| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 2131 |
Name | EXT1 |
Synonymous | EXT|LGCR|LGS|TRPS2|TTV;exostosin 1;EXT1;exostosin 1 |
Definition | Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase|Langer-Giedion syndrome chromosome region|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase|exostoses (multiple) 1|exostosin-1|glucuronosyl-N-acetylgluc |
Position | 8q24.11 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for EXT1 | ||
PCGP somatic mutation [Top] | ||
There is no record for EXT1 | ||
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.2022G>C; p.Q674H; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1186A>G; p.I396V; |
lung | carcinoma; adenocarcinoma |
c.308G>A; p.C103Y; |
lung | carcinoma; small_cell_carcinoma |
c.1784G>A; p.R595H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.992C>T; p.A331V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.962+1G>T; p.?; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.208C>G; p.Q70E; |
NS | malignant_melanoma |
c.2186T>C; p.F729S; |
pancreas | carcinoma |
c.2132G>T; p.W711L; |
oesophagus | carcinoma; adenocarcinoma |
c.742A>T; p.R248W; |
oesophagus | carcinoma; adenocarcinoma |
c.1065C>T; p.C355C; |
stomach | carcinoma; adenocarcinoma |
c.595A>G; p.T199A; |
liver | carcinoma |
c.973C>T; p.R325W; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.518A>G; p.N173S; |
liver | carcinoma |
c.655G>T; p.A219S; |
large_intestine; colon | carcinoma |
c.2186T>C; p.F729S; |
pancreas | carcinoma; ductal_carcinoma |
c.822G>C; p.G274G; |
lung | carcinoma; adenocarcinoma |
c.807G>T; p.K269N; |
lung | carcinoma; adenocarcinoma |
c.1897C>T; p.L633L; |
lung | carcinoma; adenocarcinoma |
c.1787G>T; p.S596I; |
lung | carcinoma; adenocarcinoma |
c.1867G>A; p.A623T; |
lung | carcinoma; adenocarcinoma |
c.1386G>T; p.L462L; |
lung | carcinoma; adenocarcinoma |
c.414C>T; p.I138I; 8:119192053-119192053 |
lung | carcinoma; non_small_cell_carcinoma |
c.1828T>C; p.S610P; |
bone | chondrosarcoma |
c.490G>A; p.D164N; |
liver | carcinoma |
c.1504G>T; p.V502L; |
liver | carcinoma |
c.91T>C; p.S31P; |
lung | carcinoma; adenocarcinoma |
c.1704G>A; p.T568T; 8:118894310-118894310 |
ovary | carcinoma; serous_carcinoma |
c.1617T>G; p.I539M; |
ovary | carcinoma; serous_carcinoma |
c.453G>A; p.A151A; 8:119192014-119192014 |
ovary | carcinoma; serous_carcinoma |
c.636C>T; p.G212G; |
lung | carcinoma; squamous_cell_carcinoma |
c.856G>C; p.V286L; |
lung | carcinoma; squamous_cell_carcinoma |
c.316T>A; p.F106I; |
ovary | carcinoma; serous_carcinoma |
c.2093T>C; p.F698S; |
lung | carcinoma; squamous_cell_carcinoma |
c.51C>T; p.L17L; |
lung | carcinoma; adenocarcinoma |
c.1600G>T; p.V534L; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.581A>G; p.N194S; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.492C>G; p.D164E; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.2003C>T; p.P668L; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.781A>G; p.K261E; |
breast | carcinoma |
c.146C>A; p.P49H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1612G>A; p.V538I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.414C>T; p.I138I; 8:119192053-119192053 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.959delA; p.E320fs*39; |
breast | carcinoma |
c.949_957delACCGAGTAT; p.T317_Y319delTEY; |
breast | carcinoma |
c.1245T>G; p.Y415*; |
breast | carcinoma |
c.1571C>A; p.P524Q; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1144G>A; p.D382N; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.918G>T; p.K306N; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.542T>C; p.L181P; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.452C>T; p.A151V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.308G>A; p.C103Y; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.242C>T; p.S81F; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1843G>A; p.D615N; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1660G>A; p.D554N; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2162A>G; p.Q721R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1702A>G; p.T568A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2146C>A; p.P716T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.777C>T; p.L259L; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1211T>C; p.L404P; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.363G>A; p.Q121Q; |
endometrium | carcinoma; endometrioid_carcinoma |
c.290A>C; p.K97T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1134C>T; p.A378A; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1376C>A; p.S459*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1371G>T; p.Q457H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1263G>T; p.K421N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1538T>C; p.I513T; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1703C>T; p.T568M; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1770G>A; p.V590V; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1704G>T; p.T568T; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.415G>T; p.E139*; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.563G>T; p.R188M; |
endometrium | carcinoma; endometrioid_carcinoma |
c.680G>A; p.R227Q; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1644C>T; p.S548S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1918G>A; p.A640T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2039A>C; p.E680A; |
endometrium | carcinoma; endometrioid_carcinoma |
c.375G>T; p.E125D; |
endometrium | carcinoma; endometrioid_carcinoma |
c.115G>A; p.E39K; |
endometrium | carcinoma; endometrioid_carcinoma |
c.295C>T; p.R99C; |
urinary_tract; bladder | carcinoma |
c.2033A>T; p.Y678F; |
urinary_tract; bladder | carcinoma |
c.1024C>A; p.L342I; |
breast | carcinoma |
c.1175C>T; p.T392I; |
urinary_tract; bladder | carcinoma |
c.453G>A; p.A151A; 8:119192014-119192014 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.412A>G; p.I138V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1703C>T; p.T568M; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1704G>T; p.T568T; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.413T>C; p.I138T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1666A>T; p.I556F; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.2191G>T; p.D731Y; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1813C>T; p.R605W; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1974C>A; p.N658K; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1699G>C; p.D567H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1703C>T; p.T568M; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2183T>C; p.L728P; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.505C>T; p.Q169*; |
urinary_tract; bladder | carcinoma |
c.2096C>A; p.A699D; |
prostate | carcinoma; adenocarcinoma |
c.752T>C; p.L251S; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.924G>T; p.K308N; |
stomach | adenocarcinoma |