| General information | Literature | Expression | Regulation | Mutation | Homolog | Interaction |
Basic Information | |
|---|---|
Gene ID | 27087 |
Name | B3GAT1 |
Synonymous | beta-1,3-glucuronyltransferase 1;B3GAT1;beta-1,3-glucuronyltransferase 1 |
Definition | LEU7 antigen|UDP-GlcUA:glycoprotein beta-1,3-glucuronyltransferase|galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 1|glcUAT-P|glucuronosyltransferase P |
Position | 11q25 |
Gene Type | protein-coding |
COSMIC somatic mutation [Top] | |||
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.739C>A; p.P247T; 11:134382889-134382889 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.174G>A; p.T58T; 11:134384127-134384127 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.384G>A; p.P128P; 11:134383917-134383917 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.316G>A; p.A106T; 11:134383985-134383985 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.708G>T; p.G236G; 11:134382920-134382920 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.616G>A; p.E206K; 11:134383685-134383685 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.676C>A; p.R226R; 11:134382952-134382952 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.922C>T; p.L308L; 11:134382021-134382021 |
skin | malignant_melanoma | Substitution - coding silent |
c.491C>G; p.P164R; 11:134383810-134383810 |
skin | malignant_melanoma | Substitution - Missense |
c.559C>T; p.Q187*; 11:134383742-134383742 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.716T>C; p.V239A; 11:134382912-134382912 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.862C>T; p.L288F; 11:134382766-134382766 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.161G>T; p.R54M; 11:134384140-134384140 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.691C>T; p.R231W; 11:134382937-134382937 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.490C>T; p.P164S; 11:134383811-134383811 |
skin | malignant_melanoma | Substitution - Missense |
c.278A>T; p.Y93F; 11:134384023-134384023 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.483A>G; p.P161P; 11:134383818-134383818 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.659_660CC>TT; p.A220V; 11:134382968-134382969 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.483A>G; p.P161P; 11:134383818-134383818 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.782A>G; p.N261S; 11:134382846-134382846 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.48C>T; p.P16P; 11:134387612-134387612 |
skin | malignant_melanoma | Substitution - coding silent |
c.374G>T; p.R125L; 11:134383927-134383927 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.374G>T; p.R125L; 11:134383927-134383927 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.993G>A; p.S331S; 11:134381950-134381950 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.231G>A; p.P77P; 11:134384070-134384070 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.579C>T; p.F193F; 11:134383722-134383722 |
skin | malignant_melanoma | Substitution - coding silent |
c.525C>T; p.R175R; 11:134383776-134383776 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.993G>A; p.S331S; 11:134381950-134381950 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - coding silent |
c.579C>T; p.F193F; 11:134383722-134383722 |
skin | malignant_melanoma | Substitution - coding silent |
c.241G>A; p.D81N; 11:134384060-134384060 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.405C>T; p.R135R; 11:134383896-134383896 |
soft_tissue; blood_vessel | angiosarcoma | Substitution - coding silent |
c.405C>T; p.R135R; 11:134383896-134383896 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.102G>A; p.A34A; 11:134387558-134387558 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.211T>C; p.Y71H; 11:134384090-134384090 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.466G>A; p.G156R; 11:134383835-134383835 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.287C>A; p.P96Q; 11:134384014-134384014 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.287C>A; p.P96Q; 11:134384014-134384014 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.471C>T; p.D157D; 11:134383830-134383830 |
cervix | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.4C>T; p.P2S; 11:134387656-134387656 |
skin | malignant_melanoma | Substitution - Missense |
c.481C>A; p.P161T; 11:134383820-134383820 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.432G>T; p.L144L; 11:134383869-134383869 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.308C>T; p.T103M; 11:134383993-134383993 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.472G>A; p.A158T; 11:134383829-134383829 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.788G>A; p.R263Q; 11:134382840-134382840 |
thyroid | carcinoma | Substitution - Missense |
c.615C>T; p.F205F; 11:134383686-134383686 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.472G>A; p.A158T; 11:134383829-134383829 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.189C>T; p.I63I; 11:134384112-134384112 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.686C>T; p.A229V; 11:134382942-134382942 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.323C>A; p.T108K; 11:134383978-134383978 |
breast | carcinoma | Substitution - Missense |
c.903A>T; p.A301A; 11:134382725-134382725 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.901G>A; p.A301T; 11:134382727-134382727 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.522G>A; p.L174L; 11:134383779-134383779 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.403C>T; p.R135C; 11:134383898-134383898 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.403C>T; p.R135C; 11:134383898-134383898 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.403C>T; p.R135C; 11:134383898-134383898 |
large_intestine; colon | carcinoma | Substitution - Missense |
c.403C>T; p.R135C; 11:134383898-134383898 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.372G>A; p.P124P; 11:134383929-134383929 |
oesophagus | carcinoma | Substitution - coding silent |
c.822G>A; p.K274K; 11:134382806-134382806 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.614T>A; p.F205Y; 11:134383687-134383687 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.59T>C; p.L20P; 11:134387601-134387601 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.682G>A; p.E228K; 11:134382946-134382946 |
skin | malignant_melanoma | Substitution - Missense |
c.148G>A; p.G50S; 11:134384153-134384153 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.207C>T; p.T69T; 11:134384094-134384094 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.391G>A; p.A131T; 11:134383910-134383910 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.425C>T; p.T142M; 11:134383876-134383876 |
pancreas | carcinoma | Substitution - Missense |
c.838G>A; p.G280R; 11:134382790-134382790 |
skin | malignant_melanoma | Substitution - Missense |
c.265G>T; p.V89L; 11:134384036-134384036 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.723G>A; p.W241*; 11:134382905-134382905 |
skin; acral | malignant_melanoma | Substitution - Nonsense |
c.298G>A; p.A100T; 11:134384003-134384003 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.955C>T; p.L319L; 11:134381988-134381988 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.589_591delGAC; p.D197delD; 11:134383710-134383712 |
lung | carcinoma; adenocarcinoma | Deletion - In frame |
c.31G>A; p.V11I; 11:134387629-134387629 |
pancreas | carcinoma | Substitution - Missense |
c.31G>A; p.V11I; 11:134387629-134387629 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.31G>A; p.V11I; 11:134387629-134387629 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.31G>A; p.V11I; 11:134387629-134387629 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.914C>T; p.T305I; 11:134382714-134382714 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.287C>T; p.P96L; 11:134384014-134384014 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.630C>T; p.S210S; 11:134382998-134382998 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.654C>T; p.P218P; 11:134382974-134382974 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.970A>T; p.K324*; 11:134381973-134381973 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.112+9G>T; p.?; 11:134387539-134387539 |
liver | carcinoma | Unknown |
c.112+9G>T; p.?; 11:134387539-134387539 |
liver | carcinoma | Unknown |
c.323C>T; p.T108M; 11:134383978-134383978 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.269C>T; p.T90M; 11:134384032-134384032 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.977G>T; p.G326V; 11:134381966-134381966 |
lung | carcinoma; bronchioloalveolar_adenocarcinoma | Substitution - Missense |
c.76C>A; p.Q26K; 11:134387584-134387584 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.343C>A; p.L115I; 11:134383958-134383958 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.223C>T; p.R75W; 11:134384078-134384078 |
ovary | other; neoplasm | Substitution - Missense |
c.484C>T; p.R162C; 11:134383817-134383817 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.882C>T; p.L294L; 11:134382746-134382746 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.803G>A; p.R268Q; 11:134382825-134382825 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.13C>T; p.R5W; 11:134387647-134387647 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.39C>T; p.I13I; 11:134387621-134387621 |
skin | malignant_melanoma | Substitution - coding silent |
c.644C>T; p.S215F; 11:134382984-134382984 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.13C>T; p.R5W; 11:134387647-134387647 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.13C>T; p.R5W; 11:134387647-134387647 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.136G>A; p.E46K; 11:134384165-134384165 |
skin | malignant_melanoma | Substitution - Missense |
c.447C>A; p.P149P; 11:134383854-134383854 |
prostate | carcinoma; adenocarcinoma | Substitution - coding silent |
c.499A>G; p.T167A; 11:134383802-134383802 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.30C>T; p.I10I; 11:134387630-134387630 |
breast | carcinoma | Substitution - coding silent |
c.53C>G; p.T18S; 11:134387607-134387607 |
liver | carcinoma | Substitution - Missense |
c.53C>G; p.T18S; 11:134387607-134387607 |
liver | carcinoma | Substitution - Missense |
c.377G>A; p.R126Q; 11:134383924-134383924 |
skin | malignant_melanoma | Substitution - Missense |
c.477C>T; p.R159R; 11:134383824-134383824 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.449G>A; p.R150H; 11:134383852-134383852 |
pancreas | carcinoma | Substitution - Missense |
c.476G>A; p.R159H; 11:134383825-134383825 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.460C>A; p.L154M; 11:134383841-134383841 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.223C>A; p.R75R; 11:134384078-134384078 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.144G>A; p.P48P; 11:134384157-134384157 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.32T>C; p.V11A; 11:134387628-134387628 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.463C>T; p.R155C; 11:134383838-134383838 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.3G>T; p.M1I; 11:134387657-134387657 |
pancreas | carcinoma | Substitution - Missense |
c.655G>A; p.V219I; 11:134382973-134382973 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.404G>A; p.R135H; 11:134383897-134383897 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.404G>A; p.R135H; 11:134383897-134383897 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.404G>A; p.R135H; 11:134383897-134383897 |
large_intestine | adenoma | Substitution - Missense |
c.371C>A; p.P124Q; 11:134383930-134383930 |
skin | malignant_melanoma | Substitution - Missense |
c.311G>A; p.R104H; 11:134383990-134383990 |
liver | carcinoma | Substitution - Missense |
c.311G>A; p.R104H; 11:134383990-134383990 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.311G>A; p.R104H; 11:134383990-134383990 |
liver | carcinoma | Substitution - Missense |
c.154G>A; p.D52N; 11:134384147-134384147 |
skin; extremity | malignant_melanoma | Substitution - Missense |
c.202C>T; p.R68C; 11:134384099-134384099 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.202C>T; p.R68C; 11:134384099-134384099 |
liver | carcinoma | Substitution - Missense |
c.380C>T; p.T127M; 11:134383921-134383921 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.88G>A; p.A30T; 11:134387572-134387572 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.393G>A; p.A131A; 11:134383908-134383908 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.492G>A; p.P164P; 11:134383809-134383809 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma | Substitution - coding silent |
c.938G>A; p.R313Q; 11:134382005-134382005 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.436G>A; p.V146M; 11:134383865-134383865 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.245C>T; p.T82M; 11:134384056-134384056 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |