Q9NRZ9
PR
Gene name |
HELLS |
Protein name |
Lymphoid-specific helicase |
Names |
Proliferation-associated SNF2-like protein, SWI/SNF2-related matrix-associated actin-dependent regulator of chromatin subfamily A member 6 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:3070 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for Q9NRZ9
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9NRZ9-F1 | Predicted | AlphaFoldDB |
458 variants for Q9NRZ9
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV003224486 rs113154675 RCV000889044 |
1 | M>T | Immunodeficiency-centromeric instability-facial anomalies syndrome 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA5615247 RCV000973245 RCV001803181 rs148139900 |
112 | G>S | Immunodeficiency-centromeric instability-facial anomalies syndrome 4 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA10576024 rs879253736 RCV000210917 |
128 | K>* | Immunodeficiency-centromeric instability-facial anomalies syndrome 4 [ClinVar] | Yes |
ClinVar dbSNP ClinGen Ensembl |
|
CA10576023 rs879253735 RCV000210911 |
204 | K>* | Immunodeficiency-centromeric instability-facial anomalies syndrome 4 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA5615465 RCV001000599 rs146569050 RCV002549136 RCV001344124 |
420 | L>V | Immunodeficiency-centromeric instability-facial anomalies syndrome 4 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001329040 rs145020994 RCV001863196 CA5615536 |
513 | R>G | Immunodeficiency-centromeric instability-facial anomalies syndrome 4 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001351664 CA5615636 RCV002547534 rs772237527 |
663 | T>M | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001293851 rs1845596397 |
693 | D>Y | Immunodeficiency-centromeric instability-facial anomalies syndrome 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs879253733 CA10576020 RCV000210912 VAR_076582 |
699 | Q>R | Immunodeficiency-centromeric instability-facial anomalies syndrome 4 ICF4; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000947272 RCV003224496 CA5615666 rs116043383 |
728 | I>V | Immunodeficiency-centromeric instability-facial anomalies syndrome 4 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs879253734 RCV000210919 |
762 | S>missing | Immunodeficiency-centromeric instability-facial anomalies syndrome 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002517446 rs879253737 RCV000210910 |
801 | L>missing | Immunodeficiency-centromeric instability-facial anomalies syndrome 4 [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_076583 | 801 | L>del | ICF4; unknown pathological significance [UniProt] | Yes | UniProt |
|
rs756942688 CA5615117 |
2 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377660739 rs1401950747 |
2 | P>T | No |
ClinGen gnomAD |
|
|
CA377660748 rs1364094668 |
3 | A>G | No |
ClinGen gnomAD |
|
|
rs1305417795 CA377660759 |
5 | R>Q | No |
ClinGen gnomAD |
|
|
CA5615118 rs778232211 |
5 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1261249902 CA377660778 |
8 | G>D | No |
ClinGen gnomAD |
|
|
CA5615119 rs745372372 |
9 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1207033998 CA377660785 |
9 | S>R | No |
ClinGen gnomAD |
|
|
rs1266313394 CA377660790 |
10 | G>D | No |
ClinGen gnomAD |
|
|
rs1043925031 RCV001315507 |
11 | G>C | No |
ClinVar dbSNP |
|
|
rs1043925031 CA211665259 |
11 | G>R | No |
ClinGen TOPMed |
|
| TCGA novel | 11 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1042220512 CA211665529 |
12 | S>L | No |
ClinGen Ensembl |
|
|
rs779737193 CA5615141 |
13 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA5615143 rs756701970 |
15 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA5615144 rs773580902 |
16 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377661016 rs773580902 |
16 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 16 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA211665552 rs373002902 |
17 | M>V | No |
ClinGen ESP TOPMed |
|
| TCGA novel | 18 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1474859856 CA377661064 |
20 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1251746193 CA377661099 |
23 | T>I | No |
ClinGen gnomAD |
|
|
CA377661094 rs1165685196 |
23 | T>S | No |
ClinGen gnomAD |
|
|
CA5615148 rs537870367 |
24 | A>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1422932564 CA377661138 |
27 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1422932564 CA377661135 |
27 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
CA377661179 rs1167710648 |
31 | L>R | No |
ClinGen gnomAD |
|
|
CA377661174 rs776501461 |
31 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377661196 rs1451815614 |
33 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1589691905 CA377661230 |
36 | Q>E | No |
ClinGen Ensembl |
|
|
rs761641371 CA5615154 |
36 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA211665617 rs1057071913 |
37 | L>R | No |
ClinGen Ensembl |
|
|
rs75480462 CA211665623 |
39 | A>G | No |
ClinGen gnomAD |
|
|
CA377661269 rs1377101025 |
40 | A>T | No |
ClinGen gnomAD |
|
|
rs894456105 CA211665630 |
40 | A>V | No |
ClinGen Ensembl |
|
|
rs764961721 CA5615155 |
41 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA211665639 rs976248290 |
42 | L>R | No |
ClinGen TOPMed |
|
|
CA377661307 rs1414938106 |
44 | R>K | No |
ClinGen TOPMed |
|
|
CA377661313 rs1565007736 |
44 | R>S | No |
ClinGen Ensembl |
|
|
rs1414938106 CA377661310 |
44 | R>T | No |
ClinGen TOPMed |
|
|
rs758124336 CA5615157 |
45 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758124336 CA5615158 |
45 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5615156 rs750048312 |
45 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA211665664 rs200269841 |
46 | R>W | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs754600385 CA5615160 |
48 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA5615186 rs141169560 |
53 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5615187 rs780221772 COSM1349982 |
53 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs780221772 CA377650894 |
53 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1273434942 CA377650918 |
54 | M>I | No |
ClinGen gnomAD |
|
|
rs747283119 CA5615188 |
54 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5615189 rs768738765 |
56 | W>S | No |
ClinGen ExAC gnomAD |
|
|
rs781134124 CA5615190 |
57 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781134124 CA377650998 |
57 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377651058 rs1326495501 |
59 | E>K | No |
ClinGen gnomAD |
|
|
CA5615192 rs145174432 |
60 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1469523827 CA377651126 |
62 | E>Q | No |
ClinGen gnomAD |
|
|
rs1438287151 CA377651177 |
63 | I>V | No |
ClinGen TOPMed |
|
|
COSM240096 CA377651202 rs1245886144 |
64 | R>W | prostate [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA377651248 rs1589702532 |
65 | Y>D | No |
ClinGen Ensembl |
|
|
rs770896821 CA5615195 |
66 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5615196 rs138927664 |
66 | R>H | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 67 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA211641047 rs966119941 |
69 | Q>* | No |
ClinGen Ensembl |
|
|
rs11188019 CA377651698 |
77 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 83 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5615199 rs752164311 |
84 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1227308141 CA377651982 |
90 | Q>* | No |
ClinGen gnomAD |
|
|
CA5615222 rs541785450 |
94 | Q>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 99 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 99 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 100 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA211643544 rs945802648 |
101 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA377654126 rs1194597056 |
102 | R>K | No |
ClinGen gnomAD |
|
| TCGA novel | 104 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5615226 rs753013064 |
105 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA5615225 rs767602146 |
105 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA5615228 rs778030963 |
106 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA5615229 rs377378282 |
106 | S>F | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 108 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA377654217 rs1318127302 |
108 | K>R | No |
ClinGen gnomAD |
|
|
CA377654230 rs1452977946 |
110 | K>R | No |
ClinGen TOPMed |
|
|
CA377654238 rs1387380731 |
111 | K>T | No |
ClinGen gnomAD |
|
|
rs148139900 CA377655160 |
112 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200659324 CA5615249 |
114 | N>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs141686502 CA5615250 |
115 | S>P | No |
ClinGen ESP ExAC gnomAD |
|
|
COSM1209512 rs200134892 CA5615252 |
116 | I>T | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC |
|
rs147153698 CA5615251 |
116 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs888754330 CA211647508 |
117 | D>G | No |
ClinGen TOPMed |
|
|
CA5615253 rs768279945 |
118 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377655308 rs1179443675 |
119 | S>C | No |
ClinGen gnomAD |
|
|
CA211647550 rs1020041838 |
121 | E>G | No |
ClinGen Ensembl |
|
| TCGA novel | 125 | M>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA211647682 rs958891406 |
125 | M>I | No |
ClinGen Ensembl |
|
|
CA5615267 rs761965198 |
125 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765384209 CA5615268 |
126 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs1422878670 CA377655468 |
127 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 128 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757191914 RCV001213800 |
129 | R>missing | No |
ClinVar dbSNP |
|
| TCGA novel | 129 | R>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 129 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs750291944 CA5615270 |
132 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA5615271 rs758366340 |
134 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA5615272 rs202140546 |
137 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1375926971 CA377655658 |
144 | K>E | No |
ClinGen gnomAD |
|
|
CA5615273 rs751363478 |
145 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1419761700 CA377657815 |
146 | E>* | No |
ClinGen Ensembl |
|
|
rs776946604 CA5615287 |
147 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1433426013 CA377657875 |
149 | S>T | No |
ClinGen gnomAD |
|
|
CA211654801 rs968345662 |
150 | V>A | No |
ClinGen Ensembl |
|
|
rs760959215 CA5615288 |
150 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1368971434 CA377657887 |
151 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1368971434 CA377657885 |
151 | A>T | No |
ClinGen TOPMed gnomAD |
|
| rs775038246 | 154 | N>I | Variant assessed as Somatic; 9.424e-05 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 154 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs750499200 CA5615293 |
157 | E>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 158 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5615294 rs763005862 |
159 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA377658949 rs767241197 |
160 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5615318 rs767241197 |
160 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755929983 CA5615321 |
163 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752476171 CA5615320 |
163 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs755929983 CA5615322 |
163 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377659033 rs1163114791 |
164 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
CA5615323 rs753484878 |
165 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377659079 rs1430928557 |
166 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1430928557 CA377659075 |
166 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1348121888 CA377659115 |
168 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA377659126 rs1440748520 |
169 | C>G | No |
ClinGen gnomAD |
|
|
CA377659134 rs778600918 |
169 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA5615325 rs778600918 |
169 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA5615326 rs747456467 |
171 | E>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 172 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5615327 rs755559194 |
173 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA377659313 rs1342849171 |
179 | S>A | No |
ClinGen gnomAD |
|
|
rs781780355 CA5615328 COSM921714 |
179 | S>L | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 184 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1482120787 CA377659358 |
185 | D>G | No |
ClinGen gnomAD |
|
|
rs142677560 CA5615331 |
190 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5615332 rs142677560 |
190 | T>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA377659407 rs1180526739 |
193 | Q>E | No |
ClinGen gnomAD |
|
|
rs1450435768 CA377659443 |
197 | F>L | No |
ClinGen gnomAD |
|
|
CA377659442 rs1385029658 |
197 | F>Y | No |
ClinGen gnomAD |
|
|
CA377659445 rs1171041972 |
198 | F>I | No |
ClinGen gnomAD |
|
|
rs956744357 CA211656708 |
198 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1187594412 CA377659457 |
199 | F>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 203 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1264527962 CA377659481 |
203 | R>W | No |
ClinGen gnomAD |
|
|
CA211656750 rs1055169063 |
204 | K>N | No |
ClinGen Ensembl |
|
|
rs759670581 CA5615335 |
205 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA5615336 rs767439235 |
206 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1308854161 COSM3770712 CA377659501 |
206 | N>S | pancreas Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs894904604 CA211656754 |
207 | G>C | No |
ClinGen Ensembl |
|
|
rs1276272093 CA377659513 |
208 | Q>P | No |
ClinGen TOPMed |
|
|
rs147348208 CA5615337 |
209 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA377659530 rs1365705057 COSM198894 |
210 | V>I | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1589731157 CA377659574 |
212 | F>C | No |
ClinGen Ensembl |
|
|
rs760498787 CA5615338 |
212 | F>V | No |
ClinGen ExAC gnomAD |
|
|
rs1368221972 CA377659585 |
213 | Q>* | No |
ClinGen TOPMed |
|
|
rs753493390 CA5615340 |
222 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1195370295 CA377659848 |
223 | M>I | No |
ClinGen gnomAD |
|
|
CA377659872 rs1466354150 COSM3808057 |
224 | R>Q | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs1279408343 CA377659937 |
228 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 232 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1444146912 CA377660019 |
232 | E>Q | No |
ClinGen gnomAD |
|
|
CA377660448 rs1340339705 |
256 | V>I | No |
ClinGen TOPMed |
|
|
CA5615355 rs760563346 RCV001343410 |
259 | I>V | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA5615356 rs768434287 |
261 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776307280 CA5615357 |
262 | I>T | No |
ClinGen ExAC TOPMed |
|
|
CA211657047 rs1022275197 |
262 | I>V | No |
ClinGen TOPMed |
|
|
CA5615358 rs761729522 |
263 | A>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 265 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 270 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 270 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs986265069 CA211657131 |
282 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1403224288 CA377660629 |
284 | P>S | No |
ClinGen gnomAD |
|
|
rs1403224288 CA377660627 |
284 | P>T | No |
ClinGen gnomAD |
|
|
CA377660647 rs1330145415 |
286 | W>* | No |
ClinGen gnomAD |
|
|
rs1197018168 CA377660655 |
287 | M>T | No |
ClinGen TOPMed |
|
|
CA377660659 rs1230474677 |
288 | A>T | No |
ClinGen gnomAD |
|
|
CA377660706 rs1317468639 |
294 | T>S | No |
ClinGen TOPMed |
|
|
rs1259113710 CA377660720 |
296 | D>G | No |
ClinGen gnomAD |
|
|
CA211658816 rs886158385 |
298 | P>R | No |
ClinGen TOPMed |
|
|
rs761675110 CA5615376 |
299 | T>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs535102456 CA5615377 |
300 | M>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1041580881 CA211658835 |
300 | M>V | No |
ClinGen Ensembl |
|
|
RCV000915033 CA5615379 rs200482346 |
305 | T>A | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA5615380 rs200482346 |
305 | T>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5615381 rs773719571 |
307 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA211658880 rs749481100 |
309 | R>C | No |
ClinGen gnomAD |
|
|
rs759151955 CA377660897 |
310 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5615384 rs754419257 |
313 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs757569911 CA5615385 |
316 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA5615387 rs765622878 |
317 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5615386 rs765622878 |
317 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747059168 CA5615390 |
319 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377660955 rs747059168 |
319 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs555694666 CA5615389 |
319 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5615391 rs201040701 |
320 | K>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 322 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1439127169 CA377661027 |
324 | Q>R | No |
ClinGen TOPMed |
|
|
rs1372273537 CA377661051 |
325 | I>T | No |
ClinGen gnomAD |
|
|
rs1296521550 COSM3935233 CA377661129 |
330 | I>V | oesophagus [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs139215283 CA5615393 |
331 | T>M | No |
ClinGen ESP ExAC gnomAD |
|
|
CA211659052 rs78890972 |
334 | E>K | No |
ClinGen Ensembl |
|
|
rs1171137888 CA377661318 |
340 | R>G | No |
ClinGen TOPMed |
|
|
COSM168670 CA377661321 rs1245640265 |
340 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA211659054 rs757695351 |
341 | N>H | No |
ClinGen Ensembl |
|
|
CA377661349 rs1344897044 |
342 | A>T | No |
ClinGen gnomAD |
|
|
rs770460162 CA5615397 COSM1349985 |
342 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA211659080 rs1014094607 |
344 | Q>K | No |
ClinGen Ensembl |
|
|
rs763173493 CA5615424 |
346 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs377515394 CA5615426 |
347 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 347 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1180504505 CA377661668 |
349 | K>R | No |
ClinGen TOPMed |
|
| TCGA novel | 353 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5615428 rs371141511 |
361 | N>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1480111803 CA377661894 |
365 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1039050797 CA211668271 |
365 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA5615434 rs778798642 |
367 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs745459994 CA5615435 |
370 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs771730256 CA5615436 |
372 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5615437 rs771730256 |
372 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1177496694 CA377661978 |
373 | F>S | No |
ClinGen gnomAD |
|
|
CA5615438 rs746514599 |
374 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs768173330 CA5615439 |
375 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA377662025 rs1236198565 |
380 | L>V | No |
ClinGen TOPMed |
|
|
CA377662049 rs1252907222 |
384 | T>P | No |
ClinGen Ensembl |
|
|
CA377662074 rs1370686959 |
387 | Q>H | No |
ClinGen gnomAD |
|
|
CA5615441 rs763549682 |
389 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1330968874 CA377662116 |
393 | L>R | No |
ClinGen TOPMed |
|
|
CA5615444 rs759860010 |
394 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA211668343 rs773907756 |
399 | F>L | No |
ClinGen Ensembl |
|
| TCGA novel | 405 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA211669409 rs147615331 |
416 | D>N | No |
ClinGen 1000Genomes gnomAD |
|
|
CA5615463 rs746232049 |
417 | I>S | No |
ClinGen ExAC gnomAD |
|
|
rs1407812300 CA377662306 |
418 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1407812300 CA377662307 |
418 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs144298342 CA5615464 |
419 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1365590504 CA377662338 |
423 | T>A | No |
ClinGen gnomAD |
|
|
rs1301798399 CA377662366 |
427 | I>V | No |
ClinGen TOPMed |
|
|
CA211669444 rs932446229 |
428 | I>V | No |
ClinGen Ensembl |
|
| TCGA novel | 433 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1317830811 CA377664031 |
449 | L>V | No |
ClinGen gnomAD |
|
| TCGA novel | 454 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 460 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs980745949 CA377664166 |
464 | R>* | No |
ClinGen TOPMed |
|
|
rs773165542 CA5615488 |
464 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1589753370 CA377664195 |
466 | V>A | No |
ClinGen Ensembl |
|
|
CA211673085 rs779583208 |
466 | V>I | No |
ClinGen gnomAD |
|
|
CA5615489 rs762904124 |
467 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1333262815 CA377664215 |
468 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 469 | Y>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA211673106 rs141236428 |
471 | P>L | No |
ClinGen ESP TOPMed |
|
|
rs374850005 CA5615492 |
471 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA377664274 rs1373719401 |
473 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
rs748625291 CA5615493 |
474 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1396007773 CA377664393 |
480 | Y>C | No |
ClinGen gnomAD |
|
|
rs1396007773 CA377664394 |
480 | Y>S | No |
ClinGen gnomAD |
|
|
CA377664409 rs1339092391 |
481 | T>I | No |
ClinGen gnomAD |
|
|
CA211673138 rs76480828 |
481 | T>P | No |
ClinGen Ensembl |
|
|
rs755585923 CA5615495 |
483 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA211673150 rs960508861 |
486 | R>C | No |
ClinGen Ensembl |
|
|
CA5615496 rs777178711 |
486 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs1308769185 CA377664487 |
488 | I>F | No |
ClinGen gnomAD |
|
|
CA5615497 rs746327837 |
489 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs758948723 CA5615498 |
491 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747372074 CA5615500 |
493 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs769197558 CA5615501 |
496 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA377665431 rs1161929639 |
499 | T>I | No |
ClinGen TOPMed |
|
|
CA5615529 rs775124872 |
500 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5615531 rs753103929 |
504 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1314843352 CA377665530 |
507 | R>* | No |
ClinGen gnomAD |
|
|
CA5615532 rs368865793 |
507 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA377665566 rs1259193653 |
510 | R>Q | No |
ClinGen TOPMed |
|
|
CA211674875 rs761345851 |
511 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs372532589 CA5615534 COSM3415382 |
511 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA gnomAD |
|
CA5615535 rs76040812 |
512 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1267119123 CA377665586 |
512 | T>S | No |
ClinGen gnomAD |
|
|
CA377665646 rs1410622211 |
517 | N>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA377665696 rs1417658714 |
520 | K>T | No |
ClinGen gnomAD |
|
|
CA377665718 rs1158595486 |
521 | I>M | No |
ClinGen gnomAD |
|
|
rs781744103 CA5615537 |
522 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs189788350 CA5615538 |
523 | D>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA377665771 rs1300735603 |
525 | P>R | No |
ClinGen gnomAD |
|
|
rs777916236 CA5615540 |
529 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA211674939 rs779723612 |
532 | I>M | No |
ClinGen TOPMed |
|
|
rs1390621847 CA377665913 |
534 | Q>R | No |
ClinGen TOPMed |
|
|
CA5615541 rs749516104 |
536 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
CA5615542 rs757287830 |
537 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA211675000 rs903350276 |
539 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA377666014 rs903350276 |
539 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
CA5615543 rs778985770 |
540 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs771870783 CA5615545 |
541 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5615559 rs376323192 |
544 | A>G | No |
ClinGen ESP ExAC gnomAD |
|
|
CA5615558 rs754012040 |
544 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA377666188 rs1187757266 |
546 | V>E | No |
ClinGen TOPMed gnomAD |
|
|
CA377666181 rs1324771157 |
546 | V>M | No |
ClinGen TOPMed |
|
|
CA377666196 rs1055105277 |
547 | E>K | No |
ClinGen TOPMed |
|
|
CA211675133 rs1055105277 |
547 | E>Q | No |
ClinGen TOPMed |
|
|
rs1464788442 CA377666247 |
549 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1176622381 CA377666275 |
550 | I>M | No |
ClinGen gnomAD |
|
|
rs1408066952 CA377666292 |
552 | V>L | No |
ClinGen gnomAD |
|
| TCGA novel | 553 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA377666346 rs1188474786 |
555 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 556 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs779145900 CA5615560 |
558 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1272015963 CA377666439 |
560 | L>P | No |
ClinGen gnomAD |
|
|
CA5615562 rs752068937 |
563 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA377666527 rs1206050015 |
564 | M>I | No |
ClinGen Ensembl |
|
|
rs779795210 CA5615563 |
565 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA377666596 rs1284553236 |
568 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs151242775 CA5615564 |
568 | R>H | No |
ClinGen ESP ExAC TOPMed |
|
|
CA377666621 rs1199065710 |
569 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 574 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5615566 rs776548060 |
581 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs748000028 CA5615567 |
582 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377666793 rs1158297413 |
582 | D>Y | No |
ClinGen gnomAD |
|
|
rs1239862266 CA377666803 |
583 | P>T | No |
ClinGen gnomAD |
|
|
CA5615569 rs773060157 |
584 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA377666872 rs1311651120 |
588 | F>V | No |
ClinGen TOPMed gnomAD |
|
|
rs140653245 CA5615570 |
589 | K>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1244178434 CA377666911 |
591 | D>G | No |
ClinGen TOPMed |
|
|
rs749001760 CA5615590 |
591 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1336748121 CA377666914 |
592 | E>K | No |
ClinGen gnomAD |
|
|
CA377666924 rs1185790199 |
593 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs770300654 CA5615591 |
593 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs1307765936 CA377666936 |
595 | V>I | No |
ClinGen gnomAD |
|
|
rs773891544 CA5615593 |
597 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA5615592 rs773891544 |
597 | N>H | No |
ClinGen ExAC gnomAD |
|
|
rs1247946299 COSM1662121 CA377666975 |
601 | F>L | kidney [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs777180294 CA5615595 |
601 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
CA377667012 rs948418095 |
606 | R>L | No |
ClinGen TOPMed |
|
|
CA211676252 rs948418095 |
606 | R>Q | No |
ClinGen TOPMed |
|
|
rs868483039 CA211676259 |
607 | M>I | No |
ClinGen Ensembl |
|
|
CA211676257 rs752060007 |
607 | M>T | No |
ClinGen Ensembl |
|
|
rs762107312 CA5615596 |
609 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA377667057 rs1227344266 |
613 | K>R | No |
ClinGen TOPMed |
|
| rs745837238 | 614 | R>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1359668506 CA377667062 |
614 | R>K | No |
ClinGen TOPMed |
|
|
CA377667071 rs1250772685 |
615 | G>D | No |
ClinGen gnomAD |
|
| VAR_064720 | 616 | H>R | found in a renal cell carcinoma sample; somatic mutation [UniProt] | No | UniProt |
|
CA211676385 rs762372546 |
619 | L>V | No |
ClinGen Ensembl |
|
| TCGA novel | 622 | S>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA211676406 rs967920934 |
625 | T>A | No |
ClinGen TOPMed |
|
|
CA5615612 rs770585431 |
626 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 629 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1253970383 CA377667201 |
632 | M>T | No |
ClinGen gnomAD |
|
|
CA5615613 rs150471383 |
632 | M>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA377667226 rs1186924446 |
635 | C>F | No |
ClinGen gnomAD |
|
|
rs1490427776 CA377667233 |
636 | H>R | No |
ClinGen TOPMed |
|
| TCGA novel | 637 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA377667243 rs1373911161 |
638 | R>G | No |
ClinGen gnomAD |
|
|
CA5615615 rs771583849 |
641 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs762334538 CA5615617 |
646 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA377667323 rs1202764485 |
649 | M>V | No |
ClinGen TOPMed |
|
|
CA377667330 rs1339321095 |
650 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
CA377667347 rs1295695332 |
652 | S>* | No |
ClinGen gnomAD |
|
|
CA377667344 rs1395007498 |
652 | S>T | No |
ClinGen gnomAD |
|
|
rs1327605600 CA377667350 |
653 | E>K | No |
ClinGen gnomAD |
|
|
rs1277120883 CA377667360 |
654 | R>K | No |
ClinGen gnomAD |
|
|
CA377667365 rs1324058472 |
655 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 657 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1423542197 CA377667412 |
658 | M>I | No |
ClinGen gnomAD |
|
|
CA377667406 rs1193070141 |
658 | M>L | No |
ClinGen gnomAD |
|
|
CA211677039 rs1057121090 |
660 | S>N | No |
ClinGen Ensembl |
|
|
rs770332266 CA5615635 |
661 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1160528031 CA377667435 |
662 | N>H | No |
ClinGen gnomAD |
|
|
CA211677061 rs774778538 |
664 | D>N | No |
ClinGen Ensembl |
|
|
rs1157514556 CA377667456 |
665 | P>A | No |
ClinGen gnomAD |
|
|
CA5615638 rs188843001 |
669 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 671 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA377667519 rs1195417948 |
674 | T>A | No |
ClinGen gnomAD |
|
| TCGA novel | 677 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA377667541 rs1391729816 |
678 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA377667589 rs1467710470 |
685 | A>V | No |
ClinGen Ensembl |
|
|
rs1215869973 CA377667617 |
690 | I>F | No |
ClinGen TOPMed |
|
|
rs578099960 CA211677089 |
694 | S>G | No |
ClinGen 1000Genomes |
|
|
CA377667705 rs1179599077 |
700 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
rs112538484 CA211678005 |
702 | L>P | No |
ClinGen Ensembl |
|
|
CA5615657 rs746512654 |
706 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA211678013 rs1002217829 |
707 | R>G | No |
ClinGen TOPMed |
|
|
CA5615659 rs778279847 |
708 | C>F | No |
ClinGen ExAC gnomAD |
|
|
rs749794869 CA5615660 |
715 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1360820048 CA377667904 |
715 | K>M | No |
ClinGen gnomAD |
|
| TCGA novel | 717 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5615662 rs371792267 |
721 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1488654569 CA377668016 |
724 | T>A | No |
ClinGen TOPMed |
|
|
rs772420581 CA5615664 |
726 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs545861257 CA5615665 |
727 | T>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 732 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA377668178 rs1264370456 |
735 | R>G | No |
ClinGen gnomAD |
|
|
rs111693730 CA211678120 |
738 | A>S | No |
ClinGen Ensembl |
|
|
rs944816668 CA211678123 |
738 | A>V | No |
ClinGen Ensembl |
|
|
CA5615669 rs761674831 |
741 | K>I | No |
ClinGen ExAC gnomAD |
|
|
CA377668302 rs1236423511 |
743 | E>G | No |
ClinGen gnomAD |
|
|
rs750186205 CA5615671 |
749 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1477409931 CA377668386 |
750 | N>D | No |
ClinGen gnomAD |
|
|
rs776546865 CA5615689 |
750 | N>I | No |
ClinGen ExAC gnomAD |
|
|
rs776546865 CA377668447 |
750 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA377668455 rs1434721421 |
751 | H>D | No |
ClinGen gnomAD |
|
|
CA377668459 rs1274842469 |
751 | H>L | No |
ClinGen gnomAD |
|
|
CA377668457 rs1434721421 |
751 | H>Y | No |
ClinGen gnomAD |
|
|
CA377668497 rs1564618450 |
754 | G>R | No |
ClinGen Ensembl |
|
|
rs1355032361 CA377668544 |
758 | G>R | No |
ClinGen gnomAD |
|
|
CA377668554 rs1283265967 |
759 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
rs761990854 CA5615690 |
761 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1210086850 CA377668612 |
763 | K>M | No |
ClinGen gnomAD |
|
|
rs1210086850 CA377668610 |
763 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 765 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA377668652 rs1291550308 |
766 | L>F | No |
ClinGen gnomAD |
|
|
CA377668655 rs1170901572 |
767 | D>N | No |
ClinGen TOPMed |
|
|
rs769712136 CA5615692 |
768 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA377668672 rs1489040047 |
768 | P>S | No |
ClinGen gnomAD |
|
|
CA377668681 rs1197892098 |
769 | K>E | No |
ClinGen gnomAD |
|
|
rs1172992364 CA377668735 |
772 | M>I | No |
ClinGen TOPMed |
|
|
CA377668730 rs1422767438 |
772 | M>R | No |
ClinGen TOPMed |
|
|
CA377668753 rs1441475235 |
774 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1176660534 CA377668787 |
776 | K>N | No |
ClinGen gnomAD |
|
|
CA5615694 rs762672616 |
777 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1419150414 CA377668813 |
779 | D>H | No |
ClinGen gnomAD |
|
|
rs1208804637 CA377668999 |
790 | K>N | No |
ClinGen gnomAD |
|
|
rs921206889 CA211679364 |
794 | D>E | No |
ClinGen Ensembl |
|
|
rs781540868 CA5615709 |
800 | L>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 803 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs144467267 CA5615710 |
807 | I>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs777811792 CA5615736 |
811 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
CA377669285 rs1305061706 |
813 | S>L | No |
ClinGen gnomAD |
|
|
CA5615737 rs749409791 |
814 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA377669286 rs1334909743 |
814 | G>R | No |
ClinGen TOPMed |
|
|
CA5615738 RCV000974255 rs147978849 |
816 | I>V | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs774405443 CA5615739 |
818 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5615740 rs745593922 |
820 | M>K | No |
ClinGen ExAC gnomAD |
|
|
rs771903724 CA377669337 |
821 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377669336 rs1397683557 |
821 | G>R | No |
ClinGen gnomAD |
|
|
rs771903724 CA5615741 |
821 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377669358 rs1312512307 |
824 | K>R | No |
ClinGen gnomAD |
|
|
CA5615742 rs141792389 |
826 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5615743 COSM1209511 rs200044983 |
828 | N>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
|
CA377669393 rs1343009320 |
829 | S>Y | No |
ClinGen gnomAD |
|
|
rs554474857 CA5615745 |
830 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1191729423 CA377669409 |
831 | D>E | No |
ClinGen gnomAD |
|
|
rs150576597 CA5615746 |
831 | D>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs766779610 CA5615747 |
832 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA377669423 rs1178925023 |
834 | P>T | No |
ClinGen gnomAD |
|
|
rs960273459 CA211682040 |
839 | F>Q | No |
ClinGen Ensembl |
1 associated diseases with Q9NRZ9
[MIM: 616911]: Immunodeficiency-centromeric instability-facial anomalies syndrome 4 (ICF4)
A rare disorder characterized by a variable immunodeficiency resulting in recurrent infections, facial anomalies, and branching of chromosomes 1, 9, and 16. Other variable symptoms include growth retardation, failure to thrive, and psychomotor retardation. Laboratory studies show limited hypomethylation of DNA in a small fraction of the genome in some, but not all, patients. {ECO:0000269|PubMed:26216346}. Note=The disease may be caused by variants affecting the gene represented in this entry.
Without disease ID
- A rare disorder characterized by a variable immunodeficiency resulting in recurrent infections, facial anomalies, and branching of chromosomes 1, 9, and 16. Other variable symptoms include growth retardation, failure to thrive, and psychomotor retardation. Laboratory studies show limited hypomethylation of DNA in a small fraction of the genome in some, but not all, patients. {ECO:0000269|PubMed:26216346}. Note=The disease may be caused by variants affecting the gene represented in this entry.
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| chromosome, centromeric region | The region of a chromosome that includes the centromeric DNA and associated proteins. In monocentric chromosomes, this region corresponds to a single area of the chromosome, whereas in holocentric chromosomes, it is evenly distributed along the chromosome. |
| 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. |
| pericentric heterochromatin | Heterochromatin that is located adjacent to the CENP-A rich centromere 'central core' and characterized by methylated H3 histone at lysine 9 (H3K9me2/H3K9me3). |
5 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| ATP-dependent chromatin remodeler activity | An activity, driven by ATP hydrolysis, that modulates the contacts between histones and DNA, resulting in a change in chromosome architecture within the nucleosomal array, leading to chromatin remodeling. |
| chromatin binding | Binding to chromatin, the network of fibers of DNA, protein, and sometimes RNA, that make up the chromosomes of the eukaryotic nucleus during interphase. |
| helicase activity | Catalysis of the reaction: ATP + H2O = ADP + phosphate, to drive the unwinding of a DNA or RNA helix. |
| hydrolase activity | Catalysis of the hydrolysis of various bonds, e.g. C-O, C-N, C-C, phosphoric anhydride bonds, etc. |
11 GO annotations of biological process
| Name | Definition |
|---|---|
| apoptotic process | A programmed cell death process which begins when a cell receives an internal (e.g. DNA damage) or external signal (e.g. an extracellular death ligand), and proceeds through a series of biochemical events (signaling pathway phase) which trigger an execution phase. The execution phase is the last step of an apoptotic process, and is typically characterized by rounding-up of the cell, retraction of pseudopodes, reduction of cellular volume (pyknosis), chromatin condensation, nuclear fragmentation (karyorrhexis), plasma membrane blebbing and fragmentation of the cell into apoptotic bodies. When the execution phase is completed, the cell has died. |
| cell cycle | The progression of biochemical and morphological phases and events that occur in a cell during successive cell replication or nuclear replication events. Canonically, the cell cycle comprises the replication and segregation of genetic material followed by the division of the cell, but in endocycles or syncytial cells nuclear replication or nuclear division may not be followed by cell division. |
| cell division | The process resulting in division and partitioning of components of a cell to form more cells; may or may not be accompanied by the physical separation of a cell into distinct, individually membrane-bounded daughter cells. |
| cellular response to leukemia inhibitory factor | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a leukemia inhibitory factor stimulus. |
| DNA methylation | The covalent transfer of a methyl group to either N-6 of adenine or C-5 or N-4 of cytosine. |
| DNA methylation-dependent heterochromatin assembly | Repression of transcription by methylation of DNA, leading to the formation of heterochromatin. |
| kidney development | The process whose specific outcome is the progression of the kidney over time, from its formation to the mature structure. The kidney is an organ that filters the blood and/or excretes the end products of body metabolism in the form of urine. |
| lymphocyte proliferation | The expansion of a lymphocyte population by cell division. |
| maintenance of DNA methylation | Any process involved in maintaining the methylation state of a nucleotide sequence. |
| negative regulation of intrinsic apoptotic signaling pathway | Any process that stops, prevents or reduces the frequency, rate or extent of intrinsic apoptotic signaling pathway. |
| pericentric heterochromatin assembly | The compaction of chromatin located adjacent to the CENP-A rich centromere 'central core' and characterized by methylation of histone H3K9, into heterochromatin, resulting in the repression of transcription at pericentric DNA. |
13 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q3B7N1 | CHD1L | Chromodomain-helicase-DNA-binding protein 1-like | Bos taurus (Bovine) | SS |
| Q24368 | Iswi | Chromatin-remodeling complex ATPase chain Iswi | Drosophila melanogaster (Fruit fly) | SS |
| O60264 | SMARCA5 | SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 5 | Homo sapiens (Human) | EV |
| Q86WJ1 | CHD1L | Chromodomain-helicase-DNA-binding protein 1-like | Homo sapiens (Human) | EV |
| P28370 | SMARCA1 | Probable global transcription activator SNF2L1 | Homo sapiens (Human) | SS |
| Q9CXF7 | Chd1l | Chromodomain-helicase-DNA-binding protein 1-like | Mus musculus (Mouse) | SS |
| Q91ZW3 | Smarca5 | SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 5 | Mus musculus (Mouse) | SS |
| Q6PGB8 | Smarca1 | Probable global transcription activator SNF2L1 | Mus musculus (Mouse) | SS |
| Q60848 | Hells | Lymphocyte-specific helicase | Mus musculus (Mouse) | PR |
| Q7G8Y3 | Os01g0367900 | Probable chromatin-remodeling complex ATPase chain | Oryza sativa subsp japonica (Rice) | PR |
| P41877 | isw-1 | Chromatin-remodeling complex ATPase chain isw-1 | Caenorhabditis elegans | SS |
| Q8RWY3 | CHR11 | ISWI chromatin-remodeling complex ATPase CHR11 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9XFH4 | DDM1 | ATP-dependent DNA helicase DDM1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MPAERPAGSG | GSEAPAMVEQ | LDTAVITPAM | LEEEEQLEAA | GLERERKMLE | KARMSWDRES |
| 70 | 80 | 90 | 100 | 110 | 120 |
| TEIRYRRLQH | LLEKSNIYSK | FLLTKMEQQQ | LEEQKKKEKL | ERKKESLKVK | KGKNSIDASE |
| 130 | 140 | 150 | 160 | 170 | 180 |
| EKPVMRKKRG | REDESYNISE | VMSKEEILSV | AKKNKKENED | ENSSSTNLCV | EDLQKNKDSN |
| 190 | 200 | 210 | 220 | 230 | 240 |
| SIIKDRLSET | VRQNTKFFFD | PVRKCNGQPV | PFQQPKHFTG | GVMRWYQVEG | MEWLRMLWEN |
| 250 | 260 | 270 | 280 | 290 | 300 |
| GINGILADEM | GLGKTVQCIA | TIALMIQRGV | PGPFLVCGPL | STLPNWMAEF | KRFTPDIPTM |
| 310 | 320 | 330 | 340 | 350 | 360 |
| LYHGTQEERQ | KLVRNIYKRK | GTLQIHPVVI | TSFEIAMRDR | NALQHCYWKY | LIVDEGHRIK |
| 370 | 380 | 390 | 400 | 410 | 420 |
| NMKCRLIREL | KRFNADNKLL | LTGTPLQNNL | SELWSLLNFL | LPDVFDDLKS | FESWFDITSL |
| 430 | 440 | 450 | 460 | 470 | 480 |
| SETAEDIIAK | EREQNVLHML | HQILTPFLLR | RLKSDVALEV | PPKREVVVYA | PLSKKQEIFY |
| 490 | 500 | 510 | 520 | 530 | 540 |
| TAIVNRTIAN | MFGSSEKETI | ELSPTGRPKR | RTRKSINYSK | IDDFPNELEK | LISQIQPEVD |
| 550 | 560 | 570 | 580 | 590 | 600 |
| RERAVVEVNI | PVESEVNLKL | QNIMMLLRKC | CNHPYLIEYP | IDPVTQEFKI | DEELVTNSGK |
| 610 | 620 | 630 | 640 | 650 | 660 |
| FLILDRMLPE | LKKRGHKVLL | FSQMTSMLDI | LMDYCHLRDF | NFSRLDGSMS | YSEREKNMHS |
| 670 | 680 | 690 | 700 | 710 | 720 |
| FNTDPEVFIF | LVSTRAGGLG | INLTAADTVI | IYDSDWNPQS | DLQAQDRCHR | IGQTKPVVVY |
| 730 | 740 | 750 | 760 | 770 | 780 |
| RLVTANTIDQ | KIVERAAAKR | KLEKLIIHKN | HFKGGQSGLN | LSKNFLDPKE | LMELLKSRDY |
| 790 | 800 | 810 | 820 | 830 | |
| EREIKGSREK | VISDKDLELL | LDRSDLIDQM | NASGPIKEKM | GIFKILENSE | DSSPECLF |