Entrez Gene

Basic Information
Gene ID	5660
Name	PSAP
Synonymous	prosaposin;PSAP;prosaposin
Definition	proactivator polypeptide\|sphingolipid activator protein-1
Position	10q21-q22
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.714C>T; p.A238A; 10:71828020-71828020	thyroid	carcinoma	Substitution - coding silent
c.996_998delCAA; p.N332delN; 10:71820247-71820249	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - In frame
c.695G>A; p.R232H; 10:71828039-71828039	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.380G>T; p.R127L; 10:71829073-71829073	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.895G>T; p.V299L; 10:71821890-71821890	prostate	adenoma	Substitution - Missense
c.1050G>T; p.P350P; 10:71819856-71819856	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.54G>A; p.P18P; 10:71834492-71834492	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.145C>T; p.L49L; 10:71834401-71834401	skin	malignant_melanoma	Substitution - coding silent
c.190G>A; p.D64N; 10:71831905-71831905	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1258G>T; p.D420Y; 10:71819557-71819557	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1173G>T; p.T391T; 10:71819733-71819733	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.657C>T; p.V219V; 10:71828077-71828077	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.886C>T; p.L296L; 10:71821899-71821899	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.1533G>T; p.Q511H; 10:71818623-71818623	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.240T>C; p.N80N; 10:71831855-71831855	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.375+1G>A; p.?; 10:71831125-71831125	skin	malignant_melanoma	Unknown
c.778-5T>A; p.?; 10:71822012-71822012	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Unknown
c.1411G>T; p.D471Y; 10:71819051-71819051	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.864C>T; p.A288A; 10:71821921-71821921	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.271G>A; p.E91K; 10:71831230-71831230	skin; face	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1288C>A; p.Q430K; 10:71819527-71819527	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1406T>C; p.V469A; 10:71819056-71819056	ovary	other; neoplasm	Substitution - Missense
c.1061C>T; p.S354L; 10:71819845-71819845	liver	carcinoma	Substitution - Missense
c.1061C>T; p.S354L; 10:71819845-71819845	liver	carcinoma	Substitution - Missense
c.325A>G; p.I109V; 10:71831176-71831176	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.370G>T; p.E124*; 10:71831131-71831131	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.154G>A; p.V52I; 10:71834392-71834392	pancreas	carcinoma	Substitution - Missense
c.1293G>A; p.E431E; 10:71819522-71819522	breast	carcinoma	Substitution - coding silent
c.154G>A; p.V52I; 10:71834392-71834392	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.1261C>T; p.R421C; 10:71819554-71819554	skin	malignant_melanoma	Substitution - Missense
c.517G>A; p.A173T; 10:71828936-71828936	prostate	carcinoma	Substitution - Missense
c.1047G>T; p.L349L; 10:71819859-71819859	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.49G>T; p.G17C; 10:71834497-71834497	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.213C>T; p.T71T; 10:71831882-71831882	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.1198G>A; p.V400M; 10:71819617-71819617	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.213C>T; p.T71T; 10:71831882-71831882	pancreas	carcinoma	Substitution - coding silent
c.442C>T; p.L148L; 10:71829011-71829011	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1559G>A; p.R520H; 10:71817457-71817457	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1559G>A; p.R520H; 10:71817457-71817457	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1463C>T; p.P488L; 10:71818693-71818693	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.415G>A; p.E139K; 10:71829038-71829038	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.432C>T; p.H144H; 10:71829021-71829021	skin	malignant_melanoma	Substitution - coding silent
c.1146C>T; p.C382C; 10:71819760-71819760	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.880C>A; p.P294T; 10:71821905-71821905	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.881C>A; p.P294H; 10:71821904-71821904	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.222T>C; p.G74G; 10:71831873-71831873	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.577G>C; p.D193H; 10:71828157-71828157	liver	carcinoma	Substitution - Missense
c.577G>C; p.D193H; 10:71828157-71828157	liver	carcinoma	Substitution - Missense
c.296A>C; p.K99T; 10:71831205-71831205	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1297C>A; p.L433M; 10:71819518-71819518	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.430delC; p.H144fs*2; 10:71829023-71829023	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.853G>A; p.A285T; 10:71821932-71821932	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.184C>T; p.P62S; 10:71831911-71831911	skin	malignant_melanoma	Substitution - Missense
c.634G>C; p.V212L; 10:71828100-71828100	lung; middle_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.514A>G; p.M172V; 10:71828939-71828939	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1528G>A; p.A510T; 10:71818628-71818628	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1093G>A; p.G365S; 10:71819813-71819813	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.379C>T; p.R127C; 10:71829074-71829074	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1062G>T; p.S354S; 10:71819844-71819844	liver	carcinoma	Substitution - coding silent
c.1062G>T; p.S354S; 10:71819844-71819844	liver	carcinoma	Substitution - coding silent
c.511T>G; p.F171V; 10:71828942-71828942	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1042A>T; p.K348*; 10:71819864-71819864	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.972G>A; p.E324E; 10:71820273-71820273	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.714C>G; p.A238A; 10:71828020-71828020	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.126C>T; p.C42C; 10:71834420-71834420	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1259A>T; p.D420V; 10:71819556-71819556	liver	carcinoma	Substitution - Missense
c.1259A>T; p.D420V; 10:71819556-71819556	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1259A>T; p.D420V; 10:71819556-71819556	liver	carcinoma	Substitution - Missense
c.1197C>T; p.H399H; 10:71819618-71819618	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.715G>A; p.D239N; 10:71828019-71828019	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.904A>G; p.I302V; 10:71821881-71821881	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1443C>T; p.A481A; 10:71818713-71818713	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.882T>C; p.P294P; 10:71821903-71821903	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.510C>T; p.P170P; 10:71828943-71828943	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.918G>T; p.E306D; 10:71820327-71820327	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1281C>T; p.S427S; 10:71819534-71819534	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.589G>A; p.V197I; 10:71828145-71828145	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.880C>T; p.P294S; 10:71821905-71821905	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.639G>A; p.R213R; 10:71828095-71828095	skin	malignant_melanoma	Substitution - coding silent
c.624C>G; p.I208M; 10:71828110-71828110	pancreas	carcinoma	Substitution - Missense
c.866C>A; p.S289Y; 10:71821919-71821919	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1182T>A; p.P394P; 10:71819724-71819724	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1423G>A; p.V475M; 10:71819039-71819039	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1088C>T; p.T363M; 10:71819818-71819818	pancreas	carcinoma	Substitution - Missense
c.1438G>A; p.G480R; 10:71818718-71818718	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.48C>T; p.A16A; 10:71834498-71834498	breast	carcinoma	Substitution - coding silent
c.117G>A; p.A39A; 10:71834429-71834429	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent

COSMIC somatic mutation [Top]