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	116841
Symbol	SNAP47
Synonymous	C1orf142\|HEL170\|SNAP-47\|SVAP1
Full name	synaptosomal-associated protein, 47kDa
Gene description	epididymis luminal protein 170\|synaptosomal-associated 47 kDa protein\|synaptosomal-associated protein 47
Cytoband	1q42.13
Gene type	protein-coding
Synonymous	HGNC:HGNC:30669; Ensembl:ENSG00000143740; HPRD:17148; Vega:OTTHUMG00000037697

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.496G>C; p.E166Q; 1:227748097-227748097	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.802T>A; p.S268T; 1:227759164-227759164	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.802T>A; p.S268T; 1:227759164-227759164	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.802T>A; p.S268T; 1:227759164-227759164	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.480A>G; p.P160P; 1:227748081-227748081	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.96G>A; p.Q32Q; 1:227747697-227747697	skin	malignant_melanoma	Substitution - coding silent
c.1070G>A; p.R357K; 1:227759432-227759432	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.545C>T; p.A182V; 1:227748146-227748146	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.378C>T; p.S126S; 1:227747979-227747979	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.504G>A; p.T168T; 1:227748105-227748105	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1002G>T; p.E334D; 1:227759364-227759364	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1141C>T; p.R381C; 1:227766976-227766976	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1109C>G; p.S370*; 1:227759471-227759471	ovary	carcinoma; serous_carcinoma	Substitution - Nonsense
c.1109C>G; p.S370*; 1:227759471-227759471	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.423T>A; p.H141Q; 1:227748024-227748024	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1283C>T; p.A428V; 1:227780561-227780561	skin	malignant_melanoma	Substitution - Missense
c.1002G>A; p.E334E; 1:227759364-227759364	breast	carcinoma	Substitution - coding silent
c.1237G>T; p.E413*; 1:227767072-227767072	lung	carcinoma; small_cell_carcinoma	Substitution - Nonsense
c.643G>T; p.E215*; 1:227759005-227759005	liver	carcinoma	Substitution - Nonsense
c.643G>T; p.E215*; 1:227759005-227759005	liver	carcinoma	Substitution - Nonsense
c.1237G>T; p.E413*; 1:227767072-227767072	lung	carcinoma; small_cell_carcinoma	Substitution - Nonsense
c.928G>A; p.E310K; 1:227759290-227759290	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1299G>C; p.E433D; 1:227780577-227780577	breast	carcinoma	Substitution - Missense
c.1383G>A; p.K461K; 1:227780661-227780661	skin	malignant_melanoma	Substitution - coding silent
c.1093G>A; p.A365T; 1:227759455-227759455	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.514G>A; p.A172T; 1:227748115-227748115	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.995T>C; p.M332T; 1:227759357-227759357	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.530G>A; p.R177H; 1:227748131-227748131	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.319C>T; p.H107Y; 1:227747920-227747920	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.346C>T; p.L116L; 1:227747947-227747947	skin	malignant_melanoma	Substitution - coding silent
c.341C>T; p.T114I; 1:227747942-227747942	skin	malignant_melanoma	Substitution - Missense
c.726C>T; p.S242S; 1:227759088-227759088	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.243C>T; p.F81F; 1:227747844-227747844	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1385G>A; p.R462K; 1:227780663-227780663	skin	malignant_melanoma	Substitution - Missense
c.116G>A; p.R39H; 1:227747717-227747717	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.116G>A; p.R39H; 1:227747717-227747717	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1158G>T; p.E386D; 1:227766993-227766993	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.742C>T; p.P248S; 1:227759104-227759104	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.260G>T; p.G87V; 1:227747861-227747861	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.827C>T; p.T276I; 1:227759189-227759189	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.448C>G; p.Q150E; 1:227748049-227748049	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.1008C>T; p.I336I; 1:227759370-227759370	skin	malignant_melanoma	Substitution - coding silent
c.946C>A; p.R316R; 1:227759308-227759308	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1249-1G>C; p.?; 1:227780526-227780526	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Unknown
c.898G>A; p.V300M; 1:227759260-227759260	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.898G>A; p.V300M; 1:227759260-227759260	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.904G>A; p.D302N; 1:227759266-227759266	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.977G>A; p.R326H; 1:227759339-227759339	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1248G>T; p.Q416H; 1:227767083-227767083	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.246G>A; p.M82I; 1:227747847-227747847	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.436C>T; p.L146L; 1:227748037-227748037	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.293T>A; p.I98K; 1:227747894-227747894	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.1132C>T; p.L378L; 1:227766967-227766967	liver	carcinoma	Substitution - coding silent
c.1132C>T; p.L378L; 1:227766967-227766967	liver	carcinoma	Substitution - coding silent
c.855T>C; p.H285H; 1:227759217-227759217	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.626C>T; p.A209V; 1:227748227-227748227	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.136A>G; p.M46V; 1:227747737-227747737	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1142G>A; p.R381H; 1:227766977-227766977	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.254G>A; p.S85N; 1:227747855-227747855	thyroid	carcinoma	Substitution - Missense
c.976C>T; p.R326C; 1:227759338-227759338	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1038G>T; p.K346N; 1:227759400-227759400	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.976C>T; p.R326C; 1:227759338-227759338	skin	malignant_melanoma	Substitution - Missense
c.97A>G; p.K33E; 1:227747698-227747698	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.948G>A; p.R316R; 1:227759310-227759310	skin	malignant_melanoma	Substitution - coding silent
c.442C>T; p.L148L; 1:227748043-227748043	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1215C>T; p.A405A; 1:227767050-227767050	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.498G>A; p.E166E; 1:227748099-227748099	upper_aerodigestive_tract; pharynx	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.796A>G; p.T266A; 1:227759158-227759158	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.762A>T; p.I254I; 1:227759124-227759124	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.487C>T; p.R163W; 1:227748088-227748088	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.750G>T; p.G250G; 1:227759112-227759112	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.48G>A; p.P16P; 1:227735457-227735457	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.831C>T; p.V277V; 1:227759193-227759193	autonomic_ganglia	neuroblastoma	Substitution - coding silent
c.1123+2T>C; p.?; 1:227759487-227759487	skin	malignant_melanoma	Unknown
c.484A>G; p.T162A; 1:227748085-227748085	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.509T>C; p.L170P; 1:227748110-227748110	thyroid	other; neoplasm	Substitution - Missense
c.501G>A; p.L167L; 1:227748102-227748102	breast	carcinoma	Substitution - coding silent
c.141C>T; p.S47S; 1:227747742-227747742	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.489G>A; p.R163R; 1:227748090-227748090	liver	carcinoma	Substitution - coding silent
c.1336G>A; p.V446M; 1:227780614-227780614	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1336G>A; p.V446M; 1:227780614-227780614	large_intestine; colon	carcinoma	Substitution - Missense
c.1336G>A; p.V446M; 1:227780614-227780614	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.387G>A; p.R129R; 1:227747988-227747988	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation