Q9NQI0
SS
Gene name |
DDX4 (VASA) |
Protein name |
Probable ATP-dependent RNA helicase DDX4 |
Names |
EC 3.6.4.13 , DEAD box protein 4 , Vasa homolog |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:54514 |
EC number |
3.6.4.13: Acting on ATP; involved in cellular and subcellular movement |
Protein Class |
|
Descriptions
DEAD-box proteins utilize ATP to bind and remodel RNA and RNA-protein complexes. The Ded1/DDX3 subfamily of DEAD-box proteins is of particular interest as their function during protein translation, are essential for viability, and are frequently altered in human malignancies. <br>There is a unique interdomain interaction between the two ATPase domains (DEAD box helicase domain and helicase domain) in which the C-terminal helicase domain clashes with the RNA-binding surface. Destabilizing this interaction accelerates RNA duplex unwinding, suggesting that it is present in solution and inhibitory for catalysis. The N-terminal extension to the DEAD box helicase interacts with DEAD box helicase domain and C-terminal helicase domain, and stabilizes the autoinhibited state of DDX3X.
Autoinhibitory domains (AIDs)
Target domain |
312-490 (DEAD box helicase domain) |
Relief mechanism |
|
Assay |
|
Target domain |
514-675 (C-terminal helicase domain) |
Relief mechanism |
|
Assay |
|
Target domain |
312-490 (DEAD box helicase domain);514-675 (C-terminal helicase domain) |
Relief mechanism |
|
Assay |
|
Accessory elements
No accessory elements
References
- Floor SN et al. (2016) "Autoinhibitory Interdomain Interactions and Subfamily-specific Extensions Redefine the Catalytic Core of the Human DEAD-box Protein DDX3", The Journal of biological chemistry, 291, 2412-21
- Zhang ZM et al. (2013) "Crystal structure of Prp5p reveals interdomain interactions that impact spliceosome assembly", Cell reports, 5, 1269-78
Autoinhibited structure
Activated structure
1 structures for Q9NQI0
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9NQI0-F1 | Predicted | AlphaFoldDB |
620 variants for Q9NQI0
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| rs761350471 | 3 | D>E | No |
ExAC TOPMed gnomAD |
|
| rs200621381 | 4 | E>D | No |
1000Genomes ExAC gnomAD |
|
| rs1360433564 | 6 | W>R | No | gnomAD | |
| rs1401079937 | 7 | E>K | No | gnomAD | |
| rs773257485 | 8 | A>E | No |
ExAC TOPMed gnomAD |
|
| rs773257485 | 8 | A>V | No |
ExAC TOPMed gnomAD |
|
|
COSM3920209 COSM3920208 |
9 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs766129756 | 11 | N>S | No | ExAC | |
| COSM70419 | 11 | N>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs753587808 | 12 | P>R | No |
ExAC gnomAD |
|
| rs755202485 | 13 | H>R | No | ExAC | |
| rs1758839385 | 13 | H>Y | No | Ensembl | |
| rs1238056156 | 14 | M>I | No | gnomAD | |
| rs150364528 | 14 | M>R | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs765589244 | 14 | M>V | No |
ExAC gnomAD |
|
| rs778132035 | 17 | Y>C | No |
ExAC TOPMed gnomAD |
|
| rs1758840593 | 18 | V>D | No | Ensembl | |
| rs1217167821 | 18 | V>I | No | gnomAD | |
|
rs1758840706 TCGA novel |
19 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
| rs1021638624 | 20 | I>V | No | TOPMed | |
| rs1263791702 | 21 | F>V | No | gnomAD | |
| rs552617330 | 24 | D>A | No | TOPMed | |
| rs1759239690 | 24 | D>N | No | TOPMed | |
| rs552617330 | 24 | D>V | No | TOPMed | |
| rs1759240006 | 25 | R>G | No | TOPMed | |
| rs756525934 | 25 | R>T | No |
ExAC gnomAD |
|
| rs748413698 | 26 | Y>C | No | Ensembl | |
| rs992940475 | 27 | S>P | No | TOPMed | |
| rs1487847460 | 27 | S>Y | No |
TOPMed gnomAD |
|
| rs778530167 | 28 | G>E | No |
ExAC gnomAD |
|
| rs1271674528 | 29 | E>G | No | gnomAD | |
| rs146565989 | 30 | N>S | No |
ESP ExAC TOPMed gnomAD |
|
|
COSM1486825 COSM1486826 |
31 | G>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs771635664 | 31 | G>R | No |
ExAC TOPMed gnomAD |
|
| rs1424701523 | 33 | N>D | No | gnomAD | |
| rs777288263 | 36 | R>G | No |
ExAC TOPMed gnomAD |
|
| rs1458448551 | 38 | P>S | No | gnomAD | |
| rs868584994 | 39 | A>T | No |
TOPMed gnomAD |
|
| rs1759242346 | 41 | S>P | No | Ensembl | |
| rs770871592 | 42 | S>L | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 43 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs138008392 | 43 | E>G | No |
1000Genomes ExAC gnomAD |
|
| rs1316754814 | 44 | M>V | No | gnomAD | |
| rs1350800651 | 45 | D>G | No |
TOPMed gnomAD |
|
| rs1350800651 | 45 | D>V | No |
TOPMed gnomAD |
|
| COSM482903 | 46 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 50 | R>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs770286750 | 50 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs781277218 | 52 | D>E | No |
ExAC gnomAD |
|
| rs1319324417 | 52 | D>G | No | gnomAD | |
| rs745864810 | 53 | H>L | No |
ExAC gnomAD |
|
| rs1483786629 | 53 | H>Q | No | gnomAD | |
| rs1740433285 | 54 | F>C | No | TOPMed | |
|
COSM3920210 COSM3920211 |
55 | M>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1740433461 | 55 | M>T | No | Ensembl | |
| rs2111778172 | 56 | K>I | No | Ensembl | |
| rs1740433602 | 58 | G>R | No | Ensembl | |
| rs983867002 | 60 | A>G | No | Ensembl | |
| rs1740433751 | 60 | A>S | No | TOPMed | |
|
COSM449778 COSM1486827 rs1236610959 |
61 | S>F | Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD |
|
COSM6104535 COSM6104534 |
62 | G>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 62 | G>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs374755804 | 63 | R>Q | No |
ESP ExAC TOPMed gnomAD |
|
|
COSM3393614 COSM3393613 rs769838684 |
63 | R>W | pancreas [Cosmic] | No |
cosmic curated ExAC TOPMed gnomAD |
| rs768949179 | 64 | N>K | No |
ExAC gnomAD |
|
|
COSM4896747 COSM4896746 |
66 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1046751047 | 68 | R>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No | NCI-TCGA |
| rs774381753 | 68 | R>T | No |
ExAC gnomAD |
|
| rs1740439007 | 69 | D>N | No | gnomAD | |
| rs1740671981 | 70 | A>T | No | gnomAD | |
| rs764411818 | 72 | E>* | No | TOPMed | |
| rs1177641216 | 72 | E>A | No |
TOPMed gnomAD |
|
|
COSM6104532 COSM6104533 |
72 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs764411818 | 72 | E>K | No | TOPMed | |
| rs1740672992 | 73 | C>Y | No | TOPMed | |
| rs1433709104 | 74 | N>D | No | gnomAD | |
| rs1740673333 | 74 | N>S | No | Ensembl | |
| rs1237537655 | 75 | K>N | No |
TOPMed gnomAD |
|
| rs773321759 | 76 | R>Q | No |
ExAC TOPMed gnomAD |
|
| rs542420284 | 78 | N>D | No |
1000Genomes ExAC gnomAD |
|
|
rs1413762808 COSM319844 |
79 | T>A | lung [Cosmic] | No |
cosmic curated gnomAD |
| rs1740674833 | 80 | S>A | No | TOPMed | |
| TCGA novel | 81 | T>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1215340212 | 81 | T>P | No |
TOPMed gnomAD |
|
| rs766893586 | 81 | T>R | No |
ExAC gnomAD |
|
| rs375759934 | 82 | M>I | No |
ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 82 | M>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs759947201 | 82 | M>T | No |
ExAC gnomAD |
|
| rs202041209 | 82 | M>V | No |
1000Genomes ExAC TOPMed gnomAD |
|
|
COSM6104530 COSM6104531 |
83 | G>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs753089066 | 86 | G>R | No |
ExAC TOPMed gnomAD |
|
| rs1561488396 | 87 | V>L | No | gnomAD | |
| rs767243522 | 92 | G>V | No |
ExAC TOPMed gnomAD |
|
| rs1740677137 | 93 | N>D | No | Ensembl | |
| rs1474979572 | 93 | N>S | No | gnomAD | |
|
COSM3855651 COSM3855652 |
95 | G>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1426026471 | 98 | N>S | No | gnomAD | |
| rs146857595 | 99 | S>N | No |
ESP ExAC TOPMed gnomAD |
|
| rs149006597 | 100 | R>K | No |
ESP ExAC TOPMed gnomAD |
|
| rs1320756326 | 100 | R>S | No |
TOPMed gnomAD |
|
| rs530738566 | 103 | D>A | No |
1000Genomes ExAC gnomAD |
|
| rs530738566 | 103 | D>G | No |
1000Genomes ExAC gnomAD |
|
| rs750033606 | 104 | G>R | No |
ExAC TOPMed gnomAD |
|
|
rs1740734761 TCGA novel |
105 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
| rs1329168156 | 108 | G>C | No |
TOPMed gnomAD |
|
|
COSM1328756 COSM1328757 |
109 | F>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs760403218 | 109 | F>L | No |
ExAC gnomAD |
|
| rs1283763331 | 110 | W>C | No | gnomAD | |
| rs765865437 | 110 | W>R | No |
ExAC gnomAD |
|
| rs371259863 | 111 | R>K | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1169977598 | 112 | E>G | No | gnomAD | |
| rs754914430 | 112 | E>K | No |
ExAC gnomAD |
|
| rs1232291233 | 113 | S>A | No | TOPMed | |
| rs1232291233 | 113 | S>P | No | TOPMed | |
| rs1741022281 | 114 | S>R | No | Ensembl | |
| rs143793571 | 115 | N>Y | No |
ESP ExAC TOPMed gnomAD |
|
| rs1741022568 | 116 | D>G | No | TOPMed | |
| rs1741022904 | 117 | C>R | No | Ensembl | |
| rs777600910 | 117 | C>Y | No |
ExAC TOPMed gnomAD |
|
|
COSM1595408 COSM1595409 COSM1068940 rs757458025 |
118 | E>K | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| rs757458025 | 118 | E>Q | No |
ExAC TOPMed gnomAD |
|
| rs781432280 | 119 | D>G | No |
ExAC TOPMed gnomAD |
|
| rs956252606 | 119 | D>H | No | Ensembl | |
| rs1347108928 | 120 | N>D | No | gnomAD | |
| rs141132406 | 122 | T>A | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 123 | R>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs749870232 | 123 | R>P | No |
ExAC TOPMed gnomAD |
|
| rs749870232 | 123 | R>Q | No |
ExAC TOPMed gnomAD |
|
|
COSM1582657 rs374972771 COSM1582658 COSM1582656 |
123 | R>W | Variant assessed as Somatic; MODERATE impact. pancreas urinary_tract stomach [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs1580544393 | 124 | N>S | No | TOPMed | |
| rs1263108586 | 125 | R>K | No |
TOPMed gnomAD |
|
| rs570373422 | 125 | R>S | No |
TOPMed gnomAD |
|
| rs1263108586 | 125 | R>T | No |
TOPMed gnomAD |
|
| rs922782259 | 126 | G>E | No | Ensembl | |
| rs1223807784 | 126 | G>R | No | gnomAD | |
| rs1487493237 | 129 | K>E | No | gnomAD | |
| rs74473274 | 129 | K>R | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1741028838 | 131 | G>S | No | Ensembl | |
| rs1430463126 | 132 | G>S | No | gnomAD | |
| TCGA novel | 133 | Y>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs146937467 | 133 | Y>C | No |
ESP ExAC TOPMed gnomAD |
|
|
COSM3617097 COSM3617096 |
134 | R>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1308365474 | 134 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| TCGA novel | 135 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs773445328 | 137 | N>K | No |
ExAC TOPMed gnomAD |
|
| rs1741807217 | 138 | N>T | No | TOPMed | |
| rs2111970609 | 139 | S>L | No | Ensembl | |
| rs1245867842 | 142 | S>L | No | TOPMed | |
|
COSM3975584 rs137993034 COSM3975583 |
144 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ESP ExAC NCI-TCGA gnomAD |
| rs137993034 | 144 | P>Q | No |
ESP ExAC gnomAD |
|
| rs143562242 | 145 | Y>C | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1028834732 | 146 | R>G | No | Ensembl | |
| rs1408676830 | 146 | R>K | No | gnomAD | |
| rs774212584 | 146 | R>S | No |
ExAC gnomAD |
|
| COSM1150108 | 147 | R>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1741809438 | 148 | G>C | No | Ensembl | |
|
rs2306259 VAR_019574 |
148 | G>D | No |
UniProt 1000Genomes ExAC dbSNP gnomAD |
|
| rs1428352182 | 149 | G>R | No | gnomAD | |
| rs1741810020 | 150 | R>K | No | Ensembl | |
| rs1741810168 | 152 | S>G | No | gnomAD | |
| rs767407667 | 154 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
| rs147190735 | 155 | G>S | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs760999885 | 157 | R>C | No |
ExAC TOPMed gnomAD |
|
| rs760999885 | 157 | R>G | No |
ExAC TOPMed gnomAD |
|
| rs766670152 | 157 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs766670152 | 157 | R>P | No |
ExAC TOPMed gnomAD |
|
| rs753995409 | 158 | G>E | No |
ExAC gnomAD |
|
|
COSM1437911 COSM3947612 |
159 | G>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs370424369 | 159 | G>E | No |
ESP ExAC TOPMed gnomAD |
|
| rs370424369 | 159 | G>V | No |
ESP ExAC TOPMed gnomAD |
|
| rs1392315238 | 160 | F>I | No | TOPMed | |
| rs1225541174 | 161 | G>D | No |
TOPMed gnomAD |
|
| rs1225541174 | 161 | G>V | No |
TOPMed gnomAD |
|
| rs779568649 | 162 | L>R | No |
ExAC gnomAD |
|
| rs1423678872 | 163 | G>E | No | TOPMed | |
| rs1205389319 | 163 | G>R | No | gnomAD | |
| rs1170034630 | 166 | N>D | No | Ensembl | |
| rs1741881458 | 166 | N>I | No | TOPMed | |
| rs1339043230 | 168 | D>N | No |
TOPMed gnomAD |
|
| rs761862063 | 169 | L>S | No |
ExAC gnomAD |
|
| rs1741882192 | 171 | P>S | No | TOPMed | |
| rs375058012 | 172 | D>E | No |
ESP ExAC TOPMed gnomAD |
|
| rs771876612 | 172 | D>G | No |
ExAC gnomAD |
|
|
rs534079199 COSM280340 |
173 | E>K | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
| rs202112137 | 174 | C>R | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs202112137 | 174 | C>S | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs144989869 | 174 | C>Y | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1385095584 | 176 | Q>K | No |
TOPMed gnomAD |
|
| rs1741883562 | 176 | Q>R | No | TOPMed | |
| rs759832934 | 177 | R>C | No |
ExAC TOPMed gnomAD |
|
|
COSM1600304 COSM1600303 COSM1600302 rs765470784 |
177 | R>H | Variant assessed as Somatic; MODERATE impact. skin central_nervous_system [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| rs765470784 | 177 | R>L | No |
ExAC TOPMed gnomAD |
|
| rs1186753458 | 178 | T>I | No | gnomAD | |
| rs758982347 | 179 | G>C | No |
ExAC TOPMed gnomAD |
|
| rs1741884857 | 179 | G>D | No | Ensembl | |
| rs758982347 | 179 | G>S | No |
ExAC TOPMed gnomAD |
|
|
COSM1203255 COSM1203256 COSM1203254 |
180 | G>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1163467100 | 181 | L>V | No |
TOPMed gnomAD |
|
| rs1366783115 | 184 | S>F | No | gnomAD | |
| rs1316600362 | 185 | R>G | No |
TOPMed gnomAD |
|
| rs1741885697 | 185 | R>I | No | Ensembl | |
| rs148485105 | 187 | P>A | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs148485105 | 187 | P>T | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs779683152 | 188 | V>E | No |
ExAC TOPMed gnomAD |
|
| rs1580564352 | 190 | S>T | No | TOPMed | |
| rs371918153 | 192 | T>A | No |
ESP TOPMed gnomAD |
|
| rs1459653066 | 193 | G>D | No | gnomAD | |
| rs1741886845 | 193 | G>S | No |
TOPMed gnomAD |
|
| rs1459653066 | 193 | G>V | No | gnomAD | |
| rs1420480821 | 194 | N>H | No |
TOPMed gnomAD |
|
| rs778381490 | 195 | G>C | No |
ExAC gnomAD |
|
| rs1158894894 | 195 | G>D | No | Ensembl | |
|
COSM6171705 COSM6171707 COSM6171706 |
195 | G>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs747709464 | 198 | S>F | No |
ExAC gnomAD |
|
| rs777333297 | 199 | Q>E | No |
ExAC gnomAD |
|
| rs1741939840 | 200 | S>C | No | Ensembl | |
| rs747000246 | 201 | R>G | No |
ExAC TOPMed gnomAD |
|
| rs1470709623 | 201 | R>S | No | gnomAD | |
| rs1427643092 | 203 | G>D | No | gnomAD | |
| rs987029382 | 203 | G>S | No | TOPMed | |
| rs1741941392 | 204 | S>T | No | TOPMed | |
| rs1337661434 | 205 | G>E | No | gnomAD | |
| rs770970120 | 205 | G>R | No |
ExAC gnomAD |
|
| rs1404390780 | 206 | S>N | No | gnomAD | |
| rs776606902 | 208 | R>Q | No |
ExAC TOPMed gnomAD |
|
| rs773179185 | 209 | G>D | No | gnomAD | |
| rs773179185 | 209 | G>V | No | gnomAD | |
| rs1426906535 | 210 | G>D | No | gnomAD | |
| rs1742176529 | 210 | G>S | No | Ensembl | |
| rs1742176818 | 211 | Y>C | No | gnomAD | |
| rs774449788 | 212 | K>R | No |
ExAC gnomAD |
|
| rs761835357 | 213 | G>A | No | ExAC | |
| rs1373681882 | 216 | E>G | No | gnomAD | |
| rs1742177376 | 217 | E>* | No | Ensembl | |
| rs1742177696 | 218 | V>E | No | Ensembl | |
| rs1267796284 | 218 | V>I | No | TOPMed | |
| rs1742177842 | 219 | I>V | No | TOPMed | |
| rs1742178167 | 220 | T>K | No | TOPMed | |
| rs1431751710 | 220 | T>S | No | gnomAD | |
| rs374255122 | 222 | S>C | No |
ESP ExAC TOPMed gnomAD |
|
| rs772582408 | 222 | S>P | No |
ExAC gnomAD |
|
| rs144187220 | 223 | G>E | No |
ESP ExAC TOPMed gnomAD |
|
| rs144187220 | 223 | G>V | No |
ESP ExAC TOPMed gnomAD |
|
| rs2112013651 | 226 | S>P | No | Ensembl | |
| rs1451408656 | 226 | S>Y | No | gnomAD | |
| rs2112013693 | 227 | W>* | No | Ensembl | |
| rs34200022 | 229 | S>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs1742185776 | 231 | A>V | No | gnomAD | |
| rs776888797 | 232 | E>G | No |
ExAC TOPMed gnomAD |
|
| rs1742186284 | 233 | G>E | No | Ensembl | |
| rs759895893 | 236 | S>R | No | ExAC | |
| rs1742186598 | 238 | D>Y | No | TOPMed | |
| rs199749889 | 239 | T>A | No |
TOPMed gnomAD |
|
| rs763851557 | 239 | T>I | No |
ExAC gnomAD |
|
| rs1176560132 | 241 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs747068854 | 242 | P>Q | No |
ExAC gnomAD |
|
| rs1252228457 | 242 | P>S | No | gnomAD | |
| rs1234766149 | 243 | K>E | No | TOPMed | |
| rs1173790013 | 243 | K>R | No | gnomAD | |
| rs1428240003 | 247 | I>R | No |
TOPMed gnomAD |
|
| rs1428240003 | 247 | I>T | No |
TOPMed gnomAD |
|
|
COSM5804286 COSM5804287 COSM5804285 |
247 | I>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1561502196 | 248 | P>H | No | Ensembl | |
| rs777137069 | 249 | P>A | No |
ExAC TOPMed gnomAD |
|
| rs777137069 | 249 | P>S | No |
ExAC TOPMed gnomAD |
|
| rs777137069 | 249 | P>T | No |
ExAC TOPMed gnomAD |
|
|
COSM3855653 COSM3855655 COSM3855654 |
250 | P>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM3828185 COSM3828184 rs1742207413 COSM3828186 |
250 | P>S | Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated Ensembl |
| rs1272456666 | 251 | P>A | No |
TOPMed gnomAD |
|
| rs1742208156 | 252 | P>A | No | TOPMed | |
|
COSM3617100 COSM3617099 COSM3617098 |
254 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs761603696 | 257 | S>F | No |
ExAC gnomAD |
|
| rs767241534 | 258 | I>V | No |
ExAC TOPMed gnomAD |
|
| rs1561502241 | 261 | H>R | No | Ensembl | |
| rs2112015958 | 263 | Q>E | No | Ensembl | |
| rs1277303329 | 264 | T>A | No |
TOPMed gnomAD |
|
| rs760178124 | 269 | D>H | No |
ExAC TOPMed gnomAD |
|
| rs760178124 | 269 | D>N | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 270 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1221158215 | 270 | K>R | No |
TOPMed gnomAD |
|
|
COSM3617102 COSM3617101 COSM3617103 |
271 | Y>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1270894256 | 271 | Y>H | No | gnomAD | |
| rs140068018 | 272 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 272 | D>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1275329546 | 274 | I>V | No | gnomAD | |
| rs199895566 | 276 | V>A | No |
ESP ExAC TOPMed gnomAD |
|
| rs1360190775 | 277 | E>A | No |
TOPMed gnomAD |
|
| rs1742212555 | 280 | G>R | No | TOPMed | |
| rs2305124 | 281 | H>R | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1245917561 | 281 | H>Y | No | gnomAD | |
| rs1410492750 | 282 | D>H | No | Ensembl | |
| rs1159348639 | 283 | A>V | No |
TOPMed gnomAD |
|
| rs1192592065 | 284 | P>T | No | gnomAD | |
|
rs2305123 VAR_052159 |
287 | I>V | No |
UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs1580573328 | 290 | F>L | No | Ensembl | |
|
COSM3855657 COSM3855658 COSM3855656 |
292 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs757404630 | 294 | N>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs757404630 | 294 | N>H | No |
ExAC TOPMed gnomAD |
|
| rs1322571170 | 296 | C>S | No |
TOPMed gnomAD |
|
| rs1322571170 | 296 | C>Y | No |
TOPMed gnomAD |
|
| rs1742260028 | 298 | T>S | No | Ensembl | |
| rs1380704401 | 299 | L>V | No | gnomAD | |
| rs781379194 | 300 | N>H | No |
ExAC gnomAD |
|
| rs745909713 | 300 | N>I | No |
ExAC gnomAD |
|
| rs1742260985 | 300 | N>K | No | TOPMed | |
| rs1742261152 | 302 | N>S | No | gnomAD | |
| rs1356758880 | 303 | I>L | No |
TOPMed gnomAD |
|
| rs756714199 | 303 | I>T | No |
ExAC TOPMed gnomAD |
|
| rs1356758880 | 303 | I>V | No |
TOPMed gnomAD |
|
| rs373718121 | 304 | A>V | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 305 | K>I | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1208975587 | 306 | A>T | No |
TOPMed gnomAD |
|
| rs1742262366 | 306 | A>V | No | TOPMed | |
| rs749678080 | 309 | T>P | No | ExAC | |
| TCGA novel | 313 | P>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1742263238 | 317 | Y>* | No | Ensembl | |
| rs376716574 | 318 | S>G | No |
ESP ExAC TOPMed gnomAD |
|
| rs770460359 | 319 | I>L | No |
ExAC gnomAD |
|
| rs776152217 | 320 | P>A | No |
ExAC TOPMed gnomAD |
|
| rs776152217 | 320 | P>S | No |
ExAC TOPMed gnomAD |
|
| rs538262815 | 321 | I>V | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1742264511 | 322 | I>L | No | Ensembl | |
| rs780759767 | 324 | A>E | No |
TOPMed gnomAD |
|
| rs780759767 | 324 | A>G | No |
TOPMed gnomAD |
|
| rs780759767 | 324 | A>V | No |
TOPMed gnomAD |
|
| rs762873328 | 325 | G>A | No |
ExAC gnomAD |
|
| rs1742265099 | 325 | G>R | No | Ensembl | |
|
rs1450132609 COSM1544282 COSM1544281 COSM1544283 |
326 | R>* | lung Variant assessed as Somatic; HIGH impact. liver [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD |
| rs1742265770 | 326 | R>Q | No | TOPMed | |
|
COSM1437912 COSM1437913 COSM1068941 |
327 | D>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs745506690 | 329 | M>V | No | gnomAD | |
| rs957459 | 331 | C>* | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs751286444 | 331 | C>Y | No |
ExAC TOPMed gnomAD |
|
|
COSM1243203 COSM1243204 COSM1243202 |
332 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs767592092 | 333 | Q>P | No |
ExAC gnomAD |
|
| rs1580573640 | 336 | S>A | No | Ensembl | |
|
COSM3828191 COSM3828192 COSM3828190 |
337 | G>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1742267505 | 339 | T>S | No | TOPMed | |
|
COSM3410318 COSM3410317 COSM3410316 |
340 | A>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs750745025 | 340 | A>V | No |
ExAC TOPMed gnomAD |
|
| rs760969575 | 343 | L>I | No |
ExAC TOPMed gnomAD |
|
| rs779240534 | 346 | I>M | No |
ExAC gnomAD |
|
| rs1742337603 | 346 | I>V | No | TOPMed | |
| rs1369949626 | 348 | A>S | No | gnomAD | |
|
COSM4915592 COSM4915590 rs1430341061 COSM4915591 |
348 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA gnomAD |
| rs1742338318 | 349 | H>R | No | gnomAD | |
| rs1357114999 | 350 | M>V | No |
TOPMed gnomAD |
|
| rs560859446 | 351 | M>L | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs758621693 | 352 | H>R | No |
ExAC TOPMed gnomAD |
|
| rs1301594046 | 353 | D>E | No | gnomAD | |
| rs778106697 | 353 | D>V | No |
ExAC TOPMed gnomAD |
|
| rs1228439994 | 355 | I>L | No |
TOPMed gnomAD |
|
| rs745578945 | 356 | T>N | No |
ExAC gnomAD |
|
| rs755738148 | 357 | A>V | No |
ExAC gnomAD |
|
| rs145392405 | 358 | S>T | No |
ESP TOPMed gnomAD |
|
| rs1343414629 | 359 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs779576435 | 359 | R>H | No |
ExAC TOPMed gnomAD |
|
| rs1742340988 | 360 | F>L | No | TOPMed | |
| rs748704368 | 361 | K>T | No |
ExAC gnomAD |
|
| rs768658856 | 362 | E>Q | No |
ExAC TOPMed gnomAD |
|
| rs142659936 | 363 | L>S | No |
ESP ExAC TOPMed gnomAD |
|
| rs774091598 | 363 | L>V | No |
ExAC TOPMed gnomAD |
|
| rs1364203442 | 367 | E>A | No |
TOPMed gnomAD |
|
| rs1031822700 | 367 | E>D | No |
TOPMed gnomAD |
|
|
COSM5630387 COSM5630386 COSM5630385 |
367 | E>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs761019077 | 374 | T>S | No |
ExAC gnomAD |
|
|
COSM1068942 COSM1595407 rs1430456946 COSM1595406 |
375 | R>* | Variant assessed as Somatic; HIGH impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD |
|
COSM5403651 COSM5403650 COSM5403652 |
375 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1449957128 | 378 | V>A | No | gnomAD | |
| rs766670168 | 379 | N>S | No |
ExAC TOPMed gnomAD |
|
| rs17854461 | 380 | Q>K | No | Ensembl | |
| rs776797047 | 384 | E>Q | No |
ExAC TOPMed gnomAD |
|
| rs1288287314 | 385 | A>V | No | gnomAD | |
|
COSM1595405 COSM1068943 COSM1595404 |
390 | F>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1378000171 | 391 | G>E | No | TOPMed | |
| rs1355679856 | 391 | G>R | No |
TOPMed gnomAD |
|
| rs374596360 | 393 | C>W | No |
ESP ExAC TOPMed gnomAD |
|
|
COSM482905 COSM1137358 |
393 | C>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1301590554 | 394 | V>G | No | gnomAD | |
| rs1436704041 | 394 | V>I | No |
TOPMed gnomAD |
|
|
COSM1595403 COSM1068944 rs377255625 COSM1595402 |
395 | R>I | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs377255625 | 395 | R>K | No |
ESP ExAC TOPMed gnomAD |
|
| rs113652314 | 397 | V>A | No |
ESP ExAC TOPMed gnomAD |
|
| rs775896531 | 397 | V>I | No |
ExAC gnomAD |
|
| rs1269065582 | 399 | I>L | No |
TOPMed gnomAD |
|
| rs776648961 | 399 | I>M | No |
ExAC gnomAD |
|
| rs1331309693 | 399 | I>T | No | gnomAD | |
| rs1269065582 | 399 | I>V | No |
TOPMed gnomAD |
|
|
COSM1437916 COSM1437915 COSM1437914 |
402 | G>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1255492817 | 404 | Q>L | No | gnomAD | |
| rs765291350 | 406 | G>E | No | ExAC | |
| rs759797952 | 406 | G>R | No |
ExAC TOPMed gnomAD |
|
| rs1257962036 | 409 | I>T | No | gnomAD | |
| rs565811624 | 409 | I>V | No |
1000Genomes ExAC |
|
|
COSM1068945 COSM1595400 COSM1595401 |
410 | R>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs371844042 | 410 | R>G | No |
ESP ExAC TOPMed gnomAD |
|
| rs1180971214 | 410 | R>L | No |
TOPMed gnomAD |
|
|
COSM1695800 rs1180971214 COSM1695801 COSM1695799 |
410 | R>Q | skin [Cosmic] | No |
cosmic curated TOPMed gnomAD |
| rs1157476706 | 412 | I>T | No | Ensembl | |
| rs2112046407 | 415 | G>C | No | Ensembl | |
| rs753495142 | 417 | N>D | No |
ExAC TOPMed gnomAD |
|
| rs1742509072 | 418 | I>V | No | TOPMed | |
| rs569670340 | 427 | M>I | No |
1000Genomes ExAC gnomAD |
|
| rs752211963 | 427 | M>T | No |
ExAC gnomAD |
|
| rs1289216479 | 428 | D>G | No | gnomAD | |
| rs867915243 | 428 | D>N | No | Ensembl | |
| rs150405693 | 431 | G>A | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs150405693 | 431 | G>D | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs866090469 | 432 | K>I | No | TOPMed | |
| rs866090469 | 432 | K>R | No | TOPMed | |
| rs2112046692 | 433 | E>* | No | 1000Genomes | |
| rs780884869 | 435 | I>M | No |
ExAC gnomAD |
|
| rs757235075 | 435 | I>V | No |
ExAC TOPMed gnomAD |
|
| rs1742652505 | 436 | G>A | No | Ensembl | |
| rs745635482 | 437 | L>F | No |
ExAC TOPMed gnomAD |
|
| rs745635482 | 437 | L>I | No |
ExAC TOPMed gnomAD |
|
| rs1488520098 | 438 | K>R | No |
TOPMed gnomAD |
|
| rs201103498 | 440 | I>M | No |
ESP ExAC TOPMed gnomAD |
|
| rs1742653531 | 441 | K>R | No | Ensembl | |
|
COSM3855664 COSM3855663 COSM3855662 |
441 | K>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1387798788 | 447 | E>K | No | gnomAD | |
| rs1250978189 | 448 | A>G | No |
TOPMed gnomAD |
|
| rs1250978189 | 448 | A>V | No |
TOPMed gnomAD |
|
| rs1169817062 | 449 | D>G | No | gnomAD | |
|
TCGA novel rs1742654904 |
450 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
|
rs768783395 COSM1595399 COSM1595398 COSM1068947 |
450 | R>H | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
COSM3994356 rs768783395 COSM3994357 COSM3994355 |
450 | R>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
| rs1742654904 | 450 | R>S | No | Ensembl | |
| rs773476083 | 451 | M>L | No |
ExAC TOPMed gnomAD |
|
| rs764804497 | 453 | D>G | No |
ExAC TOPMed gnomAD |
|
| rs1318568990 | 454 | M>I | No | gnomAD | |
| TCGA novel | 455 | G>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1311228 COSM1311229 COSM1311230 rs2112062494 |
459 | E>K | Variant assessed as Somatic; MODERATE impact. urinary_tract [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated Ensembl |
| rs1227535609 | 460 | M>I | No | gnomAD | |
| rs200172185 | 460 | M>T | No |
1000Genomes ExAC gnomAD |
|
| rs1742656700 | 461 | K>R | No | Ensembl | |
|
COSM3373918 COSM3373917 COSM3373916 |
462 | K>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM3617109 COSM3617107 COSM3617108 |
463 | L>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 464 | I>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1288888177 | 468 | G>A | No | gnomAD | |
| rs1321889873 | 469 | M>T | No | gnomAD | |
| rs1215197815 | 470 | P>L | No |
TOPMed gnomAD |
|
| rs1215197815 | 470 | P>Q | No |
TOPMed gnomAD |
|
| rs1245621804 | 471 | S>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
|
rs139850021 RCV000954426 |
472 | K>E | No |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs751078631 | 472 | K>R | No |
ExAC gnomAD |
|
| rs757172816 | 473 | E>* | No |
ExAC TOPMed gnomAD |
|
| rs757172816 | 473 | E>K | No |
ExAC TOPMed gnomAD |
|
| rs1162967461 | 474 | Q>* | No | gnomAD | |
| rs767440080 | 474 | Q>H | No |
ExAC TOPMed gnomAD |
|
| rs150777387 | 475 | R>C | No |
ESP ExAC TOPMed gnomAD |
|
| rs979457128 | 475 | R>H | No |
TOPMed gnomAD |
|
| rs1580583343 | 478 | L>F | No | Ensembl | |
| TCGA novel | 479 | M>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1415419829 | 479 | M>T | No | Ensembl | |
|
COSM1595397 COSM1595396 COSM1068948 rs935295107 |
480 | F>L | endometrium Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
cosmic curated Ensembl NCI-TCGA Cosmic |
| rs1321142144 | 481 | S>C | No | gnomAD | |
| rs1374937566 | 481 | S>T | No |
TOPMed gnomAD |
|
| rs1328063853 | 482 | A>P | No | gnomAD | |
| rs1283336001 | 489 | Q>H | No | gnomAD | |
| rs1379659471 | 490 | R>K | No | gnomAD | |
| rs1743100193 | 493 | A>V | No | gnomAD | |
|
COSM1068949 COSM1595394 COSM1595395 |
494 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs761328689 | 495 | F>I | No |
ExAC gnomAD |
|
| rs761328689 | 495 | F>L | No |
ExAC gnomAD |
|
|
COSM1486828 rs1486855816 COSM1486830 COSM1486829 |
498 | S>L | Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD |
| rs1235078021 | 499 | N>K | No | gnomAD | |
| rs1473015454 | 502 | F>S | No |
TOPMed gnomAD |
|
| rs755985168 | 504 | A>V | No |
ExAC TOPMed gnomAD |
|
| rs1743102842 | 505 | V>I | No | TOPMed | |
| rs1743103156 | 508 | V>M | No | TOPMed | |
| rs1477766612 | 516 | Q>R | No | gnomAD | |
| TCGA novel | 517 | Q>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs146056716 | 519 | V>I | No |
ESP ExAC TOPMed gnomAD |
|
| rs1436510659 | 520 | L>V | No | gnomAD | |
| rs1743104632 | 522 | V>A | No | gnomAD | |
| rs1369740484 | 528 | R>T | No | gnomAD | |
| rs1700080633 | 530 | K>N | No |
TOPMed gnomAD |
|
|
COSM1595390 COSM1068951 COSM1595391 |
530 | K>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs748185209 | 531 | L>V | No |
ExAC gnomAD |
|
|
rs777699581 COSM1249897 COSM1249898 COSM1249899 |
532 | V>I | Variant assessed as Somatic; MODERATE impact. oesophagus [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| rs1743106458 | 536 | R>* | No | Ensembl | |
|
COSM1311236 COSM1311235 COSM1311234 |
536 | R>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM1068952 COSM1595389 COSM1595388 rs906645756 |
536 | R>Q | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated Ensembl NCI-TCGA |
| rs1274938171 | 538 | I>T | No |
TOPMed gnomAD |
|
|
COSM3617115 COSM3617114 COSM3617113 |
539 | G>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs370961271 | 539 | G>R | No |
ESP ExAC TOPMed gnomAD |
|
|
COSM3617116 COSM3617117 COSM3617118 |
540 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1744238967 | 541 | E>K | No | Ensembl | |
|
COSM5466485 COSM5466484 COSM5466486 |
542 | R>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1580615899 | 544 | M>V | No | Ensembl | |
| rs918294491 | 548 | E>K | No |
TOPMed gnomAD |
|
| TCGA novel | 555 | F>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs771562228 | 557 | A>T | No | Ensembl | |
| rs1475215842 | 558 | T>A | No |
TOPMed gnomAD |
|
| rs751550141 | 558 | T>I | No |
ExAC gnomAD |
|
| rs1207464263 | 564 | K>E | No |
TOPMed gnomAD |
|
| rs1463639428 | 564 | K>N | No |
TOPMed gnomAD |
|
|
COSM3366099 COSM3366100 COSM3366101 rs1744241469 |
564 | K>T | kidney [Cosmic] | No |
cosmic curated TOPMed |
| rs781741593 | 565 | I>L | No |
ExAC TOPMed gnomAD |
|
| rs1206086965 | 565 | I>T | No | TOPMed | |
| rs781741593 | 565 | I>V | No |
ExAC TOPMed gnomAD |
|
| rs1561520832 | 565 | I>Y | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM365316 | 566 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs746238070 | 567 | T>A | No |
ExAC gnomAD |
|
| rs1744242503 | 568 | T>I | No | gnomAD | |
|
COSM4636123 COSM4636125 COSM4636124 |
574 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs867672776 | 575 | E>K | No | Ensembl | |
| rs1744307854 | 577 | R>S | No | TOPMed | |
| TCGA novel | 578 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs868338175 | 578 | E>K | No | Ensembl | |
| rs764169596 | 584 | G>R | No |
ExAC gnomAD |
|
|
COSM3617119 COSM3617121 COSM3617120 |
587 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM3661856 rs1345293584 COSM3661855 COSM3661854 |
587 | R>H | liver Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD |
| rs1580617504 | 587 | R>S | No | Ensembl | |
| TCGA novel | 588 | F>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 589 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM738492 COSM1150110 COSM1150109 |
592 | P>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 594 | L>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs751024016 | 599 | V>I | No |
ExAC TOPMed gnomAD |
|
| rs2112206259 | 606 | I>V | No | Ensembl | |
| rs1295505745 | 608 | N>D | No | gnomAD | |
| rs1213641447 | 608 | N>S | No | gnomAD | |
| rs756659302 | 610 | Q>* | No |
ExAC gnomAD |
|
| rs1412482073 | 611 | H>R | No | TOPMed | |
| TCGA novel | 612 | V>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1386901730 | 613 | I>V | No | TOPMed | |
|
COSM1068953 COSM1595387 COSM1595386 |
616 | D>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 617 | L>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs143601033 | 621 | I>T | No |
ESP ExAC TOPMed gnomAD |
|
| rs745391941 | 621 | I>V | No | gnomAD | |
| rs777227965 | 622 | D>E | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 625 | V>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs778496112 | 626 | H>N | No | gnomAD | |
| rs778496112 | 626 | H>Y | No | gnomAD | |
| rs200249074 | 627 | R>* | No | 1000Genomes | |
|
COSM5601346 COSM5601345 COSM5601344 |
627 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM3784916 COSM3784914 COSM3784915 |
630 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs746664207 | 631 | T>S | No |
ExAC gnomAD |
|
|
COSM5005329 COSM5005328 COSM5005327 |
632 | G>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1471377290 | 633 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs1471377290 | 633 | R>L | No | gnomAD | |
| rs1002939313 | 637 | T>I | No | TOPMed | |
| rs375657173 | 639 | R>S | No |
ESP ExAC TOPMed gnomAD |
|
| rs368614330 | 641 | I>V | No |
ESP ExAC TOPMed gnomAD |
|
|
COSM5590494 COSM5590495 COSM5590493 |
642 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1744319198 | 646 | L>P | No | TOPMed | |
|
COSM4382438 rs1441008911 COSM4382436 COSM4382437 |
648 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
| rs1174571740 | 650 | N>H | No |
TOPMed gnomAD |
|
| rs1377497577 | 650 | N>S | No |
TOPMed gnomAD |
|
| rs1435898830 | 655 | P>R | No | gnomAD | |
| rs769575758 | 657 | V>L | No |
ExAC TOPMed gnomAD |
|
| rs1561521714 | 659 | V>A | No | Ensembl | |
| TCGA novel | 659 | V>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1012798339 | 659 | V>I | No |
TOPMed gnomAD |
|
|
COSM1068954 COSM1595385 COSM1595384 |
659 | V>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1299012434 | 660 | L>M | No | gnomAD | |
| rs572547236 | 661 | T>A | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1217609468 | 661 | T>K | No | gnomAD | |
| TCGA novel | 661 | T>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs774503380 | 662 | D>G | No |
ExAC gnomAD |
|
| rs1445779228 | 662 | D>H | No |
TOPMed gnomAD |
|
| TCGA novel | 665 | Q>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs977155124 | 666 | D>N | No |
TOPMed gnomAD |
|
|
COSM1068955 COSM1595382 COSM1595383 |
667 | V>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs148539880 | 667 | V>I | No |
ESP ExAC TOPMed gnomAD |
|
|
COSM3617127 COSM3617125 COSM3617126 |
668 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2112208102 | 669 | A>G | No | Ensembl | |
| rs775222979 | 669 | A>S | No |
ExAC TOPMed gnomAD |
|
| rs775222979 | 669 | A>T | No |
ExAC TOPMed gnomAD |
|
| rs749243733 | 672 | E>K | No |
ExAC gnomAD |
|
| rs1441506517 | 674 | I>M | No | gnomAD | |
| rs199707542 | 674 | I>S | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs199707542 | 674 | I>T | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs762159528 | 676 | F>C | No |
ExAC gnomAD |
|
| rs746277867 | 676 | F>L | No | Ensembl | |
| rs1744335341 | 676 | F>V | No | Ensembl | |
| rs1213707098 | 679 | Y>C | No | gnomAD | |
| rs151015095 | 680 | I>V | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs373207863 | 681 | P>A | No |
ESP ExAC TOPMed gnomAD |
|
| rs373207863 | 681 | P>S | No |
ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 681 | P>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs755490989 | 682 | G>C | No |
ExAC gnomAD |
|
| rs755490989 | 682 | G>S | No |
ExAC gnomAD |
|
| rs1744337385 | 682 | G>V | No | TOPMed | |
| rs753017587 | 687 | T>K | No |
ExAC gnomAD |
|
| rs1744339019 | 688 | R>S | No | TOPMed | |
| rs375133678 | 690 | N>K | No |
ESP ExAC TOPMed gnomAD |
|
| rs770112379 | 691 | V>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs779602219 | 695 | V>I | No |
ExAC gnomAD |
|
|
COSM6171700 COSM6171701 COSM6171699 |
696 | D>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 698 | R>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1436713277 | 699 | K>R | No | TOPMed | |
| rs1411191544 | 702 | S>C | No | gnomAD | |
| rs750133318 | 702 | S>N | No |
ExAC TOPMed gnomAD |
|
| rs1299252798 | 703 | T>A | No |
TOPMed gnomAD |
|
| rs755767468 | 703 | T>S | No |
ExAC gnomAD |
|
| rs1744428437 | 705 | N>K | No | Ensembl | |
| rs1744428722 | 707 | A>V | No | Ensembl | |
| rs779469513 | 708 | G>R | No |
ExAC gnomAD |
|
| rs1353156456 | 708 | G>V | No | gnomAD | |
| rs1744429498 | 709 | F>L | No | TOPMed | |
| TCGA novel | 709 | F>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1285860669 | 710 | S>F | No | gnomAD | |
| rs2112215458 | 711 | S>* | No | Ensembl | |
| rs1580620003 | 711 | S>C | No | TOPMed | |
| rs1580620003 | 711 | S>F | No | TOPMed | |
| rs1744430616 | 711 | S>P | No | TOPMed | |
| rs934588636 | 713 | Q>H | No |
TOPMed gnomAD |
|
| rs754886171 | 713 | Q>R | No |
ExAC gnomAD |
|
|
COSM1595378 COSM1595379 COSM1068957 |
714 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1428927839 | 714 | A>V | No | TOPMed | |
| rs1744431586 | 715 | P>L | No | TOPMed | |
| rs199859316 | 716 | N>S | No |
ExAC gnomAD |
|
| rs1744431736 | 716 | N>Y | No | Ensembl | |
| rs1744432066 | 717 | P>L | No | gnomAD | |
| rs1053019639 | 719 | D>G | No |
TOPMed gnomAD |
|
| rs748094048 | 720 | D>H | No |
ExAC gnomAD |
|
| rs1258683890 | 721 | E>K | No | gnomAD | |
| rs1180343938 | 723 | W>* | No | gnomAD |
No associated diseases with Q9NQI0
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 | |
6 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| 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. |
| P granule | A small cytoplasmic, non-membranous RNA/protein complex aggregate in the primordial germ cells of many higher eukaryotes. |
| perinuclear region of cytoplasm | Cytoplasm situated near, or occurring around, the nucleus. |
| pi-body | A P granule that contains the PIWIL2-TDRD1 module, a set of proteins that act in the primary piRNA pathway. The pi-body corresponds to the cementing material between mitochondria found in gonocytes. |
| piP-body | A P granule that contains the PIWIL4-TDRD9 module, a set of proteins that act in the secondary piRNA pathway. |
5 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 |
| molecular condensate scaffold activity | Binding and bringing together two or more macromolecules in contact, permitting those molecules to organize as a molecular condensate. |
| mRNA binding | Binding to messenger RNA (mRNA), an intermediate molecule between DNA and protein. mRNA includes UTR and coding sequences, but does not contain introns. |
| RNA helicase activity | Unwinding of an RNA helix, driven by ATP hydrolysis. |
10 GO annotations of biological process
| Name | Definition |
|---|---|
| cell differentiation | The cellular developmental process in which a relatively unspecialized cell, e.g. embryonic or regenerative cell, acquires specialized structural and/or functional features that characterize a specific cell. Differentiation includes the processes involved in commitment of a cell to a specific fate and its subsequent development to the mature state. |
| flagellated sperm motility | The directed, self-propelled movement of a cilium (aka flagellum) that contributes to the movement of a flagellated sperm. |
| gamete generation | The generation and maintenance of gametes in a multicellular organism. A gamete is a haploid reproductive cell. |
| germ cell development | The process whose specific outcome is the progression of an immature germ cell over time, from its formation to the mature structure (gamete). A germ cell is any reproductive cell in a multicellular organism. |
| male meiosis I | A cell cycle process comprising the steps by which a cell progresses through male meiosis I, the first meiotic division in the male germline. |
| male meiotic nuclear division | A cell cycle process by which the cell nucleus divides as part of a meiotic cell cycle in the male germline. |
| piRNA processing | A process leading to the generation of a functional piRNA. piRNAs (Piwi-associated RNAs) are a class of 24- to 30-nucleotide RNAs derived from repeat or complex DNA sequence elements and processed by a Dicer-independent mechanism. |
| piRNA-mediated retrotransposon silencing by heterochromatin formation | A retrotransposon silencing mechanism in which a piRNA triggers heterochromatin assembly. Heterochromatin is a chromatin conformation that is refractory to transcription. |
| siRNA-mediated retrotransposon silencing by heterochromatin formation | A retrotransposon silencing mechanism in which a siRNA triggers heterochromatin assembly. Heterochromatin is a chromatin conformation that is refractory to transcription. |
| spermatogenesis | The developmental process by which male germ line stem cells self renew or give rise to successive cell types resulting in the development of a spermatozoa. |
25 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q5W5U4 | DDX4 | Probable ATP-dependent RNA helicase DDX4 | Bos taurus (Bovine) | SS |
| Q6GVM6 | DDX3Y | ATP-dependent RNA helicase DDX3Y | Pan troglodytes (Chimpanzee) | SS |
| P38919 | EIF4A3 | Eukaryotic initiation factor 4A-III | Homo sapiens (Human) | PR |
| O15523 | DDX3Y | ATP-dependent RNA helicase DDX3Y | Homo sapiens (Human) | SS |
| O00571 | DDX3X | ATP-dependent RNA helicase DDX3X | Homo sapiens (Human) | EV |
| Q9UHL0 | DDX25 | ATP-dependent RNA helicase DDX25 | Homo sapiens (Human) | PR |
| Q9UMR2 | DDX19B | ATP-dependent RNA helicase DDX19B | Homo sapiens (Human) | PR |
| Q9NUU7 | DDX19A | ATP-dependent RNA helicase DDX19A | Homo sapiens (Human) | PR |
| P17844 | DDX5 | Probable ATP-dependent RNA helicase DDX5 | Homo sapiens (Human) | PR |
| O00148 | DDX39A | ATP-dependent RNA helicase DDX39A | Homo sapiens (Human) | PR |
| Q13838 | DDX39B | Spliceosome RNA helicase DDX39B | Homo sapiens (Human) | PR |
| Q9UJV9 | DDX41 | Probable ATP-dependent RNA helicase DDX41 | Homo sapiens (Human) | PR |
| Q62167 | Ddx3x | ATP-dependent RNA helicase DDX3X | Mus musculus (Mouse) | SS |
| P16381 | D1Pas1 | Putative ATP-dependent RNA helicase Pl10 | Mus musculus (Mouse) | SS |
| Q62095 | Ddx3y | ATP-dependent RNA helicase DDX3Y | Mus musculus (Mouse) | SS |
| Q61496 | Ddx4 | ATP-dependent RNA helicase DDX4 | Mus musculus (Mouse) | SS |
| Q6GWX0 | DDX4 | Probable ATP-dependent RNA helicase DDX4 | Sus scrofa (Pig) | SS |
| Q6Z4K6 | PL10B | DEAD-box ATP-dependent RNA helicase 52B | Oryza sativa subsp. japonica (Rice) | SS |
| Q75HJ0 | PL10A | DEAD-box ATP-dependent RNA helicase 37 | Oryza sativa subsp. japonica (Rice) | SS |
| Q2R1M8 | Os11g0599500 | DEAD-box ATP-dependent RNA helicase 52C | Oryza sativa subsp. japonica (Rice) | SS |
| D0PV95 | laf-1 | ATP-dependent RNA helicase laf-1 | Caenorhabditis elegans | SS |
| O01836 | glh-3 | ATP-dependent RNA helicase glh-3 | Caenorhabditis elegans | PR |
| Q8LA13 | RH11 | DEAD-box ATP-dependent RNA helicase 11 | Arabidopsis thaliana (Mouse-ear cress) | SS |
| Q84W89 | RH37 | DEAD-box ATP-dependent RNA helicase 37 | Arabidopsis thaliana (Mouse-ear cress) | SS |
| Q9M2F9 | RH52 | DEAD-box ATP-dependent RNA helicase 52 | Arabidopsis thaliana (Mouse-ear cress) | SS |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MGDEDWEAEI | NPHMSSYVPI | FEKDRYSGEN | GDNFNRTPAS | SSEMDDGPSR | RDHFMKSGFA |
| 70 | 80 | 90 | 100 | 110 | 120 |
| SGRNFGNRDA | GECNKRDNTS | TMGGFGVGKS | FGNRGFSNSR | FEDGDSSGFW | RESSNDCEDN |
| 130 | 140 | 150 | 160 | 170 | 180 |
| PTRNRGFSKR | GGYRDGNNSE | ASGPYRRGGR | GSFRGCRGGF | GLGSPNNDLD | PDECMQRTGG |
| 190 | 200 | 210 | 220 | 230 | 240 |
| LFGSRRPVLS | GTGNGDTSQS | RSGSGSERGG | YKGLNEEVIT | GSGKNSWKSE | AEGGESSDTQ |
| 250 | 260 | 270 | 280 | 290 | 300 |
| GPKVTYIPPP | PPEDEDSIFA | HYQTGINFDK | YDTILVEVSG | HDAPPAILTF | EEANLCQTLN |
| 310 | 320 | 330 | 340 | 350 | 360 |
| NNIAKAGYTK | LTPVQKYSIP | IILAGRDLMA | CAQTGSGKTA | AFLLPILAHM | MHDGITASRF |
| 370 | 380 | 390 | 400 | 410 | 420 |
| KELQEPECII | VAPTRELVNQ | IYLEARKFSF | GTCVRAVVIY | GGTQLGHSIR | QIVQGCNILC |
| 430 | 440 | 450 | 460 | 470 | 480 |
| ATPGRLMDII | GKEKIGLKQI | KYLVLDEADR | MLDMGFGPEM | KKLISCPGMP | SKEQRQTLMF |
| 490 | 500 | 510 | 520 | 530 | 540 |
| SATFPEEIQR | LAAEFLKSNY | LFVAVGQVGG | ACRDVQQTVL | QVGQFSKREK | LVEILRNIGD |
| 550 | 560 | 570 | 580 | 590 | 600 |
| ERTMVFVETK | KKADFIATFL | CQEKISTTSI | HGDREQRERE | QALGDFRFGK | CPVLVATSVA |
| 610 | 620 | 630 | 640 | 650 | 660 |
| ARGLDIENVQ | HVINFDLPST | IDEYVHRIGR | TGRCGNTGRA | ISFFDLESDN | HLAQPLVKVL |
| 670 | 680 | 690 | 700 | 710 | 720 |
| TDAQQDVPAW | LEEIAFSTYI | PGFSGSTRGN | VFASVDTRKG | KSTLNTAGFS | SSQAPNPVDD |
| ESWD |