Q96C10
PR
Gene name |
DHX58 |
Protein name |
ATP-dependent RNA helicase DHX58 |
Names |
ATP-dependent helicase LGP2, Protein D11Lgp2 homolog, RIG-I-like receptor 3, RLR-3, RIG-I-like receptor LGP2, RLR |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:79132 |
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
4 structures for Q96C10
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2RQA | NMR | - | A | 546-678 | PDB |
| 2W4R | X-ray | 260 A | A/B/C/D | 537-678 | PDB |
| 3EQT | X-ray | 200 A | A/B | 541-678 | PDB |
| AF-Q96C10-F1 | Predicted | AlphaFoldDB |
597 variants for Q96C10
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs980486119 CA290716436 |
2 | E>V | No |
ClinGen TOPMed gnomAD |
|
|
CA399547304 rs1555664435 |
4 | R>Q | No |
ClinGen gnomAD |
|
|
CA8571288 rs781954087 |
4 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1555664432 CA399547294 |
5 | S>P | No |
ClinGen Ensembl |
|
|
CA399547269 rs1190530711 |
6 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA399547266 rs1190530711 |
6 | Y>F | No |
ClinGen TOPMed gnomAD |
|
|
CA399547254 rs1555664423 |
7 | Q>* | No |
ClinGen gnomAD |
|
|
rs1555664423 CA399547258 |
7 | Q>K | No |
ClinGen gnomAD |
|
|
rs373058717 CA8571287 |
7 | Q>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200502586 CA8571285 VAR_083645 |
8 | W>C | found in a patient with a neurodevelopmental disorder; unknown pathological significance [UniProt] | No |
ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
rs372759276 CA399547149 CA8571282 |
12 | M>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs372759276 CA8571281 |
12 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8571280 rs782353495 |
13 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399547034 rs1294597580 |
17 | G>D | No |
ClinGen TOPMed |
|
|
rs782640891 CA8571278 |
17 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1238078903 CA399546992 |
19 | N>S | No |
ClinGen TOPMed |
|
|
rs571233642 CA8571277 |
22 | I>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA399546924 rs1598223269 |
22 | I>M | No |
ClinGen Ensembl |
|
|
CA8571276 rs571233642 |
22 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA290716416 rs960202602 |
23 | W>R | No |
ClinGen Ensembl |
|
|
CA290716414 rs782251742 |
24 | L>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs550521451 CA8571275 |
25 | P>H | No |
ClinGen 1000Genomes ExAC |
|
|
rs1555664393 CA399546883 |
25 | P>S | No |
ClinGen gnomAD |
|
|
CA290716410 rs1026450344 |
26 | T>A | No |
ClinGen Ensembl |
|
|
CA290716407 rs963704796 |
27 | G>A | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 27 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8571271 rs377046797 |
29 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8571270 rs781851482 |
31 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1555664380 CA399546806 |
31 | T>I | No |
ClinGen gnomAD |
|
|
rs781851482 CA399546814 |
31 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8571268 rs782139164 |
32 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368644102 CA8571267 |
32 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8571269 rs782139164 |
32 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782698814 CA8571266 |
33 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782698814 CA399546790 |
33 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399546767 rs1412128115 |
35 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs139860453 CA290716391 |
37 | V>L | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA399546727 rs1165860459 |
39 | K>R | No |
ClinGen TOPMed |
|
|
CA8571263 rs782382070 |
40 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371874809 CA8571264 |
40 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs782300137 CA8571262 |
42 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA8571260 rs782024053 |
46 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8571259 rs782329824 |
50 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA290716386 rs997566230 |
54 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1555664346 CA399546569 |
54 | V>I | No |
ClinGen gnomAD |
|
|
rs782181393 CA399546544 |
56 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs146441243 CA8571233 |
57 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1415302023 CA399546505 |
59 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA290716351 rs782581987 CA399546501 |
60 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA399546502 rs782581987 |
60 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA8571231 rs782612886 |
62 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs112187978 CA290716349 |
62 | Q>R | No |
ClinGen Ensembl |
|
|
CA8571230 rs782475604 |
63 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8571229 rs562522290 |
65 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA8571228 rs782694745 |
65 | E>V | No |
ClinGen ExAC |
|
|
rs201232934 CA8571226 |
66 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA290716345 rs972285279 |
66 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
rs201232934 CA399546464 |
66 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA290716343 rs963849753 |
67 | F>Y | No |
ClinGen Ensembl |
|
|
CA399546447 rs1555664255 |
68 | R>K | No |
ClinGen gnomAD |
|
|
CA8571223 rs782702291 COSM979409 |
69 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs143989971 CA8571222 |
69 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 69 | R>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8571224 rs782702291 |
69 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8571219 rs370935609 CA290716339 |
70 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1216346846 CA399546437 |
70 | M>T | No |
ClinGen TOPMed |
|
|
CA399546425 rs868953659 |
72 | D>G | No |
ClinGen Ensembl |
|
|
rs1449287365 CA399546427 |
72 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs782417562 CA8571217 |
73 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782026491 CA8571218 |
73 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA8571215 rs200045895 |
74 | R>C | No |
ClinGen 1000Genomes ESP TOPMed gnomAD |
|
|
rs374347077 CA8571214 |
74 | R>H | No |
ClinGen ESP ExAC gnomAD |
|
|
CA8571213 rs34891485 VAR_049336 |
76 | T>A | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs782211318 CA8571211 |
77 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1297418122 CA399546384 |
79 | T>I | No |
ClinGen TOPMed |
|
|
CA399546380 rs1555664218 |
80 | L>V | No |
ClinGen gnomAD |
|
|
rs377026859 CA8571210 |
81 | S>N | No |
ClinGen ESP ExAC gnomAD |
|
|
CA8571208 rs782278296 |
82 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782422542 CA8571209 |
82 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1555664205 CA399546356 |
84 | M>V | No |
ClinGen Ensembl |
|
|
CA8571205 rs536061396 |
85 | G>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA290716329 rs200691988 |
86 | P>T | No |
ClinGen 1000Genomes |
|
|
CA8571204 rs142447445 |
87 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs200153212 CA290716328 |
87 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA399546323 rs1233362283 |
89 | G>D | No |
ClinGen TOPMed |
|
|
CA8571203 rs148777321 |
92 | H>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8571200 VAR_049337 rs35118457 |
95 | R>Q | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA8571201 rs781856201 |
95 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1487033946 CA399546278 |
96 | C>Y | No |
ClinGen TOPMed |
|
|
CA399546271 rs1267295131 |
97 | H>R | No |
ClinGen TOPMed |
|
|
rs143936298 CA290716321 |
99 | L>P | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA399546250 rs1555664169 |
100 | L>R | No |
ClinGen gnomAD |
|
|
rs549793858 CA8571198 |
101 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1555664162 CA399546212 |
103 | T>I | No |
ClinGen gnomAD |
|
|
CA8571197 rs538583592 |
103 | T>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA8571196 rs782092747 |
104 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs781950171 CA8571195 |
108 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs782772683 CA399546143 |
109 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782772683 CA8571194 |
109 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8571193 rs782172413 |
110 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs782018805 CA8571192 |
112 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399546078 rs782795082 |
113 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA8571191 rs373628500 |
115 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8571190 rs782182692 |
117 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA399546028 rs782182692 |
117 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA8571187 rs138403190 |
120 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA399545952 rs1555664112 |
121 | E>D | No |
ClinGen gnomAD |
|
|
CA399545944 rs1373978967 |
122 | L>F | No |
ClinGen TOPMed |
|
|
CA399545934 rs1555664108 |
123 | T>P | No |
ClinGen gnomAD |
|
|
CA8571161 rs782325883 |
124 | V>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1555663992 CA399545828 |
125 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs782174308 CA8571160 |
126 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs782619499 CA8571159 |
128 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782254544 CA8571157 |
129 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA8571158 rs147471674 COSM979408 |
129 | V>M | endometrium [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs1555663985 CA399545785 |
131 | D>Y | No |
ClinGen gnomAD |
|
|
rs781990538 CA290716228 |
132 | E>D | No |
ClinGen Ensembl |
|
|
rs1555663983 CA399545773 |
132 | E>G | No |
ClinGen gnomAD |
|
|
rs1555663982 CA399545767 |
133 | C>G | No |
ClinGen gnomAD |
|
|
rs782543311 CA8571155 |
135 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA8571154 rs143024378 |
136 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs782496236 CA8571152 |
137 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs138687684 CA8571153 |
137 | H>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA290716221 rs923525202 |
141 | V>A | No |
ClinGen TOPMed |
|
|
rs150385537 CA8571150 |
141 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs150385537 CA399545712 |
141 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8571147 rs375973517 |
144 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA399545681 rs1470266593 |
145 | I>T | No |
ClinGen TOPMed |
|
|
CA8571146 rs537847263 |
146 | M>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 151 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1598221586 CA399545573 |
153 | K>N | No |
ClinGen Ensembl |
|
|
rs1555663955 CA399545561 |
154 | L>P | No |
ClinGen Ensembl |
|
|
CA399545566 rs1405343086 |
154 | L>V | No |
ClinGen TOPMed |
|
| TCGA novel | 156 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781920109 CA8571143 |
157 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781920109 CA399545531 |
157 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8571141 RCV001839460 rs148863728 |
158 | Q>* | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1464145775 CA399545496 |
159 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA399545465 rs1555663933 |
162 | Q>H | No |
ClinGen gnomAD |
|
|
rs1444623452 CA399545433 |
165 | G>A | No |
ClinGen TOPMed |
|
| TCGA novel | 165 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8571135 rs377446820 |
169 | S>F | No |
ClinGen ESP ExAC gnomAD |
|
|
CA8571134 rs782239627 |
170 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 170 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1232407065 CA399545376 |
171 | G>S | No |
ClinGen TOPMed |
|
|
CA399545368 rs1555663920 |
172 | T>A | No |
ClinGen gnomAD |
|
|
CA8571132 rs143136123 |
174 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1598221485 CA399545331 |
175 | A>G | No |
ClinGen Ensembl |
|
|
CA8571131 rs140957705 |
176 | S>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs782677930 CA8571130 |
177 | K>R | No |
ClinGen ExAC |
|
|
CA8571128 rs144023244 |
179 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8571127 rs782699664 |
184 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399545218 rs1236128563 |
185 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs140251603 CA8571126 |
187 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1294952152 CA399545116 |
188 | L>V | No |
ClinGen TOPMed |
|
|
CA399545104 rs1568005511 |
189 | C>Y | No |
ClinGen Ensembl |
|
|
CA8571110 rs782601809 |
190 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs782228628 CA8571111 |
190 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA399545083 rs782511717 |
191 | N>I | No |
ClinGen ExAC gnomAD |
|
|
CA399545081 rs1393802808 |
191 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
CA399545085 rs782511717 |
191 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA8571109 rs782511717 |
191 | N>T | No |
ClinGen ExAC gnomAD |
|
|
rs781852067 CA8571108 |
192 | L>W | No |
ClinGen ExAC gnomAD |
|
|
rs1391185863 CA399545046 |
194 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
rs145447726 CA8571105 |
195 | W>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs782766966 CA8571104 |
195 | W>C | No |
ClinGen ExAC gnomAD |
|
|
rs145447726 CA8571106 |
195 | W>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA399545028 rs1555663586 |
196 | C>G | No |
ClinGen gnomAD |
|
|
rs1335572679 CA399544999 |
198 | M>T | No |
ClinGen TOPMed |
|
|
CA8571102 rs782011585 |
198 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399544978 rs1555663576 |
200 | P>S | No |
ClinGen gnomAD |
|
|
CA8571100 rs782170261 |
202 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1598219920 CA399544918 |
204 | C>Y | No |
ClinGen Ensembl |
|
|
CA8571099 rs782023824 |
205 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1037535638 CA290715905 |
206 | Q>* | No |
ClinGen Ensembl |
|
|
CA8571097 rs782175251 |
209 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs142411451 CA8571098 |
209 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1185747392 CA399544825 |
214 | P>L | No |
ClinGen TOPMed |
|
|
rs782341122 CA399544828 |
214 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8571095 rs782341122 |
214 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8571093 rs377047131 |
215 | C>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs782255668 CA8571094 |
215 | C>G | No |
ClinGen ExAC gnomAD |
|
|
CA399544808 rs1423907590 |
217 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA399544804 rs1598219851 |
217 | Q>H | No |
ClinGen Ensembl |
|
|
rs1555663544 CA399544806 |
217 | Q>R | No |
ClinGen gnomAD |
|
|
rs1598219845 CA399544790 |
219 | N>T | No |
ClinGen Ensembl |
|
|
rs367980454 CA8571090 |
224 | R>C | Variant assessed as Somatic; 4.644e-05 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA8571089 COSM979406 rs139980422 |
224 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA399544063 rs1169681612 |
225 | S>R | No |
ClinGen TOPMed |
|
|
CA399544027 rs1555663536 |
226 | Q>H | No |
ClinGen gnomAD |
|
|
rs1555663537 CA399544039 |
226 | Q>P | No |
ClinGen gnomAD |
|
|
rs782790320 CA8571057 |
227 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 228 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1568004751 CA399543749 |
228 | P>S | No |
ClinGen Ensembl |
|
| TCGA novel | 229 | F>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1292717711 CA399543655 |
232 | L>W | No |
ClinGen TOPMed |
|
|
CA8571055 rs781970197 |
237 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA8571054 rs782349280 |
238 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1555663204 CA399543497 |
239 | Q>H | No |
ClinGen gnomAD |
|
|
rs1368280155 CA399543463 |
241 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA399543439 rs1286341590 |
242 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA399543418 rs782134071 |
243 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8571053 rs782134071 |
243 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8571052 rs781992768 |
245 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA8571051 rs782424594 |
246 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA8571050 rs782280357 |
247 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs782582597 CA8571049 |
249 | L>W | No |
ClinGen ExAC gnomAD |
|
|
rs1555663196 CA399543240 |
251 | R>Q | No |
ClinGen gnomAD |
|
|
CA8571048 rs782317670 |
251 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA399543207 rs1228400542 |
253 | F>S | No |
ClinGen TOPMed |
|
|
rs371459098 CA8571046 |
256 | Q>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA290715584 rs371459098 |
256 | Q>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA399543114 rs1319535630 |
257 | M>I | No |
ClinGen TOPMed |
|
|
rs782514778 CA8571045 |
258 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
CA8571044 rs781845007 |
259 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399543042 rs1568004681 |
261 | Q>K | No |
ClinGen Ensembl |
|
|
rs1555663187 CA399542951 |
264 | K>R | No |
ClinGen gnomAD |
|
|
CA8571043 rs782690330 |
265 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA399542903 rs1555663184 |
267 | E>Q | No |
ClinGen gnomAD |
|
|
rs1266368630 CA399542864 |
268 | A>V | No |
ClinGen TOPMed |
|
|
CA399542687 rs868912511 |
269 | A>E | No |
ClinGen gnomAD |
|
|
rs868912511 CA399542684 |
269 | A>V | No |
ClinGen gnomAD |
|
|
CA399542634 rs1447371837 |
272 | A>T | No |
ClinGen TOPMed |
|
|
CA399542618 rs1195055904 |
272 | A>V | No |
ClinGen TOPMed |
|
|
CA399542604 rs1555663111 |
273 | G>V | No |
ClinGen gnomAD |
|
|
rs1555663105 CA399542568 |
275 | Q>* | No |
ClinGen gnomAD |
|
|
rs375862923 CA8571015 |
275 | Q>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA399542515 rs1555663101 |
277 | Q>* | No |
ClinGen gnomAD |
|
| TCGA novel | 277 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs912583425 CA399542510 |
277 | Q>P | No |
ClinGen TOPMed |
|
|
CA290715497 rs912583425 |
277 | Q>R | No |
ClinGen TOPMed |
|
|
CA8571014 rs781794432 |
278 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA399542493 rs1455144758 |
278 | R>W | No |
ClinGen TOPMed |
|
|
rs782743543 CA399542480 |
279 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs782743543 CA8571013 |
279 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA8571011 rs782076848 |
280 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
rs200033743 CA8571010 |
280 | Y>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs782019652 CA8571007 |
281 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782019652 CA399542422 |
281 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782754540 CA8571009 |
281 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8571008 rs782019652 |
281 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1555663084 CA399542409 |
282 | L>P | No |
ClinGen gnomAD |
|
|
CA399542390 rs1555663083 |
283 | H>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 283 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA290715487 rs967905101 |
285 | R>K | No |
ClinGen Ensembl |
|
|
CA8571006 rs782324484 |
286 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs782173053 CA8571005 |
286 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA8571004 rs150682851 |
287 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1555663080 CA399542338 |
287 | Y>H | No |
ClinGen gnomAD |
|
|
rs1285692904 CA399542272 |
290 | A>T | No |
ClinGen TOPMed |
|
|
CA8571001 rs568281152 |
291 | L>R | No |
ClinGen 1000Genomes ExAC |
|
|
CA8571003 rs145560397 |
291 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1555663071 CA399542224 |
292 | L>H | No |
ClinGen gnomAD |
|
|
CA399542213 rs1555663070 |
293 | I>V | No |
ClinGen gnomAD |
|
|
rs140055411 CA8570998 |
294 | H>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8570999 rs782206062 |
294 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs782787620 CA8570995 |
297 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1555663064 CA399542047 |
298 | R>L | No |
ClinGen gnomAD |
|
| TCGA novel | 299 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781896443 CA8570993 |
300 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1206725123 CA399542004 |
301 | D>H | No |
ClinGen TOPMed |
|
|
CA8570992 rs782793512 |
303 | L>S | No |
ClinGen ExAC |
|
|
CA399541826 rs1555663049 |
307 | Q>E | No |
ClinGen gnomAD |
|
|
CA8570990 rs377222837 |
308 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs782735279 CA8570989 |
310 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA290715462 rs1011372352 |
311 | H>Y | No |
ClinGen Ensembl |
|
|
rs782133349 CA8570988 |
312 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1555663042 CA399541614 |
313 | E>A | No |
ClinGen gnomAD |
|
|
CA8570987 rs372603388 |
313 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs781950469 CA8570985 |
315 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8570986 rs201457434 |
315 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1555663027 CA399541529 |
317 | K>E | No |
ClinGen gnomAD |
|
|
rs782316857 CA8570983 |
317 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs782235485 CA8570982 |
318 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA8570981 rs570220900 |
319 | Q>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 322 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 323 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA399541323 rs1369242613 |
324 | E>D | No |
ClinGen TOPMed |
|
|
rs782666732 CA8570978 COSM1383299 |
324 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA399541292 rs1598217898 |
325 | R>L | No |
ClinGen Ensembl |
|
|
rs1409352968 CA399541286 |
326 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1555663010 CA399541270 |
327 | L>V | No |
ClinGen gnomAD |
|
|
rs1337796937 CA399541244 |
328 | L>P | No |
ClinGen TOPMed |
|
|
CA290715444 rs1034245715 |
329 | A>V | No |
ClinGen Ensembl |
|
|
rs1555662994 CA399541158 |
332 | D>G | No |
ClinGen gnomAD |
|
|
rs375278885 CA399541170 |
332 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8570976 rs375278885 |
332 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 333 | D>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs76998797 CA8570954 |
334 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs781905780 CA8570952 |
334 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781905780 CA290715131 |
334 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8570950 rs374547132 |
335 | K>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs782467156 CA8570949 |
338 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA399540730 rs1555662584 |
339 | A>D | No |
ClinGen gnomAD |
|
|
CA8570945 rs781880724 |
340 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA399540718 rs1555662577 |
340 | H>Y | No |
ClinGen gnomAD |
|
|
rs913671669 CA290715121 |
341 | L>F | No |
ClinGen Ensembl |
|
|
CA8570944 COSM271201 rs782757668 |
342 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
| TCGA novel | 345 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 347 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA399540527 rs1241434868 |
353 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs782162326 CA8570943 |
355 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1555662569 CA399540481 |
357 | I>L | No |
ClinGen gnomAD |
|
| TCGA novel | 362 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1555662565 CA399540405 |
363 | S>N | No |
ClinGen gnomAD |
|
|
rs782700307 CA8570941 |
364 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA399540399 rs1488370686 |
364 | S>T | No |
ClinGen TOPMed |
|
|
rs1195172926 CA399540379 |
367 | S>C | No |
ClinGen TOPMed |
|
|
rs1555662558 CA399540378 |
367 | S>N | No |
ClinGen gnomAD |
|
|
CA399540373 rs1426828011 |
368 | P>T | No |
ClinGen TOPMed |
|
|
CA8570939 rs782341597 |
369 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA8570937 rs782261802 |
369 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA8570938 rs782341597 |
369 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs782039830 CA8570936 |
370 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA399540355 rs1479918260 |
371 | I>N | No |
ClinGen TOPMed gnomAD |
|
|
rs782410578 CA8570935 |
372 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA399540342 rs1598216245 |
373 | F>S | No |
ClinGen Ensembl |
|
|
rs1172760191 CA399540335 |
374 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs782192674 CA8570934 |
374 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA8570932 rs782708763 |
375 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8570931 rs371767581 |
375 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399540331 rs371767581 |
375 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371767581 CA399540332 |
375 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8570930 rs782656641 |
376 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs782656641 CA399540329 |
376 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA8570928 rs200815865 |
377 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200815865 CA8570929 |
377 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8570927 rs138088218 |
377 | R>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA399540320 rs1301402260 |
378 | Q>* | No |
ClinGen TOPMed |
|
|
CA8570926 rs782460075 |
378 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs781789524 CA8570925 |
379 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs369279500 CA8570923 |
380 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369279500 CA8570922 |
380 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs560098908 CA8570921 |
381 | H>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1346934489 CA399540281 |
384 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
rs144228819 CA8570918 |
388 | Q>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1555662522 CA399540250 |
389 | Q>* | No |
ClinGen gnomAD |
|
|
CA399540220 rs1555662518 |
393 | L>R | No |
ClinGen gnomAD |
|
|
CA399540221 rs1218640824 |
393 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA399540190 rs782246634 |
397 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA290715059 rs1023605313 |
398 | I>F | No |
ClinGen Ensembl |
|
|
CA8570912 rs782679234 |
398 | I>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399540182 rs201235598 |
399 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201235598 CA8570909 |
399 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs374483375 CA8570910 |
399 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA399540172 rs1422097515 |
401 | Q>* | No |
ClinGen TOPMed |
|
|
CA290715056 rs1014258145 |
402 | L>I | No |
ClinGen Ensembl |
|
|
rs781890189 CA8570905 |
404 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs782637856 CA8570906 |
404 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1387416045 CA399540139 |
406 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA8570903 rs149551882 |
407 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs199700567 CA8570901 |
410 | S>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8570899 rs782135899 |
412 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA399540090 rs1278761831 |
413 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1242229472 CA399540077 |
415 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1377310545 COSM3819611 CA399540080 |
415 | M>V | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA399540066 rs1598215983 |
417 | Q>K | No |
ClinGen Ensembl |
|
| TCGA novel | 419 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1555662367 CA399551840 |
419 | D>Y | No |
ClinGen gnomAD |
|
|
rs1447983339 CA399551830 |
420 | Q>R | No |
ClinGen TOPMed |
|
|
rs1555662366 CA399551824 |
421 | Q>* | No |
ClinGen gnomAD |
|
|
CA8570872 rs782414430 |
421 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs368648221 CA8570871 |
422 | E>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs782563834 CA8570870 |
422 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA399551798 rs1555662363 |
425 | Q>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA8570869 rs2074158 VAR_019394 |
425 | Q>R | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1555662358 CA399551793 |
426 | K>E | No |
ClinGen gnomAD |
|
|
rs1228203905 CA399551784 |
427 | F>L | No |
ClinGen TOPMed |
|
|
rs1555662355 CA399551774 |
428 | Q>R | No |
ClinGen gnomAD |
|
|
rs1555662349 CA399551766 |
429 | D>G | No |
ClinGen gnomAD |
|
|
CA8570868 rs782217497 |
429 | D>N | No |
ClinGen ExAC TOPMed |
|
|
CA8570867 rs554736482 |
431 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 432 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782301933 CA8570865 |
432 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1555662340 CA399551744 |
433 | N>T | No |
ClinGen gnomAD |
|
|
rs1555662339 CA399551738 |
434 | L>F | No |
ClinGen gnomAD |
|
|
rs782442222 CA8570863 |
436 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399551723 rs1555662338 |
437 | A>T | No |
ClinGen gnomAD |
|
|
rs572169890 COSM1679815 CA8570861 |
438 | T>K | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA8570860 rs572169890 |
438 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8570859 rs572169890 |
438 | T>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1199006421 CA399551711 |
439 | S>N | No |
ClinGen TOPMed |
|
|
COSM436620 CA8570857 rs553858409 |
441 | A>V | Variant assessed as Somatic; 4.64e-05 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs781937122 CA8570855 |
443 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA399551678 rs1568002759 |
444 | G>E | No |
ClinGen Ensembl |
|
|
rs782707068 CA8570854 |
444 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA8570852 rs141023478 |
447 | I>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs141023478 CA8570853 |
447 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA399551653 rs1167968197 |
448 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA8570850 rs782253458 |
450 | C>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 450 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs374193667 CA290740597 |
451 | N>S | No |
ClinGen gnomAD |
|
|
rs782414049 CA8570848 |
453 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1555662325 CA399551617 |
454 | V>M | No |
ClinGen gnomAD |
|
|
rs782193505 CA8570847 |
455 | R>C | No |
ClinGen ExAC TOPMed |
|
|
CA8570846 rs184346879 |
455 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs782193505 CA399551612 |
455 | R>S | No |
ClinGen ExAC TOPMed |
|
|
CA8570845 rs781890447 |
456 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs782657299 CA8570843 |
457 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1568002671 CA399551592 |
458 | L>P | No |
ClinGen Ensembl |
|
|
CA8570841 rs34016093 |
461 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8570838 rs781840105 |
465 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs567804120 CA8570837 |
467 | Q>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1555662310 CA399551531 |
467 | Q>R | No |
ClinGen gnomAD |
|
|
CA290740465 rs1057491631 |
469 | R>G | No |
ClinGen Ensembl |
|
|
rs373916109 CA8570824 |
469 | R>M | No |
ClinGen ESP ExAC gnomAD |
|
|
CA8570821 COSM3188330 rs781871634 |
471 | R>C | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1414249869 CA399551498 |
471 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA8570822 rs781871634 |
471 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399551488 rs551428365 |
473 | R>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA8570819 rs551428365 |
473 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA8570820 rs140286371 |
473 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 474 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8570817 rs151154572 |
475 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA399551473 rs1341162857 |
476 | Q>K | No |
ClinGen TOPMed |
|
|
RCV000899631 rs575525486 |
477 | S>missing | No |
ClinVar dbSNP |
|
|
rs1555662266 CA399551460 |
477 | S>T | No |
ClinGen gnomAD |
|
|
CA8570813 rs782725733 |
479 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA8570808 rs774769302 |
480 | A>E | No |
ClinGen ExAC gnomAD |
|
|
CA290740393 rs774769302 |
480 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA8570810 rs199958230 |
480 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs199958230 CA8570809 |
480 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA399551443 rs774769302 |
480 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1555662253 CA399551429 |
482 | V>G | No |
ClinGen gnomAD |
|
|
CA399551432 rs1214312370 |
482 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA290740382 rs1030384326 |
483 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA399551405 rs1555662249 |
486 | G>D | No |
ClinGen gnomAD |
|
|
CA290740381 rs112918723 |
487 | S>I | No |
ClinGen Ensembl |
|
|
rs1568002438 CA399551398 |
487 | S>R | No |
ClinGen Ensembl |
|
|
rs367778648 CA399551394 |
488 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs367778648 CA8570805 |
488 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201249468 CA8570806 |
488 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs782214531 CA8570804 |
489 | E>K | No |
ClinGen ExAC |
|
|
rs782296931 CA8570801 |
492 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782371339 CA8570802 |
492 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8570799 rs782473256 |
493 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA8570797 rs201130883 |
495 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1421574213 CA399551347 |
496 | N>I | No |
ClinGen TOPMed gnomAD |
|
|
rs149021265 CA8570795 |
497 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA290740290 rs1000765004 |
498 | A>V | No |
ClinGen gnomAD |
|
|
rs188650103 COSM979403 CA8570791 |
501 | T>M | Variant assessed as Somatic; 4.624e-05 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA8570789 rs1555662229 |
503 | M>V | No |
ClinGen Ensembl |
|
|
rs145420212 CA8570788 |
505 | Q>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1555662227 CA399551289 |
505 | Q>L | No |
ClinGen Ensembl |
|
|
rs545100093 CA8570787 |
507 | V>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA399551263 rs1218124773 |
510 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs145626818 CA8570786 |
513 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs781949725 CA8570785 |
514 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1555662216 CA399551225 |
515 | Q>E | No |
ClinGen gnomAD |
|
|
rs782393216 CA8570784 |
516 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA8570782 rs782040777 |
517 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399551167 rs1248821906 |
519 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs782135070 CA399551150 |
521 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782135070 CA8570781 |
521 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs782406125 | 522 | I>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA290739491 rs1016707819 |
522 | I>T | No |
ClinGen Ensembl |
|
|
CA8570753 VAR_019395 rs2074160 |
523 | R>Q | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA8570755 rs142453995 |
523 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA399551022 rs1555662023 |
524 | D>N | No |
ClinGen gnomAD |
|
|
rs1555662022 CA399550959 |
528 | A>E | No |
ClinGen gnomAD |
|
|
rs1555662020 CA399550933 |
530 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1555662019 CA399550922 |
531 | T>S | No |
ClinGen gnomAD |
|
|
rs782628404 CA8570751 |
532 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs150628573 CA399550899 |
533 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs150628573 CA8570749 |
533 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs550758764 CA8570750 |
533 | R>W | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA8570748 rs782720755 |
534 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs202112076 CA8570747 |
534 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399550881 rs1444495164 |
535 | A>S | No |
ClinGen TOPMed |
|
|
rs1444495164 CA399550884 |
535 | A>T | No |
ClinGen TOPMed |
|
|
CA8570745 rs782736676 |
537 | A>E | No |
ClinGen ExAC gnomAD |
|
|
CA399550856 rs1555662011 |
537 | A>T | No |
ClinGen gnomAD |
|
|
CA399550844 rs1330580644 |
538 | A>T | No |
ClinGen TOPMed |
|
|
CA8570743 rs781980872 |
538 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8570740 rs782146852 |
540 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs782798778 CA8570742 |
540 | R>W | No |
ClinGen ExAC TOPMed |
|
|
rs1555661998 CA399550807 |
541 | E>G | No |
ClinGen gnomAD |
|
|
CA399550805 rs1555661998 |
541 | E>V | No |
ClinGen gnomAD |
|
|
CA8570739 rs781934009 |
542 | N>H | No |
ClinGen ExAC gnomAD |
|
|
rs782311052 CA8570738 |
542 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1233481778 CA399550777 |
543 | Q>R | No |
ClinGen TOPMed |
|
|
rs371252206 CA8570736 |
544 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs782100781 CA8570737 |
544 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA399550761 rs1198645887 |
545 | Q>E | No |
ClinGen TOPMed |
|
|
rs782678654 CA8570732 |
546 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs112616358 CA8570733 |
546 | Q>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA399550712 rs1439684490 |
548 | P>S | No |
ClinGen TOPMed |
|
|
CA8570730 rs782188161 |
550 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1555661982 CA399550690 |
550 | E>K | No |
ClinGen gnomAD |
|
|
CA8570729 rs199922488 |
551 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA290739314 rs376214148 COSM979402 |
552 | V>M | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs781864590 CA399550627 |
554 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA399550591 rs1555661976 |
558 | N>S | No |
ClinGen gnomAD |
|
|
CA8570725 rs782558192 |
559 | C>F | No |
ClinGen ExAC gnomAD |
|
|
rs1555661969 CA399550555 |
560 | M>I | No |
ClinGen gnomAD |
|
|
CA399550532 rs1190261350 |
562 | A>S | No |
ClinGen TOPMed |
|
|
rs1555661963 CA399550529 |
562 | A>V | No |
ClinGen gnomAD |
|
|
CA8570721 rs781837202 |
567 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1598213537 CA399550451 |
568 | D>A | No |
ClinGen Ensembl |
|
|
rs1397093524 CA399550447 |
568 | D>E | No |
ClinGen TOPMed |
|
|
CA399550459 rs1167300738 |
568 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs939142574 CA290739269 |
570 | R>Q | No |
ClinGen Ensembl |
|
|
CA8570718 rs782036902 |
570 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1598213514 CA399550398 |
572 | V>G | No |
ClinGen Ensembl |
|
|
rs1354196428 CA399550374 |
574 | G>A | No |
ClinGen TOPMed |
|
|
rs1354196428 CA399550372 |
574 | G>V | No |
ClinGen TOPMed |
|
|
rs782070543 CA399550352 |
576 | H>P | No |
ClinGen ExAC gnomAD |
|
|
rs782070543 CA8570716 |
576 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA399550339 rs527571291 |
577 | H>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8570715 rs527571291 |
577 | H>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA399550322 rs1294729420 |
578 | V>G | No |
ClinGen TOPMed |
|
|
rs782366581 CA8570714 |
579 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399550313 rs1555661944 |
579 | N>S | No |
ClinGen gnomAD |
|
|
rs782221859 CA399550299 COSM1383298 |
580 | V>A | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA8570713 rs782221859 |
580 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8570711 rs782369407 |
582 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782645083 CA8570712 |
582 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1555661937 CA399550268 |
583 | N>D | No |
ClinGen gnomAD |
|
|
CA8570710 rs782285677 |
583 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782671059 CA8570709 |
585 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA8570678 rs146040109 |
587 | Y>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1555661694 CA399549275 |
587 | Y>S | No |
ClinGen gnomAD |
|
|
rs1268542085 CA399549252 |
588 | Y>C | No |
ClinGen TOPMed |
|
|
rs1555661692 CA399549163 |
592 | R>S | No |
ClinGen gnomAD |
|
|
rs782145726 CA8570677 |
593 | D>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 596 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 596 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA399549057 rs1272450118 |
599 | K>E | No |
ClinGen TOPMed |
|
|
CA290738265 rs996683567 CA399549045 |
599 | K>N | No |
ClinGen TOPMed |
|
|
rs1192462855 CA399549044 |
600 | V>F | No |
ClinGen TOPMed |
|
|
rs782702878 CA8570675 |
603 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA399548950 rs1555661685 |
604 | W>C | No |
ClinGen gnomAD |
|
|
CA399548936 rs1418165632 |
605 | K>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1182071292 CA399548918 |
606 | P>A | No |
ClinGen TOPMed |
|
|
rs1414731330 CA399548891 |
607 | G>A | No |
ClinGen TOPMed |
|
|
CA8570674 rs139963886 |
608 | G>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA399548842 rs1395880803 |
610 | I>F | No |
ClinGen TOPMed |
|
|
CA8570672 rs782383661 |
611 | S>I | No |
ClinGen ExAC gnomAD |
|
|
rs9807056 CA8570671 |
611 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA399548782 rs1296525755 |
613 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1395790397 CA399548749 |
615 | C>S | No |
ClinGen TOPMed |
|
|
CA8570667 rs782621199 |
616 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA8570668 rs145445108 |
616 | G>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs947180513 CA290738190 |
617 | E>K | No |
ClinGen Ensembl |
|
|
CA399548613 rs1555661637 |
619 | W>R | No |
ClinGen gnomAD |
|
|
CA8570653 rs781917445 |
620 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1555661636 CA399548602 |
620 | G>S | No |
ClinGen gnomAD |
|
|
rs782357714 CA8570652 |
621 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
rs782080168 CA8570651 |
623 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs781996971 CA8570650 |
623 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA399548513 rs1555661632 |
625 | Y>C | No |
ClinGen gnomAD |
|
|
CA290738015 rs111241943 |
626 | K>R | No |
ClinGen gnomAD |
|
|
CA399548473 rs1555661629 |
627 | S>L | No |
ClinGen gnomAD |
|
|
rs542067143 CA290737992 |
628 | V>A | No |
ClinGen 1000Genomes |
|
|
CA8570648 rs368613039 |
631 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs782664534 CA8570647 |
636 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs575052653 CA8570646 |
636 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs575052653 CA399548391 |
636 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8570645 rs782186420 |
637 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1278853744 CA399548378 |
638 | M>V | No |
ClinGen TOPMed |
|
|
CA399548285 rs1555661603 COSM979401 |
646 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs892878434 CA290737947 |
646 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA399548271 rs782471953 |
647 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs781876679 CA8570641 |
649 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA399548224 rs1568000721 |
651 | K>N | No |
ClinGen Ensembl |
|
|
CA399548216 rs1241822335 |
652 | W>S | No |
ClinGen TOPMed |
|
|
rs782641744 CA8570640 |
653 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs138463087 CA8570639 |
654 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8570638 rs117253612 |
654 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8570636 rs370606086 |
655 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs905387350 CA290737907 |
656 | P>A | No |
ClinGen Ensembl |
|
|
CA8570635 rs781819645 |
657 | F>V | No |
ClinGen ExAC gnomAD |
|
|
COSM1284491 CA8570632 rs782024476 |
659 | V>L | autonomic_ganglia [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1555661586 CA399548128 |
661 | D>A | No |
ClinGen gnomAD |
|
|
rs1555661586 CA399548127 |
661 | D>G | No |
ClinGen gnomAD |
|
|
rs1555661586 CA399548125 |
661 | D>V | No |
ClinGen gnomAD |
|
|
CA399548129 rs1156677045 |
661 | D>Y | No |
ClinGen TOPMed |
|
|
CA399548091 rs1344329927 |
664 | F>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA399548068 rs1555661578 |
666 | Q>P | No |
ClinGen gnomAD |
|
|
CA399548057 rs1555661576 |
667 | H>Y | No |
ClinGen gnomAD |
|
|
CA8570628 rs142360007 |
670 | E>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1555661573 CA399548020 |
670 | E>A | No |
ClinGen gnomAD |
|
|
rs142360007 CA8570627 |
670 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA399548023 rs142360007 |
670 | E>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8570625 rs782654678 |
671 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs782295988 CA8570623 |
673 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs147121502 CA8570621 |
673 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8570622 rs782295988 |
673 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA399547986 rs147121502 |
673 | S>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs782516612 CA8570617 |
674 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs782516612 CA399547975 |
674 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA290737805 rs908785758 |
675 | L>F | No |
ClinGen TOPMed |
|
|
rs1555661564 CA399547952 |
676 | S>C | No |
ClinGen gnomAD |
|
|
CA8570614 rs782806056 |
677 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA8570615 rs781849236 |
677 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1211164367 CA399547941 |
678 | D>H | No |
ClinGen TOPMed |
|
|
rs1211164367 CA399547942 |
678 | D>Y | No |
ClinGen TOPMed |
No associated diseases with Q96C10
5 regional properties for Q96C10
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Helicase, C-terminal | 350 - 514 | IPR001650 |
| domain | Helicase/UvrB, N-terminal | 1 - 170 | IPR006935 |
| domain | Helicase superfamily 1/2, ATP-binding domain | 2 - 195 | IPR014001 |
| domain | RIG-I-like receptor, C-terminal regulatory domain | 539 - 669 | IPR021673 |
| domain | RIG-I-like receptor, C-terminal | 216 - 342 | IPR041204 |
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 | |
1 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
7 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. |
| DNA binding | Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid). |
| double-stranded RNA binding | Binding to double-stranded RNA. |
| RNA helicase activity | Unwinding of an RNA helix, driven by ATP hydrolysis. |
| single-stranded RNA binding | Binding to single-stranded RNA. |
| zinc ion binding | Binding to a zinc ion (Zn). |
13 GO annotations of biological process
| Name | Definition |
|---|---|
| cytoplasmic pattern recognition receptor signaling pathway in response to virus | The series of molecular signals initiated by the binding of a virus or viral RNA binding to a pattern recognition receptor (PRR) located in the cytoplasm. Cytosolic PRRs such as RIG-I (DDX58) and MDA-5 (IFIH1) detect RNA synthesized during active viral replication and trigger a signaling pathway to protect the host against viral infection, for example by inducing the expression of antiviral cytokines. |
| innate immune response | Innate immune responses are defense responses mediated by germline encoded components that directly recognize components of potential pathogens. |
| negative regulation of innate immune response | Any process that stops, prevents, or reduces the frequency, rate or extent of the innate immune response. |
| negative regulation of MDA-5 signaling pathway | Any process that stops, prevents, or reduces the frequency, rate or extent of the series of the MDA-5 signaling pathway. |
| negative regulation of RIG-I signaling pathway | Any process that stops, prevents, or reduces the frequency, rate or extent of the RIG-I signaling pathway. |
| negative regulation of type I interferon production | Any process that stops, prevents, or reduces the frequency, rate, or extent of type I interferon production. Type I interferons include the interferon-alpha, beta, delta, episilon, zeta, kappa, tau, and omega gene families. |
| positive regulation of interferon-beta production | Any process that activates or increases the frequency, rate, or extent of interferon-beta production. |
| positive regulation of MDA-5 signaling pathway | Any process that activates or increases the frequency, rate or extent of MDA-5 signaling pathway. |
| positive regulation of RIG-I signaling pathway | Any process that activates or increases the frequency, rate or extent of RIG-I signaling pathway. |
| positive regulation of type I interferon production | Any process that activates or increases the frequency, rate, or extent of type I interferon production. Type I interferons include the interferon-alpha, beta, delta, episilon, zeta, kappa, tau, and omega gene families. |
| regulation of innate immune response | Any process that modulates the frequency, rate or extent of the innate immune response, the organism's first line of defense against infection. |
| response to bacterium | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus from a bacterium. |
| response to virus | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus from a virus. |
8 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| O95786 | RIGI | Antiviral innate immune response receptor RIG-I | Homo sapiens (Human) | EV |
| Q9BYX4 | IFIH1 | Interferon-induced helicase C domain-containing protein 1 | Homo sapiens (Human) | PR |
| Q9UPY3 | DICER1 | Endoribonuclease Dicer | Homo sapiens (Human) | EV |
| Q6Q899 | Ddx58 | Antiviral innate immune response receptor RIG-I | Mus musculus (Mouse) | SS |
| Q8R5F7 | Ifih1 | Interferon-induced helicase C domain-containing protein 1 | Mus musculus (Mouse) | PR |
| Q9GLV6 | DDX58 | Antiviral innate immune response receptor RIG-I | Sus scrofa (Pig) | SS |
| P34529 | dcr-1 | Endoribonuclease dcr-1 | Caenorhabditis elegans | PR |
| Q6TV19 | dicer1 | Endoribonuclease Dicer | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MELRSYQWEV | IMPALEGKNI | IIWLPTGAGK | TRAAAYVAKR | HLETVDGAKV | VVLVNRVHLV |
| 70 | 80 | 90 | 100 | 110 | 120 |
| TQHGEEFRRM | LDGRWTVTTL | SGDMGPRAGF | GHLARCHDLL | ICTAELLQMA | LTSPEEEEHV |
| 130 | 140 | 150 | 160 | 170 | 180 |
| ELTVFSLIVV | DECHHTHKDT | VYNVIMSQYL | ELKLQRAQPL | PQVLGLTASP | GTGGASKLDG |
| 190 | 200 | 210 | 220 | 230 | 240 |
| AINHVLQLCA | NLDTWCIMSP | QNCCPQLQEH | SQQPCKQYNL | CHRRSQDPFG | DLLKKLMDQI |
| 250 | 260 | 270 | 280 | 290 | 300 |
| HDHLEMPELS | RKFGTQMYEQ | QVVKLSEAAA | LAGLQEQRVY | ALHLRRYNDA | LLIHDTVRAV |
| 310 | 320 | 330 | 340 | 350 | 360 |
| DALAALQDFY | HREHVTKTQI | LCAERRLLAL | FDDRKNELAH | LATHGPENPK | LEMLEKILQR |
| 370 | 380 | 390 | 400 | 410 | 420 |
| QFSSSNSPRG | IIFTRTRQSA | HSLLLWLQQQ | QGLQTVDIRA | QLLIGAGNSS | QSTHMTQRDQ |
| 430 | 440 | 450 | 460 | 470 | 480 |
| QEVIQKFQDG | TLNLLVATSV | AEEGLDIPHC | NVVVRYGLLT | NEISMVQARG | RARADQSVYA |
| 490 | 500 | 510 | 520 | 530 | 540 |
| FVATEGSREL | KRELINEALE | TLMEQAVAAV | QKMDQAEYQA | KIRDLQQAAL | TKRAAQAAQR |
| 550 | 560 | 570 | 580 | 590 | 600 |
| ENQRQQFPVE | HVQLLCINCM | VAVGHGSDLR | KVEGTHHVNV | NPNFSNYYNV | SRDPVVINKV |
| 610 | 620 | 630 | 640 | 650 | 660 |
| FKDWKPGGVI | SCRNCGEVWG | LQMIYKSVKL | PVLKVRSMLL | ETPQGRIQAK | KWSRVPFSVP |
| 670 | |||||
| DFDFLQHCAE | NLSDLSLD |