Q6NXG1
PR
Gene name |
ESRP1 (RBM35A) |
Protein name |
Epithelial splicing regulatory protein 1 |
Names |
RNA-binding motif protein 35A, RNA-binding protein 35A |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:54845 |
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
450 variants for Q6NXG1
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV000656490 rs1554577339 |
222 | D>missing | Hearing loss, autosomal recessive 109 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA371725654 COSM1553378 VAR_080811 rs1554577402 COSM1553379 RCV000656491 |
259 | L>V | lung Variant assessed as Somatic; impact. Hearing loss, autosomal recessive 109 DFNB109; hypomorphic mutation affecting alternative splicing in patient-derived induced pluripotent stem cells and other cell-based assays [Cosmic, NCI-TCGA, ClinVar, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl NCI-TCGA dbSNP |
|
CA4811908 rs764844837 |
2 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs764844837 CA4811909 |
2 | T>R | No |
ClinGen ExAC gnomAD |
|
|
CA371717403 rs1356752211 |
3 | A>S | No |
ClinGen gnomAD |
|
|
CA371717407 rs1356752211 |
3 | A>T | No |
ClinGen gnomAD |
|
|
rs1254151102 CA371717415 |
4 | S>P | No |
ClinGen TOPMed |
|
|
CA371717427 rs1446544918 |
5 | P>L | No |
ClinGen gnomAD |
|
|
rs918600050 CA181443693 |
8 | L>F | No |
ClinGen TOPMed gnomAD |
|
| rs756027861 | 10 | V>missing | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1480597529 CA371717492 |
11 | L>P | No |
ClinGen TOPMed |
|
|
CA4811912 rs765910606 |
13 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA181443706 rs201296109 |
14 | I>N | No |
ClinGen 1000Genomes |
|
|
rs1586163300 CA371717539 |
16 | A>S | No |
ClinGen Ensembl |
|
|
CA4811914 rs756408920 |
18 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs1309172882 CA371717559 |
19 | T>P | No |
ClinGen gnomAD |
|
|
CA181443744 rs866125300 |
20 | G>E | No |
ClinGen Ensembl |
|
|
CA4811916 rs754335025 |
20 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1212715035 CA371717579 |
21 | A>T | No |
ClinGen TOPMed |
|
|
rs528521502 CA4811919 |
22 | K>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1262090785 CA371717630 |
26 | D>Y | No |
ClinGen TOPMed |
|
|
CA4811920 rs758676114 |
28 | K>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 28 | K>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA371717666 rs1228700624 |
29 | E>Q | No |
ClinGen TOPMed |
|
| TCGA novel | 31 | I>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4811922 rs746880350 |
33 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768334308 CA4811923 |
34 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA4811924 rs548563810 |
36 | K>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA181443792 rs866683536 |
41 | A>T | No |
ClinGen gnomAD |
|
|
rs748110228 CA371717840 |
42 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs769810235 CA4811926 |
43 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371718875 rs1277494687 |
46 | G>R | No |
ClinGen gnomAD |
|
|
CA371718887 rs1428283874 |
47 | Q>E | No |
ClinGen TOPMed |
|
|
rs770339844 CA4811946 |
48 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371718910 rs1325290242 |
48 | L>S | No |
ClinGen TOPMed |
|
|
CA371718933 rs377762593 |
49 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1285937901 CA371718939 COSM3835171 COSM3835170 |
50 | E>K | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs199788839 CA4811948 |
52 | L>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA371718981 rs1470176713 |
53 | V>L | No |
ClinGen gnomAD |
|
|
CA371718996 rs1177321038 |
54 | R>K | No |
ClinGen gnomAD |
|
|
rs1391852855 CA371719024 |
56 | D>H | No |
ClinGen TOPMed |
|
|
rs977591623 CA371719063 |
58 | L>F | No |
ClinGen gnomAD |
|
|
CA4811949 rs773900197 |
59 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777010885 CA371719082 |
60 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA181444294 rs936268580 |
61 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
CA4811951 rs762132114 |
63 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA371719175 rs1461187622 |
64 | C>G | No |
ClinGen gnomAD |
|
|
rs1461187622 CA371719174 |
64 | C>R | No |
ClinGen gnomAD |
|
|
rs1586164703 CA371719181 |
64 | C>Y | No |
ClinGen Ensembl |
|
| TCGA novel | 65 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1199706322 CA371719206 |
66 | E>Q | No |
ClinGen TOPMed |
|
|
CA4811954 rs750891512 |
67 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 70 | I>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA371719273 rs1290177793 |
70 | I>V | No |
ClinGen TOPMed |
|
|
CA4811955 rs367610505 |
72 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA181444316 rs367610505 |
72 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4811957 rs755286131 |
74 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA4811958 rs781536240 |
76 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA181444339 rs989517392 |
76 | S>P | No |
ClinGen Ensembl |
|
|
rs781536240 CA371719353 |
76 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752591294 CA4811959 |
78 | A>E | No |
ClinGen ExAC gnomAD |
|
|
CA371719371 rs1281110527 |
79 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
CA371719370 rs1281110527 |
79 | S>W | No |
ClinGen TOPMed gnomAD |
|
|
CA4811961 rs375726732 |
81 | L>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs749182741 CA4811962 |
82 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1336348212 CA371719395 |
83 | Q>L | No |
ClinGen gnomAD |
|
|
CA371719404 rs1250402526 |
84 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1194533404 CA371719399 |
84 | A>T | No |
ClinGen gnomAD |
|
|
CA181444373 rs866635366 |
86 | R>Q | No |
ClinGen Ensembl |
|
|
CA4811963 rs201936890 |
87 | Q>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs757172720 CA4811981 |
88 | F>V | No |
ClinGen ExAC gnomAD |
|
|
rs778878601 CA4811982 |
90 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371719455 rs778878601 |
90 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 91 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1563514407 CA371719503 |
97 | N>S | No |
ClinGen Ensembl |
|
|
rs1380225194 CA371719520 |
100 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1380225194 CA371719521 |
100 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1326515077 CA371719546 |
104 | F>V | No |
ClinGen gnomAD |
|
|
CA4811984 rs117073283 |
106 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA371719574 rs1158732837 |
108 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs962480329 CA181445494 |
110 | G>A | No |
ClinGen gnomAD |
|
|
CA4811987 rs768305646 |
118 | L>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 120 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA181445527 rs947526548 |
121 | E>G | No |
ClinGen TOPMed |
|
|
rs1402440040 CA371719679 |
124 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs779562256 CA4812004 |
126 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4812005 rs538991862 |
127 | V>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 127 | V>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4812007 rs780879258 |
130 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371719735 rs780879258 |
130 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1314279 COSM1314278 CA4812008 rs749676599 |
133 | F>L | urinary_tract [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA371719774 rs1393113780 |
136 | F>L | No |
ClinGen gnomAD |
|
|
rs1442230718 CA371719781 |
137 | F>I | No |
ClinGen TOPMed gnomAD |
|
|
COSM1205698 rs771325567 COSM1205699 CA4812009 |
140 | R>Q | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA371719832 rs1163419398 |
144 | K>E | No |
ClinGen TOPMed |
|
| TCGA novel | 144 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs529786180 CA181446988 |
146 | C>Y | No |
ClinGen Ensembl |
|
|
CA371719869 rs1308240887 |
147 | C>S | No |
ClinGen TOPMed gnomAD |
|
|
CA371719872 rs1308240887 |
147 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA4812012 rs572591229 |
149 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs572591229 CA371719892 |
149 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201610171 CA181446993 |
150 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA181447001 rs1056939806 |
151 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs768806933 CA4812015 |
153 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 154 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4812017 rs376259698 |
157 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA371719959 rs1242850393 |
157 | D>G | No |
ClinGen gnomAD |
|
|
rs765093984 CA4812018 |
158 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs73263258 RCV000963225 CA4812019 |
159 | A>T | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 160 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762910489 CA4812020 |
161 | M>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA181447041 rs939368108 |
162 | T>R | No |
ClinGen TOPMed gnomAD |
|
|
CA371720041 rs751121969 |
163 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs766273805 CA4812021 |
163 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1162356116 CA371720030 |
163 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 165 | L>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4812032 rs768775686 |
166 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1183079330 CA371723273 |
167 | F>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1416785926 CA371723296 |
168 | E>Q | No |
ClinGen gnomAD |
|
|
CA181458821 rs370013663 |
169 | K>N | No |
ClinGen ESP gnomAD |
|
|
CA4812033 rs776516284 |
170 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4812034 rs200152547 |
174 | S>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs769966537 CA4812035 |
175 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769966537 CA181458854 |
175 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1217321248 CA371723439 |
176 | Y>S | No |
ClinGen TOPMed |
|
|
CA371723463 rs1268435764 |
178 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs374587533 CA181458861 |
178 | A>V | No |
ClinGen ESP TOPMed |
|
|
CA371723510 rs1213880148 |
180 | Q>E | No |
ClinGen gnomAD |
|
| TCGA novel | 181 | V>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4812039 rs201719652 |
182 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4812040 rs751498133 |
183 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA371723603 rs1279409595 |
184 | M>T | No |
ClinGen gnomAD |
|
|
CA371723652 rs1211799473 |
186 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
CA371723646 rs1211799473 |
186 | N>H | No |
ClinGen TOPMed gnomAD |
|
|
rs767064100 CA4812042 |
186 | N>I | No |
ClinGen ExAC gnomAD |
|
|
rs1474810246 CA371723724 |
189 | L>S | No |
ClinGen gnomAD |
|
|
rs371339159 CA4812043 |
190 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1376669044 CA371723777 |
191 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA371723840 rs1302067900 |
194 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
CA371723835 rs1392538512 |
194 | E>Q | No |
ClinGen gnomAD |
|
|
CA371723874 rs1453193905 |
195 | P>L | No |
ClinGen gnomAD |
|
|
rs2303454 CA4812044 VAR_030073 |
196 | Y>C | No |
ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs1180796086 CA371723947 |
197 | N>K | No |
ClinGen TOPMed |
|
|
CA371723953 rs1157232502 |
198 | H>Y | No |
ClinGen gnomAD |
|
|
rs1475271183 CA371724023 |
202 | D>N | No |
ClinGen TOPMed |
|
|
rs563982073 CA4812062 |
203 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 206 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs760239537 CA4812065 |
211 | E>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA181459086 rs967744280 |
214 | T>A | No |
ClinGen Ensembl |
|
|
CA371724284 rs753536820 |
214 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA4812067 rs753536820 |
214 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1391364565 CA371724937 |
216 | S>G | No |
ClinGen gnomAD |
|
|
rs1407072102 CA371724984 |
218 | M>K | No |
ClinGen gnomAD |
|
|
rs1301171347 CA371724976 |
218 | M>V | No |
ClinGen TOPMed |
|
|
CA4812089 rs774229347 |
225 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA371725115 rs1410015749 |
225 | T>S | No |
ClinGen gnomAD |
|
|
CA371725109 rs774229347 |
225 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs201842226 CA4812091 |
226 | V>I | Variant assessed as Somatic; 0.0004641 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA4812093 rs760325870 |
229 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA4812094 rs541984731 |
229 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs776222018 CA4812095 |
233 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA371725295 rs1255635195 |
235 | Q>L | No |
ClinGen gnomAD |
|
|
rs1197824267 CA371725333 |
238 | D>G | No |
ClinGen TOPMed |
|
|
CA371725382 rs1251683790 |
241 | I>T | No |
ClinGen TOPMed |
|
|
CA371725376 rs1490346931 |
241 | I>V | No |
ClinGen TOPMed |
|
|
rs752006196 CA4812098 |
245 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1370287247 CA371725442 |
246 | K>E | No |
ClinGen gnomAD |
|
|
CA4812099 rs755285759 |
246 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA371725510 rs1430143230 |
251 | A>G | No |
ClinGen gnomAD |
|
|
CA181461147 rs1009378512 |
255 | A>T | No |
ClinGen TOPMed |
|
|
CA371725619 rs1257959738 |
256 | A>G | No |
ClinGen gnomAD |
|
|
rs753964744 CA4812127 |
257 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753964744 CA371725624 |
257 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1281175793 CA371725642 |
258 | C>S | No |
ClinGen TOPMed |
|
|
CA371725703 rs1465239350 |
263 | G>S | No |
ClinGen gnomAD |
|
|
CA371725717 rs1236801174 |
264 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA371725719 rs1190466948 |
264 | R>Q | No |
ClinGen gnomAD |
|
|
rs750612777 CA4812130 |
266 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 267 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs779735850 CA4812132 |
268 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA371725793 rs1378998144 |
270 | L>M | No |
ClinGen gnomAD |
|
|
rs1451255293 CA371725848 |
274 | V>E | No |
ClinGen gnomAD |
|
|
rs1302620730 CA371725846 |
274 | V>L | No |
ClinGen gnomAD |
|
|
CA371725899 rs1388742478 |
277 | E>D | No |
ClinGen gnomAD |
|
|
CA4812133 rs746769438 |
279 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4812134 rs768764209 |
280 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1247542907 CA371726021 |
287 | K>Q | No |
ClinGen Ensembl |
|
|
rs747729420 CA4812136 |
287 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs769194906 CA4812137 |
291 | G>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 293 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA371726085 rs1452277041 |
293 | R>W | No |
ClinGen TOPMed |
|
|
rs1268809163 CA371726110 |
295 | I>V | No |
ClinGen gnomAD |
|
|
CA371726128 rs1331345805 |
296 | E>Q | No |
ClinGen gnomAD |
|
|
rs748052442 CA4812158 |
302 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 304 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA371726347 rs1442626562 |
309 | A>S | No |
ClinGen gnomAD |
|
| rs1204240039 | 310 | G>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1169554811 CA371726879 |
311 | G>D | No |
ClinGen gnomAD |
|
|
CA371726372 rs1252050158 |
311 | G>S | No |
ClinGen gnomAD |
|
|
CA4812178 rs748804404 |
313 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA4812179 rs558995753 |
314 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs745532112 CA4812181 |
317 | A>T | No |
ClinGen ExAC |
|
|
rs1287257257 CA371726958 |
323 | E>V | No |
ClinGen gnomAD |
|
|
CA181463592 rs989889068 |
325 | Q>R | No |
ClinGen TOPMed |
|
|
CA371726982 rs1362929616 |
326 | V>L | No |
ClinGen gnomAD |
|
|
rs777010904 CA4812183 |
327 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1245813135 CA371727027 |
329 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA371727029 rs1344070630 |
329 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA371727032 rs1344070630 |
329 | R>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs773766825 CA4812186 |
330 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs766582289 CA4812188 |
331 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA371727100 rs1271755351 |
334 | P>L | No |
ClinGen TOPMed |
|
|
rs577759452 CA4812190 COSM1637885 COSM1637884 |
336 | T>M | bone [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1241650501 CA371727121 |
337 | A>T | No |
ClinGen gnomAD |
|
|
rs767820185 CA4812191 |
340 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1315956833 CA371727188 |
343 | V>M | No |
ClinGen gnomAD |
|
| TCGA novel | 346 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs866387286 CA181463656 |
348 | Q>R | No |
ClinGen Ensembl |
|
|
CA371727311 rs1156941847 |
352 | I>V | No |
ClinGen gnomAD |
|
|
CA371727334 CA371727333 rs1459941663 |
354 | G>R | No |
ClinGen gnomAD |
|
| TCGA novel | 355 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA371727383 rs1182868166 |
359 | I>V | No |
ClinGen gnomAD |
|
|
CA181463660 rs944457785 |
362 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs764001346 CA4812194 |
363 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA4812196 rs200256445 |
365 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4812197 rs200256445 |
365 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758086899 CA4812199 |
366 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779743725 CA4812200 |
367 | G>D | No |
ClinGen ExAC |
|
|
CA371727439 rs1265654140 |
367 | G>S | No |
ClinGen gnomAD |
|
|
rs540171708 CA181463717 |
370 | T>A | No |
ClinGen Ensembl |
|
|
CA371727480 rs1270546828 |
372 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
CA371727481 rs1270546828 |
372 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1198582850 CA371727490 |
373 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA4812202 rs770201085 |
373 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1156881000 CA371727501 |
374 | F>C | No |
ClinGen gnomAD |
|
|
rs1213577663 CA371727556 |
379 | C>Y | No |
ClinGen TOPMed |
|
|
CA4812205 rs771528226 |
382 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs1045574927 CA181463799 |
390 | H>N | No |
ClinGen TOPMed |
|
|
CA371727727 rs1350282813 |
390 | H>R | No |
ClinGen gnomAD |
|
|
CA181463803 rs973021813 |
391 | K>E | No |
ClinGen Ensembl |
|
|
rs1438110944 CA371727760 |
392 | D>V | No |
ClinGen gnomAD |
|
|
CA371727800 rs1286050852 |
395 | G>S | No |
ClinGen gnomAD |
|
|
CA181463805 rs907066881 |
399 | I>L | No |
ClinGen TOPMed |
|
|
rs969078109 CA181463811 |
403 | R>G | No |
ClinGen Ensembl |
|
| TCGA novel | 408 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs752066470 CA181463879 |
409 | V>I | No |
ClinGen Ensembl |
|
|
CA4812213 rs375226227 |
410 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA181416918 rs983868029 |
415 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 417 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs760981296 CA4812227 |
418 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA4812229 rs776450938 |
423 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA181416928 rs979023477 |
425 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA371721858 rs1473772312 |
426 | T>N | No |
ClinGen gnomAD |
|
|
CA371721854 rs761573658 |
426 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA4812230 rs761573658 |
426 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs765225515 CA4812231 |
427 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750364189 CA4812232 |
431 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1350093445 CA371721893 |
431 | P>L | No |
ClinGen TOPMed |
|
|
CA371721905 rs1321203403 |
432 | V>A | No |
ClinGen gnomAD |
|
|
CA371721924 rs1563532956 |
434 | P>H | No |
ClinGen Ensembl |
|
|
CA4812233 rs762817847 |
434 | P>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 437 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA181416949 rs937205941 |
439 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA371722009 rs937205941 |
439 | P>T | No |
ClinGen gnomAD |
|
|
rs750991584 CA4812235 |
440 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA181416950 rs1033228956 |
441 | T>A | No |
ClinGen TOPMed |
|
|
CA181416954 rs964147910 |
442 | N>I | No |
ClinGen TOPMed |
|
|
rs372346252 CA4812236 |
442 | N>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4812237 rs376944851 |
443 | V>G | No |
ClinGen ESP ExAC gnomAD |
|
|
CA4812239 rs757695232 |
445 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs917152949 CA181417017 |
448 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA181417019 rs367986548 |
450 | R>Q | No |
ClinGen ESP TOPMed |
|
|
CA371722223 rs1254453982 |
451 | G>D | No |
ClinGen gnomAD |
|
|
rs758784988 CA4812242 |
455 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA4812243 rs780215030 |
458 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371722396 rs1462548548 |
460 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA371722411 rs1247133334 |
461 | I>L | No |
ClinGen gnomAD |
|
| TCGA novel | 461 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs908237907 CA181417041 |
463 | D>G | No |
ClinGen TOPMed |
|
| TCGA novel | 467 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4812247 rs542614931 COSM3413174 COSM3413173 |
469 | A>T | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA371722658 rs1456065130 |
472 | I>T | No |
ClinGen gnomAD |
|
|
rs769589400 CA4812248 |
472 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1320443775 CA371722664 COSM1102638 COSM1102639 |
473 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs772941059 CA4812249 |
473 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA4812250 rs762976341 |
474 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1234250476 CA371722767 |
479 | M>I | No |
ClinGen gnomAD |
|
|
rs370136634 CA4812253 |
479 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs763778330 CA181417082 |
480 | V>A | No |
ClinGen Ensembl |
|
|
rs1169738720 CA371722773 |
480 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1427069577 CA371722813 |
483 | H>Y | No |
ClinGen TOPMed |
|
|
CA4812254 rs767270807 |
484 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
COSM1251508 CA371723306 COSM1251509 rs1227845913 |
486 | R>C | oesophagus [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs895123100 CA181419050 |
486 | R>H | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 487 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA371723392 rs1329697450 |
489 | G>E | No |
ClinGen gnomAD |
|
|
CA371723594 rs1172624137 |
494 | Q>H | No |
ClinGen TOPMed |
|
|
rs774146832 CA4812270 |
495 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA371723665 rs1478764148 |
496 | K>N | No |
ClinGen TOPMed |
|
|
CA4812271 rs369637376 |
497 | S>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs759634212 CA4812273 |
498 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 498 | A>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759634212 CA4812272 |
498 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4812275 rs763809299 |
499 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA371723719 rs1481903233 |
499 | D>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1563535046 CA371723742 |
500 | R>G | No |
ClinGen Ensembl |
|
|
rs1046848960 CA181419091 |
500 | R>T | No |
ClinGen Ensembl |
|
|
CA371723776 rs750850231 |
501 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4812276 rs750850231 |
501 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1163323314 CA371723798 |
502 | F>L | No |
ClinGen gnomAD |
|
|
rs752019473 CA4812279 |
503 | M>I | No |
ClinGen ExAC |
|
|
rs1305397363 CA371724451 |
506 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1201102369 CA371724445 |
506 | Q>R | No |
ClinGen TOPMed |
|
|
rs1368881517 CA371724471 |
508 | C>G | No |
ClinGen gnomAD |
|
|
rs781278831 CA371724493 |
509 | H>Q | No |
ClinGen ExAC TOPMed |
|
|
CA371724523 rs1445086301 |
511 | K>N | No |
ClinGen TOPMed |
|
|
CA4812283 rs752739958 |
511 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371724530 rs201335580 |
512 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4812284 rs201335580 |
512 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs775950025 | 512 | N>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA371724540 rs1415830822 |
513 | M>K | No |
ClinGen TOPMed |
|
|
rs1334472219 CA371724536 |
513 | M>L | No |
ClinGen TOPMed |
|
|
CA371724570 rs777955065 |
515 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs999647047 CA181419158 |
515 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs376097566 CA181419173 |
517 | Y>C | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs749169909 CA4812286 |
518 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA181419188 COSM1205687 rs944655288 COSM1205686 |
520 | V>F | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs770640220 CA4812287 |
522 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA4812288 rs778715068 |
528 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1245229901 CA371724724 |
528 | M>K | No |
ClinGen gnomAD |
|
|
CA181419195 rs1031174206 |
529 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
rs745818736 CA4812289 |
533 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1563535252 CA371724803 |
533 | M>T | No |
ClinGen Ensembl |
|
| TCGA novel | 534 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA371724816 rs1438925567 |
534 | G>W | No |
ClinGen TOPMed |
|
|
CA4812290 rs199560412 |
535 | G>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
COSM1205694 rs757908275 COSM1205695 CA4812291 |
539 | R>Q | Variant assessed as Somatic; 0.0006501 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA4812292 rs760241700 |
542 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760241700 CA371724939 |
542 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs80335794 CA181419202 |
543 | S>P | No |
ClinGen Ensembl |
|
|
CA371725025 rs1254115211 |
545 | P>L | No |
ClinGen TOPMed |
|
|
rs1388735719 CA371725057 |
547 | C>R | No |
ClinGen gnomAD |
|
|
CA371725052 rs1388735719 |
547 | C>S | No |
ClinGen gnomAD |
|
|
rs894004179 CA181419212 |
547 | C>Y | No |
ClinGen Ensembl |
|
|
CA371726407 rs1563537505 |
552 | L>R | No |
ClinGen Ensembl |
|
|
rs202043210 CA4812323 |
553 | S>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs202043210 CA4812322 |
553 | S>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs536659365 CA4812324 |
555 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA371726446 rs1310703881 |
556 | S>A | No |
ClinGen TOPMed |
|
|
rs1278004025 CA371726455 |
557 | Y>C | No |
ClinGen TOPMed |
|
|
CA4812326 rs556237996 |
559 | F>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA371726470 rs1304361395 |
559 | F>L | No |
ClinGen gnomAD |
|
|
CA4812327 rs377721126 |
560 | P>L | No |
ClinGen ESP ExAC TOPMed |
|
|
rs1286929872 CA371726481 |
561 | A>T | No |
ClinGen TOPMed |
|
|
CA4812328 rs746965310 |
567 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA4812329 rs371112232 |
568 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1586226152 CA371726533 |
568 | T>I | No |
ClinGen Ensembl |
|
| TCGA novel | 570 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs780604865 CA4812330 |
570 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4812332 rs769387220 |
571 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA4812333 rs772910256 |
572 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1445347886 CA371726626 |
574 | Q>H | No |
ClinGen TOPMed |
|
|
rs748869347 CA4812334 |
575 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA371726645 rs1434091556 |
577 | V>M | No |
ClinGen gnomAD |
|
|
CA181422595 rs192085450 |
582 | R>P | No |
ClinGen 1000Genomes ESP gnomAD |
|
|
CA181422593 COSM1205696 rs192085450 COSM1205697 |
582 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP gnomAD |
|
CA4812337 rs761205705 |
585 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371726733 rs35081221 |
586 | P>L | No |
ClinGen TOPMed |
|
|
CA181422611 rs35081221 |
586 | P>R | No |
ClinGen TOPMed |
|
|
CA4812338 rs764634654 |
587 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs776626542 CA4812339 |
588 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA371726744 COSM1102646 COSM1102647 rs1475520913 |
589 | A>T | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA4812340 rs376569123 |
589 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 593 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1221353507 CA371726779 |
594 | G>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA371726783 rs1247508707 |
595 | T>A | No |
ClinGen gnomAD |
|
|
CA4812342 rs750679297 |
598 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA371726810 rs1482393473 |
599 | M>V | No |
ClinGen TOPMed |
|
|
CA371726823 CA4812346 rs12677519 |
600 | N>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4812344 rs758636701 |
600 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs754920043 CA4812347 |
602 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs781173693 CA4812348 |
603 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747676832 CA4812349 |
603 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371726845 rs1266342291 |
604 | Y>C | No |
ClinGen TOPMed |
|
|
rs1228296571 CA371726854 |
605 | Y>F | No |
ClinGen TOPMed |
|
|
rs1278658193 CA371726862 |
606 | P>L | No |
ClinGen gnomAD |
|
|
rs374416650 CA4812366 |
607 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4812367 rs759368856 |
608 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs759368856 CA4812368 |
608 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs759368856 CA371729126 |
608 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA371729153 rs1490262738 |
610 | G>V | No |
ClinGen gnomAD |
|
|
rs1385406214 CA371729162 |
611 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1445659950 CA371729167 |
612 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1445659950 CA371729164 |
612 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1274183502 CA371729179 |
613 | N>S | No |
ClinGen gnomAD |
|
|
rs1340388990 CA371729199 |
614 | S>T | No |
ClinGen gnomAD |
|
|
CA4812370 rs755952613 |
616 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA371729229 rs1361454151 |
617 | Y>C | No |
ClinGen TOPMed |
|
|
CA181433522 rs1040767177 |
618 | F>L | No |
ClinGen TOPMed |
|
|
CA371729244 rs1369554189 |
618 | F>L | No |
ClinGen gnomAD |
|
|
rs1192850805 CA371729240 |
618 | F>S | No |
ClinGen gnomAD |
|
|
CA4812371 rs371747578 |
620 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs753318934 CA4812372 |
620 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1586253727 CA371729289 |
623 | N>H | No |
ClinGen Ensembl |
|
|
CA4812375 rs747400496 |
623 | N>S | No |
ClinGen ExAC |
|
|
CA371729316 rs1243728820 |
625 | S>N | No |
ClinGen gnomAD |
|
|
rs781353887 CA4812378 |
626 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781353887 CA4812377 |
626 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371729331 rs1249380191 |
626 | G>V | No |
ClinGen TOPMed |
|
|
CA371729340 rs1586253785 |
627 | V>A | No |
ClinGen Ensembl |
|
|
CA4812379 rs371924036 |
629 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1462193932 CA371729375 |
631 | P>A | No |
ClinGen gnomAD |
|
| TCGA novel | 632 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4812380 rs773473480 |
633 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371729400 rs773473480 |
633 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 633 | T>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA371729397 rs1169097894 |
633 | T>S | No |
ClinGen gnomAD |
|
|
CA371729458 rs1337926436 |
639 | G>S | No |
ClinGen gnomAD |
|
|
CA4812384 rs759614908 |
641 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4812386 rs767362823 |
643 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs752397572 CA4812387 |
646 | V>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 649 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1269710599 CA371729565 |
649 | I>T | No |
ClinGen TOPMed |
|
|
CA181433629 rs898237716 |
650 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA181433635 rs777814562 |
651 | N>S | No |
ClinGen gnomAD |
|
|
rs1480401160 CA371729594 |
652 | F>L | No |
ClinGen Ensembl |
|
| TCGA novel | 654 | Q>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4812388 rs369492665 |
654 | Q>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 655 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1396713311 CA371729642 |
656 | Y>H | No |
ClinGen TOPMed |
|
|
CA371730303 rs1199424641 |
660 | T>A | No |
ClinGen gnomAD |
|
|
rs746129950 CA4812404 |
660 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA4812406 COSM1102648 rs775408778 COSM1102649 |
661 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1364922271 CA371730319 |
662 | D>V | No |
ClinGen gnomAD |
|
|
CA371730329 rs1413579435 |
664 | L>F | No |
ClinGen TOPMed |
|
|
rs1455670233 CA371730338 |
665 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1161891834 CA371730352 |
667 | T>K | No |
ClinGen gnomAD |
|
|
rs760377197 CA4812407 |
668 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs760377197 CA371730356 |
668 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
CA371730368 rs1304995571 |
669 | D>E | No |
ClinGen gnomAD |
|
|
rs1348680205 CA371730386 |
672 | R>K | No |
ClinGen gnomAD |
|
|
CA371730390 rs1417643944 |
672 | R>S | No |
ClinGen TOPMed |
|
|
CA371730398 rs1363070682 |
674 | L>V | No |
ClinGen TOPMed |
|
|
rs1306194590 CA371730405 |
675 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA371730404 rs1165211651 |
675 | P>S | No |
ClinGen TOPMed |
|
|
CA371730424 rs1240847954 |
678 | W>R | No |
ClinGen gnomAD |
|
|
CA371730433 rs1263460447 |
679 | V>I | No |
ClinGen gnomAD |
|
|
CA371730442 rs1204983365 |
680 | C>Y | No |
ClinGen gnomAD |
|
|
rs1358236404 CA371730451 |
681 | I>T | No |
ClinGen gnomAD |
|
|
rs776556357 CA4812409 |
682 | I>E | No |
ClinGen ExAC gnomAD |
1 associated diseases with Q6NXG1
[MIM: 618013]: Deafness, autosomal recessive, 109 (DFNB109)
A form of non-syndromic, sensorineural deafness characterized by bilateral, congenital, severe to profound hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNB109 affected individuals additionally exhibit vestibular dysplasia, although they do not manifest problems with balance or movement. {ECO:0000269|PubMed:29107558}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A form of non-syndromic, sensorineural deafness characterized by bilateral, congenital, severe to profound hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNB109 affected individuals additionally exhibit vestibular dysplasia, although they do not manifest problems with balance or movement. {ECO:0000269|PubMed:29107558}. Note=The disease is caused by variants affecting the gene represented in this entry.
4 regional properties for Q6NXG1
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | RNA recognition motif domain | 225 - 302 | IPR000504-1 |
| domain | RNA recognition motif domain | 326 - 406 | IPR000504-2 |
| domain | RNA recognition motif domain | 446 - 521 | IPR000504-3 |
| domain | ESRP1, RNA recognition motif 1 | 216 - 308 | IPR034427 |
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| nuclear body | Extra-nucleolar nuclear domains usually visualized by confocal microscopy and fluorescent antibodies to specific proteins. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
| ribonucleoprotein complex | A macromolecular complex that contains both RNA and protein molecules. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| mRNA binding | Binding to messenger RNA (mRNA), an intermediate molecule between DNA and protein. mRNA includes UTR and coding sequences, but does not contain introns. |
| RNA binding | Binding to an RNA molecule or a portion thereof. |
4 GO annotations of biological process
| Name | Definition |
|---|---|
| mRNA processing | Any process involved in the conversion of a primary mRNA transcript into one or more mature mRNA(s) prior to translation into polypeptide. |
| regulation of inner ear auditory receptor cell fate specification | Any process that mediates the specification of a cell into an auditory hair cell. |
| regulation of RNA splicing | Any process that modulates the frequency, rate or extent of RNA splicing, the process of removing sections of the primary RNA transcript to remove sequences not present in the mature form of the RNA and joining the remaining sections to form the mature form of the RNA. |
| RNA splicing | The process of removing sections of the primary RNA transcript to remove sequences not present in the mature form of the RNA and joining the remaining sections to form the mature form of the RNA. |
3 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q8IXT5 | RBM12B | RNA-binding protein 12B | Homo sapiens (Human) | PR |
| B2RYD2 | Esrp1 | Epithelial splicing regulatory protein 1 | Rattus norvegicus (Rat) | PR |
| Q6DEZ7 | esrp1 | Epithelial splicing regulatory protein 1 | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MTASPDYLVV | LFGITAGATG | AKLGSDEKEL | ILLFWKVVDL | ANKKVGQLHE | VLVRPDQLEL |
| 70 | 80 | 90 | 100 | 110 | 120 |
| TEDCKEETKI | DVESLSSASQ | LDQALRQFNQ | SVSNELNIGV | GTSFCLCTDG | QLHVRQILHP |
| 130 | 140 | 150 | 160 | 170 | 180 |
| EASKKNVLLP | ECFYSFFDLR | KEFKKCCPGS | PDIDKLDVAT | MTEYLNFEKS | SSVSRYGASQ |
| 190 | 200 | 210 | 220 | 230 | 240 |
| VEDMGNIILA | MISEPYNHRF | SDPERVNYKF | ESGTCSKMEL | IDDNTVVRAR | GLPWQSSDQD |
| 250 | 260 | 270 | 280 | 290 | 300 |
| IARFFKGLNI | AKGGAALCLN | AQGRRNGEAL | VRFVSEEHRD | LALQRHKHHM | GTRYIEVYKA |
| 310 | 320 | 330 | 340 | 350 | 360 |
| TGEDFLKIAG | GTSNEVAQFL | SKENQVIVRM | RGLPFTATAE | EVVAFFGQHC | PITGGKEGIL |
| 370 | 380 | 390 | 400 | 410 | 420 |
| FVTYPDGRPT | GDAFVLFACE | EYAQNALRKH | KDLLGKRYIE | LFRSTAAEVQ | QVLNRFSSAP |
| 430 | 440 | 450 | 460 | 470 | 480 |
| LIPLPTPPII | PVLPQQFVPP | TNVRDCIRLR | GLPYAATIED | ILDFLGEFAT | DIRTHGVHMV |
| 490 | 500 | 510 | 520 | 530 | 540 |
| LNHQGRPSGD | AFIQMKSADR | AFMAAQKCHK | KNMKDRYVEV | FQCSAEEMNF | VLMGGTLNRN |
| 550 | 560 | 570 | 580 | 590 | 600 |
| GLSPPPCKLP | CLSPPSYTFP | APAAVIPTEA | AIYQPSVILN | PRALQPSTAY | YPAGTQLFMN |
| 610 | 620 | 630 | 640 | 650 | 660 |
| YTAYYPSPPG | SPNSLGYFPT | AANLSGVPPQ | PGTVVRMQGL | AYNTGVKEIL | NFFQGYQYAT |
| 670 | 680 | ||||
| EDGLIHTNDQ | ARTLPKEWVC | I |