Cancer metastasis database

Annotation category 5

Gene information

Gene ID 2683
Symbol

B4GALT1

Synonymous

B4GAL-T1|CDG2D|GGTB2|GT1|GTB|beta4Gal-T1

Full name

UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1

Gene description

UDP-Gal:beta-GlcNAc beta-1,4-galactosyltransferase 1|UDP-galactose:beta-N-acetylglucosamine beta-1,4-galactosyltransferase 1|beta-1,4-GalTase 1|beta-1,4-galactosyltransferase 1|glycoprotein-4-beta-galactosyltransferase 2|lactose synthase

Cytoband

9p13

Gene type

protein-coding

Synonymous

MIM:137060; HGNC:HGNC:924; Ensembl:ENSG00000086062; HPRD:00659; Vega:OTTHUMG00000019764

COSMIC somatic mutation

Mutation (CDS; AA; Chr)

Site

Histology

Mutation Type

c.247C>T; p.R83W; 9:33166923-33166923

 skin; trunkmalignant_melanomaSubstitution - Missense

c.1183G>A; p.G395R; 9:33113468-33113468

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.276C>T; p.S92S; 9:33166894-33166894

 skinmalignant_melanomaSubstitution - coding silent

c.988C>T; p.R330C; 9:33113850-33113850

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.195C>T; p.N65N; 9:33166975-33166975

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.195C>T; p.N65N; 9:33166975-33166975

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - coding silent

c.24G>A; p.L8L; 9:33167146-33167146

 skinmalignant_melanomaSubstitution - coding silent

c.216G>A; p.Q72Q; 9:33166954-33166954

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.875T>C; p.L292P; 9:33116075-33116075

 breastcarcinomaSubstitution - Missense

c.918T>G; p.N306K; 9:33116032-33116032

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.53C>T; p.S18F; 9:33167117-33167117

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.524C>A; p.P175H; 9:33135313-33135313

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.492C>T; p.G164G; 9:33135345-33135345

 central_nervous_system; braingliomaSubstitution - coding silent

c.559C>T; p.R187W; 9:33135278-33135278

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.1009A>G; p.R337G; 9:33113829-33113829

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.513C>T; p.D171D; 9:33135324-33135324

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.811G>A; p.V271I; 9:33120444-33120444

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1152C>T; p.Y384Y; 9:33113499-33113499

 skinmalignant_melanomaSubstitution - coding silent

c.1152C>T; p.Y384Y; 9:33113499-33113499

 skinmalignant_melanomaSubstitution - coding silent

c.671G>A; p.R224H; 9:33120584-33120584

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_leukaemiaSubstitution - Missense

c.1021A>G; p.I341V; 9:33113817-33113817

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1025G>A; p.R342H; 9:33113813-33113813

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.793C>A; p.Q265K; 9:33120462-33120462

 biliary_tract; gallbladdercarcinoma; adenocarcinomaSubstitution - Missense

c.777G>T; p.A259A; 9:33120478-33120478

 livercarcinomaSubstitution - coding silent

c.39G>T; p.A13A; 9:33167131-33167131

 stomachcarcinoma; diffuse_adenocarcinomaSubstitution - coding silent

c.444T>C; p.P148P; 9:33135393-33135393

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.483G>C; p.V161V; 9:33135354-33135354

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.17C>G; p.P6R; 9:33167153-33167153

 pancreascarcinomaSubstitution - Missense

c.1016G>A; p.R339H; 9:33113822-33113822

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.672T>C; p.R224R; 9:33120583-33120583

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.548C>T; p.P183L; 9:33135289-33135289

 breastcarcinomaSubstitution - Missense

c.575A>G; p.K192R; 9:33135262-33135262

 haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; follicular_lymphomaSubstitution - Missense

c.575A>G; p.K192R; 9:33135262-33135262

 haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.922T>A; p.W308R; 9:33116028-33116028

 pancreaspancreatic_intraepithelial_neoplasia_(PanIN)Substitution - Missense

c.1005C>T; p.V335V; 9:33113833-33113833

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1047T>C; p.N349N; 9:33113791-33113791

 stomachadenocarcinomaSubstitution - coding silent

c.533T>G; p.V178G; 9:33135304-33135304

 breastcarcinomaSubstitution - Missense

c.959+2T>C; p.?; 9:33115989-33115989

 stomachcarcinoma; intestinal_adenocarcinomaUnknown

c.702A>C; p.E234D; 9:33120553-33120553

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.549A>G; p.P183P; 9:33135288-33135288

 breastcarcinomaSubstitution - coding silent

c.23T>G; p.L8R; 9:33167147-33167147

 thyroidother; neoplasmSubstitution - Missense

c.331G>A; p.A111T; 9:33166839-33166839

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.650C>T; p.A217V; 9:33120605-33120605

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.389G>T; p.C130F; 9:33166781-33166781

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1020G>T; p.M340I; 9:33113818-33113818

 autonomic_ganglianeuroblastomaSubstitution - Missense

c.554G>A; p.R185H; 9:33135283-33135283

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.554G>A; p.R185H; 9:33135283-33135283

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.790delT; p.S264fs*29; 9:33120465-33120465

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.82G>T; p.A28S; 9:33167088-33167088

 prostatecarcinomaSubstitution - Missense

c.289G>T; p.G97C; 9:33166881-33166881

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.356T>A; p.V119E; 9:33166814-33166814

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.218C>G; p.S73C; 9:33166952-33166952

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.391C>T; p.P131S; 9:33166779-33166779

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasmSubstitution - Missense

c.391C>T; p.P131S; 9:33166779-33166779

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.92C>T; p.A31V; 9:33167078-33167078

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1065-3T>C; p.?; 9:33113589-33113589

 ovaryother; neoplasmUnknown

c.695T>C; p.F232S; 9:33120560-33120560

 skinmalignant_melanomaSubstitution - Missense

c.1191G>A; p.P397P; 9:33113460-33113460

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.810C>T; p.S270S; 9:33120445-33120445

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent