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	9476
Symbol	NAPSA
Synonymous	KAP\|Kdap\|NAP1\|NAPA\|SNAPA
Full name	napsin A aspartic peptidase
Gene description	ASP4\|CTB-191K22.6\|TA01/TA02\|asp 4\|aspartyl protease 4\|kidney-derived aspartic protease-like protein\|napsin-1\|napsin-A\|pronapsin A
Cytoband	19q13.33
Gene type	protein-coding
Synonymous	MIM:605631; HGNC:HGNC:13395; Ensembl:ENSG00000131400; HPRD:07064; Vega:OTTHUMG00000183035

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.892G>A; p.A298T; 19:50359547-50359547	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.719C>T; p.P240L; 19:50359812-50359812	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.709G>A; p.G237S; 19:50359822-50359822	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.306C>G; p.L102L; 19:50362012-50362012	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.850A>G; p.T284A; 19:50359589-50359589	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1230G>A; p.W410*; 19:50358586-50358586	skin; extremity	malignant_melanoma	Substitution - Nonsense
c.185G>A; p.G62E; 19:50362212-50362212	skin	malignant_melanoma	Substitution - Missense
c.1159C>T; p.R387C; 19:50358657-50358657	stomach	adenocarcinoma	Substitution - Missense
c.1257delC; p.*421fs?; 19:50358559-50358559	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.702C>T; p.V234V; 19:50359829-50359829	skin	malignant_melanoma	Substitution - coding silent
c.433C>T; p.R145W; 19:50361698-50361698	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.720G>A; p.P240P; 19:50359811-50359811	large_intestine; colon	adenoma	Substitution - coding silent
c.245T>C; p.I82T; 19:50362073-50362073	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.996G>A; p.G332G; 19:50359050-50359050	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.352T>C; p.L118L; 19:50361779-50361779	skin	malignant_melanoma	Substitution - coding silent
c.1030A>G; p.I344V; 19:50359016-50359016	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.995G>A; p.G332E; 19:50359051-50359051	skin	malignant_melanoma	Substitution - Missense
c.1026C>T; p.Y342Y; 19:50359020-50359020	liver	carcinoma	Substitution - coding silent
c.287A>G; p.D96G; 19:50362031-50362031	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.81C>T; p.I27I; 19:50365541-50365541	skin	malignant_melanoma	Substitution - coding silent
c.606G>A; p.P202P; 19:50361003-50361003	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1229G>T; p.W410L; 19:50358587-50358587	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1212C>T; p.R404R; 19:50358604-50358604	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.613G>A; p.V205I; 19:50360996-50360996	central_nervous_system; brain	glioma	Substitution - Missense
c.253G>T; p.G85*; 19:50362065-50362065	breast	carcinoma	Substitution - Nonsense
c.119T>C; p.I40T; 19:50362278-50362278	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.119T>C; p.I40T; 19:50362278-50362278	upper_aerodigestive_tract; tonsil	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.535G>A; p.A179T; 19:50361074-50361074	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1027G>A; p.V343I; 19:50359019-50359019	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.13C>T; p.P5S; 19:50365609-50365609	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1013C>T; p.T338M; 19:50359033-50359033	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.936+8C>T; p.?; 19:50359495-50359495	pancreas	carcinoma	Unknown
c.936+8C>T; p.?; 19:50359495-50359495	pancreas	carcinoma	Unknown
c.362G>A; p.R121Q; 19:50361769-50361769	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.362G>A; p.R121Q; 19:50361769-50361769	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.362G>A; p.R121Q; 19:50361769-50361769	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.806C>A; p.P269Q; 19:50359633-50359633	skin; ear	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.747C>T; p.F249F; 19:50359784-50359784	skin	malignant_melanoma	Substitution - coding silent
c.71C>A; p.A24D; 19:50365551-50365551	pancreas	carcinoma	Substitution - Missense
c.1191C>T; p.G397G; 19:50358625-50358625	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.25C>T; p.P9S; 19:50365597-50365597	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.94C>A; p.H32N; 19:50362303-50362303	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1245G>A; p.Q415Q; 19:50358571-50358571	skin; head_neck	malignant_melanoma; superficial_spreading	Substitution - coding silent
c.791G>A; p.R264H; 19:50359740-50359740	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.765T>C; p.P255P; 19:50359766-50359766	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.998_999insG; p.W334fs*3; 19:50359047-50359048	stomach	carcinoma; intestinal_adenocarcinoma	Insertion - Frameshift
c.765T>C; p.P255P; 19:50359766-50359766	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.665A>G; p.N222S; 19:50360944-50360944	salivary_gland	carcinoma; adenoid_cystic_carcinoma	Substitution - Missense
c.765T>C; p.P255P; 19:50359766-50359766	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.998_999insG; p.W334fs*3; 19:50359047-50359048	stomach	adenocarcinoma	Insertion - Frameshift
c.675T>C; p.P225P; 19:50359856-50359856	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.313C>T; p.P105S; 19:50362005-50362005	skin	malignant_melanoma	Substitution - Missense
c.1032C>A; p.I344I; 19:50359014-50359014	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.610G>A; p.D204N; 19:50360999-50360999	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.75A>G; p.T25T; 19:50365547-50365547	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1043G>A; p.R348Q; 19:50358773-50358773	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.502G>A; p.G168R; 19:50361107-50361107	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.599G>A; p.R200Q; 19:50361010-50361010	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.174C>A; p.A58A; 19:50362223-50362223	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.1091C>A; p.P364H; 19:50358725-50358725	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.972C>T; p.P324P; 19:50359074-50359074	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.972C>T; p.P324P; 19:50359074-50359074	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.234T>C; p.Y78Y; 19:50362084-50362084	kidney	other; neoplasm	Substitution - coding silent
c.1117C>T; p.L373F; 19:50358699-50358699	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.559T>C; p.L187L; 19:50361050-50361050	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.198C>A; p.I66I; 19:50362199-50362199	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.836C>T; p.A279V; 19:50359603-50359603	thyroid	carcinoma; anaplastic_carcinoma	Substitution - Missense
c.803G>A; p.G268D; 19:50359636-50359636	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.798G>A; p.K266K; 19:50359641-50359641	breast	carcinoma	Substitution - coding silent
c.1210C>T; p.R404C; 19:50358606-50358606	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.386C>T; p.S129F; 19:50361745-50361745	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.386C>T; p.S129F; 19:50361745-50361745	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.592G>A; p.G198R; 19:50361017-50361017	skin	malignant_melanoma	Substitution - Missense
c.328delC; p.H110fs*37; 19:50361990-50361990	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Deletion - Frameshift
c.790C>T; p.R264C; 19:50359741-50359741	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1077G>C; p.Q359H; 19:50358739-50358739	urinary_tract; bladder	carcinoma	Substitution - Missense
c.534C>T; p.F178F; 19:50361075-50361075	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.434G>A; p.R145Q; 19:50361697-50361697	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1161C>T; p.R387R; 19:50358655-50358655	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.582G>T; p.L194L; 19:50361027-50361027	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.598C>T; p.R200W; 19:50361011-50361011	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.238G>A; p.G80R; 19:50362080-50362080	skin	malignant_melanoma	Substitution - Missense
c.598C>T; p.R200W; 19:50361011-50361011	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.817C>A; p.L273I; 19:50359622-50359622	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.912G>T; p.G304G; 19:50359527-50359527	lung	carcinoma; adenocarcinoma	Substitution - coding silent

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation