| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 1103 |
Name | CHAT |
Synonymous | CHOACTASE|CMS1A|CMS1A2;choline O-acetyltransferase;CHAT;choline O-acetyltransferase |
Definition | acetyl CoA:choline O-acetyltransferase|choline acetylase |
Position | 10q11.2 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for CHAT | ||
PCGP somatic mutation [Top] | ||
Variant (Variant; Chr; Position) | Genotype (MutationType; MutationClass; ReferenceAllele; Genotype; Origin) | Disease (CancerType; ValidationStatus; SequencingType) |
|---|---|---|
CHAT_T248T; chr10; 50835818 |
SUB; SILENT; G; G/A; SOMATIC | RHB; PUTATIVE-HQ; EXOME |
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.632C>A; p.P211H; |
lung | carcinoma; small_cell_carcinoma |
c.2022C>T; p.V674V; |
NS | malignant_melanoma |
c.2209G>A; p.E737K; |
NS | malignant_melanoma |
c.2022C>T; p.V674V; |
NS | malignant_melanoma |
c.2209G>A; p.E737K; |
NS | malignant_melanoma |
c.1721C>T; p.T574I; |
lung | carcinoma; small_cell_carcinoma |
c.556C>T; p.R186W; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.359C>G; p.A120G; |
lung | carcinoma; small_cell_carcinoma |
c.388-7C>A; p.?; |
liver | carcinoma |
c.1068C>T; p.D356D; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.2241A>C; p.Q747H; |
oesophagus; lower_third | carcinoma; adenocarcinoma |
c.2170C>A; p.L724M; |
oesophagus; lower_third | carcinoma; adenocarcinoma |
c.968G>A; p.R323H; 10:50505694-50505694 |
oesophagus | carcinoma; adenocarcinoma |
c.1880_1881TG>CA; p.L627P; |
lung | carcinoma; adenocarcinoma |
c.576C>G; p.N192K; |
lung | carcinoma; adenocarcinoma |
c.1119C>A; p.T373T; |
lung | carcinoma; adenocarcinoma |
c.1777-1G>T; p.?; |
lung | carcinoma; adenocarcinoma |
c.1299C>G; p.D433E; |
lung | carcinoma; adenocarcinoma |
c.2223G>T; p.R741S; |
lung | carcinoma; adenocarcinoma |
c.2105_2107delCTT; p.S705delS; |
lung | carcinoma; adenocarcinoma |
c.719C>T; p.S240F; |
lung | carcinoma; adenocarcinoma |
c.300C>G; p.C100W; |
lung | carcinoma; adenocarcinoma |
c.1221C>G; p.L407L; |
lung | carcinoma; adenocarcinoma |
c.1817C>A; p.A606D; |
pancreas | carcinoma; ductal_carcinoma |
c.406G>A; p.V136M; |
pancreas | carcinoma; ductal_carcinoma |
c.842G>A; p.R281Q; |
prostate | carcinoma |
c.1908G>A; p.K636K; |
lung | carcinoma; small_cell_carcinoma |
c.1147C>T; p.R383C; |
lung | carcinoma; small_cell_carcinoma |
c.348C>T; p.P116P; |
lung | carcinoma; small_cell_carcinoma |
c.1147C>A; p.R383S; |
lung | carcinoma; small_cell_carcinoma |
c.327G>A; p.T109T; 10:50494594-50494594 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.389G>A; p.G130E; 10:50497778-50497778 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.1485A>T; p.L495F; |
lung | carcinoma; adenocarcinoma |
c.1696C>A; p.R566S; |
lung | carcinoma; adenocarcinoma |
c.2112T>C; p.S704S; |
lung | carcinoma; adenocarcinoma |
c.968G>A; p.R323H; 10:50505694-50505694 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.372C>T; p.P124P; |
lung | carcinoma; squamous_cell_carcinoma |
c.1879C>G; p.L627V; |
lung | carcinoma; squamous_cell_carcinoma |
c.1863C>T; p.D621D; |
lung | carcinoma; squamous_cell_carcinoma |
c.1223T>A; p.L408H; |
lung | carcinoma; squamous_cell_carcinoma |
c.390G>A; p.G130G; |
ovary | carcinoma; serous_carcinoma |
c.1093A>T; p.R365W; |
lung | carcinoma; squamous_cell_carcinoma |
c.1379A>T; p.H460L; |
lung | carcinoma; squamous_cell_carcinoma |
c.522_523CC>AA; p.L175I; |
lung | carcinoma; adenocarcinoma |
c.1767T>A; p.A589A; |
lung | carcinoma; adenocarcinoma |
c.1061C>A; p.T354K; |
lung | carcinoma; squamous_cell_carcinoma |
c.1383-1G>T; p.?; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.1236C>A; p.G412G; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.1294C>A; p.R432R; |
lung | carcinoma; adenocarcinoma |
c.1433C>G; p.P478R; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.541C>A; p.Q181K; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.1967C>A; p.S656Y; |
lung | carcinoma; squamous_cell_carcinoma |
c.1369C>A; p.L457M; |
lung | carcinoma; squamous_cell_carcinoma |
c.1891G>C; p.A631P; |
lung | carcinoma; adenocarcinoma |
c.1282-2A>G; p.?; |
lung | carcinoma; squamous_cell_carcinoma |
c.942C>G; p.V314V; |
lung | carcinoma; squamous_cell_carcinoma |
c.1851G>T; p.G617G; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.382G>C; p.E128Q; |
lung | carcinoma; adenocarcinoma |
c.1098G>C; p.T366T; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.559C>A; p.Q187K; |
lung | carcinoma; squamous_cell_carcinoma |
c.1581G>A; p.Q527Q; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.1643G>T; p.R548L; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.649G>A; p.A217T; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1441C>T; p.R481W; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.125G>A; p.R42H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1299C>T; p.D433D; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.558G>A; p.R186R; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1420G>A; p.V474I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1670C>T; p.A557V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.936C>A; p.F312L; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.494T>G; p.I165S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1176G>A; p.A392A; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1320C>T; p.C440C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2093G>A; p.S698N; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1253C>T; p.A418V; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.378T>C; p.S126S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.965G>A; p.R322H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.968G>A; p.R323H; 10:50505694-50505694 |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1560G>A; p.G520G; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.2170C>T; p.L724L; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.141C>G; p.D47E; |
breast | carcinoma |
c.681C>T; p.G227G; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.657C>A; p.I219I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.985C>A; p.L329M; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1294C>A; p.R432R; |
endometrium | carcinoma; endometrioid_carcinoma |
c.47A>C; p.K16T; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2187G>T; p.E729D; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1505T>G; p.L502R; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1266C>T; p.Y422Y; |
endometrium | carcinoma; endometrioid_carcinoma |
c.849C>T; p.P283P; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.326C>T; p.T109M; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1336G>A; p.D446N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1824T>G; p.T608T; |
breast | carcinoma |
c.1431C>T; p.L477L; |
urinary_tract; bladder | carcinoma |
c.968G>A; p.R323H; 10:50505694-50505694 |
prostate | carcinoma; adenocarcinoma |
c.409delC; p.P138fs*62; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.821A>G; p.Y274C; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.819C>A; p.Y273*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1041G>A; p.L347L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2178G>A; p.P726P; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1335C>T; p.F445F; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1308C>T; p.C436C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1668C>T; p.S556S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1174G>A; p.A392T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1974C>A; p.S658R; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2028T>C; p.N676N; |
urinary_tract; bladder | carcinoma |
c.1238A>T; p.Y413F; |
prostate | carcinoma; adenocarcinoma |
c.967C>T; p.R323C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2185G>A; p.E729K; |
urinary_tract; bladder | carcinoma |
c.2063C>A; p.T688N; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.82A>C; p.R28R; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1062G>A; p.T354T; |
prostate | carcinoma; adenocarcinoma |
c.1840-1G>A; p.?; |
skin | malignant_melanoma |
c.413C>T; p.P138L; |
skin | malignant_melanoma |
c.531G>C; p.E177D; |
skin | malignant_melanoma |
c.1855G>A; p.A619T; |
skin | malignant_melanoma |
c.2158G>A; p.D720N; |
skin | malignant_melanoma |
c.1930G>A; p.D644N; |
skin | malignant_melanoma |
c.520G>A; p.G174S; |
skin; mucosal | malignant_melanoma |
c.978delG; p.D328fs*6; |
stomach | adenocarcinoma |