Q9Y2K6
PR
Gene name |
USP20 (KIAA1003, LSFR3A, VDU2) |
Protein name |
Ubiquitin carboxyl-terminal hydrolase 20 |
Names |
Deubiquitinating enzyme 20, Ubiquitin thioesterase 20, Ubiquitin-specific-processing protease 20, VHL-interacting deubiquitinating enzyme 2, hVDU2 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:10868 |
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
2 structures for Q9Y2K6
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 6KCZ | NMR | - | A | 1-99 | PDB |
| AF-Q9Y2K6-F1 | Predicted | AlphaFoldDB |
780 variants for Q9Y2K6
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA375194003 rs1333807802 |
2 | G>R | No |
ClinGen gnomAD |
|
|
rs1192905253 CA375194040 |
5 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA375194060 rs1240913749 |
6 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
rs762816267 CA5279178 |
9 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs569499058 CA5279179 |
11 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA200518522 rs569499058 |
11 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1267972435 CA375194142 |
13 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1212283856 CA375194147 |
13 | S>Y | No |
ClinGen gnomAD |
|
|
rs1250391923 CA375194154 |
14 | I>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 15 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751689814 CA5279180 |
16 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA5279182 rs745754307 |
18 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5279183 rs750490201 |
19 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA200518538 rs961914830 |
20 | E>* | No |
ClinGen TOPMed |
|
|
CA375194249 rs1197278537 |
21 | D>G | No |
ClinGen TOPMed |
|
|
rs1435385738 CA375194269 |
23 | L>M | No |
ClinGen gnomAD |
|
|
CA375194299 rs749703816 |
25 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA5279186 rs749703816 |
25 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA375194314 rs1393010324 |
26 | S>F | No |
ClinGen gnomAD |
|
|
CA375194319 rs777515945 |
27 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA5279188 rs777515945 |
27 | K>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1410372164 CA375195565 |
29 | T>A | No |
ClinGen Ensembl |
|
|
rs200105603 CA5279208 |
29 | T>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1194356764 CA375195592 |
30 | C>Y | No |
ClinGen gnomAD |
|
|
CA5279210 rs181271773 |
32 | S>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5279213 rs539214074 |
37 | G>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1588258609 CA375195732 |
38 | P>Q | No |
ClinGen Ensembl |
|
|
CA5279214 rs768624420 |
41 | W>C | No |
ClinGen ExAC gnomAD |
|
|
rs1399980900 CA375195789 |
42 | A>V | No |
ClinGen TOPMed |
|
|
rs1007959953 CA200524398 |
44 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
rs760831679 CA5279237 |
46 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA375196364 rs1306239981 |
47 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA5279238 rs201626785 |
49 | P>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1023537294 CA200525405 |
50 | Y>F | No |
ClinGen TOPMed |
|
|
rs1023537294 CA375196389 |
50 | Y>S | No |
ClinGen TOPMed |
|
|
rs913142518 CA200525423 |
53 | C>Y | No |
ClinGen TOPMed |
|
|
CA375196426 rs1345756745 |
54 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
COSM339543 COSM339542 rs1212998840 CA375196438 COSM339541 |
55 | E>K | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA375196476 CA375196479 rs10819568 |
57 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA200525435 rs765681428 |
58 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375196484 rs765681428 |
58 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765681428 CA5279241 COSM1314559 COSM1314558 COSM1314560 |
58 | A>T | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA375196505 rs1439951802 |
60 | H>R | No |
ClinGen gnomAD |
|
| TCGA novel | 61 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs753205413 CA5279242 |
62 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs764493523 CA5279244 |
63 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA375196538 rs1178958674 |
65 | A>S | No |
ClinGen gnomAD |
|
|
CA375196561 rs1484335334 |
67 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1361297026 CA375196579 |
69 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA5279262 rs764693521 |
70 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs191133247 CA375196611 |
74 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5279264 rs191133247 |
74 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs765971028 CA5279265 |
75 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA375196620 rs1248760282 |
75 | N>S | No |
ClinGen TOPMed |
|
|
rs1221800255 CA375196639 |
78 | T>M | No |
ClinGen gnomAD |
|
|
rs1474128838 CA375196648 |
80 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA375196650 rs1185328805 |
80 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs781726860 CA5279268 |
84 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs200946773 CA375196682 |
84 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752193950 CA5279271 |
85 | A>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 85 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs768052334 CA5279272 |
87 | E>K | No |
ClinGen TOPMed |
|
|
rs758400384 CA5279274 |
90 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5279275 rs777660423 |
94 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA5279277 rs770716278 |
95 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA5279276 rs746825367 |
95 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375196764 rs1588261880 |
97 | A>G | No |
ClinGen Ensembl |
|
|
CA375196761 rs1433835611 |
97 | A>P | No |
ClinGen TOPMed |
|
|
rs1232537505 CA375196769 |
98 | A>G | No |
ClinGen gnomAD |
|
|
CA375196770 rs1232537505 |
98 | A>V | No |
ClinGen gnomAD |
|
|
rs769893010 CA5279280 |
99 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746041872 CA5279279 |
99 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA200525831 rs1020100708 |
100 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA5279282 rs763093813 |
102 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs35953314 CA375196786 |
102 | G>C | No |
ClinGen gnomAD |
|
|
CA200525837 rs35953314 |
102 | G>S | No |
ClinGen gnomAD |
|
|
CA200525862 rs36086252 |
103 | S>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs36086252 CA5279283 VAR_051529 RCV000890784 |
103 | S>Y | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs762300776 CA5279285 |
104 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
CA375196802 rs1564205669 |
105 | S>C | No |
ClinGen Ensembl |
|
|
rs1390804360 CA375196805 |
106 | K>E | No |
ClinGen TOPMed |
|
|
CA375196810 rs1564205695 |
106 | K>N | No |
ClinGen Ensembl |
|
|
rs1187795922 CA375196809 |
106 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA375196807 rs1187795922 |
106 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
CA5279306 rs772434088 |
113 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1448595898 CA375197081 |
115 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1417355520 CA375197124 |
121 | A>G | No |
ClinGen TOPMed |
|
|
CA375197131 rs1456531743 |
122 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs775060476 CA200527479 |
124 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs775060476 CA5279311 |
124 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1436414322 CA375197145 |
125 | A>S | No |
ClinGen gnomAD |
|
|
rs763548623 CA5279313 |
126 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA200527515 rs373818401 |
127 | A>V | No |
ClinGen ESP gnomAD |
|
|
rs377043000 CA5279314 |
128 | D>N | No |
ClinGen ESP ExAC gnomAD |
|
|
rs757260257 CA5279315 |
130 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767352915 CA5279316 |
131 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA5279317 rs750291472 |
132 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs1503375 CA375197219 |
136 | D>E | No |
ClinGen 1000Genomes ESP TOPMed gnomAD |
|
|
CA375197213 rs780428144 |
136 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5279319 rs780428144 |
136 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749480510 CA5279322 |
137 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA375197224 rs1393289585 |
137 | D>E | No |
ClinGen gnomAD |
|
|
rs749480510 CA5279323 |
137 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA200527551 rs930915236 |
138 | D>V | No |
ClinGen Ensembl |
|
|
CA375197227 rs1438180571 |
138 | D>Y | No |
ClinGen gnomAD |
|
|
rs779181346 CA5279324 |
139 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs959886055 CA200527566 |
140 | K>N | No |
ClinGen Ensembl |
|
|
rs1564207536 CA375197247 |
141 | P>H | No |
ClinGen Ensembl |
|
|
rs1331135603 CA375197251 |
142 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
rs748142491 CA5279325 |
142 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375197340 rs1256609114 |
144 | L>F | No |
ClinGen gnomAD |
|
|
CA5279351 rs773817638 |
145 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375197381 rs1452535058 |
147 | M>T | No |
ClinGen gnomAD |
|
|
rs372842481 CA5279353 |
147 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA375197389 rs1588266648 |
148 | K>Q | No |
ClinGen Ensembl |
|
|
rs201244358 CA5279354 |
148 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA200528057 rs562182276 |
149 | N>S | No |
ClinGen gnomAD |
|
|
rs766385153 CA5279356 |
151 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs777557828 CA200528068 |
152 | N>T | No |
ClinGen Ensembl |
|
|
CA200528071 rs974750745 |
153 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1315201553 CA375197467 |
154 | C>S | No |
ClinGen gnomAD |
|
|
CA5279358 rs759388729 |
155 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA5279360 rs752826597 |
156 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs777767168 CA5279363 |
158 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1256514744 CA375197584 |
162 | A>T | No |
ClinGen gnomAD |
|
|
CA5279365 rs757829525 |
162 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA200528114 rs746799349 |
163 | L>Q | No |
ClinGen Ensembl |
|
|
CA375197610 rs1435779915 |
164 | S>F | No |
ClinGen Ensembl |
|
|
CA5279366 rs781656438 |
165 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1020280730 CA200529184 |
167 | P>R | No |
ClinGen TOPMed |
|
|
rs1402748986 CA375198287 |
168 | P>L | No |
ClinGen gnomAD |
|
|
CA5279387 rs372075702 |
170 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs894801677 CA375198312 |
172 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs780330637 CA5279388 |
174 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA5279389 rs749631665 |
175 | E>D | No |
ClinGen ExAC |
|
|
CA375198349 rs1306762567 |
178 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1306762567 CA375198351 |
178 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA375198357 rs1588269206 |
179 | L>Q | No |
ClinGen Ensembl |
|
|
rs1342986521 CA375198364 |
180 | V>A | No |
ClinGen TOPMed |
|
|
rs1342986521 CA375198365 |
180 | V>G | No |
ClinGen TOPMed |
|
|
CA5279392 rs370020171 |
181 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs560407223 CA5279393 |
181 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs560407223 CA200529223 |
181 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1244529136 CA375198371 |
182 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
CA375198381 rs1452652458 |
183 | D>E | No |
ClinGen gnomAD |
|
|
rs529062290 CA5279394 |
183 | D>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1426472677 CA375198383 |
184 | K>E | No |
ClinGen gnomAD |
|
|
CA375198400 rs1215524388 |
186 | P>A | No |
ClinGen gnomAD |
|
| TCGA novel | 187 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs866674037 CA200529225 |
188 | L>M | No |
ClinGen Ensembl |
|
|
CA375198411 rs1168991735 |
188 | L>Q | No |
ClinGen gnomAD |
|
|
CA375198428 rs1306885739 |
190 | K>N | No |
ClinGen TOPMed |
|
|
CA375198458 rs1466358097 |
194 | K>R | No |
ClinGen gnomAD |
|
|
CA375198462 rs1441230452 |
195 | L>V | No |
ClinGen TOPMed |
|
|
rs373465499 CA5279395 |
204 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA375198551 rs1350837195 |
206 | S>N | No |
ClinGen gnomAD |
|
|
CA375198564 rs1288764914 |
208 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs958967761 CA200530687 |
209 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
CA375198570 rs1488870090 |
209 | V>I | No |
ClinGen gnomAD |
|
|
CA375198576 rs1236041784 |
210 | P>A | No |
ClinGen gnomAD |
|
|
CA5279418 rs774577908 |
211 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1043531227 CA200530694 |
217 | I>M | No |
ClinGen Ensembl |
|
|
CA5279421 rs773346333 |
218 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs760792276 CA5279422 |
220 | V>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375198653 rs1340075219 |
220 | V>I | No |
ClinGen gnomAD |
|
|
rs766807925 CA5279423 |
221 | N>I | No |
ClinGen ExAC |
|
|
CA5279424 rs754300902 |
223 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375198711 rs1242740744 |
224 | F>C | No |
ClinGen TOPMed gnomAD |
|
|
CA375198743 rs1167688106 |
227 | Y>C | No |
ClinGen TOPMed |
|
|
rs759845889 CA5279425 |
228 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs1448366495 CA375198783 |
230 | Q>H | No |
ClinGen gnomAD |
|
|
rs760133021 CA5279444 |
231 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA375199446 rs1347655687 |
232 | T>I | No |
ClinGen gnomAD |
|
|
CA375199441 rs1588275703 |
232 | T>P | No |
ClinGen Ensembl |
|
|
CA375199462 rs1357948776 |
234 | E>D | No |
ClinGen TOPMed |
|
|
rs1224525565 CA375199473 |
236 | L>F | No |
ClinGen gnomAD |
|
|
rs765839692 COSM264596 COSM264597 CA5279445 COSM264598 |
237 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA5279446 rs753173560 |
237 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs1588275754 CA375199506 |
241 | D>A | No |
ClinGen Ensembl |
|
|
rs867919929 CA375199512 |
242 | Q>* | No |
ClinGen gnomAD |
|
|
CA200531916 rs867919929 |
242 | Q>K | No |
ClinGen gnomAD |
|
|
rs753209884 CA5279450 |
245 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA5279449 rs753209884 |
245 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375199534 rs1378370969 |
245 | E>V | No |
ClinGen TOPMed gnomAD |
|
|
CA5279451 rs779665738 |
247 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375199555 rs1588275805 |
248 | K>R | No |
ClinGen Ensembl |
|
|
CA5279454 rs764574736 |
250 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5279453 rs754974194 |
250 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA5279456 rs771784545 CA375199571 |
251 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5279458 COSM271593 rs200755344 COSM271594 COSM271592 |
254 | T>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs745925077 CA5279461 |
255 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs943924018 CA200531945 |
256 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs770440849 CA5279462 |
256 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1460448 COSM1460446 CA5279464 rs763444620 COSM1460447 |
258 | T>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs760415019 CA5279467 |
259 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA375199621 rs1490498513 |
260 | A>G | No |
ClinGen gnomAD |
|
|
CA5279468 rs573247485 |
260 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5279469 rs753444376 |
261 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753444376 CA375199625 |
261 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1192827805 CA375199624 |
261 | R>W | No |
ClinGen gnomAD |
|
|
rs754426932 CA5279470 |
263 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA5279471 rs765160431 |
264 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA5279472 rs535725776 |
265 | S>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs777669391 CA375199659 |
266 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1390765765 CA375199672 |
268 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1298095279 CA375199682 |
270 | E>K | No |
ClinGen gnomAD |
|
|
rs544711879 CA5279477 |
272 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs575515129 CA5279476 |
272 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs745953204 CA5279478 |
273 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs769955607 CA5279479 CA5279481 |
275 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs762071131 CA5279484 |
276 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5279482 rs368889264 |
276 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5279485 COSM1194862 COSM1194860 rs148425010 COSM1194861 |
277 | S>N | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1283778601 CA375199733 |
278 | P>L | No |
ClinGen gnomAD |
|
|
CA5279486 rs776077615 |
280 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1268636395 CA375199789 |
286 | C>Y | No |
ClinGen TOPMed |
|
|
CA5279487 rs759073791 |
288 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1280293320 CA375199808 |
289 | S>G | No |
ClinGen gnomAD |
|
|
rs975810825 CA200532050 |
289 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs758400237 CA5279490 |
291 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA375199831 rs751388123 |
292 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5279492 rs751388123 |
292 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200682190 CA5279491 |
292 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201664404 CA5279493 |
293 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs781509916 CA5279494 |
293 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1394549966 CA375199836 |
294 | E>K | No |
ClinGen gnomAD |
|
|
rs1461411466 CA375199846 |
295 | G>D | No |
ClinGen gnomAD |
|
|
rs746038688 CA5279495 |
295 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA375199855 rs780322247 |
296 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756385171 CA5279496 |
296 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5279498 rs201112284 |
297 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs769262030 CA5279499 |
298 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs779230045 CA5279500 |
299 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA5279502 rs200929938 |
300 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs558804357 CA5279503 |
300 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5279504 rs759233131 |
301 | G>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs376684663 CA5279506 |
302 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5279507 rs762393764 |
305 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375199907 rs1464846554 |
306 | Q>E | No |
ClinGen gnomAD |
|
|
CA375199910 rs1304897488 |
306 | Q>R | No |
ClinGen gnomAD |
|
|
rs1407122482 CA375199914 |
307 | A>T | No |
ClinGen gnomAD |
|
|
rs369632172 CA5279510 |
308 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA5279511 rs767265095 |
309 | T>A | No |
ClinGen ExAC |
|
|
rs750213597 CA5279512 |
309 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA200532129 rs1013685842 |
310 | E>Q | No |
ClinGen TOPMed |
|
|
rs754946204 CA5279516 |
315 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs551465675 CA5279518 |
317 | A>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs551465675 CA5279517 |
317 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs533638474 CA5279520 |
318 | G>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs921164752 CA200532139 |
319 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
COSM3716226 rs1239502791 COSM3716227 COSM3716225 CA375199986 |
319 | R>Q | upper_aerodigestive_tract Variant assessed as Somatic; 4.641e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1011486099 CA200532143 |
321 | I>V | No |
ClinGen Ensembl |
|
|
CA200532171 rs964558898 |
326 | R>Q | No |
ClinGen TOPMed |
|
|
rs1017471892 CA200532167 |
326 | R>W | No |
ClinGen Ensembl |
|
|
rs370286266 CA200532183 |
327 | M>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5279525 rs370286266 |
327 | M>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370286266 CA200532182 |
327 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs909220026 CA375200050 |
329 | D>A | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 329 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA200532186 rs909220026 |
329 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs768003414 CA5279526 |
329 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA5279528 rs373800274 |
330 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5279527 rs373800274 |
330 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201286389 CA5279529 |
330 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA375200063 rs1292958654 |
331 | K>N | No |
ClinGen gnomAD |
|
|
CA5279530 rs750299434 |
331 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1211954339 CA375200076 |
333 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
| TCGA novel | 334 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA200532206 rs983173777 |
334 | W>R | No |
ClinGen gnomAD |
|
|
CA5279532 rs766712977 |
336 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1317035691 CA375200103 |
337 | Q>R | No |
ClinGen gnomAD |
|
|
CA5279534 rs754072984 |
338 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5279533 rs754072984 |
338 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778904639 CA5279535 |
338 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752788461 CA375200111 |
339 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5279536 rs752788461 |
339 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA200532222 rs991052449 |
341 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs778198695 CA5279538 |
343 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs747381066 CA5279539 |
344 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5279540 rs747381066 |
344 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA200532226 rs916800373 |
344 | V>L | No |
ClinGen TOPMed |
|
|
CA200532238 rs536160998 |
345 | D>A | No |
ClinGen 1000Genomes |
|
|
CA5279543 rs768323864 COSM3779734 COSM3779735 COSM3779733 |
346 | E>K | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA200532250 rs1001126549 |
348 | A>G | No |
ClinGen TOPMed |
|
|
rs1410682987 CA375200168 |
348 | A>T | No |
ClinGen gnomAD |
|
|
CA200532264 rs866516820 |
349 | D>N | No |
ClinGen Ensembl |
|
|
CA375200185 rs1164196863 |
350 | V>G | No |
ClinGen gnomAD |
|
|
rs1426512797 CA375200205 |
353 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs185318432 CA200532272 |
355 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA5279547 rs41279152 |
356 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1564213970 CA375200227 |
357 | L>F | No |
ClinGen Ensembl |
|
|
CA5279548 rs760577235 |
357 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA200532306 rs766616309 |
358 | D>ET | No |
ClinGen Ensembl |
|
|
CA375200232 rs1564213978 |
358 | D>H | No |
ClinGen Ensembl |
|
|
rs1564213998 CA375200235 |
358 | D>V | No |
ClinGen Ensembl |
|
|
CA200532326 rs865868473 |
359 | D>E | No |
ClinGen gnomAD |
|
|
rs201379007 CA200532322 |
359 | D>H | No |
ClinGen Ensembl |
|
|
CA375200250 rs1564214037 |
360 | Q>H | No |
ClinGen Ensembl |
|
|
CA5279551 rs776541522 |
361 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1217125663 CA375200254 |
361 | P>S | No |
ClinGen TOPMed |
|
|
rs752734968 CA375200259 |
362 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201314690 CA5279553 |
362 | A>T | Variant assessed as Somatic; 4.657e-05 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA5279554 rs752734968 |
362 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1212384842 CA375200261 |
363 | E>K | No |
ClinGen TOPMed |
|
|
CA375200271 rs1297937365 |
364 | A>D | No |
ClinGen TOPMed |
|
|
rs764621404 CA5279556 |
364 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375200276 rs1475890652 |
365 | Q>* | No |
ClinGen gnomAD |
|
| TCGA novel | 365 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5279558 rs578165650 |
366 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5279557 rs752016267 |
366 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs746240662 CA5279560 |
367 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA200532348 rs746240662 |
367 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1457843922 CA375200294 |
368 | S>* | No |
ClinGen TOPMed |
|
|
rs1320070924 CA375200292 |
368 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
CA5279564 rs554026281 |
370 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5279563 rs747614844 |
370 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375200307 rs1588276889 |
371 | S>A | No |
ClinGen Ensembl |
|
|
rs773303932 CA5279565 |
374 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA5279566 rs201958872 |
375 | C>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1426933610 CA375200331 |
375 | C>R | No |
ClinGen TOPMed |
|
|
rs542286779 CA5279568 |
376 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5279569 rs372261483 |
376 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5279567 rs542286779 |
376 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs765385557 CA5279570 |
377 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA5279571 rs531993620 |
377 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA200532394 rs1015994703 |
378 | P>A | No |
ClinGen Ensembl |
|
|
CA5279573 rs763806216 |
378 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767913245 CA5279593 |
380 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1436324027 CA375200384 |
382 | N>S | No |
ClinGen gnomAD |
|
|
CA200532664 rs981200995 |
383 | D>V | No |
ClinGen TOPMed |
|
|
rs1588277790 CA375200403 |
385 | H>P | No |
ClinGen Ensembl |
|
|
CA200532665 rs1033754098 |
385 | H>Y | No |
ClinGen TOPMed |
|
|
CA200532668 rs915367406 |
386 | L>P | No |
ClinGen Ensembl |
|
|
rs540729891 CA5279595 |
387 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs369513001 CA5279596 |
387 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369513001 CA5279597 |
387 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA375200426 rs199515975 |
389 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs199515975 CA5279599 |
389 | S>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs751125529 CA5279600 COSM1460454 COSM1460452 COSM1460453 |
391 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
COSM1173453 CA5279601 rs199754310 COSM1173454 |
391 | R>H | oesophagus [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA375200440 rs1273759501 |
392 | P>S | No |
ClinGen gnomAD |
|
|
rs781017371 CA5279602 |
395 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1192591043 CA375200469 |
396 | V>G | No |
ClinGen gnomAD |
|
|
CA5279604 rs769591958 |
396 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA375200473 rs1421024439 |
397 | H>R | No |
ClinGen gnomAD |
|
|
CA375200480 rs1181359403 |
398 | H>Y | No |
ClinGen gnomAD |
|
|
rs1330120148 CA375200499 |
400 | E>D | No |
ClinGen TOPMed |
|
|
CA5279606 rs749069968 |
400 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs768881211 CA5279607 |
401 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA5279608 rs774492034 |
404 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375200536 rs1405948339 |
406 | S>C | No |
ClinGen gnomAD |
|
|
rs1229829973 CA375200544 |
407 | S>R | No |
ClinGen gnomAD |
|
|
rs376078669 CA5279611 |
408 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA375200555 rs1355722223 |
409 | P>S | No |
ClinGen gnomAD |
|
|
rs773142544 CA375200561 |
410 | P>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 410 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5279612 rs773142544 |
410 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA200532744 rs941127240 |
410 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA5279613 rs201524680 |
411 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs750749634 CA5279614 |
411 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5279615 rs750749634 |
411 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA200532774 rs201524680 |
411 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1429982542 CA375200565 |
412 | A>T | No |
ClinGen gnomAD |
|
|
rs759919130 CA5279616 |
413 | S>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs77017732 CA5279618 |
415 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 416 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA375200604 rs1164874754 |
417 | M>I | No |
ClinGen gnomAD |
|
|
CA375200608 rs1240320537 |
418 | A>E | No |
ClinGen TOPMed |
|
|
rs200132076 CA200532803 |
419 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA5279621 rs749897946 |
420 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5279620 rs200754963 |
420 | S>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA375200629 rs376045263 |
422 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM3395616 COSM3395615 COSM3395617 rs376045263 CA5279623 |
422 | V>M | pancreas [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs1360098206 CA375200653 |
425 | K>N | No |
ClinGen gnomAD |
|
|
CA5279648 rs754644711 |
429 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375200704 rs1296458028 |
431 | A>G | No |
ClinGen gnomAD |
|
|
rs747113829 CA5279649 |
431 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs778686694 CA5279650 |
433 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5279652 rs746421590 |
434 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5279651 rs367662771 |
434 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs770424475 CA375200732 |
436 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770424475 CA5279654 |
436 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1674890 CA375200730 COSM1674891 COSM1674892 rs1225041739 |
436 | R>W | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs1196740800 CA375200741 |
438 | E>K | No |
ClinGen TOPMed |
|
|
CA5279657 rs763171145 |
440 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5279658 rs771760998 |
440 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 441 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5279661 rs371883755 |
442 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5279662 rs753314586 |
442 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375200774 rs1238139036 |
443 | S>G | No |
ClinGen TOPMed |
|
|
CA5279664 rs765141879 |
443 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA5279666 rs36055332 VAR_051530 |
444 | V>I | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1393370802 CA375200786 |
445 | I>V | No |
ClinGen TOPMed |
|
|
CA375200821 rs1363550821 |
450 | D>N | No |
ClinGen gnomAD |
|
|
CA375200829 rs1184230594 |
451 | G>S | No |
ClinGen gnomAD |
|
|
rs1283636511 CA375200840 |
452 | S>F | No |
ClinGen gnomAD |
|
|
rs1302075917 CA375200848 |
454 | L>I | No |
ClinGen TOPMed |
|
|
rs781493140 CA375200868 |
457 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1105898 rs781493140 COSM1105897 CA5279670 |
457 | V>M | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs774752416 CA5279676 |
464 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5279675 rs768855900 |
464 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375200939 rs1351479183 |
466 | S>P | No |
ClinGen gnomAD |
|
|
rs1422660014 CA375200949 |
467 | T>I | No |
ClinGen gnomAD |
|
|
rs139682247 CA5279718 |
471 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5279720 rs774922246 |
474 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs748774883 CA5279721 |
476 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA5279722 rs768486025 |
479 | I>N | No |
ClinGen ExAC gnomAD |
|
|
CA200533240 rs375722680 |
481 | G>E | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1434234834 CA375201040 |
482 | K>* | No |
ClinGen TOPMed |
|
|
rs1588279645 CA375201057 |
484 | D>A | No |
ClinGen Ensembl |
|
|
rs372915705 CA200533245 |
485 | L>M | No |
ClinGen ESP TOPMed |
|
|
rs1479981835 CA375201069 |
486 | A>D | No |
ClinGen gnomAD |
|
|
CA5279724 rs761726160 |
489 | H>R | No |
ClinGen ExAC TOPMed |
|
|
rs962968834 CA200533248 |
489 | H>Y | No |
ClinGen TOPMed |
|
|
rs767472259 CA5279725 |
490 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs376148934 CA200533265 |
497 | P>L | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA200533261 rs866680155 |
497 | P>S | No |
ClinGen Ensembl |
|
|
CA375201149 rs1588279730 |
498 | A>V | No |
ClinGen Ensembl |
|
|
CA5279731 rs755018754 |
500 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755018754 CA5279730 |
500 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM86770 rs1291503400 CA375201158 |
500 | P>S | ovary Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA200533288 rs193265694 |
502 | A>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA375201168 rs193265694 |
502 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM1330695 rs193265694 CA5279732 COSM1330696 COSM1330694 |
502 | A>T | ovary [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1331441686 CA590944440 |
503 | C>SN* | No |
ClinGen gnomAD |
|
|
rs758879262 CA375201178 |
503 | C>W | No |
ClinGen ExAC gnomAD |
|
|
CA200533293 rs946364897 |
503 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA375201183 rs1194402072 |
504 | G>A | No |
ClinGen TOPMed |
|
|
CA590944441 rs1281729241 |
505 | D>S | No |
ClinGen gnomAD |
|
|
CA375201205 rs1269716672 |
507 | Y>C | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 508 | A>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5279735 rs572051903 |
509 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA375201224 rs1275284386 |
510 | Q>R | No |
ClinGen gnomAD |
|
| TCGA novel | 511 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755737130 CA5279736 |
511 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 514 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1374667964 CA375201264 |
516 | I>T | No |
ClinGen Ensembl |
|
|
rs779690614 CA5279737 |
516 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748784230 CA5279738 |
518 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs768166648 CA5279739 |
519 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs1217363015 CA375201282 |
519 | Y>D | No |
ClinGen TOPMed |
|
|
rs778547798 CA5279740 |
521 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1167922034 CA375201299 |
522 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs200401245 CA5279741 |
522 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1353338949 CA375201314 |
523 | F>L | No |
ClinGen TOPMed |
|
|
rs770710065 CA5279767 |
524 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770710065 CA5279768 |
524 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375201336 rs1208941076 |
526 | S>F | No |
ClinGen gnomAD |
|
|
CA375201346 rs1588280936 |
528 | T>P | No |
ClinGen Ensembl |
|
|
rs759840661 CA5279769 |
529 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs769993002 CA5279770 |
529 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs769993002 CA375201355 |
529 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs775561732 CA5279771 |
530 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5279772 rs762955112 |
533 | W>G | No |
ClinGen ExAC gnomAD |
|
|
rs370182930 CA5279774 |
537 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1452577320 CA375201414 |
538 | T>N | No |
ClinGen TOPMed |
|
|
CA375201452 rs1455596361 |
544 | A>T | No |
ClinGen gnomAD |
|
|
rs1367286900 CA375201458 |
545 | A>T | No |
ClinGen gnomAD |
|
|
rs1405540631 CA375201474 |
547 | F>I | No |
ClinGen gnomAD |
|
|
rs112007984 CA200536829 |
547 | F>Y | No |
ClinGen Ensembl |
|
|
rs767967978 CA5279777 |
548 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA200536833 rs751079542 |
551 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1304662720 CA375201509 |
552 | L>* | No |
ClinGen TOPMed gnomAD |
|
|
CA375201511 rs1187807726 |
552 | L>F | No |
ClinGen TOPMed |
|
|
rs1304662720 CA375201508 |
552 | L>S | No |
ClinGen TOPMed gnomAD |
|
|
rs201027017 CA5279779 |
553 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1297876684 CA375201520 |
554 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA5279812 rs773547758 CA375201558 |
557 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA5279811 rs772635052 |
557 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 558 | Y>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761139697 CA5279813 |
559 | S>N | No |
ClinGen ExAC |
|
|
rs761139697 CA375201571 |
559 | S>T | No |
ClinGen ExAC |
|
|
rs1564219467 CA375201587 |
561 | E>G | No |
ClinGen Ensembl |
|
|
CA5279815 rs199613570 |
562 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA375201592 rs199613570 |
562 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5279814 rs199613570 |
562 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368999378 CA200537579 |
562 | R>W | No |
ClinGen ESP TOPMed |
|
|
CA375201607 rs1462948657 |
564 | K>N | No |
ClinGen TOPMed |
|
|
rs1344989693 CA375201605 |
564 | K>R | No |
ClinGen gnomAD |
|
|
CA200537640 rs984819046 |
567 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA375201634 rs1388830354 |
567 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs779214654 CA5279844 |
569 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA375201654 rs1357958435 |
570 | V>A | No |
ClinGen gnomAD |
|
|
CA375201655 rs1357958435 |
570 | V>G | No |
ClinGen gnomAD |
|
|
CA375201650 rs1564219833 |
570 | V>M | No |
ClinGen Ensembl |
|
| TCGA novel | 576 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA375201695 rs758614870 |
576 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1290462534 CA375201701 |
577 | R>Q | No |
ClinGen gnomAD |
|
|
rs778065634 CA5279847 |
577 | R>W | Variant assessed as Somatic; 0.0001481 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1588286011 CA375201711 |
579 | P>S | No |
ClinGen Ensembl |
|
|
COSM4152097 rs771577336 COSM4152096 CA5279849 COSM4152095 |
580 | E>K | ovary [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA5279881 rs765206020 |
581 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA375201744 rs1437309941 |
582 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA375201759 rs1269627582 |
584 | I>S | No |
ClinGen gnomAD |
|
|
CA5279882 rs775161417 |
588 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5279883 rs762740870 |
588 | R>H | Variant assessed as Somatic; 4.638e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 590 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1564220799 CA375201796 |
590 | R>Q | No |
ClinGen Ensembl |
|
|
CA375201795 rs1275156148 |
590 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs374930544 CA5279884 |
591 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA375201808 rs1207773082 |
592 | E>* | No |
ClinGen gnomAD |
|
|
CA375201806 rs1207773082 |
592 | E>K | No |
ClinGen gnomAD |
|
|
CA5279886 rs200331387 |
593 | V>L | No |
ClinGen ExAC TOPMed |
|
|
CA200537862 rs1011108129 |
594 | M>I | No |
ClinGen TOPMed |
|
|
CA375201830 rs1201239626 |
595 | Y>S | No |
ClinGen gnomAD |
|
|
rs750505409 CA5279888 |
597 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1403792850 CA375201862 |
599 | I>M | No |
ClinGen TOPMed |
|
|
CA375201857 rs1280732650 |
599 | I>V | No |
ClinGen TOPMed |
|
|
rs35899714 CA375201886 |
602 | H>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1424438236 CA375201888 |
603 | V>I | No |
ClinGen gnomAD |
|
|
rs1424438236 CA375201889 |
603 | V>L | No |
ClinGen gnomAD |
|
|
CA5279893 rs749642318 |
604 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs749642318 CA5279892 |
604 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA5279895 rs746700944 |
605 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1363097005 CA375201901 |
605 | F>S | No |
ClinGen gnomAD |
|
|
CA375201911 rs372872905 |
607 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs372872905 CA375201910 |
607 | L>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5279897 rs372872905 |
607 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1242384865 CA375201917 |
608 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1266959907 CA375201923 |
609 | G>R | No |
ClinGen gnomAD |
|
|
rs118142639 COSM1196636 COSM1196635 CA5279900 |
611 | D>N | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
COSM1105919 CA5279901 rs762777991 COSM1105922 COSM1105920 |
612 | L>M | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
COSM1231989 COSM1231988 CA5279902 COSM1231990 rs764023184 |
613 | R>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA5279903 rs142714756 |
613 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA375201951 rs1423700917 |
614 | P>A | No |
ClinGen gnomAD |
|
|
CA5279904 rs762187981 |
615 | F>L | No |
ClinGen ExAC |
|
|
rs750477658 CA5279906 |
619 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1588287422 CA375201992 |
620 | C>G | No |
ClinGen Ensembl |
|
|
rs1473280239 CA375201993 |
620 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA5279908 rs760771732 |
621 | T>I | No |
ClinGen ExAC |
|
|
CA5279910 rs61760211 |
622 | S>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA375202011 rs1458895898 |
623 | Q>P | No |
ClinGen gnomAD |
|
|
CA5279911 rs754413394 |
625 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA5279913 rs779313507 |
626 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1261159174 CA375202033 |
627 | Y>N | No |
ClinGen TOPMed |
|
|
CA375202043 rs1588287512 |
628 | D>A | No |
ClinGen Ensembl |
|
|
rs565285609 CA5279916 |
628 | D>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs756913861 CA5279915 |
628 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5279917 rs745400327 |
629 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1261930806 CA375202088 |
635 | H>P | No |
ClinGen gnomAD |
|
|
rs749306581 CA375202099 |
636 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375202095 rs1483236701 |
636 | H>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 637 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs138111509 CA5279921 |
638 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA375202123 rs1181836731 |
640 | G>V | No |
ClinGen gnomAD |
|
|
CA375202143 rs1588287767 |
641 | S>R | No |
ClinGen Ensembl |
|
| TCGA novel | 643 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA375202162 rs1269840504 |
644 | Y>C | No |
ClinGen gnomAD |
|
|
rs771947050 CA5279942 |
645 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375202172 rs1166533087 |
646 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs374529076 CA200537932 |
647 | Y>* | No |
ClinGen ESP |
|
|
CA5279945 rs368776766 |
651 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs776703803 CA5279946 |
653 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs759543793 CA5279947 |
653 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs549597662 CA5279949 |
658 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs763419891 CA5279950 |
659 | F>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs569475213 CA5279951 |
662 | Q>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs538565706 CA5279952 |
662 | Q>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 663 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5279953 rs755806281 |
663 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs372259478 CA5279955 |
664 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs200710655 CA5279957 |
666 | E>K | Variant assessed as Somatic; 0.001071 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA5279960 rs777677850 |
670 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5279961 rs369056964 |
670 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1347786101 CA375202351 |
672 | V>M | No |
ClinGen gnomAD |
|
|
rs891208280 CA200537955 |
674 | N>T | No |
ClinGen Ensembl |
|
|
rs775543267 CA5279966 |
675 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1036982499 CA200537960 |
676 | E>D | No |
ClinGen TOPMed |
|
|
CA5279968 rs764453316 |
676 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs774785060 CA5279969 |
677 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs897767550 CA200537965 |
679 | V>I | No |
ClinGen TOPMed |
|
|
CA375202403 rs1341650928 |
680 | L>F | No |
ClinGen TOPMed |
|
|
CA375202412 rs1224030085 |
681 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1464503626 CA375202419 |
682 | Y>C | No |
ClinGen gnomAD |
|
| rs1450656100 | 683 | R>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA375202425 rs1564221653 |
683 | R>K | No |
ClinGen Ensembl |
|
|
rs1313822923 CA375202447 |
684 | K>R | No |
ClinGen gnomAD |
|
|
CA5279997 rs4465057 |
685 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA375202464 rs370720932 |
686 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA375202465 rs1290367725 |
687 | E>K | No |
ClinGen gnomAD |
|
|
rs374168943 CA5279999 |
689 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM4163417 CA5280000 rs35781520 COSM4163419 COSM4163418 |
690 | M>V | thyroid [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA5280002 rs370943586 |
691 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5280001 rs780211905 |
691 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs779023779 CA5280004 |
693 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs748665837 CA5280005 |
693 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772689746 CA5280006 |
694 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375202516 rs1183889734 |
695 | Q>* | No |
ClinGen gnomAD |
|
|
rs1284681374 CA375202523 |
696 | V>M | No |
ClinGen TOPMed |
|
|
rs374643880 CA5280008 |
697 | V>M | No |
ClinGen ESP ExAC gnomAD |
|
|
CA5280009 rs769598935 |
699 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs1174709618 CA375202553 |
701 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs537303607 CA200538089 |
701 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs537303607 CA375202550 |
701 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1174709618 CA375202554 |
701 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs751067440 CA5280013 |
702 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA5280012 rs763552121 |
702 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs534600371 COSM1231994 COSM1231993 CA5280015 |
703 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
COSM343155 rs761753407 COSM343156 CA5280014 |
703 | R>W | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA5280017 rs61751469 |
705 | P>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1369702701 CA375202582 |
706 | S>N | No |
ClinGen gnomAD |
|
|
CA5280020 rs755227586 |
709 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA5280019 rs376110318 |
709 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1588288790 CA375202601 |
710 | F>V | No |
ClinGen Ensembl |
|
|
CA5280021 rs778913001 |
711 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375202612 rs1274937437 |
711 | Y>C | No |
ClinGen gnomAD |
|
|
CA200538099 rs368117192 |
712 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368117192 CA5280022 |
712 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1247921841 CA375202619 |
713 | S>P | No |
ClinGen gnomAD |
|
|
CA5280023 rs758975304 |
714 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM3328738 COSM3328739 rs769143727 CA5280024 COSM3328737 |
714 | R>H | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA200538102 COSM1636061 rs769143727 COSM1636060 COSM1636062 |
714 | R>L | liver [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs768297447 CA5280029 |
715 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs748951786 CA5280028 |
715 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs866287769 CA200538111 |
717 | L>I | No |
ClinGen Ensembl |
|
|
CA5280034 rs184522208 |
724 | A>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5280033 rs184522208 |
724 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs766157763 CA5280035 |
724 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA200538127 rs375946343 |
728 | P>A | No |
ClinGen ESP |
|
|
CA5280039 rs752852931 |
729 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5280040 rs758501061 |
729 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777976621 CA5280041 |
730 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1407509137 CA375202732 |
731 | N>D | No |
ClinGen TOPMed |
|
|
CA5280042 rs747558303 |
733 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA375202752 rs1422100143 |
734 | F>I | No |
ClinGen TOPMed |
|
| TCGA novel | 736 | C>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs868720624 CA200538133 |
737 | S>P | No |
ClinGen Ensembl |
|
|
CA375202789 rs1247907629 |
739 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA5280047 rs768226102 CA5280046 |
739 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1373985309 CA375202793 |
740 | G>C | No |
ClinGen gnomAD |
|
|
CA200538160 rs370311709 |
741 | I>L | No |
ClinGen ESP |
|
|
CA5280060 rs751631215 |
741 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1409831349 CA375202819 |
742 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA5280063 rs750773129 |
744 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA375202849 rs1335904531 |
747 | H>N | No |
ClinGen gnomAD |
|
|
rs780362528 CA5280065 |
747 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA375202868 rs1330613324 |
749 | I>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA375202865 rs1564222710 |
749 | I>V | No |
ClinGen Ensembl |
|
|
CA375202872 rs201204036 |
750 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201204036 CA5280068 |
750 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5280071 rs776584347 |
751 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA5280070 rs770807936 |
751 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 751 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1192757842 CA375202891 |
753 | V>L | No |
ClinGen TOPMed |
|
|
rs1192757842 CA375202889 |
753 | V>M | No |
ClinGen TOPMed |
|
|
CA375202901 rs1181722910 |
755 | I>L | No |
ClinGen gnomAD |
|
|
rs376139944 CA5280073 |
758 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA200538176 rs775421996 |
759 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs574441817 CA5280075 |
760 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1174168094 CA375202950 |
762 | E>G | No |
ClinGen gnomAD |
|
|
CA375202947 rs1280262248 |
762 | E>K | No |
ClinGen TOPMed |
|
|
rs370836055 CA375202955 |
763 | H>N | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA200538180 rs370836055 |
763 | H>Y | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA200538316 rs1002106217 CA375203010 |
769 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen TOPMed gnomAD NCI-TCGA |
|
CA375203025 rs1588290212 |
771 | G>A | No |
ClinGen Ensembl |
|
|
CA375203034 rs368236937 |
773 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5280095 rs368236937 |
773 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA375203037 rs1186492281 |
773 | A>V | No |
ClinGen gnomAD |
|
|
CA375203038 rs750453523 |
774 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5280097 rs750453523 |
774 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1163640318 CA375203044 |
775 | N>D | No |
ClinGen gnomAD |
|
|
CA200538326 rs992853509 |
777 | L>P | No |
ClinGen Ensembl |
|
|
rs761254894 CA5280099 |
778 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761254894 CA5280098 |
778 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs554923154 CA5280101 |
779 | V>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA375203081 rs1319046508 |
780 | C>W | No |
ClinGen gnomAD |
|
| TCGA novel | 781 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1364535088 CA375203097 |
783 | C>G | No |
ClinGen gnomAD |
|
|
CA375203110 rs1160750281 |
784 | Q>H | No |
ClinGen TOPMed |
|
|
CA375203114 rs1312311455 |
785 | V>A | No |
ClinGen gnomAD |
|
|
CA5280102 rs765567287 |
785 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA375203129 rs1320097821 |
787 | I>S | No |
ClinGen TOPMed gnomAD |
|
|
CA5280104 rs756856174 |
788 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375203143 rs1464430533 |
789 | A>V | No |
ClinGen gnomAD |
|
|
rs780813570 CA5280105 |
790 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA375203150 rs745311962 |
791 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs866679117 CA200538335 |
791 | A>T | No |
ClinGen Ensembl |
|
|
CA5280106 COSM3413377 COSM3413378 COSM3413376 rs745311962 |
791 | A>V | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA5280107 rs773828016 |
793 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs372138760 CA5280108 |
793 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5280111 rs774009853 |
797 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs748458000 CA5280112 |
798 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369782121 CA5280114 |
799 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369782121 CA5280113 |
799 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA375203198 rs369782121 |
799 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1157578572 CA375203209 |
800 | T>I | No |
ClinGen gnomAD |
|
|
CA375203218 rs1284338123 |
802 | I>L | No |
ClinGen TOPMed |
|
|
CA5280118 rs200775761 |
803 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA375203270 rs1174611760 |
807 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1438949194 CA375203280 |
808 | F>L | No |
ClinGen TOPMed |
|
|
CA200538842 rs887479514 |
810 | A>S | No |
ClinGen TOPMed |
|
|
rs777596088 CA5280150 |
811 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA5280151 rs747301277 |
812 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771130434 CA5280152 |
813 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1373046072 CA375203317 |
814 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1373046072 CA375203316 |
814 | P>Q | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 814 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5280156 rs775910186 |
816 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763484112 CA5280157 |
820 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs768967973 CA5280158 |
821 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs766058952 CA375203382 |
823 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5280160 rs760415441 |
823 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA375203379 rs760415441 |
823 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs753426633 CA5280162 |
824 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA375203395 rs1181941784 |
825 | F>S | No |
ClinGen TOPMed |
|
|
rs758925067 CA5280163 |
826 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5280165 rs752620122 |
828 | W>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1564225568 CA375203422 |
829 | E>A | No |
ClinGen Ensembl |
|
|
CA375203429 rs1323939880 |
830 | A>S | No |
ClinGen gnomAD |
|
|
rs377374790 CA5280166 |
830 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1013380026 CA375203439 |
831 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA375203442 rs1324469629 |
832 | V>D | No |
ClinGen gnomAD |
|
|
CA5280167 rs373501565 |
832 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs757475294 CA5280169 |
833 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1230966001 CA375203456 |
834 | G>E | No |
ClinGen gnomAD |
|
|
CA375203453 rs1355160334 |
834 | G>R | No |
ClinGen gnomAD |
|
|
CA375203475 rs1274482280 |
837 | N>D | No |
ClinGen gnomAD |
|
|
rs781353145 CA5280170 |
837 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5280172 rs370397090 |
838 | E>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5280173 rs370397090 |
838 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs201577203 CA5280207 |
839 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs201577203 CA5280208 |
839 | P>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5280210 CA375203508 rs753881618 |
841 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs777435251 | 841 | G>R | Variant assessed as Somatic; 4.64e-05 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1346598540 CA375203516 |
842 | P>L | No |
ClinGen TOPMed |
|
|
rs371454594 CA5280211 |
842 | P>S | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 843 | I>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5280212 rs374928171 |
843 | I>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs369164110 CA5280213 |
844 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5280215 rs778298661 |
846 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375203551 rs1423803764 |
847 | R>S | No |
ClinGen gnomAD |
|
|
CA375203554 rs1463540251 |
848 | I>V | No |
ClinGen TOPMed |
|
|
CA375203585 rs1175252868 |
852 | K>R | No |
ClinGen gnomAD |
|
|
rs200637302 CA5280217 |
854 | S>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5280218 rs200021332 |
855 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5280219 rs748859972 |
855 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA5280220 rs768222418 |
856 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA5280221 rs773835182 |
859 | L>P | No |
ClinGen ExAC gnomAD |
|
|
COSM1460455 COSM1460457 CA375203712 COSM1460456 rs1350935959 |
869 | S>L | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1287464177 CA375203723 |
871 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
rs752148779 CA5280252 |
871 | E>K | No |
ClinGen ExAC |
|
|
rs1364427782 CA375203733 |
872 | T>I | No |
ClinGen gnomAD |
|
|
rs762371533 CA5280255 |
883 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs202062563 CA5280258 |
885 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1254899804 CA375203826 |
886 | I>M | No |
ClinGen gnomAD |
|
|
rs370427950 CA5280259 |
886 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1475921044 CA375203832 |
887 | A>V | No |
ClinGen gnomAD |
|
|
rs1415221075 CA375203834 |
888 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
CA375203835 rs1415221075 |
888 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA5280260 rs200854092 |
889 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM1173455 CA5280261 rs368318142 COSM1173456 |
889 | R>H | lung Variant assessed as Somatic; 0.0 impact. oesophagus [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs200124080 CA5280262 |
891 | S>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 892 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5280263 rs776493644 |
893 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5280264 rs745619569 |
893 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375203870 rs1284830265 |
894 | Q>* | No |
ClinGen gnomAD |
|
|
CA375203873 rs1564227288 |
894 | Q>R | No |
ClinGen Ensembl |
|
|
rs775906374 CA5280266 |
895 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1372592805 CA375203878 |
895 | P>S | No |
ClinGen gnomAD |
|
|
rs764291439 CA5280268 |
897 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs774236333 CA5280269 |
899 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762386824 CA5280270 |
900 | N>T | No |
ClinGen ExAC gnomAD |
|
|
CA375203927 rs1176004218 |
903 | G>E | No |
ClinGen gnomAD |
|
|
CA5280274 rs756515595 |
903 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs944658161 CA200539359 |
905 | Q>* | No |
ClinGen TOPMed |
|
|
CA5280276 rs752410628 |
905 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA5280278 rs61999273 |
907 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5280279 rs746441798 |
908 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375203968 rs1440039428 |
909 | A>D | No |
ClinGen gnomAD |
|
|
rs1354016133 CA375203967 |
909 | A>P | No |
ClinGen gnomAD |
|
|
rs1377513306 CA375203971 |
910 | E>K | No |
ClinGen gnomAD |
|
|
CA200539366 rs773333719 |
911 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA5280282 COSM1231992 rs745778885 COSM1231991 |
911 | T>M | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA5280281 rs773333719 |
911 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1271786421 CA375203983 |
912 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA5280283 COSM1105937 COSM1105938 rs769753156 |
912 | R>W | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1406014938 CA375203988 |
913 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1205954430 CA375203991 |
913 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs374645414 CA5280286 |
914 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5280285 COSM171809 rs374645414 |
914 | V>M | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
No associated diseases with Q9Y2K6
8 regional properties for Q9Y2K6
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Peptidase C19, ubiquitin carboxyl-terminal hydrolase | 145 - 258 | IPR001394-1 |
| domain | Peptidase C19, ubiquitin carboxyl-terminal hydrolase | 430 - 682 | IPR001394-2 |
| domain | Zinc finger, UBP-type | 6 - 111 | IPR001607 |
| domain | Peptidase C19, ubiquitin-specific peptidase, DUSP domain | 687 - 785 | IPR006615-1 |
| domain | Peptidase C19, ubiquitin-specific peptidase, DUSP domain | 789 - 895 | IPR006615-2 |
| conserved_site | Ubiquitin specific protease, conserved site | 146 - 161 | IPR018200-1 |
| conserved_site | Ubiquitin specific protease, conserved site | 627 - 644 | IPR018200-2 |
| domain | Ubiquitin specific protease domain | 145 - 685 | IPR028889 |
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 | |
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| centrosome | A structure comprised of a core structure (in most organisms, a pair of centrioles) and peripheral material from which a microtubule-based structure, such as a spindle apparatus, is organized. Centrosomes occur close to the nucleus during interphase in many eukaryotic cells, though in animal cells it changes continually during the cell-division cycle. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| perinuclear region of cytoplasm | Cytoplasm situated near, or occurring around, the nucleus. |
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. |
| G protein-coupled receptor binding | Binding to a G protein-coupled receptor. |
| zinc ion binding | Binding to a zinc ion (Zn). |
6 GO annotations of biological process
| Name | Definition |
|---|---|
| endocytosis | A vesicle-mediated transport process in which cells take up external materials or membrane constituents by the invagination of a small region of the plasma membrane to form a new membrane-bounded vesicle. |
| 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 K63-linked deubiquitination | A protein deubiquitination process in which a K63-linked ubiquitin chain, i.e. a polymer of ubiquitin formed by linkages between lysine residues at position 63 of the ubiquitin monomers, is removed from a protein. |
| regulation of G protein-coupled receptor signaling pathway | Any process that modulates the frequency, rate or extent of G protein-coupled receptor signaling pathway. |
| 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. |
8 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P51784 | USP11 | Ubiquitin carboxyl-terminal hydrolase 11 | Homo sapiens (Human) | PR |
| P40818 | USP8 | Ubiquitin carboxyl-terminal hydrolase 8 | Homo sapiens (Human) | PR |
| O75604 | USP2 | Ubiquitin carboxyl-terminal hydrolase 2 | Homo sapiens (Human) | PR |
| Q53GS9 | USP39 | U4/U6.U5 tri-snRNP-associated protein 2 | Homo sapiens (Human) | PR |
| Q8R5H1 | Usp15 | Ubiquitin carboxyl-terminal hydrolase 15 | Mus musculus (Mouse) | PR |
| Q8R5K2 | Usp33 | Ubiquitin carboxyl-terminal hydrolase 33 | Mus musculus (Mouse) | PR |
| Q9SX68 | RPL18 | 50S ribosomal protein L18, chloroplastic | Arabidopsis thaliana (Mouse-ear cress) | PR |
| F6Z5C0 | usp15 | Ubiquitin carboxyl-terminal hydrolase 15 | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MGDSRDLCPH | LDSIGEVTKE | DLLLKSKGTC | QSCGVTGPNL | WACLQVACPY | VGCGESFADH |
| 70 | 80 | 90 | 100 | 110 | 120 |
| STIHAQAKKH | NLTVNLTTFR | LWCYACEKEV | FLEQRLAAPL | LGSSSKFSEQ | DSPPPSHPLK |
| 130 | 140 | 150 | 160 | 170 | 180 |
| AVPIAVADEG | ESESEDDDLK | PRGLTGMKNL | GNSCYMNAAL | QALSNCPPLT | QFFLECGGLV |
| 190 | 200 | 210 | 220 | 230 | 240 |
| RTDKKPALCK | SYQKLVSEVW | HKKRPSYVVP | TSLSHGIKLV | NPMFRGYAQQ | DTQEFLRCLM |
| 250 | 260 | 270 | 280 | 290 | 300 |
| DQLHEELKEP | VVATVALTEA | RDSDSSDTDE | KREGDRSPSE | DEFLSCDSSS | DRGEGDGQGR |
| 310 | 320 | 330 | 340 | 350 | 360 |
| GGGSSQAETE | LLIPDEAGRA | ISEKERMKDR | KFSWGQQRTN | SEQVDEDADV | DTAMAALDDQ |
| 370 | 380 | 390 | 400 | 410 | 420 |
| PAEAQPPSPR | SSSPCRTPEP | DNDAHLRSSS | RPCSPVHHHE | GHAKLSSSPP | RASPVRMAPS |
| 430 | 440 | 450 | 460 | 470 | 480 |
| YVLKKAQVLS | AGSRRRKEQR | YRSVISDIFD | GSILSLVQCL | TCDRVSTTVE | TFQDLSLPIP |
| 490 | 500 | 510 | 520 | 530 | 540 |
| GKEDLAKLHS | AIYQNVPAKP | GACGDSYAAQ | GWLAFIVEYI | RRFVVSCTPS | WFWGPVVTLE |
| 550 | 560 | 570 | 580 | 590 | 600 |
| DCLAAFFAAD | ELKGDNMYSC | ERCKKLRNGV | KYCKVLRLPE | ILCIHLKRFR | HEVMYSFKIN |
| 610 | 620 | 630 | 640 | 650 | 660 |
| SHVSFPLEGL | DLRPFLAKEC | TSQITTYDLL | SVICHHGTAG | SGHYIAYCQN | VINGQWYEFD |
| 670 | 680 | 690 | 700 | 710 | 720 |
| DQYVTEVHET | VVQNAEGYVL | FYRKSSEEAM | RERQQVVSLA | AMREPSLLRF | YVSREWLNKF |
| 730 | 740 | 750 | 760 | 770 | 780 |
| NTFAEPGPIT | NQTFLCSHGG | IPPHKYHYID | DLVVILPQNV | WEHLYNRFGG | GPAVNHLYVC |
| 790 | 800 | 810 | 820 | 830 | 840 |
| SICQVEIEAL | AKRRRIEIDT | FIKLNKAFQA | EESPGVIYCI | SMQWFREWEA | FVKGKDNEPP |
| 850 | 860 | 870 | 880 | 890 | 900 |
| GPIDNSRIAQ | VKGSGHVQLK | QGADYGQISE | ETWTYLNSLY | GGGPEIAIRQ | SVAQPLGPEN |
| 910 | |||||
| LHGEQKIEAE | TRAV |