Q6ZMU5
Gene name |
TRIM72 |
Protein name |
Tripartite motif-containing protein 72 |
Names |
Mitsugumin-53, Mg53 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:493829 |
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

4 structures for Q6ZMU5
Entry ID | Method | Resolution | Chain | Position | Source |
---|---|---|---|---|---|
3KB5 | X-ray | 150 A | A | 278-470 | PDB |
7XT2 | X-ray | 300 A | A/B | 1-477 | PDB |
7Y4S | EM | 350 A | A/B | 1-477 | PDB |
AF-Q6ZMU5-F1 | Predicted | AlphaFoldDB |
477 variants for Q6ZMU5
Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
---|---|---|---|---|---|
rs1428902806 CA395692770 |
3 | A>T | No |
ClinGen TOPMed gnomAD |
|
rs941438425 CA395692794 |
4 | A>E | No |
ClinGen gnomAD |
|
rs941438425 CA280625175 |
4 | A>V | No |
ClinGen gnomAD |
|
rs1040297827 CA280625180 |
5 | P>S | No |
ClinGen TOPMed |
|
CA395692849 rs772186103 |
6 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8024645 rs772186103 |
6 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8024646 rs775366554 |
7 | L>P | No |
ClinGen ExAC gnomAD |
|
rs1306014013 CA395692918 |
9 | H>L | No |
ClinGen TOPMed |
|
rs760852942 CA8024647 |
9 | H>Q | No |
ClinGen ExAC gnomAD |
|
rs1277881435 CA395692961 |
11 | E>* | No |
ClinGen gnomAD |
|
CA395693032 rs1440608019 |
13 | S>P | No |
ClinGen gnomAD |
|
rs764074408 CA8024648 |
14 | C>* | No |
ClinGen ExAC gnomAD |
|
rs1389658626 CA395693095 |
15 | P>L | No |
ClinGen TOPMed |
|
rs1471942388 CA395693141 |
17 | C>* | No |
ClinGen gnomAD |
|
CA395693199 rs1478601345 |
20 | L>R | No |
ClinGen TOPMed gnomAD |
|
rs1400750879 CA395693226 |
22 | D>N | No |
ClinGen gnomAD |
|
rs1412150352 CA395693257 |
23 | A>P | No |
ClinGen TOPMed gnomAD |
|
rs1412150352 CA395693251 |
23 | A>T | No |
ClinGen TOPMed gnomAD |
|
CA395693292 rs1370032300 |
24 | P>L | No |
ClinGen gnomAD |
|
rs758057099 CA8024653 |
25 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
rs766066140 CA8024654 |
26 | T>A | No |
ClinGen ExAC gnomAD |
|
CA395693361 rs1233770552 |
29 | C>G | No |
ClinGen gnomAD |
|
CA395693363 rs1596935972 |
29 | C>Y | No |
ClinGen Ensembl |
|
TCGA novel | 30 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1216265557 CA395693390 |
31 | H>N | No |
ClinGen TOPMed gnomAD |
|
CA395693458 rs1421441263 |
34 | C>S | No |
ClinGen TOPMed |
|
CA8024657 rs754511013 |
35 | R>C | No |
ClinGen ExAC gnomAD |
|
rs1482477323 CA395693487 |
35 | R>H | No |
ClinGen gnomAD |
|
CA8024658 rs778219100 |
36 | A>S | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 36 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1451796095 CA395693504 |
36 | A>V | No |
ClinGen gnomAD |
|
rs1020005582 CA280625362 |
37 | C>R | No |
ClinGen TOPMed |
|
rs757602634 CA8024660 |
37 | C>S | No |
ClinGen ExAC gnomAD |
|
rs779211761 CA8024661 |
38 | L>P | No |
ClinGen ExAC gnomAD |
|
rs746246758 CA8024662 |
40 | R>S | No |
ClinGen ExAC gnomAD |
|
rs1325044807 CA395693607 |
42 | A>T | No |
ClinGen gnomAD |
|
CA395693623 rs772128235 |
43 | G>R | No |
ClinGen ExAC gnomAD |
|
CA8024663 rs772128235 |
43 | G>W | No |
ClinGen ExAC gnomAD |
|
CA395693646 rs1366221016 |
44 | E>A | No |
ClinGen gnomAD |
|
CA395693643 rs1165525481 |
44 | E>K | No |
ClinGen TOPMed gnomAD |
|
rs1329151033 CA395693687 |
46 | A>V | No |
ClinGen gnomAD |
|
CA8024665 rs747047326 |
48 | D>G | No |
ClinGen ExAC gnomAD |
|
CA395693707 rs1298327069 |
48 | D>H | No |
ClinGen gnomAD |
|
rs1356384611 CA395693886 |
57 | Q>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
CA8024668 rs776690440 |
58 | A>T | No |
ClinGen ExAC |
|
CA395693927 rs1264755347 |
58 | A>V | No |
ClinGen TOPMed gnomAD |
|
CA8024670 rs769631711 |
59 | P>S | No |
ClinGen ExAC gnomAD |
|
rs769631711 CA395693936 |
59 | P>T | No |
ClinGen ExAC gnomAD |
|
CA280625407 rs1017497201 |
60 | T>K | No |
ClinGen TOPMed gnomAD |
|
TCGA novel | 60 | T>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA395693994 rs1336233016 |
61 | R>Q | No |
ClinGen TOPMed |
|
CA395694001 rs1369133305 |
62 | P>S | No |
ClinGen gnomAD |
|
CA8024671 rs377300213 |
65 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
rs762825035 CA8024672 |
66 | S>I | No |
ClinGen ExAC gnomAD |
|
CA395694158 rs1458658565 |
67 | T>A | No |
ClinGen gnomAD |
|
CA280625431 rs979874959 |
69 | L>M | No |
ClinGen TOPMed gnomAD |
|
rs1432848023 CA395694257 |
72 | A>V | No |
ClinGen TOPMed gnomAD |
|
CA280625436 rs1032425121 |
73 | R>H | No |
ClinGen TOPMed gnomAD |
|
CA395694274 rs1032425121 |
73 | R>L | No |
ClinGen TOPMed gnomAD |
|
CA395694299 rs1263379428 |
75 | V>E | No |
ClinGen TOPMed gnomAD |
|
CA395694338 rs1208912989 |
77 | G>E | No |
ClinGen gnomAD |
|
CA280625438 rs958559598 |
77 | G>W | No |
ClinGen Ensembl |
|
CA280625443 rs993164751 |
78 | L>M | No |
ClinGen TOPMed gnomAD |
|
rs549168444 CA8024675 |
80 | Q>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs767071126 CA8024676 |
82 | P>R | No |
ClinGen ExAC gnomAD |
|
CA395694462 rs1260557342 |
83 | Q>L | No |
ClinGen TOPMed |
|
CA395694475 rs1423388645 |
84 | G>S | No |
ClinGen gnomAD |
|
rs1425316077 CA395694525 |
86 | C>Y | No |
ClinGen gnomAD |
|
CA395694543 rs1489115430 |
87 | E>Q | No |
ClinGen TOPMed |
|
CA395694638 rs1567492479 |
90 | L>V | No |
ClinGen Ensembl |
|
rs1357162624 CA395694732 |
92 | P>L | No |
ClinGen TOPMed |
|
rs1473052320 CA395694780 |
94 | S>I | No |
ClinGen TOPMed gnomAD |
|
rs779489515 CA8024679 |
95 | I>M | No |
ClinGen ExAC gnomAD |
|
rs567360429 CA8024678 |
95 | I>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
COSM1679044 rs567360429 CA280625495 COSM1679043 |
95 | I>S | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
rs1245564849 CA395694802 |
95 | I>V | No |
ClinGen TOPMed |
|
CA395694823 rs1455390231 |
96 | Y>C | No |
ClinGen gnomAD |
|
rs780109162 CA8024682 |
97 | C>* | No |
ClinGen ExAC gnomAD |
|
CA8024681 rs750705473 |
97 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8024680 rs750705473 |
97 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1361652864 CA395694874 |
98 | E>G | No |
ClinGen TOPMed |
|
CA395694887 rs1394986685 |
99 | Q>R | No |
ClinGen gnomAD |
|
CA8024683 rs747286617 |
101 | R>G | No |
ClinGen ExAC gnomAD |
|
rs781493336 CA8024685 |
101 | R>L | No |
ClinGen ExAC gnomAD |
|
rs747286617 CA8024684 |
101 | R>S | No |
ClinGen ExAC gnomAD |
|
CA395694976 rs1228631787 |
102 | A>V | No |
ClinGen gnomAD |
|
CA280625536 rs949548449 |
104 | V>A | No |
ClinGen TOPMed |
|
rs769565638 CA8024687 |
104 | V>M | No |
ClinGen ExAC gnomAD |
|
CA8024688 rs773228834 |
105 | C>* | No |
ClinGen ExAC TOPMed gnomAD |
|
rs926893076 CA395695059 |
106 | G>E | No |
ClinGen TOPMed gnomAD |
|
CA8024689 rs762622415 |
106 | G>R | No |
ClinGen ExAC gnomAD |
|
CA280625570 rs926893076 |
106 | G>V | No |
ClinGen TOPMed gnomAD |
|
CA395695076 rs1252788789 |
107 | V>M | No |
ClinGen gnomAD |
|
rs941699631 CA280625580 |
109 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
rs1181742784 CA395695215 |
110 | S>L | No |
ClinGen gnomAD |
|
CA395695257 rs1471525096 |
112 | G>A | No |
ClinGen gnomAD |
|
rs1037813604 CA280625617 |
112 | G>R | No |
ClinGen TOPMed gnomAD |
|
rs1177930934 CA395695276 |
113 | S>W | No |
ClinGen TOPMed gnomAD |
|
CA8024693 rs767161211 |
114 | H>Q | No |
ClinGen ExAC gnomAD |
|
rs1221422076 CA395695317 |
115 | R>C | No |
ClinGen TOPMed |
|
CA280625649 rs897493166 |
116 | G>D | No |
ClinGen TOPMed |
|
CA8024694 rs752143235 |
117 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs760255630 CA8024696 |
118 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8024697 rs750980692 |
118 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs760255630 CA8024695 |
118 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs758668680 CA8024698 |
120 | L>M | No |
ClinGen ExAC gnomAD |
|
rs766910598 CA8024699 |
121 | P>T | No |
ClinGen ExAC gnomAD |
|
rs1596936306 CA395695484 |
122 | A>D | No |
ClinGen Ensembl |
|
rs1311932071 CA395695593 |
125 | A>T | No |
ClinGen gnomAD |
|
CA8024702 rs755188223 |
126 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA280625708 rs890264579 |
127 | A>S | No |
ClinGen TOPMed |
|
rs890264579 CA395695642 |
127 | A>T | No |
ClinGen TOPMed |
|
rs199876193 CA8024703 |
128 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA395695673 rs1352142797 |
128 | R>H | No |
ClinGen TOPMed |
|
CA8024704 rs200603153 |
129 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
rs934135318 CA280625723 |
129 | L>R | No |
ClinGen TOPMed |
|
rs1243621524 CA395698409 |
132 | Q>* | No |
ClinGen TOPMed gnomAD |
|
TCGA novel | 134 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs531394387 CA8024796 |
137 | K>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs769061768 CA395698540 |
139 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
rs769061768 CA8024797 |
139 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8024798 rs776916600 |
140 | L>V | No |
ClinGen ExAC gnomAD |
|
rs1485190692 CA395698576 |
141 | Q>* | No |
ClinGen gnomAD |
|
CA395698582 rs1202658958 |
141 | Q>R | No |
ClinGen gnomAD |
|
CA395698609 rs1441852379 |
143 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
CA8024800 rs748528190 |
144 | C>F | No |
ClinGen ExAC gnomAD |
|
rs1186145703 CA395698639 |
144 | C>R | No |
ClinGen gnomAD |
|
rs748528190 CA8024799 |
144 | C>S | No |
ClinGen ExAC gnomAD |
|
rs1056294548 CA280628276 |
145 | M>T | No |
ClinGen gnomAD |
|
rs773457022 CA8024801 |
146 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs201191466 CA8024802 COSM1737065 COSM1737064 |
146 | R>H | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
CA280628278 rs773457022 |
146 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs774337718 CA8024804 |
149 | K>N | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 151 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs149024766 CA8024806 |
151 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA8024807 rs752489122 |
153 | V>G | No |
ClinGen ExAC |
|
CA395698818 rs1394911284 |
153 | V>M | No |
ClinGen gnomAD |
|
CA280628319 rs939740670 |
156 | H>R | No |
ClinGen TOPMed |
|
rs553295367 CA8024809 |
159 | V>G | No |
ClinGen ExAC gnomAD |
|
rs756003981 CA8024808 |
159 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA395698964 rs1596939640 |
161 | V>G | No |
ClinGen Ensembl |
|
rs1424530652 CA395698951 |
161 | V>M | No |
ClinGen TOPMed |
|
rs756793233 CA280628508 |
163 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
rs759681780 CA8024824 |
164 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs143098996 CA8024825 |
165 | V>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1460787138 CA395699050 |
165 | V>M | No |
ClinGen TOPMed |
|
CA8024826 rs374969194 |
166 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
CA8024828 rs201331213 |
166 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA395699075 rs201331213 |
166 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA8024827 rs374969194 |
166 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA8024830 rs761306791 |
167 | Q>H | No |
ClinGen ExAC gnomAD |
|
CA8024829 rs753537137 |
167 | Q>L | No |
ClinGen ExAC gnomAD |
|
CA395699125 rs1191595581 |
169 | R>Q | No |
ClinGen gnomAD |
|
CA8024832 COSM1230418 rs148214926 COSM1230419 |
169 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed |
TCGA novel | 171 | A>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA8024834 COSM1179768 COSM1179769 rs757959915 |
172 | V>M | prostate [Cosmic] | No |
ClinGen cosmic curated ExAC |
CA280628571 rs939072859 |
173 | G>A | No |
ClinGen TOPMed |
|
rs939072859 CA395699173 |
173 | G>E | No |
ClinGen TOPMed |
|
CA395699182 rs756462500 |
174 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8024837 rs756462500 |
174 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
COSM557727 CA8024839 COSM557726 rs749674647 |
177 | G>C | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
rs771007987 CA8024840 |
180 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs745904502 CA8024842 |
180 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
rs771007987 CA8024841 |
180 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
CA395699348 rs1596939838 |
181 | V>G | No |
ClinGen Ensembl |
|
rs775555008 CA8024844 |
181 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA395699342 rs775555008 |
181 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
CA395699412 rs1567494055 |
184 | A>P | No |
ClinGen Ensembl |
|
rs1596939849 CA395699426 |
185 | A>P | No |
ClinGen Ensembl |
|
CA395699435 rs1596939854 |
185 | A>V | No |
ClinGen Ensembl |
|
rs768721119 CA8024846 |
186 | L>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
CA395699473 rs761692670 |
188 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
rs761692670 CA8024848 |
188 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8024847 rs776233456 |
188 | G>S | No |
ClinGen ExAC gnomAD |
|
CA8024849 rs115885262 RCV000955511 |
192 | R>C | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA395699545 rs115885262 |
192 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs191800804 CA8024851 |
192 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
CA8024850 rs115885262 |
192 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA395699588 rs1166804246 |
193 | E>D | No |
ClinGen TOPMed |
|
rs756675094 CA8024854 |
193 | E>K | No |
ClinGen ExAC gnomAD |
|
rs778233584 CA8024855 |
194 | A>V | No |
ClinGen ExAC gnomAD |
|
CA280628670 rs117857886 |
195 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA395699610 rs1431783321 |
195 | E>Q | No |
ClinGen TOPMed |
|
rs757603858 CA8024857 |
196 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs745643982 CA280628671 |
196 | R>H | No |
ClinGen TOPMed gnomAD |
|
rs555872534 CA8024858 |
197 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs200796476 CA8024860 |
198 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA8024861 rs144116136 |
198 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs200796476 CA8024859 |
198 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs768760420 CA8024863 |
199 | G>D | No |
ClinGen ExAC gnomAD |
|
CA280628688 rs74575362 |
200 | E>G | No |
ClinGen Ensembl |
|
rs776598239 CA8024864 |
203 | V>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
CA395699781 rs1596939972 |
203 | V>G | No |
ClinGen Ensembl |
|
CA395699773 rs776598239 |
203 | V>I | No |
ClinGen ExAC gnomAD |
|
CA8024867 rs769578887 |
204 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8024866 rs769578887 |
204 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs766005593 CA8024869 |
206 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8024870 rs766005593 |
206 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
CA395699853 rs780638717 |
206 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8024871 rs780638717 |
206 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8024874 rs572271373 |
207 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
CA8024873 rs369542040 |
207 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
TCGA novel | 208 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs750748445 CA8024876 |
210 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1182145743 CA395700029 |
211 | S>N | No |
ClinGen gnomAD |
|
rs1371274198 CA395700063 |
212 | L>R | No |
ClinGen TOPMed |
|
rs780399664 CA8024878 |
214 | S>A | No |
ClinGen ExAC gnomAD |
|
rs1312295541 CA719951218 |
215 | Y>* | No |
ClinGen TOPMed |
|
CA8024882 rs781011212 |
220 | R>Q | No |
ClinGen ExAC gnomAD |
|
CA8024881 rs374279718 |
220 | R>W | No |
ClinGen ESP ExAC TOPMed |
|
rs748055741 CA8024883 |
221 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8024884 rs769618706 |
222 | M>I | No |
ClinGen ExAC gnomAD |
|
rs1469998012 CA395700418 |
222 | M>R | No |
ClinGen TOPMed |
|
CA395700411 rs1596940076 |
222 | M>V | No |
ClinGen Ensembl |
|
CA395700461 rs1596940090 |
223 | E>G | No |
ClinGen Ensembl |
|
CA395700451 rs1361024396 |
223 | E>K | No |
ClinGen gnomAD |
|
rs773120703 CA8024885 |
224 | K>M | No |
ClinGen ExAC gnomAD |
|
CA395700547 rs1596940102 |
225 | V>G | No |
ClinGen Ensembl |
|
rs1410185144 CA395700518 |
225 | V>L | No |
ClinGen TOPMed |
|
CA280628799 rs867053659 |
227 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
CA8024886 rs749063759 |
229 | V>G | No |
ClinGen ExAC |
|
CA395700635 rs1312538377 |
229 | V>M | No |
ClinGen gnomAD |
|
rs139612395 CA8024888 |
230 | A>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs139612395 CA8024887 |
230 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA8024891 rs200975523 |
231 | D>E | No |
ClinGen ExAC gnomAD |
|
CA8024890 rs766996531 |
231 | D>N | No |
ClinGen ExAC |
|
CA8024893 rs201571350 |
233 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA395700795 rs201571350 |
233 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs939123654 CA280628855 |
233 | P>S | No |
ClinGen Ensembl |
|
rs1567494182 CA395700898 |
237 | F>C | No |
ClinGen Ensembl |
|
rs758802409 CA8024895 |
237 | F>L | No |
ClinGen ExAC gnomAD |
|
rs766735832 CA395700926 |
239 | M>L | No |
ClinGen ExAC gnomAD |
|
CA395700937 rs1210944047 |
239 | M>T | No |
ClinGen TOPMed gnomAD |
|
CA8024896 rs766735832 |
239 | M>V | No |
ClinGen ExAC gnomAD |
|
rs1037370861 CA280630007 |
241 | Y>C | No |
ClinGen gnomAD |
|
rs1409209161 CA395702128 |
245 | T>A | No |
ClinGen gnomAD |
|
rs1326631528 CA395702140 |
245 | T>I | No |
ClinGen gnomAD |
|
TCGA novel | 246 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA280630061 rs142710131 |
247 | R>K | No |
ClinGen ESP TOPMed gnomAD |
|
CA280630051 rs900140660 |
247 | R>W | No |
ClinGen gnomAD |
|
rs1314377489 CA395702565 |
249 | Q>R | No |
ClinGen gnomAD |
|
TCGA novel | 250 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA8024945 rs779776298 |
253 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs368945748 CA8024947 |
254 | E>D | No |
ClinGen ESP ExAC TOPMed |
|
CA395702673 rs1458727559 |
254 | E>K | No |
ClinGen TOPMed |
|
CA8024948 rs754536847 |
256 | P>A | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 257 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs780912615 CA8024949 |
257 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8024950 rs780912615 |
257 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8024951 rs780912615 |
257 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs911724963 CA280631388 |
258 | P>H | No |
ClinGen TOPMed |
|
CA8024952 rs774961699 |
258 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA280631387 rs774961699 |
258 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA395702791 rs1485483447 |
259 | A>D | No |
ClinGen gnomAD |
|
CA8024955 COSM185258 rs775787122 COSM185259 |
259 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
COSM970165 rs1185990761 COSM970166 CA395702822 |
260 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
CA8024956 rs151006683 |
260 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA395702848 rs764288374 |
262 | D>N | No |
ClinGen ExAC gnomAD |
|
CA8024957 rs764288374 |
262 | D>Y | No |
ClinGen ExAC gnomAD |
|
rs1488672638 CA395702961 |
267 | I>V | No |
ClinGen TOPMed |
|
CA395703003 rs1451062037 |
268 | I>V | No |
ClinGen gnomAD |
|
rs1250715432 CA395703087 |
269 | S>L | No |
ClinGen TOPMed |
|
CA8024959 rs562867534 |
270 | D>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA395703106 rs1375479846 |
270 | D>Y | No |
ClinGen gnomAD |
|
rs1310636468 CA395703135 |
271 | D>N | No |
ClinGen gnomAD |
|
rs750277758 CA8024961 |
272 | F>L | No |
ClinGen ExAC gnomAD |
|
CA395703229 rs1306975214 |
274 | F>L | No |
ClinGen gnomAD |
|
CA280631468 rs868381885 |
275 | Q>* | No |
ClinGen Ensembl |
|
CA280631473 rs1045551590 |
280 | M>V | No |
ClinGen Ensembl |
|
rs1236013003 CA395703450 CA395703452 |
281 | F>L | No |
ClinGen TOPMed gnomAD |
|
rs1320107533 CA395703436 |
281 | F>S | No |
ClinGen TOPMed |
|
rs140739096 CA8024963 |
282 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
CA280631481 rs887056269 |
282 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
CA280631486 rs939947094 |
285 | M>I | No |
ClinGen Ensembl |
|
CA280631513 rs1038375589 |
287 | A>T | No |
ClinGen gnomAD |
|
rs1156785619 CA395704692 |
287 | A>V | No |
ClinGen TOPMed |
|
CA395704743 rs1471150496 |
290 | E>K | No |
ClinGen TOPMed |
|
rs773204133 CA8024980 |
291 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8024982 rs150087468 |
292 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs534421116 CA395704895 |
295 | P>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA395704914 rs1371759585 |
295 | P>L | No |
ClinGen gnomAD |
|
CA8024984 rs534421116 |
295 | P>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs754784371 CA8024985 |
296 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
CA395704984 rs1394365990 |
296 | S>R | No |
ClinGen TOPMed gnomAD |
|
rs767302913 CA8024987 |
297 | S>F | No |
ClinGen ExAC |
|
rs1596943327 CA395705037 |
299 | H>P | No |
ClinGen Ensembl |
|
CA395705109 rs755691030 |
300 | P>L | No |
ClinGen ExAC gnomAD |
|
CA8024989 rs755691030 |
300 | P>R | No |
ClinGen ExAC gnomAD |
|
rs752343664 CA8024988 |
300 | P>S | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 305 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA395705351 rs1273526288 |
306 | S>C | No |
ClinGen gnomAD |
|
TCGA novel | 306 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs866681890 CA280632702 |
308 | G>S | No |
ClinGen Ensembl |
|
rs758879061 CA8024993 |
309 | R>C | No |
ClinGen ExAC gnomAD |
|
rs368859412 CA280632709 |
309 | R>H | No |
ClinGen gnomAD |
|
rs758879061 CA8024994 |
309 | R>S | No |
ClinGen ExAC gnomAD |
|
rs1019552922 CA280632712 |
310 | R>G | No |
ClinGen gnomAD |
|
rs1185637569 CA395705456 |
310 | R>H | No |
ClinGen gnomAD |
|
CA395705442 rs1019552922 |
310 | R>S | No |
ClinGen gnomAD |
|
rs1284100831 CA395705467 |
311 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
CA395705476 rs1195696274 |
312 | E>Q | No |
ClinGen gnomAD |
|
rs141229511 CA8024996 |
313 | C>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1166136120 CA395705555 |
314 | S>* | No |
ClinGen gnomAD |
|
rs1166136120 CA395705565 |
314 | S>W | No |
ClinGen gnomAD |
|
rs773058167 CA280632745 |
315 | E>Q | No |
ClinGen gnomAD |
|
CA8024999 rs571127764 |
319 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
CA8025000 rs773218230 |
320 | P>L | No |
ClinGen ExAC gnomAD |
|
CA395705741 rs1287383801 |
321 | A>T | No |
ClinGen TOPMed gnomAD |
|
rs1003218502 CA280632792 |
321 | A>V | No |
ClinGen TOPMed gnomAD |
|
CA395705779 rs1354517530 |
322 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
CA395705766 rs1293682315 CA395705764 |
322 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
rs1354517530 CA395705785 |
322 | G>V | No |
ClinGen gnomAD |
|
CA280632810 rs112486041 |
323 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
CA280632824 rs936743874 |
324 | D>E | No |
ClinGen gnomAD |
|
CA280632846 rs989532506 |
326 | R>S | No |
ClinGen Ensembl |
|
COSM225042 CA395705949 COSM225041 rs1317028548 |
327 | Q>* | Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
rs763062275 CA395705971 |
329 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
rs763062275 CA8025001 |
329 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
rs375401025 CA8025004 |
331 | A>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
TCGA novel | 331 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA8025003 rs774300796 |
331 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 333 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs199815688 CA8025007 CA8025006 |
335 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
TCGA novel | 336 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA280632878 rs369457250 |
337 | H>Q | No |
ClinGen ESP gnomAD |
|
rs1400584459 CA395706260 |
337 | H>Y | No |
ClinGen gnomAD |
|
rs201970764 CA280632879 |
338 | Q>E | No |
ClinGen 1000Genomes gnomAD |
|
CA8025008 rs763780493 |
339 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA395706422 rs1442714325 |
341 | S>Y | No |
ClinGen gnomAD |
|
rs1373999972 CA395706484 |
344 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
CA395706483 rs1373999972 |
344 | E>Q | No |
ClinGen gnomAD |
|
rs1223108582 CA395706522 |
345 | H>R | No |
ClinGen gnomAD |
|
CA395706574 rs1306467317 |
347 | W>R | No |
ClinGen gnomAD |
|
CA280632911 rs1046980046 |
348 | E>A | No |
ClinGen Ensembl |
|
CA395706589 rs1303628124 |
348 | E>K | No |
ClinGen TOPMed gnomAD |
|
rs1372224005 CA395706616 |
349 | V>M | No |
ClinGen gnomAD |
|
rs1349344355 CA395706706 |
350 | D>N | No |
ClinGen gnomAD |
|
CA280632912 rs765642505 |
351 | V>F | No |
ClinGen gnomAD |
|
CA395706731 rs765642505 |
351 | V>I | No |
ClinGen gnomAD |
|
rs1207089367 CA395706796 |
353 | D>G | No |
ClinGen gnomAD |
|
rs752003573 CA8025013 |
353 | D>Y | No |
ClinGen ExAC gnomAD |
|
rs1353657027 CA395706870 |
355 | P>L | No |
ClinGen TOPMed |
|
CA8025014 rs755338073 |
356 | R>C | No |
ClinGen ExAC gnomAD |
|
rs781600735 CA8025015 |
356 | R>H | No |
ClinGen ExAC gnomAD |
|
CA395706890 rs781600735 |
356 | R>L | No |
ClinGen ExAC gnomAD |
|
rs1254783583 CA395706969 |
359 | L>M | No |
ClinGen gnomAD |
|
rs1339491076 CA395707033 |
361 | V>E | No |
ClinGen TOPMed |
|
rs1397026037 CA395707019 |
361 | V>M | No |
ClinGen TOPMed gnomAD |
|
CA395707050 rs1567495928 |
362 | I>T | No |
ClinGen Ensembl |
|
CA8025018 rs778019966 |
363 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA395707109 rs1330679793 |
365 | E>K | No |
ClinGen TOPMed gnomAD |
|
rs1196879675 CA395707137 |
366 | A>P | No |
ClinGen gnomAD |
|
CA280632958 rs908054101 |
366 | A>V | No |
ClinGen TOPMed |
|
CA280632982 rs896786892 |
367 | P>L | No |
ClinGen TOPMed gnomAD |
|
CA280632981 rs1036695116 |
367 | P>S | No |
ClinGen TOPMed gnomAD |
|
rs749353531 CA280632985 |
368 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA395707189 rs1234344465 |
368 | R>P | No |
ClinGen gnomAD |
|
COSM4129021 CA8025019 rs749353531 COSM4129020 |
368 | R>S | thyroid [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
CA395707243 rs1302301016 |
370 | G>E | No |
ClinGen gnomAD |
|
CA395707239 rs1456479883 |
370 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
CA395707284 rs1342476792 |
371 | R>C | No |
ClinGen gnomAD |
|
CA395707290 rs1215892505 |
371 | R>H | No |
ClinGen gnomAD |
|
rs760372032 CA395707323 |
373 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
rs760372032 CA8025020 |
373 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8025021 rs774438318 |
374 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
CA395707342 rs1197371146 |
374 | A>S | No |
ClinGen gnomAD |
|
CA395707359 rs774438318 |
374 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA280633028 rs889516572 |
375 | V>A | No |
ClinGen TOPMed gnomAD |
|
TCGA novel | 378 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA395707423 rs1316696566 |
378 | Q>L | No |
ClinGen TOPMed |
|
CA8025022 rs770390611 |
379 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
CA395707596 rs1384246333 |
385 | L>V | No |
ClinGen Ensembl |
|
rs922138735 CA280633036 |
386 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
CA395707667 rs1420037120 |
388 | G>D | No |
ClinGen gnomAD |
|
CA395707658 rs1274090807 |
388 | G>S | No |
ClinGen TOPMed |
|
rs565529736 CA280633039 |
390 | I>S | No |
ClinGen Ensembl |
|
rs1409152342 CA395707775 |
392 | E>A | No |
ClinGen TOPMed gnomAD |
|
rs1441494900 CA395707882 |
395 | V>A | No |
ClinGen gnomAD |
|
CA395707876 rs1446168459 |
395 | V>L | No |
ClinGen TOPMed |
|
TCGA novel | 395 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA395707885 rs1328791124 |
396 | E>K | No |
ClinGen TOPMed gnomAD |
|
CA395707887 rs1328791124 |
396 | E>Q | No |
ClinGen TOPMed gnomAD |
|
CA395707943 rs1054155250 |
398 | K>R | No |
ClinGen TOPMed gnomAD |
|
CA280633043 rs1054155250 |
398 | K>T | No |
ClinGen TOPMed gnomAD |
|
rs1217157136 CA395707995 |
399 | E>D | No |
ClinGen gnomAD |
|
rs1339179097 CA395707986 |
399 | E>G | No |
ClinGen gnomAD |
|
CA395708033 rs1336153790 |
400 | P>Q | No |
ClinGen gnomAD |
|
rs760488562 CA8025025 |
400 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1319773067 CA395708062 |
401 | R>L | No |
ClinGen Ensembl |
|
rs1448803842 CA395708064 |
402 | A>T | No |
ClinGen TOPMed gnomAD |
|
rs1194249329 CA395708113 |
404 | R>C | No |
ClinGen gnomAD |
|
rs1241713679 CA395708223 |
406 | P>S | No |
ClinGen gnomAD |
|
rs1191267964 CA395708253 |
407 | E>* | No |
ClinGen gnomAD |
|
TCGA novel | 407 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA395708268 rs1462524687 |
408 | R>G | No |
ClinGen TOPMed gnomAD |
|
TCGA novel | 408 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA395708295 rs1419672259 |
409 | R>W | No |
ClinGen gnomAD |
|
rs1326178389 CA395708337 |
411 | T>A | No |
ClinGen TOPMed gnomAD |
|
CA8025029 rs753481207 |
412 | R>C | No |
ClinGen ExAC gnomAD |
|
rs1326474252 CA395708393 |
412 | R>L | No |
ClinGen Ensembl |
|
CA8025030 rs761241218 |
413 | I>L | No |
ClinGen ExAC gnomAD |
|
rs1401903150 CA395708426 |
414 | G>C | No |
ClinGen gnomAD |
|
rs1393209259 CA395708428 |
414 | G>D | No |
ClinGen TOPMed gnomAD |
|
TCGA novel | 414 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1397706801 CA395708476 |
416 | Y>F | No |
ClinGen gnomAD |
|
CA8025032 rs749928208 |
417 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
rs868424182 CA280633123 |
417 | L>P | No |
ClinGen Ensembl |
|
CA280633134 rs866527463 |
418 | S>R | No |
ClinGen Ensembl |
|
CA395708543 rs1239264378 |
420 | G>A | No |
ClinGen TOPMed |
|
rs767985630 CA8025034 |
420 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs753097453 CA8025036 |
421 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
CA395708559 rs1352988351 |
421 | D>G | No |
ClinGen gnomAD |
|
CA395708572 rs777875525 |
422 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs777875525 CA8025037 |
422 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs757419145 CA8025039 |
423 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
CA395708590 rs757419145 |
423 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8025040 rs779193788 |
424 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
CA280633185 rs779193788 |
424 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs779193788 CA8025041 |
424 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1475407963 CA395708629 |
425 | S>A | No |
ClinGen gnomAD |
|
CA280633199 rs372751574 |
425 | S>F | No |
ClinGen ESP TOPMed |
|
rs372751574 CA280633195 |
425 | S>Y | No |
ClinGen ESP TOPMed |
|
rs1438452095 CA395708643 |
426 | F>L | No |
ClinGen TOPMed |
|
CA8025043 rs373379714 |
427 | Y>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1470153983 CA395708687 |
428 | D>E | No |
ClinGen TOPMed |
|
TCGA novel | 428 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA395708702 rs1158672388 |
429 | A>D | No |
ClinGen TOPMed gnomAD |
|
CA395708752 rs1417501127 |
431 | D>E | No |
ClinGen TOPMed gnomAD |
|
CA395708720 rs1567496211 |
431 | D>N | No |
ClinGen Ensembl |
|
rs1314317870 CA395708764 |
432 | A>D | No |
ClinGen gnomAD |
|
rs1314317870 CA395708774 |
432 | A>V | No |
ClinGen gnomAD |
|
CA395708785 rs1395781107 |
433 | D>N | No |
ClinGen gnomAD |
|
CA8025044 rs775530190 |
434 | A>P | No |
ClinGen ExAC gnomAD |
|
rs775530190 CA395708811 |
434 | A>T | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 436 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA395708855 rs1281267789 |
437 | P>L | No |
ClinGen TOPMed gnomAD |
|
CA8025047 rs776184212 |
437 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA395708960 rs1376279067 |
442 | H>R | No |
ClinGen TOPMed |
|
CA395708966 rs1253768290 |
443 | E>K | No |
ClinGen TOPMed gnomAD |
|
CA8025049 rs540011147 |
444 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs763394921 CA280633280 |
444 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
rs763394921 CA280633281 |
444 | R>L | No |
ClinGen TOPMed gnomAD |
|
rs1437272238 CA395709032 |
447 | R>W | No |
ClinGen gnomAD |
|
CA280633308 rs774706835 |
449 | V>M | No |
ClinGen gnomAD |
|
CA395709094 rs1257736020 |
451 | P>L | No |
ClinGen TOPMed |
|
rs1399010832 CA395709124 |
453 | F>V | No |
ClinGen gnomAD |
|
CA8025053 rs768038436 |
454 | D>N | No |
ClinGen ExAC gnomAD |
|
rs1374811767 CA395709162 |
455 | V>M | No |
ClinGen gnomAD |
|
rs865851823 CA280633389 |
456 | C>* | No |
ClinGen gnomAD |
|
CA395709199 rs865851823 |
456 | C>W | No |
ClinGen gnomAD |
|
CA8025055 rs756443702 |
457 | W>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
rs756443702 CA395709211 |
457 | W>C | No |
ClinGen ExAC gnomAD |
|
CA395709208 rs1347465972 |
457 | W>S | No |
ClinGen TOPMed gnomAD |
|
rs764589997 CA8025056 |
458 | H>N | No |
ClinGen ExAC |
|
rs1254046163 CA395709223 |
458 | H>R | No |
ClinGen gnomAD |
|
rs1196380044 CA395709262 |
460 | K>E | No |
ClinGen gnomAD |
|
rs1237461682 CA395709294 |
461 | G>S | No |
ClinGen gnomAD |
|
rs1456108372 CA395709350 |
464 | A>P | No |
ClinGen gnomAD |
|
rs866967489 CA280633398 |
464 | A>V | No |
ClinGen Ensembl |
|
CA8025057 rs754140169 |
465 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
CA395709377 rs1253042363 |
465 | Q>L | No |
ClinGen gnomAD |
|
CA280633401 rs889577918 |
466 | P>L | No |
ClinGen gnomAD |
|
CA395709432 rs1263643847 |
469 | L>F | No |
ClinGen gnomAD |
|
CA8025058 rs532226963 |
469 | L>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA8025060 rs544541955 |
470 | V>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA395709450 rs544541955 |
470 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
CA8025061 rs758502754 |
471 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs758502754 CA280633485 |
471 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs758502754 CA280633480 |
471 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8025063 rs746896769 |
473 | E>D | No |
ClinGen ExAC gnomAD |
|
rs1326666235 CA395709488 |
473 | E>G | No |
ClinGen gnomAD |
|
rs1289982121 CA395709500 |
474 | G>D | No |
ClinGen TOPMed |
|
CA395709506 rs1297992366 |
475 | A>S | No |
ClinGen gnomAD |
|
rs1257140829 CA395709524 |
476 | E>G | No |
ClinGen gnomAD |
|
CA395709542 rs1462536894 |
477 | A>D | No |
ClinGen TOPMed |
|
rs1316026147 CA395709565 |
478 | A>C | No |
ClinGen gnomAD |
|
rs1567496394 CA395709550 |
478 | A>R | No |
ClinGen Ensembl |
No associated diseases with Q6ZMU5
Functions
3 GO annotations of cellular component
Name | Definition |
---|---|
cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
cytoplasmic vesicle membrane | The lipid bilayer surrounding a cytoplasmic vesicle. |
sarcolemma | The outer membrane of a muscle cell, consisting of the plasma membrane, a covering basement membrane (about 100 nm thick and sometimes common to more than one fiber), and the associated loose network of collagen fibers. |
5 GO annotations of molecular function
Name | Definition |
---|---|
identical protein binding | Binding to an identical protein or proteins. |
phosphatidylserine binding | Binding to phosphatidylserine, a class of glycophospholipids in which a phosphatidyl group is esterified to the hydroxyl group of L-serine. |
ubiquitin conjugating enzyme binding | Binding to a ubiquitin conjugating enzyme, any of the E2 proteins. |
ubiquitin protein ligase activity | Catalysis of the transfer of ubiquitin to a substrate protein via the reaction X-ubiquitin + S -> X + S-ubiquitin, where X is either an E2 or E3 enzyme, the X-ubiquitin linkage is a thioester bond, and the S-ubiquitin linkage is an amide bond: an isopeptide bond between the C-terminal glycine of ubiquitin and the epsilon-amino group of lysine residues in the substrate or, in the linear extension of ubiquitin chains, a peptide bond the between the C-terminal glycine and N-terminal methionine of ubiquitin residues. |
zinc ion binding | Binding to a zinc ion (Zn). |
10 GO annotations of biological process
Name | Definition |
---|---|
exocytosis | A process of secretion by a cell that results in the release of intracellular molecules (e.g. hormones, matrix proteins) contained within a membrane-bounded vesicle. Exocytosis can occur either by full fusion, when the vesicle collapses into the plasma membrane, or by a kiss-and-run mechanism that involves the formation of a transient contact, a pore, between a granule (for exemple of chromaffin cells) and the plasma membrane. The latter process most of the time leads to only partial secretion of the granule content. Exocytosis begins with steps that prepare vesicles for fusion with the membrane (tethering and docking) and ends when molecules are secreted from the cell. |
muscle organ development | The process whose specific outcome is the progression of the muscle over time, from its formation to the mature structure. The muscle is an organ consisting of a tissue made up of various elongated cells that are specialized to contract and thus to produce movement and mechanical work. |
muscle system process | A organ system process carried out at the level of a muscle. Muscle tissue is composed of contractile cells or fibers. |
negative regulation of insulin receptor signaling pathway | Any process that stops, prevents, or reduces the frequency, rate or extent of insulin receptor signaling. |
negative regulation of insulin-like growth factor receptor signaling pathway | Any process that stops, prevents, or reduces the frequency, rate or extent of insulin-like growth factor receptor signaling. |
negative regulation of myotube differentiation | Any process that decreases the frequency, rate or extent of myotube differentiation. Myotube differentiation is the process in which a relatively unspecialized cell acquires specialized features of a myotube cell. Myotubes are multinucleated cells that are formed when proliferating myoblasts exit the cell cycle, differentiate and fuse. |
plasma membrane repair | The resealing of a cell plasma membrane after cellular wounding due to, for instance, mechanical stress. |
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 homooligomerization | The process of creating protein oligomers, compounds composed of a small number, usually between three and ten, of identical component monomers. Oligomers may be formed by the polymerization of a number of monomers or the depolymerization of a large protein polymer. |
protein ubiquitination | The process in which one or more ubiquitin groups are added to a protein. |
49 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 |
Q9BTV5 | FSD1 | Fibronectin type III and SPRY domain-containing protein 1 | Homo sapiens (Human) | PR |
Q9UJV3 | MID2 | Probable E3 ubiquitin-protein ligase MID2 | Homo sapiens (Human) | PR |
P29590 | PML | Protein PML | 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 |
Q2Q1W2 | TRIM71 | E3 ubiquitin-protein ligase TRIM71 | Homo sapiens (Human) | PR |
Q9BXM9 | FSD1L | FSD1-like protein | Homo sapiens (Human) | PR |
Q9H2S5 | RNF39 | RING finger protein 39 | Homo sapiens (Human) | PR |
Q86UV7 | TRIM73 | Tripartite motif-containing protein 73 | Homo sapiens (Human) | PR |
Q86XT4 | TRIM50 | E3 ubiquitin-protein ligase TRIM50 | Homo sapiens (Human) | PR |
Q9UPQ4 | TRIM35 | E3 ubiquitin-protein ligase TRIM35 | Homo sapiens (Human) | PR |
Q9BZY9 | TRIM31 | E3 ubiquitin-protein ligase TRIM31 | Homo sapiens (Human) | PR |
Q9C029 | TRIM7 | E3 ubiquitin-protein ligase TRIM7 | Homo sapiens (Human) | PR |
O15553 | MEFV | Pyrin | Homo sapiens (Human) | SS |
A6NCK2 | TRIM43B | Tripartite motif-containing protein 43B | Homo sapiens (Human) | PR |
Q8N9V2 | TRIML1 | Probable E3 ubiquitin-protein ligase TRIML1 | Homo sapiens (Human) | PR |
P19474 | TRIM21 | E3 ubiquitin-protein ligase TRIM21 | Homo sapiens (Human) | PR |
Q14142 | TRIM14 | Tripartite motif-containing protein 14 | Homo sapiens (Human) | PR |
A6NK02 | TRIM75 | Tripartite motif-containing protein 75 | Homo sapiens (Human) | PR |
Q5EBN2 | TRIM61 | Putative tripartite motif-containing protein 61 | 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 |
Q60953 | Pml | Protein PML | 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 |
Q1XH17 | Trim72 | Tripartite motif-containing protein 72 | 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 |
Q810I1 | Trim50 | E3 ubiquitin-protein ligase TRIM50 | Rattus norvegicus (Rat) | PR |
D3ZVM4 | Trim71 | E3 ubiquitin-protein ligase TRIM71 | Rattus norvegicus (Rat) | PR |
A0JPQ4 | Trim72 | Tripartite motif-containing protein 72 | 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 |
MSAAPGLLHQ | ELSCPLCLQL | FDAPVTAECG | HSFCRACLGR | VAGEPAADGT | VLCPCCQAPT |
70 | 80 | 90 | 100 | 110 | 120 |
RPQALSTNLQ | LARLVEGLAQ | VPQGHCEEHL | DPLSIYCEQD | RALVCGVCAS | LGSHRGHRLL |
130 | 140 | 150 | 160 | 170 | 180 |
PAAEAHARLK | TQLPQQKLQL | QEACMRKEKS | VAVLEHQLVE | VEETVRQFRG | AVGEQLGKMR |
190 | 200 | 210 | 220 | 230 | 240 |
VFLAALEGSL | DREAERVRGE | AGVALRRELG | SLNSYLEQLR | QMEKVLEEVA | DKPQTEFLMK |
250 | 260 | 270 | 280 | 290 | 300 |
YCLVTSRLQK | ILAESPPPAR | LDIQLPIISD | DFKFQVWRKM | FRALMPALEE | LTFDPSSAHP |
310 | 320 | 330 | 340 | 350 | 360 |
SLVVSSSGRR | VECSEQKAPP | AGEDPRQFDK | AVAVVAHQQL | SEGEHYWEVD | VGDKPRWALG |
370 | 380 | 390 | 400 | 410 | 420 |
VIAAEAPRRG | RLHAVPSQGL | WLLGLREGKI | LEAHVEAKEP | RALRSPERRP | TRIGLYLSFG |
430 | 440 | 450 | 460 | 470 | |
DGVLSFYDAS | DADALVPLFA | FHERLPRPVY | PFFDVCWHDK | GKNAQPLLLV | GPEGAEA |