Q92499
Gene name |
DDX1 |
Protein name |
ATP-dependent RNA helicase DDX1 |
Names |
DEAD box protein 1, DEAD box protein retinoblastoma, DBP-RB |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:1653 |
EC number |
3.6.4.13: Acting on ATP; involved in cellular and subcellular movement |
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

3 structures for Q92499
Entry ID | Method | Resolution | Chain | Position | Source |
---|---|---|---|---|---|
4XW3 | X-ray | 200 A | A/B | 72-283 | PDB |
8TBX | X-ray | 271 A | PDB | ||
AF-Q92499-F1 | Predicted | AlphaFoldDB |
477 variants for Q92499
Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
---|---|---|---|---|---|
CA42639162 rs761476299 |
2 | A>V | No |
ClinGen TOPMed gnomAD |
|
CA345881639 rs1442129612 |
3 | A>T | No |
ClinGen TOPMed gnomAD |
|
rs10165091 CA42639175 |
4 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA345881670 rs1406348283 |
5 | S>C | No |
ClinGen TOPMed gnomAD |
|
CA345881671 rs1406348283 |
5 | S>F | No |
ClinGen TOPMed gnomAD |
|
rs1182259235 CA345881666 |
5 | S>T | No |
ClinGen TOPMed |
|
rs775600567 CA1537318 |
7 | M>V | No |
ClinGen ExAC gnomAD |
|
rs1208606375 CA345883089 |
9 | V>I | No |
ClinGen gnomAD |
|
CA1537319 rs201662298 |
10 | M>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA42641638 rs879086962 |
11 | P>L | No |
ClinGen Ensembl |
|
rs764339515 CA1537320 |
12 | E>G | No |
ClinGen ExAC gnomAD |
|
rs766871564 CA42641645 |
12 | E>Q | No |
ClinGen Ensembl |
|
rs201230296 CA1537321 |
13 | I>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs1422253406 CA345883992 |
15 | Q>E | No |
ClinGen TOPMed |
|
CA1537323 rs199880652 |
17 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1246889545 CA345884072 |
18 | E>Q | No |
ClinGen gnomAD |
|
CA1537324 rs750891600 |
19 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1181084423 CA345884147 |
20 | M>V | No |
ClinGen TOPMed |
|
CA345884166 rs946814111 |
21 | D>H | No |
ClinGen gnomAD |
|
CA42641655 rs946814111 |
21 | D>N | No |
ClinGen gnomAD |
|
rs750850002 CA1537342 |
24 | L>F | No |
ClinGen ExAC gnomAD |
|
rs147696327 CA1537343 |
26 | T>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA345884528 rs1236045021 |
26 | T>S | No |
ClinGen TOPMed |
|
CA1537344 rs766957264 |
30 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1332134200 CA345884666 |
30 | A>P | No |
ClinGen TOPMed |
|
CA42641969 rs571665866 |
31 | E>A | No |
ClinGen Ensembl |
|
rs754483644 CA1537346 |
32 | S>A | No |
ClinGen ExAC gnomAD |
|
CA1537348 rs2302929 |
35 | L>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs996518951 CA42642033 |
36 | I>F | No |
ClinGen TOPMed |
|
rs1426998859 CA345884891 |
38 | G>V | No |
ClinGen gnomAD |
|
CA1537350 rs777404346 |
43 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1466514648 CA345884995 |
44 | M>T | No |
ClinGen TOPMed |
|
TCGA novel | 55 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA345885326 rs1336837148 |
57 | S>C | No |
ClinGen TOPMed |
|
TCGA novel | 57 | S>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA1537386 rs11550369 |
61 | I>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA1537387 rs763523667 |
63 | I>M | No |
ClinGen ExAC gnomAD |
|
rs753461061 CA1537388 |
64 | V>F | No |
ClinGen ExAC gnomAD |
|
CA1537389 rs368985586 |
65 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1318805337 CA345885376 |
65 | Y>N | No |
ClinGen gnomAD |
|
rs1558450549 CA345885408 |
67 | T>I | No |
ClinGen Ensembl |
|
CA1537390 rs764996490 |
68 | L>V | No |
ClinGen ExAC gnomAD |
|
rs1480289544 CA345885426 |
69 | K>E | No |
ClinGen TOPMed gnomAD |
|
CA345885502 rs1333933064 |
72 | Q>H | No |
ClinGen gnomAD |
|
CA1537391 rs750259842 |
73 | E>K | No |
ClinGen ExAC gnomAD |
|
rs758221603 CA1537392 |
74 | G>D | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 77 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel rs751468588 CA1537394 |
77 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen ExAC gnomAD |
CA345885636 rs1418567211 |
79 | T>I | No |
ClinGen TOPMed |
|
CA345885648 rs1558450568 |
80 | T>R | No |
ClinGen Ensembl |
|
CA42643593 rs977034772 |
81 | I>M | No |
ClinGen Ensembl |
|
CA345885656 rs1464436328 |
81 | I>V | No |
ClinGen gnomAD |
|
rs553463267 CA42643594 |
82 | K>R | No |
ClinGen Ensembl |
|
rs777785275 CA1537397 |
84 | G>D | No |
ClinGen ExAC gnomAD |
|
rs749505330 CA1537398 |
85 | A>G | No |
ClinGen ExAC gnomAD |
|
CA345887353 rs1228564172 |
91 | W>L | No |
ClinGen TOPMed |
|
TCGA novel | 92 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA345887391 rs1361542771 |
93 | M>I | No |
ClinGen gnomAD |
|
CA345887386 rs1200019793 |
93 | M>R | No |
ClinGen gnomAD |
|
CA1537413 rs377594537 |
93 | M>V | No |
ClinGen ESP ExAC gnomAD |
|
rs777884030 CA1537415 |
95 | P>A | No |
ClinGen ExAC gnomAD |
|
CA1537416 rs754007875 |
96 | Y>N | No |
ClinGen ExAC gnomAD |
|
CA345887461 rs1305700255 |
97 | D>E | No |
ClinGen gnomAD |
|
CA1537419 rs779224512 |
100 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA1537418 rs779224512 |
100 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
rs531560941 CA1537430 |
104 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1233607382 CA345888707 |
104 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
CA345888736 rs1352684635 |
105 | G>R | No |
ClinGen TOPMed gnomAD |
|
rs759483708 CA1537432 |
107 | D>G | No |
ClinGen ExAC gnomAD |
|
rs1451867567 CA345888805 |
108 | G>S | No |
ClinGen gnomAD |
|
rs1215157934 CA345888837 |
109 | L>H | No |
ClinGen gnomAD |
|
CA345888930 rs1250695716 |
111 | C>* | No |
ClinGen gnomAD |
|
rs767314009 CA1537433 |
112 | Q>P | No |
ClinGen ExAC gnomAD |
|
rs1178422592 CA345889016 |
114 | R>I | No |
ClinGen TOPMed |
|
rs1178422592 CA345889012 |
114 | R>K | No |
ClinGen TOPMed |
|
TCGA novel | 117 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1472019387 CA345889168 |
118 | E>Q | No |
ClinGen TOPMed gnomAD |
|
CA1537436 rs373201659 |
125 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA1537435 rs373201659 |
125 | T>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA345889534 rs1176323527 |
126 | K>E | No |
ClinGen TOPMed |
|
rs1471433374 CA345889566 |
127 | G>R | No |
ClinGen TOPMed gnomAD |
|
CA1537439 rs541637062 |
130 | K>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA345890563 rs1416401709 |
131 | G>E | No |
ClinGen gnomAD |
|
rs1303504352 CA345890603 |
133 | H>Q | No |
ClinGen gnomAD |
|
rs1218827574 CA345890600 |
133 | H>R | No |
ClinGen gnomAD |
|
rs1354498662 CA345890595 |
133 | H>Y | No |
ClinGen TOPMed gnomAD |
|
CA1537461 rs552466839 |
134 | Y>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs192868487 CA345890654 |
135 | Y>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA1537462 rs192868487 |
135 | Y>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA345890645 rs1336906997 |
135 | Y>H | No |
ClinGen TOPMed gnomAD |
|
rs1486278039 CA345890711 |
137 | V>L | No |
ClinGen gnomAD |
|
rs748642812 CA1537464 |
138 | S>Y | No |
ClinGen ExAC gnomAD |
|
CA42648015 rs200330218 |
139 | C>F | No |
ClinGen Ensembl |
|
CA345890757 rs1255814704 |
140 | H>D | No |
ClinGen gnomAD |
|
CA1537467 rs748704428 |
145 | C>R | No |
ClinGen ExAC gnomAD |
|
CA1537469 rs556274301 |
146 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA42648046 rs909561510 |
146 | R>T | No |
ClinGen TOPMed |
|
rs771988190 CA1537471 |
148 | G>R | No |
ClinGen ExAC gnomAD |
|
CA1537473 rs760665184 |
149 | W>C | No |
ClinGen ExAC gnomAD |
|
rs775481415 CA1537472 |
149 | W>G | No |
ClinGen ExAC gnomAD |
|
CA1537474 rs768676344 |
152 | M>V | No |
ClinGen ExAC gnomAD |
|
CA345891065 rs1297315212 |
157 | D>G | No |
ClinGen gnomAD |
|
CA345891071 rs1215241235 |
158 | L>I | No |
ClinGen TOPMed |
|
CA345891077 rs1486988796 |
158 | L>P | No |
ClinGen TOPMed |
|
rs1324261817 CA345891083 |
159 | G>R | No |
ClinGen gnomAD |
|
TCGA novel | 172 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs373674722 CA42648414 |
175 | H>L | No |
ClinGen ESP gnomAD |
|
rs1381273262 CA345891509 |
175 | H>Y | No |
ClinGen gnomAD |
|
rs746753084 CA1537493 |
176 | N>K | No |
ClinGen ExAC gnomAD |
|
rs1301879917 CA345891593 |
178 | Q>K | No |
ClinGen gnomAD |
|
CA1537494 rs140238349 |
184 | E>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs781101961 CA1537512 |
186 | F>S | No |
ClinGen ExAC |
|
CA345891997 CA1537513 rs201032703 |
188 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1248274132 CA345891983 |
188 | M>V | No |
ClinGen gnomAD |
|
CA345892012 rs1295131054 |
189 | H>R | No |
ClinGen gnomAD |
|
TCGA novel | 190 | D>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA345892058 rs1188315745 |
191 | T>N | No |
ClinGen gnomAD |
|
CA42648804 rs937240253 |
192 | I>T | No |
ClinGen Ensembl |
|
CA1537514 rs769814818 |
192 | I>V | No |
ClinGen ExAC gnomAD |
|
rs898033311 CA42648807 |
195 | Y>H | No |
ClinGen TOPMed |
|
rs577309697 CA1537515 |
198 | I>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs1055665221 CA42648818 |
198 | I>V | No |
ClinGen Ensembl |
|
CA42648831 rs745895894 |
200 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA1537516 rs745895894 |
200 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA42648833 rs566964575 |
201 | G>R | No |
ClinGen TOPMed |
|
CA1537518 rs137946800 |
203 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs866060575 CA345892341 |
206 | S>C | No |
ClinGen TOPMed |
|
CA42648860 rs866060575 |
206 | S>F | No |
ClinGen TOPMed |
|
CA345892337 rs1371728012 |
206 | S>T | No |
ClinGen gnomAD |
|
rs199550453 CA42650309 |
209 | G>V | No |
ClinGen 1000Genomes |
|
CA1537552 rs752422924 |
211 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs376500579 CA1537550 |
211 | D>H | No |
ClinGen ESP ExAC gnomAD |
|
CA1537551 rs752422924 |
211 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 211 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1454294029 CA345892804 |
212 | L>I | No |
ClinGen gnomAD |
|
rs1174850621 CA345892829 |
213 | G>R | No |
ClinGen gnomAD |
|
rs1174850621 CA345892822 |
213 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
rs1317843134 CA345892841 |
213 | G>V | No |
ClinGen TOPMed |
|
TCGA novel | 217 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA1537554 rs371333614 |
218 | I>L | No |
ClinGen ESP ExAC gnomAD |
|
CA1537555 rs184905286 |
218 | I>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs777609261 CA1537557 |
220 | P>S | No |
ClinGen ExAC gnomAD |
|
rs753759700 CA1537558 |
221 | H>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA345892905 rs1227060875 |
221 | H>N | No |
ClinGen TOPMed |
|
rs753759700 CA1537559 |
221 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA1537560 rs780075692 |
222 | M>K | No |
ClinGen ExAC gnomAD |
|
CA42650387 rs866965172 |
222 | M>V | No |
ClinGen gnomAD |
|
CA42650391 rs777276949 |
223 | K>I | No |
ClinGen Ensembl |
|
rs1441681422 CA345892927 |
224 | N>H | No |
ClinGen gnomAD |
|
CA345892943 rs1305544250 |
226 | A>S | No |
ClinGen TOPMed gnomAD |
|
rs781409965 CA1537563 |
227 | L>H | No |
ClinGen ExAC gnomAD |
|
rs768639324 CA1537562 |
227 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 229 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs748385724 CA1537564 |
231 | C>S | No |
ClinGen ExAC gnomAD |
|
rs1213239069 CA345892989 |
233 | L>F | No |
ClinGen gnomAD |
|
CA1537565 rs770182865 |
234 | K>R | No |
ClinGen ExAC gnomAD |
|
rs781189569 CA1537580 |
235 | N>T | No |
ClinGen ExAC gnomAD |
|
CA345893090 rs1269781934 |
241 | N>H | No |
ClinGen Ensembl |
|
rs770183528 CA1537582 |
241 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
CA1537585 rs771440165 |
243 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA1537586 rs774850505 |
245 | E>D | No |
ClinGen ExAC gnomAD |
|
CA1537588 rs760023774 |
246 | E>K | No |
ClinGen ExAC gnomAD |
|
CA1537587 rs760023774 |
246 | E>Q | No |
ClinGen ExAC gnomAD |
|
CA1537589 rs774909861 |
249 | F>S | No |
ClinGen ExAC gnomAD |
|
rs537632009 CA42650568 |
251 | P>A | No |
ClinGen TOPMed |
|
rs1388696120 CA345893261 |
251 | P>L | No |
ClinGen gnomAD |
|
CA42650578 rs537632009 |
251 | P>S | No |
ClinGen TOPMed |
|
CA42650585 rs916125332 |
254 | G>D | No |
ClinGen Ensembl |
|
CA1537590 rs140834826 |
255 | F>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1287480010 CA345893346 |
256 | V>G | No |
ClinGen gnomAD |
|
rs753510952 CA1537592 |
257 | A>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs151049117 CA42650603 |
259 | S>P | No |
ClinGen 1000Genomes |
|
CA345893392 rs1414302428 |
260 | K>Q | No |
ClinGen gnomAD |
|
rs761538583 CA1537593 |
260 | K>R | No |
ClinGen ExAC gnomAD |
|
rs750361299 CA1537595 |
261 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs144722775 CA1537594 |
261 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA1537598 rs575508622 |
262 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs575508622 CA1537597 |
262 | P>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs749521700 CA1537601 |
263 | D>Y | No |
ClinGen ExAC gnomAD |
|
rs1290865594 CA345893494 |
266 | I>L | No |
ClinGen Ensembl |
|
CA345893502 rs568577067 |
266 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
CA1537602 rs568577067 |
266 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA1537603 rs779201232 |
267 | V>A | No |
ClinGen ExAC gnomAD |
|
CA345893531 rs1304384791 |
268 | K>N | No |
ClinGen gnomAD |
|
CA1537604 rs746361180 |
271 | H>Y | No |
ClinGen ExAC gnomAD |
|
rs762841049 CA1537613 |
273 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
CA345894016 rs762841049 |
273 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs958527959 CA42651317 |
277 | V>G | No |
ClinGen TOPMed |
|
rs1447685055 CA345894049 |
278 | T>I | No |
ClinGen gnomAD |
|
CA345894050 rs1167920388 |
279 | Q>K | No |
ClinGen gnomAD |
|
TCGA novel | 281 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs751531563 CA1537615 |
281 | K>R | No |
ClinGen ExAC gnomAD |
|
rs764331933 CA1537617 |
284 | P>S | No |
ClinGen ExAC gnomAD |
|
CA345894085 rs764331933 |
284 | P>T | No |
ClinGen ExAC gnomAD |
|
CA1537618 rs754095607 |
285 | N>D | No |
ClinGen ExAC gnomAD |
|
rs367564124 CA1537619 |
285 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
TCGA novel | 286 | A>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA1537620 rs199998875 |
286 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA345894102 rs1433624339 |
287 | P>A | No |
ClinGen gnomAD |
|
rs746176610 CA1537621 COSM181656 |
287 | P>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
rs1237044183 CA345894118 |
289 | A>G | No |
ClinGen gnomAD |
|
CA345894121 rs1312427926 |
290 | L>V | No |
ClinGen TOPMed gnomAD |
|
rs768141062 CA1537625 |
291 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA345894166 rs1301592031 |
295 | S>F | No |
ClinGen TOPMed |
|
rs1463608037 CA345894169 |
296 | R>Q | No |
ClinGen gnomAD |
|
rs146433321 CA1537626 |
296 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA345894238 rs1271731310 |
301 | Q>* | No |
ClinGen TOPMed |
|
CA1537629 rs547863300 |
304 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA345894286 rs1376834613 |
305 | N>D | No |
ClinGen TOPMed gnomAD |
|
rs766205642 CA1537631 |
306 | I>V | No |
ClinGen ExAC gnomAD |
|
CA345894331 rs1385914831 |
308 | Q>E | No |
ClinGen gnomAD |
|
CA345894343 rs1158501511 |
309 | F>L | No |
ClinGen TOPMed gnomAD |
|
rs1456303550 CA345894399 |
312 | Y>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
rs370508427 CA1537633 |
313 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1389008261 CA345894424 |
314 | D>N | No |
ClinGen gnomAD |
|
rs944030023 CA42651436 |
315 | N>S | No |
ClinGen TOPMed |
|
CA345894521 rs1190941868 |
319 | R>T | No |
ClinGen TOPMed |
|
rs753554770 CA42655761 |
321 | L>F | No |
ClinGen Ensembl |
|
rs568982612 CA1537673 |
322 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs781623484 CA1537674 |
326 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA345895315 rs1453220246 |
329 | A>D | No |
ClinGen TOPMed |
|
rs201761924 CA42655774 |
330 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1313727702 CA345895318 COSM1325851 |
330 | R>Q | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
rs201761924 COSM1738714 CA1537675 |
330 | R>W | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
rs1226747930 CA345895335 |
332 | Q>H | No |
ClinGen TOPMed gnomAD |
|
CA345895339 rs1312055064 |
333 | L>F | No |
ClinGen gnomAD |
|
CA1537677 rs148306980 |
333 | L>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs748866077 CA1537678 |
337 | E>A | No |
ClinGen ExAC gnomAD |
|
rs778737731 CA1537680 |
339 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
CA1537704 rs768599636 |
340 | V>A | No |
ClinGen ExAC gnomAD |
|
rs749333619 CA345896205 |
342 | I>K | No |
ClinGen ExAC gnomAD |
|
rs749333619 CA1537706 |
342 | I>T | No |
ClinGen ExAC gnomAD |
|
CA345896218 rs1218361018 |
344 | V>A | No |
ClinGen TOPMed gnomAD |
|
rs1365269588 CA345896215 |
344 | V>L | No |
ClinGen gnomAD |
|
CA1537708 rs774555403 |
347 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1266914881 CA345896234 |
347 | P>S | No |
ClinGen gnomAD |
|
rs1252507841 CA345896257 |
351 | D>N | No |
ClinGen TOPMed |
|
CA345896291 rs1413066700 |
356 | T>A | No |
ClinGen TOPMed gnomAD |
|
rs377091883 CA42658060 |
360 | N>Y | No |
ClinGen Ensembl |
|
CA345896325 rs1473679630 |
361 | L>S | No |
ClinGen gnomAD |
|
CA1537712 rs376584969 |
362 | S>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA345896338 rs1388026965 |
363 | Q>R | No |
ClinGen gnomAD |
|
CA345896356 rs1461994422 |
366 | F>L | No |
ClinGen gnomAD |
|
CA345896425 rs1344764437 |
374 | G>R | No |
ClinGen gnomAD |
|
rs772246112 CA1537728 |
379 | G>D | No |
ClinGen ExAC gnomAD |
|
CA345896463 rs1251441114 |
380 | Y>C | No |
ClinGen gnomAD |
|
CA345896494 rs1443182579 |
384 | I>T | No |
ClinGen TOPMed gnomAD |
|
CA1537730 rs199675013 |
387 | M>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1245286617 CA345896516 |
387 | M>R | No |
ClinGen TOPMed |
|
rs983830054 CA42658553 |
389 | N>S | No |
ClinGen gnomAD |
|
CA345896541 rs1391873446 COSM476055 |
390 | Q>H | kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
CA345896544 rs1283102763 |
391 | I>V | No |
ClinGen TOPMed |
|
rs764818337 CA1537734 |
393 | Q>* | No |
ClinGen ExAC gnomAD |
|
rs1397397612 CA345896567 |
394 | V>A | No |
ClinGen gnomAD |
|
rs991012234 CA42658616 |
394 | V>L | No |
ClinGen Ensembl |
|
CA1537735 rs749912888 |
395 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1430738419 CA345896590 |
398 | G>E | No |
ClinGen TOPMed gnomAD |
|
TCGA novel | 400 | R>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 400 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs146515867 CA1537737 COSM570654 |
400 | R>T | lung [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
CA345896982 rs1208066678 |
403 | V>A | No |
ClinGen gnomAD |
|
rs1463561551 CA345896975 |
403 | V>M | No |
ClinGen gnomAD |
|
CA1537754 rs142039776 |
404 | I>M | No |
ClinGen ESP ExAC gnomAD |
|
rs1434703372 CA345896998 |
405 | V>I | No |
ClinGen gnomAD |
|
CA345897080 rs1472697585 |
411 | H>R | No |
ClinGen gnomAD |
|
CA345897076 rs1573048857 |
411 | H>Y | No |
ClinGen Ensembl |
|
rs767307613 CA1537757 |
414 | D>G | No |
ClinGen ExAC gnomAD |
|
CA345897119 COSM1007995 rs1385838860 |
414 | D>N | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
CA345897131 rs1253937214 |
415 | V>I | No |
ClinGen TOPMed |
|
CA345897162 rs1388954268 |
417 | K>Q | No |
ClinGen gnomAD |
|
CA345897183 rs1321951921 |
418 | L>Q | No |
ClinGen gnomAD |
|
CA345897221 rs1237782286 |
421 | K>E | No |
ClinGen gnomAD |
|
rs140166845 CA1537762 |
422 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA345897248 rs1327170253 |
423 | M>V | No |
ClinGen gnomAD |
|
CA345897274 rs1161352665 |
424 | H>R | No |
ClinGen gnomAD |
|
TCGA novel | 426 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA345897341 COSM40013 rs1266025847 |
429 | V>I | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated gnomAD |
rs1266025847 CA345897343 |
429 | V>L | No |
ClinGen gnomAD |
|
TCGA novel | 431 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs147728753 CA345897431 |
435 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA1537764 rs147728753 |
435 | D>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1161011326 CA345897448 |
436 | S>C | No |
ClinGen TOPMed gnomAD |
|
rs376947292 CA1537766 |
437 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs770285687 CA1537768 |
440 | T>S | No |
ClinGen ExAC gnomAD |
|
rs1438055578 CA345897509 |
441 | V>L | No |
ClinGen TOPMed |
|
rs891689465 CA42660136 |
444 | V>L | No |
ClinGen TOPMed gnomAD |
|
CA1537772 rs773770521 |
445 | V>I | No |
ClinGen ExAC gnomAD |
|
CA42660144 rs1029494543 |
446 | V>A | No |
ClinGen TOPMed |
|
CA1537775 rs767032016 |
449 | N>H | No |
ClinGen ExAC gnomAD |
|
CA1537774 rs767032016 |
449 | N>Y | No |
ClinGen ExAC gnomAD |
|
rs1177959325 CA345897619 |
450 | P>T | No |
ClinGen TOPMed |
|
CA345897631 rs1410750774 |
451 | K>E | No |
ClinGen TOPMed gnomAD |
|
CA345897638 rs760398181 |
451 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs760398181 CA1537776 |
451 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA1537777 rs763944785 |
453 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
CA1537778 rs753763793 |
454 | R>K | No |
ClinGen ExAC gnomAD |
|
CA1537779 rs757191221 |
456 | W>R | No |
ClinGen ExAC gnomAD |
|
CA42660217 rs1021479352 |
458 | R>G | No |
ClinGen gnomAD |
|
rs766451073 CA1537780 |
459 | L>H | No |
ClinGen ExAC gnomAD |
|
rs751544101 CA1537781 |
460 | G>E | No |
ClinGen ExAC gnomAD |
|
CA345897711 rs1467161519 |
461 | K>N | No |
ClinGen TOPMed |
|
rs1006939598 CA42660228 |
463 | H>R | No |
ClinGen TOPMed |
|
CA345897728 rs1342620510 |
464 | I>V | No |
ClinGen gnomAD |
|
CA42660744 rs763790527 |
467 | D>G | No |
ClinGen Ensembl |
|
rs1558458561 CA345897766 |
468 | D>N | No |
ClinGen Ensembl |
|
rs767762546 CA1537802 |
469 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1558458568 CA345897790 |
471 | A>G | No |
ClinGen Ensembl |
|
rs752942556 CA1537804 |
472 | K>E | No |
ClinGen ExAC gnomAD |
|
CA1537805 rs756442471 |
473 | D>G | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 473 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA345897816 rs1259188059 |
475 | T>A | No |
ClinGen Ensembl |
|
rs1464666031 CA345897818 |
475 | T>I | No |
ClinGen gnomAD |
|
rs1336126402 CA345897827 |
476 | R>S | No |
ClinGen gnomAD |
|
CA345897824 rs1270073034 |
476 | R>T | No |
ClinGen TOPMed |
|
rs749562135 CA1537807 |
478 | G>V | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 479 | A>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1295264073 CA345897849 |
480 | N>S | No |
ClinGen gnomAD |
|
CA345897866 rs1573049360 |
482 | P>L | No |
ClinGen Ensembl |
|
CA1537828 rs752140647 |
484 | M>L | No |
ClinGen ExAC gnomAD |
|
rs755375571 CA1537829 |
485 | W>C | No |
ClinGen ExAC gnomAD |
|
CA345898119 rs1222834302 |
486 | S>C | No |
ClinGen gnomAD |
|
rs750873356 CA1537830 |
488 | A>G | No |
ClinGen ExAC gnomAD |
|
CA345898151 rs1426536129 |
489 | I>L | No |
ClinGen TOPMed |
|
CA345898158 rs1190958879 |
489 | I>T | No |
ClinGen TOPMed |
|
rs1489969037 CA345898173 |
490 | K>T | No |
ClinGen TOPMed |
|
rs1198973265 CA345898192 |
491 | I>M | No |
ClinGen gnomAD |
|
CA42662147 rs1042254947 |
494 | G>E | No |
ClinGen TOPMed gnomAD |
|
CA345898207 rs1461255538 |
494 | G>R | No |
ClinGen Ensembl |
|
rs758946709 CA1537831 |
498 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
CA1537832 rs758946709 |
498 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA345898238 rs1166773972 |
499 | R>Q | No |
ClinGen gnomAD |
|
CA42662178 rs780158807 |
499 | R>W | No |
ClinGen gnomAD |
|
rs746473980 CA1537833 |
501 | I>M | No |
ClinGen ExAC gnomAD |
|
rs371887533 CA1537834 |
503 | E>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs780702989 CA1537835 |
504 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1308316556 CA345898270 |
504 | H>Y | No |
ClinGen gnomAD |
|
rs1278421903 CA345898292 |
507 | D>N | No |
ClinGen gnomAD |
|
rs149350581 CA1537838 |
510 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1357759250 CA345898341 |
512 | F>L | No |
ClinGen TOPMed gnomAD |
|
CA42662208 rs868656378 |
513 | C>S | No |
ClinGen Ensembl |
|
CA1537839 rs200944773 |
517 | I>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA345898415 rs1558459254 |
517 | I>T | No |
ClinGen Ensembl |
|
CA1537840 rs200944773 |
517 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
TCGA novel | 518 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA42662226 rs957929615 |
521 | N>I | No |
ClinGen gnomAD |
|
TCGA novel | 524 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1009005522 CA42668104 |
524 | Q>R | No |
ClinGen TOPMed |
|
CA345898719 rs1484141914 |
525 | Y>N | No |
ClinGen gnomAD |
|
rs12995839 CA42668119 |
528 | Q>H | No |
ClinGen Ensembl |
|
CA1537841 rs774440382 |
529 | Q>K | No |
ClinGen ExAC gnomAD |
|
rs767883275 CA42668139 |
531 | G>A | No |
ClinGen Ensembl |
|
CA345898783 rs1241237908 |
532 | G>A | No |
ClinGen gnomAD |
|
CA42670234 rs148117214 |
533 | P>R | No |
ClinGen ESP TOPMed |
|
TCGA novel | 537 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA1537858 rs201143228 |
540 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs770857804 CA1537859 |
541 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs369671200 CA1537860 |
542 | C>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs745860829 CA345898862 |
544 | C>G | No |
ClinGen ExAC TOPMed gnomAD |
|
CA1537861 rs745860829 |
544 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs768600120 CA1537862 |
547 | G>A | No |
ClinGen ExAC gnomAD |
|
CA345898910 rs1334083526 |
550 | K>N | No |
ClinGen gnomAD |
|
CA1537864 rs761832183 |
552 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1257959426 CA345898974 |
559 | E>G | No |
ClinGen gnomAD |
|
rs775313016 CA1537883 |
564 | G>E | No |
ClinGen ExAC gnomAD |
|
rs530158385 CA1537882 |
564 | G>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA42670975 rs1055971691 |
565 | D>Y | No |
ClinGen TOPMed |
|
rs200312494 CA42670995 |
566 | V>A | No |
ClinGen 1000Genomes TOPMed |
|
CA345899033 rs1558460406 |
566 | V>I | No |
ClinGen Ensembl |
|
CA1537884 rs373130115 |
567 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
TCGA novel | 567 | R>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs769829948 CA1537885 |
568 | F>C | No |
ClinGen ExAC gnomAD |
|
rs1477280372 CA345899074 |
572 | T>A | No |
ClinGen gnomAD |
|
CA42671016 rs146084775 |
573 | D>E | No |
ClinGen ESP TOPMed gnomAD |
|
rs1025093957 CA42671019 |
574 | V>I | No |
ClinGen TOPMed |
|
rs971214803 CA42671037 |
581 | I>S | No |
ClinGen TOPMed |
|
rs766697244 CA1537888 |
582 | H>R | No |
ClinGen ExAC gnomAD |
|
rs201951630 CA345899145 |
583 | G>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs201951630 CA1537890 |
583 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1014513976 CA42671072 |
584 | V>I | No |
ClinGen gnomAD |
|
rs1314132812 CA345899196 |
589 | N>S | No |
ClinGen gnomAD |
|
CA345899200 rs1342555645 |
590 | V>I | No |
ClinGen gnomAD |
|
rs773905294 CA42671133 |
591 | T>A | No |
ClinGen Ensembl |
|
rs774565569 CA1537907 |
593 | P>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA1537908 rs759875462 |
594 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
CA1537909 rs759875462 |
594 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
CA1537911 rs761137218 |
598 | N>S | No |
ClinGen ExAC gnomAD |
|
rs753361392 CA1537913 |
600 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA345899280 rs1385040010 |
602 | R>* | No |
ClinGen gnomAD |
|
rs1385040010 CA345899279 |
602 | R>G | No |
ClinGen gnomAD |
|
rs1450410081 CA345899281 |
602 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
CA42671176 rs930357520 |
603 | I>T | No |
ClinGen TOPMed |
|
CA345899294 rs1172827467 |
604 | G>D | No |
ClinGen gnomAD |
|
rs1352970984 CA345899336 |
611 | R>G | No |
ClinGen TOPMed gnomAD |
|
CA345899382 rs1193890743 |
616 | I>V | No |
ClinGen TOPMed |
|
CA345899394 rs1286190727 |
618 | L>M | No |
ClinGen TOPMed |
|
rs1374820282 CA345899460 |
626 | V>I | No |
ClinGen gnomAD |
|
TCGA novel | 628 | Y>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA1537953 rs747321017 |
630 | V>A | No |
ClinGen ExAC gnomAD |
|
rs1225975665 CA345899493 |
630 | V>I | No |
ClinGen gnomAD |
|
CA1537954 rs769148712 |
634 | R>C | No |
ClinGen ExAC gnomAD |
|
rs777275353 CA1537955 |
634 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA345899542 rs748713059 |
637 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
CA1537956 rs748713059 |
637 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
rs772556624 CA1537958 |
640 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
CA345899567 rs1175428555 |
641 | T>A | No |
ClinGen gnomAD |
|
CA42671753 rs1040858885 |
642 | R>G | No |
ClinGen gnomAD |
|
rs762546378 CA1537959 |
643 | L>R | No |
ClinGen ExAC gnomAD |
|
rs1245341922 CA345899587 |
644 | K>R | No |
ClinGen gnomAD |
|
rs139597816 CA1537960 |
646 | D>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA1537961 rs139597816 |
646 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA1537962 rs139597816 |
646 | D>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA345899613 rs1379036033 |
648 | G>D | No |
ClinGen TOPMed |
|
rs1054962638 CA42671769 |
650 | T>S | No |
ClinGen TOPMed gnomAD |
|
CA345899635 rs1573053513 |
651 | I>M | No |
ClinGen Ensembl |
|
rs1355783107 CA345899630 |
651 | I>V | No |
ClinGen gnomAD |
|
rs1191353174 CA345899661 |
655 | E>K | No |
ClinGen TOPMed |
|
rs1448427597 CA345899675 |
656 | M>I | No |
ClinGen TOPMed |
|
CA345899681 rs1373203879 |
657 | Q>R | No |
ClinGen gnomAD |
|
rs773858668 CA1537980 |
661 | E>A | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 663 | E>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs371196534 CA42671983 |
664 | E>D | No |
ClinGen Ensembl |
|
rs767271793 CA1537982 |
667 | N>K | No |
ClinGen ExAC gnomAD |
|
rs1463789788 CA345899769 |
668 | C>S | No |
ClinGen TOPMed |
|
rs1463789788 CA345899767 |
668 | C>Y | No |
ClinGen TOPMed |
|
TCGA novel | 670 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs146317353 CA1537984 |
670 | I>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA1537983 rs775228001 |
670 | I>V | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 671 | S>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA345899788 rs1474818068 |
671 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
CA345899798 rs1573053697 |
673 | V>L | No |
ClinGen Ensembl |
|
CA345899808 rs1429387422 |
674 | E>V | No |
ClinGen gnomAD |
|
rs753819618 CA1537986 |
675 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1395854521 CA345899817 |
676 | D>H | No |
ClinGen gnomAD |
|
CA42672004 rs990384030 |
677 | I>M | No |
ClinGen Ensembl |
|
rs766539109 CA1537988 |
677 | I>V | No |
ClinGen ExAC gnomAD |
|
CA1537989 rs369172740 |
678 | K>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA1537990 rs755208682 |
678 | K>R | No |
ClinGen ExAC gnomAD |
|
CA1537991 rs547598727 |
680 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs1225420700 CA345899872 |
684 | F>S | No |
ClinGen gnomAD |
|
rs1558460887 CA345899887 |
686 | G>E | No |
ClinGen Ensembl |
|
rs778134003 CA1537994 |
687 | K>E | No |
ClinGen ExAC gnomAD |
|
CA345899919 rs1269140881 |
691 | G>C | No |
ClinGen TOPMed gnomAD |
|
CA345899917 rs1269140881 |
691 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
CA42672071 rs923271125 |
693 | K>E | No |
ClinGen Ensembl |
|
rs1334709422 CA345899940 |
694 | R>K | No |
ClinGen TOPMed |
|
rs1468988945 CA345899990 |
700 | S>N | No |
ClinGen gnomAD |
|
TCGA novel | 700 | S>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs116312370 CA1538010 |
702 | K>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA42672470 rs866682309 |
702 | K>R | No |
ClinGen Ensembl |
|
CA1538011 rs778246765 |
703 | G>D | No |
ClinGen ExAC gnomAD |
|
rs754266526 CA1538012 |
706 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 707 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA1538014 rs779421358 |
709 | A>S | No |
ClinGen ExAC gnomAD |
|
CA345900054 rs1410540149 |
710 | P>T | No |
ClinGen TOPMed |
|
CA1538015 rs745328114 |
711 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
CA345900069 rs1333901556 |
712 | V>A | No |
ClinGen gnomAD |
|
rs139636088 CA1538016 |
721 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
TCGA novel | 722 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA1538017 rs556029393 |
722 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 723 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs768315888 CA1538019 |
724 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
CA1538020 rs768315888 |
724 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA1538022 rs769796012 |
726 | F>C | No |
ClinGen ExAC gnomAD |
|
rs1573054079 CA345900163 |
726 | F>L | No |
ClinGen Ensembl |
|
rs576509752 CA1538023 |
728 | H>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs759681065 CA1538024 |
729 | L>V | No |
ClinGen ExAC gnomAD |
|
rs1239184395 CA345900189 |
731 | Y>H | No |
ClinGen TOPMed |
|
rs1374443535 CA345900209 |
734 | N>D | No |
ClinGen TOPMed |
|
rs1187666037 CA345900212 |
734 | N>S | No |
ClinGen Ensembl |
|
CA345900224 rs1573054123 |
736 | L>M | No |
ClinGen Ensembl |
|
rs775550327 CA1538026 |
736 | L>P | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 738 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA42672554 rs537023761 |
739 | T>P | No |
ClinGen 1000Genomes gnomAD |
|
rs537023761 CA345900244 |
739 | T>S | No |
ClinGen 1000Genomes gnomAD |
|
rs760995496 CA345900259 |
741 | F>L | No |
ClinGen ExAC gnomAD |
|
CA345900258 rs1329519126 |
741 | F>R | No |
ClinGen TOPMed |
|
CA1538027 rs760995496 |
741 | F>S | No |
ClinGen ExAC gnomAD |
No associated diseases with Q92499
6 regional properties for Q92499
Type | Name | Position | InterPro Accession |
---|---|---|---|
domain | Chromo/chromo shadow domain | 58 - 111 | IPR000953 |
repeat | Ankyrin repeat | 572 - 665 | IPR002110-1 |
repeat | Ankyrin repeat | 666 - 698 | IPR002110-2 |
repeat | Ankyrin repeat | 699 - 728 | IPR002110-3 |
conserved_site | Chromo domain, conserved site | 76 - 96 | IPR023779 |
domain | Chromo domain | 59 - 109 | IPR023780 |
Functions
Description | ||
---|---|---|
EC Number | 3.6.4.13 | Acting on ATP; involved in cellular and subcellular movement |
Subcellular Localization |
|
|
PANTHER Family | ||
PANTHER Subfamily | ||
PANTHER Protein Class | ||
PANTHER Pathway Category | No pathway information available |
10 GO annotations of cellular component
Name | Definition |
---|---|
cleavage body | A nuclear body that contains proteins involved in pre-mRNA 3'-end cleavage and polyadenylation, such as DDX1, CSTF2 and CPSFs, as well as the transcription factors TFIIE and TFIIF. Cleavage bodies are localized adjacent to Cajal bodies and are involved in mRNA3'-end processing. |
cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
cytoplasmic stress granule | A dense aggregation in the cytosol composed of proteins and RNAs that appear when the cell is under stress. |
cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
mitochondrion | A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration. |
nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
ribonucleoprotein complex | A macromolecular complex that contains both RNA and protein molecules. |
tRNA-splicing ligase complex | A protein complex that catalyzes the ligation of cleaved pre-tRNAs by directly joining spliced tRNA halves to mature-sized tRNAs by incorporating the precursor-derived splice junction phosphate into the mature tRNA as a canonical 3',5'-phosphodiester. |
12 GO annotations of molecular function
Name | Definition |
---|---|
ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
ATP hydrolysis activity | Catalysis of the reaction: ATP + H2O = ADP + H+ phosphate. ATP hydrolysis is used in some reactions as an energy source, for example to catalyze a reaction or drive transport against a concentration gradient. |
chromatin binding | Binding to chromatin, the network of fibers of DNA, protein, and sometimes RNA, that make up the chromosomes of the eukaryotic nucleus during interphase. |
DNA binding | Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid). |
DNA/RNA helicase activity | Unwinding of a DNA/RNA duplex, i.e. a double helix in which a strand of DNA pairs with a complementary strand of RNA, driven by ATP hydrolysis. |
double-stranded RNA binding | Binding to double-stranded RNA. |
exonuclease activity | Catalysis of the hydrolysis of ester linkages within nucleic acids by removing nucleotide residues from the 3' or 5' end. |
nuclease activity | Catalysis of the hydrolysis of ester linkages within nucleic acids. |
poly(A) binding | Binding to a sequence of adenylyl residues in an RNA molecule, such as the poly(A) tail, a sequence of adenylyl residues at the 3' end of eukaryotic mRNA. |
RNA binding | Binding to an RNA molecule or a portion thereof. |
RNA helicase activity | Unwinding of an RNA helix, driven by ATP hydrolysis. |
transcription coregulator activity | A transcription regulator activity that modulates the transcription of specific gene sets via binding to a DNA-bound DNA-binding transcription factor, either on its own or as part of a complex. Coregulators often act by altering chromatin structure and modifications. For example, one class of transcription coregulators modifies chromatin structure through covalent modification of histones. A second class remodels the conformation of chromatin in an ATP-dependent fashion. A third class modulates interactions of DNA-bound DNA-binding transcription factors with other transcription coregulators. |
12 GO annotations of biological process
Name | Definition |
---|---|
defense response to virus | Reactions triggered in response to the presence of a virus that act to protect the cell or organism. |
DNA duplex unwinding | The process in which interchain hydrogen bonds between two strands of DNA are broken or 'melted', generating a region of unpaired single strands. |
double-strand break repair | The repair of double-strand breaks in DNA via homologous and nonhomologous mechanisms to reform a continuous DNA helix. |
innate immune response | Innate immune responses are defense responses mediated by germline encoded components that directly recognize components of potential pathogens. |
nucleic acid phosphodiester bond hydrolysis | The nucleic acid metabolic process in which the phosphodiester bonds between nucleotides are cleaved by hydrolysis. |
positive regulation of I-kappaB kinase/NF-kappaB signaling | Any process that activates or increases the frequency, rate or extent of I-kappaB kinase/NF-kappaB signaling. |
positive regulation of myeloid dendritic cell cytokine production | Any process that activates or increases the frequency, rate, or extent of myeloid dendritic cell cytokine production. |
protein localization to cytoplasmic stress granule | A process in which a protein is transported to, or maintained in, a location within a cytoplasmic stress granule. |
regulation of translational initiation | Any process that modulates the frequency, rate or extent of translational initiation. |
response to exogenous dsRNA | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an exogenous double-stranded RNA stimulus. |
spliceosomal complex assembly | The aggregation, arrangement and bonding together of a spliceosomal complex, a ribonucleoprotein apparatus that catalyzes nuclear mRNA splicing via transesterification reactions. |
tRNA splicing, via endonucleolytic cleavage and ligation | Splicing of tRNA substrates via recognition of the folded RNA structure that brings the 5' and 3' splice sites into proximity and cleavage of the RNA at both the 3' and 5' splice sites by an endonucleolytic mechanism, followed by ligation of the exons. |
15 homologous proteins in AiPD
UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
---|---|---|---|---|
Q0IIK5 | DDX1 | ATP-dependent RNA helicase DDX1 | Bos taurus (Bovine) | PR |
Q90WU3 | DDX1 | ATP-dependent RNA helicase DDX1 | Gallus gallus (Chicken) | PR |
Q8NHQ9 | DDX55 | ATP-dependent RNA helicase DDX55 | Homo sapiens (Human) | PR |
P60842 | EIF4A1 | Eukaryotic initiation factor 4A-I | Homo sapiens (Human) | PR |
Q14240 | EIF4A2 | Eukaryotic initiation factor 4A-II | Homo sapiens (Human) | PR |
Q9Y6V7 | DDX49 | Probable ATP-dependent RNA helicase DDX49 | Homo sapiens (Human) | PR |
Q9H0S4 | DDX47 | Probable ATP-dependent RNA helicase DDX47 | Homo sapiens (Human) | PR |
Q8TDD1 | DDX54 | ATP-dependent RNA helicase DDX54 | Homo sapiens (Human) | PR |
Q9GZR7 | DDX24 | ATP-dependent RNA helicase DDX24 | Homo sapiens (Human) | PR |
Q9NY93 | DDX56 | Probable ATP-dependent RNA helicase DDX56 | Homo sapiens (Human) | PR |
Q9NUL7 | DDX28 | Probable ATP-dependent RNA helicase DDX28 | Homo sapiens (Human) | PR |
Q7L014 | DDX46 | Probable ATP-dependent RNA helicase DDX46 | Homo sapiens (Human) | PR |
Q91VR5 | Ddx1 | ATP-dependent RNA helicase DDX1 | Mus musculus (Mouse) | PR |
Q641Y8 | Ddx1 | ATP-dependent RNA helicase DDX1 | Rattus norvegicus (Rat) | PR |
Q5XH91 | ddx1 | ATP-dependent RNA helicase DDX1 | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | PR |
10 | 20 | 30 | 40 | 50 | 60 |
MAAFSEMGVM | PEIAQAVEEM | DWLLPTDIQA | ESIPLILGGG | DVLMAAETGS | GKTGAFSIPV |
70 | 80 | 90 | 100 | 110 | 120 |
IQIVYETLKD | QQEGKKGKTT | IKTGASVLNK | WQMNPYDRGS | AFAIGSDGLC | CQSREVKEWH |
130 | 140 | 150 | 160 | 170 | 180 |
GCRATKGLMK | GKHYYEVSCH | DQGLCRVGWS | TMQASLDLGT | DKFGFGFGGT | GKKSHNKQFD |
190 | 200 | 210 | 220 | 230 | 240 |
NYGEEFTMHD | TIGCYLDIDK | GHVKFSKNGK | DLGLAFEIPP | HMKNQALFPA | CVLKNAELKF |
250 | 260 | 270 | 280 | 290 | 300 |
NFGEEEFKFP | PKDGFVALSK | APDGYIVKSQ | HSGNAQVTQT | KFLPNAPKAL | IVEPSRELAE |
310 | 320 | 330 | 340 | 350 | 360 |
QTLNNIKQFK | KYIDNPKLRE | LLIIGGVAAR | DQLSVLENGV | DIVVGTPGRL | DDLVSTGKLN |
370 | 380 | 390 | 400 | 410 | 420 |
LSQVRFLVLD | EADGLLSQGY | SDFINRMHNQ | IPQVTSDGKR | LQVIVCSATL | HSFDVKKLSE |
430 | 440 | 450 | 460 | 470 | 480 |
KIMHFPTWVD | LKGEDSVPDT | VHHVVVPVNP | KTDRLWERLG | KSHIRTDDVH | AKDNTRPGAN |
490 | 500 | 510 | 520 | 530 | 540 |
SPEMWSEAIK | ILKGEYAVRA | IKEHKMDQAI | IFCRTKIDCD | NLEQYFIQQG | GGPDKKGHQF |
550 | 560 | 570 | 580 | 590 | 600 |
SCVCLHGDRK | PHERKQNLER | FKKGDVRFLI | CTDVAARGID | IHGVPYVINV | TLPDEKQNYV |
610 | 620 | 630 | 640 | 650 | 660 |
HRIGRVGRAE | RMGLAISLVA | TEKEKVWYHV | CSSRGKGCYN | TRLKEDGGCT | IWYNEMQLLS |
670 | 680 | 690 | 700 | 710 | 720 |
EIEEHLNCTI | SQVEPDIKVP | VDEFDGKVTY | GQKRAAGGGS | YKGHVDILAP | TVQELAALEK |
730 | |||||
EAQTSFLHLG | YLPNQLFRTF |