Entrez Gene

Basic Information
Gene ID	7378
Name	UPP1
Synonymous	uridine phosphorylase 1;UPP1;uridine phosphorylase 1
Definition	UPase 1\|urdPase 1
Position	7p12.3
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.322-1G>A; p.?; 7:48103296-48103296	stomach	carcinoma; adenocarcinoma	Unknown
c.94G>A; p.D32N; 7:48099719-48099719	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.137T>C; p.F46S; 7:48099762-48099762	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.734G>T; p.R245L; 7:48107448-48107448	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.619A>C; p.T207P; 7:48107055-48107055	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.188_189CC>TT; p.S63F; 7:48101849-48101850	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.552G>T; p.K184N; 7:48106988-48106988	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.334A>C; p.I112L; 7:48103309-48103309	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.701C>T; p.A234V; 7:48107415-48107415	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.499T>G; p.F167V; 7:48106935-48106935	thyroid	other; neoplasm	Substitution - Missense
c.691G>A; p.D231N; 7:48107405-48107405	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.519G>T; p.G173G; 7:48106955-48106955	skin	malignant_melanoma	Substitution - coding silent
c.727G>A; p.G243S; 7:48107441-48107441	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.219T>C; p.G73G; 7:48101880-48101880	ovary	other; neoplasm	Substitution - coding silent
c.823C>T; p.R275C; 7:48108247-48108247	breast	carcinoma	Substitution - Missense
c.823C>T; p.R275C; 7:48108247-48108247	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.27G>A; p.E9E; 7:48094810-48094810	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.83A>G; p.K28R; 7:48099708-48099708	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.515T>C; p.L172P; 7:48106951-48106951	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.709G>A; p.E237K; 7:48107423-48107423	urinary_tract; bladder	carcinoma	Substitution - Missense
c.709G>A; p.E237K; 7:48107423-48107423	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.687G>C; p.E229D; 7:48107401-48107401	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.594C>T; p.S198S; 7:48107030-48107030	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.111C>A; p.F37L; 7:48099736-48099736	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.71C>T; p.P24L; 7:48099696-48099696	skin	malignant_melanoma	Substitution - Missense
c.34G>A; p.E12K; 7:48094817-48094817	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.254A>C; p.Y85S; 7:48101915-48101915	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.774C>G; p.C258W; 7:48107488-48107488	breast	carcinoma	Substitution - Missense
c.191G>A; p.R64Q; 7:48101852-48101852	stomach	carcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiable	Substitution - Missense
c.191G>A; p.R64Q; 7:48101852-48101852	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.290T>C; p.M97T; 7:48101951-48101951	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.890G>A; p.R297Q; 7:48108314-48108314	large_intestine; colon	carcinoma	Substitution - Missense
c.890G>A; p.R297Q; 7:48108314-48108314	breast	carcinoma	Substitution - Missense
c.890G>A; p.R297Q; 7:48108314-48108314	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.853C>T; p.R285C; 7:48108277-48108277	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.523C>T; p.R175W; 7:48106959-48106959	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.761T>A; p.F254Y; 7:48107475-48107475	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.575T>C; p.L192P; 7:48107011-48107011	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.799G>T; p.V267L; 7:48108223-48108223	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.688A>G; p.K230E; 7:48107402-48107402	skin	malignant_melanoma	Substitution - Missense
c.885G>A; p.P295P; 7:48108309-48108309	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.680A>C; p.Y227S; 7:48107394-48107394	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.867C>T; p.S289S; 7:48108291-48108291	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.513C>T; p.V171V; 7:48106949-48106949	skin	malignant_melanoma	Substitution - coding silent
c.524G>A; p.R175Q; 7:48106960-48106960	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.160A>G; p.K54E; 7:48099785-48099785	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.58A>G; p.R20G; 7:48099683-48099683	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.630C>G; p.T210T; 7:48107066-48107066	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.517G>T; p.G173W; 7:48106953-48106953	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.213C>T; p.C71C; 7:48101874-48101874	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.430G>A; p.G144R; 7:48103405-48103405	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.330G>T; p.M110I; 7:48103305-48103305	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.413G>A; p.R138H; 7:48103388-48103388	breast	carcinoma	Substitution - Missense
c.293A>G; p.Y98C; 7:48101954-48101954	lung; middle_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.389G>T; p.R130L; 7:48103364-48103364	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.154G>A; p.D52N; 7:48099779-48099779	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense

COSMIC somatic mutation [Top]