lung cancer gene and literature database Home

Annotation category 5

Basic annotation
Ontology and pathways
Literature evidence
Curated literatures
Expression
Gene expression chart
Somatic mutation
COSMIC and TCGA mutations
Network
Gene interaction
ceRNA
Gene-related ceRNA

Gene information

Gene ID	1586
Symbol	CYP17A1
Synonymous	CPT7\|CYP17\|P450C17\|S17AH
Full name	cytochrome P450, family 17, subfamily A, polypeptide 1
Gene description	17-alpha-hydroxyprogesterone aldolase\|CYPXVII\|cytochrome P450 17A1\|cytochrome P450, subfamily XVII (steroid 17-alpha-hydroxylase), adrenal hyperplasia\|cytochrome P450-C17\|cytochrome P450c17\|cytochrome p450 XVIIA1\|steroid 17-alpha-hydroxylase/17,20 lyase\|s
Cytoband	10q24.3
Gene type	protein-coding
Synonymous	MIM:609300; HGNC:HGNC:2593; Ensembl:ENSG00000148795; HPRD:01944; Vega:OTTHUMG00000018969

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.1100C>T; p.A367V; 10:102832550-102832550	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.384G>A; p.A128A; 10:102835306-102835306	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.384G>A; p.A128A; 10:102835306-102835306	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1083T>A; p.L361L; 10:102832567-102832567	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1083T>A; p.L361L; 10:102832567-102832567	upper_aerodigestive_tract; mouth	carcinoma	Substitution - coding silent
c.199C>T; p.R67C; 10:102837163-102837163	skin	malignant_melanoma	Substitution - Missense
c.358C>T; p.H120Y; 10:102835332-102835332	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1194G>A; p.A398A; 10:102831557-102831557	autonomic_ganglia	neuroblastoma	Substitution - coding silent
c.1140-1G>A; p.?; 10:102831612-102831612	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.1486C>T; p.R496C; 10:102830743-102830743	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1486C>T; p.R496C; 10:102830743-102830743	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.86A>T; p.K29M; 10:102837276-102837276	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.40T>C; p.Y14H; 10:102837322-102837322	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1369G>A; p.A457T; 10:102830860-102830860	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.673C>T; p.P225S; 10:102834116-102834116	skin	malignant_melanoma	Substitution - Missense
c.286C>T; p.R96W; 10:102837076-102837076	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; essential_thrombocythaemia	Substitution - Missense
c.492C>T; p.S164S; 10:102834959-102834959	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.257T>C; p.L86P; 10:102837105-102837105	skin; mucosal	malignant_melanoma	Substitution - Missense
c.117delC; p.L40fs*35; 10:102837245-102837245	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Deletion - Frameshift
c.61A>T; p.R21W; 10:102837301-102837301	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.312C>T; p.I104I; 10:102835378-102835378	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.897C>A; p.I299I; 10:102833065-102833065	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.340T>C; p.F114L; 10:102835350-102835350	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.387G>T; p.M129I; 10:102835303-102835303	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1501G>A; p.E501K; 10:102830728-102830728	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.51G>T; p.W17C; 10:102837311-102837311	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1463C>A; p.S488Y; 10:102830766-102830766	breast	carcinoma	Substitution - Missense
c.1218G>A; p.W406*; 10:102831533-102831533	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.462T>C; p.C154C; 10:102834989-102834989	upper_aerodigestive_tract; pharynx	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1476G>C; p.K492N; 10:102830753-102830753	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.236A>C; p.H79P; 10:102837126-102837126	breast	carcinoma	Substitution - Missense
c.1319G>A; p.R440H; 10:102830910-102830910	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.890_891GG>AA; p.G297E; 10:102833071-102833072	skin	malignant_melanoma	Substitution - Missense
c.273G>A; p.K91K; 10:102837089-102837089	skin	malignant_melanoma	Substitution - coding silent
c.273G>A; p.K91K; 10:102837089-102837089	skin	malignant_melanoma	Substitution - coding silent
c.455C>T; p.T152I; 10:102834996-102834996	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1210_1212delAAG; p.K404delK; 10:102831539-102831541	adrenal_gland; adrenal_gland	adrenal_cortical_carcinoma; functioning	Deletion - In frame
c.1129G>A; p.V377I; 10:102832521-102832521	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.617T>C; p.I206T; 10:102834834-102834834	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1143C>T; p.I381I; 10:102831608-102831608	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1389C>T; p.F463F; 10:102830840-102830840	skin	malignant_melanoma	Substitution - coding silent
c.1032C>T; p.I344I; 10:102832618-102832618	breast	carcinoma	Substitution - coding silent
c.667-1G>T; p.?; 10:102834123-102834123	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.350C>T; p.S117F; 10:102835340-102835340	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.93C>T; p.L31L; 10:102837269-102837269	skin	malignant_melanoma	Substitution - coding silent
c.2T>C; p.M1T; 10:102837360-102837360	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.753+2T>C; p.?; 10:102834034-102834034	lung	carcinoma; adenocarcinoma	Unknown
c.80A>C; p.Y27S; 10:102837282-102837282	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.80A>C; p.Y27S; 10:102837282-102837282	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.80A>C; p.Y27S; 10:102837282-102837282	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.177delA; p.K59fs*16; 10:102837185-102837185	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.80A>C; p.Y27S; 10:102837282-102837282	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.177delA; p.K59fs*16; 10:102837185-102837185	ovary	carcinoma; serous_carcinoma	Deletion - Frameshift
c.1387T>C; p.F463L; 10:102830842-102830842	pancreas	carcinoma	Substitution - Missense
c.80A>C; p.Y27S; 10:102837282-102837282	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.177delA; p.K59fs*16; 10:102837185-102837185	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.80A>C; p.Y27S; 10:102837282-102837282	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.250G>A; p.E84K; 10:102837112-102837112	skin	malignant_melanoma	Substitution - Missense
c.1384A>T; p.R462W; 10:102830845-102830845	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.943C>A; p.L315M; 10:102833019-102833019	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.496G>A; p.D166N; 10:102834955-102834955	skin	malignant_melanoma	Substitution - Missense
c.790G>A; p.D264N; 10:102833172-102833172	skin	malignant_melanoma	Substitution - Missense
c.496G>A; p.D166N; 10:102834955-102834955	skin	malignant_melanoma	Substitution - Missense
c.374G>A; p.R125Q; 10:102835316-102835316	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.57G>A; p.K19K; 10:102837305-102837305	skin	malignant_melanoma	Substitution - coding silent
c.1305C>T; p.F435F; 10:102830924-102830924	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1459G>A; p.D487N; 10:102830770-102830770	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.380T>C; p.L127P; 10:102835310-102835310	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.20T>C; p.L7P; 10:102837342-102837342	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.435C>T; p.I145I; 10:102835255-102835255	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.468G>T; p.M156I; 10:102834983-102834983	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.151A>G; p.N51D; 10:102837211-102837211	breast	carcinoma	Substitution - Missense
c.1345C>T; p.R449C; 10:102830884-102830884	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1040G>A; p.R347H; 10:102832610-102832610	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1016G>C; p.S339T; 10:102832634-102832634	kidney	other; neoplasm	Substitution - Missense
c.1001A>G; p.Q334R; 10:102832649-102832649	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.138C>T; p.H46H; 10:102837224-102837224	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.138C>T; p.H46H; 10:102837224-102837224	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.138C>T; p.H46H; 10:102837224-102837224	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.991G>A; p.E331K; 10:102832659-102832659	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.246C>A; p.A82A; 10:102837116-102837116	thyroid	carcinoma	Substitution - coding silent
c.1525T>A; p.*509K; 10:102830704-102830704	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Nonstop extension
c.1525T>A; p.*509K; 10:102830704-102830704	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Nonstop extension
c.1525T>A; p.*509K; 10:102830704-102830704	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Nonstop extension
c.667-5C>G; p.?; 10:102834127-102834127	liver	carcinoma	Unknown
c.999C>A; p.D333E; 10:102832651-102832651	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1351G>A; p.E451K; 10:102830878-102830878	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.264G>A; p.K88K; 10:102837098-102837098	skin	malignant_melanoma	Substitution - coding silent
c.194C>T; p.S65L; 10:102837168-102837168	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.95T>A; p.L32Q; 10:102837267-102837267	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.195G>T; p.S65S; 10:102837167-102837167	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.952C>T; p.L318L; 10:102833010-102833010	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.195G>T; p.S65S; 10:102837167-102837167	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.195G>T; p.S65S; 10:102837167-102837167	thyroid	other; neoplasm	Substitution - coding silent
c.195G>T; p.S65S; 10:102837167-102837167	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.195G>T; p.S65S; 10:102837167-102837167	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.601T>C; p.Y201H; 10:102834850-102834850	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.445G>A; p.E149K; 10:102835006-102835006	skin	malignant_melanoma	Substitution - Missense
c.445G>A; p.E149K; 10:102835006-102835006	skin	malignant_melanoma	Substitution - Missense
c.988G>A; p.E330K; 10:102832662-102832662	skin	malignant_melanoma	Substitution - Missense
c.473C>A; p.A158D; 10:102834978-102834978	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.251A>T; p.E84V; 10:102837111-102837111	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1186C>T; p.L396L; 10:102831565-102831565	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.326G>A; p.R109H; 10:102835364-102835364	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.764G>T; p.R255L; 10:102833198-102833198	prostate	adenoma	Substitution - Missense
c.909C>T; p.G303G; 10:102833053-102833053	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.909C>T; p.G303G; 10:102833053-102833053	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.111G>T; p.V37V; 10:102837251-102837251	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation