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	1138
Symbol	CHRNA5
Synonymous	LNCR2
Full name	cholinergic receptor, nicotinic, alpha 5 (neuronal)
Gene description	Cholinergic receptor, neuronal nicotinic, alpha polypeptide-5\|acetylcholine receptor, nicotinic, alpha 5 (neuronal)\|neuronal acetylcholine receptor subunit alpha-5\|neuronal nicotinic acetylcholine receptor, alpha5 subunit
Cytoband	15q24
Gene type	protein-coding
Synonymous	MIM:118505; HGNC:HGNC:1959; Ensembl:ENSG00000169684; HPRD:00334; Vega:OTTHUMG00000143858

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.375A>C; p.S125S; 15:78588385-78588385	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.262G>A; p.E88K; 15:78586648-78586648	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.886C>T; p.L296F; 15:78590277-78590277	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.289G>A; p.V97I; 15:78586675-78586675	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.607G>T; p.E203*; 15:78589998-78589998	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.917C>T; p.S306F; 15:78590308-78590308	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.743G>A; p.R248H; 15:78590134-78590134	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.743G>A; p.R248H; 15:78590134-78590134	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.456C>G; p.I152M; 15:78589847-78589847	breast	carcinoma	Substitution - Missense
c.790C>T; p.L264F; 15:78590181-78590181	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1239C>T; p.V413V; 15:78590630-78590630	skin	malignant_melanoma	Substitution - coding silent
c.421G>A; p.G141R; 15:78589812-78589812	skin	malignant_melanoma	Substitution - Missense
c.713C>T; p.P238L; 15:78590104-78590104	skin	malignant_melanoma	Substitution - Missense
c.1391G>A; p.G464E; 15:78593237-78593237	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.908T>C; p.I303T; 15:78590299-78590299	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.908T>C; p.I303T; 15:78590299-78590299	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.632_633insT; p.D214fs*1; 15:78590023-78590024	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.309G>C; p.W103C; 15:78588319-78588319	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1148G>A; p.G383D; 15:78590539-78590539	central_nervous_system; brain	glioma	Substitution - Missense
c.841A>C; p.K281Q; 15:78590232-78590232	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1311C>T; p.F437F; 15:78593157-78593157	skin	malignant_melanoma	Substitution - coding silent
c.1374A>C; p.L458F; 15:78593220-78593220	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.1311C>T; p.F437F; 15:78593157-78593157	skin	malignant_melanoma	Substitution - coding silent
c.1311C>T; p.F437F; 15:78593157-78593157	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.533C>T; p.P178L; 15:78589924-78589924	skin; upper_arm	malignant_melanoma	Substitution - Missense
c.1266C>T; p.F422F; 15:78593112-78593112	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1266C>T; p.F422F; 15:78593112-78593112	skin	malignant_melanoma	Substitution - coding silent
c.552T>C; p.C184C; 15:78589943-78589943	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.330G>T; p.W110C; 15:78588340-78588340	breast	carcinoma	Substitution - Missense
c.633delT; p.F213fs*9; 15:78590024-78590024	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.779C>T; p.P260L; 15:78590170-78590170	skin	malignant_melanoma	Substitution - Missense
c.885C>T; p.F295F; 15:78590276-78590276	skin	malignant_melanoma	Substitution - coding silent
c.364C>T; p.R122C; 15:78588374-78588374	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.364C>T; p.R122C; 15:78588374-78588374	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.191C>A; p.P64H; 15:78580895-78580895	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.313G>A; p.D105N; 15:78588323-78588323	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.609G>A; p.E203E; 15:78590000-78590000	skin	malignant_melanoma	Substitution - coding silent
c.587C>T; p.S196L; 15:78589978-78589978	skin	malignant_melanoma	Substitution - Missense
c.478T>G; p.W160G; 15:78589869-78589869	skin	malignant_melanoma	Substitution - Missense
c.34C>T; p.R12C; 15:78565753-78565753	skin; trunk	malignant_melanoma	Substitution - Missense
c.1254A>T; p.E418D; 15:78593100-78593100	skin	malignant_melanoma	Substitution - Missense
c.943G>C; p.E315Q; 15:78590334-78590334	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.258+2T>C; p.?; 15:78580964-78580964	stomach	carcinoma; adenocarcinoma	Unknown
c.187C>T; p.R63C; 15:78580891-78580891	skin	malignant_melanoma	Substitution - Missense
c.1122C>T; p.F374F; 15:78590513-78590513	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.418G>A; p.D140N; 15:78589809-78589809	skin	malignant_melanoma	Substitution - Missense
c.1075A>T; p.T359S; 15:78590466-78590466	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.844A>T; p.I282F; 15:78590235-78590235	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.844A>T; p.I282F; 15:78590235-78590235	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.444G>A; p.T148T; 15:78589835-78589835	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.444G>A; p.T148T; 15:78589835-78589835	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.444G>A; p.T148T; 15:78589835-78589835	fallopian_tube	carcinoma; serous_carcinoma	Substitution - coding silent
c.444G>A; p.T148T; 15:78589835-78589835	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.444G>A; p.T148T; 15:78589835-78589835	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.444G>A; p.T148T; 15:78589835-78589835	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.444G>A; p.T148T; 15:78589835-78589835	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.444G>A; p.T148T; 15:78589835-78589835	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.444G>A; p.T148T; 15:78589835-78589835	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.307T>C; p.W103R; 15:78588317-78588317	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1067T>G; p.F356C; 15:78590458-78590458	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.560A>C; p.K187T; 15:78589951-78589951	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.192T>A; p.P64P; 15:78580896-78580896	skin	malignant_melanoma	Substitution - coding silent
c.1126C>G; p.Q376E; 15:78590517-78590517	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1303T>C; p.F435L; 15:78593149-78593149	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.175G>A; p.E59K; 15:78580879-78580879	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.175G>A; p.E59K; 15:78580879-78580879	skin	malignant_melanoma	Substitution - Missense
c.1192G>A; p.D398N; 15:78590583-78590583	skin	malignant_melanoma	Substitution - Missense
c.1192G>A; p.D398N; 15:78590583-78590583	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.798T>G; p.F266L; 15:78590189-78590189	liver	carcinoma	Substitution - Missense
c.798T>G; p.F266L; 15:78590189-78590189	liver	carcinoma	Substitution - Missense
c.294G>T; p.W98C; 15:78586680-78586680	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.356A>G; p.K119R; 15:78588366-78588366	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.627G>C; p.K209N; 15:78590018-78590018	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1202G>A; p.R401H; 15:78590593-78590593	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.627G>C; p.K209N; 15:78590018-78590018	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.409G>A; p.D137N; 15:78588419-78588419	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1046C>T; p.A349V; 15:78590437-78590437	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1082C>T; p.P361L; 15:78590473-78590473	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.201delC; p.L68fs*1; 15:78580905-78580905	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1173C>T; p.N391N; 15:78590564-78590564	central_nervous_system; medulla	primitive_neuroectodermal_tumour-medulloblastoma; classic	Substitution - coding silent
c.694G>A; p.D232N; 15:78590085-78590085	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; mantle_cell_lymphoma	Substitution - Missense
c.713C>A; p.P238Q; 15:78590104-78590104	skin; extremity	malignant_melanoma	Substitution - Missense
c.1321G>A; p.V441I; 15:78593167-78593167	prostate	carcinoma	Substitution - Missense
c.1321G>A; p.V441I; 15:78593167-78593167	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.865C>T; p.L289F; 15:78590256-78590256	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.631G>T; p.D211Y; 15:78590022-78590022	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1054G>A; p.V352I; 15:78590445-78590445	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.340G>T; p.D114Y; 15:78588350-78588350	soft_tissue; striated_muscle	rhabdomyosarcoma; alveolar	Substitution - Missense
c.464A>G; p.N155S; 15:78589855-78589855	breast	carcinoma	Substitution - Missense
c.340G>T; p.D114Y; 15:78588350-78588350	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1168A>G; p.R390G; 15:78590559-78590559	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation