Entrez Gene

Basic Information
Gene ID	38
Name	ACAT1
Synonymous	acetyl-CoA acetyltransferase 1;ACAT1;acetyl-CoA acetyltransferase 1
Definition	acetoacetyl Coenzyme A thiolase\|acetoacetyl-CoA thiolase\|acetyl-CoA acetyltransferase, mitochondrial\|acetyl-Coenzyme A acetyltransferase 1\|mitochondrial acetoacetyl-CoA thiolase
Position	11q22.3
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.80G>T; p.R27I; 11:108131914-108131914	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1142T>C; p.V381A; 11:108146338-108146338	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.166T>C; p.L56L; 11:108133865-108133865	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.636C>T; p.D212D; 11:108140121-108140121	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.436-4G>A; p.?; 11:108138894-108138894	oesophagus	carcinoma; adenocarcinoma	Unknown
c.1091T>C; p.I364T; 11:108146287-108146287	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.555T>G; p.T185T; 11:108139017-108139017	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.13G>C; p.A5P; 11:108121619-108121619	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.13G>C; p.A5P; 11:108121619-108121619	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.767A>C; p.Y256S; 11:108141641-108141641	liver	carcinoma	Substitution - Missense
c.13G>C; p.A5P; 11:108121619-108121619	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.13G>C; p.A5P; 11:108121619-108121619	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.13G>C; p.A5P; 11:108121619-108121619	thyroid	other; neoplasm	Substitution - Missense
c.783T>C; p.F261F; 11:108141657-108141657	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.1136G>C; p.G379A; 11:108146332-108146332	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.308C>A; p.P103H; 11:108134290-108134290	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1136G>C; p.G379A; 11:108146332-108146332	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1084G>A; p.A362T; 11:108146280-108146280	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.169G>T; p.G57C; 11:108133868-108133868	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.315G>A; p.R105R; 11:108134297-108134297	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.415A>G; p.S139G; 11:108135222-108135222	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.462G>A; p.E154E; 11:108138924-108138924	breast	carcinoma	Substitution - coding silent
c.133G>T; p.V45L; 11:108133832-108133832	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.227T>A; p.I76N; 11:108133926-108133926	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; plasma_cell_myeloma	Substitution - Missense
c.845A>G; p.N282S; 11:108142455-108142455	pancreas	carcinoma	Substitution - Missense
c.557A>G; p.D186G; 11:108139019-108139019	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.141T>G; p.A47A; 11:108133840-108133840	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.477T>C; p.V159V; 11:108138939-108138939	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.623G>A; p.R208Q; 11:108140108-108140108	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.623G>A; p.R208Q; 11:108140108-108140108	thyroid	carcinoma; anaplastic_carcinoma	Substitution - Missense
c.416G>A; p.S139N; 11:108135223-108135223	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.402G>C; p.M134I; 11:108135209-108135209	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1130A>C; p.N377T; 11:108146326-108146326	breast	carcinoma	Substitution - Missense
c.443T>C; p.M148T; 11:108138905-108138905	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.719T>A; p.V240D; 11:108140204-108140204	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1009C>T; p.L337F; 11:108146205-108146205	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.162delT; p.L56fs*1; 11:108133861-108133861	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.162delT; p.L56fs*1; 11:108133861-108133861	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1220A>G; p.Y407C; 11:108147326-108147326	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.164T>G; p.F55C; 11:108133863-108133863	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.951C>T; p.D317D; 11:108143993-108143993	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.417T>C; p.S139S; 11:108135224-108135224	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.471C>A; p.S157S; 11:108138933-108138933	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.471C>A; p.S157S; 11:108138933-108138933	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1191T>G; p.H397Q; 11:108147297-108147297	prostate	carcinoma	Substitution - Missense
c.574C>A; p.H192N; 11:108139036-108139036	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1010T>G; p.L337R; 11:108146206-108146206	breast	carcinoma	Substitution - Missense
c.1068T>C; p.F356F; 11:108146264-108146264	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.992_993insT; p.A332fs*7; 11:108144034-108144035	liver	carcinoma	Insertion - Frameshift
c.622C>T; p.R208*; 11:108140107-108140107	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.772C>T; p.R258C; 11:108141646-108141646	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1021G>A; p.G341R; 11:108146217-108146217	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.390G>T; p.M130I; 11:108135197-108135197	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.902C>T; p.A301V; 11:108142512-108142512	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.388A>G; p.M130V; 11:108135195-108135195	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.700G>T; p.E234*; 11:108140185-108140185	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.266C>T; p.A89V; 11:108134248-108134248	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.104C>T; p.S35L; 11:108131938-108131938	breast	carcinoma	Substitution - Missense
c.715A>G; p.T239A; 11:108140200-108140200	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.85G>T; p.V29L; 11:108131919-108131919	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.253G>T; p.E85*; 11:108134235-108134235	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense

COSMIC somatic mutation [Top]