| General information | Literature | Expression | Regulation | Mutation | Homolog | Interaction |
Basic Information | |
|---|---|
Gene ID | 2651 |
Name | GCNT2 |
Synonymous | glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group);GCNT2;glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group) |
Definition | I beta-1,6-N-acetylglucosaminyltransferase|Ii blood group|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase|beta-1,6-N-acetylglucosaminyltransferase 2 |
Position | 6p24.2 |
Gene Type | protein-coding |
COSMIC somatic mutation [Top] | |||
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.43A>T; p.S15C; 6:10556466-10556466 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.43A>T; p.S15C; 6:10556466-10556466 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1019A>G; p.Y340C; 6:10626423-10626423 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.88G>A; p.D30N; 6:10556511-10556511 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.459G>T; p.K153N; 6:10556882-10556882 |
thyroid | other; neoplasm | Substitution - Missense |
c.918A>T; p.P306P; 6:10557341-10557341 |
breast | carcinoma | Substitution - coding silent |
c.586delA; p.T197fs*5; 6:10557009-10557009 |
stomach | adenocarcinoma | Deletion - Frameshift |
c.300C>A; p.V100V; 6:10556723-10556723 |
thyroid | other; neoplasm | Substitution - coding silent |
c.1167G>T; p.Q389H; 6:10626571-10626571 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.376G>A; p.V126M; 6:10556799-10556799 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1169G>A; p.S390N; 6:10626573-10626573 |
liver | carcinoma | Substitution - Missense |
c.195G>T; p.M65I; 6:10556618-10556618 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1113delC; p.T374fs*5; 6:10626517-10626517 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.240C>G; p.H80Q; 6:10556663-10556663 |
pancreas | carcinoma | Substitution - Missense |
c.44G>T; p.S15I; 6:10556467-10556467 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1005C>T; p.G335G; 6:10621436-10621436 |
autonomic_ganglia | neuroblastoma | Substitution - coding silent |
c.178T>G; p.W60G; 6:10556601-10556601 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.67T>C; p.S23P; 6:10556490-10556490 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.626A>T; p.K209I; 6:10557049-10557049 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.431G>A; p.C144Y; 6:10556854-10556854 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.588A>C; p.K196N; 6:10557011-10557011 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.623T>G; p.F208C; 6:10557046-10557046 |
liver | carcinoma | Substitution - Missense |
c.1117delC; p.T374fs*5; 6:10626521-10626521 |
large_intestine; colon | carcinoma | Deletion - Frameshift |
c.970A>T; p.I324L; 6:10621401-10621401 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1154G>T; p.R385I; 6:10626558-10626558 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1009C>T; p.H337Y; 6:10621440-10621440 |
skin | malignant_melanoma | Substitution - Missense |
c.627A>G; p.K209K; 6:10557050-10557050 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.627A>G; p.K209K; 6:10557050-10557050 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.187A>T; p.K63*; 6:10556610-10556610 |
breast | carcinoma | Substitution - Nonsense |
c.208_210delTCT; p.S71delS; 6:10556631-10556633 |
oesophagus | carcinoma; squamous_cell_carcinoma | Deletion - In frame |
c.707G>T; p.G236V; 6:10557130-10557130 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.1051G>A; p.D351N; 6:10626455-10626455 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.44G>A; p.S15N; 6:10556467-10556467 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.66C>T; p.F22F; 6:10556489-10556489 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.17G>A; p.R6H; 6:10556440-10556440 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.251delC; p.P85fs*14; 6:10556674-10556674 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.417G>A; p.E139E; 6:10556840-10556840 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.923T>C; p.V308A; 6:10621354-10621354 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.531C>T; p.A177A; 6:10556954-10556954 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1011C>T; p.H337H; 6:10621442-10621442 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1011C>T; p.H337H; 6:10621442-10621442 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.963C>T; p.L321L; 6:10621394-10621394 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.754delC; p.H254fs*47; 6:10557177-10557177 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.754delC; p.H254fs*47; 6:10557177-10557177 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1113C>A; p.Y371*; 6:10626517-10626517 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.1147C>T; p.R383C; 6:10626551-10626551 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.626A>G; p.K209R; 6:10557049-10557049 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.367T>G; p.C123G; 6:10556790-10556790 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.803C>G; p.S268*; 6:10557226-10557226 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.1011delC; p.H337fs*16; 6:10621442-10621442 |
skin | malignant_melanoma | Deletion - Frameshift |