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	220
Symbol	ALDH1A3
Synonymous	ALDH1A6\|ALDH6\|MCOP8\|RALDH3
Full name	aldehyde dehydrogenase 1 family, member A3
Gene description	acetaldehyde dehydrogenase 6\|aldehyde dehydrogenase 6\|aldehyde dehydrogenase family 1 member A3\|retinaldehyde dehydrogenase 3
Cytoband	15q26.3
Gene type	protein-coding
Synonymous	MIM:600463; HGNC:HGNC:409; Ensembl:ENSG00000184254; HPRD:02713; Vega:OTTHUMG00000186439

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.933C>T; p.G311G; 15:100900624-100900624	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.446A>G; p.D149G; 15:100892610-100892610	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.446A>G; p.D149G; 15:100892610-100892610	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.580G>A; p.A194T; 15:100893996-100893996	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1156A>G; p.M386V; 15:100905610-100905610	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.546C>T; p.F182F; 15:100893962-100893962	skin	malignant_melanoma	Substitution - coding silent
c.377T>G; p.F126C; 15:100892541-100892541	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.906C>A; p.A302A; 15:100900597-100900597	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.876C>G; p.D292E; 15:100898178-100898178	breast	carcinoma	Substitution - Missense
c.310G>A; p.A104T; 15:100887677-100887677	liver	carcinoma	Substitution - Missense
c.1476C>T; p.Y492Y; 15:100914710-100914710	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1322C>T; p.A441V; 15:100907209-100907209	breast	carcinoma	Substitution - Missense
c.1003G>A; p.V335M; 15:100900694-100900694	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.539G>A; p.W180*; 15:100893955-100893955	breast	carcinoma	Substitution - Nonsense
c.1341T>C; p.N447N; 15:100907228-100907228	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.559C>A; p.L187M; 15:100893975-100893975	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.436G>T; p.G146W; 15:100892600-100892600	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1042G>A; p.D348N; 15:100900733-100900733	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.810C>T; p.S270S; 15:100898112-100898112	breast	carcinoma	Substitution - coding silent
c.780G>C; p.E260D; 15:100896046-100896046	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1508T>C; p.V503A; 15:100914742-100914742	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1508T>C; p.V503A; 15:100914742-100914742	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.221C>T; p.A74V; 15:100887588-100887588	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.221C>T; p.A74V; 15:100887588-100887588	liver	carcinoma	Substitution - Missense
c.221C>T; p.A74V; 15:100887588-100887588	liver	carcinoma	Substitution - Missense
c.439T>C; p.W147R; 15:100892603-100892603	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.19G>A; p.A7T; 15:100879926-100879926	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.843_844insG; p.K284fs*11; 15:100898145-100898146	stomach	adenocarcinoma	Insertion - Frameshift
c.1234-1G>C; p.?; 15:100907120-100907120	NS	NS	Unknown
c.617C>T; p.A206V; 15:100894033-100894033	stomach	carcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiable	Substitution - Missense
c.1236T>G; p.I412M; 15:100907123-100907123	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.637G>A; p.A213T; 15:100894053-100894053	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.579C>T; p.P193P; 15:100893995-100893995	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.153A>C; p.T51T; 15:100885320-100885320	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.877G>A; p.A293T; 15:100898179-100898179	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.789A>C; p.K263N; 15:100898091-100898091	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.1485C>T; p.A495A; 15:100914719-100914719	pancreas	carcinoma; ductal_carcinoma	Substitution - coding silent
c.376T>A; p.F126I; 15:100892540-100892540	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1407C>T; p.N469N; 15:100908423-100908423	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1306G>A; p.D436N; 15:100907193-100907193	central_nervous_system; brain	glioma	Substitution - Missense
c.892G>T; p.A298S; 15:100900583-100900583	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.736T>C; p.S246P; 15:100896002-100896002	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.736T>C; p.S246P; 15:100896002-100896002	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.241G>A; p.A81T; 15:100887608-100887608	skin	malignant_melanoma	Substitution - Missense
c.830T>A; p.V277E; 15:100898132-100898132	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1143C>T; p.C381C; 15:100905597-100905597	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.606C>A; p.V202V; 15:100894022-100894022	lung	carcinoma; non_small_cell_carcinoma	Substitution - coding silent
c.207C>T; p.P69P; 15:100887574-100887574	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.768C>T; p.T256T; 15:100896034-100896034	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.486C>T; p.V162V; 15:100892955-100892955	breast	carcinoma	Substitution - coding silent
c.486C>T; p.V162V; 15:100892955-100892955	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.842_843insG; p.K284fs*11; 15:100898144-100898145	large_intestine; caecum	carcinoma; adenocarcinoma	Insertion - Frameshift
c.553C>T; p.L185L; 15:100893969-100893969	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1345G>A; p.D449N; 15:100907232-100907232	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.759C>A; p.I253I; 15:100896025-100896025	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.21C>T; p.A7A; 15:100879928-100879928	pancreas	NS	Substitution - coding silent
c.447C>A; p.D149E; 15:100892611-100892611	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; essential_thrombocythaemia	Substitution - Missense
c.1315C>A; p.L439I; 15:100907202-100907202	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.9C>T; p.T3T; 15:100879916-100879916	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.493T>A; p.F165I; 15:100892962-100892962	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.493T>A; p.F165I; 15:100892962-100892962	liver	carcinoma	Substitution - Missense
c.292C>T; p.R98W; 15:100887659-100887659	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.292C>T; p.R98W; 15:100887659-100887659	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1107C>A; p.I369I; 15:100905561-100905561	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.300G>C; p.L100L; 15:100887667-100887667	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.482A>G; p.N161S; 15:100892951-100892951	pancreas	carcinoid-endocrine_tumour	Substitution - Missense
c.99G>C; p.K33N; 15:100880006-100880006	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.585C>G; p.L195L; 15:100894001-100894001	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.664G>T; p.E222*; 15:100894080-100894080	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.561G>T; p.L187L; 15:100893977-100893977	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1252C>T; p.P418S; 15:100907139-100907139	skin	malignant_melanoma	Substitution - Missense
c.1114G>A; p.G372R; 15:100905568-100905568	prostate	carcinoma	Substitution - Missense
c.616G>A; p.A206T; 15:100894032-100894032	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.139A>G; p.K47E; 15:100885306-100885306	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.265C>T; p.R89C; 15:100887632-100887632	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1342C>A; p.L448I; 15:100907229-100907229	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.700_701delCC; p.P234fs*32; 15:100895966-100895967	large_intestine; rectum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.475G>T; p.D159Y; 15:100892639-100892639	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.747G>T; p.Q249H; 15:100896013-100896013	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1276G>A; p.E426K; 15:100907163-100907163	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1276G>A; p.E426K; 15:100907163-100907163	breast	carcinoma	Substitution - Missense
c.1408G>A; p.A470T; 15:100908424-100908424	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1408G>A; p.A470T; 15:100908424-100908424	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1022G>T; p.R341L; 15:100900713-100900713	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1478C>T; p.A493V; 15:100914712-100914712	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.336C>T; p.A112A; 15:100887703-100887703	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.257C>T; p.S86L; 15:100887624-100887624	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.257C>T; p.S86L; 15:100887624-100887624	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.257C>T; p.S86L; 15:100887624-100887624	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.123C>T; p.H41H; 15:100885290-100885290	central_nervous_system; brain	glioma	Substitution - coding silent
c.346-3C>A; p.?; 15:100892507-100892507	liver	carcinoma	Unknown
c.346-3C>A; p.?; 15:100892507-100892507	liver	carcinoma	Unknown
c.636C>T; p.T212T; 15:100894052-100894052	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1266C>G; p.F422L; 15:100907153-100907153	breast	carcinoma	Substitution - Missense
c.1344C>T; p.L448L; 15:100907231-100907231	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.843delG; p.K284fs*83; 15:100898145-100898145	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.843delG; p.K284fs*83; 15:100898145-100898145	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.843delG; p.K284fs*83; 15:100898145-100898145	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.843delG; p.K284fs*83; 15:100898145-100898145	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.843delG; p.K284fs*83; 15:100898145-100898145	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.843delG; p.K284fs*83; 15:100898145-100898145	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.843delG; p.K284fs*83; 15:100898145-100898145	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.544T>G; p.F182V; 15:100893960-100893960	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1061G>T; p.G354V; 15:100900752-100900752	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.334G>A; p.A112T; 15:100887701-100887701	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1063C>T; p.P355S; 15:100900754-100900754	skin; scalp	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.676C>T; p.P226S; 15:100895942-100895942	skin	malignant_melanoma	Substitution - Missense
c.1462G>T; p.E488*; 15:100908478-100908478	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.953C>G; p.S318C; 15:100900644-100900644	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.1064C>T; p.P355L; 15:100900755-100900755	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.953C>G; p.S318C; 15:100900644-100900644	urinary_tract; bladder	carcinoma	Substitution - Missense
c.400C>T; p.L134L; 15:100892564-100892564	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation