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	1545
Symbol	CYP1B1
Synonymous	CP1B\|CYPIB1\|GLC3A\|P4501B1
Full name	cytochrome P450, family 1, subfamily B, polypeptide 1
Gene description	aryl hydrocarbon hydroxylase\|cytochrome P450 1B1\|cytochrome P450, subfamily I (dioxin-inducible), polypeptide 1 (glaucoma 3, primary infantile)\|flavoprotein-linked monooxygenase\|microsomal monooxygenase\|xenobiotic monooxygenase
Cytoband	2p22.2
Gene type	protein-coding
Synonymous	MIM:601771; HGNC:HGNC:2597; Ensembl:ENSG00000138061; HPRD:03464; Vega:OTTHUMG00000100970

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.1012G>A; p.A338T; 2:38074377-38074377	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.987C>T; p.G329G; 2:38074402-38074402	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1102C>T; p.R368C; 2:38071252-38071252	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1290C>G; p.D430E; 2:38071064-38071064	breast	carcinoma	Substitution - Missense
c.870C>T; p.R290R; 2:38074519-38074519	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - coding silent
c.84G>A; p.S28S; 2:38075305-38075305	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1347T>C; p.D449D; 2:38071007-38071007	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.158G>A; p.G53D; 2:38075231-38075231	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.437G>A; p.R146H; 2:38074952-38074952	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.158G>A; p.G53D; 2:38075231-38075231	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1564C>G; p.L522V; 2:38070790-38070790	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.630C>T; p.F210F; 2:38074759-38074759	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.769G>A; p.V257I; 2:38074620-38074620	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1559T>C; p.V520A; 2:38070795-38070795	skin	malignant_melanoma	Substitution - Missense
c.868_869insC; p.R290fs*37; 2:38074520-38074521	large_intestine; caecum	carcinoma; adenocarcinoma	Insertion - Frameshift
c.868_869insC; p.R290fs*37; 2:38074520-38074521	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1462G>T; p.A488S; 2:38070892-38070892	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1462G>T; p.A488S; 2:38070892-38070892	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1462G>T; p.A488S; 2:38070892-38070892	large_intestine; colon	carcinoma	Substitution - Missense
c.1462G>T; p.A488S; 2:38070892-38070892	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.488G>A; p.R163H; 2:38074901-38074901	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.488G>A; p.R163H; 2:38074901-38074901	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.886T>G; p.F296V; 2:38074503-38074503	skin	malignant_melanoma	Substitution - Missense
c.1378G>T; p.V460L; 2:38070976-38070976	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1489C>G; p.P497A; 2:38070865-38070865	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis	Substitution - Missense
c.1090G>A; p.V364M; 2:38071264-38071264	skin	malignant_melanoma	Substitution - Missense
c.917G>A; p.G306E; 2:38074472-38074472	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1585C>A; p.L529I; 2:38070769-38070769	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.753_754insC; p.N252fs*75; 2:38074635-38074636	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.182G>A; p.G61E; 2:38075207-38075207	thyroid	other; neoplasm	Substitution - Missense
c.1417G>A; p.E473K; 2:38070937-38070937	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1417G>A; p.E473K; 2:38070937-38070937	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.632G>A; p.G211D; 2:38074757-38074757	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.711G>A; p.A237A; 2:38074678-38074678	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.162G>A; p.P54P; 2:38075227-38075227	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1197_1198ins10; p.T404fs*30; 2:38071156-38071157	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Insertion - Frameshift
c.857G>A; p.G286E; 2:38074532-38074532	skin	malignant_melanoma	Substitution - Missense
c.243C>T; p.Y81Y; 2:38075146-38075146	ovary	other; neoplasm	Substitution - coding silent
c.217T>C; p.S73P; 2:38075172-38075172	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1311G>A; p.P437P; 2:38071043-38071043	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.833G>T; p.R278M; 2:38074556-38074556	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.867_868insC; p.R290fs*37; 2:38074521-38074522	large_intestine; caecum	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1099G>T; p.D367Y; 2:38071255-38071255	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1444C>G; p.L482V; 2:38070910-38070910	breast	carcinoma	Substitution - Missense
c.238C>T; p.R80C; 2:38075151-38075151	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1474G>A; p.D492N; 2:38070880-38070880	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.355G>T; p.A119S; 2:38075034-38075034	thyroid	other; neoplasm	Substitution - Missense
c.1405C>T; p.R469W; 2:38070949-38070949	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.355G>T; p.A119S; 2:38075034-38075034	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.355G>T; p.A119S; 2:38075034-38075034	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.841G>A; p.E281K; 2:38074548-38074548	pancreas	carcinoma	Substitution - Missense
c.192G>A; p.A64A; 2:38075197-38075197	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.218C>T; p.S73L; 2:38075171-38075171	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.976G>A; p.D326N; 2:38074413-38074413	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.11G>A; p.S4N; 2:38075378-38075378	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - Missense
c.776G>A; p.R259H; 2:38074613-38074613	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.776G>A; p.R259H; 2:38074613-38074613	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.776G>A; p.R259H; 2:38074613-38074613	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.776G>A; p.R259H; 2:38074613-38074613	large_intestine; colon	carcinoma	Substitution - Missense
c.776G>A; p.R259H; 2:38074613-38074613	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1577T>C; p.M526T; 2:38070777-38070777	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.91G>C; p.A31P; 2:38075298-38075298	meninges	meningioma	Substitution - Missense
c.707G>A; p.G236D; 2:38074682-38074682	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.873C>T; p.D291D; 2:38074516-38074516	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.1544C>A; p.S515*; 2:38070810-38070810	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.959T>C; p.V320A; 2:38074430-38074430	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.175C>G; p.L59V; 2:38075214-38075214	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.709G>A; p.A237T; 2:38074680-38074680	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.709G>A; p.A237T; 2:38074680-38074680	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.205delG; p.A69fs*26; 2:38075184-38075184	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.693C>T; p.F231F; 2:38074696-38074696	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.693C>T; p.F231F; 2:38074696-38074696	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.865C>T; p.P289S; 2:38074524-38074524	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.187G>A; p.A63T; 2:38075202-38075202	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1358A>G; p.N453S; 2:38070996-38070996	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1358A>G; p.N453S; 2:38070996-38070996	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1358A>G; p.N453S; 2:38070996-38070996	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.242A>G; p.Y81C; 2:38075147-38075147	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1461G>A; p.L487L; 2:38070893-38070893	skin	malignant_melanoma	Substitution - coding silent
c.579G>A; p.P193P; 2:38074810-38074810	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1420G>T; p.E474*; 2:38070934-38070934	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1420G>T; p.E474*; 2:38070934-38070934	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1420G>T; p.E474*; 2:38070934-38070934	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.923C>T; p.S308L; 2:38074466-38074466	urinary_tract; bladder	carcinoma	Substitution - Missense
c.962C>A; p.P321Q; 2:38074427-38074427	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.962C>A; p.P321Q; 2:38074427-38074427	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.962C>A; p.P321Q; 2:38074427-38074427	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1359C>G; p.N453K; 2:38070995-38070995	ovary	carcinoma; serous_carcinoma	Substitution - Missense

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation