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	9520
Symbol	NPEPPS
Synonymous	AAP-S\|MP100\|PSA
Full name	aminopeptidase puromycin sensitive
Gene description	cytosol alanyl aminopeptidase\|metalloproteinase MP100\|puromycin-sensitive aminopeptidase
Cytoband	17q21
Gene type	protein-coding
Synonymous	MIM:606793; HGNC:HGNC:7900; Ensembl:ENSG00000141279; HPRD:07366; Vega:OTTHUMG00000165471

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.514C>T; p.R172C; 17:47579485-47579485	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.745G>T; p.V249F; 17:47585596-47585596	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.745G>T; p.V249F; 17:47585596-47585596	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.745G>T; p.V249F; 17:47585596-47585596	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.745G>T; p.V249F; 17:47585596-47585596	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.183C>G; p.I61M; 17:47531483-47531483	thyroid	carcinoma	Substitution - Missense
c.1140G>A; p.W380*; 17:47590761-47590761	prostate	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1290T>C; p.D430D; 17:47591985-47591985	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.2245C>T; p.L749L; 17:47613675-47613675	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2559G>A; p.K853K; 17:47619164-47619164	breast	carcinoma	Substitution - coding silent
c.2315T>C; p.M772T; 17:47618369-47618369	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1187G>T; p.W396L; 17:47590808-47590808	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1193A>T; p.Q398L; 17:47590814-47590814	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1669C>G; p.L557V; 17:47601676-47601676	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2296C>G; p.L766V; 17:47618350-47618350	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2438T>C; p.I813T; 17:47619043-47619043	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.408T>G; p.T136T; 17:47569484-47569484	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2167G>A; p.E723K; 17:47612531-47612531	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1361A>T; p.D454V; 17:47592056-47592056	skin	malignant_melanoma	Substitution - Missense
c.1124A>T; p.E375V; 17:47590745-47590745	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1598T>C; p.V533A; 17:47599737-47599737	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1022C>T; p.S341L; 17:47587271-47587271	skin	malignant_melanoma	Substitution - Missense
c.2413C>T; p.R805C; 17:47619018-47619018	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2353G>A; p.A785T; 17:47618407-47618407	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1089T>G; p.V363V; 17:47587338-47587338	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.2227C>G; p.L743V; 17:47612591-47612591	breast	carcinoma	Substitution - Missense
c.854C>T; p.A285V; 17:47586152-47586152	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1062C>T; p.L354L; 17:47587311-47587311	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - coding silent
c.1062C>T; p.L354L; 17:47587311-47587311	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - coding silent
c.1062C>T; p.L354L; 17:47587311-47587311	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.1062C>T; p.L354L; 17:47587311-47587311	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.1062C>T; p.L354L; 17:47587311-47587311	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - coding silent
c.1062C>T; p.L354L; 17:47587311-47587311	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.1062C>T; p.L354L; 17:47587311-47587311	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - coding silent
c.1318A>G; p.K440E; 17:47592013-47592013	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.540+2T>C; p.?; 17:47579513-47579513	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.2021A>T; p.E674V; 17:47605478-47605478	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1362T>A; p.D454E; 17:47592057-47592057	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.162G>C; p.L54L; 17:47531462-47531462	thyroid	other; neoplasm	Substitution - coding silent
c.2088T>C; p.P696P; 17:47605545-47605545	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.489A>G; p.K163K; 17:47579460-47579460	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.356G>A; p.G119E; 17:47569432-47569432	liver	carcinoma	Substitution - Missense
c.2521C>A; p.R841R; 17:47619126-47619126	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - coding silent
c.409C>A; p.L137M; 17:47569485-47569485	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2717A>C; p.H906P; 17:47621877-47621877	breast	carcinoma	Substitution - Missense
c.2283T>C; p.D761D; 17:47613713-47613713	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.843G>A; p.A281A; 17:47585694-47585694	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2498A>G; p.D833G; 17:47619103-47619103	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1256T>C; p.I419T; 17:47590877-47590877	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1296A>T; p.I432I; 17:47591991-47591991	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - coding silent
c.2215C>T; p.L739F; 17:47612579-47612579	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2303A>C; p.K768T; 17:47618357-47618357	endometrium	carcinoma; serous_carcinoma	Substitution - Missense
c.1240G>C; p.D414H; 17:47590861-47590861	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1432C>A; p.L478I; 17:47596358-47596358	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.423G>A; p.T141T; 17:47579394-47579394	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.423G>A; p.T141T; 17:47579394-47579394	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.2087C>G; p.P696R; 17:47605544-47605544	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2020G>T; p.E674*; 17:47605477-47605477	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Nonsense
c.511G>T; p.V171L; 17:47579482-47579482	liver	carcinoma	Substitution - Missense
c.267G>A; p.A89A; 17:47545920-47545920	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2118G>A; p.R706R; 17:47612482-47612482	liver	carcinoma	Substitution - coding silent
c.2118G>A; p.R706R; 17:47612482-47612482	liver	carcinoma	Substitution - coding silent
c.1261-1G>C; p.?; 17:47591955-47591955	lung	carcinoma; adenocarcinoma	Unknown
c.1261-2A>G; p.?; 17:47591954-47591954	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Unknown
c.2332C>T; p.R778*; 17:47618386-47618386	large_intestine	adenoma	Substitution - Nonsense
c.2317C>T; p.Q773*; 17:47618371-47618371	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1337G>A; p.R446Q; 17:47592032-47592032	skin	malignant_melanoma	Substitution - Missense
c.1294A>G; p.I432V; 17:47591989-47591989	kidney	other; neoplasm	Substitution - Missense
c.1839G>T; p.V613V; 17:47604013-47604013	skin	malignant_melanoma	Substitution - coding silent
c.1298T>G; p.F433C; 17:47591993-47591993	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1298T>G; p.F433C; 17:47591993-47591993	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1298T>G; p.F433C; 17:47591993-47591993	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1298T>G; p.F433C; 17:47591993-47591993	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1298T>G; p.F433C; 17:47591993-47591993	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1298T>G; p.F433C; 17:47591993-47591993	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1298T>G; p.F433C; 17:47591993-47591993	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1298T>G; p.F433C; 17:47591993-47591993	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1298T>G; p.F433C; 17:47591993-47591993	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1298T>G; p.F433C; 17:47591993-47591993	breast	carcinoma	Substitution - Missense
c.965G>A; p.G322D; 17:47586383-47586383	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.965G>A; p.G322D; 17:47586383-47586383	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.965G>A; p.G322D; 17:47586383-47586383	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.965G>A; p.G322D; 17:47586383-47586383	breast	carcinoma	Substitution - Missense
c.965G>A; p.G322D; 17:47586383-47586383	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.965G>A; p.G322D; 17:47586383-47586383	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1237T>G; p.L413V; 17:47590858-47590858	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.653T>C; p.V218A; 17:47585504-47585504	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.82G>C; p.V28L; 17:47531382-47531382	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1466C>T; p.P489L; 17:47596392-47596392	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1158A>G; p.V386V; 17:47590779-47590779	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - coding silent
c.188A>G; p.Y63C; 17:47531488-47531488	skin; trunk	malignant_melanoma	Substitution - Missense
c.1862A>T; p.D621V; 17:47604036-47604036	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1365+2_1365+3insAAA; p.?; 17:47592062-47592063	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.2505G>T; p.W835C; 17:47619110-47619110	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2505G>T; p.W835C; 17:47619110-47619110	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2505G>T; p.W835C; 17:47619110-47619110	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2505G>T; p.W835C; 17:47619110-47619110	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2505G>T; p.W835C; 17:47619110-47619110	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2681A>G; p.N894S; 17:47621841-47621841	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.625G>A; p.D209N; 17:47582826-47582826	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.592G>A; p.A198T; 17:47582793-47582793	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1780A>T; p.S594C; 17:47603954-47603954	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1177T>G; p.Y393D; 17:47590798-47590798	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1886G>A; p.G629E; 17:47605343-47605343	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.733C>T; p.L245L; 17:47585584-47585584	oesophagus	carcinoma	Substitution - coding silent
c.2698C>T; p.R900*; 17:47621858-47621858	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Nonsense
c.1178_1180delATG; p.D394delD; 17:47590799-47590801	bone; humerus	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Deletion - In frame
c.219C>T; p.D73D; 17:47531519-47531519	thyroid	other; neoplasm	Substitution - coding silent
c.219C>T; p.D73D; 17:47531519-47531519	thyroid	other; neoplasm	Substitution - coding silent
c.219C>T; p.D73D; 17:47531519-47531519	thyroid	other; neoplasm	Substitution - coding silent
c.890A>G; p.N297S; 17:47586188-47586188	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1172C>T; p.P391L; 17:47590793-47590793	skin	malignant_melanoma	Substitution - Missense
c.1013C>G; p.S338C; 17:47587262-47587262	breast	carcinoma	Substitution - Missense
c.2197G>A; p.V733M; 17:47612561-47612561	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.118C>T; p.L40L; 17:47531418-47531418	breast	carcinoma	Substitution - coding silent
c.1835C>T; p.P612L; 17:47604009-47604009	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.988G>A; p.A330T; 17:47587237-47587237	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1393T>G; p.L465V; 17:47592512-47592512	kidney	other; neoplasm	Substitution - Missense
c.981-3C>T; p.?; 17:47587227-47587227	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Unknown
c.981-3C>T; p.?; 17:47587227-47587227	pancreas	carcinoma	Unknown
c.981-3C>T; p.?; 17:47587227-47587227	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Unknown
c.981-3C>T; p.?; 17:47587227-47587227	liver	carcinoma	Unknown
c.1311A>G; p.S437S; 17:47592006-47592006	liver	carcinoma	Substitution - coding silent
c.1311A>G; p.S437S; 17:47592006-47592006	liver	carcinoma	Substitution - coding silent
c.1816C>T; p.R606C; 17:47603990-47603990	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1171C>T; p.P391S; 17:47590792-47590792	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2495A>G; p.K832R; 17:47619100-47619100	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1269G>T; p.V423V; 17:47591964-47591964	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.2244T>A; p.Y748*; 17:47613674-47613674	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.266C>T; p.A89V; 17:47545919-47545919	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1984C>T; p.L662F; 17:47605441-47605441	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation