Q86XT4
PR
Gene name |
TRIM50 |
Protein name |
E3 ubiquitin-protein ligase TRIM50 |
Names |
RING-type E3 ubiquitin transferase TRIM50, Tripartite motif-containing protein 50 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:135892 |
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 Q86XT4
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q86XT4-F1 | Predicted | AlphaFoldDB |
485 variants for Q86XT4
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1208414552 CA367772978 |
4 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
rs782056001 CA4286511 |
5 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782056001 CA4286510 |
5 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1264559873 CA367772966 |
5 | V>M | No |
ClinGen TOPMed |
|
|
rs6980124 CA160054549 VAR_020491 |
8 | P>L | No |
ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA918043133 rs71517080 |
8 | P>L | No |
ClinGen Ensembl |
|
|
rs6980124 CA1716990136 |
8 | P>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA367772933 rs1554545727 |
8 | P>S | No |
ClinGen gnomAD |
|
|
rs1554545720 CA456049091 |
9 | E>K | No |
ClinGen gnomAD |
|
|
CA4286506 rs781978848 |
10 | L>Q | No |
ClinGen ExAC |
|
|
CA4286505 rs782348087 |
12 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs28626137 CA1716990130 |
13 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs780171194 CA4286502 |
13 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs28626137 VAR_085709 CA160054537 |
13 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD UniProt |
|
|
CA367772915 rs1457270919 |
14 | L>R | No |
ClinGen TOPMed |
|
|
CA367772910 rs1554545713 |
15 | Q>* | No |
ClinGen gnomAD |
|
|
CA4286501 rs782294870 |
15 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA4286500 rs782643626 |
17 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA4286499 rs782517132 |
18 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA367772868 rs1161240763 |
19 | C>S | No |
ClinGen TOPMed gnomAD |
|
|
rs367549808 CA4286498 |
19 | C>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4286497 rs782611374 |
20 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs1554545702 CA367772840 |
21 | E>D | No |
ClinGen gnomAD |
|
|
CA367772849 rs1554545703 |
21 | E>K | No |
ClinGen gnomAD |
|
|
rs782463575 CA4286496 |
22 | V>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 22 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1420171550 CA367772812 |
24 | K>Q | No |
ClinGen TOPMed |
|
|
rs1297071712 CA367772807 |
24 | K>R | No |
ClinGen TOPMed |
|
| TCGA novel | 28 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs554973944 CA4286492 |
28 | M>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4286491 rs199788745 |
29 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1554545689 CA367772746 |
30 | Q>K | No |
ClinGen gnomAD |
|
|
CA4286489 rs781948785 |
31 | C>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4286487 rs782048648 |
32 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1563304811 CA367772721 |
32 | G>S | No |
ClinGen Ensembl |
|
|
CA367772714 rs782048648 |
32 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1554545677 CA367772667 |
36 | C>F | No |
ClinGen gnomAD |
|
|
rs1554545677 CA367772671 |
36 | C>Y | No |
ClinGen gnomAD |
|
|
CA4286484 rs782249706 |
37 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4286483 rs200199950 |
37 | K>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4286482 rs782340343 |
38 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs868911917 CA367772653 |
38 | G>R | No |
ClinGen Ensembl |
|
|
rs868911917 CA367772654 |
38 | G>S | No |
ClinGen Ensembl |
|
|
rs1211671757 CA367772640 |
39 | C>Y | No |
ClinGen TOPMed |
|
|
CA367772570 rs1255819795 |
45 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1583786052 CA367772547 |
46 | H>P | No |
ClinGen Ensembl |
|
|
CA4286477 rs138877207 |
50 | E>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs138877207 CA4286476 |
50 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs202100558 COSM3778558 CA4286475 COSM3778559 |
52 | R>C | urinary_tract Variant assessed as Somatic; 4.625e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA4286473 rs368619027 |
52 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs368619027 CA4286474 |
52 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs61743391 CA4286470 |
55 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs61743391 CA160054455 |
55 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4286468 rs782084990 |
57 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4286467 rs782084990 |
57 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781860246 CA4286469 |
57 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1401132833 CA367772351 |
58 | Q>R | No |
ClinGen TOPMed |
|
|
CA4286465 rs782315115 |
59 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782027783 CA4286463 |
60 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA367772300 rs1239814521 |
61 | D>N | No |
ClinGen TOPMed |
|
|
CA4286459 rs782340159 |
62 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs187852643 CA4286460 |
62 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs782192203 CA4286458 |
65 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs150661581 CA367772170 CA4286457 |
68 | N>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA367772168 rs781883924 |
69 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781883924 CA4286455 |
69 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367772108 rs1177711320 |
73 | R>W | No |
ClinGen TOPMed |
|
|
rs547816499 CA4286450 |
74 | V>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA367772081 rs547816499 |
74 | V>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs113241101 CA4286451 |
74 | V>L | No |
ClinGen ExAC gnomAD |
|
|
COSM3785760 rs113241101 CA160054371 COSM3785761 |
74 | V>M | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs61741334 CA4286449 |
75 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA367772076 rs1378480183 |
75 | I>N | No |
ClinGen TOPMed |
|
|
CA4286446 rs142391784 |
76 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs375566355 CA4286444 |
82 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1554545619 CA367771964 |
83 | D>A | No |
ClinGen gnomAD |
|
|
CA367771962 rs1554545619 |
83 | D>G | No |
ClinGen gnomAD |
|
|
rs1554545622 CA367771969 |
83 | D>N | No |
ClinGen gnomAD |
|
|
CA4286442 rs781931070 |
84 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367771926 rs781931070 |
84 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs868978612 CA367771889 |
86 | P>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA4286440 rs111638818 |
86 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs111638818 CA4286439 |
86 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA4286438 rs782383345 |
87 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 89 | C>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782230906 CA4286437 |
89 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA4286436 rs201629397 |
90 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4286435 rs201629397 |
90 | V>M | Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs782184331 CA4286434 |
91 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs141073941 CA4286433 |
92 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 93 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4286431 rs138667864 |
93 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs782550511 CA4286432 |
93 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs782473001 CA4286429 |
95 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1554545608 CA367771712 |
95 | P>S | No |
ClinGen gnomAD |
|
|
CA367771695 rs1191733830 |
96 | L>F | No |
ClinGen TOPMed |
|
|
rs1554545604 CA367771663 |
97 | S>R | No |
ClinGen gnomAD |
|
|
CA4286426 rs142292939 |
99 | F>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4286427 rs146081594 |
99 | F>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA367771589 rs1171823115 |
101 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs782127544 CA4286421 |
104 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA367771514 rs1554545594 |
104 | Q>R | No |
ClinGen gnomAD |
|
|
rs1554545591 CA367771402 |
109 | G>V | No |
ClinGen gnomAD |
|
|
CA4286417 rs781924268 |
112 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4286416 rs782425335 |
112 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs781924268 CA4286418 |
112 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4286415 rs782284685 |
113 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1554545582 CA367771334 |
114 | L>R | No |
ClinGen gnomAD |
|
|
CA4286413 rs782503349 |
116 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs782503349 CA367771316 |
116 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
CA4286412 rs782219147 |
117 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA4286410 rs782461955 |
118 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782461955 CA4286411 |
118 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4286409 rs781786398 |
119 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1384066129 CA367771266 |
120 | H>Y | No |
ClinGen TOPMed |
|
|
rs145130759 CA4286408 |
121 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4286406 rs576511851 |
123 | T>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA367771226 rs576511851 |
123 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs782694300 CA4286400 |
125 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367771218 rs782694300 |
125 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4286402 rs782694300 |
125 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367771197 rs1554545558 |
126 | S>C | No |
ClinGen gnomAD |
|
|
CA4286397 rs782395135 |
128 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4286395 rs151051213 |
129 | Y>C | No |
ClinGen 1000Genomes ESP TOPMed gnomAD |
|
|
rs750711026 CA160054248 |
129 | Y>H | No |
ClinGen Ensembl |
|
| TCGA novel | 130 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs144306324 CA4286394 |
130 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs765472587 CA367771127 |
131 | R>C | No |
ClinGen gnomAD |
|
|
CA160054236 rs765472587 |
131 | R>G | No |
ClinGen gnomAD |
|
|
rs553312213 CA4286393 |
131 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs553312213 CA367771125 |
131 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA160054209 rs754332478 |
132 | M>K | No |
ClinGen Ensembl |
|
|
CA160054212 rs762272408 |
132 | M>L | No |
ClinGen TOPMed |
|
|
CA367771120 rs762272408 |
132 | M>V | No |
ClinGen TOPMed |
|
|
rs534881388 CA160054200 |
133 | K>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs534881388 CA4286391 |
133 | K>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs782329354 CA4286368 |
134 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA367770148 rs1363064204 |
135 | E>D | No |
ClinGen TOPMed |
|
|
CA160053577 rs374313766 |
136 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA367770114 rs1554544849 |
137 | A>E | No |
ClinGen gnomAD |
|
|
rs782692581 CA4286366 |
137 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4286364 rs3108460 |
140 | I>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA367770061 rs3108460 |
140 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 141 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA367770038 rs1554544847 |
142 | E>Q | No |
ClinGen gnomAD |
|
|
rs782641124 CA4286363 |
143 | L>Q | No |
ClinGen ExAC |
|
|
rs143619492 CA4286362 |
147 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4286361 rs781797513 |
148 | K>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 149 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 150 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1163189893 CA367769859 |
152 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1163189893 CA367769857 |
152 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs781895936 CA4286358 |
153 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs782803559 CA4286357 |
154 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA4286355 rs539646371 |
155 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA4286354 rs782361268 |
157 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs781921754 CA4286352 |
159 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782426358 CA4286351 |
160 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA367769705 rs782426358 |
160 | N>T | No |
ClinGen ExAC gnomAD |
|
|
CA160053556 rs782607897 |
161 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM2157132 rs184647228 CA160053551 COSM2157131 |
161 | R>Q | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes NCI-TCGA TOPMed gnomAD |
|
rs782607897 CA4286350 |
161 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4286348 rs782384451 |
162 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782384451 CA367769680 |
162 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782384451 CA367769674 |
162 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs557048434 CA4286347 |
163 | R>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs557048434 CA4286346 |
163 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4286345 rs782446643 |
163 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1554544833 CA367769645 |
164 | I>T | No |
ClinGen gnomAD |
|
|
rs782679168 CA4286343 |
165 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1333536363 CA367769485 |
167 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs782524904 CA4286316 |
168 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782524904 CA4286317 |
168 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1231562542 CA367769447 |
170 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs781859628 CA4286315 |
171 | F>C | No |
ClinGen ExAC gnomAD |
|
|
rs1554544652 CA367769435 |
171 | F>L | No |
ClinGen gnomAD |
|
|
rs782087302 CA4286313 |
175 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4286312 rs781942455 |
176 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs373843128 CA4286311 |
176 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4286310 rs144412003 |
177 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs530264942 CA4286309 |
177 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1252396557 CA367769342 |
178 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1170645452 CA367769299 |
181 | E>K | No |
ClinGen TOPMed |
|
|
rs782714995 CA367769282 |
182 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368693074 CA4286307 |
183 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200754952 CA4286306 |
185 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200754952 CA367769236 |
185 | L>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA160053283 rs149613421 |
186 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs149613421 CA4286305 |
186 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs782194247 CA4286304 |
187 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs782419748 CA4286302 |
188 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs782268780 CA4286301 |
189 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1297276194 CA367769108 |
191 | A>S | No |
ClinGen TOPMed |
|
|
CA4286300 rs782638352 |
192 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs147367299 CA4286299 |
192 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4286294 rs373729184 |
196 | G>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA367769031 rs373729184 |
196 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4286295 rs782600940 |
196 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA4286292 rs541236446 |
198 | G>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs138623562 CA4286293 |
198 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| rs1554544598 | 199 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs577280948 CA4286291 |
199 | G>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA367768981 rs1272629992 |
200 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1554544595 CA367768960 |
201 | T>I | No |
ClinGen gnomAD |
|
|
CA4286290 rs781854283 |
201 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs558739548 CA4286288 |
202 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs543800440 CA4286286 |
202 | R>H | No |
ClinGen 1000Genomes TOPMed |
|
|
rs1371081136 CA367768900 |
206 | A>V | No |
ClinGen TOPMed |
|
|
CA367768872 rs1462960565 |
208 | L>P | No |
ClinGen TOPMed |
|
|
rs781932690 CA4286285 |
209 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs782434106 CA4286284 |
211 | Q>K | No |
ClinGen ExAC |
|
|
CA4286281 rs782004598 |
213 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1393186529 CA367768774 |
213 | E>G | No |
ClinGen TOPMed |
|
|
CA367768718 rs1459406093 |
215 | A>V | No |
ClinGen TOPMed |
|
|
rs782237591 CA4286279 |
217 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA367768697 rs1290317752 |
217 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs576498564 CA4286278 |
218 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA367768668 rs1554544566 |
218 | T>I | No |
ClinGen gnomAD |
|
| TCGA novel | 218 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 219 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4286276 rs782191300 |
219 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4286277 rs145742720 |
219 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1554544561 CA367768644 |
220 | E>K | No |
ClinGen gnomAD |
|
|
rs140746141 CA367768622 |
221 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs140746141 CA4286274 |
221 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs782666379 CA4286275 |
221 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA367768608 rs1554544556 |
222 | L>P | No |
ClinGen gnomAD |
|
|
rs1293198154 CA4286272 |
223 | A>V | No |
ClinGen TOPMed |
|
|
COSM293099 COSM293098 CA4286271 rs781863428 |
226 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs782648928 CA367768523 |
227 | C>G | No |
ClinGen ExAC gnomAD |
|
|
CA4286270 rs782648928 |
227 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs782491174 CA4286269 |
228 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA160053169 rs267601561 |
230 | E>K | No |
ClinGen Ensembl |
|
|
CA367768434 rs1332830621 |
231 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
CA4286265 rs568335787 |
232 | F>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1261346505 CA367768366 |
233 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA367768291 rs1554544532 |
235 | E>D | No |
ClinGen gnomAD |
|
|
rs377370405 CA367768276 |
236 | D>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1554544531 CA367768289 |
236 | D>N | No |
ClinGen gnomAD |
|
|
rs377370405 CA4286262 |
236 | D>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1259404888 CA367768267 |
237 | H>N | No |
ClinGen TOPMed gnomAD |
|
|
CA367768243 rs1476065210 |
238 | H>P | No |
ClinGen TOPMed |
|
|
CA4286261 rs534479353 |
238 | H>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201738867 CA4286258 |
239 | K>E | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1160682486 CA367768219 |
239 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA4286256 rs781913460 |
242 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4286257 rs148060392 |
242 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA367767923 rs1254283260 |
245 | H>Q | No |
ClinGen TOPMed |
|
|
rs1554544483 CA367767938 |
245 | H>Y | No |
ClinGen gnomAD |
|
|
CA4286222 rs782787112 |
246 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
CA4286221 rs782528947 |
247 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA4286220 rs781861674 |
248 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA367767865 rs1172558384 |
249 | S>F | No |
ClinGen TOPMed |
|
|
rs1393730258 CA367767863 |
250 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1563299919 CA367766706 |
252 | E>D | No |
ClinGen Ensembl |
|
|
CA4286192 rs143605547 |
254 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs782138989 CA4286190 |
255 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA367766645 rs1310221249 |
256 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1310221249 CA367766642 |
256 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA160051782 rs200181301 |
257 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200181301 CA4286188 |
257 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs148866547 CA4286189 |
257 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 258 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782239718 CA4286187 |
259 | L>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367766569 rs1313883803 |
261 | G>S | No |
ClinGen TOPMed |
|
|
rs1210653451 CA367766560 |
261 | G>V | No |
ClinGen TOPMed |
|
|
CA4286186 rs145574112 |
262 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA367766533 rs1200199246 |
262 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA367766476 rs1554544132 |
265 | P>L | No |
ClinGen gnomAD |
|
|
rs782589610 CA160051770 |
267 | S>C | No |
ClinGen gnomAD |
|
|
rs1554544128 CA367766462 |
267 | S>P | No |
ClinGen gnomAD |
|
|
CA367766460 rs782589610 |
267 | S>Y | No |
ClinGen gnomAD |
|
|
rs1554544124 CA367766456 |
268 | F>V | No |
ClinGen gnomAD |
|
| TCGA novel | 270 | P>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA160051768 rs782495345 |
270 | P>L | No |
ClinGen TOPMed |
|
|
CA4286184 rs782187401 |
271 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1554544120 CA367766436 |
271 | G>R | No |
ClinGen gnomAD |
|
|
CA4286185 rs782187401 |
271 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4286181 rs781872888 |
273 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782529774 CA4286182 |
273 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA4286180 rs782610182 |
275 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1554544109 CA367766334 |
279 | L>P | No |
ClinGen gnomAD |
|
|
CA4286178 COSM323992 COSM323993 rs781802145 |
281 | V>M | lung haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
COSM1698740 COSM1698741 CA4286177 rs782695612 |
282 | W>* | skin [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs200611061 CA4286176 |
282 | W>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs782695612 CA367766298 |
282 | W>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4286174 rs781884638 |
285 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA4286173 rs145677183 |
286 | F>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs782183118 CA160051745 |
287 | R>Q | No |
ClinGen Ensembl |
|
|
rs377514991 CA160051748 |
287 | R>W | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA367765877 rs1554543614 |
292 | A>V | No |
ClinGen gnomAD |
|
|
rs782663544 CA4286156 |
293 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1554543611 CA367765874 |
293 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 293 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA367765854 rs1190335254 |
294 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA367765865 rs1554543606 |
294 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 296 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4286153 rs782743956 |
296 | L>H | No |
ClinGen ExAC gnomAD |
|
|
rs1248404787 CA367765825 |
297 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1554543602 CA367765801 |
299 | D>A | No |
ClinGen gnomAD |
|
|
CA367765789 rs1448833005 |
301 | A>T | No |
ClinGen TOPMed |
|
|
CA367765764 rs1554543599 |
304 | H>N | No |
ClinGen gnomAD |
|
|
CA367765761 rs1586472545 |
304 | H>P | No |
ClinGen Ensembl |
|
|
CA367765762 rs1554543599 |
304 | H>Y | No |
ClinGen gnomAD |
|
|
rs1554543592 CA367765726 |
307 | L>P | No |
ClinGen gnomAD |
|
|
CA367765718 rs868951284 |
308 | E>G | No |
ClinGen gnomAD |
|
|
rs1554543591 CA367765723 |
308 | E>K | No |
ClinGen gnomAD |
|
|
rs1554543583 CA367765712 |
309 | L>F | No |
ClinGen gnomAD |
|
|
CA367765694 rs868940749 |
310 | S>F | No |
ClinGen gnomAD |
|
|
rs201392313 COSM1230352 CA4286150 COSM1230353 |
314 | T>M | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs782118413 CA4286146 |
316 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4286147 rs201147866 |
316 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1554543565 CA367765630 |
319 | G>E | No |
ClinGen gnomAD |
|
|
rs370443781 CA4286142 CA4286143 |
319 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1554543562 CA367765625 |
320 | L>F | No |
ClinGen gnomAD |
|
|
rs1586472372 CA367765614 |
322 | A>P | No |
ClinGen Ensembl |
|
|
CA4286138 rs782366525 |
324 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4286139 rs782366525 |
324 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367765591 rs1554543559 |
324 | R>W | No |
ClinGen TOPMed |
|
|
rs782216370 CA367765586 |
325 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782216370 CA4286137 |
325 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367765584 rs1554543551 |
325 | R>P | No |
ClinGen gnomAD |
|
|
rs1554543551 CA367765582 |
325 | R>Q | No |
ClinGen gnomAD |
|
|
rs1554543549 CA367765574 |
326 | A>D | No |
ClinGen gnomAD |
|
|
rs1554543549 CA367765569 |
326 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 328 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4286136 rs782598903 |
329 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367765542 rs782598903 |
329 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1473078895 CA367765517 |
331 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA367765515 rs1180845994 |
331 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
COSM1451944 CA367765498 COSM1451945 rs1554543523 |
333 | D>N | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1563297992 CA367765491 |
333 | D>V | No |
ClinGen Ensembl |
|
|
rs1554543517 CA367765475 |
335 | S>G | No |
ClinGen gnomAD |
|
|
rs1586472295 CA367765463 |
336 | T>P | No |
ClinGen Ensembl |
|
|
CA4286134 rs782670160 |
337 | C>* | No |
ClinGen ExAC gnomAD |
|
|
CA367765444 rs1554543509 |
338 | V>I | No |
ClinGen gnomAD |
|
|
CA367765446 rs1554543509 |
338 | V>L | No |
ClinGen gnomAD |
|
|
CA160051268 rs782365553 |
340 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA367765415 rs1473399257 |
341 | S>N | No |
ClinGen TOPMed |
|
|
rs782522740 CA4286132 |
342 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs782522740 CA367765407 |
342 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370785473 CA367765404 |
342 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370785473 CA4286131 |
342 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1554543497 CA367765399 |
343 | G>C | No |
ClinGen gnomAD |
|
| TCGA novel | 343 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA367765396 rs1554543497 |
343 | G>S | No |
ClinGen gnomAD |
|
|
CA160051258 rs558080563 |
345 | S>F | No |
ClinGen 1000Genomes |
|
|
rs782065799 CA4286128 |
346 | C>W | No |
ClinGen ExAC gnomAD |
|
|
CA4286127 rs781787538 |
347 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4286125 rs782138061 |
348 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4286124 COSM1230354 COSM1230355 rs781997213 |
348 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA4286123 rs782367929 |
349 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA4286122 rs782094248 |
351 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA367765306 rs1554543471 |
352 | E>Q | No |
ClinGen gnomAD |
|
|
CA4286120 rs782335211 |
355 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA4286117 rs782181728 |
357 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1442978984 CA367765247 |
357 | S>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1442978984 CA367765245 |
357 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs569054589 CA4286115 |
359 | S>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4286114 rs782261422 |
360 | D>N | No |
ClinGen ExAC gnomAD |
|
|
COSM3394874 rs202235505 CA4286113 COSM3394873 |
362 | R>C | Variant assessed as Somatic; 0.0 impact. pancreas large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
COSM1091531 CA4286112 rs140593031 COSM1091532 |
362 | R>H | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA367765190 rs202235505 |
362 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1554543453 CA367765174 CA367765172 |
364 | G>R | No |
ClinGen gnomAD |
|
|
CA367765163 rs1410784366 |
365 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1410784366 CA367765161 |
365 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA4286111 rs146826808 |
366 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA160051224 rs782601008 |
369 | T>I | No |
ClinGen Ensembl |
|
|
rs1414447987 CA367765100 |
370 | A>G | No |
ClinGen TOPMed |
|
|
rs373162033 CA4286109 |
370 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1554543438 CA367765089 |
371 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA4286107 COSM1330539 COSM1330538 rs782766082 |
372 | R>H | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs782105630 CA4286106 |
375 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 377 | N>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA367764971 rs1348937984 |
379 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1348937984 CA367764967 |
379 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA4286103 rs782075450 |
381 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA367764935 rs1554543422 |
382 | H>Y | No |
ClinGen gnomAD |
|
|
rs782439585 CA4286101 |
383 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4286098 rs202153646 |
384 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4286099 rs202153646 |
384 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4286097 rs782227335 |
388 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1200523716 CA367764812 |
391 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA4286095 rs782312247 |
391 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1246879207 CA367764804 |
392 | G>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
COSM1673206 rs1554543394 COSM1673207 CA367764810 |
392 | G>S | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs782523434 CA4286092 |
393 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4286093 rs782523434 |
393 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA4286094 rs782293591 |
393 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 396 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4286091 rs370311701 |
396 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA4286090 rs782619307 |
397 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA4286089 rs782457251 |
399 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs1554543381 CA367764695 |
401 | P>S | No |
ClinGen gnomAD |
|
|
CA4286086 rs782556780 |
402 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4286085 rs151103619 |
402 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA367764686 rs782556780 |
402 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4286082 rs376031826 |
403 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4286083 rs376031826 |
403 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1435520613 CA367764677 |
404 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1435520613 CA367764679 |
404 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA367764663 rs1554543348 |
406 | P>L | No |
ClinGen gnomAD |
|
|
CA367764664 rs1554543348 |
406 | P>R | No |
ClinGen gnomAD |
|
| TCGA novel | 406 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA367764661 rs372424421 |
407 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4286078 rs372424421 |
407 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA367764651 rs111279110 |
409 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs111279110 CA4286076 |
409 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs148550531 CA4286075 |
410 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1290156764 CA367764623 |
413 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs868915961 CA367764622 |
413 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs782202787 CA4286073 |
415 | G>E | No |
ClinGen ExAC gnomAD |
|
|
COSM1451940 rs782346086 COSM1451941 CA4286074 |
415 | G>R | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs782202787 CA367764609 |
415 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs782455774 CA4286071 |
417 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA367764594 rs1554543301 |
418 | L>V | No |
ClinGen gnomAD |
|
|
rs1554543298 CA367764583 |
419 | H>Q | No |
ClinGen gnomAD |
|
|
CA367764581 rs1554543293 |
420 | Y>H | No |
ClinGen gnomAD |
|
|
CA367764570 rs1250253175 |
421 | E>K | No |
ClinGen TOPMed |
|
|
CA4286070 rs782304040 |
422 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs147515596 CA4286066 |
424 | E>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs782466703 CA4286064 CA4286065 |
424 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1554543286 CA367764532 |
424 | E>G | No |
ClinGen gnomAD |
|
|
rs147515596 CA367764539 |
424 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA367764491 rs1554543279 |
428 | F>I | No |
ClinGen gnomAD |
|
|
COSM1698738 COSM1698739 rs782776291 CA4286059 |
429 | D>N | skin [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA4286060 rs782776291 |
429 | D>Y | No |
ClinGen TOPMed |
|
|
CA367764454 rs1554543269 |
430 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 431 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1435483683 CA367764431 |
432 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA367764428 rs782003188 |
432 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA4286057 rs782003188 |
432 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs1296826496 CA367764422 |
433 | P>S | No |
ClinGen TOPMed |
|
|
rs868976089 CA367764414 |
434 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA4286056 rs782756232 |
437 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1284270506 CA367764374 |
437 | R>W | No |
ClinGen TOPMed |
|
|
CA4286055 rs782092841 |
438 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4286053 rs782320493 |
439 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367764330 rs868911618 |
440 | Y>* | No |
ClinGen Ensembl |
|
|
CA4286052 rs782052255 |
441 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA367764313 rs1554543245 |
441 | T>I | No |
ClinGen gnomAD |
|
|
rs1208423493 CA367764292 |
442 | F>L | No |
ClinGen TOPMed |
|
|
CA4286051 rs564842605 |
443 | Q>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs564842605 CA367764287 |
443 | Q>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4286050 rs782411585 |
445 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA367764241 rs1554543236 |
445 | D>V | No |
ClinGen gnomAD |
|
|
CA367764178 rs1367937849 |
448 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1471962543 CA367764133 |
450 | L>F | No |
ClinGen TOPMed |
|
|
CA4286049 rs374098490 |
450 | L>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1412925591 CA367764112 |
451 | Y>S | No |
ClinGen TOPMed gnomAD |
|
|
rs868930040 CA367764093 |
452 | P>H | No |
ClinGen Ensembl |
|
|
CA4286048 rs552439731 |
458 | W>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1563297282 CA367763986 |
458 | W>C | No |
ClinGen Ensembl |
|
|
CA367763995 rs1554543223 |
458 | W>R | No |
ClinGen gnomAD |
|
|
rs1554543222 CA367763981 |
459 | H>N | No |
ClinGen gnomAD |
|
|
rs1554543222 CA367763979 |
459 | H>Y | No |
ClinGen gnomAD |
|
|
rs376965946 CA367763955 |
460 | E>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA367763948 rs1339386221 |
460 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
rs782578720 CA160051097 |
460 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA4286047 rs376965946 |
460 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376965946 CA4286046 |
460 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1230881206 CA367763936 |
461 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA367763924 rs1554543212 |
462 | G>S | No |
ClinGen gnomAD |
|
|
rs1554543211 CA367763909 |
463 | S>G | No |
ClinGen gnomAD |
|
|
rs1289837189 CA367763886 |
464 | N>K | No |
ClinGen TOPMed |
|
|
CA367763876 COSM3698527 rs1228232185 COSM3698526 |
465 | S>L | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs1228232185 CA367763874 |
465 | S>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1554543205 CA367763864 |
466 | L>P | No |
ClinGen gnomAD |
|
|
rs531039156 CA160051086 |
467 | P>S | No |
ClinGen 1000Genomes gnomAD |
|
| TCGA novel | 468 | M>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1484550656 CA367763817 |
469 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA367763779 rs1201508368 |
471 | P>S | No |
ClinGen TOPMed |
|
|
CA367763731 rs1554543196 |
472 | P>L | No |
ClinGen gnomAD |
|
|
rs1184355389 CA367763663 |
475 | G>R | No |
ClinGen TOPMed |
|
|
rs1554543186 CA367763596 |
477 | G>V | No |
ClinGen gnomAD |
|
|
CA4286042 rs782659226 |
478 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367763587 rs1472384124 |
478 | P>S | No |
ClinGen TOPMed |
|
|
rs1361823650 CA367763568 |
479 | L>P | No |
ClinGen TOPMed |
|
|
CA367763528 rs1401324511 |
481 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
CA367763543 rs1554543179 |
481 | P>S | No |
ClinGen gnomAD |
|
|
CA367763511 rs1554543175 |
482 | E>D | No |
ClinGen gnomAD |
|
|
CA4286040 rs781831299 |
482 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1350803877 CA367763484 |
483 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1554543171 CA367763471 |
484 | P>R | No |
ClinGen gnomAD |
|
|
CA367763408 rs1554543166 |
488 | L>Q | No |
ClinGen gnomAD |
No associated diseases with Q86XT4
11 regional properties for Q86XT4
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | B-box-type zinc finger | 84 - 125 | IPR000315 |
| domain | Zinc finger, RING-type | 16 - 57 | IPR001841 |
| domain | B30.2/SPRY domain | 276 - 475 | IPR001870 |
| domain | SPRY domain | 346 - 474 | IPR003877 |
| domain | Butyrophylin-like, SPRY domain | 292 - 309 | IPR003879-1 |
| domain | Butyrophylin-like, SPRY domain | 331 - 355 | IPR003879-2 |
| domain | Butyrophylin-like, SPRY domain | 361 - 374 | IPR003879-3 |
| domain | Butyrophylin-like, SPRY domain | 405 - 429 | IPR003879-4 |
| domain | SPRY-associated | 293 - 345 | IPR006574 |
| conserved_site | Zinc finger, RING-type, conserved site | 31 - 40 | IPR017907 |
| domain | Zinc finger, RING-type, eukaryotic | 16 - 54 | IPR027370 |
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 | |
2 GO annotations of cellular component
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| identical protein binding | Binding to an identical protein or proteins. |
| ubiquitin protein ligase activity | Catalysis of the transfer of ubiquitin to a substrate protein via the reaction X-ubiquitin + S -> X + S-ubiquitin, where X is either an E2 or E3 enzyme, the X-ubiquitin linkage is a thioester bond, and the S-ubiquitin linkage is an amide bond: an isopeptide bond between the C-terminal glycine of ubiquitin and the epsilon-amino group of lysine residues in the substrate or, in the linear extension of ubiquitin chains, a peptide bond the between the C-terminal glycine and N-terminal methionine of ubiquitin residues. |
| zinc ion binding | Binding to a zinc ion (Zn). |
1 GO annotations of biological process
| Name | Definition |
|---|---|
| protein ubiquitination | The process in which one or more ubiquitin groups are added to a protein. |
49 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q5E9G4 | TRIM10 | Tripartite motif-containing protein 10 | Bos taurus (Bovine) | PR |
| Q2T9Z0 | TRIM17 | E3 ubiquitin-protein ligase TRIM17 | Bos taurus (Bovine) | PR |
| E1BJS7 | TRIM71 | E3 ubiquitin-protein ligase TRIM71 | Bos taurus (Bovine) | PR |
| Q7YRV4 | TRIM21 | E3 ubiquitin-protein ligase TRIM21 | Bos taurus (Bovine) | PR |
| Q1PRL4 | TRIM71 | E3 ubiquitin-protein ligase TRIM71 | Gallus gallus (Chicken) | PR |
| Q7YR32 | TRIM10 | Tripartite motif-containing protein 10 | Pan troglodytes (Chimpanzee) | PR |
| Q9BTV5 | FSD1 | Fibronectin type III and SPRY domain-containing protein 1 | Homo sapiens (Human) | PR |
| Q9UJV3 | MID2 | Probable E3 ubiquitin-protein ligase MID2 | Homo sapiens (Human) | PR |
| P29590 | PML | Protein PML | Homo sapiens (Human) | PR |
| Q9NQ86 | TRIM36 | E3 ubiquitin-protein ligase TRIM36 | Homo sapiens (Human) | PR |
| Q86UV6 | TRIM74 | Tripartite motif-containing protein 74 | Homo sapiens (Human) | PR |
| Q2Q1W2 | TRIM71 | E3 ubiquitin-protein ligase TRIM71 | Homo sapiens (Human) | PR |
| Q9BXM9 | FSD1L | FSD1-like protein | Homo sapiens (Human) | PR |
| Q5EBN2 | TRIM61 | Putative tripartite motif-containing protein 61 | Homo sapiens (Human) | PR |
| Q86UV7 | TRIM73 | Tripartite motif-containing protein 73 | Homo sapiens (Human) | PR |
| Q8N9V2 | TRIML1 | Probable E3 ubiquitin-protein ligase TRIML1 | Homo sapiens (Human) | PR |
| Q9BZY9 | TRIM31 | E3 ubiquitin-protein ligase TRIM31 | Homo sapiens (Human) | PR |
| Q9H2S5 | RNF39 | RING finger protein 39 | Homo sapiens (Human) | PR |
| Q6ZMU5 | TRIM72 | Tripartite motif-containing protein 72 | Homo sapiens (Human) | PR |
| Q9UPQ4 | TRIM35 | E3 ubiquitin-protein ligase TRIM35 | Homo sapiens (Human) | PR |
| Q9C029 | TRIM7 | E3 ubiquitin-protein ligase TRIM7 | Homo sapiens (Human) | PR |
| O15553 | MEFV | Pyrin | Homo sapiens (Human) | SS |
| A6NCK2 | TRIM43B | Tripartite motif-containing protein 43B | Homo sapiens (Human) | PR |
| P19474 | TRIM21 | E3 ubiquitin-protein ligase TRIM21 | Homo sapiens (Human) | PR |
| Q14142 | TRIM14 | Tripartite motif-containing protein 14 | Homo sapiens (Human) | PR |
| A6NK02 | TRIM75 | Tripartite motif-containing protein 75 | Homo sapiens (Human) | PR |
| Q9WUH5 | Trim10 | Tripartite motif-containing protein 10 | Mus musculus (Mouse) | PR |
| Q8BZT2 | Sh3rf2 | E3 ubiquitin-protein ligase SH3RF2 | Mus musculus (Mouse) | PR |
| Q7TPM3 | Trim17 | E3 ubiquitin-protein ligase TRIM17 | Mus musculus (Mouse) | PR |
| Q1XH17 | Trim72 | Tripartite motif-containing protein 72 | Mus musculus (Mouse) | PR |
| Q60953 | Pml | Protein PML | Mus musculus (Mouse) | PR |
| Q9JJ26 | Mefv | Pyrin | Mus musculus (Mouse) | SS |
| Q99PQ1 | Trim12a | Tripartite motif-containing protein 12A | Mus musculus (Mouse) | PR |
| Q61510 | Trim25 | E3 ubiquitin/ISG15 ligase TRIM25 | Mus musculus (Mouse) | PR |
| Q1PSW8 | Trim71 | E3 ubiquitin-protein ligase TRIM71 | Mus musculus (Mouse) | PR |
| Q3TL54 | Trim43a | Tripartite motif-containing protein 43A | Mus musculus (Mouse) | PR |
| P86449 | Trim43c | Tripartite motif-containing protein 43C | Mus musculus (Mouse) | PR |
| Q810I2 | Trim50 | E3 ubiquitin-protein ligase TRIM50 | Mus musculus (Mouse) | PR |
| O77666 | TRIM26 | Tripartite motif-containing protein 26 | Sus scrofa (Pig) | PR |
| O19085 | TRIM10 | Tripartite motif-containing protein 10 | Sus scrofa (Pig) | PR |
| Q865W2 | TRIM50 | E3 ubiquitin-protein ligase TRIM50 | Sus scrofa (Pig) | PR |
| Q920M2 | Rnf39 | RING finger protein 39 | Rattus norvegicus (Rat) | PR |
| Q9JJ25 | Mefv | Pyrin | Rattus norvegicus (Rat) | SS |
| A0JPQ4 | Trim72 | Tripartite motif-containing protein 72 | Rattus norvegicus (Rat) | PR |
| D3ZVM4 | Trim71 | E3 ubiquitin-protein ligase TRIM71 | Rattus norvegicus (Rat) | PR |
| Q810I1 | Trim50 | E3 ubiquitin-protein ligase TRIM50 | Rattus norvegicus (Rat) | PR |
| F6QEU4 | trim71 | E3 ubiquitin-protein ligase TRIM71 | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | PR |
| Q640S6 | trim72 | Tripartite motif-containing protein 72 | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | PR |
| E7FAM5 | trim71 | E3 ubiquitin-protein ligase TRIM71 | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAWQVSLPEL | EDRLQCPICL | EVFKEPLMLQ | CGHSYCKGCL | VSLSCHLDAE | LRCPVCRQAV |
| 70 | 80 | 90 | 100 | 110 | 120 |
| DGSSSLPNVS | LARVIEALRL | PGDPEPKVCV | HHRNPLSLFC | EKDQELICGL | CGLLGSHQHH |
| 130 | 140 | 150 | 160 | 170 | 180 |
| PVTPVSTVYS | RMKEELAALI | SELKQEQKKV | DELIAKLVNN | RTRIVNESDV | FSWVIRREFQ |
| 190 | 200 | 210 | 220 | 230 | 240 |
| ELHHLVDEEK | ARCLEGIGGH | TRGLVASLDM | QLEQAQGTRE | RLAQAECVLE | QFGNEDHHKF |
| 250 | 260 | 270 | 280 | 290 | 300 |
| IRKFHSMASR | AEMPQARPLE | GAFSPISFKP | GLHQADIKLT | VWKRLFRKVL | PAPEPLKLDP |
| 310 | 320 | 330 | 340 | 350 | 360 |
| ATAHPLLELS | KGNTVVQCGL | LAQRRASQPE | RFDYSTCVLA | SRGFSCGRHY | WEVVVGSKSD |
| 370 | 380 | 390 | 400 | 410 | 420 |
| WRLGVIKGTA | SRKGKLNRSP | EHGVWLIGLK | EGRVYEAFAC | PRVPLPVAGH | PHRIGLYLHY |
| 430 | 440 | 450 | 460 | 470 | 480 |
| EQGELTFFDA | DRPDDLRPLY | TFQADFQGKL | YPILDTCWHE | RGSNSLPMVL | PPPSGPGPLS |
| PEQPTKL |