O00482
PR
Gene name |
NR5A2 (B1F, CPF, FTF) |
Protein name |
Nuclear receptor subfamily 5 group A member 2 |
Names |
Alpha-1-fetoprotein transcription factor, B1-binding factor, hB1F, CYP7A promoter-binding factor, Hepatocytic transcription factor, Liver receptor homolog 1, LRH-1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:2494 |
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
27 structures for O00482
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 1YOK | X-ray | 250 A | A | 300-541 | PDB |
| 1YUC | X-ray | 190 A | A/B | 290-541 | PDB |
| 1ZDU | X-ray | 250 A | A | 297-541 | PDB |
| 2A66 | X-ray | 220 A | A | 79-187 | PDB |
| 3PLZ | X-ray | 175 A | A/B | 300-541 | PDB |
| 3TX7 | X-ray | 276 A | B | 191-541 | PDB |
| 4DOR | X-ray | 190 A | A/B | 290-541 | PDB |
| 4DOS | X-ray | 200 A | A | 299-538 | PDB |
| 4IS8 | X-ray | 278 A | A/B | 300-538 | PDB |
| 4ONI | X-ray | 180 A | A/B | 291-541 | PDB |
| 4PLD | X-ray | 175 A | A | 301-541 | PDB |
| 4PLE | X-ray | 175 A | A/C/E/G | 301-541 | PDB |
| 4RWV | X-ray | 186 A | A | 294-541 | PDB |
| 5L0M | X-ray | 220 A | A | 79-187 | PDB |
| 5L11 | X-ray | 185 A | A | 299-541 | PDB |
| 5SYZ | X-ray | 193 A | A | 297-538 | PDB |
| 5UNJ | X-ray | 196 A | A | 299-541 | PDB |
| 6OQX | X-ray | 200 A | A | 299-541 | PDB |
| 6OQY | X-ray | 223 A | A | 299-541 | PDB |
| 6OR1 | X-ray | 217 A | A | 299-541 | PDB |
| 6VC2 | X-ray | 170 A | A | 299-541 | PDB |
| 6VIF | X-ray | 226 A | A | 299-541 | PDB |
| 7JYD | X-ray | 230 A | A | 299-541 | PDB |
| 7JYE | X-ray | 255 A | A | 299-541 | PDB |
| 7TT8 | X-ray | 280 A | A | 299-541 | PDB |
| 8F8M | X-ray | 260 A | A | 299-541 | PDB |
| AF-O00482-F1 | Predicted | AlphaFoldDB |
394 variants for O00482
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV002560184 rs749896579 CA1315914 RCV001270190 |
227 | H>Q | Premature ovarian failure Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA072907 rs139624279 RCV000207435 |
295 | T>M | Anophthalmia-microphthalmia syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA1315979 RCV002548337 rs61755054 RCV000969145 |
333 | R>P | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000190193 rs774872040 CA204188 |
351 | Q>L | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
| TCGA novel | 3 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA35905623 rs894436987 |
9 | D>H | No |
ClinGen TOPMed |
|
|
rs61755053 CA1315664 |
10 | L>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs958288378 CA35905635 |
12 | E>K | No |
ClinGen TOPMed |
|
|
rs1024315283 CA35905652 |
13 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1188340185 CA344035145 |
13 | S>Y | No |
ClinGen TOPMed |
|
|
rs377057930 CA1315666 |
17 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs548070488 CA35905653 |
19 | T>I | No |
ClinGen 1000Genomes |
|
|
CA1315667 rs142187332 |
20 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs142187332 CA1315668 |
20 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs765156524 CA1315670 |
21 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs759506185 CA1315669 |
21 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1558097102 CA344037949 |
23 | A>T | No |
ClinGen Ensembl |
|
|
CA1315758 rs775114127 |
24 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1223002573 CA344037997 |
27 | D>H | No |
ClinGen gnomAD |
|
|
rs537463980 CA1315761 |
28 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 28 | R>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1315762 rs377663705 |
28 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1315763 rs767674439 |
29 | H>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA344038046 rs1398185759 |
29 | H>Q | No |
ClinGen TOPMed |
|
|
rs1314866329 CA344038044 |
29 | H>R | No |
ClinGen TOPMed |
|
|
CA344038041 rs767674439 |
29 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370524609 CA1315764 |
30 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1360458519 CA344038049 |
30 | G>R | No |
ClinGen TOPMed |
|
|
rs756380591 CA344038069 |
31 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs756380591 CA1315766 |
31 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
CA1315767 rs566869226 |
34 | P>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1459751058 CA344038145 |
35 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1459751058 CA344038138 |
35 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA344038182 rs1449831961 |
36 | R>H | No |
ClinGen gnomAD |
|
|
rs758202551 CA1315769 |
37 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs777779964 CA1315770 |
38 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA344038201 rs1377301513 |
38 | R>S | No |
ClinGen gnomAD |
|
|
CA344038236 rs1228952924 |
40 | V>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1201025612 CA344038247 |
41 | M>I | No |
ClinGen gnomAD |
|
|
CA1315775 rs776607104 |
41 | M>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770878444 CA1315773 |
41 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776607104 CA1315774 |
41 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769544083 CA1315776 |
43 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs866137851 CA35915139 |
43 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1287446826 CA344038275 |
44 | K>R | No |
ClinGen TOPMed |
|
|
rs1055327509 CA35915174 |
46 | E>G | No |
ClinGen Ensembl |
|
| TCGA novel | 46 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1315779 rs764447525 |
48 | E>G | No |
ClinGen ExAC |
|
| TCGA novel | 53 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA35915216 rs867693756 |
53 | A>T | No |
ClinGen Ensembl |
|
|
COSM1748055 rs117334803 CA1315783 |
54 | R>* | urinary_tract [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs117334803 CA1315784 |
54 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1315785 rs766628853 |
54 | R>P | No |
ClinGen ExAC |
|
|
CA344038392 rs1416474255 |
55 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
rs949275116 CA35915244 |
56 | H>L | No |
ClinGen gnomAD |
|
|
CA344038405 CA35915269 rs753803795 |
56 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1315786 rs949275116 |
56 | H>R | No |
ClinGen gnomAD |
|
|
CA344038400 rs1474198182 |
56 | H>Y | No |
ClinGen gnomAD |
|
|
rs913919968 CA35915290 |
58 | E>G | No |
ClinGen gnomAD |
|
| rs1406247186 | 58 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1315789 rs755108930 |
58 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs913919968 CA344038425 |
58 | E>V | No |
ClinGen gnomAD |
|
|
CA344038433 rs746910295 |
59 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746910295 CA344038432 |
59 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1315791 rs746910295 |
59 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA344038435 rs1353586634 |
59 | Q>L | No |
ClinGen gnomAD |
|
|
CA35915350 rs902496465 |
60 | G>D | No |
ClinGen Ensembl |
|
|
CA35915335 rs375366164 |
60 | G>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs999503010 CA35915355 |
62 | M>I | No |
ClinGen Ensembl |
|
|
CA35915365 rs1032355029 |
63 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA344038488 rs1032355029 |
63 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA344038485 rs1279354603 |
63 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA344038491 rs781121043 |
64 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1315793 rs781121043 |
64 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1315795 rs769258665 |
66 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs745723899 CA1315794 |
66 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA344038536 rs1484388741 |
67 | Q>E | No |
ClinGen gnomAD |
|
|
rs1220564393 CA344038548 |
68 | V>M | No |
ClinGen TOPMed |
|
|
rs765621229 CA1315825 |
70 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA344039646 rs1571705509 |
73 | M>T | No |
ClinGen Ensembl |
|
|
rs752758558 CA1315826 |
73 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1250865105 CA344039684 |
75 | N>S | No |
ClinGen gnomAD |
|
|
rs1250865105 CA344039683 |
75 | N>T | No |
ClinGen gnomAD |
|
|
CA1315828 rs767509468 |
77 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750415576 CA1315829 |
78 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs566192787 CA1315831 |
79 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA344039760 rs1165570721 |
79 | D>V | No |
ClinGen gnomAD |
|
| TCGA novel | 82 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 84 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 84 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM424966 CA344039847 rs1324332775 |
85 | L>F | breast [Cosmic] | No |
ClinGen cosmic curated gnomAD |
| TCGA novel | 86 | C>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA344039884 rs1448593920 |
88 | V>A | No |
ClinGen gnomAD |
|
|
rs149536740 CA1315835 |
92 | K>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA344039960 rs1457202210 |
94 | S>T | No |
ClinGen TOPMed |
|
| TCGA novel | 119 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 120 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs547053833 CA35920714 |
123 | I>T | No |
ClinGen 1000Genomes TOPMed |
|
|
rs1032210572 CA35920713 |
123 | I>V | No |
ClinGen TOPMed |
|
| TCGA novel | 126 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs868318116 CA35920715 |
126 | Q>K | No |
ClinGen Ensembl |
|
|
rs1481006455 CA344040978 |
128 | C>R | No |
ClinGen TOPMed |
|
| TCGA novel | 132 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA35920721 rs995472299 |
133 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA1315857 rs777249920 |
133 | T>I | No |
ClinGen ExAC gnomAD |
|
|
COSM1639673 CA1315860 rs781564092 |
137 | R>H | stomach [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs746191281 COSM901899 CA1315861 |
142 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
| TCGA novel | 145 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 147 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770310095 CA1315862 |
148 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs776035131 CA1315863 |
148 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs568473881 CA35920766 |
150 | G>E | No |
ClinGen 1000Genomes |
|
|
CA1315865 rs769068786 |
153 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759459779 CA1315889 |
156 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs373723203 CA1315891 |
159 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs573680652 CA35923054 |
160 | R>G | No |
ClinGen Ensembl |
|
|
CA1315892 rs762746404 |
160 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA35923072 rs202168201 |
161 | M>T | No |
ClinGen gnomAD |
|
|
CA1315893 rs763749694 |
162 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs751202522 CA1315894 |
162 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA35923086 rs749906411 |
163 | G>R | No |
ClinGen Ensembl |
|
|
CA35923087 rs960375609 |
164 | G>R | No |
ClinGen Ensembl |
|
| TCGA novel | 174 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA35923110 rs987775691 |
174 | R>T | No |
ClinGen Ensembl |
|
|
CA344041904 COSM1158666 rs750009121 |
175 | D>E | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA344041953 rs1558103553 |
178 | L>P | No |
ClinGen Ensembl |
|
|
rs1439034158 CA344041951 |
178 | L>V | No |
ClinGen gnomAD |
|
|
COSM901900 rs1195448284 CA344042018 |
181 | Q>H | endometrium [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA35923111 rs1034925236 |
184 | A>P | No |
ClinGen Ensembl |
|
|
rs897472603 CA35923112 |
185 | L>F | No |
ClinGen TOPMed |
|
|
CA344042094 rs897472603 |
185 | L>V | No |
ClinGen TOPMed |
|
|
rs756624487 CA1315898 |
186 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA35923128 rs960839176 |
186 | I>T | No |
ClinGen Ensembl |
|
|
rs987961515 CA35923131 |
187 | R>G | No |
ClinGen Ensembl |
|
|
rs376606471 COSM1582975 CA1315899 |
187 | R>Q | meninges [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
| TCGA novel | 188 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1315901 rs556789514 |
192 | K>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA344042224 rs1348712017 |
195 | A>T | No |
ClinGen TOPMed |
|
|
rs1571712291 CA344042252 |
196 | M>T | No |
ClinGen Ensembl |
|
|
CA344042250 rs1273007518 |
196 | M>V | No |
ClinGen gnomAD |
|
|
rs748299766 CA1315903 |
198 | Q>R | No |
ClinGen ExAC |
|
| TCGA novel | 202 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1315904 rs772398661 |
203 | M>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 205 | S>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM901901 CA344042509 rs1238658351 |
208 | T>I | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs1280566946 CA344042542 |
210 | S>F | No |
ClinGen TOPMed |
|
|
CA344042572 rs1571712359 |
212 | A>G | No |
ClinGen Ensembl |
|
|
rs1444832096 CA344042587 |
213 | I>N | No |
ClinGen TOPMed |
|
|
rs769658948 CA1315907 |
214 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA344042611 rs1571712387 |
215 | N>T | No |
ClinGen Ensembl |
|
|
rs1476159045 CA344042650 |
217 | H>P | No |
ClinGen TOPMed gnomAD |
|
|
rs775424771 CA1315908 |
218 | S>F | No |
ClinGen ExAC |
|
|
rs761356027 CA1315912 |
224 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs545151830 CA1315913 |
226 | N>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1407176293 CA344042796 |
228 | A>T | No |
ClinGen TOPMed |
|
|
rs1156491797 CA344042842 |
231 | P>T | No |
ClinGen gnomAD |
|
|
rs1381405292 CA344042858 |
232 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1159004399 CA344042868 |
233 | T>A | No |
ClinGen TOPMed |
|
|
rs140704739 CA1315917 |
236 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs766953218 CA1315916 |
236 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs370765271 CA35923211 |
236 | D>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA1315919 rs779135801 |
237 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1558103859 CA344043047 |
239 | P>L | No |
ClinGen Ensembl |
|
|
CA1315921 rs753174754 |
239 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA1315920 rs753174754 |
239 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA1315923 rs747037821 |
242 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1230726634 CA344043158 |
243 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs201522628 CA344043166 |
244 | P>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs749157454 CA1315926 |
244 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749157454 CA344043176 |
244 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1315925 rs201522628 |
244 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1315927 rs200947591 |
246 | S>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1315929 rs372532536 |
248 | T>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1315928 rs372532536 |
248 | T>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA344043270 rs1409662491 |
249 | M>I | No |
ClinGen gnomAD |
|
|
rs1419909946 CA344043262 |
249 | M>T | No |
ClinGen gnomAD |
|
|
CA344043289 rs1377419680 |
250 | P>L | No |
ClinGen gnomAD |
|
|
CA344043282 rs1168568776 |
250 | P>S | No |
ClinGen gnomAD |
|
|
rs370987975 CA1315933 CA1315931 |
252 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1315934 rs776342501 |
253 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs776342501 CA1315935 |
253 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA1315937 rs752945055 |
254 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1270429680 CA344043438 |
256 | Q>R | No |
ClinGen gnomAD |
|
|
rs757522943 CA1315941 |
257 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757522943 CA344043459 |
257 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781233871 CA1315942 |
261 | Y>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781233871 CA344043535 |
261 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 263 | H>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA35923432 rs887858624 |
263 | H>R | No |
ClinGen Ensembl |
|
|
rs778933557 CA1315945 |
265 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA344043644 rs1242534374 |
266 | S>C | No |
ClinGen gnomAD |
|
|
rs747857889 CA1315947 |
267 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201214610 CA35923439 |
267 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA344043689 rs201214610 |
267 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1315948 rs201214610 |
267 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747857889 CA1315946 |
267 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770777886 CA1315950 |
268 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA344043702 rs746650608 |
268 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs746650608 CA1315949 |
268 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA1315951 rs776217485 |
269 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1242730786 CA344043973 |
276 | P>H | No |
ClinGen TOPMed |
|
|
CA1315953 rs765609869 |
278 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA35923497 rs201990828 |
282 | E>K | No |
ClinGen TOPMed |
|
|
CA1315955 rs763405171 |
283 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA35923513 rs868237127 |
284 | I>M | No |
ClinGen Ensembl |
|
|
rs549704205 CA1315957 |
285 | M>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1315956 rs142863458 |
285 | M>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1315958 rs757464845 |
286 | G>V | No |
ClinGen ExAC |
|
|
CA344044349 rs1234504519 |
288 | S>L | No |
ClinGen gnomAD |
|
|
rs750422848 CA344044367 |
289 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs750422848 CA1315960 |
289 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
CA344044421 rs1206892881 CA344044418 |
290 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1342217183 CA344044408 |
290 | M>T | No |
ClinGen gnomAD |
|
|
rs756250928 CA1315961 |
294 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA344044643 rs1454889391 |
297 | S>P | No |
ClinGen gnomAD |
|
|
rs1193219004 CA344044737 |
301 | I>N | No |
ClinGen gnomAD |
|
| TCGA novel | 302 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1315963 rs532362884 |
303 | H>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA344044803 rs1432885604 |
304 | L>P | No |
ClinGen TOPMed |
|
|
CA344044816 rs1159161761 |
305 | I>V | No |
ClinGen gnomAD |
|
|
rs746807933 CA1315965 |
309 | L>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 311 | C>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770653281 CA1315966 |
311 | C>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 313 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1315967 rs780916114 |
314 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA344046014 rs1484680700 |
315 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA1315968 rs745326903 |
316 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA344046148 rs769312861 |
319 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA1315969 rs769312861 |
319 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs763436139 CA1315971 |
321 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA35923622 rs769216513 |
321 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769216513 CA1315972 |
321 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762189252 CA1315974 |
323 | M>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 324 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs767688677 CA1315975 |
325 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA344046332 rs1206691380 |
327 | Q>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA1315976 rs200093294 |
328 | Q>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA344046400 rs1213376252 |
329 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA344046455 rs1251361210 |
331 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs61755054 CA1315980 |
333 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1315981 rs777870204 |
336 | H>D | No |
ClinGen ExAC gnomAD |
|
|
CA344046551 rs777870204 |
336 | H>N | No |
ClinGen ExAC gnomAD |
|
|
rs751348254 CA1315983 CA35923688 |
336 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA344046573 rs142287973 |
337 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368332488 CA1315984 |
337 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 338 | K>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA35923723 rs201550930 |
342 | F>S | No |
ClinGen gnomAD |
|
|
CA1315987 rs756542971 COSM361433 |
343 | G>E | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1215831071 CA344046653 |
345 | M>T | No |
ClinGen TOPMed |
|
|
CA1315988 rs748799801 |
345 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1334640443 CA344046663 |
346 | C>S | No |
ClinGen gnomAD |
|
| TCGA novel | 347 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA344046696 rs1177311683 |
348 | M>I | No |
ClinGen gnomAD |
|
| TCGA novel | 348 | M>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1295049627 CA344046693 |
348 | M>T | No |
ClinGen gnomAD |
|
|
CA344046767 rs1232461495 |
355 | S>T | No |
ClinGen gnomAD |
|
|
rs762348879 CA1315990 |
356 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs1196579669 CA344046783 |
356 | I>T | No |
ClinGen gnomAD |
|
|
rs913607008 CA35923766 |
358 | E>G | No |
ClinGen Ensembl |
|
|
CA344046798 rs1482110974 |
358 | E>K | No |
ClinGen gnomAD |
|
|
rs1482110974 CA344046800 |
358 | E>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 361 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA344046875 rs1355326021 |
364 | I>V | No |
ClinGen TOPMed |
|
|
CA344046911 rs1172714024 |
367 | R>G | No |
ClinGen TOPMed |
|
|
CA344052118 rs1321023521 |
372 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1403852059 CA344052103 |
372 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1571496389 CA344052130 |
373 | D>G | No |
ClinGen Ensembl |
|
|
CA344052206 rs1409298590 |
378 | L>I | No |
ClinGen gnomAD |
|
|
rs936220213 CA35923094 |
380 | N>K | No |
ClinGen Ensembl |
|
|
rs367908013 CA1316041 |
383 | S>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA344052278 rs765360957 |
387 | I>M | No |
ClinGen gnomAD |
|
|
CA1316042 rs752064904 |
388 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1428618356 CA344052290 |
389 | D>E | No |
ClinGen gnomAD |
|
|
COSM3418588 CA1316044 rs775644685 |
389 | D>N | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA344052284 rs775644685 |
389 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1226327686 CA344052295 |
390 | H>L | No |
ClinGen gnomAD |
|
|
CA1316045 rs781698898 |
391 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA1316046 rs201357988 |
393 | R>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1316047 rs772993318 |
393 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA344052316 rs1571496557 |
394 | Q>K | No |
ClinGen Ensembl |
|
|
rs1474291454 CA344052324 |
395 | V>M | No |
ClinGen TOPMed |
|
|
CA344052334 rs1188529154 |
396 | V>A | No |
ClinGen gnomAD |
|
|
rs1558145637 CA344052330 |
396 | V>I | No |
ClinGen Ensembl |
|
|
CA344052336 rs1571496622 |
397 | H>N | No |
ClinGen Ensembl |
|
|
rs759125008 CA1316052 |
398 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA1316055 rs757881323 |
401 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs867291909 CA35923205 |
402 | S>F | No |
ClinGen Ensembl |
|
|
rs1377333745 CA344052452 |
405 | L>P | No |
ClinGen gnomAD |
|
|
rs1357848733 CA344052487 |
408 | G>E | No |
ClinGen gnomAD |
|
|
CA344052504 rs1227152290 |
409 | Q>H | No |
ClinGen gnomAD |
|
|
rs1271070216 CA344052491 |
409 | Q>K | No |
ClinGen gnomAD |
|
|
CA1316056 rs777379743 |
409 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA1316058 rs372177139 |
410 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs751984795 CA1316057 |
410 | Q>K | Variant assessed as Somatic; 5.141e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1403096471 CA344054625 |
412 | D>E | No |
ClinGen TOPMed |
|
|
CA1316089 rs781767605 |
412 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA1316088 rs781767605 |
412 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA344054668 rs1198289563 |
415 | I>V | No |
ClinGen gnomAD |
|
|
CA35930786 rs748764541 |
416 | I>L | No |
ClinGen Ensembl |
|
| TCGA novel | 417 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1375953011 CA344054706 |
417 | A>T | No |
ClinGen gnomAD |
|
|
CA1316091 rs780604273 |
420 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA344054814 rs1455985851 |
423 | T>I | No |
ClinGen gnomAD |
|
|
CA344054809 rs1455985851 |
423 | T>N | No |
ClinGen gnomAD |
|
|
rs1167466731 CA344054833 |
425 | N>H | No |
ClinGen TOPMed gnomAD |
|
|
CA1316094 rs778793999 |
428 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA344054911 rs1386938053 |
428 | M>T | No |
ClinGen gnomAD |
|
|
rs369542811 CA344054974 |
431 | A>G | No |
ClinGen ESP TOPMed |
|
|
rs369542811 CA35930836 |
431 | A>V | No |
ClinGen ESP TOPMed |
|
|
CA35930846 rs539027854 |
433 | E>A | No |
ClinGen Ensembl |
|
|
rs770809230 CA1316096 |
434 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA1316098 rs146778765 |
435 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1316097 rs776585291 |
435 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA1316099 rs769550871 |
436 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA35930856 rs951188707 |
436 | A>V | No |
ClinGen TOPMed |
|
|
CA344055073 rs1209444551 |
437 | K>E | No |
ClinGen gnomAD |
|
|
CA344055078 rs1265408960 |
437 | K>R | No |
ClinGen gnomAD |
|
|
CA1316101 rs762506535 COSM901909 |
439 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA344055095 rs762506535 |
439 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA344055096 rs1182541887 COSM1337668 |
439 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1251735242 CA344055107 |
441 | L>F | No |
ClinGen gnomAD |
|
| TCGA novel | 442 | Q>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 443 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA344055124 rs1359620108 |
443 | F>S | No |
ClinGen gnomAD |
|
|
rs773676381 CA1316103 |
446 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1162282318 CA344055176 |
447 | E>Q | No |
ClinGen gnomAD |
|
|
CA1316106 COSM1337669 rs750928806 |
449 | V>I | large_intestine Variant assessed as Somatic; 4.621e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA35930946 rs199871331 |
452 | K>E | No |
ClinGen Ensembl |
|
|
rs1294957180 CA344055376 |
454 | L>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
| TCGA novel | 456 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1316110 rs755099462 |
457 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
CA344098167 rs1264241845 |
460 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA344098165 rs1199130844 |
460 | D>V | No |
ClinGen gnomAD |
|
|
CA1316132 rs761198995 |
461 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1466013205 CA344098170 |
461 | V>F | No |
ClinGen gnomAD |
|
|
rs1389090923 CA344098174 |
462 | K>E | No |
ClinGen gnomAD |
|
|
CA344098177 rs1482252196 |
462 | K>R | No |
ClinGen TOPMed |
|
| TCGA novel | 463 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA344098191 rs1447144880 |
464 | L>I | No |
ClinGen gnomAD |
|
|
rs1174901066 CA344098195 |
465 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 466 | N>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA344098215 rs1571594833 |
467 | F>S | No |
ClinGen Ensembl |
|
|
rs766924985 CA1316133 |
468 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA344098271 rs1386825200 |
475 | E>D | No |
ClinGen gnomAD |
|
|
rs1363395941 CA344098277 |
476 | Q>R | No |
ClinGen gnomAD |
|
|
CA1316136 rs765564537 |
478 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs752897392 CA1316139 |
479 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1286138099 CA344098295 |
479 | A>S | No |
ClinGen TOPMed |
|
|
rs752897392 CA1316138 |
479 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
COSM3803382 CA1316141 rs747092960 |
480 | A>T | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 485 | T>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs932350625 CA36315811 |
486 | M>I | No |
ClinGen Ensembl |
|
|
CA344098336 rs1303902307 |
486 | M>V | No |
ClinGen TOPMed |
|
|
CA344098345 rs1425565369 |
487 | C>G | No |
ClinGen TOPMed gnomAD |
|
|
CA344098344 rs1425565369 |
487 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
rs149054125 CA1316142 |
488 | N>K | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1571595003 CA344098361 |
489 | Y>S | No |
ClinGen Ensembl |
|
|
CA1316143 rs183953069 |
490 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA344098391 rs1473041723 |
493 | T>R | No |
ClinGen TOPMed |
|
|
CA1316145 rs768466796 |
494 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1389576054 CA344098393 |
494 | E>K | No |
ClinGen Ensembl |
|
|
CA344098405 rs1247035651 |
495 | K>I | No |
ClinGen gnomAD |
|
|
CA36315812 rs946976621 |
496 | F>S | No |
ClinGen TOPMed |
|
|
CA1316147 rs747798997 |
502 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1050922837 CA36315813 COSM901910 |
505 | E>K | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs1255470556 CA344098470 |
506 | I>V | No |
ClinGen TOPMed |
|
|
rs771306384 CA1316151 |
507 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA344098476 rs1200954942 COSM283360 |
507 | R>W | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs1158063982 CA344098503 |
511 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs777167598 CA1316152 |
511 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1386772005 CA344098528 |
514 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs4255412 CA36315814 |
515 | E>K | No |
ClinGen Ensembl |
|
|
rs1294245752 CA344098547 |
517 | L>F | No |
ClinGen gnomAD |
|
|
rs1366961248 CA344098556 |
518 | Y>C | No |
ClinGen gnomAD |
|
| TCGA novel | 518 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA344098562 rs1327806094 |
519 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA36315815 rs1015956920 |
521 | H>Q | No |
ClinGen gnomAD |
|
|
rs1385660607 CA344098580 |
521 | H>R | No |
ClinGen gnomAD |
|
|
CA344098584 rs1330342569 |
522 | L>V | No |
ClinGen gnomAD |
|
|
CA344098594 rs1060060 |
523 | N>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1316155 rs373453960 |
523 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA36315816 rs995931179 |
524 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA36315817 rs751586641 |
525 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs751586641 CA1316158 |
525 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA344098606 rs1487863979 |
526 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1188887185 CA344098617 |
527 | P>R | No |
ClinGen gnomAD |
|
|
CA1316160 rs781167513 |
528 | Y>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 531 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1316162 rs376108677 |
533 | I>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1316163 rs778784980 |
535 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA344098682 rs1165745711 |
537 | H>Y | No |
ClinGen gnomAD |
|
|
rs75501086 CA36315818 |
540 | R>I | No |
ClinGen Ensembl |
|
|
CA344098713 rs1391169897 |
541 | A>V | No |
ClinGen TOPMed |
|
|
rs1309886705 CA528508860 |
542 | A>C | No |
ClinGen TOPMed gnomAD |
No associated diseases with O00482
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| chromatin | The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| 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. |
| RNA polymerase II transcription regulator complex | A transcription factor complex that acts at a regulatory region of a gene transcribed by RNA polymerase II. |
13 GO annotations of molecular function
| Name | Definition |
|---|---|
| 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. |
| DNA binding | Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid). |
| DNA-binding transcription activator activity, RNA polymerase II-specific | A DNA-binding transcription factor activity that activates or increases transcription of specific gene sets transcribed by RNA polymerase II. |
| DNA-binding transcription factor activity | A transcription regulator activity that modulates transcription of gene sets via selective and non-covalent binding to a specific double-stranded genomic DNA sequence (sometimes referred to as a motif) within a cis-regulatory region. Regulatory regions include promoters (proximal and distal) and enhancers. Genes are transcriptional units, and include bacterial operons. |
| DNA-binding transcription factor activity, RNA polymerase II-specific | A DNA-binding transcription factor activity that modulates the transcription of specific gene sets transcribed by RNA polymerase II. |
| nuclear receptor activity | A DNA-binding transcription factor activity regulated by binding to a ligand that modulates the transcription of specific gene sets transcribed by RNA polymerase II. Nuclear receptor ligands are usually lipid-based (such as a steroid hormone) and the binding of the ligand to its receptor often occurs in the cytoplasm, which leads to its tranlocation to the nucleus. |
| phospholipid binding | Binding to a phospholipid, a class of lipids containing phosphoric acid as a mono- or diester. |
| RNA polymerase II cis-regulatory region sequence-specific DNA binding | Binding to a specific upstream regulatory DNA sequence (transcription factor recognition sequence or binding site) located in cis relative to the transcription start site (i.e., on the same strand of DNA) of a gene transcribed by RNA polymerase II. |
| sequence-specific DNA binding | Binding to DNA of a specific nucleotide composition, e.g. GC-rich DNA binding, or with a specific sequence motif or type of DNA e.g. promotor binding or rDNA binding. |
| sequence-specific double-stranded DNA binding | Binding to double-stranded DNA of a specific nucleotide composition, e.g. GC-rich DNA binding, or with a specific sequence motif or type of DNA, e.g. promotor binding or rDNA binding. |
| transcription cis-regulatory region binding | Binding to a specific sequence of DNA that is part of a regulatory region that controls transcription of that section of the DNA. The transcribed region might be described as a gene, cistron, or operon. |
| transcription coregulator binding | Binding to a transcription coregulator, a protein involved in regulation of transcription via protein-protein interactions with transcription factors and other transcription regulatory proteins. Cofactors do not bind DNA directly, but rather mediate protein-protein interactions between regulatory transcription factors and the basal transcription machinery. |
| zinc ion binding | Binding to a zinc ion (Zn). |
16 GO annotations of biological process
| Name | Definition |
|---|---|
| acinar cell differentiation | The epithelial cell differentiation process in which a relatively unspecialized cell acquires specialized features of an acinar cell, a secretory cell that is grouped together with other cells of the same type to form grape-shaped clusters known as acini. |
| bile acid metabolic process | The chemical reactions and pathways involving bile acids, a group of steroid carboxylic acids occurring in bile, where they are present as the sodium salts of their amides with glycine or taurine. |
| calcineurin-mediated signaling | Any intracellular signal transduction in which the signal is passed on within the cell by activation of a transcription factor as a consequence of dephosphorylation by Ca(2+)-activated calcineurin. The process begins with calcium-dependent activation of the phosphatase calcineurin. Calcineurin is a calcium- and calmodulin-dependent serine/threonine protein phosphatase with a conserved function in eukaryotic species from yeast to humans. In yeast and fungi, calcineurin regulates stress signaling and cell cycle, and sporulation and virulence in pathogenic fungi. In metazoans, calcineurin is involved in cell commitment, organogenesis and organ development and immune function of T-lymphocytes. By a conserved mechanism, calcineurin phosphatase activates fungal Crz1 and mammalian NFATc by dephosphorylation and translocation of these transcription factors to the nucleus to regulate gene expression. |
| 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. |
| cholesterol homeostasis | Any process involved in the maintenance of an internal steady state of cholesterol within an organism or cell. |
| embryo development ending in birth or egg hatching | The process whose specific outcome is the progression of an embryo over time, from zygote formation until the end of the embryonic life stage. The end of the embryonic life stage is organism-specific and may be somewhat arbitrary; for mammals it is usually considered to be birth, for insects the hatching of the first instar larva from the eggshell. |
| homeostatic process | Any biological process involved in the maintenance of an internal steady state. |
| hormone-mediated signaling pathway | The series of molecular signals mediated by the detection of a hormone. |
| pancreas morphogenesis | Morphogenesis of the pancreas. Morphogenesis is the process in which anatomical structures are generated and organized. |
| positive regulation of DNA-templated transcription | Any process that activates or increases the frequency, rate or extent of cellular DNA-templated transcription. |
| positive regulation of transcription by RNA polymerase II | Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter. |
| positive regulation of viral genome replication | Any process that activates or increases the frequency, rate or extent of viral genome replication. |
| regulation of cell population proliferation | Any process that modulates the frequency, rate or extent of cell proliferation. |
| regulation of DNA-templated transcription | Any process that modulates the frequency, rate or extent of cellular DNA-templated transcription. |
| regulation of transcription by RNA polymerase II | Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II. |
| tissue development | The process whose specific outcome is the progression of a tissue over time, from its formation to the mature structure. |
9 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q04752 | NR5A1 | Steroidogenic factor 1 | Bos taurus (Bovine) | PR |
| O42101 | NR5A2 | Nuclear receptor subfamily 5 group A member 2 | Gallus gallus (Chicken) | PR |
| Q13285 | NR5A1 | Steroidogenic factor 1 | Homo sapiens (Human) | PR |
| P33242 | Nr5a1 | Steroidogenic factor 1 | Mus musculus (Mouse) | PR |
| P45448 | Nr5a2 | Nuclear receptor subfamily 5 group A member 2 | Mus musculus (Mouse) | PR |
| P79387 | NR5A1 | Steroidogenic factor 1 | Sus scrofa (Pig) | PR |
| P50569 | Nr5a1 | Steroidogenic factor 1 | Rattus norvegicus (Rat) | PR |
| Q9QWM1 | Nr5a2 | Nuclear receptor subfamily 5 group A member 2 | Rattus norvegicus (Rat) | PR |
| Q19345 | nhr-25 | Nuclear hormone receptor family member nhr-25 | Caenorhabditis elegans | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSSNSDTGDL | QESLKHGLTP | IGAGLPDRHG | SPIPARGRLV | MLPKVETEAL | GLARSHGEQG |
| 70 | 80 | 90 | 100 | 110 | 120 |
| QMPENMQVSQ | FKMVNYSYDE | DLEELCPVCG | DKVSGYHYGL | LTCESCKGFF | KRTVQNNKRY |
| 130 | 140 | 150 | 160 | 170 | 180 |
| TCIENQNCQI | DKTQRKRCPY | CRFQKCLSVG | MKLEAVRADR | MRGGRNKFGP | MYKRDRALKQ |
| 190 | 200 | 210 | 220 | 230 | 240 |
| QKKALIRANG | LKLEAMSQVI | QAMPSDLTIS | SAIQNIHSAS | KGLPLNHAAL | PPTDYDRSPF |
| 250 | 260 | 270 | 280 | 290 | 300 |
| VTSPISMTMP | PHGSLQGYQT | YGHFPSRAIK | SEYPDPYTSS | PESIMGYSYM | DSYQTSSPAS |
| 310 | 320 | 330 | 340 | 350 | 360 |
| IPHLILELLK | CEPDEPQVQA | KIMAYLQQEQ | ANRSKHEKLS | TFGLMCKMAD | QTLFSIVEWA |
| 370 | 380 | 390 | 400 | 410 | 420 |
| RSSIFFRELK | VDDQMKLLQN | CWSELLILDH | IYRQVVHGKE | GSIFLVTGQQ | VDYSIIASQA |
| 430 | 440 | 450 | 460 | 470 | 480 |
| GATLNNLMSH | AQELVAKLRS | LQFDQREFVC | LKFLVLFSLD | VKNLENFQLV | EGVQEQVNAA |
| 490 | 500 | 510 | 520 | 530 | 540 |
| LLDYTMCNYP | QQTEKFGQLL | LRLPEIRAIS | MQAEEYLYYK | HLNGDVPYNN | LLIEMLHAKR |
| A |