Q13285
PR
Gene name |
NR5A1 (AD4BP, FTZF1, SF1) |
Protein name |
Steroidogenic factor 1 |
Names |
SF-1, STF-1, hSF-1, Adrenal 4-binding protein, Fushi tarazu factor homolog 1, Nuclear receptor subfamily 5 group A member 1, Steroid hormone receptor Ad4BP |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:2516 |
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
394 variants for Q13285
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV000013653 rs121918656 RCV000013652 |
1 | M>I | 46,XY sex reversal 3 Premature ovarian failure 7 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000013643 rs606231205 |
6 | D>missing | 46,XY sex reversal 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1554721883 RCV000502696 |
12 | L>missing | 46,XY sex reversal 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_063255 RCV000013644 rs104894124 CA122715 |
15 | V>M | 46,XY sex reversal 3 SRXY3; without adrenal failure [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA122712 rs104894123 RCV000013642 |
16 | C>* | 46,XY sex reversal 3 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
| VAR_079571 | 18 | D>del | SRXY3; loss of DNA-binding; significantly decreased transactivator activity [UniProt] | Yes | UniProt |
|
RCV001195742 CA374890669 rs1564153753 RCV002233535 |
30 | C>R | 46,XX sex reversal 4 Oligosynaptic infertility [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1832496590 RCV001269521 VAR_039106 |
33 | C>S | SRXY3; without adrenal failure; markedly impaired transcriptional activity [UniProt] | Yes |
ClinVar UniProt dbSNP |
|
VAR_004737 RCV000013638 CA122709 rs121918654 |
35 | G>E | 46,XY sex reversal 3 SRXY3; with adrenal failure [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
| VAR_079572 | 40 | T>P | SRXY3; loss of DNA-binding; significantly decreased transactivator activity [UniProt] | Yes | UniProt |
|
RCV001269583 rs1832494273 RCV001056064 |
44 | N>missing | Oligosynaptic infertility [ClinVar] | Yes |
ClinVar dbSNP |
|
CA210018 rs775441984 RCV000197157 |
51 | E>* | 46,XY sex reversal 3 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
| VAR_078136 | 65 | C>Y | SRXY3; without adrenal failure [UniProt] | Yes | UniProt |
|
RCV001568315 rs1832493257 RCV001204202 |
73 | C>W | Disorder of sexual differentiation Oligosynaptic infertility [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_063256 rs104894125 CA122716 RCV000013645 |
78 | M>I | Variant assessed as Somatic; impact. 46,XY sex reversal 3 SRXY3; without adrenal failure [NCI-TCGA, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl NCI-TCGA dbSNP |
|
rs1554721859 RCV000532275 |
79 | R>missing | Oligosynaptic infertility [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_039107 RCV002234233 rs375469069 RCV001805860 CA5235511 |
84 | R>H | Variant assessed as Somatic; 0.0 impact. 46,XY sex reversal 3 Oligosynaptic infertility SRXY3; without adrenal failure; markedly impaired transcriptional activity [NCI-TCGA, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC NCI-TCGA dbSNP gnomAD |
|
CA122717 RCV000013646 rs104894126 VAR_063257 |
91 | G>S | 46,XY sex reversal 3 SRXY3; without adrenal failure [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000013640 RCV000490549 CA122711 rs104894119 RCV000490544 VAR_016982 |
92 | R>Q | ADRENAL INSUFFICIENCY, NR5A1-RELATED 46,XX sex reversal 4 46,XY sex reversal 3 SRXY3, SRXX4 and AINR; decreased transactivator activity; no effect on nuclear location [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
VAR_078137 RCV000256210 RCV001855015 rs886039769 RCV001820799 RCV000490553 CA10588831 |
92 | R>W | 46,XX sex reversal 4 Variant assessed as Somatic; impact. 46,XY sex reversal 3 Oligosynaptic infertility SRXY3 and SRXX4; decreased transactivator activity; loss of DNA binding, at least to some known consensus target sequences; no effect on nuclear location [ClinVar, NCI-TCGA, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl NCI-TCGA dbSNP |
|
RCV001232154 rs1832456567 |
112 | Q>* | Oligosynaptic infertility [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000022775 RCV000013657 rs200163795 CA034488 RCV001582796 RCV002247684 VAR_062967 RCV003105834 |
123 | G>A | Spermatogenic failure 8 Premature ovarian failure 7 (pof7) Premature ovarian failure 7 Spermatogenic failure 8 (spgf8) Oligosynaptic infertility SPGF8 and POF7; activity levels similar to wild-type [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA034644 RCV000022775 RCV000013657 RCV003105833 rs200749741 VAR_062968 RCV001551809 |
129 | P>L | Spermatogenic failure 8 Premature ovarian failure 7 (pof7) Premature ovarian failure 7 Spermatogenic failure 8 (spgf8) Oligosynaptic infertility SPGF8 and POF7; loss of activity [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000013654 rs606231207 RCV000013655 |
131 | P>missing | 46,XY sex reversal 3 Premature ovarian failure 7 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000022776 VAR_065866 CA128717 rs387906690 |
131 | P>L | Spermatogenic failure 8 Spermatogenic failure 8 (spgf8) SPGF8; impairs transactivational activity [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001009238 rs1588622082 RCV002551723 |
133 | P>missing | Oligosynaptic infertility [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001315764 CA199729071 rs1012697512 |
134 | P>S | Oligosynaptic infertility [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001306883 CA199729024 rs944587497 |
143 | S>T | Oligosynaptic infertility [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000251828 rs1110061 RCV001660271 RCV001523405 COSM3763632 VAR_039108 CA5235469 |
146 | G>A | large_intestine Oligosynaptic infertility [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000984938 rs1588621944 |
152 | L>missing | 46,XY sex reversal 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs761496130 CA5235463 RCV002235033 RCV001816886 |
154 | A>T | Oligosynaptic infertility [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
VAR_065867 rs1253324106 CA374886741 |
191 | R>C | Variant assessed as Somatic; 0.0 impact. SPGF8; impairs transactivational activity [NCI-TCGA, UniProt] | Yes |
ClinGen UniProt NCI-TCGA dbSNP gnomAD |
|
rs201095702 CA128718 VAR_065868 RCV000022777 |
212 | G>S | Spermatogenic failure 8 Spermatogenic failure 8 (spgf8) SPGF8; impairs transactivational activity [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1832447335 RCV001333321 |
214 | P>missing | 46,XX sex reversal 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000013648 rs606231206 RCV000013649 |
222 | N>missing | 46,XY sex reversal 3 Premature ovarian failure 7 [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_062969 | 231 | L>del | POF7 [UniProt] | Yes | UniProt |
|
CA5235415 VAR_065869 rs780568525 |
238 | D>N | SPGF8; impairs transactivational activity [UniProt] | Yes |
ClinGen UniProt ExAC TOPMed dbSNP gnomAD |
|
COSM3728201 rs104894118 VAR_016983 COSM3728200 CA122710 RCV000013639 |
255 | R>L | ADRENAL INSUFFICIENCY, NR5A1-RELATED haematopoietic_and_lymphoid_tissue AINR [ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
VAR_062970 RCV000013650 RCV000013651 CA122720 rs121918655 |
293 | D>N | Premature ovarian failure 7 (pof7) 46,XY sex reversal 3 Premature ovarian failure 7 POF7; without adrenal failure; partial loss of activity [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000413900 RCV002230747 rs1057517779 CA16042654 RCV001662366 RCV000504282 |
313 | R>C | Genetic non-acquired premature ovarian failure 46,XY sex reversal 3 Oligosynaptic infertility [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000521048 CA374882277 RCV001662528 RCV002527576 rs1554721235 |
313 | R>H | Genetic non-acquired premature ovarian failure Variant assessed as Somatic; impact. Oligosynaptic infertility [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV000502487 rs1554721235 CA374882273 |
313 | R>L | 46,XY sex reversal 3 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002234245 CA374882245 rs201103618 |
314 | Q>H | Oligosynaptic infertility [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1832340912 RCV001231093 |
328 | G>R | Oligosynaptic infertility [ClinVar] | Yes |
ClinVar dbSNP |
|
CA279017 RCV000199384 rs863224904 |
404 | Y>D | 46,XY sex reversal 3 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002233712 rs1564146922 CA374878700 |
409 | Y>* | Oligosynaptic infertility [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001049873 rs1832149850 |
436 | Y>C | Oligosynaptic infertility [ClinVar] | Yes |
ClinVar dbSNP |
|
CA122718 VAR_063258 rs104894120 RCV000013647 |
437 | L>Q | 46,XY sex reversal 3 SRXY3; without adrenal failure [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs772463943 CA374890874 |
2 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA5235587 rs772463943 |
2 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA5235586 rs145936761 |
4 | S>L | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 6 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1588623499 CA374890802 |
10 | D>N | No |
ClinGen Ensembl |
|
|
rs142402038 CA374890787 |
11 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1184635512 CA374890792 |
11 | E>K | No |
ClinGen gnomAD |
|
|
rs1483566523 CA374890750 |
17 | G>E | No |
ClinGen gnomAD |
|
|
CA5235580 rs369688013 |
19 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369688013 CA5235581 |
19 | K>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA374890740 rs1207885611 |
19 | K>R | No |
ClinGen gnomAD |
|
|
CA374890719 rs1229862821 |
22 | G>A | No |
ClinGen gnomAD |
|
|
CA374890720 rs1229862821 |
22 | G>D | No |
ClinGen gnomAD |
|
|
rs1396949405 CA374890680 |
28 | L>F | No |
ClinGen gnomAD |
|
|
rs1832496555 RCV001269901 |
34 | K>* | No |
ClinVar dbSNP |
|
| TCGA novel | 34 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA374890577 rs1564153707 |
40 | T>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1226777203 CA374890574 |
41 | V>L | No |
ClinGen gnomAD |
|
|
rs1306371890 CA374890569 |
42 | Q>E | No |
ClinGen gnomAD |
|
|
CA199731118 rs982925101 |
44 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
CA374890530 rs1324211533 |
46 | H>Y | No |
ClinGen gnomAD |
|
|
rs753808161 CA374890498 |
48 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5235555 rs753808161 |
48 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 48 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1291621949 CA374890489 |
49 | C>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1423734172 CA374890470 |
50 | T>I | No |
ClinGen gnomAD |
|
|
CA5235552 rs775441984 |
51 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs767689890 CA5235551 TCGA novel |
53 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC gnomAD NCI-TCGA |
|
rs759670090 CA5235550 |
54 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs184724257 CA199731100 |
55 | C>Y | No |
ClinGen 1000Genomes |
|
| TCGA novel | 58 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 58 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5235549 rs774672292 |
58 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1198949266 CA374890340 |
60 | T>M | No |
ClinGen gnomAD |
|
|
CA374890337 rs1198949266 |
60 | T>R | No |
ClinGen gnomAD |
|
|
CA374890288 rs1221228427 |
64 | R>H | No |
ClinGen gnomAD |
|
|
rs1264797523 CA374890294 |
64 | R>S | No |
ClinGen gnomAD |
|
| TCGA novel | 66 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA645372871 RCV000500900 rs1554721866 |
69 | R>F | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs867871426 CA199731068 |
71 | Q>* | No |
ClinGen Ensembl |
|
|
rs865902758 CA199731054 CA199731060 |
71 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1275580027 CA374890146 |
75 | T>K | No |
ClinGen gnomAD |
|
|
rs1275580027 CA374890143 |
75 | T>M | No |
ClinGen gnomAD |
|
|
CA199731052 rs868587601 |
79 | R>C | No |
ClinGen Ensembl |
|
|
CA199729248 rs944569341 |
85 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA374889106 rs1380336864 |
86 | D>N | No |
ClinGen TOPMed |
|
|
rs751670386 CA5235509 |
86 | D>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 86 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs866712684 CA199729238 |
87 | R>C | No |
ClinGen Ensembl |
|
|
CA374889070 rs1185991537 COSM1459956 |
87 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
| TCGA novel | 90 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 96 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1219603220 CA374888855 |
97 | P>L | No |
ClinGen gnomAD |
|
|
rs1248644159 CA374888858 |
97 | P>S | No |
ClinGen gnomAD |
|
|
CA5235507 rs763139596 |
98 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA5235506 rs750682280 |
101 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374888800 rs1205786059 |
101 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1213451480 CA374888755 |
103 | R>Q | No |
ClinGen gnomAD |
|
|
rs988948243 CA199729205 |
103 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA374888588 rs1564152710 |
112 | Q>H | No |
ClinGen Ensembl |
|
|
CA374888558 rs758926446 |
114 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5235500 rs758926446 |
114 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769207009 CA5235501 COSM1105074 |
114 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 119 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA374888388 rs770608642 |
121 | E>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 121 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs867059215 CA199729181 |
122 | T>K | No |
ClinGen gnomAD |
|
|
CA374888355 rs200163795 |
123 | G>E | Premature ovarian failure 7 (pof7) Spermatogenic failure 8 (spgf8) [Ensembl] | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA5235497 rs777629132 |
124 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA5235495 rs780952265 |
125 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5235494 rs780952265 |
125 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374888321 rs1182612792 |
125 | P>S | No |
ClinGen gnomAD |
|
|
rs780076019 CA5235491 |
126 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5235492 rs751547175 |
126 | M>K | No |
ClinGen ExAC gnomAD |
|
|
CA374888306 rs1249512549 |
126 | M>V | No |
ClinGen gnomAD |
|
|
CA5235490 rs758539153 |
127 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374888281 rs1426643921 |
127 | G>R | No |
ClinGen TOPMed |
|
| TCGA novel | 128 | V>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5235488 rs765508480 |
128 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA5235485 rs201340156 |
130 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs201340156 CA374888204 |
130 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374888211 rs1298129792 |
130 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA5235480 rs747849666 |
132 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1159679614 CA374888122 |
134 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs370937712 CA5235478 |
135 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1319318632 CA374888099 |
135 | A>V | No |
ClinGen TOPMed |
|
|
rs780022827 CA5235476 |
136 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs780022827 CA5235477 |
136 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5235474 rs745949372 |
137 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA374888068 rs745949372 |
137 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs778959828 CA5235473 |
138 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA374888005 rs1268407961 |
139 | V>M | No |
ClinGen gnomAD |
|
|
CA5235470 rs373018131 |
141 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA374887928 rs1229458260 |
142 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA374887884 rs1451961814 |
144 | L>P | No |
ClinGen gnomAD |
|
|
rs1110061 CA374887846 |
146 | G>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA374887856 rs1389416336 |
146 | G>W | No |
ClinGen gnomAD |
|
|
rs1336134272 CA374887819 |
148 | E>A | No |
ClinGen gnomAD |
|
|
CA374887830 rs1361853916 |
148 | E>K | No |
ClinGen gnomAD |
|
|
CA5235465 rs772802571 |
149 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA5235466 rs762513374 |
149 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA374887776 rs1181638409 |
151 | G>S | No |
ClinGen gnomAD |
|
|
CA374887761 rs1460506177 |
151 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1305138253 CA374887741 |
153 | A>D | No |
ClinGen TOPMed |
|
|
CA374887728 rs761496130 |
154 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs376480904 CA5235460 |
155 | G>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1306953099 CA374887701 |
155 | G>D | No |
ClinGen TOPMed |
|
|
rs376480904 COSM3699414 CA5235461 |
155 | G>S | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs775336860 CA5235459 |
156 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1322643873 CA374887668 |
157 | P>A | No |
ClinGen TOPMed |
|
|
CA374887652 rs1324068281 |
157 | P>L | No |
ClinGen gnomAD |
|
|
rs1322643873 CA374887665 |
157 | P>S | No |
ClinGen TOPMed |
|
|
CA374887642 rs1313590445 COSM1105073 |
158 | A>T | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA199728981 rs972138346 |
159 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs772025425 CA5235458 |
159 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374887603 rs1366036879 |
160 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 162 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1380810335 CA374887521 |
162 | G>V | No |
ClinGen gnomAD |
|
|
CA374887493 rs1458251800 |
163 | D>E | No |
ClinGen gnomAD |
|
|
CA5235453 rs377294547 |
163 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1479602188 CA374887472 |
164 | F>S | No |
ClinGen TOPMed |
|
|
CA374887434 rs1161611668 |
165 | G>E | No |
ClinGen gnomAD |
|
|
CA5235452 rs535621711 |
165 | G>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs755520303 CA5235449 |
166 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA5235450 rs768090274 |
166 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755520303 CA374887032 |
166 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs752047719 CA5235448 |
167 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5235447 rs761286499 |
168 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs934777067 CA199728937 |
168 | A>P | No |
ClinGen gnomAD |
|
|
rs934777067 CA374887026 |
168 | A>T | No |
ClinGen gnomAD |
|
|
rs761286499 CA5235446 |
168 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1490948902 CA374887015 |
170 | P>H | No |
ClinGen gnomAD |
|
|
rs1490948902 CA374887013 |
170 | P>L | No |
ClinGen gnomAD |
|
|
CA5235445 rs776287853 |
171 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1383601199 CA374887004 |
172 | A>T | No |
ClinGen TOPMed |
|
|
CA199728919 rs978825204 |
172 | A>V | No |
ClinGen TOPMed |
|
| TCGA novel | 173 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5235444 rs557479620 |
173 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA199728906 rs746821998 |
174 | P>L | No |
ClinGen TOPMed |
|
|
CA374886966 rs1302275391 |
175 | G>D | No |
ClinGen gnomAD |
|
|
CA199728905 rs960530026 |
175 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1388686107 CA374886955 |
176 | A>D | No |
ClinGen gnomAD |
|
|
CA374886952 rs1388686107 |
176 | A>V | No |
ClinGen gnomAD |
|
|
rs543895681 CA5235442 |
178 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1424006931 CA374886918 |
178 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA374886907 rs1228741446 |
179 | P>L | No |
ClinGen TOPMed |
|
|
CA5235441 rs759483272 |
181 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA374886878 rs1460050353 |
182 | G>A | No |
ClinGen gnomAD |
|
|
rs1004765066 CA199728884 |
182 | G>S | No |
ClinGen Ensembl |
|
|
CA199728878 rs998601996 |
185 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1199132036 CA374886815 |
186 | P>L | No |
ClinGen gnomAD |
|
|
CA374886816 rs1267292857 |
186 | P>S | No |
ClinGen gnomAD |
|
|
CA374886771 rs1483691434 |
189 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA374886769 rs1483691434 |
189 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1194536074 CA374886740 |
191 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs967058845 CA199728874 |
194 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1235791657 CA374886678 |
196 | E>K | No |
ClinGen gnomAD |
|
|
rs774216266 CA5235440 |
198 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1321661375 CA374886655 |
198 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1330835785 CA374886639 |
200 | P>L | No |
ClinGen gnomAD |
|
|
rs778017949 CA5235437 |
200 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5235438 rs778017949 |
200 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374886630 rs1395147944 |
202 | A>T | No |
ClinGen gnomAD |
|
|
rs867263463 CA199728855 |
202 | A>V | No |
ClinGen gnomAD |
|
|
rs770165012 CA5235436 |
203 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1405762536 CA374886593 |
204 | P>L | No |
ClinGen TOPMed |
|
|
CA5235433 rs755459988 |
205 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA199728839 rs994537016 |
205 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs994537016 CA374886587 |
205 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA374886588 rs755459988 |
205 | P>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 205 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5235432 rs752093373 |
206 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA374886563 rs1437757608 |
207 | P>A | No |
ClinGen gnomAD |
|
|
CA374886541 rs1257024724 |
208 | G>E | No |
ClinGen gnomAD |
|
|
CA374886532 rs1205624250 |
209 | L>Q | No |
ClinGen gnomAD |
|
|
rs900214501 CA199728830 |
210 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA374886526 rs1262783708 |
210 | P>T | No |
ClinGen gnomAD |
|
|
rs201548212 CA5235429 |
211 | Y>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs202111164 CA5235427 |
213 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA374886481 rs1334298714 |
213 | Y>H | No |
ClinGen gnomAD |
|
|
CA5235426 rs767290122 |
216 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1335690041 CA374886427 |
216 | P>T | No |
ClinGen gnomAD |
|
|
CA199728792 rs1052978706 |
221 | P>A | No |
ClinGen TOPMed |
|
|
rs759267354 CA5235425 |
221 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA374886338 rs558743021 |
222 | N>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs74535046 CA374886329 |
223 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5235423 rs74535046 |
223 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1185920944 CA374886318 |
224 | P>S | No |
ClinGen gnomAD |
|
|
CA374886322 rs1185920944 |
224 | P>T | No |
ClinGen gnomAD |
|
|
rs1442877353 CA374886308 |
225 | E>K | No |
ClinGen gnomAD |
|
|
CA5235422 rs763041541 |
226 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA199728756 rs948033599 |
229 | Q>E | No |
ClinGen TOPMed |
|
| TCGA novel | 229 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770034922 CA5235420 |
229 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA374886216 rs1174845208 |
230 | L>V | No |
ClinGen TOPMed |
|
|
CA199728740 rs576960513 |
233 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA5235417 rs199761539 |
235 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA374886115 rs1248008364 |
235 | P>S | No |
ClinGen gnomAD |
|
|
CA374886099 rs1435439534 |
236 | D>H | No |
ClinGen gnomAD |
|
|
rs1346576504 CA374886088 |
236 | D>V | No |
ClinGen gnomAD |
|
|
rs758848326 CA5235414 |
238 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA374886059 rs780568525 |
238 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1391842898 CA374886026 |
239 | Q>H | No |
ClinGen gnomAD |
|
|
CA374886008 rs1588621807 |
240 | V>G | No |
ClinGen Ensembl |
|
|
rs777229558 CA5235412 |
241 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1189281373 CA374885977 |
242 | A>V | No |
ClinGen gnomAD |
|
|
rs752292248 CA5235410 |
243 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
COSM1105072 rs767165390 CA5235409 |
243 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1461725878 CA374885952 |
244 | I>L | No |
ClinGen Ensembl |
|
|
CA374885924 rs1588621787 |
245 | L>S | No |
ClinGen Ensembl |
|
|
CA5235407 rs751335447 |
246 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1446228168 CA374885908 |
246 | G>R | No |
ClinGen gnomAD |
|
|
rs1224716069 CA374885893 |
247 | C>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1224716069 CA374885894 |
247 | C>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 247 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1225246400 CA374885838 |
249 | Q>R | No |
ClinGen TOPMed |
|
|
CA374885782 rs967132556 |
251 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA199728702 rs967132556 |
251 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA374885746 rs1363395254 |
252 | T>I | No |
ClinGen gnomAD |
|
|
rs766248393 CA5235406 |
252 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 253 | K>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1268065200 CA374885736 |
253 | K>E | No |
ClinGen gnomAD |
|
|
rs762769507 CA5235405 |
255 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA199728689 rs104894118 |
255 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761998023 CA199728661 |
256 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761998023 CA5235403 |
256 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768790387 CA5235401 |
257 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs141502483 CA5235402 |
257 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs148356103 CA5235400 |
259 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA374885591 rs1478477850 |
260 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
CA374885588 rs1478477850 |
260 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs899019971 CA199728653 |
261 | A>S | No |
ClinGen TOPMed |
|
|
rs143355429 CA5235396 |
263 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1367055432 CA374885512 |
264 | L>F | No |
ClinGen TOPMed |
|
|
rs1564152272 CA374885464 |
266 | C>F | No |
ClinGen Ensembl |
|
|
CA5235393 rs747689798 |
267 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780777430 CA5235392 |
269 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs751267643 CA374885390 |
270 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA199728588 rs964393137 |
270 | D>N | No |
ClinGen gnomAD |
|
|
CA374885363 rs1246461179 |
272 | T>I | No |
ClinGen TOPMed |
|
|
rs1017234984 CA199728548 |
274 | I>T | No |
ClinGen Ensembl |
|
|
rs1270307085 CA374885343 |
274 | I>V | No |
ClinGen gnomAD |
|
|
rs1064794281 RCV000487101 CA16618733 |
279 | W>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA199728534 rs376558631 |
281 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed |
|
rs1489962933 CA374885134 |
284 | M>I | No |
ClinGen gnomAD |
|
|
rs1046426869 CA199728521 |
284 | M>T | No |
ClinGen TOPMed |
|
|
rs750327837 CA5235387 |
284 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1215413761 CA374885083 |
288 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA374882776 rs1452266877 |
292 | A>T | No |
ClinGen gnomAD |
|
|
CA199722611 rs955622755 |
294 | Q>R | No |
ClinGen TOPMed |
|
|
CA5235353 rs201151141 |
296 | T>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA374882606 rs1564150329 |
299 | Q>K | No |
ClinGen Ensembl |
|
|
rs1343166085 CA374882599 |
299 | Q>R | No |
ClinGen gnomAD |
|
|
CA5235350 rs745564225 |
304 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs376707580 CA374882386 |
308 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 309 | D>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 317 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs371615255 CA5235343 |
318 | G>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA5235342 rs759727563 |
321 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751846262 CA5235341 |
324 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1327061057 CA374881966 |
326 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA374881875 rs1380687702 |
330 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA199720892 rs866097133 |
334 | T>I | No |
ClinGen Ensembl |
|
|
CA199720903 rs956455559 |
334 | T>P | No |
ClinGen TOPMed |
|
|
rs868545714 CA199720875 |
336 | V>M | No |
ClinGen Ensembl |
|
|
rs1366087888 CA374880935 |
339 | Q>K | No |
ClinGen gnomAD |
|
|
rs1180221940 CA374880901 |
340 | A>T | No |
ClinGen gnomAD |
|
|
CA5235304 rs780199277 COSM1217807 |
340 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA5235302 rs750650494 |
342 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1276308797 CA374880845 |
343 | L>P | No |
ClinGen gnomAD |
|
| TCGA novel | 346 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1199637130 CA374880804 |
346 | S>R | No |
ClinGen gnomAD |
|
|
CA5235301 rs765627522 |
348 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA374880787 rs765627522 |
348 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA5235298 rs764699692 |
350 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374880767 rs764699692 |
350 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754336683 CA5235299 |
350 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759071081 CA5235297 |
351 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374880756 rs1588617611 |
352 | Q>R | No |
ClinGen Ensembl |
|
|
rs765851097 CA374880735 |
354 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs371701248 CA5235294 |
355 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1554721033 RCV000480927 |
355 | V>missing | No |
ClinVar dbSNP |
|
|
rs1387520751 CA374880679 |
357 | Q>H | No |
ClinGen gnomAD |
|
|
rs1401671614 CA374880688 |
357 | Q>R | No |
ClinGen gnomAD |
|
|
CA374880650 rs369097872 |
360 | A>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5235292 rs369097872 |
360 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA374880628 rs1385999041 |
362 | Q>K | No |
ClinGen gnomAD |
|
|
CA5235290 rs776512585 |
364 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA5235289 rs768601471 |
365 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1564149534 CA374880576 |
365 | R>W | No |
ClinGen Ensembl |
|
|
rs1400600637 CA374880564 |
366 | Q>* | No |
ClinGen TOPMed |
|
|
CA374880561 rs1237152656 |
366 | Q>P | No |
ClinGen gnomAD |
|
|
CA374880536 rs1447380106 |
367 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA5235288 rs76323457 |
367 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1397541589 CA374880416 |
375 | I>V | No |
ClinGen TOPMed |
|
| TCGA novel | 375 | I>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs772109827 CA5235286 |
376 | L>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 378 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA374880369 rs1291920464 |
378 | S>N | No |
ClinGen gnomAD |
|
|
rs200939258 CA5235265 |
381 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs758389267 CA199714494 |
386 | N>K | No |
ClinGen Ensembl |
|
|
CA5235263 rs756608180 |
386 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA5235262 rs753198272 |
389 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA374878961 rs1245669605 |
390 | V>M | No |
ClinGen gnomAD |
|
|
rs781555907 CA5235261 |
392 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA16042758 RCV000413729 rs1057518497 |
394 | Q>E | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA374878872 rs1324723846 |
396 | K>N | No |
ClinGen gnomAD |
|
|
rs745706339 CA199714459 |
396 | K>R | No |
ClinGen gnomAD |
|
|
rs745706339 CA374878877 |
396 | K>T | No |
ClinGen gnomAD |
|
|
rs981580861 CA199714451 COSM1459954 |
399 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA5235257 rs761421822 |
400 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1588613754 CA915947188 |
403 | D>E | No |
ClinGen Ensembl |
|
|
rs1588613754 RCV001008928 |
403 | D>ERRSGEGQRRPA* | No |
ClinVar dbSNP |
|
|
rs150382425 CA374878791 |
403 | D>H | No |
ClinGen ESP ExAC gnomAD |
|
|
CA5235254 rs150382425 |
403 | D>N | No |
ClinGen ESP ExAC gnomAD |
|
|
CA5235253 rs775427299 |
405 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1588613748 CA374878765 |
405 | T>P | No |
ClinGen Ensembl |
|
|
CA199714411 rs531046566 |
408 | H>Y | No |
ClinGen Ensembl |
|
| TCGA novel | 409 | Y>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA374878697 rs1431404986 |
410 | P>A | No |
ClinGen gnomAD |
|
|
rs1206524252 CA374878687 |
410 | P>L | No |
ClinGen TOPMed |
|
|
CA374878695 rs1431404986 |
410 | P>T | No |
ClinGen gnomAD |
|
|
CA199714401 rs974609508 |
413 | G>E | No |
ClinGen TOPMed |
|
|
rs771205237 CA5235249 |
413 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1419789392 CA374878635 |
414 | D>G | No |
ClinGen TOPMed |
|
|
rs1182173436 CA374878642 |
414 | D>N | No |
ClinGen TOPMed |
|
|
rs1588613729 CA374878602 |
416 | F>S | No |
ClinGen Ensembl |
|
|
rs868533131 CA199714398 |
418 | Q>H | No |
ClinGen Ensembl |
|
|
rs1026030730 CA199714394 |
424 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1461480156 CA374878474 |
426 | V>M | No |
ClinGen gnomAD |
|
|
CA5235247 rs151191539 |
427 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA374878451 rs1466260501 |
428 | A>T | No |
ClinGen TOPMed |
|
|
rs971797860 CA199714370 |
431 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1285590867 CA374878404 |
431 | M>T | No |
ClinGen gnomAD |
|
|
CA5235244 rs781689236 |
438 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA5235242 rs747591272 |
441 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA5235241 rs778281289 |
443 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374878087 rs1588613690 |
450 | N>T | No |
ClinGen Ensembl |
|
|
rs1378009951 CA374878039 |
454 | E>K | No |
ClinGen gnomAD |
|
|
CA5235238 rs763737945 |
457 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA199714329 rs867106298 |
458 | A>D | No |
ClinGen gnomAD |
|
|
rs867106298 CA374877966 |
458 | A>V | No |
ClinGen gnomAD |
|
|
rs755859743 CA5235237 |
459 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA5235236 rs146454575 |
460 | Q>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5235235 rs146454575 |
460 | Q>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA199714320 RCV000493185 rs146454575 |
460 | Q>R | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
5 associated diseases with Q13285
[MIM: 612965]: 46,XY sex reversal 3 (SRXY3)
A condition characterized by male-to-female sex reversal in the presence of a normal 46,XY karyotype. {ECO:0000269|PubMed:10369247, ECO:0000269|PubMed:11932325, ECO:0000269|PubMed:17200175, ECO:0000269|PubMed:17694559, ECO:0000269|PubMed:24405868, ECO:0000269|PubMed:27378692, ECO:0000269|PubMed:27490115, ECO:0000269|PubMed:28459839}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 617480]: 46,XX sex reversal 4 (SRXX4)
A condition in which male gonads develop in a genetic female (female to male sex reversal). {ECO:0000269|PubMed:27378692, ECO:0000269|PubMed:27490115, ECO:0000269|PubMed:27610946, ECO:0000269|PubMed:27855412}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 612964]: Adrenal insufficiency, NR5A1-related (AINR)
A disorder characterized by adrenal insufficiency, muscular hypotonia, decreased sodium and increased potassium levels, elevated ACTH, salt-wasting crisis, prolonged jaundice, hypoglycemia, and vomiting. {ECO:0000269|PubMed:11038323, ECO:0000269|PubMed:26523528}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 612964]: Premature ovarian failure 7 (POF7)
An ovarian disorder defined as the cessation of ovarian function under the age of 40 years. It is characterized by oligomenorrhea or amenorrhea, in the presence of elevated levels of serum gonadotropins and low estradiol. {ECO:0000269|PubMed:19246354}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 613957]: Spermatogenic failure 8 (SPGF8)
An infertility disorder characterized by spermatogenesis failure and severe oligozoospermia. {ECO:0000269|PubMed:20887963}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A condition characterized by male-to-female sex reversal in the presence of a normal 46,XY karyotype. {ECO:0000269|PubMed:10369247, ECO:0000269|PubMed:11932325, ECO:0000269|PubMed:17200175, ECO:0000269|PubMed:17694559, ECO:0000269|PubMed:24405868, ECO:0000269|PubMed:27378692, ECO:0000269|PubMed:27490115, ECO:0000269|PubMed:28459839}. Note=The disease is caused by variants affecting the gene represented in this entry.
- A condition in which male gonads develop in a genetic female (female to male sex reversal). {ECO:0000269|PubMed:27378692, ECO:0000269|PubMed:27490115, ECO:0000269|PubMed:27610946, ECO:0000269|PubMed:27855412}. Note=The disease is caused by variants affecting the gene represented in this entry.
- A disorder characterized by adrenal insufficiency, muscular hypotonia, decreased sodium and increased potassium levels, elevated ACTH, salt-wasting crisis, prolonged jaundice, hypoglycemia, and vomiting. {ECO:0000269|PubMed:11038323, ECO:0000269|PubMed:26523528}. Note=The disease is caused by variants affecting the gene represented in this entry.
- An ovarian disorder defined as the cessation of ovarian function under the age of 40 years. It is characterized by oligomenorrhea or amenorrhea, in the presence of elevated levels of serum gonadotropins and low estradiol. {ECO:0000269|PubMed:19246354}. Note=The disease is caused by variants affecting the gene represented in this entry.
- An infertility disorder characterized by spermatogenesis failure and severe oligozoospermia. {ECO:0000269|PubMed:20887963}. Note=The disease is caused by variants affecting the gene represented in this entry.
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| chromatin | The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| 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. |
12 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 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. |
| enzyme binding | Binding to an enzyme, a protein with catalytic activity. |
| 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. |
| RNA polymerase II transcription regulatory region sequence-specific DNA binding | Binding to a specific sequence of DNA that is part of a regulatory region that controls the transcription of a gene or cistron 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 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). |
23 GO annotations of biological process
| Name | Definition |
|---|---|
| adrenal gland development | The process whose specific outcome is the progression of the adrenal gland over time, from its formation to the mature structure. This gland can either be a discrete structure located bilaterally above each kidney, or a cluster of cells in the head kidney that perform the functions of the adrenal gland. In either case, this organ consists of two cells types, aminergic chromaffin cells and steroidogenic cortical cells. |
| 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. |
| female gonad development | The process whose specific outcome is the progression of the female gonad over time, from its formation to the mature structure. |
| hormone metabolic process | The chemical reactions and pathways involving any hormone, naturally occurring substances secreted by specialized cells that affects the metabolism or behavior of other cells possessing functional receptors for the hormone. |
| hormone-mediated signaling pathway | The series of molecular signals mediated by the detection of a hormone. |
| Leydig cell differentiation | The process in which a relatively unspecialized cell acquires specialized structural and/or functional features of a Leydig cell. A Leydig cell is a testosterone-secreting cell in the interstitial area, between the seminiferous tubules, in the testis. |
| luteinization | The set of processes resulting in differentiation of theca and granulosa cells into luteal cells and in the formation of a corpus luteum after ovulation. |
| maintenance of protein location in nucleus | Any process in which a protein is maintained in the nucleus and prevented from moving elsewhere. These include sequestration within the nucleus, protein stabilization to prevent transport elsewhere and the active retrieval of proteins that escape the nucleus. |
| male gonad development | The process whose specific outcome is the progression of the male gonad over time, from its formation to the mature structure. |
| male sex determination | The specification of male sex of an individual organism. |
| multicellular organism aging | An aging process that has as participant a whole multicellular organism. Multicellular organism aging includes loss of functions such as resistance to disease, homeostasis, and fertility, as well as wear and tear. Multicellular organisms aging includes processes like cellular senescence and organ senescence, but is more inclusive. May precede death (GO:0016265) of an organism and may succeed developmental maturation (GO:0021700). |
| negative regulation of female gonad development | Any process that stops, prevents, or reduces the frequency, rate or extent of female gonad development. |
| positive regulation of gene expression | Any process that increases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA). |
| positive regulation of male gonad development | Any process that activates or increases the frequency, rate or extent of male gonad development. |
| 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. |
| primary sex determination | The sex determination process that results in the initial specification of sexual status of an individual organism. |
| regulation of steroid biosynthetic process | Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of steroids, compounds with a 1,2,cyclopentanoperhydrophenanthrene nucleus. |
| regulation of transcription by RNA polymerase II | Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II. |
| response to gonadotropin-releasing hormone | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a gonadotropin-releasing hormone stimulus. Gonadotropin-releasing hormone (GnRH) is a peptide hormone responsible for the release of follicle-stimulating hormone (FSH) and luteinizing hormone (LH) from the anterior pituitary. GnRH is synthesized and released by the hypothalamus. |
| Sertoli cell differentiation | The process in which a relatively unspecialized cell acquires specialized structural and/or functional features of a Sertoli cell. A Sertoli cell is a supporting cell projecting inward from the basement membrane of seminiferous tubules. |
| sex determination | Any process that establishes and transmits the specification of sexual status of an individual organism. |
| tissue development | The process whose specific outcome is the progression of a tissue over time, from its formation to the mature structure. |
| transcription by RNA polymerase II | The synthesis of RNA from a DNA template by RNA polymerase II (RNAP II), originating at an RNA polymerase II promoter. Includes transcription of messenger RNA (mRNA) and certain small nuclear RNAs (snRNAs). |
10 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 |
| Q9GKL2 | NR5A1 | Steroidogenic factor 1 | Equus caballus (Horse) | PR |
| O00482 | NR5A2 | Nuclear receptor subfamily 5 group A member 2 | Homo sapiens (Human) | PR |
| P45448 | Nr5a2 | Nuclear receptor subfamily 5 group A member 2 | Mus musculus (Mouse) | PR |
| P33242 | Nr5a1 | Steroidogenic factor 1 | Mus musculus (Mouse) | PR |
| P79387 | NR5A1 | Steroidogenic factor 1 | Sus scrofa (Pig) | PR |
| Q9QWM1 | Nr5a2 | Nuclear receptor subfamily 5 group A member 2 | Rattus norvegicus (Rat) | PR |
| P50569 | Nr5a1 | Steroidogenic factor 1 | Rattus norvegicus (Rat) | PR |
| Q19345 | nhr-25 | Nuclear hormone receptor family member nhr-25 | Caenorhabditis elegans | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MDYSYDEDLD | ELCPVCGDKV | SGYHYGLLTC | ESCKGFFKRT | VQNNKHYTCT | ESQSCKIDKT |
| 70 | 80 | 90 | 100 | 110 | 120 |
| QRKRCPFCRF | QKCLTVGMRL | EAVRADRMRG | GRNKFGPMYK | RDRALKQQKK | AQIRANGFKL |
| 130 | 140 | 150 | 160 | 170 | 180 |
| ETGPPMGVPP | PPPPAPDYVL | PPSLHGPEPK | GLAAGPPAGP | LGDFGAPALP | MAVPGAHGPL |
| 190 | 200 | 210 | 220 | 230 | 240 |
| AGYLYPAFPG | RAIKSEYPEP | YASPPQPGLP | YGYPEPFSGG | PNVPELILQL | LQLEPDEDQV |
| 250 | 260 | 270 | 280 | 290 | 300 |
| RARILGCLQE | PTKSRPDQPA | AFGLLCRMAD | QTFISIVDWA | RRCMVFKELE | VADQMTLLQN |
| 310 | 320 | 330 | 340 | 350 | 360 |
| CWSELLVFDH | IYRQVQHGKE | GSILLVTGQE | VELTTVATQA | GSLLHSLVLR | AQELVLQLLA |
| 370 | 380 | 390 | 400 | 410 | 420 |
| LQLDRQEFVC | LKFIILFSLD | LKFLNNHILV | KDAQEKANAA | LLDYTLCHYP | HCGDKFQQLL |
| 430 | 440 | 450 | 460 | ||
| LCLVEVRALS | MQAKEYLYHK | HLGNEMPRNN | LLIEMLQAKQ | T |