| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 9215 |
Name | LARGE |
Synonymous | MDC1D|MDDGA6|MDDGB6;like-glycosyltransferase;LARGE;like-glycosyltransferase |
Definition | acetylglucosaminyltransferase-like 1A|acetylglucosaminyltransferase-like protein|glycosyltransferase-like protein LARGE1|like-acetylglucosaminyltransferase |
Position | 22q12.3 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for LARGE | ||
PCGP somatic mutation [Top] | ||
There is no record for LARGE | ||
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.765G>T; p.W255C; |
lung | carcinoma; small_cell_carcinoma |
c.2073G>T; p.Q691H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1192_1193insC; p.R398fs*11; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.922C>T; p.R308W; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1021G>A; p.V341I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.668T>A; p.M223K; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1792G>A; p.E598K; |
skin; abdomen | malignant_melanoma |
c.209G>C; p.R70P; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; plasma_cell_myeloma |
c.1421T>C; p.V474A; |
pancreas | carcinoma; acinar_carcinoma |
c.2271+3C>T; p.?; 22:32000410-32000410 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.293A>G; p.H98R; |
oesophagus | carcinoma; adenocarcinoma |
c.1563G>A; p.E521E; |
liver | carcinoma |
c.1917C>T; p.F639F; |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma |
c.1917C>T; p.F639F; |
skin; arm | malignant_melanoma |
c.1931C>T; p.T644I; |
skin; trunk | malignant_melanoma; nodular |
c.577G>T; p.A193S; |
lung | carcinoma; adenocarcinoma |
c.349G>T; p.G117C; |
lung | carcinoma; adenocarcinoma |
c.406G>A; p.E136K; |
lung | carcinoma; adenocarcinoma |
c.2056A>G; p.M686V; |
bone | chondrosarcoma |
c.1435C>T; p.Q479*; |
liver | carcinoma |
c.166G>A; p.A56T; |
breast | carcinoma; basal_(triple-negative)_carcinoma |
c.1627G>A; p.V543M; |
lung | carcinoma; adenocarcinoma |
c.1410C>G; p.D470E; 22:32042112-32042112 |
ovary | carcinoma; serous_carcinoma |
c.1669C>T; p.P557S; |
lung | carcinoma; squamous_cell_carcinoma |
c.1224C>A; p.D408E; |
lung | carcinoma; squamous_cell_carcinoma |
c.20G>C; p.G7A; |
lung | carcinoma; squamous_cell_carcinoma |
c.604G>T; p.D202Y; |
lung | carcinoma; squamous_cell_carcinoma |
c.1662C>T; p.I554I; |
ovary | carcinoma; serous_carcinoma |
c.262G>T; p.G88C; |
lung | carcinoma; squamous_cell_carcinoma |
c.237C>T; p.L79L; |
lung | carcinoma; squamous_cell_carcinoma |
c.332G>T; p.S111I; |
lung | carcinoma; squamous_cell_carcinoma |
c.765G>T; p.W255C; |
lung | carcinoma; squamous_cell_carcinoma |
c.1556G>T; p.G519V; |
lung | carcinoma; squamous_cell_carcinoma |
c.117C>T; p.P39P; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.676G>T; p.V226F; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.1170G>A; p.K390K; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.1117G>T; p.V373L; |
ovary | carcinoma; serous_carcinoma |
c.1419C>G; p.D473E; |
ovary | carcinoma; serous_carcinoma |
c.1351T>C; p.F451L; |
lung | carcinoma; squamous_cell_carcinoma |
c.603A>G; p.A201A; |
lung | carcinoma; squamous_cell_carcinoma |
c.26G>A; p.R9Q; |
lung | carcinoma; squamous_cell_carcinoma |
c.140C>T; p.S47F; |
lung | carcinoma; squamous_cell_carcinoma |
c.1432G>A; p.A478T; |
lung | carcinoma; squamous_cell_carcinoma |
c.2065G>C; p.D689H; |
lung | carcinoma; adenocarcinoma |
c.1092C>T; p.T364T; |
lung | carcinoma; adenocarcinoma |
c.294C>T; p.H98H; |
lung | carcinoma; adenocarcinoma |
c.106+1G>A; p.?; |
lung | carcinoma; adenocarcinoma |
c.1898G>A; p.G633D; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.102C>A; p.F34L; |
breast | carcinoma |
c.1549G>A; p.A517T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1512C>T; p.Y504Y; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2257G>A; p.E753K; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.81T>C; p.I27I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1918G>A; p.A640T; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.544C>A; p.L182M; |
large_intestine; colon | NS |
c.1627G>A; p.V543M; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.186C>T; p.R62R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1791C>T; p.F597F; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.460G>A; p.V154I; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.551C>T; p.T184M; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.432C>T; p.C144C; |
large_intestine; rectum | NS |
c.102C>T; p.F34F; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.23G>A; p.R8K; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1192C>T; p.R398C; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1639C>T; p.R547C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.433G>A; p.A145T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1287C>T; p.N429N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1097C>T; p.S366F; |
endometrium | carcinoma; endometrioid_carcinoma |
c.408+2T>C; p.?; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1785C>T; p.P595P; |
endometrium | carcinoma; endometrioid_carcinoma |
c.533C>T; p.A178V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.477C>T; p.S159S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.219G>T; p.E73D; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1409A>G; p.D470G; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.102C>T; p.F34F; |
endometrium | carcinoma; endometrioid_carcinoma |
c.857G>A; p.R286H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2122C>T; p.H708Y; |
breast | carcinoma |
c.757G>C; p.E253Q; |
breast | carcinoma |
c.1917C>T; p.F639F; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2136C>T; p.F712F; |
endometrium | carcinoma; endometrioid_carcinoma |
c.937G>A; p.E313K; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1410C>T; p.D470D; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.923G>A; p.R308Q; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1918G>A; p.A640T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.25C>T; p.R9W; |
urinary_tract; bladder | carcinoma |
c.894G>A; p.G298G; |
endometrium | carcinoma; endometrioid_carcinoma |
c.25C>T; p.R9W; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2073G>A; p.Q691Q; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1152_1153insC; p.K385fs*24; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1123G>T; p.D375Y; |
urinary_tract; bladder | carcinoma |
c.930G>T; p.M310I; |
urinary_tract; bladder | carcinoma |
c.1339C>T; p.R447W; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.140C>T; p.S47F; |
urinary_tract; bladder | carcinoma |
c.948G>C; p.W316C; |
urinary_tract; bladder | carcinoma |
c.1410C>T; p.D470D; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1243G>A; p.E415K; |
skin | malignant_melanoma |
c.1150C>T; p.P384S; |
skin; ear | carcinoma; squamous_cell_carcinoma |
c.1777A>G; p.I593V; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |