O94941
PR
Gene name |
UBOX5 |
Protein name |
RING finger protein 37 |
Names |
RING-type E3 ubiquitin transferase RNF37, U-box domain-containing protein 5, UbcM4-interacting protein 5, hUIP5, Ubiquitin-conjugating enzyme 7-interacting protein 5 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:22888 |
EC number |
2.3.2.27: Aminoacyltransferases |
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 O94941
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-O94941-F1 | Predicted | AlphaFoldDB |
428 variants for O94941
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA408072743 rs1332451395 |
2 | V>G | No |
ClinGen gnomAD |
|
|
CA408072747 rs148848697 |
2 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs148848697 CA408072746 CA9739855 |
2 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 3 | I>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9739854 rs758864718 |
3 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA408072730 rs1167011509 |
4 | N>K | No |
ClinGen gnomAD |
|
|
CA9739853 rs753221747 |
4 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1218549420 CA408072704 |
8 | P>L | No |
ClinGen TOPMed |
|
|
CA408072700 rs1600374385 |
9 | Q>P | No |
ClinGen Ensembl |
|
| TCGA novel | 12 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1157136860 CA408072649 |
16 | C>Y | No |
ClinGen gnomAD |
|
|
CA9739850 rs776995534 |
17 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA9739849 rs187028562 |
18 | K>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM3740081 rs745607672 CA9739840 |
20 | S>A | liver [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1437783363 CA408071895 |
23 | G>S | No |
ClinGen gnomAD |
|
|
CA9739838 COSM1025744 rs374361254 |
25 | E>K | endometrium Variant assessed as Somatic; 4.787e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA310940798 rs751887917 |
26 | V>A | No |
ClinGen Ensembl |
|
|
CA9739837 rs146142981 |
33 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9739836 rs777193248 |
36 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA408071690 rs1159030848 |
38 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs367998161 CA9739835 |
39 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1488762521 CA408071657 |
40 | G>D | No |
ClinGen gnomAD |
|
|
rs148841379 CA9739833 |
44 | E>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 45 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9739832 rs755314056 |
48 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs906436850 CA310940759 |
52 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs906436850 CA408071377 |
52 | Y>S | No |
ClinGen TOPMed gnomAD |
|
|
CA408071361 rs1287052191 |
53 | V>M | No |
ClinGen TOPMed |
|
|
CA408071325 rs1303824879 |
54 | T>I | No |
ClinGen gnomAD |
|
|
CA408071244 rs1340439192 |
58 | P>S | No |
ClinGen gnomAD |
|
|
rs773555195 CA9739828 |
60 | N>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 62 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1302537067 CA408071178 |
64 | C>Y | No |
ClinGen gnomAD |
|
|
CA408071141 rs1357280396 |
69 | D>V | No |
ClinGen gnomAD |
|
|
CA9739825 rs775300993 |
70 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA408071118 rs1292719198 |
73 | G>E | No |
ClinGen TOPMed |
|
|
rs1190910269 CA408071109 |
75 | G>S | No |
ClinGen gnomAD |
|
|
CA9739823 rs745691481 |
76 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs942844246 CA310940735 |
77 | N>S | No |
ClinGen TOPMed |
|
|
rs770694906 CA9739821 |
78 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9739819 rs777481259 |
79 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA9739820 rs746725472 |
79 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA9739818 rs757853085 |
83 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 84 | Y>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 84 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA408071050 rs1249377964 |
84 | Y>S | No |
ClinGen TOPMed |
|
|
CA408071040 rs1442182998 |
85 | T>I | No |
ClinGen TOPMed |
|
|
rs747638402 CA9739817 |
86 | S>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 86 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs779311904 CA9739816 |
87 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1385399786 CA408071020 |
89 | S>Y | No |
ClinGen TOPMed |
|
|
rs755502043 CA9739815 |
90 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408071014 rs755502043 |
90 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1394563975 CA408070998 |
92 | V>G | No |
ClinGen gnomAD |
|
|
rs1344364206 CA408071002 |
92 | V>L | No |
ClinGen TOPMed |
|
|
CA408070992 rs1568471387 |
93 | S>C | No |
ClinGen Ensembl |
|
|
rs1555760555 CA408070997 |
93 | S>T | No |
ClinGen Ensembl |
|
|
CA408070986 rs1381539068 |
94 | W>L | No |
ClinGen gnomAD |
|
|
VAR_046402 rs999409 CA9739813 |
96 | T>M | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA9739811 rs750677382 |
97 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA408070965 rs750677382 |
97 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA9739809 rs761819589 |
98 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs144424752 CA9739807 |
100 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9739808 rs751615531 |
100 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200491794 CA9739806 |
101 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA408070937 rs1313012433 |
102 | L>R | No |
ClinGen gnomAD |
|
|
CA408070928 rs1182837447 |
104 | P>S | No |
ClinGen gnomAD |
|
|
rs1316004065 CA408070924 |
105 | A>P | No |
ClinGen TOPMed |
|
|
rs1600373022 CA408070921 |
105 | A>V | No |
ClinGen Ensembl |
|
|
CA9739803 rs760398289 |
108 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs199738811 CA310940644 |
110 | P>L | No |
ClinGen gnomAD |
|
|
rs772754918 CA9739802 |
110 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1306783791 CA408070867 |
113 | E>D | No |
ClinGen TOPMed |
|
|
rs771707819 CA9739801 |
113 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA408070862 rs1218580602 |
114 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA310940633 rs944836194 |
116 | T>I | No |
ClinGen TOPMed |
|
| TCGA novel | 120 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9739799 rs778526779 |
125 | N>T | No |
ClinGen ExAC gnomAD |
|
|
CA9739798 rs768259763 |
126 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1600372912 CA408070690 |
130 | V>M | No |
ClinGen Ensembl |
|
|
rs780640748 CA9739796 |
131 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
rs750748192 CA9739794 |
132 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA9739795 rs140714335 |
132 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1369860489 CA408070644 |
133 | H>Y | No |
ClinGen gnomAD |
|
|
rs1438690038 CA408070607 |
135 | G>A | No |
ClinGen gnomAD |
|
|
rs1161305393 CA408070568 |
138 | A>S | No |
ClinGen TOPMed |
|
|
rs1161305393 CA408070572 |
138 | A>T | No |
ClinGen TOPMed |
|
|
rs912090275 CA310940605 |
138 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs757536584 CA9739792 |
139 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs751705927 CA9739791 |
140 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs759443334 CA310940599 |
140 | P>T | No |
ClinGen Ensembl |
|
|
rs764212723 CA9739790 |
141 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA310940587 rs945689479 |
141 | P>L | No |
ClinGen Ensembl |
|
|
rs764212723 CA408070536 |
141 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs914854787 CA310940583 |
142 | F>L | No |
ClinGen gnomAD |
|
|
rs146513940 CA9739789 |
144 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9739788 rs139376372 |
144 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs760487915 CA9739786 |
147 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1241967907 CA408070435 |
148 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA310940561 rs1015421343 |
150 | P>L | No |
ClinGen Ensembl |
|
|
CA408070414 rs1555760422 |
150 | P>S | No |
ClinGen Ensembl |
|
|
rs1392340505 CA408070404 |
152 | P>A | No |
ClinGen gnomAD |
|
|
rs768284618 CA9739781 |
153 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA408070390 rs1297770254 |
154 | V>A | No |
ClinGen TOPMed |
|
|
rs907282913 CA310940528 |
157 | Q>* | No |
ClinGen TOPMed |
|
|
CA9739780 rs748747964 |
157 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408070361 rs1281765122 |
159 | L>V | No |
ClinGen TOPMed |
|
|
rs1378025469 CA408070354 |
160 | W>G | No |
ClinGen gnomAD |
|
|
rs1323516399 CA408070343 |
161 | N>S | No |
ClinGen TOPMed |
|
| TCGA novel | 164 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA408070321 rs1470686751 |
164 | A>G | No |
ClinGen gnomAD |
|
|
CA408070324 rs1224637546 |
164 | A>T | No |
ClinGen TOPMed |
|
|
rs746327122 CA9739777 |
168 | S>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 170 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9739775 rs757544366 |
170 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs866327361 CA408070279 |
171 | A>G | No |
ClinGen gnomAD |
|
|
rs747326489 CA9739774 |
171 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs866327361 CA310940495 |
171 | A>V | No |
ClinGen gnomAD |
|
|
rs1351196708 CA408070275 |
172 | H>P | No |
ClinGen gnomAD |
|
|
rs1274023696 CA408070271 |
172 | H>Q | No |
ClinGen gnomAD |
|
|
rs376891201 CA310940487 |
172 | H>Y | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1231053084 CA408070263 |
174 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1480098791 CA408070254 |
175 | I>F | No |
ClinGen TOPMed |
|
|
rs1283368818 CA408070251 |
175 | I>T | No |
ClinGen gnomAD |
|
|
CA310940468 rs911370456 |
178 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs766337073 CA9739770 |
179 | H>D | No |
ClinGen ExAC gnomAD |
|
|
CA408070229 rs766337073 |
179 | H>N | No |
ClinGen ExAC gnomAD |
|
|
CA310940466 rs200061983 |
180 | V>L | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
| TCGA novel | 181 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs767403726 CA9739767 |
183 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9739766 rs375664110 |
184 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs763789707 CA9739764 |
187 | C>* | No |
ClinGen ExAC gnomAD |
|
|
rs867508374 CA310940438 |
187 | C>F | No |
ClinGen TOPMed |
|
|
rs763789707 CA408070177 |
187 | C>W | No |
ClinGen ExAC gnomAD |
|
|
CA408070175 rs1194248031 |
188 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs762582058 CA9739763 |
189 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA9739761 rs139291959 |
190 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs139291959 CA9739760 |
190 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs775178319 CA9739762 |
190 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1263625275 CA408070145 |
193 | V>M | No |
ClinGen gnomAD |
|
|
rs1206832317 CA408070133 |
194 | W>* | No |
ClinGen TOPMed |
|
|
CA9739757 rs372657011 |
197 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 197 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs779014372 CA9739753 |
198 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9739754 rs748340101 |
198 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1186063430 CA408070106 |
199 | K>E | No |
ClinGen TOPMed |
|
|
CA408070107 rs1186063430 |
199 | K>Q | No |
ClinGen TOPMed |
|
|
CA408070091 rs1431903348 |
201 | C>G | No |
ClinGen TOPMed |
|
|
rs1431903348 CA408070092 |
201 | C>R | No |
ClinGen TOPMed |
|
|
CA9739752 rs754999501 |
202 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA408070072 rs1416481691 |
204 | E>K | No |
ClinGen gnomAD |
|
|
CA9739749 rs757096581 |
206 | I>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408070054 rs1365370539 |
206 | I>M | No |
ClinGen TOPMed |
|
|
rs574372342 CA9739750 |
206 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9739748 rs142179639 |
207 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs915510528 CA310940378 |
207 | D>G | No |
ClinGen Ensembl |
|
|
CA9739746 rs762739821 |
212 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1235903560 CA408070012 |
213 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA408070006 rs1462523072 |
214 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA408070001 rs1243493640 |
215 | E>G | No |
ClinGen gnomAD |
|
|
CA408069989 rs148731933 |
217 | L>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs148731933 CA9739745 |
217 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs777212682 CA9739742 |
218 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1358465843 CA408069974 |
219 | Q>H | No |
ClinGen TOPMed |
|
|
rs570587841 CA9739741 |
220 | D>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs970452543 CA310940332 |
223 | L>V | No |
ClinGen TOPMed |
|
|
CA408069940 rs1214943575 |
225 | A>P | No |
ClinGen TOPMed |
|
|
rs994219498 CA310940315 |
227 | A>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 229 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748427894 CA9739737 |
231 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA408069890 rs1445230379 |
232 | S>N | No |
ClinGen gnomAD |
|
| TCGA novel | 233 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA408069876 rs1171261098 |
234 | C>Y | No |
ClinGen gnomAD |
|
|
rs1411687703 CA408069865 |
235 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs779104193 CA408069847 |
238 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs749278665 CA9739733 |
238 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA9739735 rs779104193 |
238 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1165259230 CA408069850 |
238 | D>H | No |
ClinGen gnomAD |
|
|
rs1165259230 CA408069851 |
238 | D>N | No |
ClinGen gnomAD |
|
|
rs1177718016 CA408069828 |
240 | P>T | No |
ClinGen gnomAD |
|
|
CA408069783 rs1234498434 |
243 | Q>K | No |
ClinGen gnomAD |
|
|
CA9739731 rs757180859 |
243 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA408069768 rs1450589593 |
244 | Q>K | No |
ClinGen gnomAD |
|
|
rs777766095 CA9739729 |
245 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408069738 rs1359635310 |
246 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA408069742 rs1359635310 |
246 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs758259152 CA9739728 |
247 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs758259152 CA408069719 |
247 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA310940269 rs942738697 |
247 | S>P | No |
ClinGen TOPMed |
|
| TCGA novel | 250 | Q>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs753250051 CA9739724 |
252 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
rs372715804 CA310940248 |
253 | A>T | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1360065623 CA408069606 |
253 | A>V | No |
ClinGen gnomAD |
|
|
rs1409860873 CA408069589 |
254 | E>A | No |
ClinGen gnomAD |
|
|
CA9739721 rs148312420 |
254 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9739722 rs148312420 |
254 | E>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1477655108 CA408069573 |
255 | I>V | No |
ClinGen gnomAD |
|
|
CA408069534 rs1223172714 |
257 | Q>* | No |
ClinGen TOPMed |
|
|
rs1244490347 CA408069469 |
260 | P>R | No |
ClinGen gnomAD |
|
|
rs762107437 CA9739719 |
267 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA310940213 rs997193587 |
270 | E>A | No |
ClinGen gnomAD |
|
|
rs768718812 CA408069245 |
272 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9739717 rs768718812 |
272 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408069079 rs1219213543 |
279 | P>L | No |
ClinGen gnomAD |
|
|
CA408069074 rs1366039207 |
280 | S>P | No |
ClinGen gnomAD |
|
|
rs749494013 CA9739716 |
281 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9739715 rs376368856 |
282 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 283 | V>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA408069018 rs1360161490 |
283 | V>F | No |
ClinGen gnomAD |
|
|
CA408069022 rs1360161490 |
283 | V>I | No |
ClinGen gnomAD |
|
|
CA9739714 rs371677351 |
284 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1414916585 CA408068991 |
285 | D>N | No |
ClinGen TOPMed |
|
|
CA310940176 rs914221698 |
287 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1159549254 CA408068865 |
290 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA408068835 rs1250328826 |
291 | K>R | No |
ClinGen gnomAD |
|
|
CA408068826 rs1413843176 |
292 | C>G | No |
ClinGen gnomAD |
|
|
CA9739712 rs777782566 |
294 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1664860 CA408068784 rs1200986265 |
294 | R>L | kidney [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA310940174 rs367948155 |
297 | A>G | No |
ClinGen ESP |
|
|
CA408068701 rs1480506139 |
299 | W>* | No |
ClinGen gnomAD |
|
|
rs758285657 CA9739711 |
299 | W>C | No |
ClinGen ExAC gnomAD |
|
|
COSM1025731 rs752496867 CA9739710 |
301 | R>* | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
COSM1240598 rs1396279067 CA408068661 |
301 | R>Q | oesophagus Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA408068609 rs1333783497 |
304 | S>N | No |
ClinGen TOPMed |
|
|
CA9739709 rs778661770 |
305 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs1209778461 CA408068552 |
308 | T>A | No |
ClinGen gnomAD |
|
|
rs1224640324 CA408068532 |
309 | G>E | No |
ClinGen gnomAD |
|
|
rs368369102 CA9739706 |
309 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1276381505 CA408068523 |
310 | V>L | No |
ClinGen gnomAD |
|
|
rs750934899 CA9739704 |
311 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA310940126 rs750934899 |
311 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1568470765 CA408068516 |
311 | A>T | No |
ClinGen Ensembl |
|
|
CA9739703 rs374392560 |
313 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA408068479 rs1403604880 |
314 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA9739701 rs774617549 |
314 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408068476 rs1403604880 |
314 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA408068458 rs199678401 |
315 | H>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs199678401 CA9739698 |
315 | H>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9739699 rs763138942 |
315 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs149560239 CA9739697 |
316 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9739696 rs371010593 |
317 | Q>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs138344026 CA9739695 |
317 | Q>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9739692 rs748740074 |
318 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9739693 rs748740074 |
318 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 320 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA408068390 rs1173976562 |
321 | H>Y | No |
ClinGen TOPMed |
|
|
CA310940070 rs994240816 |
322 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA310940066 rs1017047286 |
325 | K>R | No |
ClinGen TOPMed |
|
|
CA9739690 rs748960163 |
326 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1229650063 CA408068318 |
326 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA408068315 rs775813792 |
327 | R>G | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 327 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs779690705 CA9739689 |
327 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA310940062 rs775813792 |
327 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA408068248 rs1350753895 |
331 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA9739688 rs755642434 |
333 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA310940050 rs1007295978 |
334 | Q>H | No |
ClinGen TOPMed |
|
|
CA9739687 rs749895428 |
335 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs766981340 CA9739686 |
338 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA408068180 rs1568470657 |
339 | G>S | No |
ClinGen Ensembl |
|
|
CA310940038 rs949109571 |
339 | G>V | No |
ClinGen Ensembl |
|
|
rs757808959 CA9739685 |
340 | C>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 341 | H>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1463031076 CA408068166 |
341 | H>Y | No |
ClinGen gnomAD |
|
|
rs1206099850 CA408068147 |
344 | G>W | No |
ClinGen TOPMed |
|
|
CA9739684 rs752089481 |
348 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs982960435 CA310940024 |
349 | A>V | No |
ClinGen TOPMed |
|
|
CA9739682 rs746442167 |
351 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408068011 rs1242955757 |
356 | S>F | No |
ClinGen gnomAD |
|
| TCGA novel | 357 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9739679 rs759725232 |
357 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408067995 rs1316894123 |
359 | L>V | No |
ClinGen gnomAD |
|
|
CA408067984 rs776893316 |
361 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9739677 rs771115445 |
361 | S>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA9739678 rs776893316 |
361 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408067981 rs1402519768 |
362 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
rs200515115 CA310939995 |
362 | Q>R | No |
ClinGen 1000Genomes |
|
| TCGA novel | 364 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA408067928 rs1396676122 |
369 | A>T | No |
ClinGen gnomAD |
|
|
rs1292422052 CA408067923 |
369 | A>V | No |
ClinGen gnomAD |
|
|
CA310939990 rs998446735 |
371 | H>L | No |
ClinGen TOPMed gnomAD |
|
|
CA408067905 rs1439521753 COSM1615451 |
372 | V>D | liver [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs774343771 CA9739675 |
372 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1362391779 CA408067885 |
375 | S>N | No |
ClinGen gnomAD |
|
|
CA9739674 rs376459012 |
375 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9739673 rs749055052 |
376 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA408067878 rs1266773223 |
376 | N>S | No |
ClinGen gnomAD |
|
|
rs779711899 CA9739672 |
377 | F>V | No |
ClinGen ExAC |
|
|
rs1042599414 CA310939968 |
377 | F>Y | No |
ClinGen TOPMed |
|
|
CA9739671 rs755803808 |
378 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs745495500 CA9739670 |
379 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA408067851 rs1374482379 |
380 | N>K | No |
ClinGen Ensembl |
|
| TCGA novel | 380 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA408067848 rs1292716714 |
381 | A>T | No |
ClinGen gnomAD |
|
|
rs200708196 CA9739669 |
383 | C>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9739668 rs756752383 |
384 | F>S | No |
ClinGen ExAC |
|
|
CA9739667 rs752011935 |
386 | A>T | No |
ClinGen ExAC |
|
|
CA9739666 rs147530952 |
386 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA408067813 rs1277551588 |
387 | T>A | No |
ClinGen gnomAD |
|
|
rs1568470516 CA408067789 |
390 | L>F | No |
ClinGen Ensembl |
|
|
rs771148041 CA310939927 |
390 | L>S | No |
ClinGen Ensembl |
|
|
rs758709228 CA9739665 |
392 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs1336218863 CA408067771 |
393 | P>L | No |
ClinGen gnomAD |
|
|
CA9739664 rs753070262 |
394 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408067766 rs1229442289 |
394 | T>I | No |
ClinGen TOPMed |
|
|
CA408067755 rs1402499554 |
396 | S>* | No |
ClinGen gnomAD |
|
|
rs1346820977 CA408067749 |
397 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA408067748 rs1346820977 |
397 | E>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1303421421 CA408067740 |
398 | H>L | No |
ClinGen gnomAD |
|
|
rs6139012 CA310939903 |
400 | A>D | No |
ClinGen gnomAD |
|
|
CA9739663 rs545600199 |
400 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9739662 rs759890017 |
401 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA9739660 rs766635269 |
407 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs760741188 CA9739659 |
407 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1307274 rs762767779 CA9739656 |
417 | S>L | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1255389433 CA408067605 |
418 | T>A | No |
ClinGen gnomAD |
|
|
CA408066205 rs1421698998 |
420 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs76600258 CA9739630 |
421 | L>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs201991265 CA9739628 |
422 | S>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA408066188 rs1387793147 |
423 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1203704927 CA408066182 |
424 | E>K | No |
ClinGen gnomAD |
|
|
rs1435613707 CA408066169 |
425 | Q>H | No |
ClinGen gnomAD |
|
|
CA408066164 rs1239825496 |
426 | K>R | No |
ClinGen TOPMed |
|
|
rs780249076 CA9739624 |
429 | Q>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 433 | I>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1248574629 CA408066114 |
433 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA9739623 rs756406265 |
433 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs534062019 CA9739622 |
434 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs965169684 CA310937507 |
436 | A>T | No |
ClinGen Ensembl |
|
|
CA408066089 rs1568468634 |
438 | T>A | No |
ClinGen Ensembl |
|
|
CA9739619 rs141045392 |
438 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1389902222 CA408066070 |
441 | S>F | No |
ClinGen gnomAD |
|
| TCGA novel | 441 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs765108881 CA9739617 |
442 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA310937497 rs868627513 |
444 | S>F | No |
ClinGen TOPMed |
|
|
rs776454596 CA9739615 |
445 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA408066037 rs1161466665 |
446 | T>M | No |
ClinGen gnomAD |
|
|
rs760437668 CA9739613 |
447 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs772740134 CA9739612 |
447 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA9739610 rs148208881 |
448 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9739609 rs148208881 |
448 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs771617591 CA9739611 |
448 | R>W | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 449 | L>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9739608 rs769246832 |
451 | R>G | No |
ClinGen ExAC |
|
|
CA9739606 rs749788435 |
451 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1009462661 CA310937475 |
452 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA9739604 rs756429435 |
453 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9739603 rs746106006 |
455 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA9739602 rs781210156 |
455 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA408065979 rs1568468561 |
457 | L>F | No |
ClinGen Ensembl |
|
|
CA9739600 rs751596624 |
459 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs764124964 CA9739599 |
459 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA408065954 rs1280242678 |
461 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1280242678 CA408065955 |
461 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA310937458 rs761455270 |
463 | N>S | No |
ClinGen Ensembl |
|
|
COSM723133 rs1435788212 CA408065936 |
464 | T>A | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA408065932 rs1372502364 |
464 | T>I | No |
ClinGen TOPMed |
|
|
rs754960301 CA9739598 |
465 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 465 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA408065914 rs1305228557 |
467 | R>K | No |
ClinGen gnomAD |
|
|
rs1309149036 CA408065911 |
467 | R>S | No |
ClinGen TOPMed |
|
|
rs1425531867 CA408065910 |
468 | P>T | No |
ClinGen gnomAD |
|
|
rs1366027536 CA408065901 |
469 | G>D | No |
ClinGen gnomAD |
|
|
rs753709017 CA9739597 |
471 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9739596 rs377263612 |
472 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA408065881 rs1266143137 |
473 | E>Q | No |
ClinGen gnomAD |
|
|
CA9739575 rs761614081 |
476 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs776267908 CA9739574 |
476 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs762494597 CA9739572 |
477 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA408065799 rs1293772170 |
477 | S>I | No |
ClinGen gnomAD |
|
|
CA408065803 rs1293772170 |
477 | S>N | No |
ClinGen gnomAD |
|
|
CA408065788 rs1278714675 |
478 | I>L | No |
ClinGen TOPMed |
|
|
rs34205880 VAR_046403 CA9739570 |
479 | L>P | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA310936088 rs911709140 |
480 | G>A | No |
ClinGen TOPMed |
|
|
rs911709140 CA310936090 |
480 | G>D | No |
ClinGen TOPMed |
|
|
rs771275350 CA310936084 |
482 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771275350 CA9739567 |
482 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408065731 rs1362447254 |
483 | C>S | No |
ClinGen gnomAD |
|
|
rs1338160207 CA408065725 |
483 | C>Y | No |
ClinGen gnomAD |
|
|
rs1371965257 CA408065702 |
485 | S>T | No |
ClinGen gnomAD |
|
|
CA9739566 rs762262205 |
488 | R>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs762262205 CA408065673 |
488 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9739565 rs371974408 |
489 | V>I | No |
ClinGen ESP ExAC gnomAD |
|
|
rs772156445 CA9739564 |
492 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs748128271 CA408065642 |
493 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408065646 rs1437593550 |
493 | Y>N | No |
ClinGen Ensembl |
|
|
CA9739563 rs748128271 |
493 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408065639 rs1413661040 |
494 | F>L | No |
ClinGen TOPMed |
|
|
CA408065618 rs1245460399 |
495 | K>I | No |
ClinGen gnomAD |
|
|
rs1437972435 CA408065583 |
497 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs780072656 CA9739562 |
498 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1600352827 CA408065552 |
500 | Y>S | No |
ClinGen Ensembl |
|
|
CA408065514 rs1377731587 |
503 | P>S | No |
ClinGen TOPMed |
|
|
rs781197567 CA9739559 |
505 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408065475 rs1367380585 |
506 | H>P | No |
ClinGen TOPMed |
|
|
CA408065473 rs1367380585 |
506 | H>R | No |
ClinGen TOPMed |
|
|
CA9739558 rs757045533 |
507 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs763787520 CA9739556 |
508 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA9739555 rs368557466 |
510 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA408065413 rs760021720 |
511 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA9739552 rs760021720 |
511 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs563381267 CA9739553 |
511 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA408065389 rs1600352707 |
513 | L>R | No |
ClinGen Ensembl |
|
|
rs143998791 CA9739551 |
514 | G>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200363247 CA9739550 |
515 | E>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1388465352 CA408065370 |
515 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA9739549 rs760976046 |
517 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1418943473 CA408065329 |
518 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA408065326 rs1248512015 |
518 | R>H | No |
ClinGen gnomAD |
|
|
rs140380634 CA9739547 |
520 | L>P | No |
ClinGen ESP ExAC gnomAD |
|
|
rs748372333 CA408065285 |
522 | M>K | No |
ClinGen ExAC gnomAD |
|
|
rs748372333 CA9739546 |
522 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs778910767 CA9739545 |
523 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745796395 CA9739543 |
525 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA408065192 rs371199833 |
529 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9739542 rs371199833 |
529 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1467216052 CA408065197 |
529 | R>W | No |
ClinGen TOPMed |
|
|
rs201389796 CA9739541 |
530 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA9739539 rs777676230 |
531 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA408065150 rs1600352501 |
533 | S>I | No |
ClinGen Ensembl |
|
|
rs534251581 CA310936050 |
535 | D>V | No |
ClinGen 1000Genomes |
|
|
CA9739537 rs752379442 |
536 | V>M | Variant assessed as Somatic; 4.666e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA408065089 rs1453711369 |
538 | R>Q | No |
ClinGen gnomAD |
|
|
rs1268265997 CA634329183 |
538 | R>S | No |
ClinGen gnomAD |
|
|
CA310936045 rs950917852 |
538 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1279315288 CA408065082 |
539 | V>L | No |
ClinGen TOPMed |
|
|
rs766826246 CA9739534 |
540 | H>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9739533 rs766826246 |
540 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
No associated diseases with O94941
5 regional properties for O94941
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Zinc finger, RING-type | 483 - 528 | IPR001841 |
| domain | U-box domain | 258 - 338 | IPR003613 |
| conserved_site | Zinc finger, RING-type, conserved site | 504 - 513 | IPR017907 |
| domain | RNF37, RING-Ubox | 260 - 312 | IPR039925 |
| domain | RING finger protein 37, N-terminal | 4 - 215 | IPR045696 |
Functions
| Description | ||
|---|---|---|
| EC Number | 2.3.2.27 | Aminoacyltransferases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| focal adhesion | A cell-substrate junction that anchors the cell to the extracellular matrix and that forms a point of termination of actin filaments. In insects focal adhesion has also been referred to as hemi-adherens junction (HAJ). |
| nuclear body | Extra-nucleolar nuclear domains usually visualized by confocal microscopy and fluorescent antibodies to specific proteins. |
| 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. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| metal ion binding | Binding to a metal ion. |
| ubiquitin protein ligase binding | Binding to a ubiquitin protein ligase enzyme, any of the E3 proteins. |
| ubiquitin-ubiquitin ligase activity | Isoenergetic transfer of ubiquitin from one protein to an existing ubiquitin chain via the reaction X-ubiquitin + Y-ubiquitin -> Y-ubiquitin-ubiquitin + X, where both the X-ubiquitin and Y-ubiquitin-ubiquitin linkages are thioester bonds between the C-terminal glycine of ubiquitin and a sulfhydryl side group of a cysteine residue. |
1 GO annotations of biological process
| Name | Definition |
|---|---|
| protein polyubiquitination | Addition of multiple ubiquitin groups to a protein, forming a ubiquitin chain. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MVINLCLPQF | RPRIHCNKIS | ADGYEVENLI | SEDLTKRSHG | FRTEYFIKPP | VYVTVSFPFN |
| 70 | 80 | 90 | 100 | 110 | 120 |
| VEICRINIDL | TAGGGQNVTG | LEMYTSASSS | RVSWNTPQCR | TLGPAEPSVP | DKEAFTLVGK |
| 130 | 140 | 150 | 160 | 170 | 180 |
| VLLKNQSQVV | FSHRGFKARP | PFGAMEATLP | SPAVVAQELW | NKGALSLSHV | AHLRICITHV |
| 190 | 200 | 210 | 220 | 230 | 240 |
| TGGGIPCIKR | LEVWGQPAKT | CSQEVIDSIL | LVTSENLPQD | VALQAPALPM | ESDCDPGDQP |
| 250 | 260 | 270 | 280 | 290 | 300 |
| ESQQAPSSLQ | KLAEIIQDVP | EEFLDPITLE | IMPCPMLLPS | GKVIDQSTLE | KCNRSEATWG |
| 310 | 320 | 330 | 340 | 350 | 360 |
| RVPSDPFTGV | AFTPHSQPLP | HPSLKARIDH | FLLQHSIPGC | HLLGRAQTAL | AVIPSSIVLP |
| 370 | 380 | 390 | 400 | 410 | 420 |
| SQKRKIEQAE | HVPDSNFGVN | ASCFSATSPL | VLPTTSEHTA | KKMKATNEPS | LTHMDCSTGP |
| 430 | 440 | 450 | 460 | 470 | 480 |
| LSHEQKLSQS | LEIALASTLG | SMPSFTARLT | RGQLQHLGTR | GSNTSWRPGT | GSEQPGSILG |
| 490 | 500 | 510 | 520 | 530 | 540 |
| PECASCKRVF | SPYFKKEPVY | QLPCGHLLCR | PCLGEKQRSL | PMTCTACQRP | VASQDVLRVH |
| F |