| General information | Literature | Expression | Regulation | Mutation | Homolog | Interaction |
Basic Information | |
|---|---|
Gene ID | 6715 |
Name | SRD5A1 |
Synonymous | steroid-5-alpha-reductase, alpha polypeptide 1 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 1);SRD5A1;steroid-5-alpha-reductase, alpha polypeptide 1 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 1) |
Definition | 3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 1|3-oxo-5-alpha-steroid 4-dehydrogenase 1|5-alpha reductase|SR type 1|steroid 5-alpha-reductase 1|steroid 5-alpha-reductase type I |
Position | 5p15 |
Gene Type | protein-coding |
COSMIC somatic mutation [Top] | |||
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.714-2A>T; p.?; 5:6668200-6668200 |
lung | carcinoma; squamous_cell_carcinoma | Unknown |
c.307C>G; p.P103A; 5:6651855-6651855 |
pancreas | carcinoma | Substitution - Missense |
c.199C>G; p.P67A; 5:6633775-6633775 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.369C>T; p.F123F; 5:6651917-6651917 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.369C>T; p.F123F; 5:6651917-6651917 |
skin | malignant_melanoma | Substitution - coding silent |
c.629C>T; p.A210V; 5:6662882-6662882 |
skin | malignant_melanoma | Substitution - Missense |
c.629C>T; p.A210V; 5:6662882-6662882 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.629C>T; p.A210V; 5:6662882-6662882 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.397A>G; p.R133G; 5:6651945-6651945 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.211T>C; p.Y71H; 5:6633787-6633787 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.161C>T; p.A54V; 5:6633737-6633737 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.644C>T; p.S215F; 5:6662897-6662897 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.445C>T; p.P149S; 5:6651993-6651993 |
skin | malignant_melanoma | Substitution - Missense |
c.353C>T; p.T118I; 5:6651901-6651901 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.574G>A; p.E192K; 5:6662827-6662827 |
skin | malignant_melanoma | Substitution - Missense |
c.460G>C; p.G154R; 5:6652008-6652008 |
breast | carcinoma | Substitution - Missense |
c.665C>T; p.A222V; 5:6662918-6662918 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.325G>T; p.G109*; 5:6651873-6651873 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.294-1G>T; p.?; 5:6651841-6651841 |
breast | carcinoma | Unknown |
c.675G>A; p.T225T; 5:6662928-6662928 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.188C>T; p.S63L; 5:6633764-6633764 |
skin; extremity | malignant_melanoma | Substitution - Missense |
c.360G>A; p.A120A; 5:6651908-6651908 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.657G>A; p.A219A; 5:6662910-6662910 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.647T>C; p.V216A; 5:6662900-6662900 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.507T>C; p.D169D; 5:6656124-6656124 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.489G>A; p.L163L; 5:6656106-6656106 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.238C>T; p.R80C; 5:6633814-6633814 |
skin | malignant_melanoma | Substitution - Missense |
c.618G>T; p.W206C; 5:6662871-6662871 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.556C>A; p.P186T; 5:6656173-6656173 |
ovary | other; neoplasm | Substitution - Missense |
c.483C>T; p.G161G; 5:6656100-6656100 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.243C>G; p.S81R; 5:6633819-6633819 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.348G>A; p.A116A; 5:6651896-6651896 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.323G>C; p.G108A; 5:6651871-6651871 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.655G>A; p.A219T; 5:6662908-6662908 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.309A>G; p.P103P; 5:6651857-6651857 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.613G>A; p.E205K; 5:6662866-6662866 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.229C>A; p.P77T; 5:6633805-6633805 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.448C>T; p.R150C; 5:6651996-6651996 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.359C>T; p.A120V; 5:6651907-6651907 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.90C>G; p.R30R; 5:6633666-6633666 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.90C>G; p.R30R; 5:6633666-6633666 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma | Substitution - coding silent |
c.90C>G; p.R30R; 5:6633666-6633666 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.189G>A; p.S63S; 5:6633765-6633765 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.758T>G; p.I253S; 5:6668246-6668246 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.758T>G; p.I253S; 5:6668246-6668246 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.489G>T; p.L163F; 5:6656106-6656106 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.641G>A; p.W214*; 5:6662894-6662894 |
breast | carcinoma | Substitution - Nonsense |
c.237C>T; p.L79L; 5:6633813-6633813 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.688T>C; p.S230P; 5:6662941-6662941 |
breast | carcinoma | Substitution - Missense |
c.674C>T; p.T225M; 5:6662927-6662927 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.674C>T; p.T225M; 5:6662927-6662927 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.724C>T; p.R242W; 5:6668212-6668212 |
liver | carcinoma | Substitution - Missense |
c.673A>G; p.T225A; 5:6662926-6662926 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.480G>A; p.T160T; 5:6656097-6656097 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.480G>A; p.T160T; 5:6656097-6656097 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.480G>A; p.T160T; 5:6656097-6656097 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |