P29590
Gene name |
PML (MYL, PP8675, RNF71, TRIM19) |
Protein name |
Protein PML |
Names |
E3 SUMO-protein ligase PML, Promyelocytic leukemia protein, RING finger protein 71, RING-type E3 SUMO transferase PML, Tripartite motif-containing protein 19, TRIM19 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:5371 |
EC number |
|
Protein Class |
|

Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure

Activated structure

20 structures for P29590
Entry ID | Method | Resolution | Chain | Position | Source |
---|---|---|---|---|---|
1BOR | NMR | - | A | 49-104 | PDB |
2MVW | NMR | - | A/B | 120-168 | PDB |
2MWX | NMR | - | A | 49-104 | PDB |
4WJN | X-ray | 150 A | B | 547-573 | PDB |
4WJO | X-ray | 146 A | B | 547-573 | PDB |
5YUF | X-ray | 160 A | A/B/C/D | 49-99 | PDB |
6IMQ | X-ray | 206 A | A/B/C/D | 120-168 | PDB |
6UYO | X-ray | 164 A | B/D | 547-574 | PDB |
6UYP | X-ray | 142 A | B | 547-574 | PDB |
6UYQ | X-ray | 150 A | B | 547-574 | PDB |
6UYR | X-ray | 130 A | B | 547-574 | PDB |
6UYS | X-ray | 159 A | B/D | 547-574 | PDB |
6UYT | X-ray | 166 A | B | 547-574 | PDB |
6UYU | X-ray | 166 A | B/D | 547-574 | PDB |
6UYV | X-ray | 140 A | B | 547-574 | PDB |
8DJH | X-ray | 177 A | B | 546-573 | PDB |
8DJI | X-ray | 197 A | B | 547-574 | PDB |
8J25 | X-ray | 260 A | A | 183-236 | PDB |
8J2P | X-ray | 209 A | A/E | 183-236 | PDB |
AF-P29590-F1 | Predicted | AlphaFoldDB |
775 variants for P29590
Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
---|---|---|---|---|---|
CA058983 rs780746013 RCV000207284 |
755 | R>P | Ductal breast carcinoma [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
rs925273078 CA272726353 |
3 | P>T | No |
ClinGen Ensembl |
|
CA393114886 rs1450586395 |
4 | A>T | No |
ClinGen TOPMed gnomAD |
|
CA393114891 rs1225562023 |
4 | A>V | No |
ClinGen gnomAD |
|
rs1257467598 CA393114894 |
5 | P>A | No |
ClinGen gnomAD |
|
rs975151127 CA272726361 |
5 | P>H | No |
ClinGen Ensembl |
|
rs1482238182 CA393114917 |
7 | R>L | No |
ClinGen TOPMed gnomAD |
|
CA7652294 rs542097036 |
8 | S>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA7652295 rs542097036 |
8 | S>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs1479031859 CA393114926 |
9 | P>A | No |
ClinGen TOPMed |
|
CA393114934 rs1429883570 |
9 | P>L | No |
ClinGen gnomAD |
|
CA393114939 rs1168158486 |
10 | R>K | No |
ClinGen gnomAD |
|
CA393114947 rs1469928575 |
11 | P>S | No |
ClinGen TOPMed gnomAD |
|
CA393114969 rs1277045101 |
13 | Q>E | No |
ClinGen TOPMed |
|
CA272726374 rs1020660622 |
15 | P>S | No |
ClinGen TOPMed |
|
CA272726376 rs886298849 |
16 | A>T | No |
ClinGen Ensembl |
|
rs751354376 CA393115010 |
17 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1273074911 CA393115049 |
20 | E>D | No |
ClinGen TOPMed |
|
rs1466002928 CA393115055 |
21 | P>S | No |
ClinGen gnomAD |
|
rs1380719368 CA393115080 |
23 | M>I | No |
ClinGen TOPMed gnomAD |
|
rs1364577658 CA393115074 |
23 | M>L | No |
ClinGen gnomAD |
|
CA393115072 rs1364577658 |
23 | M>V | No |
ClinGen gnomAD |
|
CA393115089 rs1595870267 |
24 | P>L | No |
ClinGen Ensembl |
|
CA393115088 rs1274872826 |
24 | P>S | No |
ClinGen TOPMed |
|
CA272726383 rs376726233 |
25 | P>T | No |
ClinGen Ensembl |
|
rs781165510 CA7652299 |
26 | P>H | No |
ClinGen ExAC gnomAD |
|
rs781165510 CA7652300 |
26 | P>R | No |
ClinGen ExAC gnomAD |
|
CA393115101 rs1346221283 |
26 | P>T | No |
ClinGen gnomAD |
|
rs979739048 CA272726401 |
27 | E>D | No |
ClinGen TOPMed |
|
CA7652302 rs201524800 |
28 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
CA7652301 RCV000957320 rs28504405 |
28 | T>P | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs749399804 CA393115125 |
29 | P>A | No |
ClinGen ExAC gnomAD |
|
CA272726412 rs959506424 |
29 | P>L | No |
ClinGen TOPMed |
|
rs749399804 CA7652303 |
29 | P>S | No |
ClinGen ExAC gnomAD |
|
CA393115124 rs749399804 |
29 | P>T | No |
ClinGen ExAC gnomAD |
|
rs1369762288 CA393115131 |
30 | S>P | No |
ClinGen TOPMed |
|
rs768816135 CA7652304 |
31 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
CA393115161 rs1191059573 |
32 | G>D | No |
ClinGen gnomAD |
|
CA393115165 rs1480567758 |
33 | R>C | No |
ClinGen gnomAD |
|
CA393115177 rs1200903609 |
34 | Q>P | No |
ClinGen gnomAD |
|
CA393115178 rs1200903609 |
34 | Q>R | No |
ClinGen gnomAD |
|
CA393115208 rs1422486859 |
37 | P>T | No |
ClinGen gnomAD |
|
CA393115218 rs1595870347 |
38 | S>R | No |
ClinGen Ensembl |
|
rs1001161123 CA272726420 |
38 | S>T | No |
ClinGen Ensembl |
|
CA393115238 rs1160529595 |
40 | S>G | No |
ClinGen gnomAD |
|
rs779135665 CA7652305 |
41 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
CA7652306 rs748479176 |
42 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
rs748479176 CA393115258 |
42 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
rs761685300 CA7652316 |
44 | R>Q | No |
ClinGen ExAC gnomAD |
|
CA393115941 rs1321882631 |
45 | A>V | No |
ClinGen gnomAD |
|
TCGA novel | 47 | A>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA7652317 rs767279397 |
47 | A>S | No |
ClinGen ExAC gnomAD |
|
CA7652318 rs377614337 |
48 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
rs780062613 CA7652320 |
51 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
CA393116002 rs1595875004 |
51 | E>D | No |
ClinGen Ensembl |
|
CA272731054 rs951185816 |
53 | Q>R | No |
ClinGen TOPMed |
|
rs147696900 CA7652321 |
56 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
TCGA novel | 56 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1567115231 COSM3387038 COSM3387036 COSM3387039 CA393116132 COSM3387037 COSM3387040 |
62 | A>V | pancreas Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
rs1359953081 CA393116138 |
63 | E>G | No |
ClinGen gnomAD |
|
rs1308225290 CA393116133 |
63 | E>K | No |
ClinGen gnomAD |
|
CA272731060 rs963684052 |
66 | C>S | No |
ClinGen TOPMed gnomAD |
|
CA7652322 rs755088983 |
67 | P>S | No |
ClinGen ExAC gnomAD |
|
CA393116198 rs975077458 |
69 | L>V | No |
ClinGen TOPMed gnomAD |
|
CA393116219 rs1456793279 |
71 | P>L | No |
ClinGen gnomAD |
|
rs1446894217 CA393116290 |
78 | S>L | No |
ClinGen TOPMed gnomAD |
|
CA393116296 rs748429878 |
79 | G>A | No |
ClinGen ExAC gnomAD |
|
rs748429878 CA7652324 |
79 | G>E | No |
ClinGen ExAC gnomAD |
|
rs28412621 CA272731080 |
79 | G>R | No |
ClinGen Ensembl |
|
rs772423497 CA7652325 |
80 | C>G | No |
ClinGen ExAC TOPMed gnomAD |
|
CA393116301 rs772423497 |
80 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA7652327 rs752972084 |
84 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
rs771298279 CA7652328 |
84 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
rs1450534241 CA393116363 |
86 | M>L | No |
ClinGen gnomAD |
|
rs543332226 CA272731092 |
87 | Q>K | No |
ClinGen 1000Genomes |
|
CA272731096 rs955683290 |
89 | P>S | No |
ClinGen TOPMed |
|
CA272731102 rs977975731 |
91 | C>S | No |
ClinGen TOPMed |
|
rs762523424 CA7652330 |
92 | Q>E | No |
ClinGen ExAC gnomAD |
|
rs531642849 CA7652332 |
93 | A>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs531642849 CA7652331 |
93 | A>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs531642849 CA272731122 |
93 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1355146149 CA393116460 |
94 | P>L | No |
ClinGen gnomAD |
|
rs761487093 CA7652333 |
94 | P>S | No |
ClinGen ExAC gnomAD |
|
CA393116471 rs767209117 |
95 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
rs767209117 CA7652334 |
95 | W>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA393116473 rs1274459324 COSM35573 |
96 | P>T | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated gnomAD |
CA272731130 rs936181106 |
98 | G>A | No |
ClinGen TOPMed |
|
rs1173712908 CA393116493 |
98 | G>S | No |
ClinGen TOPMed |
|
CA393116498 rs1214444976 |
99 | A>T | No |
ClinGen Ensembl |
|
CA7652335 rs772834238 |
101 | T>P | No |
ClinGen ExAC gnomAD |
|
CA393116535 rs570405596 COSM555995 COSM555997 COSM555996 |
103 | A>S | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
rs570405596 CA272731131 |
103 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
CA7652336 rs760548118 |
105 | D>A | No |
ClinGen ExAC gnomAD |
|
rs372639541 CA272731135 |
106 | N>D | No |
ClinGen ESP gnomAD |
|
rs756707115 CA272731139 |
107 | V>A | No |
ClinGen Ensembl |
|
CA393116573 rs1251227417 |
107 | V>I | No |
ClinGen TOPMed |
|
rs1268652956 CA393116610 |
110 | E>K | No |
ClinGen gnomAD |
|
CA393116622 rs1340042373 |
111 | S>N | No |
ClinGen gnomAD |
|
rs1237299020 CA393116645 |
113 | Q>R | No |
ClinGen gnomAD |
|
CA393116653 rs1475848935 |
114 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
rs766194468 CA7652337 |
115 | R>C | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 118 | V>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA393116706 rs1204490067 |
119 | Y>* | No |
ClinGen TOPMed |
|
CA7652340 rs765368853 |
119 | Y>H | No |
ClinGen ExAC gnomAD |
|
CA393116696 rs765368853 |
119 | Y>N | No |
ClinGen ExAC gnomAD |
|
rs141544943 CA7652341 COSM1374477 COSM1374478 COSM1374476 |
120 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA gnomAD |
CA393116724 rs1339696841 |
121 | Q>H | No |
ClinGen gnomAD |
|
rs758491320 CA7652342 |
122 | I>T | No |
ClinGen ExAC gnomAD |
|
rs1430981462 CA393116730 |
122 | I>V | No |
ClinGen gnomAD |
|
CA393116752 rs1279833875 |
124 | D>G | No |
ClinGen TOPMed gnomAD |
|
CA7652343 rs77069486 |
125 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1254559908 CA393116761 |
125 | A>S | No |
ClinGen TOPMed |
|
CA393116765 rs77069486 |
125 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA272731157 rs764681333 |
127 | A>T | No |
ClinGen Ensembl |
|
rs916000806 CA272731165 |
128 | V>A | No |
ClinGen TOPMed |
|
CA393116797 rs1278780676 |
129 | C>G | No |
ClinGen gnomAD |
|
rs948690909 CA272731173 |
130 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
CA393116808 rs1595875279 |
130 | T>P | No |
ClinGen Ensembl |
|
CA393116851 rs1567115705 |
134 | E>K | No |
ClinGen Ensembl |
|
CA7652349 rs372931853 |
135 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
TCGA novel | 136 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1170797771 CA393116915 |
139 | W>C | No |
ClinGen TOPMed gnomAD |
|
CA7652351 rs771584396 |
140 | C>W | No |
ClinGen ExAC gnomAD |
|
rs1567115731 COSM416829 COSM416827 COSM416828 CA393116943 |
142 | E>Q | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
rs1437769332 CA393116993 |
146 | L>H | No |
ClinGen TOPMed |
|
rs1184287467 CA393116996 |
147 | L>F | No |
ClinGen TOPMed |
|
rs1212946978 CA393117004 |
148 | C>R | No |
ClinGen gnomAD |
|
CA393117023 rs1262054222 |
149 | A>V | No |
ClinGen gnomAD |
|
rs1283335549 CA393117036 |
150 | K>N | No |
ClinGen TOPMed gnomAD |
|
rs1399049666 CA393117031 |
150 | K>R | No |
ClinGen gnomAD |
|
CA393117069 rs1332371182 |
153 | E>G | No |
ClinGen gnomAD |
|
CA272731192 rs943898401 |
154 | A>T | No |
ClinGen Ensembl |
|
CA272731195 rs370861713 |
158 | F>L | No |
ClinGen ESP gnomAD |
|
CA393117193 rs1488061660 |
163 | A>V | No |
ClinGen gnomAD |
|
CA393117200 rs1223553102 |
164 | R>L | No |
ClinGen gnomAD |
|
rs1223553102 CA393117197 |
164 | R>Q | No |
ClinGen gnomAD |
|
rs759402979 CA7652356 |
165 | P>R | No |
ClinGen ExAC gnomAD |
|
CA272731199 rs1047320957 |
167 | A>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
rs1196661368 CA393117220 |
167 | A>S | No |
ClinGen gnomAD |
|
CA7652357 rs565000110 |
168 | E>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA393117227 rs1376941327 |
168 | E>Q | No |
ClinGen gnomAD |
|
CA272731201 rs995136133 |
170 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
CA7652358 rs200708179 COSM1736534 COSM1736535 COSM1736536 |
170 | R>H | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
rs758540569 CA7652359 |
171 | N>H | No |
ClinGen ExAC gnomAD |
|
rs764195821 CA7652360 |
171 | N>I | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 172 | Q>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA393117293 rs781633419 |
175 | R>H | No |
ClinGen ExAC gnomAD |
|
CA7652364 rs781633419 |
175 | R>L | No |
ClinGen ExAC gnomAD |
|
CA7652363 rs781633419 |
175 | R>P | No |
ClinGen ExAC gnomAD |
|
rs368684793 CA7652365 |
177 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA393117317 rs1353498874 |
178 | L>V | No |
ClinGen gnomAD |
|
CA393117337 rs1267526518 |
180 | G>S | No |
ClinGen gnomAD |
|
COSM335029 rs771660433 COSM335030 CA7652369 COSM335028 |
182 | R>C | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
CA7652368 rs771660433 |
182 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
CA393117362 rs1251375241 |
182 | R>H | No |
ClinGen gnomAD |
|
CA393117374 rs1458135124 |
183 | K>N | No |
ClinGen gnomAD |
|
CA272731221 rs200143816 |
185 | N>K | No |
ClinGen Ensembl |
|
CA393117393 rs1296376316 |
185 | N>S | No |
ClinGen gnomAD |
|
rs996506100 CA272731223 |
186 | N>I | No |
ClinGen TOPMed gnomAD |
|
rs373742710 CA7652371 |
188 | F>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs138345086 CA7652372 |
190 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs759349668 CA393117453 |
191 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
CA393117456 rs1456081859 |
191 | N>K | No |
ClinGen gnomAD |
|
rs759349668 CA7652373 |
191 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA393117465 rs1162081356 |
192 | P>L | No |
ClinGen gnomAD |
|
rs551261745 CA7652374 |
193 | N>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA7652375 rs775451143 |
193 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1376622935 CA393117492 |
195 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
rs35291318 CA7652377 |
196 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
CA393117511 rs1244391079 |
197 | P>H | No |
ClinGen gnomAD |
|
rs1320170444 CA393117517 |
198 | T>A | No |
ClinGen TOPMed gnomAD |
|
CA393117515 rs1320170444 |
198 | T>P | No |
ClinGen TOPMed gnomAD |
|
CA393121735 rs1270889485 |
204 | C>R | No |
ClinGen TOPMed |
|
CA7652395 rs768489639 |
205 | R>Q | No |
ClinGen ExAC gnomAD |
|
rs774435967 CA7652396 |
207 | C>R | No |
ClinGen ExAC gnomAD |
|
rs1263370609 CA393121765 |
207 | C>Y | No |
ClinGen gnomAD |
|
CA272740575 rs897824788 |
208 | S>C | No |
ClinGen TOPMed |
|
CA393121775 rs1595901342 |
208 | S>P | No |
ClinGen Ensembl |
|
CA393121802 rs1262797163 |
210 | P>L | No |
ClinGen TOPMed |
|
rs1422344468 CA393121799 |
210 | P>S | No |
ClinGen gnomAD |
|
CA393121808 rs1178944366 |
211 | L>Q | No |
ClinGen gnomAD |
|
rs750722602 CA7652399 |
214 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
rs1289836458 CA393121883 |
216 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
CA393121927 rs1398414369 |
218 | L>P | No |
ClinGen gnomAD |
|
CA393121963 rs1297620109 |
220 | S>G | No |
ClinGen gnomAD |
|
rs1297620109 CA393121954 |
220 | S>R | No |
ClinGen gnomAD |
|
rs1595901403 CA393121968 |
220 | S>T | No |
ClinGen Ensembl |
|
CA393122034 rs1303403905 |
223 | S>N | No |
ClinGen gnomAD |
|
CA393122029 rs1442033915 |
223 | S>R | No |
ClinGen TOPMed |
|
CA272740616 rs17849258 |
224 | E>D | No |
ClinGen ExAC gnomAD |
|
CA393122126 rs1567129448 |
228 | D>N | No |
ClinGen Ensembl |
|
rs779310039 CA7652404 |
229 | I>M | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 229 | I>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA393122138 rs1232184244 |
229 | I>V | No |
ClinGen gnomAD |
|
rs751040865 CA7652405 |
230 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1214061989 CA393122163 |
231 | A>T | No |
ClinGen gnomAD |
|
rs926123422 CA272740626 |
231 | A>V | No |
ClinGen Ensembl |
|
rs1261820613 CA393122253 |
236 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
rs780804100 CA7652407 |
237 | Q>H | No |
ClinGen ExAC gnomAD |
|
CA7652408 rs745581079 |
239 | E>A | No |
ClinGen ExAC gnomAD |
|
CA393122314 rs1433142701 |
240 | L>M | No |
ClinGen TOPMed gnomAD |
|
rs779837719 CA7652410 |
241 | D>Y | No |
ClinGen ExAC gnomAD |
|
rs1297879562 CA393122349 |
242 | A>S | No |
ClinGen gnomAD |
|
CA393122383 rs1198521064 |
243 | M>I | No |
ClinGen gnomAD |
|
CA393122368 rs1454143397 |
243 | M>V | No |
ClinGen TOPMed |
|
rs548755096 CA7652412 |
244 | T>K | No |
ClinGen 1000Genomes ExAC |
|
rs548755096 CA272740637 |
244 | T>M | No |
ClinGen 1000Genomes ExAC |
|
rs1175324232 CA393122394 |
245 | Q>K | No |
ClinGen TOPMed |
|
CA7652414 rs748216366 |
245 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1409973888 CA393122410 |
246 | A>T | No |
ClinGen TOPMed |
|
TCGA novel | 248 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA393122439 rs1158932968 |
248 | Q>K | No |
ClinGen TOPMed |
|
CA393122444 rs1365346638 |
248 | Q>R | No |
ClinGen gnomAD |
|
CA7652418 rs766524275 |
251 | D>A | No |
ClinGen ExAC gnomAD |
|
rs267604312 CA272740659 |
251 | D>E | No |
ClinGen TOPMed |
|
CA393122507 rs766524275 |
251 | D>G | No |
ClinGen ExAC gnomAD |
|
rs769861444 CA272740658 |
251 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA7652417 rs769861444 |
251 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
rs936232769 CA272740663 |
252 | S>G | No |
ClinGen gnomAD |
|
rs1223070898 CA393122524 |
252 | S>N | No |
ClinGen gnomAD |
|
CA272740666 rs1039943861 |
256 | A>E | No |
ClinGen Ensembl |
|
rs765744379 CA7652422 |
257 | V>A | No |
ClinGen ExAC |
|
rs1438297871 CA393122646 |
259 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
CA393122655 rs1414728269 |
260 | Q>* | No |
ClinGen gnomAD |
|
rs1156972442 CA393122676 |
261 | M>T | No |
ClinGen TOPMed gnomAD |
|
rs1318964350 CA393122696 |
262 | H>Q | No |
ClinGen TOPMed |
|
rs921249769 CA272740671 |
262 | H>Y | No |
ClinGen gnomAD |
|
TCGA novel | 264 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs749942852 CA7652426 |
265 | V>A | No |
ClinGen ExAC gnomAD |
|
rs755711851 CA7652427 |
266 | G>R | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 266 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA7652428 rs779600459 |
267 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1332038475 CA393122765 |
268 | L>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
rs369316804 CA7652430 |
271 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1020491808 CA272740693 |
272 | R>H | No |
ClinGen TOPMed gnomAD |
|
rs1020491808 CA393122819 |
272 | R>L | No |
ClinGen TOPMed gnomAD |
|
CA272740696 rs887232755 |
273 | A>G | No |
ClinGen Ensembl |
|
CA393122844 rs1320649709 |
274 | E>D | No |
ClinGen gnomAD |
|
CA7652433 rs772139210 |
274 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
CA393122853 rs1199813720 |
275 | T>I | No |
ClinGen gnomAD |
|
CA393122855 rs1346612667 |
276 | E>K | No |
ClinGen TOPMed |
|
CA7652434 rs773369332 |
280 | R>L | No |
ClinGen ExAC gnomAD |
|
rs1238444195 CA393122952 |
282 | R>C | No |
ClinGen TOPMed gnomAD |
|
CA393122958 rs1473885809 |
282 | R>H | No |
ClinGen TOPMed gnomAD |
|
rs1180398219 CA393122965 |
283 | V>M | No |
ClinGen gnomAD |
|
rs771145349 CA7652436 |
284 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA393122991 rs771145349 |
284 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1180210722 CA393122994 |
285 | Q>* | No |
ClinGen TOPMed |
|
rs1180210722 CA393122993 |
285 | Q>E | No |
ClinGen TOPMed |
|
CA7652437 rs776759306 |
285 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1478151792 CA393122996 |
285 | Q>R | No |
ClinGen gnomAD |
|
rs759926492 CA7652439 |
286 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs759926492 CA7652438 |
286 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
CA7652440 rs775974503 |
287 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1294566437 CA393123037 |
289 | H>D | No |
ClinGen TOPMed |
|
CA393123044 rs1327908477 |
289 | H>R | No |
ClinGen gnomAD |
|
CA7652441 rs763387415 |
290 | V>G | No |
ClinGen ExAC gnomAD |
|
rs1247431420 CA393123079 |
291 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
rs764605006 CA7652442 |
292 | A>T | No |
ClinGen ExAC gnomAD |
|
rs749893395 CA7652443 |
293 | Q>L | No |
ClinGen ExAC gnomAD |
|
rs1226139282 CA393123141 |
295 | R>G | No |
ClinGen TOPMed |
|
rs755656820 CA7652444 |
296 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs868222335 CA272740738 |
296 | E>K | No |
ClinGen TOPMed |
|
rs868222335 CA272740737 |
296 | E>Q | No |
ClinGen TOPMed |
|
CA393123200 rs1198615199 |
299 | E>V | No |
ClinGen gnomAD |
|
rs1279768942 CA393123220 |
301 | V>M | No |
ClinGen gnomAD |
|
CA393123243 rs1444561442 |
302 | D>V | No |
ClinGen gnomAD |
|
rs1414305085 CA393123250 |
303 | A>T | No |
ClinGen Ensembl |
|
rs754797325 CA7652447 |
303 | A>V | No |
ClinGen ExAC gnomAD |
|
CA7652448 rs778503914 |
304 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
CA7652449 rs778503914 |
304 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA7652450 rs538982599 |
305 | Y>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
COSM1724222 COSM1724221 COSM1724220 CA393123295 rs1195888860 |
306 | Q>* | NS [Cosmic] | No |
ClinGen cosmic curated gnomAD |
rs140050477 CA7652451 |
307 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA7652452 rs747055654 |
308 | D>N | No |
ClinGen ExAC gnomAD |
|
CA272740767 rs1033626602 |
310 | E>D | No |
ClinGen Ensembl |
|
CA7652454 rs146344435 |
310 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
rs377549937 CA272740766 |
310 | E>V | No |
ClinGen ESP TOPMed gnomAD |
|
rs889133403 CA272740768 |
311 | E>A | No |
ClinGen TOPMed |
|
CA7652455 rs746145846 |
313 | A>P | No |
ClinGen ExAC gnomAD |
|
rs746145846 CA393123411 |
313 | A>S | No |
ClinGen ExAC gnomAD |
|
CA7652456 rs139917470 |
315 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA393123486 rs1299464689 |
317 | G>R | No |
ClinGen gnomAD |
|
rs1299464689 CA393123485 |
317 | G>S | No |
ClinGen gnomAD |
|
rs1227334631 CA393123510 |
318 | R>H | No |
ClinGen gnomAD |
|
rs1337848870 CA393123507 |
318 | R>S | No |
ClinGen gnomAD |
|
TCGA novel | 319 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA393123524 rs1347767687 |
319 | L>R | No |
ClinGen gnomAD |
|
CA7652457 rs775778127 |
319 | L>V | No |
ClinGen ExAC gnomAD |
|
CA272740773 rs774884695 |
320 | D>G | No |
ClinGen ExAC gnomAD |
|
rs774884695 CA7652460 |
320 | D>V | No |
ClinGen ExAC gnomAD |
|
rs769118386 CA7652459 |
320 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
CA393123562 rs1219129562 |
321 | A>V | No |
ClinGen gnomAD |
|
TCGA novel | 322 | V>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs765869727 CA7652462 |
325 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
CA272740776 rs966391049 |
326 | I>F | No |
ClinGen Ensembl |
|
rs979167489 CA272740777 |
327 | R>C | No |
ClinGen gnomAD |
|
rs1218716032 CA393123677 |
327 | R>L | No |
ClinGen TOPMed |
|
CA272740781 rs957562720 |
329 | G>S | No |
ClinGen Ensembl |
|
CA7652465 rs765004499 |
331 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs752501211 CA7652466 |
331 | A>V | No |
ClinGen ExAC gnomAD |
|
CA393123868 rs1381104278 |
335 | R>S | No |
ClinGen gnomAD |
|
CA272740792 rs921570606 |
337 | K>R | No |
ClinGen gnomAD |
|
rs371084483 CA7652468 |
338 | C>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA7652470 rs199516006 |
345 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs745978140 CA7652472 |
347 | D>G | No |
ClinGen ExAC gnomAD |
|
CA393124094 rs1463575722 |
347 | D>N | No |
ClinGen TOPMed |
|
rs769864191 CA393124125 |
348 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA393124137 rs1210460728 |
348 | M>T | No |
ClinGen gnomAD |
|
rs769864191 CA7652473 |
348 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs749628246 CA393124189 |
350 | G>C | No |
ClinGen ExAC gnomAD |
|
CA7652475 rs749628246 |
350 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
rs1169828822 CA393124227 |
351 | F>C | No |
ClinGen TOPMed |
|
rs1163670302 CA393124271 |
353 | R>H | No |
ClinGen gnomAD |
|
rs1252142924 CA393124279 |
354 | Q>E | No |
ClinGen gnomAD |
|
rs1567130417 CA393124350 |
358 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
CA272740841 rs967509295 |
358 | R>H | No |
ClinGen TOPMed |
|
CA7652480 rs375594567 |
360 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA272740849 rs74471420 |
362 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs775954834 CA7652481 |
362 | E>Q | No |
ClinGen ExAC gnomAD |
|
rs74471420 CA7652482 |
362 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1449390274 CA393124456 |
365 | Q>H | No |
ClinGen TOPMed gnomAD |
|
rs764951444 CA7652484 |
368 | Q>R | No |
ClinGen ExAC gnomAD |
|
CA393124497 rs1267279902 |
369 | A>T | No |
ClinGen gnomAD |
|
rs752448206 CA7652485 |
370 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA7652488 rs751376158 |
371 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA272740858 rs773725664 |
372 | R>C | No |
ClinGen ExAC gnomAD |
|
rs773725664 CA7652489 |
372 | R>G | No |
ClinGen ExAC gnomAD |
|
COSM1517515 CA393124542 COSM1517513 COSM1517514 rs1309900464 |
372 | R>L | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
CA7652490 rs767515993 |
373 | T>A | No |
ClinGen ExAC gnomAD |
|
CA272740861 rs545588296 |
374 | D>G | No |
ClinGen TOPMed |
|
CA393124576 rs1418125536 |
375 | G>A | No |
ClinGen gnomAD |
|
rs1418125536 CA393124574 |
375 | G>D | No |
ClinGen gnomAD |
|
rs780238004 CA7652493 |
376 | F>L | No |
ClinGen ExAC gnomAD |
|
CA7652495 rs377747936 |
377 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
TCGA novel | 377 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs371413149 CA7652496 |
378 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1358921256 CA393124639 |
380 | K>E | No |
ClinGen TOPMed gnomAD |
|
rs937867488 CA393124677 |
382 | R>C | No |
ClinGen TOPMed gnomAD |
|
CA7652497 rs149871195 |
382 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs149871195 CA7652498 |
382 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs937867488 CA272740892 |
382 | R>S | No |
ClinGen TOPMed gnomAD |
|
CA393124686 rs1329692309 |
383 | L>R | No |
ClinGen gnomAD |
|
CA393124690 rs1203975549 |
384 | Q>K | No |
ClinGen TOPMed |
|
rs745349363 CA7652500 |
385 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1458563717 CA393124711 |
385 | D>N | No |
ClinGen TOPMed gnomAD |
|
rs1315028133 CA393124726 |
386 | L>V | No |
ClinGen gnomAD |
|
rs369148720 CA272740898 |
387 | S>T | No |
ClinGen Ensembl |
|
rs769487892 CA7652501 |
388 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA393124756 rs1317401607 |
388 | S>T | No |
ClinGen TOPMed |
|
CA393124775 rs1238028144 |
389 | C>Y | No |
ClinGen TOPMed |
|
rs1180638019 CA393124811 |
391 | T>N | No |
ClinGen gnomAD |
|
CA7652502 rs775280848 |
392 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
rs762629473 CA7652503 |
392 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA7652504 rs763855841 |
394 | K>T | No |
ClinGen ExAC gnomAD |
|
rs867104191 CA272741428 |
395 | D>G | No |
ClinGen TOPMed |
|
CA393125483 rs1434304568 |
397 | A>T | No |
ClinGen Ensembl |
|
CA393125497 rs1595904100 |
397 | A>V | No |
ClinGen Ensembl |
|
rs768386792 CA7652522 |
402 | A>P | No |
ClinGen ExAC gnomAD |
|
CA7652523 rs142023780 |
403 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1457054837 CA393125591 |
404 | P>A | No |
ClinGen TOPMed |
|
rs1047960171 CA272741433 |
404 | P>L | No |
ClinGen TOPMed gnomAD |
|
CA393125601 rs1047960171 |
404 | P>R | No |
ClinGen TOPMed gnomAD |
|
CA7652524 rs761496643 |
406 | A>P | No |
ClinGen ExAC gnomAD |
|
rs767411421 CA7652525 |
408 | S>G | No |
ClinGen ExAC gnomAD |
|
CA393125645 rs767411421 |
408 | S>R | No |
ClinGen ExAC gnomAD |
|
CA7652526 rs772885645 |
409 | T>S | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 410 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA393125724 rs1262379239 |
412 | D>N | No |
ClinGen TOPMed |
|
rs766326578 CA393125789 |
416 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
rs766326578 CA7652528 |
416 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs145863996 CA7652529 |
417 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs543631733 | 419 | P>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
rs866169120 CA393108518 |
419 | P>L | No |
ClinGen gnomAD |
|
rs866169120 CA272722049 |
419 | P>R | No |
ClinGen gnomAD |
|
rs763180010 CA7652553 |
420 | E>A | No |
ClinGen ExAC |
|
rs565219584 CA7652552 |
420 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs764247291 CA7652554 |
422 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs867206689 CA272722075 |
423 | E>G | No |
ClinGen Ensembl |
|
CA393108547 rs1480851109 |
424 | R>K | No |
ClinGen TOPMed |
|
CA7652555 rs751936860 |
424 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 425 | V>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs746160914 CA272722078 |
427 | A>T | No |
ClinGen gnomAD |
|
CA393108588 rs1219908926 |
430 | Q>R | No |
ClinGen TOPMed |
|
rs751033700 CA7652558 |
431 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1567135316 CA393108596 |
431 | A>V | No |
ClinGen Ensembl |
|
rs778426636 CA7652560 |
433 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
CA272722087 rs758611701 |
434 | L>M | No |
ClinGen Ensembl |
|
rs747633287 CA7652561 |
437 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs771715585 CA7652562 |
438 | Q>R | No |
ClinGen ExAC gnomAD |
|
rs772181249 CA272722102 |
440 | M>V | No |
ClinGen TOPMed gnomAD |
|
rs866380391 CA272722118 |
441 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
rs1595913715 CA393108659 |
442 | V>G | No |
ClinGen Ensembl |
|
CA393108667 rs1595913719 |
443 | V>G | No |
ClinGen Ensembl |
|
rs777441794 CA7652563 CA393108694 |
448 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs746784735 CA7652564 |
449 | A>V | No |
ClinGen ExAC gnomAD |
|
rs1273869549 CA393108709 |
450 | H>L | No |
ClinGen TOPMed |
|
TCGA novel | 452 | V>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1256891305 CA393108722 |
452 | V>E | No |
ClinGen gnomAD |
|
COSM964735 rs759404689 CA7652567 COSM964736 COSM964733 |
452 | V>M | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
CA393108730 rs1488618225 |
454 | V>L | No |
ClinGen gnomAD |
|
rs1488618225 CA393108729 |
454 | V>M | No |
ClinGen gnomAD |
|
CA7652568 rs769635059 |
455 | Y>N | No |
ClinGen ExAC gnomAD |
|
rs11555843 CA7652570 |
456 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA272722146 rs143771296 |
458 | S>F | No |
ClinGen ESP TOPMed |
|
CA7652571 rs148158604 |
461 | G>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA393108779 rs148158604 |
461 | G>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1398970294 CA393108785 |
462 | P>L | No |
ClinGen gnomAD |
|
CA393108791 rs1436188555 |
463 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
rs1298048139 CA393108796 |
464 | Y>C | No |
ClinGen TOPMed gnomAD |
|
CA272722152 rs1008530876 |
465 | G>E | No |
ClinGen Ensembl |
|
CA7652572 rs774767661 |
466 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
rs769734938 CA7652586 |
470 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA7652588 rs200123201 |
472 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA393108874 rs1294097306 |
475 | Q>K | No |
ClinGen Ensembl |
|
rs774573419 CA7652590 |
478 | K>R | No |
ClinGen ExAC gnomAD |
|
CA393108901 rs774573419 |
478 | K>T | No |
ClinGen ExAC gnomAD |
|
CA7652591 rs762065759 |
479 | C>S | No |
ClinGen ExAC gnomAD |
|
rs773669860 CA7652593 |
480 | S>R | No |
ClinGen ExAC gnomAD |
|
CA393108916 rs1264097177 |
480 | S>T | No |
ClinGen gnomAD |
|
CA393108931 rs1252189977 |
482 | T>I | No |
ClinGen TOPMed gnomAD |
|
rs760985638 CA7652594 |
483 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA7652595 rs766886570 |
485 | P>L | No |
ClinGen ExAC gnomAD |
|
rs1163353594 COSM1608663 CA393108974 COSM3706723 COSM1608661 COSM1608662 |
487 | K>N | liver [Cosmic] | No |
ClinGen cosmic curated gnomAD |
rs1420597564 CA393109020 |
491 | M>L | No |
ClinGen gnomAD |
|
TCGA novel | 494 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA393109106 rs1460372560 |
496 | G>V | No |
ClinGen gnomAD |
|
CA272722432 rs1040029293 |
499 | A>G | No |
ClinGen gnomAD |
|
CA393109144 rs1325628964 |
499 | A>S | No |
ClinGen gnomAD |
|
CA393109140 rs1325628964 |
499 | A>T | No |
ClinGen gnomAD |
|
CA393109147 rs1040029293 |
499 | A>V | No |
ClinGen gnomAD |
|
CA272722437 rs897508286 |
502 | A>S | No |
ClinGen TOPMed gnomAD |
|
CA7652599 rs751085157 |
503 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA7652598 rs763529879 |
503 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
rs756856518 CA7652600 |
505 | S>F | No |
ClinGen ExAC gnomAD |
|
CA393109193 rs1206488056 |
506 | P>A | No |
ClinGen TOPMed |
|
CA7652601 rs202019975 |
506 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA393109229 rs1217033720 |
509 | P>S | No |
ClinGen TOPMed |
|
CA393109251 rs1595914612 |
510 | R>S | No |
ClinGen Ensembl |
|
rs1595914627 CA393109285 |
513 | T>P | No |
ClinGen Ensembl |
|
CA7652605 rs749109993 |
515 | K>R | No |
ClinGen ExAC gnomAD |
|
CA393109332 rs768725303 |
517 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
CA7652606 rs768725303 |
517 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs886310440 CA272722482 |
519 | P>A | No |
ClinGen TOPMed |
|
rs772391650 CA7652609 |
520 | P>L | No |
ClinGen ExAC gnomAD |
|
CA7652608 rs748267579 |
520 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1463802797 CA393109369 |
521 | H>D | No |
ClinGen TOPMed gnomAD |
|
CA393109373 rs1166540601 |
521 | H>P | No |
ClinGen TOPMed gnomAD |
|
CA393109371 rs1463802797 |
521 | H>Y | No |
ClinGen TOPMed gnomAD |
|
CA393109385 rs1395992192 |
522 | L>Q | No |
ClinGen gnomAD |
|
CA393109400 rs1462902978 |
523 | D>E | No |
ClinGen TOPMed |
|
rs370723883 CA7652610 |
525 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA7652612 rs771267596 |
526 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1292537881 CA393109462 |
528 | P>H | No |
ClinGen gnomAD |
|
CA7652614 rs759979414 |
530 | S>I | No |
ClinGen ExAC gnomAD |
|
rs146047180 CA7652615 |
532 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA393109519 rs1211232615 |
533 | I>T | No |
ClinGen gnomAD |
|
CA393109514 rs1264938598 |
533 | I>V | No |
ClinGen TOPMed |
|
rs761356725 CA7652617 |
536 | E>A | No |
ClinGen ExAC gnomAD |
|
CA7652618 rs767138681 |
537 | V>I | No |
ClinGen ExAC gnomAD |
|
rs779652279 CA7652621 |
543 | N>K | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 544 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA272722529 rs867299859 |
545 | V>M | No |
ClinGen TOPMed gnomAD |
|
CA393109731 rs1175685867 |
547 | S>R | No |
ClinGen gnomAD |
|
CA393109743 rs1292101503 |
548 | G>D | No |
ClinGen gnomAD |
|
CA7652624 rs11855663 RCV000880310 |
549 | A>T | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA7652627 rs146326362 |
550 | G>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs374199653 CA7652626 |
550 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
rs1325735061 | 551 | E>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs771198810 CA7652629 |
552 | A>T | No |
ClinGen ExAC gnomAD |
|
rs1325710733 CA393109795 |
553 | E>K | No |
ClinGen gnomAD |
|
CA393111203 rs1567136651 |
554 | E>V | No |
ClinGen Ensembl |
|
CA393111213 rs1237579574 |
555 | R>C | No |
ClinGen TOPMed |
|
CA7652672 rs200546578 |
555 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs746515572 CA7652675 |
556 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
rs746515572 CA7652674 |
556 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA393111307 rs1312140456 |
561 | S>T | No |
ClinGen TOPMed |
|
CA272723175 rs375611361 |
564 | D>N | No |
ClinGen 1000Genomes ESP TOPMed gnomAD |
|
rs764959569 CA7652678 |
565 | S>T | No |
ClinGen ExAC |
|
CA393111381 rs1309299270 |
566 | D>E | No |
ClinGen Ensembl |
|
CA7652682 rs371956504 |
567 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA7652680 rs762767132 |
567 | A>T | No |
ClinGen ExAC |
|
rs371956504 CA7652681 |
567 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
COSM964746 rs1026561797 CA272723187 COSM964749 COSM964748 |
568 | E>K | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
rs767645907 CA7652684 |
569 | N>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 570 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs765859108 CA7652957 |
571 | S>F | No |
ClinGen ExAC gnomAD |
|
CA7652960 rs778493023 |
573 | R>* | No |
ClinGen ExAC gnomAD |
|
CA7652961 rs752502722 |
573 | R>Q | No |
ClinGen ExAC gnomAD |
|
COSM1608664 rs746979292 CA7652964 |
579 | S>I | liver [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
rs200104189 CA7652965 |
580 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1399653982 CA393118029 |
582 | S>F | No |
ClinGen TOPMed |
|
CA272727987 rs958002310 |
582 | S>T | No |
ClinGen TOPMed |
|
CA393118036 rs1257908951 |
583 | S>G | No |
ClinGen TOPMed gnomAD |
|
CA7652966 rs148332748 |
583 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA393118057 rs1458109267 |
584 | D>E | No |
ClinGen gnomAD |
|
CA393118136 rs1481001295 |
590 | P>L | No |
ClinGen gnomAD |
|
CA7652968 rs770162831 |
591 | S>R | No |
ClinGen ExAC |
|
TCGA novel | 593 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA7652970 rs775792287 CA7652969 |
594 | R>S | No |
ClinGen ExAC gnomAD |
|
rs1275457313 CA393118189 |
595 | V>A | No |
ClinGen TOPMed gnomAD |
|
rs11272 CA272728023 |
598 | E>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs143616011 CA7652974 |
598 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs11272 CA7652973 |
598 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs371806874 CA7652975 |
599 | N>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA7652976 rs758989714 |
600 | L>I | No |
ClinGen ExAC gnomAD |
|
CA272728034 rs995252356 |
601 | A>P | No |
ClinGen Ensembl |
|
CA7652978 rs368061525 |
602 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA7652979 rs758035628 |
603 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1246714490 CA393118284 |
603 | P>S | No |
ClinGen gnomAD |
|
rs1246714490 CA393118280 |
603 | P>T | No |
ClinGen gnomAD |
|
rs751337106 CA7652981 |
607 | D>N | No |
ClinGen ExAC gnomAD |
|
CA393118339 rs371624259 |
608 | R>* | No |
ClinGen ESP TOPMed |
|
CA272728055 rs371624259 |
608 | R>G | No |
ClinGen ESP TOPMed |
|
rs757172711 CA7652982 |
609 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs757172711 CA393118359 |
609 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1161773321 CA393118369 |
610 | L>P | No |
ClinGen gnomAD |
|
rs781134737 CA393118479 |
616 | K>E | No |
ClinGen ExAC gnomAD |
|
CA7652983 rs781134737 |
616 | K>Q | No |
ClinGen ExAC gnomAD |
|
CA393118507 rs1400277229 |
617 | I>T | No |
ClinGen gnomAD |
|
rs745955110 CA7652984 |
619 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA393118570 rs1434374702 |
620 | E>A | No |
ClinGen gnomAD |
|
rs762475037 CA7653015 |
621 | T>N | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 622 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1248855090 CA393120297 |
622 | Q>R | No |
ClinGen gnomAD |
|
CA272728483 rs924871120 |
623 | K>R | No |
ClinGen TOPMed |
|
rs773983495 CA7653018 |
624 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA393120336 rs1186703766 |
625 | S>N | No |
ClinGen gnomAD |
|
CA7653019 rs761363933 |
626 | Q>E | No |
ClinGen ExAC gnomAD |
|
CA7653020 rs147197708 |
626 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs140558473 CA7653022 |
627 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA393120380 rs1404163177 |
629 | A>S | No |
ClinGen gnomAD |
|
rs1468020613 CA393120382 |
629 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
CA272728489 rs373236341 |
631 | N>S | No |
ClinGen Ensembl |
|
CA7653025 rs574698430 |
632 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs142900813 CA7653024 |
632 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA7653026 rs772041580 |
634 | S>N | No |
ClinGen ExAC gnomAD |
|
rs1595923646 CA393120471 |
636 | F>S | No |
ClinGen Ensembl |
|
rs753021611 CA393120481 |
637 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs753021611 CA7653027 |
637 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
CA393120485 rs1234689753 |
637 | R>H | No |
ClinGen gnomAD |
|
rs778153703 CA7653029 |
638 | V>M | No |
ClinGen ExAC gnomAD |
|
CA7653031 rs747332047 |
642 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
rs747332047 CA393120541 |
642 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA7653033 rs781620616 |
643 | E>K | No |
ClinGen ExAC gnomAD |
|
rs768274916 CA7653035 |
645 | F>C | No |
ClinGen ExAC gnomAD |
|
rs5742915 VAR_052090 CA7653034 |
645 | F>L | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA393120578 rs5742915 |
645 | F>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA393120659 rs1474850595 |
651 | K>E | No |
ClinGen TOPMed |
|
rs761108099 CA272728543 |
653 | V>A | No |
ClinGen gnomAD |
|
rs761108099 CA393120686 |
653 | V>E | No |
ClinGen gnomAD |
|
CA7653038 rs771816629 |
653 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA393120682 rs771816629 |
653 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
rs773166495 CA7653039 |
654 | S>C | No |
ClinGen ExAC gnomAD |
|
rs1252366505 CA393120689 |
654 | S>T | No |
ClinGen TOPMed |
|
rs773166495 CA7653040 |
654 | S>Y | No |
ClinGen ExAC gnomAD |
|
rs1304100114 CA393120718 |
656 | E>A | No |
ClinGen TOPMed gnomAD |
|
CA7653041 rs766424051 |
658 | G>R | No |
ClinGen ExAC gnomAD |
|
CA7653043 rs759381921 |
660 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
CA393120784 rs758676057 |
661 | H>Q | No |
ClinGen ExAC gnomAD |
|
CA7653045 rs752691619 |
661 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
rs777920303 COSM471044 CA7653047 |
662 | F>L | kidney [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
CA393120877 rs1270993926 |
667 | S>N | No |
ClinGen gnomAD |
|
CA7653048 rs751931798 |
669 | M>L | No |
ClinGen ExAC gnomAD |
|
rs1412523768 CA393120900 |
669 | M>T | No |
ClinGen gnomAD |
|
CA7653049 COSM1374492 rs202099881 |
670 | R>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
rs781533017 CA7653050 |
670 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA7653051 rs746444712 |
671 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs149885467 CA7653052 |
671 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
TCGA novel | 672 | P>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs367820386 CA7653054 |
673 | I>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA7653053 rs367820386 |
673 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
CA7653055 rs534126343 |
675 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs1309165417 CA393120996 |
677 | Y>H | No |
ClinGen gnomAD |
|
CA393121025 rs1409016428 |
678 | K>N | No |
ClinGen TOPMed |
|
rs760399378 CA7653057 |
679 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
CA272728576 rs1029424334 |
680 | W>* | No |
ClinGen TOPMed gnomAD |
|
CA393121047 rs1567141785 |
680 | W>C | No |
ClinGen Ensembl |
|
rs770911206 CA7653058 |
681 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
CA393121053 rs1306604077 |
681 | G>R | No |
ClinGen gnomAD |
|
rs952161997 CA272728585 |
684 | L>F | No |
ClinGen Ensembl |
|
CA7653061 rs765048167 |
685 | P>L | No |
ClinGen ExAC gnomAD |
|
rs752841570 CA7653062 |
686 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs752841570 CA393121104 |
686 | N>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1252422504 CA393121141 |
688 | F>L | No |
ClinGen gnomAD |
|
rs764300823 CA7653064 |
689 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA7653063 rs762959382 |
689 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
CA7653065 rs751842032 |
690 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs757456915 CA7653066 |
690 | A>V | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 696 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1169830713 CA393121238 |
696 | R>T | No |
ClinGen gnomAD |
|
CA393121253 rs1356752075 |
697 | L>R | No |
ClinGen gnomAD |
|
CA393121323 rs780369568 |
702 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
rs780369568 CA7653070 |
702 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs916147857 CA272728619 |
702 | E>V | No |
ClinGen Ensembl |
|
rs758050411 CA7653072 |
705 | S>A | No |
ClinGen ExAC gnomAD |
|
rs376941681 CA7653073 |
705 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs376941681 CA393121371 |
705 | S>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
TCGA novel | 706 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1314377363 CA393121376 |
706 | G>S | No |
ClinGen TOPMed |
|
rs573612912 CA7653074 |
708 | L>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA7653075 rs372005113 |
709 | A>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs776522964 CA7653076 |
710 | A>S | No |
ClinGen ExAC gnomAD |
|
rs745598226 CA7653077 |
713 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs934681999 CA272728650 |
714 | I>T | No |
ClinGen Ensembl |
|
CA7653079 rs769781945 |
715 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs762869380 CA7653080 |
715 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA7653078 rs769781945 |
715 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
rs367988522 CA272728654 |
717 | R>C | No |
ClinGen ESP TOPMed gnomAD |
|
rs367988522 CA393121494 |
717 | R>G | No |
ClinGen ESP TOPMed gnomAD |
|
CA393121500 rs1185108539 |
717 | R>H | No |
ClinGen TOPMed gnomAD |
|
CA393121497 rs1185108539 |
717 | R>L | No |
ClinGen TOPMed gnomAD |
|
rs764216789 CA7653081 |
719 | P>H | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 719 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA7653083 rs762061870 |
720 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA272728695 rs559192849 |
721 | A>T | No |
ClinGen Ensembl |
|
CA393121525 rs1408649253 |
722 | S>N | No |
ClinGen gnomAD |
|
CA7653084 rs767593867 |
724 | F>L | No |
ClinGen ExAC gnomAD |
|
CA7653085 rs111398700 |
725 | K>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA393121572 rs1595923777 |
728 | N>K | No |
ClinGen Ensembl |
|
CA272728697 rs1047741654 |
730 | A>S | No |
ClinGen TOPMed gnomAD |
|
rs1047741654 CA393121580 |
730 | A>T | No |
ClinGen TOPMed gnomAD |
|
CA393121588 rs1335019509 |
731 | Q>R | No |
ClinGen gnomAD |
|
CA7653086 rs140696630 |
732 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA393121609 rs1435933113 |
734 | L>P | No |
ClinGen gnomAD |
|
rs755524243 CA7653089 |
735 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs777469680 CA7653090 |
736 | R>* | No |
ClinGen ExAC gnomAD |
|
CA7653092 rs577626364 |
738 | M>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs746481117 CA7653091 |
738 | M>V | No |
ClinGen ExAC gnomAD |
|
rs780649478 CA393121637 |
739 | S>G | No |
ClinGen ExAC gnomAD |
|
CA7653093 rs780649478 |
739 | S>R | No |
ClinGen ExAC gnomAD |
|
rs1460558038 CA393121639 |
739 | S>T | No |
ClinGen gnomAD |
|
CA7653094 rs745678082 |
740 | E>K | No |
ClinGen ExAC gnomAD |
|
rs745678082 CA393121643 |
740 | E>Q | No |
ClinGen ExAC gnomAD |
|
CA7653096 rs769540520 |
741 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs369136208 CA7653097 |
741 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA7653095 rs769540520 |
741 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA393121662 rs566939707 |
743 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs566939707 CA7653099 |
743 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA393121669 rs1174666365 |
744 | M>K | No |
ClinGen TOPMed gnomAD |
|
rs1174666365 CA393121670 |
744 | M>T | No |
ClinGen TOPMed gnomAD |
|
rs767787538 CA7653101 |
747 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
rs1430073273 CA393121700 |
748 | L>R | No |
ClinGen gnomAD |
|
rs867495375 CA272728785 |
749 | A>T | No |
ClinGen TOPMed gnomAD |
|
CA7653104 rs766703777 |
749 | A>V | No |
ClinGen ExAC gnomAD |
|
CA7653105 rs754228130 |
750 | M>T | No |
ClinGen ExAC gnomAD |
|
CA393121716 rs1225133713 |
750 | M>V | No |
ClinGen gnomAD |
|
rs760154145 CA7653106 |
751 | R>C | Variant assessed as Somatic; 5.762e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs760154145 CA272728789 |
751 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs545201747 CA7653107 |
751 | R>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs760154145 CA393121734 |
751 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 752 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA272728792 rs995197860 |
752 | D>H | No |
ClinGen Ensembl |
|
CA7653108 rs751125523 |
753 | L>V | No |
ClinGen ExAC gnomAD |
|
rs1307900203 CA393121769 |
754 | C>S | No |
ClinGen gnomAD |
|
rs756651718 CA7653109 |
755 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA7653110 rs780746013 |
755 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 757 | L>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs755769375 CA7653112 |
758 | E>K | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 758 | E>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA7653113 rs755769375 |
758 | E>Q | No |
ClinGen ExAC gnomAD |
|
rs768601255 CA393121855 |
759 | V>F | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 759 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs768601255 CA7653115 |
759 | V>L | No |
ClinGen ExAC gnomAD |
|
CA272728840 rs959133455 |
760 | S>F | No |
ClinGen TOPMed |
|
rs200757566 CA7653117 |
761 | P>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA7653118 rs748074472 |
761 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA393121876 rs748074472 |
761 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA7653120 rs140925157 |
762 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs140925157 CA393121895 |
762 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1012203019 CA272728849 |
763 | P>L | No |
ClinGen TOPMed gnomAD |
|
CA7653122 rs771147774 |
767 | Q>R | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 770 | Y>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1023224519 CA272728880 |
773 | S>I | No |
ClinGen TOPMed gnomAD |
|
CA393122080 rs1220973529 |
774 | S>G | No |
ClinGen TOPMed gnomAD |
|
rs924896245 CA272728883 |
777 | C>R | No |
ClinGen Ensembl |
|
rs765841772 CA7653125 |
777 | C>W | No |
ClinGen ExAC gnomAD |
|
rs1231412287 CA393122188 |
779 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
rs1429292269 CA393122218 |
781 | L>P | No |
ClinGen TOPMed |
|
CA393122273 rs1387227893 |
785 | V>M | No |
ClinGen gnomAD |
|
CA393122290 rs1261515211 |
786 | Q>* | No |
ClinGen TOPMed |
|
CA393122293 rs1261515211 |
786 | Q>K | No |
ClinGen TOPMed |
|
rs1422798425 CA393122326 |
787 | A>V | No |
ClinGen TOPMed gnomAD |
|
rs1409624673 CA393122336 |
788 | A>D | No |
ClinGen TOPMed gnomAD |
|
rs766980954 CA7653128 |
791 | P>H | No |
ClinGen ExAC gnomAD |
|
CA393122372 rs1410347513 |
791 | P>S | No |
ClinGen gnomAD |
|
CA7653132 rs374210403 |
792 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs374210403 CA7653131 |
792 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA7653130 rs61751125 |
792 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
rs1384418899 CA393122443 |
795 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
rs754836240 CA7653133 COSM3771884 |
796 | R>C | Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
rs188674537 CA7653134 |
796 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs565387284 CA7653136 |
797 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs1271413648 CA393122481 |
798 | L>P | No |
ClinGen TOPMed gnomAD |
|
rs1271413648 CA393122482 |
798 | L>R | No |
ClinGen TOPMed gnomAD |
|
CA393122486 rs1437601990 |
799 | A>T | No |
ClinGen TOPMed gnomAD |
|
CA7653139 rs202062354 |
803 | V>L | No |
ClinGen 1000Genomes ExAC |
|
CA7653140 rs202062354 |
803 | V>M | No |
ClinGen 1000Genomes ExAC |
|
CA393122571 rs1328069485 |
804 | S>N | No |
ClinGen TOPMed gnomAD |
|
CA7653141 rs776923981 |
804 | S>R | No |
ClinGen ExAC gnomAD |
|
rs1299927443 CA393122662 |
808 | L>P | No |
ClinGen TOPMed |
|
CA7653144 rs770336594 |
810 | S>I | No |
ClinGen ExAC gnomAD |
|
CA7653143 rs770336594 |
810 | S>N | No |
ClinGen ExAC gnomAD |
|
rs763409135 CA7653145 |
811 | A>T | No |
ClinGen ExAC gnomAD |
|
CA393122724 rs1169575330 |
811 | A>V | No |
ClinGen gnomAD |
|
CA393122743 rs1441478097 |
812 | H>R | No |
ClinGen gnomAD |
|
rs1037329656 CA272728957 |
813 | R>C | No |
ClinGen gnomAD |
|
CA393122751 rs1037329656 |
813 | R>G | No |
ClinGen gnomAD |
|
CA7653146 rs566711622 |
813 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA7653147 rs772617875 |
814 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA7653148 rs200577511 |
814 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs138772531 CA7653149 |
816 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs201288185 CA272728965 |
816 | R>W | No |
ClinGen gnomAD |
|
rs1326505687 CA393122845 |
817 | Q>H | No |
ClinGen gnomAD |
|
rs753549555 CA7653151 |
817 | Q>L | No |
ClinGen ExAC |
|
CA7653154 rs752500365 |
818 | G>E | No |
ClinGen ExAC |
|
CA393122850 rs754603424 CA7653152 |
818 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA7653153 rs754603424 |
818 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
CA393122867 rs1339183772 |
819 | G>R | No |
ClinGen TOPMed gnomAD |
|
rs1339183772 CA393122864 |
819 | G>S | No |
ClinGen TOPMed gnomAD |
|
CA393122874 rs1453073399 |
819 | G>V | No |
ClinGen TOPMed |
|
CA393122889 rs1595923967 |
820 | L>P | No |
ClinGen Ensembl |
|
CA393122896 rs1595923968 |
821 | K>E | No |
ClinGen Ensembl |
|
rs758294457 CA7653155 |
821 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 824 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA393122986 rs1196974578 |
825 | R>H | No |
ClinGen TOPMed |
|
CA7653157 rs373296015 |
826 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs373296015 CA393123008 |
826 | Y>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA7653158 rs757475807 |
827 | L>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA393123103 rs1202551662 |
831 | T>N | No |
ClinGen TOPMed |
|
CA393123126 rs1371232169 |
832 | T>I | No |
ClinGen gnomAD |
|
rs1473024247 CA393123130 |
833 | T>A | No |
ClinGen TOPMed |
|
CA7653160 rs746137264 |
833 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
TCGA novel | 836 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs749615160 CA7653164 |
836 | P>S | No |
ClinGen ExAC gnomAD |
|
CA7653165 rs141646523 |
837 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs112105465 CA272729008 |
838 | Q>H | No |
ClinGen Ensembl |
|
CA7653167 rs762214399 |
839 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
CA393123251 rs1306454478 |
839 | P>L | No |
ClinGen TOPMed |
|
CA393123242 rs762214399 |
839 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs762214399 CA393123239 |
839 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA7653168 rs200030114 |
840 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA393123330 rs1285510885 |
844 | Q>R | No |
ClinGen gnomAD |
|
CA393123344 rs1223190247 |
845 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
rs759218798 CA7653170 |
845 | A>V | No |
ClinGen ExAC gnomAD |
|
CA393123384 rs1486910944 |
847 | G>D | No |
ClinGen gnomAD |
|
TCGA novel | 847 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 848 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA7653171 rs764824094 |
850 | F>L | No |
ClinGen ExAC gnomAD |
|
rs752452667 CA7653172 |
851 | E>D | No |
ClinGen ExAC gnomAD |
|
CA7653174 rs763790024 |
852 | G>V | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 854 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs745901836 CA7653178 |
856 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA7653179 COSM555984 rs756426423 |
857 | P>L | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
CA393123607 rs1156244389 |
857 | P>T | No |
ClinGen gnomAD |
|
CA7653181 rs79562667 |
858 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA7653184 rs748693881 |
859 | L>M | No |
ClinGen ExAC |
|
rs753052629 CA272729045 |
860 | A>G | No |
ClinGen Ensembl |
|
rs370339805 CA393123705 |
861 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA7653186 rs370339805 |
861 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs138817062 CA7653185 |
861 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA393123712 rs1567142187 |
862 | A>T | No |
ClinGen Ensembl |
|
rs1236987495 CA393123767 |
863 | E>A | No |
ClinGen gnomAD |
|
CA393123768 rs1236987495 |
863 | E>G | No |
ClinGen gnomAD |
|
rs769338190 CA7653189 |
868 | P>S | No |
ClinGen ExAC gnomAD |
|
CA7653190 rs775282344 |
870 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1567142199 CA393123952 |
871 | G>V | No |
ClinGen Ensembl |
|
CA7653191 rs762496523 |
872 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs762496523 CA393123965 |
872 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
COSM1221319 rs199966678 CA7653192 |
872 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
rs538388118 CA7653193 |
873 | G>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA393124109 rs1595924064 |
877 | R>T | No |
ClinGen Ensembl |
|
CA393124126 rs1420438059 |
878 | A>V | No |
ClinGen gnomAD |
|
CA393124190 rs1379215863 |
881 | Q>* | No |
ClinGen gnomAD |
|
rs750544529 CA7653196 |
883 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
1 associated diseases with P29590
Without disease ID
7 regional properties for P29590
Type | Name | Position | InterPro Accession |
---|---|---|---|
domain | AAA+ ATPase domain | 159 - 295 | IPR003593 |
domain | ATPase, AAA-type, core | 163 - 293 | IPR003959 |
conserved_site | ATPase, AAA-type, conserved site | 265 - 284 | IPR003960 |
domain | MIT domain | 2 - 80 | IPR007330 |
domain | Spastin/Vps4, C-terminal | 374 - 434 | IPR015415 |
domain | AAA ATPase, AAA+ lid domain | 316 - 350 | IPR041569 |
domain | Vacuolar protein sorting-associated protein 4, MIT domain | 4 - 79 | IPR045253 |
Functions
13 GO annotations of cellular component
Name | Definition |
---|---|
chromatin | The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome. |
chromosome, telomeric region | The end of a linear chromosome, required for the integrity and maintenance of the end. A chromosome telomere usually includes a region of telomerase-encoded repeats the length of which rarely exceeds 20 bp each and that permits the formation of a telomeric loop (T-loop). The telomeric repeat region is usually preceded by a sub-telomeric region that is gene-poor but rich in repetitive elements. Some telomeres only consist of the latter part (for eg. D. melanogaster telomeres). |
cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
early endosome membrane | The lipid bilayer surrounding an early endosome. |
extrinsic component of endoplasmic reticulum membrane | The component of the endoplasmic reticulum membrane consisting of gene products and protein complexes that are loosely bound to one of its surfaces, but not integrated into the hydrophobic region. |
heterochromatin | A compact and highly condensed form of chromatin that is refractory to transcription. |
nuclear matrix | The dense fibrillar network lying on the inner side of the nuclear membrane. |
nuclear membrane | Either of the lipid bilayers that surround the nucleus and form the nuclear envelope; excludes the intermembrane space. |
nucleolus | A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome. |
nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
PML body | A class of nuclear body; they react against SP100 auto-antibodies (PML, promyelocytic leukemia); cells typically contain 10-30 PML bodies per nucleus; alterations in the localization of PML bodies occurs after viral infection. |
13 GO annotations of molecular function
Name | Definition |
---|---|
cobalt ion binding | Binding to a cobalt ion (Co). |
DNA binding | Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid). |
identical protein binding | Binding to an identical protein or proteins. |
protein heterodimerization activity | Binding to a nonidentical protein to form a heterodimer. |
protein homodimerization activity | Binding to an identical protein to form a homodimer. |
SMAD binding | Binding to a SMAD signaling protein. |
SUMO binding | Binding to the small ubiquitin-like protein SUMO. |
SUMO transferase activity | Catalysis of the transfer of SUMO from one protein to another via the reaction X-SUMO + Y --> Y-SUMO + X, where both X-SUMO and Y-SUMO are covalent linkages. |
sumo-dependent protein binding | Binding to a protein upon sumoylation of the target protein. |
transcription coactivator activity | A transcription coregulator activity that activates or increases the transcription of specific gene sets via binding to a DNA-bound DNA-binding transcription factor, either on its own or as part of a complex. Coactivators often act by altering chromatin structure and modifications. For example, one class of transcription coactivators modifies chromatin structure through covalent modification of histones. A second class remodels the conformation of chromatin in an ATP-dependent fashion. A third class modulates interactions of DNA-bound DNA-binding transcription factors with other transcription coregulators. A fourth class of coactivator activity is the bridging of a DNA-binding transcription factor to the general (basal) transcription machinery. The Mediator complex, which bridges sequence-specific DNA binding transcription factors and RNA polymerase, is also a transcription coactivator. |
ubiquitin protein ligase binding | Binding to a ubiquitin protein ligase enzyme, any of the E3 proteins. |
ubiquitin-protein transferase activity | Catalysis of the transfer of ubiquitin from one protein to another via the reaction X-Ub + Y --> Y-Ub + X, where both X-Ub and Y-Ub are covalent linkages. |
zinc ion binding | Binding to a zinc ion (Zn). |
62 GO annotations of biological process
Name | Definition |
---|---|
activation of cysteine-type endopeptidase activity involved in apoptotic process | Any process that initiates the activity of the inactive enzyme cysteine-type endopeptidase in the context of an apoptotic process. |
apoptotic process | A programmed cell death process which begins when a cell receives an internal (e.g. DNA damage) or external signal (e.g. an extracellular death ligand), and proceeds through a series of biochemical events (signaling pathway phase) which trigger an execution phase. The execution phase is the last step of an apoptotic process, and is typically characterized by rounding-up of the cell, retraction of pseudopodes, reduction of cellular volume (pyknosis), chromatin condensation, nuclear fragmentation (karyorrhexis), plasma membrane blebbing and fragmentation of the cell into apoptotic bodies. When the execution phase is completed, the cell has died. |
branching involved in mammary gland duct morphogenesis | The process in which the branching structure of the mammary gland duct is generated and organized. The mammary gland is a large compound sebaceous gland that in female mammals is modified to secrete milk. |
cell fate commitment | The commitment of cells to specific cell fates and their capacity to differentiate into particular kinds of cells. Positional information is established through protein signals that emanate from a localized source within a cell (the initial one-cell zygote) or within a developmental field. |
cellular response to interleukin-4 | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an interleukin-4 stimulus. |
cellular response to leukemia inhibitory factor | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a leukemia inhibitory factor stimulus. |
cellular senescence | A cell aging process stimulated in response to cellular stress, whereby normal cells lose the ability to divide through irreversible cell cycle arrest. |
circadian regulation of gene expression | Any process that modulates the frequency, rate or extent of gene expression such that an expression pattern recurs with a regularity of approximately 24 hours. |
common-partner SMAD protein phosphorylation | The process of introducing a phosphate group on to a common-partner SMAD protein. A common partner SMAD protein binds to pathway-restricted SMAD proteins forming a complex that translocates to the nucleus. |
DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest | A cascade of processes induced by the cell cycle regulator phosphoprotein p53, or an equivalent protein, in response to the detection of DNA damage and resulting in the stopping or reduction in rate of the cell cycle. |
endoplasmic reticulum calcium ion homeostasis | Any process involved in the maintenance of an internal steady state of calcium ions within the endoplasmic reticulum of a cell or between the endoplasmic reticulum and its surroundings. |
entrainment of circadian clock by photoperiod | The synchronization of a circadian rhythm to photoperiod, the intermittent cycle of light (day) and dark (night). |
extrinsic apoptotic signaling pathway | The series of molecular signals in which a signal is conveyed from the cell surface to trigger the apoptotic death of a cell. The pathway starts with either a ligand binding to a cell surface receptor, or a ligand being withdrawn from a cell surface receptor (e.g. in the case of signaling by dependence receptors), and ends when the execution phase of apoptosis is triggered. |
fibroblast migration | Cell migration that is accomplished by extension and retraction of a fibroblast pseudopodium. A fibroblast is a connective tissue cell which secretes an extracellular matrix rich in collagen and other macromolecules. |
innate immune response | Innate immune responses are defense responses mediated by germline encoded components that directly recognize components of potential pathogens. |
intrinsic apoptotic signaling pathway in response to DNA damage | The series of molecular signals in which an intracellular signal is conveyed to trigger the apoptotic death of a cell. The pathway is induced by the detection of DNA damage, and ends when the execution phase of apoptosis is triggered. |
intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator | The series of molecular signals in which an intracellular signal is conveyed to trigger the apoptotic death of a cell. The pathway is induced by the cell cycle regulator phosphoprotein p53, or an equivalent protein, in response to the detection of DNA damage, and ends when the execution phase of apoptosis is triggered. |
intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress | The series of molecular signals in which an intracellular signal is conveyed to trigger the apoptotic death of a cell. The pathway is induced in response to a stimulus indicating endoplasmic reticulum (ER) stress, and ends when the execution phase of apoptosis is triggered. ER stress usually results from the accumulation of unfolded or misfolded proteins in the ER lumen. |
intrinsic apoptotic signaling pathway in response to oxidative stress | The series of molecular signals in which an intracellular signal is conveyed to trigger the apoptotic death of a cell. The pathway is induced in response to oxidative stress, a state often resulting from exposure to high levels of reactive oxygen species, and ends when the execution phase of apoptosis is triggered. |
maintenance of protein location in nucleus | Any process in which a protein is maintained in the nucleus and prevented from moving elsewhere. These include sequestration within the nucleus, protein stabilization to prevent transport elsewhere and the active retrieval of proteins that escape the nucleus. |
myeloid cell differentiation | The process in which a relatively unspecialized myeloid precursor cell acquires the specialized features of any cell of the myeloid leukocyte, megakaryocyte, thrombocyte, or erythrocyte lineages. |
negative regulation of angiogenesis | Any process that stops, prevents, or reduces the frequency, rate or extent of angiogenesis. |
negative regulation of cell growth | Any process that stops, prevents, or reduces the frequency, rate, extent or direction of cell growth. |
negative regulation of cell population proliferation | Any process that stops, prevents or reduces the rate or extent of cell proliferation. |
negative regulation of DNA-templated transcription | Any process that stops, prevents, or reduces the frequency, rate or extent of cellular DNA-templated transcription. |
negative regulation of interleukin-1 beta production | Any process that stops, prevents, or reduces the frequency, rate, or extent of interleukin-1 beta production. |
negative regulation of mitotic cell cycle | Any process that stops, prevents or reduces the rate or extent of progression through the mitotic cell cycle. |
negative regulation of telomerase activity | Any process that stops or reduces the activity of the enzyme telomerase, which catalyzes of the reaction: deoxynucleoside triphosphate + DNA(n) = diphosphate + DNA(n+1). |
negative regulation of telomere maintenance via telomerase | Any process that stops, prevents, or reduces the frequency, rate or extent of the addition of telomeric repeats by telomerase. |
negative regulation of translation in response to oxidative stress | Any process that stops, prevents, or reduces the frequency, rate or extent of translation as a result of oxidative stress, a state often resulting from exposure to high levels of reactive oxygen species, e.g. superoxide anions, hydrogen peroxide (H2O2), and hydroxyl radicals. |
negative regulation of ubiquitin-dependent protein catabolic process | Any process that stops, prevents, or reduces the frequency, rate or extent of ubiquitin-dependent protein catabolic process. |
oncogene-induced cell senescence | A cellular senescence process associated with the dismantling of a cell as a response to oncogenic stress, such as the activation of the Ras oncogenic family. |
PML body organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of PML bodies, a class of nuclear body; they react against SP100 auto-antibodies (PML = promyelocytic leukemia). |
positive regulation of apoptotic process involved in mammary gland involution | Any process that activates or increases the frequency, rate or extent of cell death by apoptotic process of mammary epithelial cells during mammary gland involution. |
positive regulation of defense response to virus by host | Any host process that results in the promotion of antiviral immune response mechanisms, thereby limiting viral replication. |
positive regulation of DNA-templated transcription | Any process that activates or increases the frequency, rate or extent of cellular DNA-templated transcription. |
positive regulation of extrinsic apoptotic signaling pathway | Any process that activates or increases the frequency, rate or extent of extrinsic apoptotic signaling pathway. |
positive regulation of fibroblast proliferation | Any process that activates or increases the frequency, rate or extent of multiplication or reproduction of fibroblast cells. |
positive regulation of histone deacetylation | Any process that activates or increases the frequency, rate or extent of the removal of acetyl groups from histones. |
positive regulation of peptidyl-lysine acetylation | Any process that activates or increases the frequency, rate or extent of peptidyl-lysine acetylation. |
positive regulation of protein localization to chromosome, telomeric region | Any process that activates or increases the frequency, rate or extent of protein localization to chromosome, telomeric region. |
positive regulation of signal transduction by p53 class mediator | Any process that activates or increases the frequency, rate or extent of signal transduction by p53 class mediator. |
positive regulation of telomere maintenance | Any process that activates or increases the frequency, rate or extent of a process that affects and monitors the activity of telomeric proteins and the length of telomeric DNA. |
proteasome-mediated ubiquitin-dependent protein catabolic process | The chemical reactions and pathways resulting in the breakdown of a protein or peptide by hydrolysis of its peptide bonds, initiated by the covalent attachment of ubiquitin, and mediated by the proteasome. |
protein import into nucleus | The directed movement of a protein from the cytoplasm to the nucleus. |
protein stabilization | Any process involved in maintaining the structure and integrity of a protein and preventing it from degradation or aggregation. |
protein targeting | The process of targeting specific proteins to particular regions of the cell, typically membrane-bounded subcellular organelles. Usually requires an organelle specific protein sequence motif. |
protein-containing complex assembly | The aggregation, arrangement and bonding together of a set of macromolecules to form a protein-containing complex. |
protein-containing complex localization | A localization process that acts on a protein complex; the complex is transported to, or maintained in, a specific location. |
regulation of calcium ion transport into cytosol | Any process that modulates the rate of the directed movement of calcium ions into the cytosol of a cell. The cytosol is that part of the cytoplasm that does not contain membranous or particulate subcellular components. |
regulation of cell adhesion | Any process that modulates the frequency, rate or extent of attachment of a cell to another cell or to the extracellular matrix. |
regulation of cell cycle | Any process that modulates the rate or extent of progression through the cell cycle. |
regulation of circadian rhythm | Any process that modulates the frequency, rate or extent of a circadian rhythm. A circadian rhythm is a biological process in an organism that recurs with a regularity of approximately 24 hours. |
regulation of DNA-templated transcription | Any process that modulates the frequency, rate or extent of cellular DNA-templated transcription. |
regulation of double-strand break repair | Any process that modulates the frequency, rate or extent of double-strand break repair. |
response to cytokine | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a cytokine stimulus. |
response to gamma radiation | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a gamma radiation stimulus. Gamma radiation is a form of electromagnetic radiation (EMR) or light emission of a specific frequency produced from sub-atomic particle interaction, such as electron-positron annihilation and radioactive decay. Gamma rays are generally characterized as EMR having the highest frequency and energy, and also the shortest wavelength, within the electromagnetic radiation spectrum. |
response to hypoxia | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating lowered oxygen tension. Hypoxia, defined as a decline in O2 levels below normoxic levels of 20.8 - 20.95%, results in metabolic adaptation at both the cellular and organismal level. |
response to UV | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an ultraviolet radiation (UV light) stimulus. Ultraviolet radiation is electromagnetic radiation with a wavelength in the range of 10 to 380 nanometers. |
retinoic acid receptor signaling pathway | The series of molecular signals generated as a consequence of a retinoic acid receptor binding to one of its physiological ligands. |
suppression of viral release by host | A process in which a host organism stops, prevents or reduces the frequency, rate or extent of the release of a virus with which it is infected, from its cells. |
transforming growth factor beta receptor signaling pathway | The series of molecular signals initiated by an extracellular ligand binding to a transforming growth factor beta receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription. |
46 homologous proteins in AiPD
UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
---|---|---|---|---|
Q5E9G4 | TRIM10 | Tripartite motif-containing protein 10 | Bos taurus (Bovine) | PR |
Q2T9Z0 | TRIM17 | E3 ubiquitin-protein ligase TRIM17 | Bos taurus (Bovine) | PR |
E1BJS7 | TRIM71 | E3 ubiquitin-protein ligase TRIM71 | Bos taurus (Bovine) | PR |
Q7YRV4 | TRIM21 | E3 ubiquitin-protein ligase TRIM21 | Bos taurus (Bovine) | PR |
Q1PRL4 | TRIM71 | E3 ubiquitin-protein ligase TRIM71 | Gallus gallus (Chicken) | PR |
Q7YR32 | TRIM10 | Tripartite motif-containing protein 10 | Pan troglodytes (Chimpanzee) | PR |
O15553 | MEFV | Pyrin | Homo sapiens (Human) | SS |
Q9BTV5 | FSD1 | Fibronectin type III and SPRY domain-containing protein 1 | Homo sapiens (Human) | PR |
Q9H2S5 | RNF39 | RING finger protein 39 | Homo sapiens (Human) | PR |
P19474 | TRIM21 | E3 ubiquitin-protein ligase TRIM21 | Homo sapiens (Human) | PR |
Q9UJV3 | MID2 | Probable E3 ubiquitin-protein ligase MID2 | Homo sapiens (Human) | PR |
Q9C029 | TRIM7 | E3 ubiquitin-protein ligase TRIM7 | Homo sapiens (Human) | PR |
Q9NQ86 | TRIM36 | E3 ubiquitin-protein ligase TRIM36 | Homo sapiens (Human) | PR |
Q86UV6 | TRIM74 | Tripartite motif-containing protein 74 | Homo sapiens (Human) | PR |
Q9UPQ4 | TRIM35 | E3 ubiquitin-protein ligase TRIM35 | Homo sapiens (Human) | PR |
Q6ZMU5 | TRIM72 | Tripartite motif-containing protein 72 | Homo sapiens (Human) | PR |
Q86UV7 | TRIM73 | Tripartite motif-containing protein 73 | Homo sapiens (Human) | PR |
Q8N9V2 | TRIML1 | Probable E3 ubiquitin-protein ligase TRIML1 | Homo sapiens (Human) | PR |
Q86XT4 | TRIM50 | E3 ubiquitin-protein ligase TRIM50 | Homo sapiens (Human) | PR |
Q5EBN2 | TRIM61 | Putative tripartite motif-containing protein 61 | Homo sapiens (Human) | PR |
Q9BZY9 | TRIM31 | E3 ubiquitin-protein ligase TRIM31 | Homo sapiens (Human) | PR |
Q2Q1W2 | TRIM71 | E3 ubiquitin-protein ligase TRIM71 | Homo sapiens (Human) | PR |
Q9BXM9 | FSD1L | FSD1-like protein | Homo sapiens (Human) | PR |
Q9WUH5 | Trim10 | Tripartite motif-containing protein 10 | Mus musculus (Mouse) | PR |
Q8BZT2 | Sh3rf2 | E3 ubiquitin-protein ligase SH3RF2 | Mus musculus (Mouse) | PR |
Q7TPM3 | Trim17 | E3 ubiquitin-protein ligase TRIM17 | Mus musculus (Mouse) | PR |
Q1XH17 | Trim72 | Tripartite motif-containing protein 72 | Mus musculus (Mouse) | PR |
Q9JJ26 | Mefv | Pyrin | Mus musculus (Mouse) | SS |
Q99PQ1 | Trim12a | Tripartite motif-containing protein 12A | Mus musculus (Mouse) | PR |
Q61510 | Trim25 | E3 ubiquitin/ISG15 ligase TRIM25 | Mus musculus (Mouse) | PR |
Q810I2 | Trim50 | E3 ubiquitin-protein ligase TRIM50 | Mus musculus (Mouse) | PR |
Q1PSW8 | Trim71 | E3 ubiquitin-protein ligase TRIM71 | Mus musculus (Mouse) | PR |
Q3TL54 | Trim43a | Tripartite motif-containing protein 43A | Mus musculus (Mouse) | PR |
P86449 | Trim43c | Tripartite motif-containing protein 43C | Mus musculus (Mouse) | PR |
Q60953 | Pml | Protein PML | Mus musculus (Mouse) | PR |
O77666 | TRIM26 | Tripartite motif-containing protein 26 | Sus scrofa (Pig) | PR |
O19085 | TRIM10 | Tripartite motif-containing protein 10 | Sus scrofa (Pig) | PR |
Q865W2 | TRIM50 | E3 ubiquitin-protein ligase TRIM50 | Sus scrofa (Pig) | PR |
Q920M2 | Rnf39 | RING finger protein 39 | Rattus norvegicus (Rat) | PR |
Q9JJ25 | Mefv | Pyrin | Rattus norvegicus (Rat) | SS |
A0JPQ4 | Trim72 | Tripartite motif-containing protein 72 | Rattus norvegicus (Rat) | PR |
Q810I1 | Trim50 | E3 ubiquitin-protein ligase TRIM50 | Rattus norvegicus (Rat) | PR |
D3ZVM4 | Trim71 | E3 ubiquitin-protein ligase TRIM71 | Rattus norvegicus (Rat) | PR |
F6QEU4 | trim71 | E3 ubiquitin-protein ligase TRIM71 | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | PR |
Q640S6 | trim72 | Tripartite motif-containing protein 72 | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | PR |
E7FAM5 | trim71 | E3 ubiquitin-protein ligase TRIM71 | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
10 | 20 | 30 | 40 | 50 | 60 |
MEPAPARSPR | PQQDPARPQE | PTMPPPETPS | EGRQPSPSPS | PTERAPASEE | EFQFLRCQQC |
70 | 80 | 90 | 100 | 110 | 120 |
QAEAKCPKLL | PCLHTLCSGC | LEASGMQCPI | CQAPWPLGAD | TPALDNVFFE | SLQRRLSVYR |
130 | 140 | 150 | 160 | 170 | 180 |
QIVDAQAVCT | RCKESADFWC | FECEQLLCAK | CFEAHQWFLK | HEARPLAELR | NQSVREFLDG |
190 | 200 | 210 | 220 | 230 | 240 |
TRKTNNIFCS | NPNHRTPTLT | SIYCRGCSKP | LCCSCALLDS | SHSELKCDIS | AEIQQRQEEL |
250 | 260 | 270 | 280 | 290 | 300 |
DAMTQALQEQ | DSAFGAVHAQ | MHAAVGQLGR | ARAETEELIR | ERVRQVVAHV | RAQERELLEA |
310 | 320 | 330 | 340 | 350 | 360 |
VDARYQRDYE | EMASRLGRLD | AVLQRIRTGS | ALVQRMKCYA | SDQEVLDMHG | FLRQALCRLR |
370 | 380 | 390 | 400 | 410 | 420 |
QEEPQSLQAA | VRTDGFDEFK | VRLQDLSSCI | TQGKDAAVSK | KASPEAASTP | RDPIDVDLPE |
430 | 440 | 450 | 460 | 470 | 480 |
EAERVKAQVQ | ALGLAEAQPM | AVVQSVPGAH | PVPVYAFSIK | GPSYGEDVSN | TTTAQKRKCS |
490 | 500 | 510 | 520 | 530 | 540 |
QTQCPRKVIK | MESEEGKEAR | LARSSPEQPR | PSTSKAVSPP | HLDGPPSPRS | PVIGSEVFLP |
550 | 560 | 570 | 580 | 590 | 600 |
NSNHVASGAG | EAEERVVVIS | SSEDSDAENS | SSRELDDSSS | ESSDLQLEGP | STLRVLDENL |
610 | 620 | 630 | 640 | 650 | 660 |
ADPQAEDRPL | VFFDLKIDNE | TQKISQLAAV | NRESKFRVVI | QPEAFFSIYS | KAVSLEVGLQ |
670 | 680 | 690 | 700 | 710 | 720 |
HFLSFLSSMR | RPILACYKLW | GPGLPNFFRA | LEDINRLWEF | QEAISGFLAA | LPLIRERVPG |
730 | 740 | 750 | 760 | 770 | 780 |
ASSFKLKNLA | QTYLARNMSE | RSAMAAVLAM | RDLCRLLEVS | PGPQLAQHVY | PFSSLQCFAS |
790 | 800 | 810 | 820 | 830 | 840 |
LQPLVQAAVL | PRAEARLLAL | HNVSFMELLS | AHRRDRQGGL | KKYSRYLSLQ | TTTLPPAQPA |
850 | 860 | 870 | 880 | ||
FNLQALGTYF | EGLLEGPALA | RAEGVSTPLA | GRGLAERASQ | QS |