Entrez Gene

Basic Information
Gene ID	7357
Name	UGCG
Synonymous	UDP-glucose ceramide glucosyltransferase;UGCG;UDP-glucose ceramide glucosyltransferase
Definition	UDP-glucose:N-acylsphingosine D-glucosyltransferase\|ceramide glucosyltransferase\|glucosylceramide synthase
Position	9q31
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.742T>C; p.W248R; 9:111931275-111931275	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1088delT; p.L365fs*9; 9:111932900-111932900	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1088delT; p.L365fs*9; 9:111932900-111932900	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1088delT; p.L365fs*9; 9:111932900-111932900	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1088delT; p.L365fs*9; 9:111932900-111932900	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.691C>T; p.Q231*; 9:111929632-111929632	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1149C>T; p.R383R; 9:111932961-111932961	skin	malignant_melanoma	Substitution - coding silent
c.1142G>C; p.R381T; 9:111932954-111932954	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1087A>G; p.I363V; 9:111932899-111932899	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.443G>C; p.R148T; 9:111924876-111924876	NS	NS	Substitution - Missense
c.763C>G; p.Q255E; 9:111931296-111931296	thyroid	other; neoplasm	Substitution - Missense
c.1147C>T; p.R383C; 9:111932959-111932959	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1138T>A; p.Y380N; 9:111932950-111932950	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.79T>G; p.F27V; 9:111897294-111897294	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.947_948TG>AT; p.M316>?; 9:111932292-111932293	lung	carcinoma; adenocarcinoma	Complex
c.924C>T; p.H308H; 9:111932269-111932269	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.415C>A; p.L139I; 9:111924848-111924848	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1042_1043insAT; p.Y349fs*12; 9:111932854-111932855	skin; scalp	malignant_melanoma	Insertion - Frameshift
c.10C>T; p.L4L; 9:111897225-111897225	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.240A>T; p.K80N; 9:111914746-111914746	kidney	other; neoplasm	Substitution - Missense
c.253C>T; p.L85F; 9:111922861-111922861	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.800C>T; p.S267F; 9:111931333-111931333	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.800C>A; p.S267Y; 9:111931333-111931333	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1042G>C; p.D348H; 9:111932854-111932854	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.861A>G; p.T287T; 9:111932206-111932206	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.861A>G; p.T287T; 9:111932206-111932206	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.861A>G; p.T287T; 9:111932206-111932206	thyroid	other; neoplasm	Substitution - coding silent
c.1153delG; p.G386fs*7; 9:111932965-111932965	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1153delG; p.G386fs*7; 9:111932965-111932965	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.361A>G; p.I121V; 9:111924794-111924794	liver	carcinoma	Substitution - Missense
c.1067G>A; p.R356H; 9:111932879-111932879	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.767T>C; p.V256A; 9:111931300-111931300	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1045T>C; p.Y349H; 9:111932857-111932857	skin	malignant_melanoma	Substitution - Missense
c.244G>C; p.E82Q; 9:111922852-111922852	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1037A>G; p.K346R; 9:111932849-111932849	skin	malignant_melanoma	Substitution - Missense
c.725C>A; p.A242E; 9:111929666-111929666	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.555G>T; p.E185D; 9:111926493-111926493	skin	malignant_melanoma	Substitution - Missense
c.332_335delGATT; p.R111fs*3; 9:111922940-111922943	adrenal_gland; adrenal_gland	adrenal_cortical_carcinoma; functioning	Deletion - Frameshift
c.737G>A; p.R246Q; 9:111929678-111929678	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.847A>G; p.M283V; 9:111932192-111932192	liver	carcinoma	Substitution - Missense
c.1100C>T; p.A367V; 9:111932912-111932912	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.726G>A; p.A242A; 9:111929667-111929667	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.1015-2A>T; p.?; 9:111932825-111932825	stomach	carcinoma; intestinal_adenocarcinoma	Unknown
c.725C>T; p.A242V; 9:111929666-111929666	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.647G>A; p.R216K; 9:111929588-111929588	urinary_tract; bladder	carcinoma	Substitution - Missense
c.349delA; p.V119fs*10; 9:111924782-111924782	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.697A>T; p.I233F; 9:111929638-111929638	kidney	other; neoplasm	Substitution - Missense
c.1015G>T; p.G339C; 9:111932827-111932827	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.628G>T; p.G210*; 9:111929569-111929569	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.141T>C; p.Y47Y; 9:111914647-111914647	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.141T>C; p.Y47Y; 9:111914647-111914647	liver	carcinoma	Substitution - coding silent
c.219C>A; p.F73L; 9:111914725-111914725	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.594C>A; p.I198I; 9:111929535-111929535	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1044T>C; p.D348D; 9:111932856-111932856	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.1153_1154insG; p.T387fs*>9; 9:111932965-111932966	stomach	adenocarcinoma	Insertion - Frameshift
c.1172T>C; p.I391T; 9:111932984-111932984	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.458C>T; p.T153M; 9:111926396-111926396	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.488A>G; p.E163G; 9:111926426-111926426	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.488A>G; p.E163G; 9:111926426-111926426	urinary_tract; bladder	carcinoma	Substitution - Missense
c.226T>A; p.L76M; 9:111914732-111914732	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.392G>T; p.G131V; 9:111924825-111924825	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.244G>T; p.E82*; 9:111922852-111922852	central_nervous_system; thalamus	glioma; oligodendroglioma_Grade_III	Substitution - Nonsense
c.769G>C; p.A257P; 9:111931302-111931302	breast	carcinoma	Substitution - Missense
c.121G>A; p.A41T; 9:111914627-111914627	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.945T>G; p.I315M; 9:111932290-111932290	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense

COSMIC somatic mutation [Top]