| Gene ID | 374907 |
| Symbol | B3GNT8 |
| Synonymous | B3GALT7|BGALT15|beta3Gn-T8 |
| Full name | UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8 |
| Gene description | BGnT-8|UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 7|beta galactosyltransferase BGALT15|beta-1,3-Gn-T8|beta-1,3-N-acetylglucosaminyltransferase 8|beta1,3-N-acetylglucosaminyltransferase 8 |
| Cytoband | 19q13.2 |
| Gene type | protein-coding |
| Synonymous | MIM:615357; HGNC:HGNC:24139; Ensembl:ENSG00000177191; HPRD:12510; Vega:OTTHUMG00000182749 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.105C>T; p.Y35Y; 19:41426674-41426674 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.496G>A; p.A166T; 19:41426283-41426283 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.503G>C; p.R168T; 19:41426276-41426276 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1189T>A; p.C397S; 19:41425590-41425590 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1091C>T; p.A364V; 19:41425688-41425688 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.770T>G; p.L257R; 19:41426009-41426009 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.715G>A; p.V239M; 19:41426064-41426064 |
breast | carcinoma | Substitution - Missense |
c.1084C>T; p.R362C; 19:41425695-41425695 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.12C>T; p.P4P; 19:41426767-41426767 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.529G>C; p.G177R; 19:41426250-41426250 |
cervix | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.534C>T; p.I178I; 19:41426245-41426245 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.347G>T; p.R116L; 19:41426432-41426432 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma | Substitution - Missense |
c.1109G>A; p.R370H; 19:41425670-41425670 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.792A>C; p.P264P; 19:41425987-41425987 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.72G>A; p.E24E; 19:41426707-41426707 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.974C>T; p.A325V; 19:41425805-41425805 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.309C>T; p.T103T; 19:41426470-41426470 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1135G>T; p.G379C; 19:41425644-41425644 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1190_1191insTG; p.*398fs?; 19:41425588-41425589 |
large_intestine | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.335C>A; p.P112H; 19:41426444-41426444 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1010C>T; p.T337I; 19:41425769-41425769 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.923delG; p.G308fs*>90; 19:41425856-41425856 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.73T>C; p.W25R; 19:41426706-41426706 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.490C>T; p.R164*; 19:41426289-41426289 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Nonsense |
c.880G>A; p.E294K; 19:41425899-41425899 |
skin | malignant_melanoma | Substitution - Missense |
c.346C>A; p.R116S; 19:41426433-41426433 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1087A>G; p.T363A; 19:41425692-41425692 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.535C>T; p.R179W; 19:41426244-41426244 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.138G>A; p.T46T; 19:41426641-41426641 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.138G>A; p.T46T; 19:41426641-41426641 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.1077A>G; p.P359P; 19:41425702-41425702 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4C>T; p.R2C; 19:41426775-41426775 |
prostate | carcinoma | Substitution - Missense |
c.57C>G; p.L19L; 19:41426722-41426722 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.491G>T; p.R164L; 19:41426288-41426288 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.621T>C; p.S207S; 19:41426158-41426158 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.600C>A; p.A200A; 19:41426179-41426179 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.763G>A; p.A255T; 19:41426016-41426016 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.499G>A; p.V167M; 19:41426280-41426280 |
kidney | carcinoma; renal_cell_carcinoma | Substitution - Missense |
c.295delG; p.A99fs*69; 19:41426484-41426484 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.295delG; p.A99fs*69; 19:41426484-41426484 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1122G>A; p.L374L; 19:41425657-41425657 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - coding silent |
c.92T>C; p.L31P; 19:41426687-41426687 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.725T>C; p.V242A; 19:41426054-41426054 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.304_306delGCC; p.A102delA; 19:41426473-41426475 |
peritoneum; appendix | other; pseudomyxoma_peritonei | Deletion - In frame |
c.409A>G; p.S137G; 19:41426370-41426370 |
breast | carcinoma | Substitution - Missense |
c.973G>T; p.A325S; 19:41425806-41425806 |
prostate | carcinoma | Substitution - Missense |
c.451C>T; p.L151L; 19:41426328-41426328 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.653C>G; p.P218R; 19:41426126-41426126 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |