Q8NHQ9
PR
Gene name |
DDX55 (KIAA1595) |
Protein name |
ATP-dependent RNA helicase DDX55 |
Names |
DEAD box protein 55 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:57696 |
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
1 structures for Q8NHQ9
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q8NHQ9-F1 | Predicted | AlphaFoldDB |
512 variants for Q8NHQ9
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA6859271 rs749242015 |
2 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs879320955 CA245137063 |
2 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs953616755 CA245137051 |
2 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs370700497 CA387134364 |
3 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs768618106 CA6859272 |
3 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs748271856 CA6859274 |
4 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA387134378 rs1380439247 |
5 | T>A | No |
ClinGen TOPMed |
|
|
CA245137084 rs922339543 |
5 | T>I | No |
ClinGen gnomAD |
|
|
CA387134384 rs922339543 |
5 | T>R | No |
ClinGen gnomAD |
|
|
CA387134380 rs1380439247 |
5 | T>S | No |
ClinGen TOPMed |
|
|
CA387134388 rs1469718015 |
6 | E>K | No |
ClinGen gnomAD |
|
|
rs1231778659 CA387134406 |
7 | G>A | No |
ClinGen gnomAD |
|
|
CA387134404 rs1202361161 |
7 | G>C | No |
ClinGen gnomAD |
|
|
rs1415266334 CA387134417 |
9 | W>* | No |
ClinGen gnomAD |
|
|
rs1566174823 CA387134421 |
9 | W>C | No |
ClinGen Ensembl |
|
|
CA387134429 rs1475084351 |
10 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA245137141 rs866850023 |
12 | L>M | No |
ClinGen Ensembl |
|
|
CA6859276 rs375119897 |
13 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA387134443 rs1408650509 |
13 | P>T | No |
ClinGen gnomAD |
|
|
rs141195308 CA6859277 |
14 | V>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA387134456 rs1311282666 |
15 | P>L | No |
ClinGen gnomAD |
|
|
rs145066054 CA6859280 |
16 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs765740381 CA387134473 |
18 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs765740381 CA6859281 |
18 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
rs80107514 CA245137182 |
20 | V>L | No |
ClinGen Ensembl |
|
|
rs1272264843 CA387134497 |
22 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA387134503 rs1307535145 |
23 | A>V | No |
ClinGen gnomAD |
|
|
rs866589622 CA245137183 |
25 | R>L | No |
ClinGen Ensembl |
|
|
rs866589622 CA387134511 |
25 | R>P | No |
ClinGen Ensembl |
|
|
CA387134514 rs1244872472 |
26 | E>Q | No |
ClinGen TOPMed |
|
|
rs1485108670 CA387134522 |
27 | L>V | No |
ClinGen gnomAD |
|
|
CA245137186 rs937806191 |
30 | P>L | No |
ClinGen Ensembl |
|
|
rs1260003381 CA387134548 |
31 | Y>S | No |
ClinGen TOPMed gnomAD |
|
|
rs574384721 CA6859284 |
32 | M>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs753104456 CA6859283 |
32 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6859285 rs766956658 |
34 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1411715870 CA387134566 |
34 | P>S | No |
ClinGen gnomAD |
|
|
CA6859286 rs750080087 |
35 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA6859287 rs755750847 |
36 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs868517878 CA245137200 |
36 | Q>K | No |
ClinGen Ensembl |
|
|
CA6859323 rs769120690 |
38 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763501256 CA387135022 |
38 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763501256 COSM936459 CA6859322 |
38 | A>T | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs760257431 CA6859325 |
39 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA6859324 rs774800840 |
39 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA387135112 rs1248461926 |
41 | P>L | No |
ClinGen gnomAD |
|
|
CA387135156 rs1437835507 |
43 | F>L | No |
ClinGen TOPMed |
|
|
CA245142591 rs112440158 |
43 | F>S | No |
ClinGen Ensembl |
|
|
CA6859327 rs753536419 |
44 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs367561255 CA6859329 |
45 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs931264383 CA245142644 |
45 | R>Q | No |
ClinGen Ensembl |
|
|
CA6859330 rs752513603 |
47 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387135260 rs752513603 |
47 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1416900459 CA387135303 |
49 | V>I | No |
ClinGen gnomAD |
|
|
CA387135336 rs777882464 |
50 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777882464 CA6859332 |
50 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA387135373 rs1593672824 |
51 | A>V | No |
ClinGen Ensembl |
|
|
CA387135390 rs1190448544 |
52 | E>G | No |
ClinGen TOPMed |
|
|
CA6859333 rs751491547 |
52 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs201126940 CA6859334 |
53 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA387135553 rs1424191440 |
55 | T>R | No |
ClinGen TOPMed |
|
| TCGA novel | 56 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1045665944 CA245142854 |
58 | G>D | No |
ClinGen TOPMed |
|
|
rs1593673880 CA387135620 |
59 | K>Q | No |
ClinGen Ensembl |
|
|
COSM1359756 CA6859357 rs116143975 |
62 | A>T | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs767693727 CA6859358 |
63 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs750439210 CA6859359 |
63 | F>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 64 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1210412284 CA387135724 COSM3980864 |
66 | P>A | ovary [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs138269355 CA6859362 |
69 | E>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA387135767 rs1483452198 |
69 | E>K | No |
ClinGen gnomAD |
|
|
CA387135795 rs1198318055 |
70 | I>T | No |
ClinGen TOPMed |
|
|
rs755342549 CA6859363 |
71 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779248003 CA6859366 |
72 | L>Q | No |
ClinGen ExAC |
|
|
rs892882894 CA245142950 |
73 | R>* | No |
ClinGen Ensembl |
|
|
CA6859369 rs776240783 |
75 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748750646 CA6859367 |
75 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs772440374 CA6859368 |
75 | E>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 76 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6859370 rs745398122 |
76 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA6859374 rs775293345 |
78 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs116717261 CA6859371 |
78 | L>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1566181126 CA387135920 |
78 | L>S | No |
ClinGen Ensembl |
|
|
rs368408656 CA6859375 |
79 | K>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA6859377 rs774003506 |
80 | K>N | No |
ClinGen ExAC gnomAD |
|
| rs762423517 | 81 | S>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs970151108 CA245143027 |
82 | Q>P | No |
ClinGen Ensembl |
|
|
CA6859394 rs749005609 |
83 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 86 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6859396 rs774015411 |
87 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs761535916 CA6859397 |
89 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1372645678 CA387136512 |
90 | P>L | No |
ClinGen TOPMed |
|
|
CA387136510 rs1372645678 |
90 | P>R | No |
ClinGen TOPMed |
|
|
CA6859399 rs773030147 |
91 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA6859400 rs80215100 |
91 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6859401 rs766507170 |
92 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA6859403 rs753896710 |
92 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6859402 rs753896710 |
92 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765405824 CA6859404 |
94 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752912823 CA6859405 |
95 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1249455198 CA387136558 |
95 | A>V | No |
ClinGen gnomAD |
|
|
CA6859406 rs374969518 |
96 | I>M | No |
ClinGen ESP ExAC gnomAD |
|
|
CA387136561 rs1346624065 |
96 | I>V | No |
ClinGen TOPMed |
|
|
CA387136576 rs1159332316 |
97 | Q>P | No |
ClinGen TOPMed |
|
|
CA387136595 rs1250400900 |
98 | I>M | No |
ClinGen Ensembl |
|
|
rs201842459 CA245144188 |
98 | I>T | No |
ClinGen gnomAD |
|
|
CA6859408 rs752178019 |
99 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1351655990 CA387136610 |
100 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1183341508 CA387136628 |
101 | V>A | No |
ClinGen TOPMed |
|
|
rs17881657 CA6859410 VAR_027789 |
101 | V>L | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA6859411 rs373488429 |
103 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA387136653 rs1289935178 |
104 | H>Y | No |
ClinGen gnomAD |
|
|
rs778444738 CA387136684 |
106 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387136686 rs778444738 |
106 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778444738 CA6859413 |
106 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771831779 CA6859415 |
107 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs773049141 CA6859417 |
108 | H>D | No |
ClinGen ExAC gnomAD |
|
|
CA6859416 rs773049141 |
108 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA387136725 rs1250271717 |
109 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1183924169 CA387136733 |
110 | P>R | No |
ClinGen gnomAD |
|
|
CA387136729 rs1483145368 |
110 | P>S | No |
ClinGen gnomAD |
|
|
rs759637997 CA6859420 |
111 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA245144241 rs953839451 |
111 | E>V | No |
ClinGen TOPMed |
|
|
CA6859422 rs752869604 |
113 | S>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 116 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763134643 CA6859441 |
116 | L>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 117 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA387136861 rs1224848015 |
117 | W>G | No |
ClinGen TOPMed |
|
|
rs373251266 CA245144428 |
118 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA245144440 rs200057596 |
119 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA245144441 rs376236187 |
122 | N>S | No |
ClinGen ESP gnomAD |
|
|
rs1309098329 CA387136963 |
124 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1296833026 CA387136973 |
125 | E>G | No |
ClinGen gnomAD |
|
| TCGA novel | 126 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762282042 CA6859444 |
127 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1361497226 CA387137010 |
128 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA387137026 rs1230046499 |
129 | R>K | No |
ClinGen gnomAD |
|
|
rs983909521 CA245144475 |
133 | Q>K | No |
ClinGen Ensembl |
|
|
CA387137086 rs1184070567 |
133 | Q>L | No |
ClinGen TOPMed |
|
|
rs1266709875 CA387137124 |
135 | G>A | No |
ClinGen gnomAD |
|
|
CA6859462 rs762120757 |
135 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs115830402 CA245145129 |
136 | N>K | No |
ClinGen 1000Genomes TOPMed |
|
| TCGA novel | 136 | N>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1201251167 CA387137144 |
138 | I>T | No |
ClinGen gnomAD |
|
|
rs768049607 CA6859463 |
139 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1231448600 CA387137149 |
139 | V>L | No |
ClinGen gnomAD |
|
| TCGA novel | 140 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs773686445 CA6859464 |
141 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA6859465 rs761122920 |
143 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs753131316 CA6859466 |
144 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6859467 rs780395630 |
144 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs753131316 CA387137174 |
144 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs17856854 CA245145192 |
148 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6859468 rs17856854 |
148 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1333558891 CA387137213 |
149 | F>C | No |
ClinGen gnomAD |
|
|
rs200518654 CA6859469 |
150 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368605233 CA245145193 |
150 | R>W | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs756893017 CA6859471 |
153 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745645614 CA387137240 |
154 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA245145220 VAR_027790 rs17886035 |
154 | E>G | No |
ClinGen UniProt Ensembl dbSNP |
|
|
CA6859473 rs745645614 |
154 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387137249 rs1211778419 |
155 | G>V | No |
ClinGen gnomAD |
|
|
rs755825356 CA6859474 |
158 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA6859476 rs780054220 |
161 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749112253 CA6859477 COSM168622 |
163 | R>* | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA245145236 rs955008910 |
163 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA387137300 rs768921899 |
164 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs768921899 CA6859478 |
164 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1289047831 CA387137304 |
164 | S>Y | No |
ClinGen TOPMed |
|
|
rs867742770 CA245145239 |
168 | L>M | No |
ClinGen Ensembl |
|
|
CA6859479 rs145062412 |
171 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200766388 CA245145254 |
173 | A>V | No |
ClinGen 1000Genomes |
|
| TCGA novel | 174 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs772389709 CA6859481 |
176 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA6859482 rs773263398 |
178 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs1197178550 CA387137463 |
179 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
CA6859484 rs141234230 |
181 | F>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6859485 rs141234230 |
181 | F>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA387137492 rs760034545 |
182 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6859486 rs760034545 |
182 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755696941 CA6859487 |
183 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6859500 rs779171387 |
187 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs748267341 CA6859501 |
188 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs772227152 CA6859503 |
195 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs925083409 CA245146037 |
195 | Q>R | No |
ClinGen TOPMed |
|
|
CA6859504 rs747138630 |
197 | R>S | No |
ClinGen ExAC gnomAD |
|
|
COSM1492781 rs1202085925 CA387138798 |
199 | G>D | kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs763323997 CA245146045 |
203 | A>V | No |
ClinGen Ensembl |
|
|
rs1246175767 CA387138859 |
205 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
CA6859505 rs771397093 |
205 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
rs371753932 COSM244001 CA6859506 |
206 | T>M | prostate [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA387138935 rs1174949795 |
209 | V>M | No |
ClinGen gnomAD |
|
|
CA6859509 rs775937700 |
210 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA387139019 rs1162079917 |
213 | V>L | No |
ClinGen gnomAD |
|
|
rs750156589 CA6859512 |
215 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA6859513 COSM936461 rs200245098 |
215 | A>V | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA6859515 rs144943860 |
218 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs766244307 CA6859514 |
218 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs754776365 CA6859516 |
219 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs754776365 CA6859517 |
219 | N>T | No |
ClinGen ExAC gnomAD |
|
|
rs764648878 CA387139174 |
222 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6859519 rs764648878 |
222 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs752619926 CA6859518 |
222 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387139231 rs1313319775 |
225 | V>A | No |
ClinGen TOPMed |
|
|
CA6859522 rs747316204 |
226 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1384934043 CA387139312 |
229 | G>D | No |
ClinGen gnomAD |
|
|
rs771038958 CA6859523 |
229 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371757133 CA6859525 |
230 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA387139375 rs1458192590 |
232 | A>V | No |
ClinGen gnomAD |
|
|
rs775990868 CA6859527 |
233 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387139381 rs1162052354 |
233 | S>R | No |
ClinGen gnomAD |
|
|
rs543559931 CA6859529 |
234 | S>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs749790019 CA6859528 |
234 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA6859530 rs772572773 |
235 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6859531 rs760414897 |
236 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs776371910 CA6859533 |
238 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs1229217236 CA387139521 |
239 | P>L | No |
ClinGen gnomAD |
|
|
rs377307791 CA6859534 |
239 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs765053628 CA6859535 |
241 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6859536 rs555685849 |
241 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA245146178 rs555685849 |
241 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs758259507 CA6859537 |
243 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758259507 CA387139584 |
243 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1380676353 CA387139597 |
244 | N>D | No |
ClinGen TOPMed |
|
|
rs1265532188 CA387139609 |
244 | N>S | No |
ClinGen gnomAD |
|
|
rs1435693100 CA387139622 |
245 | Y>H | No |
ClinGen TOPMed |
|
|
rs1257774956 CA387139643 |
246 | Y>H | No |
ClinGen TOPMed |
|
|
CA6859539 rs138867340 |
247 | M>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA245148324 rs565144643 |
249 | C>G | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA6859562 rs750700562 |
249 | C>W | No |
ClinGen ExAC gnomAD |
|
|
rs140634646 CA6859564 |
253 | E>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA245148364 rs186434033 |
259 | V>A | No |
ClinGen 1000Genomes |
|
|
CA245148371 rs143703504 |
261 | F>S | No |
ClinGen ESP |
|
|
rs148148585 CA6859568 COSM936462 |
263 | R>C | endometrium [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs141932661 CA6859569 |
263 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs141932661 CA6859570 |
263 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs148148585 CA245148379 |
263 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
VAR_027791 CA6859571 rs11057306 |
264 | N>S | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA387140154 rs1246744643 |
268 | E>D | No |
ClinGen Ensembl |
|
|
CA6859572 rs117200049 |
268 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA245148425 rs952707396 |
271 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1239777023 CA387140235 |
274 | F>L | No |
ClinGen gnomAD |
|
| rs139308305 | 275 | S>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs769381487 CA6859593 |
276 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs769381487 CA387141186 |
276 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs1455539696 CA387141199 |
277 | C>F | No |
ClinGen gnomAD |
|
|
rs1468269551 CA387141221 |
279 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
CA387141235 rs748903983 |
279 | C>W | No |
ClinGen ExAC gnomAD |
|
|
CA6859596 rs768403853 |
281 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs748627442 CA6859598 |
282 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs1330092058 CA387141284 |
283 | Y>C | No |
ClinGen gnomAD |
|
|
CA6859599 rs761696936 |
283 | Y>H | No |
ClinGen ExAC TOPMed |
|
|
CA387141291 rs1352266520 |
284 | G>R | No |
ClinGen TOPMed |
|
|
rs773084082 CA6859602 |
285 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs17852729 CA387141314 CA6859603 |
285 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1176211707 CA387141330 |
287 | L>P | No |
ClinGen TOPMed |
|
|
CA6859604 rs766377668 |
290 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs754070545 CA6859605 |
291 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387141368 rs1231283244 |
293 | G>V | No |
ClinGen TOPMed |
|
|
rs753078772 CA6859608 |
294 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387141381 rs1270739163 |
295 | K>N | No |
ClinGen gnomAD |
|
|
rs758798320 CA387141396 CA6859609 |
297 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1471513114 CA387141393 |
297 | M>T | No |
ClinGen gnomAD |
|
|
CA6859610 rs778449815 |
298 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs752057408 CA6859611 |
299 | I>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 301 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6859614 rs779612292 CA6859613 |
301 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1566196744 CA387141423 |
302 | K>E | No |
ClinGen Ensembl |
|
|
rs1361012231 CA387141427 |
302 | K>N | No |
ClinGen gnomAD |
|
|
rs754627470 CA6859615 |
302 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA387141439 rs1304633489 |
304 | K>E | No |
ClinGen gnomAD |
|
|
CA387141450 rs1318521082 |
305 | Y>C | No |
ClinGen TOPMed |
|
|
CA387141456 rs1369083207 |
306 | K>E | No |
ClinGen gnomAD |
|
|
rs778387510 CA6859616 |
307 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6859617 rs546194499 |
307 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1370666956 CA387141473 |
308 | N>K | No |
ClinGen TOPMed |
|
|
CA387141469 rs1405245387 |
308 | N>S | No |
ClinGen gnomAD |
|
|
CA387141480 rs1337990235 |
309 | K>N | No |
ClinGen gnomAD |
|
|
CA6859618 rs771794295 |
311 | F>C | No |
ClinGen ExAC gnomAD |
|
|
CA387141500 rs1224973568 |
312 | M>I | No |
ClinGen gnomAD |
|
|
rs371091632 CA6859620 |
312 | M>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA6859619 rs773135451 |
312 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771054400 CA6859621 |
315 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387141521 rs1481946540 |
315 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1593736589 CA387141584 |
322 | L>S | No |
ClinGen Ensembl |
|
|
rs371557116 CA6859638 |
324 | C>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA387141605 rs1341279213 |
325 | T>I | No |
ClinGen gnomAD |
|
|
rs747721763 CA6859639 |
327 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6859641 rs201680992 |
330 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs777529222 CA6859640 |
330 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA245150708 rs200409583 |
331 | G>R | No |
ClinGen 1000Genomes |
|
|
rs1399747383 CA387141639 |
331 | G>V | No |
ClinGen TOPMed |
|
|
rs367585107 CA245150726 |
332 | I>T | No |
ClinGen ESP gnomAD |
|
|
rs770873656 CA6859643 |
333 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA387141652 rs1305204027 |
333 | D>G | No |
ClinGen TOPMed |
|
|
CA6859645 rs776395838 |
338 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6859644 rs776395838 |
338 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387141719 rs775859697 |
343 | Y>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775859697 CA6859647 |
343 | Y>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6859648 rs763263840 |
345 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs951196525 CA245150756 |
347 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1593737165 CA387141775 |
348 | N>K | No |
ClinGen Ensembl |
|
|
rs372813534 CA6859649 |
350 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs147152712 CA6859666 |
350 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA387141790 rs1476712057 |
350 | S>R | No |
ClinGen TOPMed |
|
|
CA6859667 rs140288159 |
352 | F>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA6859668 rs769029985 |
353 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs774665177 CA6859669 |
355 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs879519365 CA245151477 |
355 | R>H | No |
ClinGen TOPMed |
|
|
CA6859671 rs772257167 |
357 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6859672 rs773832349 |
358 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761069639 CA6859673 |
358 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs761069639 CA387143323 |
358 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387143331 rs936331902 |
359 | T>I | No |
ClinGen TOPMed |
|
|
CA245151514 rs936331902 |
359 | T>R | No |
ClinGen TOPMed |
|
|
rs1481657176 CA387143345 |
361 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs375398824 CA6859675 |
361 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375398824 CA6859676 |
361 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6859678 COSM1605718 rs751158989 |
362 | I>T | liver [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA6859677 rs763760757 |
362 | I>V | No |
ClinGen ExAC gnomAD |
|
|
COSM936463 CA245151553 rs369457066 |
365 | G>R | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP NCI-TCGA TOPMed gnomAD |
|
rs369457066 CA387143391 |
365 | G>W | No |
ClinGen ESP TOPMed gnomAD |
|
| TCGA novel | 366 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA387143403 rs1304029742 |
366 | G>D | No |
ClinGen gnomAD |
|
|
rs1457564975 CA387143397 |
366 | G>S | No |
ClinGen gnomAD |
|
|
CA245151554 rs916500018 |
368 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs916500018 CA387143423 |
368 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs755985173 CA6859682 |
371 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1344555459 CA387143497 |
374 | P>L | No |
ClinGen TOPMed |
|
|
CA245151566 rs1054057907 |
374 | P>S | No |
ClinGen TOPMed |
|
|
rs1319454087 CA387143504 |
375 | M>T | No |
ClinGen gnomAD |
|
|
rs780322216 CA6859683 |
375 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1278341512 CA387143526 |
377 | E>K | No |
ClinGen TOPMed |
|
|
CA387143532 rs1242405061 |
377 | E>V | No |
ClinGen TOPMed |
|
|
CA387143547 rs1354391651 |
378 | S>* | No |
ClinGen TOPMed |
|
|
CA6859686 rs768796871 |
380 | I>S | No |
ClinGen ExAC gnomAD |
|
|
CA6859687 rs779281786 |
381 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs893634622 CA245151595 |
384 | A>E | No |
ClinGen TOPMed |
|
|
CA387143647 rs748310118 |
385 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs748310118 CA6859688 |
385 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs748310118 CA387143646 |
385 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs772541093 CA6859689 |
386 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs528874463 CA6859690 |
388 | K>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs142597900 CA6859763 |
389 | C>Y | No |
ClinGen ESP ExAC TOPMed |
|
|
CA6859764 rs771539482 |
390 | P>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 391 | L>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 392 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs957506514 CA245152610 |
393 | E>V | No |
ClinGen TOPMed |
|
|
CA6859766 rs777314923 CA387143920 |
394 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1383669548 CA387143919 |
394 | M>R | No |
ClinGen gnomAD |
|
|
rs1341984287 CA387143913 |
394 | M>V | No |
ClinGen TOPMed |
|
|
CA387143925 rs1295749400 |
395 | K>Q | No |
ClinGen gnomAD |
|
|
CA6859767 rs746695617 |
397 | Q>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1413746467 CA387144000 |
400 | T>I | No |
ClinGen TOPMed |
|
|
CA6859769 rs201387635 |
401 | A>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA387144008 rs1373118640 |
401 | A>P | No |
ClinGen TOPMed |
|
|
rs201387635 CA6859768 |
401 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA387144033 rs759419873 |
403 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759419873 CA6859770 |
403 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1188946739 CA387144069 |
406 | K>Q | No |
ClinGen TOPMed |
|
|
rs1461425572 CA387144087 |
407 | L>H | No |
ClinGen gnomAD |
|
|
rs151012201 CA245152643 |
408 | K>N | No |
ClinGen ESP TOPMed |
|
|
CA387144119 rs775360332 |
410 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs973313247 CA245152652 |
410 | M>T | No |
ClinGen gnomAD |
|
|
CA6859772 rs775360332 |
410 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199894993 CA6859773 |
411 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6859774 rs764130306 |
412 | L>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 417 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs911820625 CA245152704 |
418 | F>S | No |
ClinGen TOPMed |
|
|
CA6859778 rs767751791 |
421 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA387144227 rs767751791 |
421 | G>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 423 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA387144264 rs1384469630 |
426 | V>L | No |
ClinGen gnomAD |
|
|
CA245152715 rs1013410551 |
428 | Y>H | No |
ClinGen Ensembl |
|
|
rs370933350 CA6859779 |
430 | Q>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6859781 rs375169104 |
431 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6859783 rs577563604 |
432 | Y>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA245152742 rs974628709 |
435 | H>R | No |
ClinGen TOPMed |
|
|
rs1593758510 CA387144354 |
435 | H>Y | No |
ClinGen Ensembl |
|
|
rs779517953 CA6859784 |
437 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387144391 rs1593758589 |
438 | N>H | No |
ClinGen Ensembl |
|
|
CA387144408 rs746538098 |
439 | L>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA6859785 rs746538098 |
439 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
CA245152765 rs200626783 |
441 | F>S | No |
ClinGen 1000Genomes |
|
|
CA387144445 rs1258452872 |
442 | R>I | No |
ClinGen gnomAD |
|
|
CA6859786 rs770506155 |
443 | L>* | No |
ClinGen ExAC gnomAD |
|
|
rs755245012 CA6859808 |
445 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA245153266 rs901793147 |
446 | L>I | No |
ClinGen TOPMed |
|
|
rs1356872509 CA387144599 |
448 | F>L | No |
ClinGen TOPMed |
|
|
CA6859810 rs765850163 |
448 | F>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 449 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6859811 rs143479625 CA387144621 |
450 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1171281629 CA387144624 |
451 | L>F | No |
ClinGen TOPMed |
|
|
CA387144632 rs1455680276 |
452 | A>V | No |
ClinGen TOPMed |
|
|
CA387144635 rs1391397108 |
453 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1391397108 CA387144634 |
453 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA6859813 rs780839350 COSM936464 |
453 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA387144638 rs1356776708 |
454 | G>S | No |
ClinGen gnomAD |
|
|
CA387144659 rs745561082 |
457 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1203034762 CA387144666 |
458 | L>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA387144674 rs1188727111 |
459 | R>S | No |
ClinGen TOPMed |
|
|
rs1251181705 CA387144675 |
460 | M>V | No |
ClinGen gnomAD |
|
|
CA6859816 rs779533198 |
461 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 462 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6859817 rs749131679 |
462 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA387144767 rs1184488756 |
466 | L>F | No |
ClinGen gnomAD |
|
|
rs774337286 CA6859819 |
467 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs538355948 CA6859820 |
468 | G>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6859822 rs773243966 |
469 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs140490533 CA6859823 |
470 | Q>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA245153342 rs150436022 |
471 | F>L | No |
ClinGen ESP |
|
|
rs766642989 CA6859825 |
471 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA245153355 rs367774179 |
473 | D>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1380005008 CA387144875 |
475 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1380005008 CA387144874 |
475 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA387144886 rs1451448329 |
476 | P>A | No |
ClinGen gnomAD |
|
|
CA6859827 rs145230532 |
477 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 478 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1011673801 CA245153388 |
479 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
CA245153382 rs1011673801 |
479 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA6859829 rs753318053 |
482 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA245153423 rs1006134242 |
483 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA6859833 rs755531417 |
486 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1245122023 CA387145097 |
488 | D>E | No |
ClinGen gnomAD |
|
| TCGA novel | 488 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1235755322 CA387145121 |
490 | I>L | No |
ClinGen TOPMed |
|
|
rs1195306772 CA387145900 |
492 | E>Q | No |
ClinGen TOPMed |
|
|
rs779772073 CA6859834 |
496 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA6859835 rs748827186 |
497 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6859837 rs202238608 |
500 | E>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1336603070 CA387146014 |
501 | Q>E | No |
ClinGen TOPMed |
|
|
rs1273432722 CA387146033 |
502 | Q>R | No |
ClinGen TOPMed |
|
|
rs1445041380 CA387146051 |
503 | R>K | No |
ClinGen gnomAD |
|
|
CA387146061 rs1267367010 |
504 | R>G | No |
ClinGen gnomAD |
|
|
rs1230342202 CA387146077 |
505 | E>Q | No |
ClinGen TOPMed |
|
|
CA387146158 rs1320397377 |
510 | E>V | No |
ClinGen TOPMed |
|
| TCGA novel | 512 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1269943145 CA387146177 |
512 | R>G | No |
ClinGen gnomAD |
|
|
CA6859841 rs772023591 |
512 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs1002670964 CA245153476 |
512 | R>S | No |
ClinGen TOPMed |
|
| TCGA novel | 513 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs961632463 CA245153481 |
515 | F>I | No |
ClinGen Ensembl |
|
|
rs777521976 CA245153486 |
516 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747124116 CA6859844 |
516 | I>R | No |
ClinGen ExAC |
|
|
CA6859842 rs777521976 |
516 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6859845 rs573218790 |
520 | A>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1224137517 CA387146303 |
521 | W>* | No |
ClinGen gnomAD |
|
|
CA245153495 rs112412459 |
522 | S>P | No |
ClinGen Ensembl |
|
|
CA6859846 rs776981489 |
524 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387146349 rs1411774930 |
524 | Q>H | No |
ClinGen TOPMed |
|
|
rs759665957 CA387146346 |
524 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759665957 CA6859847 |
524 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6859848 rs770332600 |
525 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs760942599 CA6859850 |
525 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775965983 CA6859849 |
525 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA387146363 rs1475736325 |
526 | A>T | No |
ClinGen TOPMed |
|
|
CA245153523 rs201079561 |
529 | E>K | No |
ClinGen gnomAD |
|
|
COSM936466 rs764724274 CA6859855 CA387146433 |
530 | K>N | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD NCI-TCGA |
|
CA245153524 rs930373290 |
530 | K>T | No |
ClinGen Ensembl |
|
|
rs377093176 CA6859856 |
533 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs760239361 CA6859857 |
534 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387146484 rs1220421723 |
534 | M>L | No |
ClinGen TOPMed |
|
|
CA387146512 rs1195886738 |
536 | E>K | No |
ClinGen TOPMed |
|
|
rs1276666483 CA387146543 |
538 | R>T | No |
ClinGen gnomAD |
|
|
CA245153553 rs753572498 |
542 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1223427952 CA387146575 |
542 | E>D | No |
ClinGen gnomAD |
|
|
CA6859859 rs753572498 |
542 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387146591 rs1210351693 |
543 | G>R | No |
ClinGen gnomAD |
|
|
CA387146613 rs1291853590 |
545 | D>H | No |
ClinGen gnomAD |
|
|
rs867403314 CA245153825 |
546 | I>M | No |
ClinGen Ensembl |
|
|
rs768839302 CA6859876 |
546 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762201951 CA6859878 |
549 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA387146706 rs1181432017 |
551 | M>T | No |
ClinGen gnomAD |
|
|
rs765951123 CA6859879 |
551 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6859880 rs753315467 |
552 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1425619441 CA387146730 |
553 | E>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA387146740 rs1302211997 |
553 | E>D | No |
ClinGen TOPMed |
|
|
CA245153849 rs79138273 |
555 | L>I | No |
ClinGen Ensembl |
|
|
VAR_027792 CA6859882 rs10773019 |
556 | N>S | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA387146778 rs200607736 |
557 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
CA245153854 rs200607736 |
557 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1402615834 CA387146802 |
558 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA387146799 rs1402615834 |
558 | T>K | No |
ClinGen TOPMed gnomAD |
|
|
CA387146793 rs1329591803 |
558 | T>P | No |
ClinGen gnomAD |
|
|
rs1402615834 CA387146800 |
558 | T>R | No |
ClinGen TOPMed gnomAD |
|
|
CA245153858 rs541267312 |
559 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA6859883 rs764883067 |
559 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1566208906 CA387146872 |
566 | K>E | No |
ClinGen Ensembl |
|
|
CA6859889 rs554681317 |
567 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1566208988 CA387146907 |
571 | E>A | No |
ClinGen Ensembl |
|
|
rs751566159 CA6859890 |
571 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs546725129 CA6859891 |
572 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1242083356 CA387146920 |
573 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
CA6859892 rs571362115 |
573 | E>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA387146919 rs1242083356 |
573 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
COSM1188650 rs745971715 CA6859893 |
575 | E>A | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs965577416 CA245153935 |
575 | E>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
| TCGA novel | 576 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA387146949 rs1475363487 |
577 | G>R | No |
ClinGen gnomAD |
|
|
rs769110899 CA6859898 |
582 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA6859899 rs774546102 |
583 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA245153959 rs199668259 |
584 | R>G | No |
ClinGen 1000Genomes |
|
|
COSM1203279 CA387146995 rs1398036704 |
584 | R>I | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA6859901 rs143318321 |
586 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs550255976 CA245153977 |
587 | K>E | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
| TCGA novel | 587 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA387147013 rs1327527304 |
587 | K>R | No |
ClinGen TOPMed |
|
|
CA6859906 rs759051022 |
596 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs143358259 CA6859907 |
598 | D>G | No |
ClinGen ESP ExAC gnomAD |
|
|
rs17856855 CA245154051 |
599 | D>G | No |
ClinGen Ensembl |
|
|
rs775178907 CA6859908 |
599 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1449265274 CA387147109 |
600 | C>R | No |
ClinGen TOPMed |
No associated diseases with Q8NHQ9
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 | |
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| 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. |
| nucleolus | A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
4 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. |
| RNA binding | Binding to an RNA molecule or a portion thereof. |
| RNA helicase activity | Unwinding of an RNA helix, driven by ATP hydrolysis. |
No GO annotations of biological process
| Name | Definition |
|---|---|
| No GO annotations for biological process |
27 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q2NL08 | DDX55 | ATP-dependent RNA helicase DDX55 | Bos taurus (Bovine) | PR |
| Q5ZLN8 | DDX55 | ATP-dependent RNA helicase DDX55 | Gallus gallus (Chicken) | PR |
| P17844 | DDX5 | Probable ATP-dependent RNA helicase DDX5 | 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 |
| Q92499 | DDX1 | ATP-dependent RNA helicase DDX1 | 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 |
| Q99MJ9 | Ddx50 | ATP-dependent RNA helicase DDX50 | Mus musculus (Mouse) | PR |
| Q61656 | Ddx5 | Probable ATP-dependent RNA helicase DDX5 | Mus musculus (Mouse) | PR |
| Q501J6 | Ddx17 | Probable ATP-dependent RNA helicase DDX17 | Mus musculus (Mouse) | PR |
| Q6ZPL9 | Ddx55 | ATP-dependent RNA helicase DDX55 | Mus musculus (Mouse) | PR |
| Q5QMN3 | Os01g0197200 | DEAD-box ATP-dependent RNA helicase 20 | Oryza sativa subsp japonica (Rice) | PR |
| Q5N7W4 | Os01g0911100 | DEAD-box ATP-dependent RNA helicase 30 | Oryza sativa subsp japonica (Rice) | PR |
| Q0E2Z7 | Os02g0201900 | DEAD-box ATP-dependent RNA helicase 41 | Oryza sativa subsp japonica (Rice) | PR |
| P34640 | ZK512.2 | Probable ATP-dependent RNA helicase DDX55 homolog | Caenorhabditis elegans | PR |
| Q9C718 | RH20 | DEAD-box ATP-dependent RNA helicase 20 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q8H136 | RH14 | DEAD-box ATP-dependent RNA helicase 14 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q56X76 | RH39 | DEAD-box ATP-dependent RNA helicase 39 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q8W4R3 | RH30 | DEAD-box ATP-dependent RNA helicase 30 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9FVV4 | RH55 | DEAD-box ATP-dependent RNA helicase 55 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q8JHJ2 | ddx55 | ATP-dependent RNA helicase DDX55 | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MEHVTEGSWE | SLPVPLHPQV | LGALRELGFP | YMTPVQSATI | PLFMRNKDVA | AEAVTGSGKT |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LAFVIPILEI | LLRREEKLKK | SQVGAIIITP | TRELAIQIDE | VLSHFTKHFP | EFSQILWIGG |
| 130 | 140 | 150 | 160 | 170 | 180 |
| RNPGEDVERF | KQQGGNIIVA | TPGRLEDMFR | RKAEGLDLAS | CVRSLDVLVL | DEADRLLDMG |
| 190 | 200 | 210 | 220 | 230 | 240 |
| FEASINTILE | FLPKQRRTGL | FSATQTQEVE | NLVRAGLRNP | VRVSVKEKGV | AASSAQKTPS |
| 250 | 260 | 270 | 280 | 290 | 300 |
| RLENYYMVCK | ADEKFNQLVH | FLRNHKQEKH | LVFFSTCACV | EYYGKALEVL | VKGVKIMCIH |
| 310 | 320 | 330 | 340 | 350 | 360 |
| GKMKYKRNKI | FMEFRKLQSG | ILVCTDVMAR | GIDIPEVNWV | LQYDPPSNAS | AFVHRCGRTA |
| 370 | 380 | 390 | 400 | 410 | 420 |
| RIGHGGSALV | FLLPMEESYI | NFLAINQKCP | LQEMKPQRNT | ADLLPKLKSM | ALADRAVFEK |
| 430 | 440 | 450 | 460 | 470 | 480 |
| GMKAFVSYVQ | AYAKHECNLI | FRLKDLDFAS | LARGFALLRM | PKMPELRGKQ | FPDFVPVDVN |
| 490 | 500 | 510 | 520 | 530 | 540 |
| TDTIPFKDKI | REKQRQKLLE | QQRREKTENE | GRRKFIKNKA | WSKQKAKKEK | KKKMNEKRKR |
| 550 | 560 | 570 | 580 | 590 | |
| EEGSDIEDED | MEELLNDTRL | LKKLKKGKIT | EEEFEKGLLT | TGKRTIKTVD | LGISDLEDDC |