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	2697
Symbol	GJA1
Synonymous	AVSD3\|CMDR\|CX43\|GJAL\|HLHS1\|HSS\|ODDD
Full name	gap junction protein, alpha 1, 43kDa
Gene description	connexin 43\|connexin-43\|gap junction 43 kDa heart protein\|gap junction alpha-1 protein
Cytoband	6q22.31
Gene type	protein-coding
Synonymous	MIM:121014; HGNC:HGNC:4274; Ensembl:ENSG00000152661; HPRD:00414; Vega:OTTHUMG00000015479

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.956G>A; p.R319Q; 6:121447803-121447803	breast	carcinoma	Substitution - Missense
c.293A>C; p.Y98S; 6:121447140-121447140	central_nervous_system; brain	glioma; astrocytoma_Grade_II	Substitution - Missense
c.293A>C; p.Y98S; 6:121447140-121447140	central_nervous_system; brain	glioma; astrocytoma_Grade_II	Substitution - Missense
c.301C>T; p.R101*; 6:121447148-121447148	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.380T>G; p.L127W; 6:121447227-121447227	breast	carcinoma	Substitution - Missense
c.342G>T; p.K114N; 6:121447189-121447189	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.803T>C; p.F268S; 6:121447650-121447650	skin	malignant_melanoma	Substitution - Missense
c.675C>A; p.I225I; 6:121447522-121447522	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1075G>T; p.V359L; 6:121447922-121447922	central_nervous_system; brain	glioma	Substitution - Missense
c.1108C>A; p.R370S; 6:121447955-121447955	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.433G>T; p.V145L; 6:121447280-121447280	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.826G>A; p.A276T; 6:121447673-121447673	liver	carcinoma	Substitution - Missense
c.990C>T; p.S330S; 6:121447837-121447837	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.50A>G; p.Y17C; 6:121446897-121446897	breast	carcinoma	Substitution - Missense
c.826G>A; p.A276T; 6:121447673-121447673	liver	carcinoma	Substitution - Missense
c.896G>A; p.R299H; 6:121447743-121447743	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1085G>A; p.R362Q; 6:121447932-121447932	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.157C>G; p.R53G; 6:121447004-121447004	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.675C>T; p.I225I; 6:121447522-121447522	skin	malignant_melanoma	Substitution - coding silent
c.887C>T; p.S296F; 6:121447734-121447734	skin	malignant_melanoma	Substitution - Missense
c.945A>G; p.A315A; 6:121447792-121447792	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.368T>C; p.V123A; 6:121447215-121447215	liver	carcinoma	Substitution - Missense
c.1088C>T; p.P363L; 6:121447935-121447935	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.443G>A; p.R148Q; 6:121447290-121447290	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.651C>A; p.S217S; 6:121447498-121447498	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.893G>C; p.C298S; 6:121447740-121447740	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1011C>T; p.F337F; 6:121447858-121447858	skin	malignant_melanoma	Substitution - coding silent
c.913G>T; p.A305S; 6:121447760-121447760	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.605G>A; p.R202H; 6:121447452-121447452	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.110T>C; p.L37P; 6:121446957-121446957	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.461C>A; p.T154N; 6:121447308-121447308	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.461C>A; p.T154N; 6:121447308-121447308	liver	carcinoma	Substitution - Missense
c.141T>C; p.D47D; 6:121446988-121446988	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.747G>A; p.A249A; 6:121447594-121447594	skin	malignant_melanoma	Substitution - coding silent
c.158G>T; p.R53L; 6:121447005-121447005	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.157C>T; p.R53C; 6:121447004-121447004	skin	malignant_melanoma	Substitution - Missense
c.157C>T; p.R53C; 6:121447004-121447004	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.51C>T; p.Y17Y; 6:121446898-121446898	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.641T>C; p.L214P; 6:121447488-121447488	skin; sole	malignant_melanoma; acral_lentiginous	Substitution - Missense
c.457C>T; p.R153*; 6:121447304-121447304	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.894C>T; p.C298C; 6:121447741-121447741	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.836C>T; p.S279L; 6:121447683-121447683	skin	malignant_melanoma	Substitution - Missense
c.716G>A; p.R239Q; 6:121447563-121447563	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.950A>G; p.Q317R; 6:121447797-121447797	breast	carcinoma	Substitution - Missense
c.836C>T; p.S279L; 6:121447683-121447683	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.620C>A; p.T207N; 6:121447467-121447467	skin	malignant_melanoma	Substitution - Missense
c.318G>A; p.L106L; 6:121447165-121447165	cervix	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.633C>T; p.I211I; 6:121447480-121447480	skin	malignant_melanoma	Substitution - coding silent
c.719T>G; p.V240G; 6:121447566-121447566	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.302G>A; p.R101Q; 6:121447149-121447149	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.114G>A; p.G38G; 6:121446961-121446961	skin	malignant_melanoma	Substitution - coding silent
c.530A>G; p.Y177C; 6:121447377-121447377	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.502G>A; p.A168T; 6:121447349-121447349	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.611C>T; p.T204M; 6:121447458-121447458	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.428G>A; p.G143D; 6:121447275-121447275	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.98G>A; p.R33Q; 6:121446945-121446945	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2T>A; p.M1K; 6:121446849-121446849	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.969G>A; p.A323A; 6:121447816-121447816	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.942T>G; p.S314R; 6:121447789-121447789	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1089T>G; p.P363P; 6:121447936-121447936	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.39G>T; p.K13N; 6:121446886-121446886	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.454C>A; p.L152M; 6:121447301-121447301	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1080C>A; p.D360E; 6:121447927-121447927	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1106G>A; p.S369N; 6:121447953-121447953	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.787C>A; p.Q263K; 6:121447634-121447634	urinary_tract; bladder	carcinoma	Substitution - Missense
c.566G>A; p.R189K; 6:121447413-121447413	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.548C>A; p.A183D; 6:121447395-121447395	breast	carcinoma	Substitution - Missense
c.90C>T; p.F30F; 6:121446937-121446937	skin	malignant_melanoma	Substitution - coding silent
c.646G>C; p.V216L; 6:121447493-121447493	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.869C>T; p.T290I; 6:121447716-121447716	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.510G>C; p.L170F; 6:121447357-121447357	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.774A>G; p.K258K; 6:121447621-121447621	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.549T>A; p.A183A; 6:121447396-121447396	pancreas	carcinoma	Substitution - coding silent
c.718G>C; p.V240L; 6:121447565-121447565	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.718G>C; p.V240L; 6:121447565-121447565	liver	carcinoma	Substitution - Missense
c.718G>C; p.V240L; 6:121447565-121447565	liver	carcinoma	Substitution - Missense
c.968C>T; p.A323V; 6:121447815-121447815	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.968C>T; p.A323V; 6:121447815-121447815	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.932delC; p.A311fs*37; 6:121447779-121447779	soft_tissue; striated_muscle	rhabdomyosarcoma	Deletion - Frameshift
c.766C>A; p.P256T; 6:121447613-121447613	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.421G>A; p.E141K; 6:121447268-121447268	skin	malignant_melanoma	Substitution - Missense
c.458G>A; p.R153Q; 6:121447305-121447305	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.375G>A; p.M125I; 6:121447222-121447222	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.782G>T; p.G261V; 6:121447629-121447629	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.715C>T; p.R239W; 6:121447562-121447562	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.715C>T; p.R239W; 6:121447562-121447562	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.715C>T; p.R239W; 6:121447562-121447562	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.679G>T; p.E227*; 6:121447526-121447526	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.824C>T; p.T275I; 6:121447671-121447671	skin	malignant_melanoma	Substitution - Missense
c.824C>T; p.T275I; 6:121447671-121447671	skin	malignant_melanoma	Substitution - Missense
c.679G>T; p.E227*; 6:121447526-121447526	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.611C>A; p.T204K; 6:121447458-121447458	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.865G>C; p.V289L; 6:121447712-121447712	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.573C>A; p.P191P; 6:121447420-121447420	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.547G>A; p.A183T; 6:121447394-121447394	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1042G>A; p.A348T; 6:121447889-121447889	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.705C>T; p.G235G; 6:121447552-121447552	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.16G>A; p.A6T; 6:121446863-121446863	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.747G>T; p.A249A; 6:121447594-121447594	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1018G>T; p.D340Y; 6:121447865-121447865	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.281C>A; p.A94D; 6:121447128-121447128	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.328G>A; p.E110K; 6:121447175-121447175	skin	malignant_melanoma	Substitution - Missense
c.263C>T; p.P88L; 6:121447110-121447110	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.246C>T; p.I82I; 6:121447093-121447093	skin	malignant_melanoma	Substitution - coding silent
c.399G>T; p.K133N; 6:121447246-121447246	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.119C>T; p.A40V; 6:121446966-121446966	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1049G>A; p.G350E; 6:121447896-121447896	skin	malignant_melanoma	Substitution - Missense
c.442C>T; p.R148*; 6:121447289-121447289	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.442C>T; p.R148*; 6:121447289-121447289	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.124G>T; p.E42*; 6:121446971-121446971	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.581A>T; p.H194L; 6:121447428-121447428	lung	carcinoma; small_cell_carcinoma	Substitution - Missense

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation