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	1588
Symbol	CYP19A1
Synonymous	ARO\|ARO1\|CPV1\|CYAR\|CYP19\|CYPXIX\|P-450AROM
Full name	cytochrome P450, family 19, subfamily A, polypeptide 1
Gene description	aromatase\|cytochrome P-450AROM\|cytochrome P450 19A1\|cytochrome P450, subfamily XIX (aromatization of androgens)\|estrogen synthase\|estrogen synthetase\|flavoprotein-linked monooxygenase\|microsomal monooxygenase
Cytoband	15q21.1
Gene type	protein-coding
Synonymous	MIM:107910; HGNC:HGNC:2594; Ensembl:ENSG00000137869; HPRD:00488; Vega:OTTHUMG00000131747

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.1213G>A; p.E405K; 15:51212370-51212370	skin	malignant_melanoma	Substitution - Missense
c.1496G>T; p.R499M; 15:51210824-51210824	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1465G>A; p.E489K; 15:51210855-51210855	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.609C>T; p.F203F; 15:51222368-51222368	skin	malignant_melanoma	Substitution - coding silent
c.997A>T; p.I333L; 15:51215094-51215094	skin	malignant_melanoma	Substitution - Missense
c.1030G>C; p.D344H; 15:51212553-51212553	skin	malignant_melanoma	Substitution - Missense
c.1277A>G; p.Y426C; 15:51211043-51211043	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.102T>C; p.L34L; 15:51242811-51242811	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1123C>T; p.R375C; 15:51212460-51212460	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.673C>A; p.Q225K; 15:51218611-51218611	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.304A>G; p.S102G; 15:51227926-51227926	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.912G>A; p.L304L; 15:51215179-51215179	skin	malignant_melanoma	Substitution - coding silent
c.23C>T; p.P8L; 15:51242890-51242890	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.23C>T; p.P8L; 15:51242890-51242890	skin; arm	malignant_melanoma	Substitution - Missense
c.650T>C; p.I217T; 15:51218634-51218634	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1221C>T; p.F407F; 15:51212362-51212362	skin	malignant_melanoma	Substitution - coding silent
c.681C>T; p.L227L; 15:51218603-51218603	skin	malignant_melanoma	Substitution - coding silent
c.1253T>G; p.F418C; 15:51212330-51212330	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.3G>T; p.M1I; 15:51242910-51242910	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.702C>A; p.F234L; 15:51218582-51218582	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1129G>A; p.A377T; 15:51212454-51212454	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.744-5delT; p.?; 15:51215822-51215822	oesophagus; lower_third	carcinoma; adenocarcinoma	Unknown
c.594C>A; p.T198T; 15:51222383-51222383	prostate	carcinoma	Substitution - coding silent
c.262T>G; p.W88G; 15:51236893-51236893	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.331C>A; p.H111N; 15:51227899-51227899	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.331C>A; p.H111N; 15:51227899-51227899	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.331C>A; p.H111N; 15:51227899-51227899	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1157A>G; p.Y386C; 15:51212426-51212426	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.348C>T; p.F116F; 15:51227882-51227882	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.145G>T; p.G49C; 15:51242768-51242768	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.667G>A; p.A223T; 15:51218617-51218617	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.541G>A; p.E181K; 15:51222436-51222436	skin	malignant_melanoma	Substitution - Missense
c.708G>T; p.K236N; 15:51218576-51218576	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.277G>A; p.E93K; 15:51236878-51236878	skin	malignant_melanoma	Substitution - Missense
c.777A>T; p.I259I; 15:51215784-51215784	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.433C>T; p.R145*; 15:51227797-51227797	skin	malignant_melanoma	Substitution - Nonsense
c.433C>T; p.R145*; 15:51227797-51227797	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.882G>T; p.E294D; 15:51215209-51215209	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.615G>A; p.R205R; 15:51222362-51222362	skin	malignant_melanoma	Substitution - coding silent
c.1093C>T; p.R365W; 15:51212490-51212490	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1377C>A; p.H459Q; 15:51210943-51210943	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.995T>A; p.I332K; 15:51215096-51215096	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.91C>T; p.L31F; 15:51242822-51242822	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1511A>G; p.*504W; 15:51210809-51210809	endometrium	carcinoma; endometrioid_carcinoma	Nonstop extension
c.1426G>A; p.D476N; 15:51210894-51210894	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1290T>G; p.F430L; 15:51211030-51211030	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.625G>T; p.D209Y; 15:51222352-51222352	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.10G>A; p.E4K; 15:51242903-51242903	skin	malignant_melanoma	Substitution - Missense
c.10G>A; p.E4K; 15:51242903-51242903	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1346C>T; p.A449V; 15:51210974-51210974	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.545C>T; p.S182L; 15:51222432-51222432	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1483A>G; p.R495G; 15:51210837-51210837	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.420C>A; p.L140L; 15:51227810-51227810	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.54T>A; p.P18P; 15:51242859-51242859	skin; foot	malignant_melanoma; acral_lentiginous	Substitution - coding silent
c.862C>T; p.R288C; 15:51215229-51215229	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.599A>G; p.N200S; 15:51222378-51222378	skin	malignant_melanoma	Substitution - Missense
c.862C>T; p.R288C; 15:51215229-51215229	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.540T>A; p.N180K; 15:51222437-51222437	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1390C>T; p.Q464*; 15:51210930-51210930	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.22C>T; p.P8S; 15:51242891-51242891	skin; arm	malignant_melanoma	Substitution - Missense
c.1272T>C; p.Y424Y; 15:51211048-51211048	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.925G>A; p.D309N; 15:51215166-51215166	skin	malignant_melanoma	Substitution - Missense
c.1332G>A; p.M444I; 15:51210988-51210988	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.338G>T; p.S113I; 15:51227892-51227892	thyroid	carcinoma	Substitution - Missense
c.338G>T; p.S113I; 15:51227892-51227892	thyroid	carcinoma	Substitution - Missense
c.48C>T; p.I16I; 15:51242865-51242865	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1016T>C; p.V339A; 15:51215075-51215075	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1053A>G; p.Q351Q; 15:51212530-51212530	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.82G>A; p.V28I; 15:51242831-51242831	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.941C>T; p.S314F; 15:51215150-51215150	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.582C>T; p.V194V; 15:51222395-51222395	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.629-1G>T; p.?; 15:51218656-51218656	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.1003G>A; p.E335K; 15:51215088-51215088	skin	malignant_melanoma	Substitution - Missense
c.983_985delTTG; p.V328delV; 15:51215106-51215108	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - In frame
c.476G>A; p.R159H; 15:51222501-51222501	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1326C>T; p.I442I; 15:51210994-51210994	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.976C>T; p.P326S; 15:51215115-51215115	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.805G>A; p.E269K; 15:51215756-51215756	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.805G>A; p.E269K; 15:51215756-51215756	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1483A>T; p.R495*; 15:51210837-51210837	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.296+1G>A; p.?; 15:51236858-51236858	bone; pelvis	chondrosarcoma	Unknown
c.495T>C; p.A165A; 15:51222482-51222482	prostate	carcinoma	Substitution - coding silent
c.794G>A; p.R265K; 15:51215767-51215767	skin	malignant_melanoma	Substitution - Missense
c.1449G>A; p.E483E; 15:51210871-51210871	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1351C>A; p.L451I; 15:51210969-51210969	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.899T>C; p.I300T; 15:51215192-51215192	skin	malignant_melanoma	Substitution - Missense
c.899T>C; p.I300T; 15:51215192-51215192	skin	malignant_melanoma	Substitution - Missense
c.412C>T; p.P138S; 15:51227818-51227818	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1444G>T; p.D482Y; 15:51210876-51210876	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.379A>G; p.M127V; 15:51227851-51227851	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.877A>G; p.R293G; 15:51215214-51215214	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1369C>T; p.R457*; 15:51210951-51210951	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1369C>T; p.R457*; 15:51210951-51210951	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.795G>A; p.R265R; 15:51215766-51215766	skin	malignant_melanoma	Substitution - coding silent
c.1470G>A; p.M490I; 15:51210850-51210850	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.577C>T; p.R193C; 15:51222400-51222400	skin	malignant_melanoma	Substitution - Missense
c.1149C>T; p.I383I; 15:51212434-51212434	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1149C>T; p.I383I; 15:51212434-51212434	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.1484G>A; p.R495K; 15:51210836-51210836	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.787A>G; p.R263G; 15:51215774-51215774	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1055A>C; p.K352T; 15:51212528-51212528	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1448A>G; p.E483G; 15:51210872-51210872	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.810G>A; p.E270E; 15:51215751-51215751	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1465G>T; p.E489*; 15:51210855-51210855	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.639C>T; p.I213I; 15:51218645-51218645	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.639C>T; p.I213I; 15:51218645-51218645	skin	malignant_melanoma	Substitution - coding silent
c.1416G>C; p.Q472H; 15:51210904-51210904	ovary	other; neoplasm	Substitution - Missense
c.891C>A; p.N297K; 15:51215200-51215200	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.452-8C>T; p.?; 15:51222533-51222533	liver	carcinoma	Unknown
c.1370G>A; p.R457Q; 15:51210950-51210950	skin	malignant_melanoma	Substitution - Missense
c.1370G>A; p.R457Q; 15:51210950-51210950	skin	malignant_melanoma	Substitution - Missense
c.571C>T; p.L191L; 15:51222406-51222406	skin	malignant_melanoma	Substitution - coding silent
c.571C>T; p.L191L; 15:51222406-51222406	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1267C>T; p.P423S; 15:51211053-51211053	skin	malignant_melanoma	Substitution - Missense
c.1323C>T; p.Y441Y; 15:51210997-51210997	oesophagus	carcinoma	Substitution - coding silent
c.916G>A; p.A306T; 15:51215175-51215175	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.559G>A; p.V187M; 15:51222418-51222418	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1172G>A; p.G391E; 15:51212411-51212411	skin	malignant_melanoma	Substitution - Missense
c.1473C>T; p.I491I; 15:51210847-51210847	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.240A>G; p.V80V; 15:51236915-51236915	prostate	adenoma	Substitution - coding silent
c.240A>G; p.V80V; 15:51236915-51236915	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.60C>T; p.A20A; 15:51242853-51242853	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.904G>A; p.E302K; 15:51215187-51215187	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1266T>C; p.V422V; 15:51211054-51211054	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.94A>C; p.T32P; 15:51242819-51242819	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.915C>T; p.I305I; 15:51215176-51215176	skin	malignant_melanoma	Substitution - coding silent
c.1169A>G; p.K390R; 15:51212414-51212414	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1417A>T; p.K473*; 15:51210903-51210903	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.63G>A; p.M21I; 15:51242850-51242850	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1169A>G; p.K390R; 15:51212414-51212414	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1069G>A; p.E357K; 15:51212514-51212514	skin	malignant_melanoma	Substitution - Missense
c.574C>T; p.R192C; 15:51222403-51222403	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.859-1G>A; p.?; 15:51215233-51215233	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.748G>A; p.D250N; 15:51215813-51215813	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.257G>A; p.R86Q; 15:51236898-51236898	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1496G>A; p.R499K; 15:51210824-51210824	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1240A>G; p.T414A; 15:51212343-51212343	skin	malignant_melanoma	Substitution - Missense
c.561G>C; p.V187V; 15:51222416-51222416	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.305G>C; p.S102T; 15:51227925-51227925	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.805G>T; p.E269*; 15:51215756-51215756	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.24G>A; p.P8P; 15:51242889-51242889	skin	malignant_melanoma	Substitution - coding silent
c.813A>G; p.K271K; 15:51215748-51215748	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.558C>T; p.D186D; 15:51222419-51222419	stomach	carcinoma; adenocarcinoma	Substitution - coding silent

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation