Q96HI0
PR
Gene name |
SENP5 (FKSG45) |
Protein name |
Sentrin-specific protease 5 |
Names |
Sentrin/SUMO-specific protease SENP5 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:205564 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for Q96HI0
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q96HI0-F1 | Predicted | AlphaFoldDB |
467 variants for Q96HI0
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA90907602 rs975196381 |
4 | Q>K | No |
ClinGen Ensembl |
|
|
rs552959119 CA2782873 |
8 | L>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA90907645 CA355637549 rs777192068 |
12 | G>R | No |
ClinGen Ensembl |
|
|
rs1200513793 CA355637563 |
13 | I>V | No |
ClinGen gnomAD |
|
|
rs764374169 CA2782876 |
14 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764374169 CA2782877 |
14 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1560142154 CA355637578 |
14 | H>Y | No |
ClinGen Ensembl |
|
|
CA355637602 rs1187969584 |
16 | A>T | No |
ClinGen gnomAD |
|
|
CA2782880 rs373158691 |
22 | N>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1423084281 CA355637720 |
23 | T>I | No |
ClinGen gnomAD |
|
|
rs949044206 CA90907675 |
25 | F>L | No |
ClinGen Ensembl |
|
|
CA355637741 rs1466208392 |
25 | F>Y | No |
ClinGen gnomAD |
|
|
CA90907678 rs1046116771 |
27 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA355637769 rs1046116771 |
27 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs758366046 CA2782882 |
30 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA2782883 rs780202410 |
30 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA2782884 rs751771901 |
31 | F>L | No |
ClinGen ExAC |
|
|
CA2782885 rs755320946 |
32 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
CA355637846 rs781125133 |
33 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781125133 CA2782886 |
33 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2782888 rs769743600 |
35 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA2782889 rs201147987 |
36 | H>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1251211486 CA355637891 |
39 | I>V | No |
ClinGen TOPMed |
|
|
CA90907745 rs926844088 |
42 | A>D | No |
ClinGen Ensembl |
|
|
rs770290773 CA2782892 |
42 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs938274122 CA90907746 |
43 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA355637924 rs1191859022 |
44 | L>P | No |
ClinGen gnomAD |
|
|
CA2782894 rs759181951 |
45 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA90907748 rs907804402 |
46 | R>S | No |
ClinGen TOPMed |
|
|
rs776953788 CA2782896 |
48 | V>D | No |
ClinGen ExAC gnomAD |
|
|
rs1465918986 CA355637952 |
49 | T>S | No |
ClinGen gnomAD |
|
|
CA2782897 rs762124474 |
55 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA2782898 rs369814358 |
58 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA355638025 rs1364487339 |
59 | G>D | No |
ClinGen gnomAD |
|
|
rs140304205 CA90907758 |
62 | K>E | No |
ClinGen 1000Genomes |
|
|
rs1226160948 CA355638054 |
63 | A>G | No |
ClinGen TOPMed |
|
|
rs763527255 CA2782900 |
65 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs759223283 CA90907773 |
65 | Q>K | No |
ClinGen TOPMed |
|
|
rs1401329903 CA355638078 |
67 | Q>R | No |
ClinGen gnomAD |
|
|
CA90907780 rs929495111 |
68 | K>E | No |
ClinGen Ensembl |
|
|
CA2782902 COSM1225208 rs751749357 |
69 | T>M | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1292287126 CA355638099 |
70 | W>S | No |
ClinGen TOPMed |
|
|
CA90907820 rs11556761 |
75 | P>H | No |
ClinGen TOPMed |
|
|
rs11556761 CA355638139 |
75 | P>L | No |
ClinGen TOPMed |
|
|
rs1285611065 CA355638137 |
75 | P>T | No |
ClinGen gnomAD |
|
|
CA2782907 rs199656533 |
76 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA355638158 rs1236505946 |
78 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA355638163 rs1265282771 |
79 | K>R | No |
ClinGen gnomAD |
|
|
rs749116189 CA2782908 |
80 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749116189 CA355638170 |
80 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1200275697 CA355638179 |
81 | K>N | No |
ClinGen gnomAD |
|
|
rs1379847001 CA355638187 |
82 | F>L | No |
ClinGen gnomAD |
|
|
CA2782909 VAR_057045 COSM3695999 rs35434690 RCV000969470 |
83 | N>S | large_intestine [Cosmic] | No |
ClinGen cosmic curated ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1158366632 CA355638195 |
84 | V>M | No |
ClinGen gnomAD |
|
| TCGA novel | 85 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA355638206 rs1360801840 |
85 | A>V | No |
ClinGen gnomAD |
|
|
CA2782910 rs778378693 |
92 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA355638277 rs1386816061 |
96 | V>M | No |
ClinGen gnomAD |
|
|
rs745428368 CA2782911 |
97 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA2782912 rs552471366 |
101 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA2782913 rs775082956 |
102 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA355638330 rs1354704462 |
103 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA355638370 rs1256155369 |
106 | S>F | No |
ClinGen TOPMed |
|
|
rs773628165 CA2782918 |
109 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1328835207 CA355638418 |
111 | L>P | No |
ClinGen TOPMed |
|
|
CA2782919 rs763357858 |
112 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2782920 rs767043264 |
114 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA355638451 rs1486715153 |
115 | Q>* | No |
ClinGen gnomAD |
|
|
rs201613688 CA90907960 |
115 | Q>R | No |
ClinGen Ensembl |
|
|
CA355638462 rs1178413599 |
116 | A>T | No |
ClinGen gnomAD |
|
|
CA355638471 rs1381383575 |
116 | A>V | No |
ClinGen gnomAD |
|
|
rs9870441 CA90907966 |
117 | E>K | No |
ClinGen Ensembl |
|
|
CA2782921 rs751659534 |
118 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2782923 rs150432878 |
119 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs767732113 CA2782924 |
121 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752913916 CA2782925 |
126 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1398036189 CA355638613 |
127 | D>G | No |
ClinGen gnomAD |
|
|
CA90907996 rs902804590 |
127 | D>H | No |
ClinGen TOPMed |
|
|
CA355638637 rs1377628238 |
128 | H>R | No |
ClinGen TOPMed |
|
|
rs1445885650 CA355638629 |
128 | H>Y | No |
ClinGen gnomAD |
|
|
rs1331937878 CA355638658 |
129 | E>G | No |
ClinGen gnomAD |
|
|
rs1331937878 CA355638661 |
129 | E>V | No |
ClinGen gnomAD |
|
|
rs1378918451 CA355638690 |
131 | C>R | No |
ClinGen gnomAD |
|
|
CA355638756 CA355638757 rs1467688740 |
133 | E>D | No |
ClinGen TOPMed |
|
|
CA2782927 rs763794417 |
140 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA355638856 rs1310907489 |
140 | V>I | No |
ClinGen gnomAD |
|
|
CA2782930 rs757117430 |
142 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA355638915 rs1198645763 |
143 | F>L | No |
ClinGen gnomAD |
|
|
rs966250542 CA90908024 |
144 | P>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs779551964 CA2782934 |
147 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA2782935 rs746574517 |
148 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA355639015 rs1464642876 |
149 | L>V | No |
ClinGen gnomAD |
|
|
CA355639039 rs1402337418 |
150 | G>D | No |
ClinGen gnomAD |
|
|
rs773429027 CA2782937 |
150 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs749703495 CA90908044 |
151 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2782938 rs749703495 |
151 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2782939 rs771454548 |
151 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs764001140 CA2782940 |
153 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355639083 rs114361326 |
153 | N>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1218068745 CA355639090 |
153 | N>K | No |
ClinGen gnomAD |
|
|
CA2782941 rs114361326 |
153 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1300437215 CA355639139 |
156 | R>T | No |
ClinGen TOPMed |
|
|
CA2782943 rs767642029 |
157 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767642029 CA2782942 |
157 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2782944 rs760791404 |
158 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA355639172 rs1577802073 |
159 | T>S | No |
ClinGen Ensembl |
|
|
CA2782946 rs753542062 |
161 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2782945 rs373256494 |
161 | P>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs757001638 CA2782947 |
162 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1477235826 CA355639245 |
164 | S>F | No |
ClinGen gnomAD |
|
|
rs765039459 CA2782948 |
167 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1412617876 CA355639297 |
168 | M>L | No |
ClinGen gnomAD |
|
|
COSM326443 rs374919279 CA2782950 |
171 | N>S | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA2782951 rs779533603 |
172 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs376533631 CA355639431 |
175 | Q>H | No |
ClinGen ESP ExAC gnomAD |
|
|
CA90908119 rs970527813 |
175 | Q>R | No |
ClinGen gnomAD |
|
|
rs548270594 CA90908130 |
176 | S>N | No |
ClinGen gnomAD |
|
|
rs548270594 CA355639449 |
176 | S>T | No |
ClinGen gnomAD |
|
|
CA2782953 rs754557062 |
178 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355639479 rs754557062 |
178 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2782954 rs780858586 |
182 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs1301179287 CA355639567 |
183 | I>L | No |
ClinGen gnomAD |
|
|
CA355639572 rs1313192445 |
183 | I>T | No |
ClinGen gnomAD |
|
|
CA355639578 rs1212653369 |
184 | V>M | No |
ClinGen gnomAD |
|
|
CA2782955 rs747778252 |
186 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA2782956 rs771368816 |
189 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA2782958 rs568236829 |
190 | H>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs568236829 CA90908141 |
190 | H>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2782959 COSM1043087 rs772767227 |
192 | R>K | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1189298893 CA355639692 |
193 | K>R | No |
ClinGen TOPMed |
|
|
CA2782960 rs775407442 |
194 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA355639728 rs1440349768 |
196 | C>F | No |
ClinGen TOPMed |
|
|
CA2782961 rs760845480 |
196 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA355639732 rs1440349768 |
196 | C>Y | No |
ClinGen TOPMed |
|
|
rs1254965440 CA904892324 |
197 | Y>* | No |
ClinGen TOPMed |
|
|
rs928511064 CA90908203 |
198 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs199558676 CA2782963 |
199 | C>S | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
CA2782964 rs762035318 |
199 | C>W | No |
ClinGen ExAC gnomAD |
|
|
rs1434354964 CA355639789 |
201 | Q>* | No |
ClinGen gnomAD |
|
|
CA2782965 rs370946094 |
203 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA90908247 rs973614292 |
205 | H>Y | No |
ClinGen Ensembl |
|
|
rs1247372826 CA355639857 |
206 | H>Q | No |
ClinGen TOPMed |
|
|
rs1307443116 CA355639896 |
209 | G>A | No |
ClinGen gnomAD |
|
| TCGA novel | 209 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762856713 CA2782967 |
210 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA2782968 rs766381377 |
211 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 213 | I>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754462350 CA2782970 |
221 | Q>H | No |
ClinGen ExAC |
|
|
rs751482982 CA2782969 |
221 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751482982 CA90908270 |
221 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2782971 rs780584386 |
222 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1489386658 CA355640066 |
223 | R>K | No |
ClinGen gnomAD |
|
|
CA2782973 rs375645899 |
225 | I>V | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 226 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 227 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 229 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA355640145 rs1471685172 |
229 | P>L | No |
ClinGen TOPMed |
|
|
CA355640135 rs1164787128 |
229 | P>S | No |
ClinGen TOPMed |
|
| TCGA novel | 231 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2782975 rs377677673 |
231 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs920865731 CA90908303 |
231 | M>V | No |
ClinGen Ensembl |
|
|
rs1322924254 CA355640169 |
232 | M>I | No |
ClinGen gnomAD |
|
|
rs1403693802 CA355640164 |
232 | M>V | No |
ClinGen gnomAD |
|
|
CA2782976 rs746280951 |
233 | Y>C | No |
ClinGen ExAC |
|
|
rs768722613 CA2782980 |
242 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2782979 rs747488417 |
242 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA355640291 rs1249027180 |
243 | Y>F | No |
ClinGen TOPMed |
|
|
rs61761866 CA90908340 |
246 | L>F | No |
ClinGen gnomAD |
|
|
CA355640397 rs1227248284 |
251 | F>L | No |
ClinGen gnomAD |
|
|
CA2782983 rs770057243 |
254 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1291138830 CA355640452 |
255 | S>R | No |
ClinGen TOPMed |
|
|
CA355640455 rs1212075964 |
256 | K>E | No |
ClinGen TOPMed |
|
|
rs140650446 CA2782984 |
256 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs902054011 CA90908362 |
260 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA2782985 rs572037853 |
264 | Q>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs996308782 CA90908377 |
265 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA2782986 COSM377640 rs766110657 |
265 | R>Q | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs751455923 CA2782987 |
266 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA90908411 rs757324975 |
267 | W>R | No |
ClinGen Ensembl |
|
|
CA90908412 rs890516145 |
267 | W>S | No |
ClinGen gnomAD |
|
|
rs759400370 CA2782988 |
268 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA355640639 rs1169226291 |
269 | Q>R | No |
ClinGen gnomAD |
|
|
CA2782989 rs767053851 |
270 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA90908421 rs1005906945 |
272 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA90908434 rs752315360 |
272 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2782990 rs752315360 |
272 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2782991 rs755809349 |
273 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371202510 CA2782992 |
275 | H>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA2782993 rs753573747 |
277 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs1356861906 CA355640755 |
278 | T>S | No |
ClinGen gnomAD |
|
|
CA2782994 rs758737203 |
279 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1409244159 CA355640766 |
279 | R>H | No |
ClinGen TOPMed |
|
|
CA90908476 rs1000153976 |
280 | R>K | No |
ClinGen Ensembl |
|
|
CA90908477 rs200137446 |
282 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs147412625 CA2782999 |
283 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1258449449 CA355640835 |
284 | E>D | No |
ClinGen gnomAD |
|
|
rs769895575 CA2783000 |
285 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA2783001 rs773374904 |
287 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1423546460 CA355640869 |
287 | S>N | No |
ClinGen gnomAD |
|
|
CA355640896 rs1466549551 |
289 | S>N | No |
ClinGen gnomAD |
|
|
rs1170138075 CA355640906 |
290 | P>T | No |
ClinGen gnomAD |
|
|
CA355640918 rs1209686694 |
291 | F>I | No |
ClinGen TOPMed |
|
| TCGA novel | 292 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA355640951 rs1020814727 |
293 | S>C | No |
ClinGen TOPMed |
|
|
CA90908496 rs1020814727 |
293 | S>F | No |
ClinGen TOPMed |
|
|
rs1414234046 CA355640964 |
294 | P>L | No |
ClinGen gnomAD |
|
|
CA355640974 rs1266469458 |
295 | E>G | No |
ClinGen TOPMed |
|
|
CA355641015 rs1577802688 |
298 | D>A | No |
ClinGen Ensembl |
|
|
CA355641035 rs1397622327 |
299 | P>L | No |
ClinGen gnomAD |
|
|
rs981899702 CA90908510 |
300 | S>A | No |
ClinGen Ensembl |
|
|
CA2783005 rs148425489 |
300 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 301 | C>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2783007 rs200610862 |
302 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2783008 rs775106645 |
302 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs200610862 CA2783006 |
302 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA90908531 rs973080867 |
303 | H>Q | No |
ClinGen Ensembl |
|
|
rs151102982 CA2783010 |
303 | H>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2783011 rs780403303 |
305 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA90908546 rs768995765 |
306 | Y>C | No |
ClinGen gnomAD |
|
|
CA2783013 rs766761678 |
306 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs751925164 CA2783014 |
307 | F>V | No |
ClinGen ExAC gnomAD |
|
|
rs946813608 CA90908547 |
308 | P>A | No |
ClinGen TOPMed |
|
|
rs755486912 CA2783015 |
310 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1394474130 CA355641096 |
310 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA2783016 rs781635883 |
312 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA2783017 rs748679193 |
313 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs923997442 CA90908576 |
313 | S>I | No |
ClinGen TOPMed |
|
|
CA355641131 rs1376898255 |
315 | V>L | No |
ClinGen gnomAD |
|
|
CA355641141 rs1170256428 |
316 | V>G | No |
ClinGen TOPMed |
|
|
CA2783018 rs756129309 |
319 | T>A | No |
ClinGen ExAC gnomAD |
|
|
COSM1043093 CA2783019 rs777835943 |
319 | T>M | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA2783020 rs367604976 |
321 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA355641175 rs1189686715 |
322 | H>N | No |
ClinGen TOPMed |
|
| TCGA novel | 322 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2783022 rs771120531 |
323 | V>E | No |
ClinGen ExAC gnomAD |
|
|
rs771120531 CA2783021 |
323 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs1321560417 CA355641181 |
323 | V>M | No |
ClinGen gnomAD |
|
|
rs139439455 CA2783023 |
324 | P>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1560143317 CA355641197 |
325 | D>E | No |
ClinGen Ensembl |
|
|
rs771930246 CA2783024 |
326 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2783025 rs143180579 |
326 | C>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs760698008 CA2783026 |
327 | H>P | No |
ClinGen ExAC gnomAD |
|
|
rs1054485211 CA90908630 |
328 | T>A | No |
ClinGen TOPMed |
|
|
CA355641215 rs1486265819 |
328 | T>I | No |
ClinGen gnomAD |
|
|
rs140986658 CA2783029 |
329 | K>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs143782015 CA90908654 |
329 | K>R | No |
ClinGen ESP |
|
|
rs764845424 CA2783030 |
331 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1560143368 CA355641237 |
332 | S>P | No |
ClinGen Ensembl |
|
|
CA355641253 rs1234972418 |
333 | F>L | No |
ClinGen gnomAD |
|
|
rs750123782 CA2783031 |
335 | G>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 335 | G>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755250985 CA2783032 |
335 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2783033 rs767881509 |
336 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1160881673 CA355641295 |
337 | E>G | No |
ClinGen gnomAD |
|
|
CA90908687 rs773860984 |
337 | E>Q | No |
ClinGen Ensembl |
|
|
VAR_061732 rs34251880 CA2783035 |
340 | L>F | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1362742303 CA355641332 |
340 | L>V | No |
ClinGen TOPMed |
|
|
CA355641348 rs1577803027 |
341 | D>G | No |
ClinGen Ensembl |
|
|
CA355641369 rs1331628069 |
342 | E>D | No |
ClinGen TOPMed |
|
|
CA90908695 rs959127233 |
342 | E>K | No |
ClinGen gnomAD |
|
|
rs777192449 CA90908709 |
343 | A>V | No |
ClinGen Ensembl |
|
|
CA355641381 rs1433555577 |
344 | F>L | No |
ClinGen TOPMed |
|
|
rs143683668 CA2783037 |
345 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2783039 rs757472813 |
345 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA2783038 rs143683668 |
345 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1249235718 CA355641423 |
347 | Q>R | No |
ClinGen gnomAD |
|
|
rs1241274912 CA355641440 |
348 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs34326043 CA2783040 RCV000958081 |
350 | G>D | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs142337267 CA2783041 |
351 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA355641487 rs1483707435 |
352 | A>V | No |
ClinGen TOPMed |
|
|
rs983759223 CA90908756 |
353 | T>I | No |
ClinGen gnomAD |
|
|
CA90908757 rs966147867 |
354 | N>D | No |
ClinGen Ensembl |
|
|
rs1456753864 CA355641508 |
354 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
CA90908759 rs531637804 |
355 | A>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs531637804 CA2783043 |
355 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1452621015 CA355641542 |
357 | D>G | No |
ClinGen Ensembl |
|
|
CA2783044 rs746937167 |
360 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA2783046 rs776256646 |
361 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA355641592 rs1560143529 |
361 | C>Y | No |
ClinGen Ensembl |
|
|
CA355641608 rs1355155806 |
362 | S>C | No |
ClinGen gnomAD |
|
|
CA355641621 rs1305654631 |
363 | S>F | No |
ClinGen TOPMed |
|
| TCGA novel | 364 | P>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2783048 rs761268083 |
364 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA355641647 rs1294613736 |
366 | W>R | No |
ClinGen TOPMed |
|
|
rs1228607077 CA355641676 |
368 | C>R | No |
ClinGen TOPMed |
|
|
rs762671292 CA2783051 |
369 | T>A | No |
ClinGen ExAC |
|
|
rs1298463770 CA355641718 |
371 | L>P | No |
ClinGen gnomAD |
|
|
rs371437961 CA2783054 |
371 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA355641746 rs1393414693 |
374 | D>G | No |
ClinGen gnomAD |
|
|
rs1560143602 CA355641758 |
375 | I>T | No |
ClinGen Ensembl |
|
|
CA90908876 rs555470579 |
376 | P>L | No |
ClinGen Ensembl |
|
|
CA355641766 rs1310838620 |
376 | P>S | No |
ClinGen gnomAD |
|
|
CA2783056 rs754403190 |
378 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs35207324 CA2783058 |
380 | H>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2783057 rs757232055 |
380 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs750540823 CA2783059 |
381 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758757181 CA2783060 |
381 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1252317555 CA355641814 |
382 | S>P | No |
ClinGen gnomAD |
|
|
rs779982031 CA2783062 |
384 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs779982031 CA355641830 |
384 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs746849214 CA2783063 |
385 | M>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1189402159 CA355641845 |
386 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs768682349 CA2783064 |
386 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA90908937 rs968558356 |
387 | I>V | No |
ClinGen TOPMed |
|
|
rs1477419086 CA355641854 |
388 | S>A | No |
ClinGen gnomAD |
|
|
CA2783066 rs748131354 |
388 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA2783068 rs772845818 |
390 | T>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 393 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1474944732 CA355641905 |
395 | M>T | No |
ClinGen TOPMed |
|
|
rs1207323998 CA355641926 |
398 | G>D | No |
ClinGen TOPMed |
|
|
CA2783071 rs770623274 |
399 | Q>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 400 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2783072 rs368060825 |
401 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs764462071 CA2783074 |
403 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs760990850 CA2783073 |
403 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2783075 rs754238171 |
404 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA355641981 rs1232330216 |
407 | S>G | No |
ClinGen TOPMed |
|
|
COSM3774851 rs1255087373 CA355641988 |
408 | D>N | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs762382749 CA2783076 |
409 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2783077 rs765223971 |
411 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA2783078 rs765223971 |
411 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA2783079 rs758671474 |
414 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA904893226 rs1323262336 |
416 | S>M | No |
ClinGen TOPMed |
|
|
rs568298553 CA2783081 |
418 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2783082 rs372253723 |
419 | D>G | No |
ClinGen ESP ExAC gnomAD |
|
|
CA90909020 rs372253723 |
419 | D>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1175039332 CA355642066 |
420 | T>I | No |
ClinGen gnomAD |
|
|
CA2783084 rs552711259 |
422 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2783083 rs142929546 |
422 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA355642095 rs1420924302 |
425 | V>E | No |
ClinGen gnomAD |
|
|
CA2783086 rs777129693 |
425 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770463777 CA355642100 |
426 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2783088 rs770463777 |
426 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748838932 CA2783087 |
426 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA2783089 rs761764177 |
428 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761764177 CA2783090 |
428 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355642115 rs1412903774 |
429 | V>L | No |
ClinGen TOPMed |
|
|
CA90909061 rs1027729782 |
432 | K>N | No |
ClinGen Ensembl |
|
|
CA2783091 rs138019645 |
433 | A>T | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 433 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2783093 rs777118442 |
435 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765820076 CA2783094 |
436 | N>D | No |
ClinGen ExAC |
|
|
CA2783095 rs773392094 |
436 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA355642183 rs1377441907 |
439 | S>A | No |
ClinGen gnomAD |
|
|
rs1050647218 CA90909090 |
440 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
CA2783097 rs766588296 |
441 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs1215819241 CA355642202 |
442 | M>V | No |
ClinGen gnomAD |
|
|
rs202085742 CA2783101 |
447 | S>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA355642241 rs1455397686 |
447 | S>P | No |
ClinGen gnomAD |
|
|
rs202085742 CA2783100 |
447 | S>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1378649572 CA355642264 |
450 | Q>H | No |
ClinGen gnomAD |
|
| TCGA novel | 451 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs888004384 CA90909131 |
452 | I>V | No |
ClinGen TOPMed |
|
|
rs149511045 CA2783102 |
453 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1334642099 CA355642297 |
455 | S>C | No |
ClinGen TOPMed |
|
|
rs375137455 CA2783106 |
461 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1443533394 CA355642371 |
465 | S>R | No |
ClinGen gnomAD |
|
|
rs758456116 CA90909172 |
466 | P>S | No |
ClinGen TOPMed |
|
|
rs745513643 CA2783109 |
469 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA355642414 rs1223856318 |
473 | C>S | No |
ClinGen gnomAD |
|
|
rs922139278 CA90909178 |
474 | S>G | No |
ClinGen Ensembl |
|
|
rs1285676279 CA355642426 |
474 | S>I | No |
ClinGen gnomAD |
|
|
rs1440544111 CA355642434 |
475 | G>V | No |
ClinGen TOPMed |
|
|
rs369618833 CA2783110 |
477 | K>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
CA2783112 rs748584726 |
479 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA2783115 rs143923578 |
484 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2783116 rs766562131 |
485 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774632620 CA2783117 |
488 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1177979969 CA355642516 |
488 | S>N | No |
ClinGen gnomAD |
|
|
rs1451770815 CA355642538 |
491 | A>P | No |
ClinGen TOPMed |
|
|
rs957450527 CA90909206 |
493 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1294792754 CA355642598 |
500 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
CA2783123 rs753704675 |
501 | V>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2783124 rs757248691 |
502 | C>F | No |
ClinGen ExAC gnomAD |
|
|
CA2783125 rs557472142 |
504 | S>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs143164144 CA2783148 |
510 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs754644928 CA2783149 |
512 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 514 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA90917171 rs202097550 |
516 | S>R | No |
ClinGen Ensembl |
|
|
rs75672054 CA90917178 |
517 | L>F | No |
ClinGen gnomAD |
|
| TCGA novel | 517 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2783151 rs749712518 |
518 | V>I | No |
ClinGen ExAC TOPMed |
|
|
CA355644274 rs749712518 |
518 | V>L | No |
ClinGen ExAC TOPMed |
|
|
CA355644294 rs1256285389 |
521 | S>N | No |
ClinGen TOPMed |
|
|
rs879009318 CA90917193 |
523 | K>N | No |
ClinGen Ensembl |
|
|
CA2783154 rs746380233 |
526 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA90917198 rs200302180 |
528 | R>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs200302180 CA2783155 |
528 | R>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1201624563 CA355644363 |
531 | D>A | No |
ClinGen TOPMed |
|
|
CA2783156 rs775496978 |
531 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760935003 CA2783157 |
532 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 533 | F>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs768912217 CA2783158 |
534 | N>T | No |
ClinGen ExAC gnomAD |
|
|
CA355644387 rs1272802992 |
535 | E>K | No |
ClinGen gnomAD |
|
|
CA2783160 rs761555026 |
539 | N>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 540 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1374363182 CA355644453 |
542 | P>A | No |
ClinGen gnomAD |
|
|
rs1409149798 CA355644463 |
543 | F>Y | No |
ClinGen TOPMed |
|
|
rs1287176363 CA355644474 |
545 | N>D | No |
ClinGen Ensembl |
|
|
CA2783185 rs772938367 |
545 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355644485 rs994200405 |
546 | R>S | No |
ClinGen TOPMed |
|
|
CA2783186 rs202236468 |
549 | T>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2783188 rs146191752 |
552 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2783187 rs766269938 |
552 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2783189 rs759070979 |
553 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs913981177 CA90917388 |
554 | R>T | No |
ClinGen TOPMed |
|
|
CA355644538 rs1373343994 |
555 | H>D | No |
ClinGen Ensembl |
|
|
rs1473230823 CA355644541 |
555 | H>R | No |
ClinGen TOPMed |
|
|
rs752333800 CA2783191 |
556 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2783192 rs755901733 |
557 | K>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1194913165 CA355644556 |
557 | K>R | No |
ClinGen gnomAD |
|
|
rs1420385873 CA355644563 |
558 | C>Y | No |
ClinGen gnomAD |
|
|
rs750021901 CA90917394 |
561 | R>C | No |
ClinGen Ensembl |
|
|
rs1185067035 CA355644589 |
562 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA355644600 rs1417093028 |
563 | F>C | No |
ClinGen gnomAD |
|
|
CA355644607 rs1475526413 |
564 | Y>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs765617517 CA2783193 |
566 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1268426449 CA355644641 |
568 | M>I | No |
ClinGen TOPMed |
|
|
rs1286741741 CA355644635 |
568 | M>V | No |
ClinGen Ensembl |
|
|
CA2783194 rs750799398 |
571 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA2783196 COSM479958 rs780382104 |
572 | D>G | kidney [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs758903706 CA2783195 |
572 | D>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 573 | D>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1342444532 CA355644684 |
575 | A>T | No |
ClinGen gnomAD |
|
|
COSM209418 rs1017469080 CA90917412 |
575 | A>V | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs1285420226 CA355644805 |
590 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1417245406 CA355644814 |
591 | Y>C | No |
ClinGen gnomAD |
|
|
rs1170802812 CA355644838 |
595 | I>L | No |
ClinGen gnomAD |
|
|
rs1560151922 CA355644941 |
607 | N>S | No |
ClinGen Ensembl |
|
| TCGA novel | 611 | H>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA90913063 rs1038013578 |
631 | L>V | No |
ClinGen TOPMed |
|
| TCGA novel | 640 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA90913067 rs867131138 |
640 | P>S | No |
ClinGen Ensembl |
|
|
rs1290172108 CA355645192 |
641 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA2783244 rs780088866 |
655 | S>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA90913118 rs752577395 |
655 | S>P | No |
ClinGen Ensembl |
|
|
CA355645290 rs1469623455 |
656 | N>D | No |
ClinGen gnomAD |
|
| TCGA novel | 657 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1043105 CA355645299 rs1560161130 |
657 | R>Q | large_intestine Variant assessed as Somatic; impact. endometrium [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs746978578 CA2783245 |
658 | I>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1043107 rs1560161140 CA355645309 |
659 | I>V | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs767983022 CA2783246 |
661 | F>C | No |
ClinGen ExAC gnomAD |
|
|
rs1177791443 CA355645366 |
667 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 668 | H>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA355645372 rs1414861007 |
668 | H>Y | No |
ClinGen gnomAD |
|
|
CA355645394 rs1415468722 |
670 | K>N | No |
ClinGen TOPMed |
|
|
CA355645411 rs1419383167 |
673 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs764070923 CA2783258 |
676 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355645465 rs1271148864 |
678 | K>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 688 | N>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 689 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs373914714 CA2783261 |
691 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA355645578 rs1472138921 |
694 | Q>P | No |
ClinGen gnomAD |
|
|
rs1156692701 CA355645628 |
701 | T>M | No |
ClinGen gnomAD |
|
|
CA2783283 rs751419016 |
717 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs753001065 CA90918042 |
720 | Y>H | No |
ClinGen Ensembl |
|
|
rs1330351907 CA355646041 |
721 | C>F | No |
ClinGen gnomAD |
|
|
rs758522042 CA90918047 |
722 | K>Q | No |
ClinGen Ensembl |
|
|
rs1354759350 CA355646065 |
725 | A>T | No |
ClinGen TOPMed |
|
|
rs1271742531 CA355646080 |
727 | E>Q | No |
ClinGen gnomAD |
|
|
rs1311071867 CA355646090 |
728 | Q>R | No |
ClinGen TOPMed |
|
|
CA355646167 rs1560164139 |
738 | P>R | No |
ClinGen Ensembl |
|
|
CA2783309 rs143871189 |
739 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1180379954 CA355646180 |
741 | R>W | No |
ClinGen gnomAD |
|
|
CA2783312 rs756795294 |
742 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1458177760 CA355646252 |
751 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
CA355646260 rs1393061060 |
752 | R>Q | No |
ClinGen gnomAD |
No associated diseases with Q96HI0
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| nucleolus | A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| deSUMOylase activity | An thiol-dependent isopeptidase activity that cleaves SUMO from a target protein to which it is conjugated. |
| SUMO-specific endopeptidase activity | Catalysis of the hydrolysis of peptide bonds between an alpha-carboxyl group and an alpha-amino group within the small conjugating protein SUMO. |
3 GO annotations of biological process
| Name | Definition |
|---|---|
| cell cycle | The progression of biochemical and morphological phases and events that occur in a cell during successive cell replication or nuclear replication events. Canonically, the cell cycle comprises the replication and segregation of genetic material followed by the division of the cell, but in endocycles or syncytial cells nuclear replication or nuclear division may not be followed by cell division. |
| cell division | The process resulting in division and partitioning of components of a cell to form more cells; may or may not be accompanied by the physical separation of a cell into distinct, individually membrane-bounded daughter cells. |
| protein desumoylation | The process in which a SUMO protein (small ubiquitin-related modifier) is cleaved from its target protein. |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MKKQRKILWR | KGIHLAFSEK | WNTGFGGFKK | FYFHQHLCIL | KAKLGRPVTW | NRQLRHFQGR |
| 70 | 80 | 90 | 100 | 110 | 120 |
| KKALQIQKTW | IKDEPLCAKT | KFNVATQNVS | TLSSKVKRKD | AKHFISSSKT | LLRLQAEKLL |
| 130 | 140 | 150 | 160 | 170 | 180 |
| SSAKNSDHEY | CREKNLLKAV | TDFPSNSALG | QANGHRPRTD | PQPSDFPMKF | NGESQSPGES |
| 190 | 200 | 210 | 220 | 230 | 240 |
| GTIVVTLNNH | KRKGFCYGCC | QGPEHHRNGG | PLIPKKFQLN | QHRRIKLSPL | MMYEKLSMIR |
| 250 | 260 | 270 | 280 | 290 | 300 |
| FRYRILRSQH | FRTKSKVCKL | RKAQRSWVQK | VTGDHQETRR | ENGEGGSCSP | FPSPEPKDPS |
| 310 | 320 | 330 | 340 | 350 | 360 |
| CRHQPYFPDM | DSSAVVKGTN | SHVPDCHTKG | SSFLGKELSL | DEAFPDQQNG | SATNAWDQSS |
| 370 | 380 | 390 | 400 | 410 | 420 |
| CSSPKWECTE | LIHDIPLPEH | RSNTMFISET | EREIMTLGQE | NQTSSVSDDR | VKLSVSGADT |
| 430 | 440 | 450 | 460 | 470 | 480 |
| SVSSVDGPVS | QKAVQNENSY | QMEEDGSLKQ | SILSSELLDH | PYCKSPLEAP | LVCSGLKLEN |
| 490 | 500 | 510 | 520 | 530 | 540 |
| QVGGGKNSQK | ASPVDDEQLS | VCLSGFLDEV | MKKYGSLVPL | SEKEVLGRLK | DVFNEDFSNR |
| 550 | 560 | 570 | 580 | 590 | 600 |
| KPFINREITN | YRARHQKCNF | RIFYNKHMLD | MDDLATLDGQ | NWLNDQVINM | YGELIMDAVP |
| 610 | 620 | 630 | 640 | 650 | 660 |
| DKVHFFNSFF | HRQLVTKGYN | GVKRWTKKVD | LFKKSLLLIP | IHLEVHWSLI | TVTLSNRIIS |
| 670 | 680 | 690 | 700 | 710 | 720 |
| FYDSQGIHFK | FCVENIRKYL | LTEAREKNRP | EFLQGWQTAV | TKCIPQQKND | SDCGVFVLQY |
| 730 | 740 | 750 | |||
| CKCLALEQPF | QFSQEDMPRV | RKRIYKELCE | CRLMD |