| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 2516 |
Name | NR5A1 |
Synonymous | AD4BP|ELP|FTZ1|FTZF1|POF7|SF-1|SF1|SPGF8|SRXY3;nuclear receptor subfamily 5, group A, member 1;NR5A1;nuclear receptor subfamily 5, group A, member 1 |
Definition | STF-1|adrenal 4 binding protein|adrenal 4-binding protein|fushi tarazu factor homolog 1|nuclear receptor AdBP4|steroid hormone receptor Ad4BP|steroidogenic factor 1|steroidogenic factor 1 nuclear receptor|steroidogenic factor-1 |
Position | 9q33 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for NR5A1 | ||
PCGP somatic mutation [Top] | ||
There is no record for NR5A1 | ||
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.340C>T; p.R114W; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1019C>T; p.A340V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.64G>C; p.G22R; |
large_intestine; colon | adenoma |
c.1307A>G; p.Y436C; |
central_nervous_system; brain | glioma; astrocytoma_Grade_II |
c.786C>T; p.F262F; |
liver | carcinoma |
c.811C>T; p.Q271*; |
large_intestine; colon | carcinoma |
c.48C>T; p.C16C; |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma |
c.786C>T; p.F262F; |
liver | carcinoma |
c.1289G>A; p.S430N; |
lung | carcinoma; adenocarcinoma |
c.521C>G; p.P174R; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; hairy_cell_leukaemia |
c.521C>G; p.P174R; |
breast | carcinoma |
c.1260G>A; p.L420L; |
lung | carcinoma; squamous_cell_carcinoma |
c.1149C>G; p.F383L; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.268G>A; p.G90S; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.918G>A; p.L306L; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.1195G>A; p.A399T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.630G>A; p.P210P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1019C>T; p.A340V; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.472G>A; p.A158T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.184C>T; p.R62C; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.340C>T; p.R114W; |
endometrium | carcinoma; endometrioid_carcinoma |
c.728G>A; p.R243H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.87G>A; p.T29T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.260G>A; p.R87H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1195G>A; p.A399T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.521C>G; p.P174R; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; hairy_cell_leukaemia |
c.946C>T; p.Q316*; |
skin | malignant_melanoma |
c.832G>A; p.D278N; |
skin | malignant_melanoma |