P45974
PR
Gene name |
USP5 (ISOT) |
Protein name |
Ubiquitin carboxyl-terminal hydrolase 5 |
Names |
Deubiquitinating enzyme 5, Isopeptidase T, Ubiquitin thioesterase 5, Ubiquitin-specific-processing protease 5 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:8078 |
EC number |
3.4.19.12: Omega peptidases |
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
13 structures for P45974
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2DAG | NMR | - | A | 655-715 | PDB |
| 2DAK | NMR | - | A | 723-772 | PDB |
| 2G43 | X-ray | 209 A | A/B | 163-291 | PDB |
| 2G45 | X-ray | 199 A | A/D | 163-291 | PDB |
| 3IHP | X-ray | 280 A | A/B | 1-858 | PDB |
| 6DXH | X-ray | 200 A | A | 171-290 | PDB |
| 6DXT | X-ray | 195 A | A/B | 171-290 | PDB |
| 6NFT | X-ray | 165 A | A/B | 171-290 | PDB |
| 6P9G | X-ray | 210 A | A | 171-290 | PDB |
| 7MS5 | X-ray | 198 A | A/B | 171-290 | PDB |
| 7MS6 | X-ray | 155 A | A | 171-290 | PDB |
| 7MS7 | X-ray | 145 A | A/B | 171-290 | PDB |
| AF-P45974-F1 | Predicted | AlphaFoldDB |
517 variants for P45974
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA383682547 rs1555126977 |
3 | E>Q | No |
ClinGen gnomAD |
|
|
CA383682554 rs1249283018 |
3 | E>V | No |
ClinGen TOPMed |
|
|
CA6417971 rs373402561 |
4 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1555126990 CA383682593 |
5 | S>C | No |
ClinGen gnomAD |
|
|
CA383682629 rs1555126996 |
6 | E>D | No |
ClinGen gnomAD |
|
|
CA383682623 rs1288604986 |
6 | E>G | No |
ClinGen TOPMed |
|
|
rs782811205 CA6417973 |
8 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1591601466 CA383682839 |
13 | L>F | No |
ClinGen Ensembl |
|
| TCGA novel | 13 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA383682852 rs1565527421 |
14 | P>L | No |
ClinGen Ensembl |
|
|
rs782767824 CA6417976 |
15 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs200956770 CA6417979 |
21 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200956770 CA232405515 |
21 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs192268986 CA6417980 |
21 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs782521858 CA6417981 |
24 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383683055 rs1591601532 |
25 | V>G | No |
ClinGen Ensembl |
|
|
CA232405540 rs978655751 |
25 | V>I | No |
ClinGen Ensembl |
|
|
rs369704794 CA232405556 |
26 | H>Q | No |
ClinGen ESP TOPMed |
|
|
CA383683135 rs925758808 |
28 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs782644519 CA6417982 |
31 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA6418003 rs782453250 |
38 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA6418004 rs782567305 |
40 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs782287975 CA6418005 CA383684591 |
40 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383684618 rs1487603871 |
43 | L>F | No |
ClinGen TOPMed |
|
|
rs149569083 COSM942964 COSM1586715 CA6418006 |
49 | T>M | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA383684767 rs1555127903 |
52 | G>D | No |
ClinGen gnomAD |
|
|
COSM1747220 CA383684836 COSM1747219 rs1555127911 |
56 | Q>H | urinary_tract [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA6418009 rs782363195 |
59 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1055409746 CA232408634 |
61 | H>R | No |
ClinGen Ensembl |
|
|
CA6418011 rs782203984 |
63 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1197740865 CA383684942 |
63 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA383684955 rs1555127926 |
64 | K>Q | No |
ClinGen gnomAD |
|
|
CA6418014 rs782121425 |
66 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs782747738 CA6418015 |
67 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
COSM1704998 COSM1704997 CA6418017 rs782080206 |
68 | R>Q | skin [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs995052094 CA232408692 |
72 | H>Q | No |
ClinGen Ensembl |
|
|
rs781788655 CA6418019 |
72 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA383685082 rs1555127936 |
73 | L>F | No |
ClinGen gnomAD |
|
|
CA6418021 rs782807103 COSM431762 COSM1133966 |
74 | R>Q | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1027149668 CA232408724 |
74 | R>W | No |
ClinGen Ensembl |
|
|
CA6418024 rs201018774 |
75 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6418023 rs782513444 |
75 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA383685122 rs1396702195 |
76 | T>I | No |
ClinGen TOPMed |
|
|
rs782574953 CA6418027 |
77 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs377361007 CA6418025 |
77 | R>W | No |
ClinGen ESP ExAC gnomAD |
|
|
CA6418028 rs370387076 |
78 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs782411696 CA6418029 |
78 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA6418030 rs373785473 |
79 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1555128039 CA383685218 |
82 | E>K | No |
ClinGen gnomAD |
|
|
rs1488368204 CA383685247 |
84 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA6418055 rs782102759 |
85 | A>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 85 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782344516 CA6418056 |
85 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA232409064 rs1003943370 |
86 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1349602827 CA383685324 |
91 | P>Q | No |
ClinGen TOPMed |
|
| TCGA novel | 92 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs200475983 CA6418059 |
93 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6418058 rs201872573 |
93 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs997839921 CA232409085 |
94 | K>T | No |
ClinGen Ensembl |
|
|
rs868937792 CA383685357 |
96 | P>S | No |
ClinGen Ensembl |
|
|
CA383685366 rs1555128069 |
97 | T>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs781796767 CA232409105 |
98 | R>Q | No |
ClinGen TOPMed |
|
|
CA6418061 rs782110378 |
98 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6418076 rs782318022 |
104 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383685478 rs1199683776 |
105 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA383685485 rs1256756399 |
106 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA383685514 rs1341209493 |
108 | D>N | No |
ClinGen TOPMed |
|
|
rs367652776 CA6418079 |
109 | L>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1394299299 CA383685544 |
110 | S>N | No |
ClinGen TOPMed |
|
|
CA383685556 rs182182969 |
110 | S>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs371404734 CA6418082 |
111 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6418083 rs781812005 |
111 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383685580 rs868993202 |
112 | E>D | No |
ClinGen Ensembl |
|
|
rs782149311 CA6418084 |
113 | K>M | No |
ClinGen ExAC gnomAD |
|
|
rs1399236127 CA383685635 |
116 | L>S | No |
ClinGen TOPMed |
|
|
rs139334200 CA383685653 |
117 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs781856774 CA6418086 |
118 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6418087 rs782514195 |
120 | V>M | No |
ClinGen ExAC |
|
|
CA383685704 rs1421489867 |
121 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA6418090 rs782436774 |
127 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1457649320 CA383685829 |
130 | E>V | No |
ClinGen TOPMed |
|
|
CA383685860 rs1555128175 |
132 | A>V | No |
ClinGen Ensembl |
|
|
CA6418095 rs782250627 |
133 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA6418094 rs782618676 |
133 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA6418097 rs781927873 |
137 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383685911 rs781927873 |
137 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6418096 rs782366690 |
137 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6418098 rs782203923 |
138 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1265334051 CA383685929 |
139 | L>Q | No |
ClinGen TOPMed |
|
|
CA6418099 rs782408714 |
141 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383685957 rs1310316628 |
142 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs369790819 CA383686004 |
146 | R>G | No |
ClinGen ESP ExAC gnomAD |
|
|
rs369790819 COSM179597 CA6418102 |
146 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA gnomAD |
|
rs782791191 CA6418122 |
149 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383686089 rs1555128269 |
150 | A>T | No |
ClinGen gnomAD |
|
|
rs1555128271 CA383686100 |
151 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA6418124 rs782021481 |
152 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA383686126 rs1591605595 |
153 | A>S | No |
ClinGen Ensembl |
|
|
rs781816036 CA6418126 |
155 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782095332 CA6418127 |
156 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 157 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs185830650 CA6418130 |
158 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs752595305 CA232409770 |
162 | R>C | No |
ClinGen gnomAD |
|
|
CA6418132 rs781878572 |
163 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA383686238 rs1555128289 |
163 | K>R | No |
ClinGen gnomAD |
|
|
rs1591605630 CA383686281 |
166 | V>G | No |
ClinGen Ensembl |
|
|
CA383686277 rs1565530080 |
166 | V>L | No |
ClinGen Ensembl |
|
|
rs1555128291 CA383686296 |
167 | Q>H | No |
ClinGen gnomAD |
|
|
rs1230709228 CA383686302 |
168 | A>E | No |
ClinGen TOPMed |
|
| TCGA novel | 169 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 169 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6418133 rs782471816 |
172 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1565530104 CA383686366 |
173 | V>E | No |
ClinGen Ensembl |
|
|
CA6418134 rs782627007 |
173 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6418136 rs782324656 |
174 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs200472768 COSM1676681 CA6418135 COSM1676680 |
174 | R>W | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
| TCGA novel | 175 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782293734 CA6418138 |
176 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA6418139 rs782370913 |
177 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs1555128307 CA383686424 |
179 | H>P | No |
ClinGen gnomAD |
|
|
rs782076351 CA6418141 |
179 | H>Q | No |
ClinGen ExAC TOPMed |
|
|
rs1555128307 CA383686425 |
179 | H>R | No |
ClinGen gnomAD |
|
|
rs1555128309 CA383686441 |
180 | A>V | No |
ClinGen gnomAD |
|
|
rs140761461 CA232409831 |
182 | S>N | No |
ClinGen ESP TOPMed |
|
|
CA383686469 rs1555128312 |
183 | L>V | No |
ClinGen Ensembl |
|
|
CA6418142 rs575404753 |
184 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1049486177 CA232409838 |
185 | Q>R | No |
ClinGen Ensembl |
|
|
CA6418143 rs781946029 |
187 | D>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA6418145 rs782148625 |
188 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6418144 rs782148625 |
188 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383686543 rs1555128322 |
191 | R>* | No |
ClinGen gnomAD |
|
|
rs1425031899 CA383686544 COSM1363952 COSM1363953 |
191 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA6418146 rs781857067 |
195 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs200151898 CA6418167 |
198 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1555128408 CA383686676 |
198 | K>R | No |
ClinGen gnomAD |
|
|
CA6418168 rs782142448 |
199 | C>G | No |
ClinGen ExAC gnomAD |
|
|
rs782142448 CA383686682 |
199 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA383686717 rs781850878 |
201 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA6418171 rs782523415 |
201 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs781850878 CA6418170 |
201 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA383686884 rs1555128418 |
206 | E>D | No |
ClinGen gnomAD |
|
|
rs782716586 CA6418172 |
210 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782463625 CA383686953 |
211 | N>I | No |
ClinGen ExAC gnomAD |
|
|
CA6418174 rs782463625 |
211 | N>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 215 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1591605930 CA383687128 |
221 | R>Q | No |
ClinGen Ensembl |
|
|
rs1555128429 CA383687191 |
223 | Y>C | No |
ClinGen gnomAD |
|
|
rs782359789 CA6418180 |
225 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1555128430 CA383687262 |
225 | D>V | No |
ClinGen gnomAD |
|
|
CA6418182 rs782197717 |
227 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1565530375 CA383687385 |
230 | N>H | No |
ClinGen Ensembl |
|
|
CA6418183 rs782405613 |
231 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA232410187 rs902194020 |
236 | H>N | No |
ClinGen Ensembl |
|
|
CA383687617 rs1555128437 |
238 | R>* | No |
ClinGen gnomAD |
|
|
CA6418186 rs200723728 |
238 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA232410194 rs370833306 |
239 | E>Q | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1565530409 CA383687669 |
241 | G>D | No |
ClinGen Ensembl |
|
|
rs781951093 CA6418187 |
242 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA232410225 rs373947454 |
243 | P>A | No |
ClinGen ESP TOPMed |
|
|
rs1308021391 CA383687708 |
243 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA383687703 rs373947454 |
243 | P>S | No |
ClinGen ESP TOPMed |
|
|
rs781894301 CA6418190 |
245 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6418191 rs782561125 |
247 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1555128453 CA383687925 |
251 | I>V | No |
ClinGen gnomAD |
|
|
CA6418194 COSM95485 rs782768886 |
252 | T>I | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA6418193 rs781876179 |
252 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA6418195 rs782612559 |
254 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA383688051 rs1364191926 |
256 | A>P | No |
ClinGen TOPMed |
|
|
rs200664735 CA6418211 |
258 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
CA383689739 rs1245081906 |
261 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1051687346 CA232410866 |
270 | P>T | No |
ClinGen gnomAD |
|
|
rs1591606543 CA383690012 |
271 | S>N | No |
ClinGen Ensembl |
|
|
rs889141466 CA232410870 |
273 | A>T | No |
ClinGen Ensembl |
|
|
rs1555128633 CA383690161 |
275 | H>Q | No |
ClinGen gnomAD |
|
|
rs1555128637 CA383690242 |
278 | H>R | No |
ClinGen gnomAD |
|
|
rs782730198 CA6418217 |
280 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs373385702 CA6418220 |
282 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
CA6418222 rs782462726 |
283 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1181551736 CA383690437 |
285 | K>E | No |
ClinGen TOPMed |
|
|
CA383690464 rs1555128654 |
286 | M>L | No |
ClinGen gnomAD |
|
|
CA383690697 rs1555128814 |
290 | D>E | No |
ClinGen gnomAD |
|
|
CA6418244 rs781879576 |
292 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs1555128821 CA383690781 |
293 | M>I | No |
ClinGen gnomAD |
|
|
rs1555128820 CA383690761 |
293 | M>T | No |
ClinGen gnomAD |
|
|
rs1555128824 CA383690797 |
294 | T>I | No |
ClinGen gnomAD |
|
|
rs1046568478 CA232411432 |
295 | E>D | No |
ClinGen Ensembl |
|
| TCGA novel | 298 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA383691022 rs1372448441 |
302 | Q>R | No |
ClinGen TOPMed |
|
|
rs1425977684 CA383691043 |
303 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA383691041 rs1295979851 |
303 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs371666955 CA6418246 |
312 | E>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
CA6418252 rs782409014 |
318 | K>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782199741 CA6418250 |
318 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA6418251 rs782409014 |
318 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1423190909 CA383691564 |
319 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA383691653 rs1182897419 |
323 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs376240882 CA6418253 |
325 | Y>H | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 327 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA383691812 rs1419034323 |
328 | I>V | No |
ClinGen TOPMed |
|
|
CA6418256 rs202049140 |
329 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6418255 rs183579487 |
329 | R>W | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs782760032 CA6418260 |
339 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs1002375947 CA232411550 |
341 | V>A | No |
ClinGen TOPMed |
|
|
CA383692216 rs1002375947 |
341 | V>D | No |
ClinGen TOPMed |
|
| TCGA novel | 342 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781876799 CA6418261 |
349 | D>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 351 | Q>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA232411562 rs1015907962 |
352 | R>K | No |
ClinGen TOPMed |
|
|
CA383692655 rs1356055686 |
353 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1315405427 CA383692983 |
354 | Y>C | No |
ClinGen TOPMed |
|
|
rs1555129018 CA383692964 |
354 | Y>H | No |
ClinGen gnomAD |
|
|
rs1555129019 CA383693004 |
355 | V>M | No |
ClinGen gnomAD |
|
|
rs782170638 CA6418288 |
356 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383693028 rs782170638 |
356 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782458301 CA6418289 |
357 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA6418290 rs782069015 |
359 | E>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6418292 rs141770469 |
361 | I>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA383693269 rs1442276604 |
362 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA6418293 rs782607859 |
363 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
rs890105905 CA232412176 |
366 | P>L | No |
ClinGen gnomAD |
|
|
rs782311944 CA6418295 |
367 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6418300 rs200040016 |
371 | Q>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6418301 rs782725933 |
372 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA383693600 rs1555129049 |
374 | S>N | No |
ClinGen gnomAD |
|
|
rs1555129052 CA383693657 |
376 | Q>R | No |
ClinGen gnomAD |
|
| TCGA novel | 378 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA383694172 rs1555129210 |
386 | S>C | No |
ClinGen gnomAD |
|
|
CA6418332 rs782661613 |
388 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA383694224 rs1555129212 |
389 | Y>N | No |
ClinGen gnomAD |
|
|
CA6418333 rs782205703 |
390 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA383694292 rs1555129218 |
392 | P>L | No |
ClinGen gnomAD |
|
|
rs782024660 CA6418338 |
394 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782024660 CA383694334 |
394 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6418337 rs782402534 |
394 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs376295117 CA6418340 |
396 | S>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA6418341 rs376295117 |
396 | S>W | No |
ClinGen ESP ExAC gnomAD |
|
|
CA6418343 rs146283615 |
397 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6418345 rs202082979 |
398 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6418346 rs782767638 |
399 | G>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 401 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA383694491 rs1248020900 |
401 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs782477687 CA6418348 |
402 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs1187233460 CA383694499 |
402 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1187233460 CA383694502 |
402 | V>M | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 404 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6418367 rs781886474 |
408 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA383694739 rs1167044355 |
408 | V>I | No |
ClinGen TOPMed |
|
|
CA232413224 rs898545059 |
410 | D>G | No |
ClinGen Ensembl |
|
|
rs1056278578 CA232413217 |
410 | D>N | No |
ClinGen Ensembl |
|
|
CA6418371 rs782468411 |
415 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA6418370 rs781865814 |
415 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6418372 rs782564011 |
419 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs931404628 CA232413247 |
420 | L>V | No |
ClinGen Ensembl |
|
|
CA383695146 rs1591608395 |
421 | I>T | No |
ClinGen Ensembl |
|
|
rs1181403148 CA383695140 |
421 | I>V | No |
ClinGen TOPMed |
|
|
CA6418374 rs200353491 |
422 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1482825317 CA383695481 |
431 | N>S | No |
ClinGen TOPMed |
|
|
rs782249338 CA6418376 COSM942989 COSM1152569 |
437 | Q>H | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA6418380 rs782305009 |
444 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1555129287 CA383695794 |
444 | I>V | No |
ClinGen gnomAD |
|
|
CA6418381 rs149515919 |
445 | N>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA383695881 rs1227308007 |
447 | V>A | No |
ClinGen TOPMed |
|
|
rs782552744 CA6418382 |
447 | V>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6418400 rs782388586 |
449 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs1555129412 CA383696072 |
452 | R>G | No |
ClinGen gnomAD |
|
|
CA6418401 rs781950021 |
452 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383696080 rs1555129412 |
452 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1011319988 CA232413631 |
462 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
| TCGA novel | 463 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782333998 COSM1232090 CA6418403 COSM1232089 |
465 | V>M | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA383696296 rs1555129421 |
467 | E>* | No |
ClinGen gnomAD |
|
|
rs1555129424 CA383696307 |
468 | K>T | No |
ClinGen gnomAD |
|
|
CA6418407 rs781872815 |
472 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1555129427 CA383696369 |
473 | A>V | No |
ClinGen gnomAD |
|
|
CA383696381 rs1555129429 |
475 | E>K | No |
ClinGen gnomAD |
|
|
rs1555129430 CA383696411 |
477 | V>L | No |
ClinGen gnomAD |
|
|
rs782751188 CA6418409 |
482 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA6418410 rs201977667 |
483 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1555129434 CA383697079 |
484 | D>N | No |
ClinGen gnomAD |
|
|
CA383697158 rs1555129436 |
485 | Y>C | No |
ClinGen gnomAD |
|
|
CA383697190 rs782450306 |
487 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA6418411 rs782450306 |
487 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1802898 CA232414851 |
490 | P>S | No |
ClinGen Ensembl |
|
|
rs1555129443 CA383697297 |
491 | V>M | No |
ClinGen gnomAD |
|
|
CA6418413 rs781900287 |
492 | P>S | Variant assessed as Somatic; 4.621e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1555129450 CA383697374 |
493 | M>T | No |
ClinGen gnomAD |
|
|
CA383697362 rs1555129448 |
493 | M>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs781821985 CA6418416 |
494 | D>ATLMLKYISFVSNFV* | No |
ClinGen ExAC |
|
|
CA232414869 rs782483420 |
495 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA6418417 rs782635641 |
496 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs1555129456 CA383697493 |
497 | L>F | No |
ClinGen gnomAD |
|
| TCGA novel | 499 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 502 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6418437 rs782688494 |
503 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782256062 CA383697995 |
506 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383697957 rs1247525332 |
506 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs782242694 CA232415175 |
508 | K>R | No |
ClinGen gnomAD |
|
|
CA6418442 rs782594146 |
509 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782232671 CA6418443 |
509 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs781936322 CA383698114 |
510 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781936322 CA6418445 |
510 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383698108 rs1346885129 |
510 | R>W | No |
ClinGen TOPMed |
|
|
CA6418446 rs79430235 |
511 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA383698202 rs1287836452 |
513 | E>D | No |
ClinGen TOPMed |
|
|
COSM942990 COSM1586711 rs372092060 CA6418448 |
513 | E>K | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs965469390 CA232415212 |
514 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 514 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA383698227 rs1555129540 |
515 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 515 | E>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6418449 rs782133247 |
516 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1555129542 CA383698364 |
519 | L>P | No |
ClinGen gnomAD |
|
|
rs782730700 CA6418450 |
520 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383698408 rs1360610439 |
521 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs781964611 CA6418452 |
522 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA6418454 rs782790631 |
523 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA6418453 rs199632125 |
523 | V>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA383698474 rs1413496428 |
524 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA6418455 rs781905870 |
524 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1413496428 CA383698475 |
524 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA6418456 rs782120052 |
525 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6418457 rs782779049 |
525 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1184915525 CA383698516 |
526 | Q>E | No |
ClinGen TOPMed |
|
|
COSM942991 rs1555129565 CA383698529 COSM1586710 |
526 | Q>H | endometrium [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1484274209 CA383698524 |
526 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA383698549 rs1238053650 |
527 | V>G | No |
ClinGen TOPMed |
|
|
rs868932016 CA383698568 |
528 | P>L | No |
ClinGen Ensembl |
|
|
CA6418459 rs782496274 |
530 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA383698693 rs1555129572 |
533 | L>V | No |
ClinGen gnomAD |
|
|
CA383698807 rs1555129574 |
536 | Y>C | No |
ClinGen gnomAD |
|
|
CA383698816 rs1555129577 |
537 | G>R | No |
ClinGen gnomAD |
|
|
COSM1747222 CA383698963 COSM1747221 rs1555129581 |
543 | D>N | urinary_tract [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1555129587 CA383699046 |
546 | W>G | No |
ClinGen gnomAD |
|
|
rs782668421 CA6418463 |
547 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA383699096 rs782241158 |
548 | T>K | No |
ClinGen ExAC gnomAD |
|
|
CA6418464 rs782241158 |
548 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs1555129782 CA383699570 |
561 | R>* | No |
ClinGen gnomAD |
|
|
rs1555129784 CA383699572 |
561 | R>Q | No |
ClinGen gnomAD |
|
|
rs1555129785 CA383699636 |
564 | S>* | No |
ClinGen gnomAD |
|
|
CA6418488 rs782260845 |
564 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383699670 rs1555129786 |
565 | F>C | No |
ClinGen gnomAD |
|
|
rs367656277 CA6418490 |
575 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1345485070 CA383699945 |
577 | T>S | No |
ClinGen TOPMed |
|
|
COSM212499 rs1555129796 CA383699999 |
579 | G>S | breast [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs148640344 CA6418492 |
580 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 585 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6418495 rs782028656 |
585 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6418496 rs781993259 |
586 | K>T | No |
ClinGen ExAC |
|
|
CA383701373 rs1555129918 |
592 | E>K | No |
ClinGen gnomAD |
|
|
rs562492316 CA232416387 |
598 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA383701593 rs147989718 |
599 | I>M | No |
ClinGen gnomAD |
|
|
rs781983707 CA6418510 |
601 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA383701727 rs1172951306 |
605 | T>I | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 607 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs61761597 CA6418513 |
609 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6418516 rs782013983 |
610 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6418515 rs782724492 |
610 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383701832 rs1555129942 |
612 | E>V | No |
ClinGen gnomAD |
|
|
rs1555129945 CA383701875 |
615 | P>Q | No |
ClinGen gnomAD |
|
|
CA232416438 rs902571081 |
617 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs879953347 CA383701914 |
618 | A>G | No |
ClinGen gnomAD |
|
|
CA383701947 rs1486213283 |
620 | P>S | No |
ClinGen TOPMed |
|
|
rs782782258 CA6418518 |
624 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA6418519 rs781827570 |
627 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs782496963 COSM1735210 CA6418520 |
629 | G>V | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC |
| TCGA novel | 631 | L>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1555129960 CA383702254 |
634 | Y>C | No |
ClinGen gnomAD |
|
|
rs369749430 CA6418521 |
635 | G>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA6418524 rs782533645 |
639 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383702351 rs1226764160 |
639 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA232416475 rs960766466 |
641 | S>F | No |
ClinGen TOPMed |
|
|
rs782243971 CA6418527 |
642 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs1394258429 CA383702484 |
646 | H>Q | No |
ClinGen TOPMed |
|
|
CA6418528 rs782516613 |
647 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1398530211 CA383702506 |
648 | S>F | No |
ClinGen TOPMed |
|
| TCGA novel | 649 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6418529 rs782594555 |
650 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| rs372248919 | 652 | S>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA383702658 rs1555130089 |
652 | S>L | No |
ClinGen gnomAD |
|
| TCGA novel | 653 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1555130093 CA383702723 |
654 | M>I | No |
ClinGen gnomAD |
|
|
rs782525911 CA6418549 |
657 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA383702834 rs1555130101 |
659 | V>F | No |
ClinGen gnomAD |
|
|
rs1555130105 CA383702854 |
660 | I>V | No |
ClinGen gnomAD |
|
|
CA383702911 rs370840242 |
661 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs782347361 CA383702921 |
662 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA6418552 rs782347361 |
662 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs1555130108 CA383702926 |
662 | Q>R | No |
ClinGen gnomAD |
|
|
rs782333337 CA6418555 |
670 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs782184177 CA6418554 |
670 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1555130114 CA383703173 |
671 | D>A | No |
ClinGen gnomAD |
|
|
CA6418557 rs782558662 |
672 | A>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6418558 rs782558662 |
672 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6418559 rs139483668 |
674 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1512934 rs782070238 CA6418560 COSM1512933 |
674 | R>H | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs782070238 CA232416781 |
674 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383703310 rs1555130119 |
677 | V>A | No |
ClinGen gnomAD |
|
|
rs782737979 CA6418561 |
678 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA383703349 rs1555130124 |
679 | Y>C | No |
ClinGen gnomAD |
|
|
rs781784628 CA6418562 |
679 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA383703360 rs1555130125 |
680 | T>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA383703368 rs1168822471 |
681 | G>D | No |
ClinGen TOPMed |
|
|
rs781897929 CA6418565 |
682 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA232416808 rs923761206 |
684 | G>E | No |
ClinGen Ensembl |
|
|
CA383703402 rs1555130134 |
684 | G>R | No |
ClinGen gnomAD |
|
|
CA383703410 rs1555130137 |
685 | A>D | No |
ClinGen gnomAD |
|
|
CA383703423 rs1555130138 |
687 | A>T | No |
ClinGen gnomAD |
|
|
rs1555130143 CA383703432 COSM942995 COSM1586706 |
688 | A>V | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA6418569 rs782437368 |
689 | M>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1555130145 CA383703445 |
690 | N>S | No |
ClinGen gnomAD |
|
|
CA383703456 rs1555130148 |
691 | W>C | No |
ClinGen gnomAD |
|
|
CA6418570 rs374165611 |
695 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1555130150 CA383703512 |
699 | P>A | No |
ClinGen gnomAD |
|
|
rs367735890 CA232416854 |
699 | P>L | No |
ClinGen ESP TOPMed |
|
|
rs1555130152 CA383703516 |
700 | D>N | No |
ClinGen gnomAD |
|
|
CA232416916 rs1006417106 |
703 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1555130180 CA383703559 |
704 | P>S | No |
ClinGen gnomAD |
|
|
CA383703563 rs1395474723 |
705 | L>I | No |
ClinGen TOPMed |
|
|
CA383703568 rs1165299925 |
705 | L>R | No |
ClinGen TOPMed |
|
|
CA6418583 rs781956915 |
706 | I>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 707 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1423032127 CA383703594 |
710 | S>A | No |
ClinGen TOPMed |
|
|
CA383703596 rs1555130184 |
710 | S>C | No |
ClinGen gnomAD |
|
|
CA6418584 rs782099215 |
711 | S>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1555130187 CA383703602 |
711 | S>I | No |
ClinGen gnomAD |
|
|
CA232416932 rs1015166163 |
712 | G>W | No |
ClinGen TOPMed gnomAD |
|
|
rs897986664 CA232416942 |
713 | P>L | No |
ClinGen gnomAD |
|
| TCGA novel | 714 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 714 | G>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1030925355 CA232416957 |
715 | S>P | No |
ClinGen gnomAD |
|
|
rs1030925355 CA383703621 |
715 | S>T | No |
ClinGen gnomAD |
|
|
CA232416958 rs955122938 |
716 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA6418586 rs781808082 |
717 | S>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 717 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs202087351 CA232416978 |
718 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1555130194 CA383703648 |
719 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 720 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1591611184 CA383703657 |
721 | D>A | No |
ClinGen Ensembl |
|
|
CA383703655 rs782524704 |
721 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6418590 COSM95486 rs782524704 |
721 | D>N | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA6418592 rs782222761 |
722 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs782587305 CA6418591 |
722 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA6418593 rs782424731 |
723 | P>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 723 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6418595 rs201277720 |
723 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs782424731 CA6418594 |
723 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs782424731 CA383703666 |
723 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs782422525 CA6418596 |
724 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs373866739 CA6418598 COSM942996 COSM1586705 |
726 | D>E | endometrium [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs1555130206 CA383703692 |
727 | C>Y | No |
ClinGen gnomAD |
|
|
CA383703716 rs1555130208 |
731 | I>V | No |
ClinGen gnomAD |
|
|
CA383703729 rs1555130211 |
733 | S>P | No |
ClinGen gnomAD |
|
|
CA6418601 rs181922891 |
738 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs781922758 CA6418600 |
738 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6418604 rs782124978 |
741 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA232417088 rs782652729 |
744 | A>V | No |
ClinGen gnomAD |
|
|
CA6418609 rs781800281 |
746 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA232417090 rs1045156691 |
746 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA6418611 rs782682274 |
747 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1176631670 CA383703821 |
748 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA6418612 rs781851417 |
748 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6418639 rs568667985 |
750 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1555130397 CA383703874 |
753 | E>G | No |
ClinGen gnomAD |
|
|
CA383703880 rs954823809 |
754 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
rs954823809 CA232417695 |
754 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
COSM1232092 COSM1232091 CA6418640 rs782318890 |
754 | R>W | liver large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1565534476 CA383703896 |
757 | D>N | No |
ClinGen Ensembl |
|
|
rs1555130404 CA383703911 |
758 | W>C | No |
ClinGen gnomAD |
|
|
rs1351446626 CA383703932 |
761 | S>N | No |
ClinGen TOPMed |
|
|
CA383703945 rs1555130408 |
763 | I>L | No |
ClinGen gnomAD |
|
|
CA383703949 rs1404751778 |
763 | I>T | No |
ClinGen TOPMed |
|
|
rs374187489 CA6418647 |
765 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6418649 rs782815514 |
770 | A>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 772 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1555130420 CA383704024 |
774 | I>F | No |
ClinGen gnomAD |
|
|
rs1555130425 CA383704047 |
777 | G>D | No |
ClinGen gnomAD |
|
|
CA383704043 rs1555130424 |
777 | G>S | No |
ClinGen gnomAD |
|
|
CA232417776 rs979035218 |
778 | R>C | No |
ClinGen gnomAD |
|
|
rs782752726 CA6418652 |
778 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs759118336 CA232417795 |
780 | A>P | No |
ClinGen Ensembl |
|
|
rs1176435678 CA383704083 |
782 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA6418654 rs376244475 |
784 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6418656 rs782577208 |
787 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA383704168 rs1320226499 |
788 | V>A | No |
ClinGen TOPMed |
|
|
rs370315542 CA6418657 |
788 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6418659 rs782623922 |
789 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA383704187 rs1555130446 |
790 | V>A | No |
ClinGen gnomAD |
|
|
CA6418661 rs781915951 |
791 | G>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1241449161 CA383704213 |
793 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA383704237 rs1555130456 |
794 | V>A | No |
ClinGen gnomAD |
|
|
rs1565534586 CA383704245 |
795 | R>Q | No |
ClinGen Ensembl |
|
|
rs1353117624 CA383704242 |
795 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA6418663 rs782192969 |
798 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA383704266 rs782192969 |
798 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA6418665 rs782039989 |
800 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1320252365 CA383704866 |
802 | Q>E | No |
ClinGen TOPMed |
|
|
CA383704923 rs1555130539 |
804 | F>V | No |
ClinGen gnomAD |
|
|
rs782689914 CA6418695 |
812 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA383705224 rs1591612336 |
812 | T>P | No |
ClinGen Ensembl |
|
|
CA6418699 rs781874072 |
815 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782647212 CA6418698 |
815 | M>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 816 | C>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6418702 rs782191384 |
820 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs782621306 CA6418701 |
820 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1555130570 CA383705457 |
823 | I>M | No |
ClinGen gnomAD |
|
|
rs1339538686 CA383705545 |
826 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA6418703 rs782332700 |
828 | R>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 830 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1296603713 CA383705999 |
839 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA232418924 rs929025403 |
841 | E>K | No |
ClinGen Ensembl |
|
|
CA6418723 rs782592225 |
843 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383706070 rs868984248 |
843 | P>S | No |
ClinGen Ensembl |
|
|
CA383706197 rs1423893892 |
850 | I>M | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 850 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1382913952 CA383706202 |
851 | Y>C | No |
ClinGen TOPMed |
|
|
CA383706217 rs1591613196 |
852 | F>V | No |
ClinGen Ensembl |
|
|
CA6418726 rs782637300 |
858 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1555130817 CA383706383 |
858 | S>N | No |
ClinGen gnomAD |
No associated diseases with P45974
2 regional properties for P45974
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | BTB/POZ domain | 266 - 457 | IPR000210-1 |
| domain | BTB/POZ domain | 476 - 583 | IPR000210-2 |
Functions
| Description | ||
|---|---|---|
| EC Number | 3.4.19.12 | Omega peptidases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| lysosome | A small lytic vacuole that has cell cycle-independent morphology found in most animal cells and that contains a variety of hydrolases, most of which have their maximal activities in the pH range 5-6. The contained enzymes display latency if properly isolated. About 40 different lysosomal hydrolases are known and lysosomes have a great variety of morphologies and functions. |
| 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. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| cysteine-type deubiquitinase activity | An thiol-dependent isopeptidase activity that cleaves ubiquitin from a target protein to which it is conjugated. |
| cysteine-type endopeptidase activity | Catalysis of the hydrolysis of internal, alpha-peptide bonds in a polypeptide chain by a mechanism in which the sulfhydryl group of a cysteine residue at the active center acts as a nucleophile. |
| ubiquitin binding | Binding to ubiquitin, a protein that when covalently bound to other cellular proteins marks them for proteolytic degradation. |
| zinc ion binding | Binding to a zinc ion (Zn). |
5 GO annotations of biological process
| Name | Definition |
|---|---|
| positive regulation of proteasomal ubiquitin-dependent protein catabolic process | Any process that activates or increases the frequency, rate or extent of 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 deubiquitination | The removal of one or more ubiquitin groups from a protein. |
| protein K48-linked deubiquitination | A protein deubiquitination process in which a K48-linked ubiquitin chain, i.e. a polymer of ubiquitin formed by linkages between lysine residues at position 48 of the ubiquitin monomers, is removed from a protein. |
| protein ubiquitination | The process in which one or more ubiquitin groups are added to a protein. |
| 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 a ubiquitin group, or multiple ubiquitin groups, to the protein. |
6 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q9UHP3 | USP25 | Ubiquitin carboxyl-terminal hydrolase 25 | Homo sapiens (Human) | EV |
| Q93009 | USP7 | Ubiquitin carboxyl-terminal hydrolase 7 | Homo sapiens (Human) | PR |
| Q96K76 | USP47 | Ubiquitin carboxyl-terminal hydrolase 47 | Homo sapiens (Human) | PR |
| Q92995 | USP13 | Ubiquitin carboxyl-terminal hydrolase 13 | Homo sapiens (Human) | PR |
| P56399 | Usp5 | Ubiquitin carboxyl-terminal hydrolase 5 | Mus musculus (Mouse) | PR |
| F6V6I0 | usp13 | Ubiquitin carboxyl-terminal hydrolase 13 | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAELSEEALL | SVLPTIRVPK | AGDRVHKDEC | AFSFDTPESE | GGLYICMNTF | LGFGKQYVER |
| 70 | 80 | 90 | 100 | 110 | 120 |
| HFNKTGQRVY | LHLRRTRRPK | EEDPATGTGD | PPRKKPTRLA | IGVEGGFDLS | EEKFELDEDV |
| 130 | 140 | 150 | 160 | 170 | 180 |
| KIVILPDYLE | IARDGLGGLP | DIVRDRVTSA | VEALLSADSA | SRKQEVQAWD | GEVRQVSKHA |
| 190 | 200 | 210 | 220 | 230 | 240 |
| FSLKQLDNPA | RIPPCGWKCS | KCDMRENLWL | NLTDGSILCG | RRYFDGSGGN | NHAVEHYRET |
| 250 | 260 | 270 | 280 | 290 | 300 |
| GYPLAVKLGT | ITPDGADVYS | YDEDDMVLDP | SLAEHLSHFG | IDMLKMQKTD | KTMTELEIDM |
| 310 | 320 | 330 | 340 | 350 | 360 |
| NQRIGEWELI | QESGVPLKPL | FGPGYTGIRN | LGNSCYLNSV | VQVLFSIPDF | QRKYVDKLEK |
| 370 | 380 | 390 | 400 | 410 | 420 |
| IFQNAPTDPT | QDFSTQVAKL | GHGLLSGEYS | KPVPESGDGE | RVPEQKEVQD | GIAPRMFKAL |
| 430 | 440 | 450 | 460 | 470 | 480 |
| IGKGHPEFST | NRQQDAQEFF | LHLINMVERN | CRSSENPNEV | FRFLVEEKIK | CLATEKVKYT |
| 490 | 500 | 510 | 520 | 530 | 540 |
| QRVDYIMQLP | VPMDAALNKE | ELLEYEEKKR | QAEEEKMALP | ELVRAQVPFS | SCLEAYGAPE |
| 550 | 560 | 570 | 580 | 590 | 600 |
| QVDDFWSTAL | QAKSVAVKTT | RFASFPDYLV | IQIKKFTFGL | DWVPKKLDVS | IEMPEELDIS |
| 610 | 620 | 630 | 640 | 650 | 660 |
| QLRGTGLQPG | EEELPDIAPP | LVTPDEPKGS | LGFYGNEDED | SFCSPHFSSP | TSPMLDESVI |
| 670 | 680 | 690 | 700 | 710 | 720 |
| IQLVEMGFPM | DACRKAVYYT | GNSGAEAAMN | WVMSHMDDPD | FANPLILPGS | SGPGSTSAAA |
| 730 | 740 | 750 | 760 | 770 | 780 |
| DPPPEDCVTT | IVSMGFSRDQ | ALKALRATNN | SLERAVDWIF | SHIDDLDAEA | AMDISEGRSA |
| 790 | 800 | 810 | 820 | 830 | 840 |
| ADSISESVPV | GPKVRDGPGK | YQLFAFISHM | GTSTMCGHYV | CHIKKEGRWV | IYNDQKVCAS |
| 850 | |||||
| EKPPKDLGYI | YFYQRVAS |