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	125
Symbol	ADH1B
Synonymous	ADH2\|HEL-S-117
Full name	alcohol dehydrogenase 1B (class I), beta polypeptide
Gene description	ADH, beta subunit\|alcohol dehydrogenase 1B\|alcohol dehydrogenase 2 (class I), beta polypeptide\|alcohol dehydrogenase subunit beta\|aldehyde reductase\|epididymis secretory protein Li 117
Cytoband	4q23
Gene type	protein-coding
Synonymous	MIM:103720; HGNC:HGNC:250; Ensembl:ENSG00000196616; HPRD:00065

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.836C>T; p.S279F; 4:99311649-99311649	skin	malignant_melanoma	Substitution - Missense
c.769G>A; p.E257K; 4:99313880-99313880	skin	malignant_melanoma	Substitution - Missense
c.769G>A; p.E257K; 4:99313880-99313880	skin	malignant_melanoma	Substitution - Missense
c.769G>A; p.E257K; 4:99313880-99313880	skin	malignant_melanoma	Substitution - Missense
c.769G>A; p.E257K; 4:99313880-99313880	skin	malignant_melanoma	Substitution - Missense
c.578G>A; p.G193D; 4:99314071-99314071	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.120+1G>A; p.?; 4:99318784-99318784	liver	carcinoma	Unknown
c.120+1G>A; p.?; 4:99318784-99318784	liver	carcinoma	Unknown
c.631G>A; p.G211S; 4:99314018-99314018	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.728A>G; p.N243S; 4:99313921-99313921	skin	malignant_melanoma	Substitution - Missense
c.1107C>A; p.I369I; 4:99307861-99307861	skin	malignant_melanoma	Substitution - coding silent
c.75G>T; p.E25D; 4:99318830-99318830	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.259G>A; p.G87S; 4:99318046-99318046	prostate	carcinoma	Substitution - Missense
c.1026A>G; p.S342S; 4:99310842-99310842	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.554T>C; p.V185A; 4:99315911-99315911	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.876C>T; p.I292I; 4:99311609-99311609	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.938G>A; p.R313H; 4:99311547-99311547	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1101A>G; p.K367K; 4:99310767-99310767	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - coding silent
c.501G>A; p.L167L; 4:99315964-99315964	skin	malignant_melanoma	Substitution - coding silent
c.1127G>C; p.*376S; 4:99307841-99307841	lung	carcinoma; adenocarcinoma	Nonstop extension
c.205G>A; p.E69K; 4:99318100-99318100	skin	malignant_melanoma	Substitution - Missense
c.871G>A; p.V291I; 4:99311614-99311614	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.373C>A; p.Q125K; 4:99316092-99316092	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.733C>G; p.Q245E; 4:99313916-99313916	urinary_tract; bladder	carcinoma	Substitution - Missense
c.581C>T; p.S194F; 4:99314068-99314068	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.232G>A; p.G78R; 4:99318073-99318073	skin	malignant_melanoma	Substitution - Missense
c.1003G>A; p.D335N; 4:99310865-99310865	skin	malignant_melanoma	Substitution - Missense
c.502G>A; p.E168K; 4:99315963-99315963	skin	malignant_melanoma	Substitution - Missense
c.892G>C; p.A298P; 4:99311593-99311593	liver	carcinoma	Substitution - Missense
c.832G>A; p.A278T; 4:99311653-99311653	skin; face	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1103G>A; p.S368N; 4:99310765-99310765	skin	malignant_melanoma	Substitution - Missense
c.972G>A; p.K324K; 4:99310896-99310896	skin	malignant_melanoma	Substitution - coding silent
c.835T>C; p.S279P; 4:99311650-99311650	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.600C>A; p.G200G; 4:99314049-99314049	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.114C>G; p.R38R; 4:99318791-99318791	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.582T>C; p.S194S; 4:99314067-99314067	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.442T>C; p.S148P; 4:99316023-99316023	liver	carcinoma	Substitution - Missense
c.387G>A; p.R129R; 4:99316078-99316078	skin	malignant_melanoma	Substitution - coding silent
c.267delA; p.V90fs*24; 4:99316295-99316295	liver	carcinoma	Deletion - Frameshift
c.184delC; p.L62fs*3; 4:99318121-99318121	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.213C>T; p.A71A; 4:99318092-99318092	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - coding silent
c.213C>T; p.A71A; 4:99318092-99318092	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.169A>T; p.N57Y; 4:99318136-99318136	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.789G>A; p.V263V; 4:99313860-99313860	skin	malignant_melanoma	Substitution - coding silent
c.364G>A; p.G122R; 4:99316101-99316101	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.274C>T; p.P92S; 4:99316288-99316288	skin	malignant_melanoma	Substitution - Missense
c.250G>T; p.V84F; 4:99318055-99318055	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.568-2A>T; p.?; 4:99314083-99314083	lung; right_lower_lobe	carcinoma; adenocarcinoma	Unknown
c.568-2A>T; p.?; 4:99314083-99314083	lung; right_upper_lobe	carcinoma; adenocarcinoma	Unknown
c.914A>G; p.N305S; 4:99311571-99311571	skin	malignant_melanoma	Substitution - Missense
c.438C>T; p.T146T; 4:99316027-99316027	skin	malignant_melanoma	Substitution - coding silent
c.138C>T; p.I46I; 4:99318167-99318167	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.718G>A; p.E240K; 4:99313931-99313931	urinary_tract; bladder	carcinoma	Substitution - Missense
c.559G>A; p.V187I; 4:99315906-99315906	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.559G>A; p.V187I; 4:99315906-99315906	thyroid	other; neoplasm	Substitution - Missense
c.10G>A; p.A4T; 4:99321322-99321322	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.975T>G; p.S325R; 4:99310893-99310893	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.143A>G; p.H48R; 4:99318162-99318162	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.423C>T; p.F141F; 4:99316042-99316042	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.423C>T; p.F141F; 4:99316042-99316042	skin	malignant_melanoma	Substitution - coding silent
c.703G>A; p.E235K; 4:99313946-99313946	skin	malignant_melanoma	Substitution - Missense
c.276G>T; p.P92P; 4:99316286-99316286	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.1097G>A; p.G366E; 4:99310771-99310771	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.608G>A; p.G203E; 4:99314041-99314041	skin	malignant_melanoma	Substitution - Missense
c.343A>C; p.N115H; 4:99316219-99316219	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1112C>A; p.T371N; 4:99307856-99307856	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour	Substitution - Missense
c.607G>A; p.G203R; 4:99314042-99314042	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.838C>T; p.L280L; 4:99311647-99311647	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.371T>C; p.L124P; 4:99316094-99316094	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.607G>A; p.G203R; 4:99314042-99314042	central_nervous_system; brain	glioma	Substitution - Missense
c.1122G>A; p.T374T; 4:99307846-99307846	ovary	other; neoplasm	Substitution - coding silent
c.187C>T; p.P63S; 4:99318118-99318118	skin	malignant_melanoma	Substitution - Missense
c.187C>T; p.P63S; 4:99318118-99318118	skin	malignant_melanoma	Substitution - Missense
c.187C>T; p.P63S; 4:99318118-99318118	skin; upper_leg	malignant_melanoma	Substitution - Missense
c.864C>A; p.G288G; 4:99311621-99311621	breast	carcinoma	Substitution - coding silent
c.620_626delCTGCTGT; p.S207fs*47; 4:99314023-99314029	liver	carcinoma	Deletion - Frameshift
c.262G>C; p.D88H; 4:99316300-99316300	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.797C>T; p.S266L; 4:99313852-99313852	skin	malignant_melanoma	Substitution - Missense
c.797C>T; p.S266L; 4:99313852-99313852	skin; head_neck	malignant_melanoma; superficial_spreading	Substitution - Missense
c.797C>T; p.S266L; 4:99313852-99313852	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.797C>T; p.S266L; 4:99313852-99313852	skin	malignant_melanoma	Substitution - Missense
c.358C>A; p.P120T; 4:99316107-99316107	skin	malignant_melanoma	Substitution - Missense
c.797C>T; p.S266L; 4:99313852-99313852	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.797C>T; p.S266L; 4:99313852-99313852	skin	malignant_melanoma	Substitution - Missense
c.797C>T; p.S266L; 4:99313852-99313852	skin	malignant_melanoma	Substitution - Missense
c.1016A>C; p.K339T; 4:99310852-99310852	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.814C>T; p.R272W; 4:99313835-99313835	skin	malignant_melanoma	Substitution - Missense
c.814C>T; p.R272W; 4:99313835-99313835	skin	malignant_melanoma	Substitution - Missense
c.904C>T; p.L302F; 4:99311581-99311581	skin	malignant_melanoma	Substitution - Missense
c.787G>T; p.V263L; 4:99313862-99313862	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.107_120del14; p.E36fs*11; 4:99318785-99318798	liver	carcinoma	Deletion - Frameshift
c.577G>T; p.G193C; 4:99314072-99314072	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.917C>A; p.P306H; 4:99311568-99311568	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.917C>A; p.P306H; 4:99311568-99311568	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.260-3C>T; p.?; 4:99316305-99316305	skin; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.1083C>T; p.D361D; 4:99310785-99310785	skin	malignant_melanoma	Substitution - coding silent
c.1017G>A; p.K339K; 4:99310851-99310851	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.142C>T; p.H48Y; 4:99318163-99318163	skin	malignant_melanoma	Substitution - Missense
c.291G>T; p.Q97H; 4:99316271-99316271	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.8C>T; p.T3I; 4:99321324-99321324	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.602T>A; p.L201Q; 4:99314047-99314047	central_nervous_system; brain	glioma	Substitution - Missense
c.924G>A; p.L308L; 4:99311561-99311561	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - coding silent
c.195T>A; p.I65I; 4:99318110-99318110	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.807C>A; p.V269V; 4:99313842-99313842	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.979G>C; p.E327Q; 4:99310889-99310889	thyroid	carcinoma	Substitution - Missense
c.225G>T; p.E75D; 4:99318080-99318080	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1098G>A; p.G366G; 4:99310770-99310770	skin	malignant_melanoma	Substitution - coding silent
c.1098G>A; p.G366G; 4:99310770-99310770	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.336C>T; p.C112C; 4:99316226-99316226	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1019A>C; p.K340T; 4:99310849-99310849	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.428G>A; p.G143D; 4:99316037-99316037	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.305G>T; p.R102I; 4:99316257-99316257	liver	carcinoma	Substitution - Missense
c.220G>A; p.V74M; 4:99318085-99318085	skin	malignant_melanoma	Substitution - Missense
c.353G>A; p.G118D; 4:99316112-99316112	skin	malignant_melanoma	Substitution - Missense
c.220G>A; p.V74M; 4:99318085-99318085	NS	NS	Substitution - Missense
c.305G>T; p.R102I; 4:99316257-99316257	liver	carcinoma	Substitution - Missense
c.1058T>C; p.F353S; 4:99310810-99310810	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1072G>A; p.E358K; 4:99310796-99310796	skin	malignant_melanoma	Substitution - Missense
c.915C>T; p.N305N; 4:99311570-99311570	skin	malignant_melanoma	Substitution - coding silent
c.641C>A; p.A214E; 4:99314008-99314008	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.418C>T; p.H140Y; 4:99316047-99316047	skin	malignant_melanoma	Substitution - Missense
c.500T>A; p.L167Q; 4:99315965-99315965	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.18+1G>T; p.?; 4:99321313-99321313	large_intestine; caecum	carcinoma; adenocarcinoma	Unknown
c.567+8T>G; p.?; 4:99315890-99315890	liver	carcinoma	Unknown
c.702A>G; p.K234K; 4:99313947-99313947	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.943T>G; p.W315G; 4:99311542-99311542	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.893C>T; p.A298V; 4:99311592-99311592	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.14G>A; p.G5E; 4:99321318-99321318	skin	malignant_melanoma	Substitution - Missense
c.1116C>T; p.V372V; 4:99307852-99307852	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.509T>G; p.V170G; 4:99315956-99315956	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.656G>A; p.R219K; 4:99313993-99313993	skin	malignant_melanoma	Substitution - Missense
c.811G>A; p.G271S; 4:99313838-99313838	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; Burkitt_lymphoma	Substitution - Missense
c.853G>A; p.E285K; 4:99311632-99311632	skin	malignant_melanoma	Substitution - Missense
c.1062A>C; p.E354D; 4:99310806-99310806	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1103+1G>A; p.?; 4:99310764-99310764	skin	malignant_melanoma	Unknown
c.85G>T; p.V29F; 4:99318820-99318820	breast	carcinoma	Substitution - Missense
c.998T>C; p.V333A; 4:99310870-99310870	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.783A>C; p.G261G; 4:99313866-99313866	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.887C>T; p.P296L; 4:99311598-99311598	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.784G>T; p.G262C; 4:99313865-99313865	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.128C>T; p.A43V; 4:99318177-99318177	skin	malignant_melanoma	Substitution - Missense
c.359C>A; p.P120H; 4:99316106-99316106	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.580T>C; p.S194P; 4:99314069-99314069	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.580T>C; p.S194P; 4:99314069-99314069	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.580T>C; p.S194P; 4:99314069-99314069	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.896C>T; p.S299F; 4:99311589-99311589	skin	malignant_melanoma	Substitution - Missense
c.580T>C; p.S194P; 4:99314069-99314069	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.580T>C; p.S194P; 4:99314069-99314069	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.67delT; p.S23fs*22; 4:99318838-99318838	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1035G>A; p.A345A; 4:99310833-99310833	skin	malignant_melanoma	Substitution - coding silent
c.57G>T; p.K19N; 4:99318848-99318848	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.380G>A; p.G127D; 4:99316085-99316085	skin	malignant_melanoma	Substitution - Missense
c.262G>A; p.D88N; 4:99316300-99316300	skin	malignant_melanoma	Substitution - Missense
c.225G>A; p.E75E; 4:99318080-99318080	skin	malignant_melanoma	Substitution - coding silent
c.1097G>T; p.G366V; 4:99310771-99310771	liver	carcinoma	Substitution - Missense
c.1097G>T; p.G366V; 4:99310771-99310771	liver	carcinoma	Substitution - Missense
c.346delG; p.D116fs*2; 4:99316216-99316216	liver	carcinoma; hepatocellular_carcinoma	Deletion - Frameshift

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation