Q2Q1W2
PR
Gene name |
TRIM71 |
Protein name |
E3 ubiquitin-protein ligase TRIM71 |
Names |
Protein lin-41 homolog, RING-type E3 ubiquitin transferase TRIM71, Tripartite motif-containing protein 71 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:131405 |
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
2 structures for Q2Q1W2
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 7QRX | X-ray | 220 A | A/B | 590-868 | PDB |
| AF-Q2Q1W2-F1 | Predicted | AlphaFoldDB |
616 variants for Q2Q1W2
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
VAR_083426 RCV000856614 rs1575362216 CA351989735 |
608 | R>H | Hydrocephalus, congenital communicating, 1 HYC4 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000845205 CA351990310 rs1575362239 |
629 | R>H | Congenital hydrocephalus [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
VAR_083427 RCV000856615 rs1575362492 CA351994397 |
796 | R>H | Hydrocephalus, congenital communicating, 1 HYC4 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1045177462 RCV000845204 CA72632793 RCV001809862 |
817 | R>Q | Hydrocephalus, congenital communicating, 1 Congenital hydrocephalus [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs771982591 CA2298538 |
2 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs988271447 CA72633611 |
4 | F>L | No |
ClinGen TOPMed |
|
|
CA2298540 rs746524808 |
5 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746524808 CA72633621 |
5 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2298541 rs371165457 |
6 | E>K | No |
ClinGen ESP ExAC gnomAD |
|
|
rs367928523 CA2298543 |
9 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369607608 CA72633648 CA2298544 |
10 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1395293982 CA351983355 |
10 | Q>R | No |
ClinGen TOPMed |
|
|
CA2298548 rs376420438 |
11 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2298546 rs763615905 |
11 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200479784 CA2298545 |
11 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs756267698 CA2298553 |
17 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA351983410 rs1201960288 |
18 | M>I | No |
ClinGen TOPMed |
|
|
rs538409793 CA2298554 |
18 | M>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs750212860 CA351983414 |
19 | C>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2298555 COSM398230 rs750212860 |
19 | C>S | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA2298557 rs779977577 |
21 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA2298559 rs768240074 |
22 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351983437 rs1310643237 |
23 | A>P | No |
ClinGen TOPMed |
|
|
CA351983441 rs1421958245 |
23 | A>V | No |
ClinGen gnomAD |
|
|
CA2298561 rs747887519 |
24 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351983446 rs747887519 |
24 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769321699 CA2298562 |
26 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773782274 CA2298563 |
27 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs771366596 CA2298565 |
28 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA351983473 rs1227080797 COSM185767 |
29 | S>L | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA351983471 rs1559534372 |
29 | S>P | No |
ClinGen Ensembl |
|
|
CA2298568 rs775021191 |
30 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs767683704 CA2298569 |
30 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA2298567 rs775021191 |
30 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA72633883 rs376749056 |
31 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed gnomAD |
|
CA351983483 rs1284071688 |
31 | A>V | No |
ClinGen gnomAD |
|
|
CA351983489 rs1381566753 |
32 | S>L | No |
ClinGen TOPMed |
|
|
CA2298572 rs764224606 |
33 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs753999741 CA2298575 |
34 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351983501 rs766118018 |
35 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2298578 rs751533091 |
35 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA2298577 rs766118018 |
35 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 37 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754853307 CA2298579 |
37 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs754853307 CA351983510 |
37 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs780815860 CA2298580 |
38 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351983520 rs747610832 |
38 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2298581 rs747610832 |
38 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351983522 rs747610832 |
38 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755587936 CA2298582 |
39 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs890770860 CA72633984 |
40 | T>A | No |
ClinGen TOPMed |
|
|
CA2298584 rs748901412 |
40 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1286436822 CA351983556 |
41 | S>L | No |
ClinGen TOPMed |
|
|
rs771454667 CA2298586 |
42 | S>L | No |
ClinGen ExAC |
|
|
CA2298587 rs774834776 |
43 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA351983577 rs1307496197 |
43 | G>R | No |
ClinGen gnomAD |
|
|
TCGA novel rs1286514723 CA351983607 |
44 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen TOPMed gnomAD NCI-TCGA |
|
CA351983604 rs1286514723 |
44 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA351983599 rs1413171720 |
44 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1209353111 CA351983631 |
46 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA351983637 rs1575336857 |
47 | G>E | No |
ClinGen Ensembl |
|
|
rs1263629737 CA351983636 |
47 | G>W | No |
ClinGen gnomAD |
|
|
rs536140726 CA2298591 |
48 | G>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1470340472 CA351983650 |
49 | P>L | No |
ClinGen gnomAD |
|
|
rs776865784 CA2298593 |
51 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761988281 CA2298594 |
52 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351983693 rs1422447349 |
52 | A>P | No |
ClinGen gnomAD |
|
|
CA351983698 rs1422447349 |
52 | A>T | No |
ClinGen gnomAD |
|
|
CA351983702 rs761988281 |
52 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA2298595 rs766214514 |
53 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA351983704 rs766214514 |
53 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1407527733 CA351983711 |
53 | A>V | No |
ClinGen gnomAD |
|
|
rs1443213679 CA351983778 |
57 | H>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1443213679 CA351983774 |
57 | H>N | No |
ClinGen TOPMed gnomAD |
|
|
CA72634170 CA2298599 rs767363093 |
57 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1242890447 CA351983791 |
57 | H>R | No |
ClinGen TOPMed |
|
|
CA351983786 rs1443213679 |
57 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1257258509 CA351984033 |
64 | A>T | No |
ClinGen gnomAD |
|
|
rs968686067 CA72634204 |
66 | C>G | No |
ClinGen TOPMed |
|
|
CA351984157 rs1270384396 |
67 | R>S | No |
ClinGen TOPMed |
|
| TCGA novel | 69 | C>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 69 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs926880804 CA351984282 |
71 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA72634211 rs926880804 |
71 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1432493760 CA351984340 |
72 | A>P | No |
ClinGen gnomAD |
|
|
CA351984413 rs1199580497 |
73 | H>Q | No |
ClinGen gnomAD |
|
|
CA351984408 rs1328804032 |
73 | H>R | No |
ClinGen TOPMed |
|
|
CA351984437 rs1430773584 |
74 | R>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 74 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA72634233 rs992161563 |
76 | P>R | No |
ClinGen TOPMed |
|
|
rs1410832868 CA351984537 |
77 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
RCV001290746 rs1696081301 |
81 | G>missing | No |
ClinVar dbSNP |
|
|
RCV001290747 CA351984711 rs1284064696 |
83 | A>V | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA351984740 rs1347462029 |
84 | G>V | No |
ClinGen gnomAD |
|
|
rs1277418857 CA351984787 |
85 | E>D | No |
ClinGen gnomAD |
|
|
rs1477089546 CA351984809 |
86 | P>L | No |
ClinGen TOPMed |
|
|
rs1477089546 CA351984805 |
86 | P>R | No |
ClinGen TOPMed |
|
|
rs1339852265 CA351984798 |
86 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1216062929 CA351984822 |
87 | L>V | No |
ClinGen gnomAD |
|
|
rs1256694021 CA351984898 |
88 | K>N | No |
ClinGen TOPMed |
|
|
rs919801830 CA72634256 |
90 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA351984992 rs1372968574 |
92 | P>A | No |
ClinGen gnomAD |
|
|
rs1170054358 CA351985003 |
93 | V>M | No |
ClinGen gnomAD |
|
|
CA351985099 rs1473204251 |
95 | D>A | No |
ClinGen gnomAD |
|
|
CA2298610 rs776666701 |
95 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351985142 rs1376118254 |
97 | K>E | No |
ClinGen TOPMed |
|
|
rs1424334777 CA351985176 |
98 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA351985200 rs1303914593 |
99 | V>M | No |
ClinGen gnomAD |
|
|
CA351985232 rs1413048541 |
100 | L>Q | No |
ClinGen TOPMed |
|
|
CA72634276 rs891041279 |
100 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs765444471 CA2298612 |
102 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA351985337 rs1236920643 |
103 | A>P | No |
ClinGen TOPMed |
|
|
CA72634330 rs891545037 |
104 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA351985372 rs891545037 |
104 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1282282275 CA351985462 |
107 | D>E | No |
ClinGen gnomAD |
|
|
CA72634332 rs867944602 |
108 | A>E | No |
ClinGen Ensembl |
|
|
rs1208438359 CA351985512 |
109 | L>P | No |
ClinGen TOPMed |
|
|
rs1022872338 CA72634342 |
109 | L>V | No |
ClinGen TOPMed |
|
|
rs1002801921 CA72634351 |
112 | S>T | No |
ClinGen TOPMed |
|
|
CA351985717 rs1352270912 |
114 | F>C | No |
ClinGen TOPMed |
|
|
CA351985731 rs1350905241 |
114 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA351985751 rs1261788522 |
115 | L>P | No |
ClinGen gnomAD |
|
|
rs1033894972 CA351985777 |
116 | L>F | No |
ClinGen TOPMed |
|
|
CA72634366 rs1033894972 |
116 | L>V | No |
ClinGen TOPMed |
|
|
CA2298614 rs759265447 |
117 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs960954135 CA72634407 |
117 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1331861525 CA351985883 |
119 | L>P | No |
ClinGen gnomAD |
|
|
CA351985935 rs1378497364 |
122 | A>T | No |
ClinGen TOPMed |
|
|
rs1696084349 RCV001290748 |
123 | V>A | No |
ClinVar dbSNP |
|
|
CA351985998 rs1387266068 |
124 | V>A | No |
ClinGen gnomAD |
|
|
rs868245030 CA351986001 |
125 | A>S | No |
ClinGen gnomAD |
|
|
rs868245030 CA72634426 |
125 | A>T | No |
ClinGen gnomAD |
|
|
CA2298616 rs752609896 |
125 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763746788 CA2298618 |
126 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA351986083 rs1381799195 |
128 | D>Y | No |
ClinGen gnomAD |
|
|
rs753393743 CA2298619 |
129 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA351986162 rs1374260030 |
130 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs756759285 CA2298620 |
133 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA351986249 rs1237860884 |
133 | K>Q | No |
ClinGen gnomAD |
|
|
CA72634482 rs974159722 |
136 | R>H | No |
ClinGen TOPMed |
|
|
rs1180516979 CA351986348 |
137 | A>S | No |
ClinGen TOPMed |
|
|
rs1277060682 CA351986376 |
138 | G>D | No |
ClinGen gnomAD |
|
|
CA2298621 rs778719542 |
139 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1239376404 CA351986434 |
140 | P>L | No |
ClinGen gnomAD |
|
|
rs772413434 CA72634513 |
140 | P>S | No |
ClinGen gnomAD |
|
|
CA351986465 rs1217294927 |
141 | A>G | No |
ClinGen TOPMed |
|
|
rs1050034925 CA72634542 |
143 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA2298623 rs758717551 |
144 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA72634575 rs912472522 |
145 | G>S | No |
ClinGen TOPMed |
|
|
rs1052701964 CA72634578 |
146 | H>D | No |
ClinGen TOPMed |
|
|
rs1455368460 CA351986588 |
147 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs780431467 CA2298624 |
149 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1198941407 CA351986687 |
149 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA72634611 rs1011209310 |
150 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA351986699 rs1011209310 |
150 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
CA72634603 rs1011209310 |
150 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA351986718 rs1205582181 |
151 | H>R | No |
ClinGen gnomAD |
|
|
CA72634614 rs1002341005 |
152 | H>P | No |
ClinGen TOPMed gnomAD |
|
|
CA72634617 rs1034296114 CA351986775 |
152 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA351986791 rs960944177 |
153 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1397842416 CA351986785 |
153 | A>P | No |
ClinGen gnomAD |
|
|
CA351986789 rs1397842416 |
153 | A>S | No |
ClinGen gnomAD |
|
|
CA351986780 rs1397842416 |
153 | A>T | No |
ClinGen gnomAD |
|
|
CA72634639 rs960944177 |
153 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1336685310 CA351986889 |
156 | A>V | No |
ClinGen TOPMed |
|
|
CA351986974 rs1230382089 |
158 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1013866815 CA72634660 |
159 | R>C | No |
ClinGen TOPMed |
|
|
CA72634672 rs1015869375 |
160 | A>T | No |
ClinGen TOPMed |
|
|
rs9809625 CA72634687 |
161 | S>T | No |
ClinGen Ensembl |
|
|
CA351987069 rs961347389 |
162 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA72634699 rs961347389 |
162 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA72634727 rs919990262 |
163 | S>C | No |
ClinGen TOPMed |
|
|
CA72634703 rs919990262 |
163 | S>F | No |
ClinGen TOPMed |
|
|
CA351987140 rs1172033026 |
165 | P>L | No |
ClinGen TOPMed |
|
|
CA351987171 rs1401116525 |
166 | P>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA72634735 rs943945378 |
166 | P>S | No |
ClinGen TOPMed |
|
|
rs988660063 CA72634739 |
170 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1265395809 CA351987281 |
171 | P>L | No |
ClinGen gnomAD |
|
|
rs1197806935 CA351987275 |
171 | P>S | No |
ClinGen TOPMed |
|
|
rs1195470318 CA351987293 |
172 | Q>R | No |
ClinGen gnomAD |
|
|
CA72634748 rs913169687 |
173 | P>Q | No |
ClinGen TOPMed |
|
|
CA351987342 rs1559534739 |
174 | P>A | No |
ClinGen Ensembl |
|
|
CA351987379 rs1251465508 |
175 | A>T | No |
ClinGen gnomAD |
|
|
rs1196910744 CA351987482 |
177 | S>Y | No |
ClinGen gnomAD |
|
|
rs1428669687 CA351987517 |
178 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA351987526 rs1428669687 |
178 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1445066115 CA351987579 |
181 | P>A | No |
ClinGen TOPMed |
|
|
rs1559534755 COSM1617486 CA351987605 |
181 | P>H | liver [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA351987583 rs1445066115 |
181 | P>S | No |
ClinGen TOPMed |
|
|
rs1376708106 CA351987618 |
182 | G>D | No |
ClinGen TOPMed |
|
| TCGA novel | 183 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV001290749 rs781320370 CA2298628 |
185 | A>S | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs1298420890 CA351987697 |
186 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA351987710 rs1398228479 |
186 | A>V | No |
ClinGen gnomAD |
|
|
rs773330912 CA2298631 |
188 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773330912 CA72634819 |
188 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351987857 rs1224678851 |
190 | A>V | No |
ClinGen gnomAD |
|
|
CA2298636 rs764131585 |
193 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1268274212 CA351988027 |
194 | R>C | No |
ClinGen gnomAD |
|
|
rs1268274212 CA351988021 |
194 | R>S | No |
ClinGen gnomAD |
|
|
rs761428558 CA2298638 |
195 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs761428558 CA351988063 |
195 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs764760780 CA2298639 |
196 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1201529902 CA351988083 |
196 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA2298641 rs758043344 |
197 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2298640 rs750081397 |
197 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA2298643 rs751952801 |
198 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780336942 CA2298642 |
198 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA351988174 rs1256176858 |
200 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
CA2298647 rs769893764 |
202 | C>W | No |
ClinGen ExAC |
|
|
rs1360549549 CA351988278 |
203 | D>E | No |
ClinGen gnomAD |
|
|
rs777880022 CA2298648 |
203 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1296828427 CA351988352 |
205 | G>D | No |
ClinGen gnomAD |
|
|
rs1015817034 CA72634986 |
207 | A>T | No |
ClinGen TOPMed |
|
|
rs1436050046 CA351988419 |
208 | A>G | No |
ClinGen TOPMed |
|
|
rs1436050046 CA351988420 |
208 | A>V | No |
ClinGen TOPMed |
|
|
rs774369384 CA2298651 |
210 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs1224865354 CA351988482 |
211 | R>C | No |
ClinGen gnomAD |
|
|
CA2298653 rs768521030 |
212 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA351988536 rs545795144 |
213 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1182317622 CA351988540 |
213 | L>P | No |
ClinGen TOPMed |
|
|
CA2298654 rs545795144 |
213 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA351988548 rs1162575322 |
214 | D>N | No |
ClinGen gnomAD |
|
|
rs761808230 CA2298655 |
216 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351988660 rs1575337345 |
217 | E>G | No |
ClinGen Ensembl |
|
|
CA351988641 rs1156369227 |
217 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA351988787 rs1353514910 |
219 | L>R | No |
ClinGen TOPMed |
|
|
rs751157005 CA2298660 |
221 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1329190210 CA351988893 |
221 | D>N | No |
ClinGen Ensembl |
|
|
rs1450859347 CA351988968 |
222 | N>K | No |
ClinGen gnomAD |
|
|
rs767830539 CA2298662 |
225 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs767830539 CA2298663 |
225 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs756622870 CA2298664 |
225 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs1282325140 CA351989083 |
226 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1282325140 CA351989111 |
226 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA351989165 rs1262383014 |
227 | H>L | No |
ClinGen gnomAD |
|
|
CA2298666 rs749389880 |
227 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA72635135 rs748286589 |
228 | Q>E | No |
ClinGen Ensembl |
|
|
CA351989215 rs1182810255 |
228 | Q>H | No |
ClinGen gnomAD |
|
|
rs757226100 CA2298667 |
229 | R>G | No |
ClinGen ExAC TOPMed |
|
|
CA72635170 rs965159551 |
229 | R>L | No |
ClinGen TOPMed |
|
|
rs1243515999 CA351989252 |
230 | V>L | No |
ClinGen gnomAD |
|
|
rs1398431959 CA351989315 |
232 | L>V | No |
ClinGen TOPMed |
|
|
CA351989478 rs1406624949 |
235 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA351989485 rs1406624949 |
235 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
rs768608891 CA2298670 |
236 | H>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 236 | H>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1391519248 CA351989597 |
237 | Y>C | No |
ClinGen gnomAD |
|
|
rs1559534856 CA351989629 |
238 | I>V | No |
ClinGen Ensembl |
|
|
CA351989695 rs769761918 |
239 | E>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 240 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA351989742 rs1277956471 |
241 | G>D | No |
ClinGen gnomAD |
|
|
CA351989730 rs1454796809 |
241 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1372742263 CA351989767 |
242 | P>L | No |
ClinGen gnomAD |
|
|
rs1475694907 CA351989763 |
242 | P>S | No |
ClinGen TOPMed |
|
|
CA351989797 rs1191653887 |
243 | P>L | No |
ClinGen TOPMed |
|
|
rs765760961 CA2298676 |
243 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351989827 rs900192116 |
244 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA2298677 rs774026642 |
244 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs900192116 CA72635267 |
244 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA2298678 rs759159453 |
245 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1202030458 CA351989939 |
246 | G>D | No |
ClinGen gnomAD |
|
|
CA351990032 rs1354845910 |
248 | A>T | No |
ClinGen TOPMed |
|
|
CA2298680 rs753046647 |
249 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2298681 rs753046647 |
249 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351990183 rs1479779365 |
250 | A>V | No |
ClinGen gnomAD |
|
|
rs754250289 CA2298683 |
252 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
rs1430460499 CA351990274 COSM380549 |
253 | Q>H | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs757388719 CA2298685 |
253 | Q>R | No |
ClinGen ExAC |
|
|
rs1354220201 CA351990332 |
255 | G>V | No |
ClinGen gnomAD |
|
|
rs1327238554 CA351990317 |
255 | G>W | No |
ClinGen gnomAD |
|
|
CA351990347 rs1428076669 |
256 | L>H | No |
ClinGen TOPMed |
|
|
CA351990350 rs1428076669 |
256 | L>R | No |
ClinGen TOPMed |
|
|
rs1225570514 CA351990439 |
258 | P>L | No |
ClinGen gnomAD |
|
|
rs746139247 CA2298687 |
259 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1325460604 CA351990462 |
260 | F>S | No |
ClinGen gnomAD |
|
|
rs1283790803 CA351990460 |
260 | F>V | No |
ClinGen gnomAD |
|
|
rs747983779 CA2298690 |
261 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769421964 RCV001290750 CA2298691 |
262 | G>A | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs1317345918 CA351990550 |
262 | G>S | No |
ClinGen gnomAD |
|
|
CA72635417 rs971623151 |
263 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA351990583 rs971623151 |
263 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs576143107 CA2298694 |
264 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs749142984 CA2298693 |
264 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs773830851 CA2298696 |
266 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351990814 rs1170657715 |
268 | L>F | No |
ClinGen gnomAD |
|
|
rs1363812189 RCV001290751 |
268 | L>H | No |
ClinVar dbSNP |
|
|
CA351990822 rs1363812189 |
268 | L>P | No |
ClinGen gnomAD |
|
|
CA72635454 rs868131862 |
269 | S>* | No |
ClinGen Ensembl |
|
|
CA2298697 rs759245157 |
270 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs1270030409 CA351990915 |
271 | F>L | No |
ClinGen gnomAD |
|
|
rs895574147 CA72635490 |
271 | F>V | No |
ClinGen TOPMed gnomAD |
|
|
CA351990919 rs1317634845 |
272 | P>S | No |
ClinGen TOPMed |
|
|
rs184187287 CA2298699 |
275 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs761124072 CA351991038 |
277 | F>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2298700 rs761124072 |
277 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1215973067 CA351991044 CA351991043 |
277 | F>L | No |
ClinGen gnomAD |
|
|
CA351991087 rs1575337531 |
279 | Q>P | No |
ClinGen Ensembl |
|
|
CA351991157 rs1289092861 |
281 | H>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1289092861 CA351991164 |
281 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs764324502 CA2298701 |
282 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA351991219 rs1341019201 |
282 | D>G | No |
ClinGen TOPMed |
|
|
CA351991253 rs1270333077 |
283 | D>G | No |
ClinGen TOPMed |
|
|
CA351991322 rs1260653987 |
284 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs920179689 CA72635533 |
284 | E>K | No |
ClinGen gnomAD |
|
|
CA351982551 rs1452934173 |
286 | L>M | No |
ClinGen gnomAD |
|
|
CA351982558 rs1293541131 |
287 | H>D | No |
ClinGen TOPMed |
|
|
rs530720674 CA2298729 |
297 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1261661672 CA351982639 |
299 | R>C | No |
ClinGen gnomAD |
|
|
rs899879476 CA72619499 |
299 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs899879476 CA351982643 |
299 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA351982648 rs1258480513 |
300 | E>G | No |
ClinGen gnomAD |
|
|
rs1181259307 CA351982662 |
302 | T>P | No |
ClinGen gnomAD |
|
|
CA2298732 rs372703916 |
303 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA351982677 rs1458360043 |
304 | G>D | No |
ClinGen TOPMed |
|
|
rs771610495 CA2298734 |
305 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774049371 CA2298733 |
305 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs868533477 CA351982700 |
308 | G>A | No |
ClinGen gnomAD |
|
|
CA72619560 rs868533477 |
308 | G>D | No |
ClinGen gnomAD |
|
|
rs377498310 CA2298736 |
311 | F>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs768185295 CA2298737 |
312 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA72619580 rs768185295 |
312 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs375591431 CA2298741 |
320 | D>V | No |
ClinGen ESP ExAC gnomAD |
|
|
COSM1043669 CA2298742 rs755247607 |
322 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1269913539 CA351982793 |
322 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1250190378 CA351982825 |
327 | Q>P | No |
ClinGen TOPMed |
|
|
CA2298744 rs774281761 |
330 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2298748 rs781070829 |
336 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764984257 CA2298749 |
337 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs971094853 CA351982898 |
339 | I>L | No |
ClinGen TOPMed |
|
|
CA72619683 rs971094853 |
339 | I>V | No |
ClinGen TOPMed |
|
| TCGA novel | 340 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA72628679 rs1038669766 |
343 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
rs368762602 CA2298779 |
343 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA351983001 rs1038669766 |
343 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs776450880 CA2298780 COSM1230415 |
344 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs778349729 CA2298781 |
348 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs771272076 CA2298783 |
350 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2298785 rs375108360 |
351 | E>K | No |
ClinGen ESP ExAC gnomAD |
|
|
CA72628724 rs1014001184 |
352 | Q>H | No |
ClinGen Ensembl |
|
|
rs1186116317 CA351983070 |
354 | E>K | No |
ClinGen TOPMed |
|
|
rs536248483 RCV001290752 CA2298786 COSM1422414 |
357 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA351983105 rs1308908268 |
358 | K>M | No |
ClinGen gnomAD |
|
|
rs1575360389 CA351983111 |
359 | V>G | No |
ClinGen Ensembl |
|
|
CA72628749 rs760954009 |
359 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760954009 CA2298788 |
359 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768867028 CA2298789 |
362 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351983143 rs1575360401 |
364 | V>G | No |
ClinGen Ensembl |
|
|
rs1575360405 CA351983146 |
365 | K>E | No |
ClinGen Ensembl |
|
|
CA72628770 rs948426584 |
365 | K>N | No |
ClinGen TOPMed |
|
|
rs766160389 CA2298792 |
367 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759499819 CA2298794 |
369 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA72628799 rs752251831 |
370 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs372719076 CA72628812 |
373 | K>Q | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs755619287 CA2298797 |
374 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1166656404 CA351983244 |
380 | C>S | No |
ClinGen TOPMed |
|
|
rs895048757 CA351983975 |
388 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA351984045 rs1313653954 |
390 | R>C | No |
ClinGen gnomAD |
|
|
rs763658967 CA2298818 |
390 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA351984285 rs1183575140 |
396 | S>P | No |
ClinGen gnomAD |
|
| TCGA novel | 399 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1392709992 CA351984488 |
401 | V>E | No |
ClinGen TOPMed |
|
|
rs780556834 CA2298824 |
405 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2298823 rs758629556 |
405 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA72631794 rs889283182 |
408 | L>F | No |
ClinGen Ensembl |
|
| TCGA novel | 408 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 409 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1343628957 CA351984849 |
410 | K>N | No |
ClinGen gnomAD |
|
|
CA2298826 rs755093028 |
410 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA351984918 rs1559552077 |
413 | S>G | No |
ClinGen Ensembl |
|
|
rs781229786 CA2298827 |
414 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1369387315 CA351985029 |
417 | A>D | No |
ClinGen gnomAD |
|
|
COSM1422415 rs1575361892 CA351985050 |
418 | V>M | large_intestine [Cosmic] | No |
ClinGen cosmic curated Ensembl |
| TCGA novel | 423 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1206741682 CA351985191 |
424 | E>D | No |
ClinGen gnomAD |
|
|
rs773240896 CA2298831 |
425 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM376794 rs1250907572 CA351985230 |
426 | R>K | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA351985260 rs771945405 |
427 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2298833 COSM3702411 rs771945405 |
427 | A>V | Variant assessed as Somatic; 0.0 impact. liver [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1022031446 CA72631829 |
431 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs765645353 CA2298835 |
433 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763753106 CA2298836 |
434 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA2298838 rs374391853 |
436 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA351985489 COSM1165152 rs199577539 |
436 | R>W | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs1170640312 CA351985514 |
438 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA351985760 rs1575361954 |
447 | V>G | No |
ClinGen Ensembl |
|
|
CA2298844 rs192447957 |
447 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs748268178 CA2298846 |
448 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781320381 CA2298845 |
448 | R>W | Variant assessed as Somatic; 9.282e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs756090372 CA2298847 |
449 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1355170114 CA351985869 |
450 | L>F | No |
ClinGen TOPMed |
|
|
rs772035115 CA2298850 |
457 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA351986053 rs1209802658 |
457 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs761489899 CA72631953 |
458 | R>G | No |
ClinGen Ensembl |
|
|
rs370585787 CA2298851 |
458 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs969660574 CA72631987 |
462 | T>I | No |
ClinGen TOPMed |
|
|
CA351986182 rs1247796732 |
462 | T>S | No |
ClinGen gnomAD |
|
| TCGA novel | 465 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs776373796 CA2298854 |
465 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA2298855 rs761404366 |
466 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs150682719 CA72632016 |
467 | A>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2298857 rs150682719 |
467 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2298860 rs751921502 |
470 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs975160648 CA351986407 |
472 | I>L | No |
ClinGen TOPMed |
|
|
rs1422799818 CA351986416 |
472 | I>N | No |
ClinGen gnomAD |
|
|
CA72632039 rs975160648 |
472 | I>V | No |
ClinGen TOPMed |
|
|
CA72632040 rs570425653 |
474 | S>A | No |
ClinGen 1000Genomes |
|
|
CA2298861 rs755272906 |
475 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1177490902 CA351986552 |
478 | V>I | No |
ClinGen gnomAD |
|
|
rs756250828 CA2298864 |
481 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1575362037 CA351986648 |
482 | A>S | No |
ClinGen Ensembl |
|
|
CA351986675 rs1393637600 |
483 | F>S | No |
ClinGen TOPMed |
|
|
rs757547730 CA2298867 |
485 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA72632058 rs923271216 |
486 | L>V | No |
ClinGen Ensembl |
|
|
CA2298869 rs202063780 |
488 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA351986787 rs1355577793 |
489 | A>V | No |
ClinGen gnomAD |
|
|
CA351986795 rs1334565887 |
490 | T>A | No |
ClinGen Ensembl |
|
|
COSM583472 rs1241571467 CA351986827 |
492 | D>N | lung large_intestine Variant assessed as Somatic; 4.64e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA351986901 rs1313681631 |
495 | K>M | No |
ClinGen TOPMed |
|
|
rs372088601 CA2298871 RCV001290753 |
496 | R>C | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs372088601 CA2298873 |
496 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs185519071 COSM1230411 CA2298874 |
496 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs372088601 CA2298872 |
496 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2298875 rs762664391 |
497 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs555764673 CA2298876 |
499 | Q>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs947567161 CA72632110 |
499 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA2298877 rs773939320 |
500 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA351987241 rs1333421359 |
509 | G>A | No |
ClinGen gnomAD |
|
|
CA351987245 rs1333421359 |
509 | G>V | No |
ClinGen gnomAD |
|
|
rs1575362075 CA351987315 |
511 | D>A | No |
ClinGen Ensembl |
|
|
rs753289169 CA2298880 COSM350862 |
513 | D>N | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA351987387 rs1283603355 |
515 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA351987391 rs1259061044 |
516 | P>A | No |
ClinGen TOPMed |
|
|
RCV001290754 CA2298882 rs558049901 |
517 | R>C | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs1344660538 CA351987410 |
517 | R>H | No |
ClinGen gnomAD |
|
|
rs753970343 CA2298883 |
518 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA72632181 rs1052094846 |
522 | D>N | No |
ClinGen Ensembl |
|
|
CA351987537 rs375901232 |
523 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA72632183 rs375901232 |
523 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA351987576 rs1559552206 |
524 | M>I | No |
ClinGen Ensembl |
|
|
CA2298886 rs750630215 |
525 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA351987654 rs748172146 |
529 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA2298889 rs748172146 |
529 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs748814316 CA2298892 |
533 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2298894 rs774024489 |
534 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1308085075 CA351987765 |
534 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1308085075 CA351987762 |
534 | N>T | No |
ClinGen TOPMed gnomAD |
|
|
RCV001290755 rs1697016744 |
538 | A>G | No |
ClinVar dbSNP |
|
|
CA351987846 rs1357425742 |
538 | A>T | No |
ClinGen TOPMed |
|
|
CA351987916 rs1575362128 |
540 | V>G | No |
ClinGen Ensembl |
|
|
rs1234283216 CA351987905 |
540 | V>L | No |
ClinGen gnomAD |
|
|
CA351987971 rs1340274731 |
543 | Q>K | No |
ClinGen gnomAD |
|
|
CA351988044 rs1275443190 |
547 | T>A | No |
ClinGen gnomAD |
|
|
CA2298898 rs572598561 |
549 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs200204603 CA2298899 |
553 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA72632239 rs200204603 |
553 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1371029298 CA351988377 |
562 | V>L | No |
ClinGen gnomAD |
|
|
rs1168752970 CA351988391 |
563 | S>A | No |
ClinGen TOPMed gnomAD |
|
|
CA351988405 rs1371796784 |
564 | V>M | No |
ClinGen gnomAD |
|
|
rs765372506 CA2298902 |
566 | L>V | No |
ClinGen ExAC |
|
|
rs758533893 CA2298904 |
567 | C>G | No |
ClinGen ExAC gnomAD |
|
|
rs1167369907 CA351988519 |
568 | N>S | No |
ClinGen gnomAD |
|
|
CA2298905 rs767415768 |
572 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1559552260 CA351988847 |
579 | V>G | No |
ClinGen Ensembl |
|
|
CA351988959 rs1298443612 |
584 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1207223298 CA351988974 |
585 | S>G | No |
ClinGen TOPMed |
|
|
rs755884867 CA2298907 |
586 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA2298909 rs201210605 |
587 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1559552272 CA351989115 |
589 | I>T | No |
ClinGen Ensembl |
|
|
CA2298910 rs756801325 |
590 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA351989176 rs1245958336 |
592 | P>L | No |
ClinGen gnomAD |
|
|
rs771625560 CA2298913 |
593 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1324868732 CA351989235 |
595 | S>N | No |
ClinGen TOPMed |
|
|
rs201860756 CA2298915 RCV001290756 |
597 | G>S | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs1368455875 CA351989335 |
598 | S>I | No |
ClinGen TOPMed gnomAD |
|
|
CA351989332 rs1368455875 |
598 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA351989458 rs1459745242 |
601 | D>G | No |
ClinGen TOPMed |
|
|
CA72632352 rs761006407 |
608 | R>C | No |
ClinGen Ensembl |
|
|
CA2298917 rs777314282 |
614 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs372867077 CA72632370 |
620 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
CA351990079 rs372867077 |
620 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA351990165 rs1575362232 |
624 | D>A | No |
ClinGen Ensembl |
|
| TCGA novel | 624 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA351990221 rs1208997935 COSM1043674 |
625 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs751756708 CA2298923 |
628 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1358440086 CA351990433 |
634 | K>Q | No |
ClinGen gnomAD |
|
|
CA351990512 rs1470176806 |
637 | G>S | No |
ClinGen TOPMed |
|
|
rs763782745 CA72632402 |
638 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA351990552 rs763782745 |
638 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA351990610 rs1337505574 |
639 | F>L | No |
ClinGen TOPMed |
|
|
CA351990619 rs1410261234 |
640 | H>Y | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 644 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2298928 rs562098717 |
644 | G>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
COSM1422418 CA2298930 rs200356061 |
649 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA2298929 rs529308890 |
649 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs184923688 CA351990986 |
653 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 654 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA72632437 rs924786320 |
658 | G>S | No |
ClinGen Ensembl |
|
|
rs1328366709 CA351991124 |
660 | A>T | No |
ClinGen gnomAD |
|
|
CA351991210 rs1212387883 |
662 | D>G | No |
ClinGen Ensembl |
|
|
CA351991238 rs1310080218 |
663 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA351991233 rs1310080218 |
663 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA351991239 rs1398576187 |
663 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1208921572 CA351991243 |
664 | S>A | No |
ClinGen gnomAD |
|
|
rs1292700294 CA351991261 |
665 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA2298939 rs771002598 |
665 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs774480490 CA351991297 |
666 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA2298941 rs759785524 |
670 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA351991521 rs1183435271 |
676 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 677 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2298943 rs753628033 |
681 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA351991691 rs1345233826 |
682 | F>Y | No |
ClinGen gnomAD |
|
|
CA72632472 rs866125812 |
683 | E>K | No |
ClinGen Ensembl |
|
| TCGA novel | 695 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs765178533 CA2298945 |
695 | T>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 699 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs373575040 CA2298948 |
701 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA351993287 rs1381902454 |
707 | A>E | No |
ClinGen gnomAD |
|
|
rs77296356 CA72632496 |
708 | V>G | No |
ClinGen Ensembl |
|
|
CA351993349 rs1483016798 |
710 | S>F | No |
ClinGen gnomAD |
|
|
rs780923095 CA2298951 |
711 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA2298952 rs748539240 |
712 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA2298953 rs757904838 |
713 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1348349713 CA351993467 |
718 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs909650325 CA72632575 |
719 | T>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA2298955 rs749775221 |
719 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA351993539 rs1285270170 |
722 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA72632603 rs139701395 |
728 | G>R | No |
ClinGen 1000Genomes gnomAD |
|
|
rs1275203149 CA351993725 |
730 | D>E | No |
ClinGen gnomAD |
|
|
rs1296239862 CA351993755 |
732 | V>A | No |
ClinGen gnomAD |
|
|
rs200757439 CA2298959 |
732 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 736 | K>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1229825963 CA351993816 |
737 | Y>F | No |
ClinGen gnomAD |
|
|
rs1414862774 CA351993855 |
740 | E>G | No |
ClinGen TOPMed |
|
|
rs373995975 CA2298962 |
740 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA351993865 rs1186022945 |
741 | G>W | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 743 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2298967 rs754481814 |
746 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2298970 rs756587619 |
757 | H>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1404687573 CA351994035 |
757 | H>Q | No |
ClinGen gnomAD |
|
|
rs1052052084 CA72632649 |
760 | H>Q | No |
ClinGen TOPMed |
|
|
rs1223014658 CA351994140 |
768 | N>H | No |
ClinGen TOPMed |
|
|
CA351994157 rs1575362439 |
769 | H>P | No |
ClinGen Ensembl |
|
|
CA351994159 rs1575362439 |
769 | H>R | No |
ClinGen Ensembl |
|
| TCGA novel | 770 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA351994168 rs1396327734 |
770 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1575362446 CA351994187 |
772 | L>P | No |
ClinGen Ensembl |
|
|
CA351994194 rs1354255250 |
773 | V>F | No |
ClinGen TOPMed |
|
|
rs1575362453 CA351994198 |
773 | V>G | No |
ClinGen Ensembl |
|
|
CA351994222 rs1575362456 |
775 | H>P | No |
ClinGen Ensembl |
|
|
CA2298973 CA351994223 rs771468456 |
775 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1290977138 CA351994217 |
775 | H>Y | No |
ClinGen TOPMed |
|
|
rs1359390382 CA351994228 |
776 | P>S | No |
ClinGen TOPMed |
|
|
rs779223962 CA2298974 |
777 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 778 | C>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2298975 rs745966765 |
778 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA351994279 COSM1578574 rs1399350054 |
780 | S>L | meninges [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA351994292 rs1291066250 |
782 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA2298977 rs373870640 COSM3408600 |
782 | R>H | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs747205413 CA2298978 |
783 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA72632699 rs749936473 |
786 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1183676994 CA351994324 |
786 | S>T | No |
ClinGen TOPMed |
|
|
CA2298982 rs201763394 |
791 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA351994369 rs1214760147 |
792 | G>R | No |
ClinGen TOPMed |
|
|
rs774383473 CA2298983 |
793 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1455479185 CA351994396 |
796 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs767106484 CA351994420 |
800 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2298985 rs767106484 |
800 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1331641755 CA351994434 |
802 | V>M | No |
ClinGen gnomAD |
|
|
rs752450266 CA2298986 |
806 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs982336353 CA72632758 COSM247996 |
807 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium prostate [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA72632770 COSM1422421 rs979021897 |
807 | R>H | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA351994496 rs979021897 |
807 | R>L | No |
ClinGen gnomAD |
|
|
CA2298987 rs200410036 |
809 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs764435313 CA2298988 |
810 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA351994534 rs1267891814 |
811 | A>G | No |
ClinGen gnomAD |
|
|
CA72632783 rs200792747 |
813 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
CA2298991 rs558361771 |
816 | H>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA351994594 rs1188294091 |
816 | H>Y | No |
ClinGen gnomAD |
|
|
rs746339153 CA2298992 |
820 | M>I | No |
ClinGen ExAC |
|
|
CA351994636 rs1461319107 |
820 | M>L | No |
ClinGen TOPMed |
|
|
rs758518540 CA2298993 |
823 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780093797 CA2298994 |
824 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351994699 rs1418954308 |
825 | G>S | No |
ClinGen TOPMed |
|
|
CA351994719 rs1455045916 |
827 | F>L | No |
ClinGen gnomAD |
|
|
rs768926616 CA2298996 |
830 | K>M | No |
ClinGen ExAC gnomAD |
|
|
rs1184983321 CA351994770 |
831 | F>V | No |
ClinGen TOPMed |
|
|
rs576743876 CA2298998 |
835 | G>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs758743058 CA72632828 |
836 | S>G | No |
ClinGen Ensembl |
|
|
rs1262570509 CA351994822 |
836 | S>N | No |
ClinGen gnomAD |
|
|
CA351994831 rs759524012 |
837 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2299002 rs767198564 |
837 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA2299001 rs759524012 |
837 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2299003 rs775139511 |
839 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA2299004 rs760040008 |
840 | Q>* | No |
ClinGen ExAC |
|
|
CA351995001 rs1211760937 COSM730317 |
843 | R>C | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1282559681 CA351995052 |
845 | S>A | No |
ClinGen gnomAD |
|
|
COSM446367 rs1206088653 CA351995069 |
846 | G>S | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1249095650 CA351995089 |
847 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
CA2299007 rs757677649 |
848 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA2299008 rs765561185 |
849 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA2299009 rs750982224 |
850 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs750982224 CA351995154 |
850 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs758901789 CA2299010 |
851 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369352612 CA2299013 |
853 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs781509970 CA2299014 |
854 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748289412 CA2299015 |
855 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs1437878457 CA351995295 |
856 | V>A | No |
ClinGen TOPMed |
|
|
rs778838272 CA72632909 |
856 | V>I | No |
ClinGen ExAC TOPMed |
|
|
CA2299017 rs778838272 |
856 | V>L | No |
ClinGen ExAC TOPMed |
|
|
CA2299020 rs775514036 |
857 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA2299019 rs745871220 |
857 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA2299018 rs745871220 |
857 | V>M | No |
ClinGen ExAC gnomAD |
|
|
COSM264198 rs1427987077 CA351995494 |
864 | R>Q | pancreas large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs139644775 CA2299028 |
867 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1207914442 CA351995576 |
868 | F>L | No |
ClinGen TOPMed gnomAD |
1 associated diseases with Q2Q1W2
[MIM: 618667]: Hydrocephalus, congenital communicating, 1 (HYDCC1)
A form of congenital hydrocephalus, a disease characterized by onset in utero of enlarged ventricles due to accumulation of ventricular cerebrospinal fluid. Affected individuals may have neurologic impairment. HYDCC1 inheritance is autosomal dominant. {ECO:0000269|PubMed:29983323}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A form of congenital hydrocephalus, a disease characterized by onset in utero of enlarged ventricles due to accumulation of ventricular cerebrospinal fluid. Affected individuals may have neurologic impairment. HYDCC1 inheritance is autosomal dominant. {ECO:0000269|PubMed:29983323}. Note=The disease is caused by variants affecting the gene represented in this entry.
12 regional properties for Q2Q1W2
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | B-box-type zinc finger | 194 - 243 | IPR000315-1 |
| domain | B-box-type zinc finger | 273 - 314 | IPR000315-2 |
| repeat | NHL repeat | 593 - 636 | IPR001258-1 |
| repeat | NHL repeat | 640 - 683 | IPR001258-2 |
| repeat | NHL repeat | 687 - 730 | IPR001258-3 |
| repeat | NHL repeat | 734 - 777 | IPR001258-4 |
| repeat | NHL repeat | 781 - 824 | IPR001258-5 |
| repeat | NHL repeat | 828 - 868 | IPR001258-6 |
| repeat | Filamin/ABP280 repeat | 483 - 583 | IPR001298 |
| domain | Zinc finger, RING-type | 12 - 95 | IPR001841 |
| repeat | Filamin/ABP280 repeat-like | 479 - 580 | IPR017868 |
| conserved_site | Zinc finger, RING-type, conserved site | 61 - 70 | IPR017907 |
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 | |
1 GO annotations of cellular component
| Name | Definition |
|---|---|
| P-body | A focus in the cytoplasm where mRNAs may become inactivated by decapping or some other mechanism. Protein and RNA localized to these foci are involved in mRNA degradation, nonsense-mediated mRNA decay (NMD), translational repression, and RNA-mediated gene silencing. |
5 GO annotations of molecular function
| Name | Definition |
|---|---|
| miRNA binding | Binding to a microRNA, a 21-23 nucleotide RNA that is processed from a stem-loop RNA precursor (pre-miRNA) that is encoded within plant and animal genomes. |
| translation repressor activity | Antagonizes ribosome-mediated translation of mRNA into a polypeptide. |
| 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. |
| ubiquitin-protein transferase activity | Catalysis of the transfer of ubiquitin from one protein to another via the reaction X-Ub + Y --> Y-Ub + X, where both X-Ub and Y-Ub are covalent linkages. |
| zinc ion binding | Binding to a zinc ion (Zn). |
17 GO annotations of biological process
| Name | Definition |
|---|---|
| 3'-UTR-mediated mRNA destabilization | An mRNA destabilization process in which one or more RNA-binding proteins associate with the 3'-untranslated region (UTR) of an mRNA. |
| fibroblast growth factor receptor signaling pathway | The series of molecular signals generated as a consequence of a fibroblast growth factor receptor binding to one of its physiological ligands. |
| G1/S transition of mitotic cell cycle | The mitotic cell cycle transition by which a cell in G1 commits to S phase. The process begins with the build up of G1 cyclin-dependent kinase (G1 CDK), resulting in the activation of transcription of G1 cyclins. The process ends with the positive feedback of the G1 cyclins on the G1 CDK which commits the cell to S phase, in which DNA replication is initiated. |
| miRNA metabolic process | The chemical reactions and pathways involving miRNA, microRNA, a class of single-stranded RNA molecules of about 21-23 nucleotides in length, which regulates gene expression. |
| miRNA processing | A process leading to the generation of a functional miRNA. Includes the cleavage of stem-loop RNA precursors into microRNAs (miRNAs). miRNAs are a class of small RNAs that primarily silence genes by blocking the translation of mRNA transcripts into protein, or by increasing the degradation of non-protein-coding RNA transcripts. |
| miRNA-mediated gene silencing by inhibition of translation | An RNA interference pathway in which microRNAs (miRNAs) block the translation of target mRNAs into proteins. Once incorporated into a RNA-induced silencing complex (RISC), a miRNA will typically mediate repression of translation if the miRNA imperfectly base-pairs with the 3' untranslated regions of target mRNAs. |
| negative regulation of translation | Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of proteins by the translation of mRNA or circRNA. |
| neural tube closure | The last step in the formation of the neural tube, where the paired neural folds are brought together and fuse at the dorsal midline. |
| neural tube development | The process whose specific outcome is the progression of the neural tube over time, from its formation to the mature structure. The mature structure of the neural tube exists when the tube has been segmented into the forebrain, midbrain, hindbrain and spinal cord regions. In addition neural crest has budded away from the epithelium. |
| positive regulation of miRNA-mediated gene silencing | A process that activates or increases the frequency, rate or extent of gene silencing by a microRNA (miRNA). |
| post-transcriptional regulation of gene expression | Any process that modulates the frequency, rate or extent of gene expression after the production of an RNA transcript. |
| proteasome-mediated ubiquitin-dependent protein catabolic process | The chemical reactions and pathways resulting in the breakdown of a protein or peptide by hydrolysis of its peptide bonds, initiated by the covalent attachment of ubiquitin, and mediated by the proteasome. |
| protein autoubiquitination | The ubiquitination by a protein of one or more of its own amino acid residues, or residues on an identical protein. Ubiquitination occurs on the lysine residue by formation of an isopeptide crosslink. |
| protein polyubiquitination | Addition of multiple ubiquitin groups to a protein, forming a ubiquitin chain. |
| regulation of miRNA-mediated gene silencing | A process that modulates the rate, frequency, or extent of the downregulation of gene expression through the action of microRNAs (miRNAs). |
| regulation of neural precursor cell proliferation | Any process that modulates the frequency, rate or extent of neural precursor cell proliferation. |
| stem cell proliferation | The multiplication or reproduction of stem cells, resulting in the expansion of a stem cell population. A stem cell is a cell that retains the ability to divide and proliferate throughout life to provide progenitor cells that can differentiate into specialized cells. |
46 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 |
| Q7YRV4 | TRIM21 | E3 ubiquitin-protein ligase TRIM21 | Bos taurus (Bovine) | PR |
| E1BJS7 | TRIM71 | E3 ubiquitin-protein ligase TRIM71 | 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 |
| O15553 | MEFV | Pyrin | Homo sapiens (Human) | SS |
| Q9BTV5 | FSD1 | Fibronectin type III and SPRY domain-containing protein 1 | Homo sapiens (Human) | PR |
| Q9H2S5 | RNF39 | RING finger protein 39 | Homo sapiens (Human) | PR |
| P19474 | TRIM21 | E3 ubiquitin-protein ligase TRIM21 | Homo sapiens (Human) | PR |
| Q9UJV3 | MID2 | Probable E3 ubiquitin-protein ligase MID2 | Homo sapiens (Human) | PR |
| P29590 | PML | Protein PML | Homo sapiens (Human) | PR |
| Q9C029 | TRIM7 | E3 ubiquitin-protein ligase TRIM7 | 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 |
| Q9UPQ4 | TRIM35 | E3 ubiquitin-protein ligase TRIM35 | Homo sapiens (Human) | PR |
| Q6ZMU5 | TRIM72 | Tripartite motif-containing protein 72 | 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 |
| Q86XT4 | TRIM50 | E3 ubiquitin-protein ligase TRIM50 | Homo sapiens (Human) | PR |
| Q5EBN2 | TRIM61 | Putative tripartite motif-containing protein 61 | Homo sapiens (Human) | PR |
| Q9BZY9 | TRIM31 | E3 ubiquitin-protein ligase TRIM31 | Homo sapiens (Human) | PR |
| Q9BXM9 | FSD1L | FSD1-like protein | 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 |
| Q810I2 | Trim50 | E3 ubiquitin-protein ligase TRIM50 | 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 |
| Q1PSW8 | Trim71 | E3 ubiquitin-protein ligase TRIM71 | 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 |
| Q810I1 | Trim50 | E3 ubiquitin-protein ligase TRIM50 | Rattus norvegicus (Rat) | PR |
| D3ZVM4 | Trim71 | E3 ubiquitin-protein ligase TRIM71 | Rattus norvegicus (Rat) | PR |
| Q640S6 | trim72 | Tripartite motif-containing protein 72 | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | PR |
| F6QEU4 | trim71 | E3 ubiquitin-protein ligase TRIM71 | 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 |
| MASFPETDFQ | ICLLCKEMCG | SPAPLSSNSS | ASSSSSQTST | SSGGGGGGPG | AAARRLHVLP |
| 70 | 80 | 90 | 100 | 110 | 120 |
| CLHAFCRPCL | EAHRLPAAGG | GAAGEPLKLR | CPVCDQKVVL | AEAAGMDALP | SSAFLLSNLL |
| 130 | 140 | 150 | 160 | 170 | 180 |
| DAVVATADEP | PPKNGRAGAP | AGAGGHSNHR | HHAHHAHPRA | SASAPPLPQA | PQPPAPSRSA |
| 190 | 200 | 210 | 220 | 230 | 240 |
| PGGPAASPSA | LLLRRPHGCS | SCDEGNAASS | RCLDCQEHLC | DNCVRAHQRV | RLTKDHYIER |
| 250 | 260 | 270 | 280 | 290 | 300 |
| GPPGPGAAAA | AQQLGLGPPF | PGPPFSILSV | FPERLGFCQH | HDDEVLHLYC | DTCSVPICRE |
| 310 | 320 | 330 | 340 | 350 | 360 |
| CTMGRHGGHS | FIYLQEALQD | SRALTIQLLA | DAQQGRQAIQ | LSIEQAQTVA | EQVEMKAKVV |
| 370 | 380 | 390 | 400 | 410 | 420 |
| QSEVKAVTAR | HKKALEEREC | ELLWKVEKIR | QVKAKSLYLQ | VEKLRQNLNK | LESTISAVQQ |
| 430 | 440 | 450 | 460 | 470 | 480 |
| VLEEGRALDI | LLARDRMLAQ | VQELKTVRSL | LQPQEDDRVM | FTPPDQALYL | AIKSFGFVSS |
| 490 | 500 | 510 | 520 | 530 | 540 |
| GAFAPLTKAT | GDGLKRALQG | KVASFTVIGY | DHDGEPRLSG | GDLMSAVVLG | PDGNLFGAEV |
| 550 | 560 | 570 | 580 | 590 | 600 |
| SDQQNGTYVV | SYRPQLEGEH | LVSVTLCNQH | IENSPFKVVV | KSGRSYVGIG | LPGLSFGSEG |
| 610 | 620 | 630 | 640 | 650 | 660 |
| DSDGKLCRPW | GVSVDKEGYI | IVADRSNNRI | QVFKPCGAFH | HKFGTLGSRP | GQFDRPAGVA |
| 670 | 680 | 690 | 700 | 710 | 720 |
| CDASRRIVVA | DKDNHRIQIF | TFEGQFLLKF | GEKGTKNGQF | NYPWDVAVNS | EGKILVSDTR |
| 730 | 740 | 750 | 760 | 770 | 780 |
| NHRIQLFGPD | GVFLNKYGFE | GALWKHFDSP | RGVAFNHEGH | LVVTDFNNHR | LLVIHPDCQS |
| 790 | 800 | 810 | 820 | 830 | 840 |
| ARFLGSEGTG | NGQFLRPQGV | AVDQEGRIIV | ADSRNHRVQM | FESNGSFLCK | FGAQGSGFGQ |
| 850 | 860 | ||||
| MDRPSGIAIT | PDGMIVVVDF | GNNRILVF |