Entrez Gene

Basic Information
Gene ID	1583
Name	CYP11A1
Synonymous	cytochrome P450, family 11, subfamily A, polypeptide 1;CYP11A1;cytochrome P450, family 11, subfamily A, polypeptide 1
Definition	cholesterol 20-22 desmolase\|cholesterol monooxygenase (side-chain cleaving)\|cholesterol side-chain cleavage enzyme, mitochondrial\|cytochrome P450 11A1\|cytochrome P450(scc)\|cytochrome P450, subfamily XIA (cholesterol side chain cleavage)\|cytochrome P450C11
Position	15q23-q24
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.1213C>T; p.R405*; 15:74339260-74339260	pancreas	carcinoma	Substitution - Nonsense
c.307G>A; p.D103N; 15:74348018-74348018	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.75G>A; p.E25E; 15:74367511-74367511	skin	malignant_melanoma	Substitution - coding silent
c.796C>A; p.H266N; 15:74343822-74343822	soft_tissue; striated_muscle	rhabdomyosarcoma; embryonal	Substitution - Missense
c.1536G>T; p.W512C; 15:74338002-74338002	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.858G>T; p.W286C; 15:74343109-74343109	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1237-3C>T; p.?; 15:74338771-74338771	kidney	other; neoplasm	Unknown
c.722T>C; p.F241S; 15:74343896-74343896	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1290C>T; p.F430F; 15:74338715-74338715	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.1228C>T; p.P410S; 15:74339245-74339245	skin	malignant_melanoma	Substitution - Missense
c.1352G>A; p.R451Q; 15:74338653-74338653	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.126C>T; p.T42T; 15:74367460-74367460	skin	malignant_melanoma	Substitution - coding silent
c.1351C>T; p.R451W; 15:74338654-74338654	skin	malignant_melanoma	Substitution - Missense
c.682C>T; p.P228S; 15:74343936-74343936	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1393C>T; p.R465W; 15:74338612-74338612	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.366C>T; p.L122L; 15:74347959-74347959	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1164C>A; p.H388Q; 15:74339309-74339309	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.995C>T; p.S332F; 15:74339749-74339749	skin	malignant_melanoma	Substitution - Missense
c.128G>A; p.R43H; 15:74367458-74367458	pancreas	carcinoma	Substitution - Missense
c.863T>C; p.L288S; 15:74343104-74343104	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.319G>A; p.V107M; 15:74348006-74348006	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.73G>A; p.E25K; 15:74367513-74367513	skin	malignant_melanoma	Substitution - Missense
c.1523C>T; p.S508F; 15:74338015-74338015	skin	malignant_melanoma	Substitution - Missense
c.102T>C; p.T34T; 15:74367484-74367484	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.207G>A; p.T69T; 15:74367379-74367379	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.637G>A; p.V213I; 15:74343981-74343981	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.637G>A; p.V213I; 15:74343981-74343981	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1449C>A; p.F483L; 15:74338089-74338089	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.637G>A; p.V213I; 15:74343981-74343981	skin	malignant_melanoma	Substitution - Missense
c.637G>A; p.V213I; 15:74343981-74343981	skin	malignant_melanoma	Substitution - Missense
c.1105_1106insA; p.T369fs*33; 15:74339638-74339639	autonomic_ganglia	neuroblastoma	Insertion - Frameshift
c.691C>T; p.Q231*; 15:74343927-74343927	skin	malignant_melanoma	Substitution - Nonsense
c.8C>G; p.A3G; 15:74367578-74367578	thyroid	carcinoma	Substitution - Missense
c.247C>T; p.Q83*; 15:74367339-74367339	liver	carcinoma	Substitution - Nonsense
c.483_486delAGAG; p.E162fs*63; 15:74345183-74345186	large_intestine; rectum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.294G>C; p.S98S; 15:74348031-74348031	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.69delC; p.R24fs*37; 15:74367517-74367517	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.940G>A; p.E314K; 15:74343027-74343027	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.940G>A; p.E314K; 15:74343027-74343027	skin	malignant_melanoma	Substitution - Missense
c.1451G>A; p.R484K; 15:74338087-74338087	liver	carcinoma	Substitution - Missense
c.1451G>A; p.R484K; 15:74338087-74338087	liver	carcinoma	Substitution - Missense
c.1456G>A; p.E486K; 15:74338082-74338082	skin	malignant_melanoma	Substitution - Missense
c.707C>T; p.A236V; 15:74343911-74343911	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.846G>T; p.Q282H; 15:74343121-74343121	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.448G>T; p.D150Y; 15:74345221-74345221	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1146G>T; p.K382N; 15:74339598-74339598	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.82G>A; p.G28R; 15:74367504-74367504	pancreas	carcinoma	Substitution - Missense
c.964G>T; p.E322*; 15:74343003-74343003	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1401C>T; p.I467I; 15:74338604-74338604	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.899G>T; p.G300V; 15:74343068-74343068	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1089C>T; p.A363A; 15:74339655-74339655	skin	malignant_melanoma	Substitution - coding silent
c.611G>A; p.R204H; 15:74345058-74345058	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1341C>T; p.I447I; 15:74338664-74338664	breast	carcinoma	Substitution - coding silent
c.1420A>G; p.I474V; 15:74338585-74338585	lung	carcinoid-endocrine_tumour; typical	Substitution - Missense
c.958G>A; p.V320I; 15:74343009-74343009	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.72G>A; p.R24R; 15:74367514-74367514	skin	malignant_melanoma	Substitution - coding silent
c.438C>A; p.A146A; 15:74345231-74345231	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.553C>T; p.R185C; 15:74345116-74345116	urinary_tract; bladder	carcinoma	Substitution - Missense
c.572C>T; p.S191F; 15:74345097-74345097	skin; mucosal	malignant_melanoma	Substitution - Missense
c.1316G>T; p.R439L; 15:74338689-74338689	breast	carcinoma	Substitution - Missense
c.738C>T; p.P246P; 15:74343880-74343880	skin	malignant_melanoma	Substitution - coding silent
c.875G>A; p.G292E; 15:74343092-74343092	skin	malignant_melanoma	Substitution - Missense
c.1497C>T; p.L499L; 15:74338041-74338041	skin	malignant_melanoma	Substitution - coding silent
c.1497C>T; p.L499L; 15:74338041-74338041	skin	malignant_melanoma	Substitution - coding silent
c.636C>T; p.N212N; 15:74343982-74343982	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.814G>T; p.V272L; 15:74343804-74343804	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.814G>T; p.V272L; 15:74343804-74343804	pancreas	pancreatic_intraepithelial_neoplasia_(PanIN)	Substitution - Missense
c.1028C>T; p.A343V; 15:74339716-74339716	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.322G>C; p.A108P; 15:74348003-74348003	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1110G>A; p.M370I; 15:74339634-74339634	pancreas	carcinoma	Substitution - Missense
c.1425C>T; p.F475F; 15:74338580-74338580	skin	malignant_melanoma	Substitution - coding silent
c.829+1G>A; p.?; 15:74343788-74343788	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.765C>T; p.F255F; 15:74343853-74343853	skin	malignant_melanoma	Substitution - coding silent
c.1170C>A; p.I390I; 15:74339303-74339303	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1518C>A; p.P506P; 15:74338020-74338020	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.330C>T; p.L110L; 15:74347995-74347995	skin	malignant_melanoma	Substitution - coding silent
c.537C>A; p.V179V; 15:74345132-74345132	thyroid	other; neoplasm	Substitution - coding silent
c.1378C>T; p.R460W; 15:74338627-74338627	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.506C>T; p.P169L; 15:74345163-74345163	skin	malignant_melanoma	Substitution - Missense
c.137G>A; p.R46H; 15:74367449-74367449	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.889G>A; p.D297N; 15:74343078-74343078	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1173C>T; p.S391S; 15:74339300-74339300	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.814G>A; p.V272M; 15:74343804-74343804	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.814G>A; p.V272M; 15:74343804-74343804	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.495G>T; p.K165N; 15:74345174-74345174	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1506G>C; p.M502I; 15:74338032-74338032	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.182A>C; p.N61T; 15:74367404-74367404	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1538C>T; p.P513L; 15:74338000-74338000	thyroid	carcinoma	Substitution - Missense
c.586G>A; p.G196R; 15:74345083-74345083	skin	malignant_melanoma	Substitution - Missense
c.306C>T; p.I102I; 15:74348019-74348019	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1146G>A; p.K382K; 15:74339598-74339598	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1076C>T; p.A359V; 15:74339668-74339668	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.798T>C; p.H266H; 15:74343820-74343820	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.955A>C; p.N319H; 15:74343012-74343012	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1411G>C; p.E471Q; 15:74338594-74338594	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.554G>A; p.R185H; 15:74345115-74345115	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.803C>T; p.A268V; 15:74343815-74343815	prostate	carcinoma	Substitution - Missense
c.554G>A; p.R185H; 15:74345115-74345115	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.363C>T; p.F121F; 15:74347962-74347962	skin	malignant_melanoma	Substitution - coding silent
c.384C>A; p.A128A; 15:74347941-74347941	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1206G>T; p.L402F; 15:74339267-74339267	skin; mucosal	malignant_melanoma	Substitution - Missense
c.1402G>A; p.A468T; 15:74338603-74338603	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.325C>A; p.L109I; 15:74348000-74348000	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.489C>A; p.A163A; 15:74345180-74345180	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.201G>A; p.R67R; 15:74367385-74367385	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.338C>A; p.S113Y; 15:74347987-74347987	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.544C>A; p.L182M; 15:74345125-74345125	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.974C>T; p.A325V; 15:74342993-74342993	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1527C>T; p.F509F; 15:74338011-74338011	skin	malignant_melanoma	Substitution - coding silent
c.1533C>T; p.F511F; 15:74338005-74338005	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.830-6C>T; p.?; 15:74343143-74343143	skin; trunk	malignant_melanoma; nodular	Unknown
c.566C>T; p.A189V; 15:74345103-74345103	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.246C>T; p.F82F; 15:74367340-74367340	skin	malignant_melanoma	Substitution - coding silent
c.793G>A; p.D265N; 15:74343825-74343825	skin	malignant_melanoma	Substitution - Missense
c.793G>A; p.D265N; 15:74343825-74343825	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.566C>T; p.A189V; 15:74345103-74345103	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1240C>A; p.L414M; 15:74338765-74338765	ovary	other; neoplasm	Substitution - Missense
c.1240C>A; p.L414M; 15:74338765-74338765	ovary	other; neoplasm	Substitution - Missense
c.695G>A; p.R232Q; 15:74343923-74343923	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.257G>A; p.G86D; 15:74367329-74367329	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.257G>A; p.G86D; 15:74367329-74367329	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.894C>T; p.Y298Y; 15:74343073-74343073	skin	malignant_melanoma	Substitution - coding silent
c.535G>A; p.V179I; 15:74345134-74345134	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1396C>T; p.R466W; 15:74338609-74338609	central_nervous_system; brain	glioma	Substitution - Missense
c.419T>A; p.L140Q; 15:74347906-74347906	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.1163A>G; p.H388R; 15:74339310-74339310	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1235A>C; p.K412T; 15:74339238-74339238	skin	malignant_melanoma	Substitution - Missense
c.92G>A; p.R31K; 15:74367494-74367494	skin	malignant_melanoma	Substitution - Missense
c.1469T>A; p.L490H; 15:74338069-74338069	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.920G>A; p.G307E; 15:74343047-74343047	skin	malignant_melanoma	Substitution - Missense

COSMIC somatic mutation [Top]