Entrez Gene

Basic Information
Gene ID	10855
Name	HPSE

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
The somatic mutations from COSMIC database
c.232C>T; p.P78S; 4:83322360-83322360	skin	malignant_melanoma	Substitution - Missense
c.992A>G; p.E331G; 4:83308944-83308944	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1354C>T; p.L452L; 4:83301078-83301078	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.871G>C; p.D291H; 4:83310050-83310050	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1109G>T; p.G370V; 4:83306300-83306300	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.500-1G>A; p.?; 4:83313288-83313288	skin	malignant_melanoma	Unknown
c.417G>C; p.K139N; 4:83319426-83319426	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.989T>A; p.V330D; 4:83308947-83308947	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.351C>T; p.Y117Y; 4:83322241-83322241	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - coding silent
c.1420C>T; p.Q474*; 4:83301012-83301012	liver	carcinoma	Substitution - Nonsense
c.270G>A; p.A90A; 4:83322322-83322322	liver	carcinoma	Substitution - coding silent
c.270G>A; p.A90A; 4:83322322-83322322	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.965C>T; p.S322F; 4:83309421-83309421	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.871G>A; p.D291N; 4:83310050-83310050	skin	malignant_melanoma	Substitution - Missense
c.29C>T; p.P10L; 4:83334754-83334754	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.787C>A; p.L263I; 4:83310777-83310777	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1142T>A; p.M381K; 4:83306267-83306267	breast	carcinoma	Substitution - Missense
c.888T>C; p.H296H; 4:83310033-83310033	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1385A>G; p.K462R; 4:83301047-83301047	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.558T>A; p.F186L; 4:83313229-83313229	breast	carcinoma	Substitution - Missense
c.1055C>T; p.A352V; 4:83308881-83308881	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1055C>T; p.A352V; 4:83308881-83308881	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.313G>A; p.D105N; 4:83322279-83322279	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.765G>A; p.K255K; 4:83310799-83310799	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - coding silent
c.862G>T; p.E288*; 4:83310059-83310059	pancreas	carcinoma	Substitution - Nonsense
c.546G>A; p.L182L; 4:83313241-83313241	skin	malignant_melanoma	Substitution - coding silent
c.802G>A; p.V268I; 4:83310762-83310762	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.802G>A; p.V268I; 4:83310762-83310762	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1316A>T; p.N439I; 4:83302159-83302159	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.1549C>T; p.R517W; 4:83295427-83295427	prostate	carcinoma	Substitution - Missense
c.396C>T; p.I132I; 4:83319447-83319447	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.124G>A; p.D42N; 4:83334659-83334659	breast	carcinoma	Substitution - Missense
c.1411_1412insT; p.S471fs*2; 4:83301020-83301021	liver	carcinoma	Insertion - Frameshift
c.312C>T; p.F104F; 4:83322280-83322280	skin	malignant_melanoma	Substitution - coding silent
c.1498C>T; p.L500L; 4:83295478-83295478	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.374-1G>T; p.?; 4:83319470-83319470	oesophagus	carcinoma; adenocarcinoma	Unknown
c.1013A>G; p.K338R; 4:83308923-83308923	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.434C>T; p.P145L; 4:83319409-83319409	skin	malignant_melanoma	Substitution - Missense
c.578G>A; p.R193K; 4:83313209-83313209	bone; pelvis	chondrosarcoma	Substitution - Missense
c.1267G>A; p.V423M; 4:83302208-83302208	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.296C>T; p.T99I; 4:83322296-83322296	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1267G>A; p.V423M; 4:83302208-83302208	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1157T>G; p.F386C; 4:83306252-83306252	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1042T>C; p.Y348H; 4:83308894-83308894	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1587_1588delTA; p.Y529fs*1; 4:83295388-83295389	breast	carcinoma	Deletion - Frameshift
c.921G>A; p.K307K; 4:83309465-83309465	skin	malignant_melanoma	Substitution - coding silent
c.1244G>A; p.G415D; 4:83302231-83302231	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1438C>T; p.L480L; 4:83300994-83300994	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.388G>T; p.G130*; 4:83319455-83319455	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.272A>T; p.Y91F; 4:83322320-83322320	prostate	carcinoma	Substitution - Missense
c.940G>A; p.D314N; 4:83309446-83309446	urinary_tract; bladder	carcinoma	Substitution - Missense
c.940G>A; p.D314N; 4:83309446-83309446	NS	malignant_melanoma	Substitution - Missense
c.1283G>A; p.R428K; 4:83302192-83302192	urinary_tract; bladder	carcinoma	Substitution - Missense
c.744A>T; p.Q248H; 4:83310820-83310820	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1506G>C; p.M502I; 4:83295470-83295470	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.890A>G; p.H297R; 4:83310031-83310031	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.920A>G; p.K307R; 4:83309466-83309466	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.908G>A; p.R303Q; 4:83309478-83309478	pancreas	carcinoma	Substitution - Missense
c.1036T>C; p.S346P; 4:83308900-83308900	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.706T>G; p.F236V; 4:83310858-83310858	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.75C>T; p.S25S; 4:83334708-83334708	skin	malignant_melanoma	Substitution - coding silent
c.14C>G; p.S5W; 4:83334769-83334769	pancreas	carcinoma	Substitution - Missense
c.982C>T; p.Q328*; 4:83309404-83309404	skin	malignant_melanoma	Substitution - Nonsense
c.457C>A; p.R153R; 4:83319386-83319386	skin	malignant_melanoma	Substitution - coding silent
c.1099G>C; p.D367H; 4:83306310-83306310	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.720G>A; p.S240S; 4:83310844-83310844	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.782C>T; p.A261V; 4:83310782-83310782	ovary	other; neoplasm	Substitution - Missense
c.111C>T; p.D37D; 4:83334672-83334672	kidney	other; neoplasm	Substitution - coding silent
c.588T>C; p.D196D; 4:83313199-83313199	liver	carcinoma	Substitution - coding silent
c.683G>A; p.S228N; 4:83310881-83310881	skin	malignant_melanoma	Substitution - Missense
c.659G>T; p.W220L; 4:83313128-83313128	adrenal_gland; adrenal_gland	adrenal_cortical_carcinoma; functioning	Substitution - Missense
c.616T>C; p.L206L; 4:83313171-83313171	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.55G>A; p.G19R; 4:83334728-83334728	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1194C>T; p.F398F; 4:83306215-83306215	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1194C>T; p.F398F; 4:83306215-83306215	skin	malignant_melanoma	Substitution - coding silent
c.1194C>T; p.F398F; 4:83306215-83306215	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.757C>A; p.L253I; 4:83310807-83310807	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1194C>T; p.F398F; 4:83306215-83306215	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1194C>T; p.F398F; 4:83306215-83306215	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.803T>C; p.V268A; 4:83310761-83310761	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.497C>A; p.S166*; 4:83319346-83319346	skin	malignant_melanoma	Substitution - Nonsense
c.803T>C; p.V268A; 4:83310761-83310761	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.803T>C; p.V268A; 4:83310761-83310761	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.975_976insA; p.V326fs*6; 4:83309410-83309411	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.981C>G; p.F327L; 4:83309405-83309405	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.981C>G; p.F327L; 4:83309405-83309405	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1371C>T; p.L457L; 4:83301061-83301061	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.815G>A; p.R272Q; 4:83310749-83310749	skin	malignant_melanoma	Substitution - Missense
c.10C>A; p.R4S; 4:83334773-83334773	breast	carcinoma	Substitution - Missense
c.1122A>C; p.R374R; 4:83306287-83306287	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1576G>A; p.A526T; 4:83295400-83295400	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.843-1G>T; p.?; 4:83310079-83310079	breast	carcinoma	Unknown
c.1394G>A; p.R465Q; 4:83301038-83301038	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1288A>G; p.K430E; 4:83302187-83302187	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1288A>G; p.K430E; 4:83302187-83302187	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1039G>T; p.A347S; 4:83308897-83308897	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.158G>A; p.S53N; 4:83334625-83334625	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1202T>C; p.L401S; 4:83306207-83306207	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.1328C>G; p.P443R; 4:83301104-83301104	soft_tissue; blood_vessel	angiosarcoma	Substitution - Missense
c.569C>T; p.A190V; 4:83313218-83313218	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.569C>T; p.A190V; 4:83313218-83313218	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1393C>T; p.R465W; 4:83301039-83301039	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1393C>T; p.R465W; 4:83301039-83301039	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1393C>T; p.R465W; 4:83301039-83301039	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1406C>T; p.P469L; 4:83301026-83301026	skin	malignant_melanoma	Substitution - Missense
c.748C>A; p.H250N; 4:83310816-83310816	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.416A>G; p.K139R; 4:83319427-83319427	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.116T>A; p.V39E; 4:83334667-83334667	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense

The somatic mutations from COSMIC database