Entrez Gene

Basic Information
Gene ID	1509
Name	CTSD
Synonymous	cathepsin D;CTSD;cathepsin D
Definition	ceroid-lipofuscinosis, neuronal 10\|epididymis secretory sperm binding protein Li 130P\|lysosomal aspartyl peptidase\|lysosomal aspartyl protease
Position	11p15.5
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.883G>A; p.D295N; 11:1754083-1754083	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.910C>G; p.P304A; 11:1754056-1754056	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1149G>T; p.W383C; 11:1753593-1753593	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1178A>G; p.Y393C; 11:1753564-1753564	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1178A>G; p.Y393C; 11:1753564-1753564	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1178A>G; p.Y393C; 11:1753564-1753564	large_intestine; colon	carcinoma	Substitution - Missense
c.1178A>G; p.Y393C; 11:1753564-1753564	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.91T>C; p.S31P; 11:1761446-1761446	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.511G>A; p.G171S; 11:1757517-1757517	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.460G>A; p.D154N; 11:1758980-1758980	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1139G>T; p.G380V; 11:1753603-1753603	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1139G>T; p.G380V; 11:1753603-1753603	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.1218C>T; p.F406F; 11:1753524-1753524	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1174C>T; p.R392C; 11:1753568-1753568	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1174C>T; p.R392C; 11:1753568-1753568	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.633G>A; p.V211V; 11:1757395-1757395	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.149G>A; p.G50D; 11:1761388-1761388	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1011G>T; p.A337A; 11:1753863-1753863	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.926G>A; p.R309H; 11:1754040-1754040	pancreas	carcinoma	Substitution - Missense
c.956C>T; p.P319L; 11:1754010-1754010	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.272G>A; p.C91Y; 11:1759596-1759596	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1230C>T; p.A410A; 11:1753512-1753512	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.300C>T; p.S100S; 11:1759568-1759568	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.89C>T; p.T30M; 11:1761448-1761448	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.268delC; p.Q90fs*43; 11:1759600-1759600	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.268delC; p.Q90fs*43; 11:1759600-1759600	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.611C>T; p.P204L; 11:1757417-1757417	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.268delC; p.Q90fs*43; 11:1759600-1759600	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1105G>A; p.G369S; 11:1753637-1753637	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1105G>A; p.G369S; 11:1753637-1753637	breast	carcinoma	Substitution - Missense
c.803C>T; p.A268V; 11:1754930-1754930	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.796C>T; p.R266C; 11:1754937-1754937	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.796C>T; p.R266C; 11:1754937-1754937	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.371A>G; p.N124S; 11:1759069-1759069	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.260C>T; p.T87M; 11:1759608-1759608	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.790G>A; p.V264I; 11:1754943-1754943	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.154G>T; p.V52F; 11:1761383-1761383	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.263C>T; p.P88L; 11:1759605-1759605	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.375C>T; p.S125S; 11:1759065-1759065	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.665A>G; p.K222R; 11:1757363-1757363	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.876C>A; p.A292A; 11:1754090-1754090	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.229G>A; p.A77T; 11:1759639-1759639	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.466G>A; p.V156M; 11:1758974-1758974	large_intestine; colon	carcinoma	Substitution - Missense
c.466G>A; p.V156M; 11:1758974-1758974	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.154G>A; p.V52I; 11:1761383-1761383	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.154G>A; p.V52I; 11:1761383-1761383	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.154G>A; p.V52I; 11:1761383-1761383	urinary_tract; bladder	carcinoma	Substitution - Missense
c.100C>T; p.R34W; 11:1761437-1761437	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.728delG; p.G243fs*3; 11:1755005-1755005	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.28G>A; p.A10T; 11:1763832-1763832	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.725G>A; p.G242E; 11:1755008-1755008	skin	malignant_melanoma	Substitution - Missense
c.282C>T; p.V94V; 11:1759586-1759586	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1062C>T; p.Y354Y; 11:1753812-1753812	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1125C>T; p.I375I; 11:1753617-1753617	skin	malignant_melanoma	Substitution - coding silent
c.897C>T; p.S299S; 11:1754069-1754069	skin	malignant_melanoma	Substitution - coding silent
c.533T>G; p.V178G; 11:1757495-1757495	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.699G>C; p.L233L; 11:1757329-1757329	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.699G>C; p.L233L; 11:1757329-1757329	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent
c.72C>T; p.I24I; 11:1761465-1761465	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1232G>A; p.R411H; 11:1753510-1753510	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1075T>C; p.S359P; 11:1753667-1753667	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.661C>G; p.Q221E; 11:1757367-1757367	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1232G>A; p.R411H; 11:1753510-1753510	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.843C>G; p.S281R; 11:1754123-1754123	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1129C>A; p.P377T; 11:1753613-1753613	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.574G>A; p.A192T; 11:1757454-1757454	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.268_269insC; p.Q90fs*50; 11:1759599-1759600	large_intestine; caecum	carcinoma; adenocarcinoma	Insertion - Frameshift
c.503C>T; p.A168V; 11:1757525-1757525	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.182C>T; p.A61V; 11:1761355-1761355	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.510C>T; p.G170G; 11:1757518-1757518	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.816C>T; p.V272V; 11:1754917-1754917	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.964C>T; p.Q322*; 11:1754002-1754002	skin	malignant_melanoma	Substitution - Nonsense
c.1077G>A; p.S359S; 11:1753665-1753665	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1128G>A; p.P376P; 11:1753614-1753614	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.261G>A; p.T87T; 11:1759607-1759607	stomach	carcinoma; adenocarcinoma	Substitution - coding silent

COSMIC somatic mutation [Top]