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	1363
Symbol	CPE
Synonymous	-
Full name	carboxypeptidase E
Gene description	CPH\|carboxypeptidase H\|cobalt-stimulated chromaffin granule carboxypeptidase\|enkephalin convertase\|insulin granule-associated carboxypeptidase\|prohormone-processing carboxypeptidase
Cytoband	4q32.3
Gene type	protein-coding
Synonymous	MIM:114855; HGNC:HGNC:2303; Ensembl:ENSG00000109472; HPRD:00272; Vega:OTTHUMG00000150252

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.658G>C; p.D220H; 4:165467841-165467841	liver	carcinoma	Substitution - Missense
c.1150C>T; p.Q384*; 4:165493207-165493207	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.545C>A; p.A182D; 4:165467728-165467728	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1401G>A; p.W467*; 4:165497580-165497580	skin	malignant_melanoma	Substitution - Nonsense
c.1401G>A; p.W467*; 4:165497580-165497580	skin	malignant_melanoma	Substitution - Nonsense
c.1024G>A; p.E342K; 4:165487488-165487488	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.443G>C; p.S148T; 4:165464525-165464525	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1081_1082AA>TT; p.N361F; 4:165487545-165487546	lung; middle_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.383C>T; p.A128V; 4:165464465-165464465	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1342G>A; p.E448K; 4:165497521-165497521	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1342G>A; p.E448K; 4:165497521-165497521	skin	malignant_melanoma	Substitution - Missense
c.474C>T; p.N158N; 4:165464556-165464556	ovary	other; neoplasm	Substitution - coding silent
c.474C>T; p.N158N; 4:165464556-165464556	ovary	other; neoplasm	Substitution - coding silent
c.474C>T; p.N158N; 4:165464556-165464556	ovary	other; neoplasm	Substitution - coding silent
c.474C>T; p.N158N; 4:165464556-165464556	ovary	other; neoplasm	Substitution - coding silent
c.565C>T; p.R189W; 4:165467748-165467748	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.791G>T; p.G264V; 4:165484422-165484422	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.823G>A; p.D275N; 4:165484454-165484454	skin	malignant_melanoma	Substitution - Missense
c.1348G>T; p.E450*; 4:165497527-165497527	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.825C>T; p.D275D; 4:165484456-165484456	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.825C>T; p.D275D; 4:165484456-165484456	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.919A>G; p.S307G; 4:165484550-165484550	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.901C>T; p.R301C; 4:165484532-165484532	skin	malignant_melanoma	Substitution - Missense
c.901C>T; p.R301C; 4:165484532-165484532	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.313C>T; p.P105S; 4:165464395-165464395	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1214C>A; p.A405E; 4:165495559-165495559	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1075G>A; p.E359K; 4:165487539-165487539	skin	malignant_melanoma	Substitution - Missense
c.1331G>T; p.G444V; 4:165495676-165495676	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.880G>A; p.D294N; 4:165484511-165484511	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.333G>A; p.G111G; 4:165464415-165464415	skin	malignant_melanoma	Substitution - coding silent
c.333G>A; p.G111G; 4:165464415-165464415	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.712G>A; p.D238N; 4:165482281-165482281	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.642T>C; p.N214N; 4:165467825-165467825	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.712G>A; p.D238N; 4:165482281-165482281	skin; mucosal	malignant_melanoma	Substitution - Missense
c.949G>T; p.G317C; 4:165484580-165484580	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1124G>T; p.G375V; 4:165493181-165493181	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.792T>C; p.G264G; 4:165484423-165484423	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1369G>T; p.E457*; 4:165497548-165497548	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.913G>A; p.D305N; 4:165484544-165484544	skin	malignant_melanoma	Substitution - Missense
c.1211C>T; p.S404F; 4:165493268-165493268	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1271C>G; p.S424*; 4:165495616-165495616	skin	malignant_melanoma	Substitution - Nonsense
c.850G>A; p.A284T; 4:165484481-165484481	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.850G>A; p.A284T; 4:165484481-165484481	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1371A>C; p.E457D; 4:165497550-165497550	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1113+2T>C; p.?; 4:165487579-165487579	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.867C>T; p.N289N; 4:165484498-165484498	skin; shoulder	malignant_melanoma	Substitution - coding silent
c.497C>A; p.A166E; 4:165464579-165464579	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.844G>T; p.A282S; 4:165484475-165484475	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1319G>A; p.S440N; 4:165495664-165495664	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.905A>C; p.K302T; 4:165484536-165484536	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.600G>A; p.V200V; 4:165467783-165467783	skin	malignant_melanoma	Substitution - coding silent
c.982G>T; p.D328Y; 4:165487446-165487446	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.638A>C; p.K213T; 4:165467821-165467821	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.251A>C; p.E84A; 4:165379472-165379472	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.1201G>T; p.D401Y; 4:165493258-165493258	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.317A>C; p.E106A; 4:165464399-165464399	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.186G>A; p.A62A; 4:165379407-165379407	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.448C>T; p.R150C; 4:165464530-165464530	breast	carcinoma	Substitution - Missense
c.809G>A; p.S270N; 4:165484440-165484440	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.751G>A; p.D251N; 4:165482320-165482320	thyroid	carcinoma	Substitution - Missense
c.214G>A; p.A72T; 4:165379435-165379435	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.214G>A; p.A72T; 4:165379435-165379435	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.242G>C; p.R81P; 4:165379463-165379463	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1143A>G; p.R381R; 4:165493200-165493200	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.498G>A; p.A166A; 4:165464580-165464580	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1380G>T; p.K460N; 4:165497559-165497559	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.978G>T; p.M326I; 4:165487442-165487442	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.890G>A; p.R297Q; 4:165484521-165484521	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.739C>T; p.L247F; 4:165482308-165482308	breast	carcinoma	Substitution - Missense
c.1219G>T; p.D407Y; 4:165495564-165495564	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.896C>A; p.P299Q; 4:165484527-165484527	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.896C>T; p.P299L; 4:165484527-165484527	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.566G>A; p.R189Q; 4:165467749-165467749	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.566G>A; p.R189Q; 4:165467749-165467749	eye; uveal_tract	malignant_melanoma; spindle	Substitution - Missense
c.566G>A; p.R189Q; 4:165467749-165467749	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.449G>A; p.R150H; 4:165464531-165464531	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.23C>G; p.A8G; 4:165379244-165379244	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1128T>G; p.V376V; 4:165493185-165493185	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.952G>T; p.A318S; 4:165484583-165484583	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.802G>A; p.E268K; 4:165484433-165484433	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.784C>T; p.R262W; 4:165482353-165482353	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.910G>A; p.D304N; 4:165484541-165484541	skin	malignant_melanoma	Substitution - Missense
c.546C>T; p.A182A; 4:165467729-165467729	skin	malignant_melanoma	Substitution - coding silent
c.834C>T; p.F278F; 4:165484465-165484465	skin	malignant_melanoma	Substitution - coding silent
c.546C>T; p.A182A; 4:165467729-165467729	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.834C>T; p.F278F; 4:165484465-165484465	skin	malignant_melanoma	Substitution - coding silent
c.412G>A; p.G138R; 4:165464494-165464494	skin	malignant_melanoma	Substitution - Missense
c.797C>T; p.A266V; 4:165484428-165484428	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.870G>A; p.P290P; 4:165484501-165484501	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.860C>T; p.S287F; 4:165484491-165484491	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1055A>C; p.E352A; 4:165487519-165487519	skin	malignant_melanoma	Substitution - Missense
c.1302A>C; p.K434N; 4:165495647-165495647	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1167G>A; p.A389A; 4:165493224-165493224	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.567G>A; p.R189R; 4:165467750-165467750	skin; trunk	malignant_melanoma; nodular	Substitution - coding silent
c.1407G>A; p.M469I; 4:165497586-165497586	skin	malignant_melanoma	Substitution - Missense
c.535C>T; p.R179*; 4:165467718-165467718	skin	malignant_melanoma	Substitution - Nonsense
c.945C>A; p.N315K; 4:165484576-165484576	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.963C>A; p.S321R; 4:165484594-165484594	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.610G>A; p.E204K; 4:165467793-165467793	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1040A>C; p.K347T; 4:165487504-165487504	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1040A>C; p.K347T; 4:165487504-165487504	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.297C>T; p.V99V; 4:165379518-165379518	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.596A>G; p.Y199C; 4:165467779-165467779	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.921C>A; p.S307R; 4:165484552-165484552	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.788G>C; p.S263T; 4:165482357-165482357	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.629A>T; p.H210L; 4:165467812-165467812	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.801C>T; p.H267H; 4:165484432-165484432	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.629A>T; p.H210L; 4:165467812-165467812	large_intestine; colon	carcinoma	Substitution - Missense
c.801C>T; p.H267H; 4:165484432-165484432	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.751G>T; p.D251Y; 4:165482320-165482320	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.817C>T; p.P273S; 4:165484448-165484448	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.169C>A; p.P57T; 4:165379390-165379390	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1147C>T; p.L383F; 4:165493204-165493204	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.868C>T; p.P290S; 4:165484499-165484499	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1264A>G; p.T422A; 4:165495609-165495609	thyroid	carcinoma	Substitution - Missense
c.588G>A; p.R196R; 4:165467771-165467771	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.964G>A; p.V322I; 4:165484595-165484595	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.444T>C; p.S148S; 4:165464526-165464526	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.511G>C; p.E171Q; 4:165467694-165467694	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.400G>A; p.E134K; 4:165464482-165464482	skin	malignant_melanoma	Substitution - Missense
c.400G>A; p.E134K; 4:165464482-165464482	skin	malignant_melanoma	Substitution - Missense

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation