ACAT1 (acetyl-CoA acetyltransferase 1)

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Gene: ACAT1 (acetyl-CoA acetyltransferase 1) Homo sapiens

Analyze

Symbol:

ACAT1

Name:

acetyl-CoA acetyltransferase 1

RGD ID:

737017

HGNC Page

HGNC

Description:

Exhibits acetyl-CoA C-acetyltransferase activity and potassium ion binding activity. Involved in isoleucine catabolic process; ketone body catabolic process; and purine nucleoside bisphosphate metabolic process. Localizes to mitochondrion. Implicated in beta-ketothiolase deficiency and carbohydrate metabolic disorder. Biomarker of arteriosclerosis.

Type:

protein-coding

RefSeq Status:

REVIEWED

Also known as:

ACAT; acetoacetyl Coenzyme A thiolase; acetoacetyl-CoA thiolase; acetyl-CoA acetyltransferase, mitochondrial; acetyl-Coenzyme A acetyltransferase 1; MAT; mitochondrial acetoacetyl-CoA thiolase; T2; testicular tissue protein Li 198; THIL

RGD Orthologs

Mouse

Rat

Chinchilla

Bonobo

Dog

Squirrel

Pig

Green Monkey

Naked Mole-Rat

Alliance Genes

More Info

more info ...

More Info

Species	Gene symbol and name	Data Source	Assertion derived from	less info ...
Orthologs ¹				less info ...
Mus musculus (house mouse):	Acat1 (acetyl-Coenzyme A acetyltransferase 1)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Rattus norvegicus (Norway rat):	Acat1 (acetyl-CoA acetyltransferase 1)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Chinchilla lanigera (long-tailed chinchilla):	Acat1 (acetyl-CoA acetyltransferase 1)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	ACAT1 (acetyl-CoA acetyltransferase 1)	NCBI	Ortholog
Canis lupus familiaris (dog):	ACAT1 (acetyl-CoA acetyltransferase 1)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Acat1 (acetyl-CoA acetyltransferase 1)	NCBI	Ortholog
Sus scrofa (pig):	ACAT1 (acetyl-CoA acetyltransferase 1)	HGNC	EggNOG, Ensembl, Inparanoid, NCBI, OMA, OrthoDB, Panther, Treefam
Chlorocebus sabaeus (African green monkey):	ACAT1 (acetyl-CoA acetyltransferase 1)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Acat1 (acetyl-CoA acetyltransferase 1)	NCBI	Ortholog
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Acat1 (acetyl-CoA acetyltransferase 1)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|TreeFam)
Mus musculus (house mouse):	Acat1 (acetyl-Coenzyme A acetyltransferase 1)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|Roundup\|TreeFam)
Danio rerio (zebrafish):	acat1 (acetyl-CoA acetyltransferase 1)	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|Roundup\|TreeFam\|ZFIN)
Drosophila melanogaster (fruit fly):	CG10932	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|Roundup\|TreeFam)
Saccharomyces cerevisiae (baker's yeast):	ERG10	Alliance	DIOPT (Ensembl Compara\|InParanoid\|OMA\|OrthoInspector\|PhylomeDB\|Roundup\|TreeFam)
Caenorhabditis elegans (roundworm):	T02G5.7	Alliance	DIOPT (OMA\|OrthoFinder\|PANTHER\|PhylomeDB)
Caenorhabditis elegans (roundworm):	kat-1	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|Roundup)

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

NCBI Annotation Information:

Note: ACAT1 (Gene ID: 38) and SOAT1 (Gene ID: 6646) share the ACAT1 symbol/alias in common. ACAT1 is a widely used alternative name for sterol O-acyltransferase 1 (SOAT1), which can be confused with the official symbol for ACAT1 (acetyl-CoA acetyltransferase 1, GeneID 38). [01 Jun 2018]

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38.p13 Ensembl	11	108,116,695 - 108,147,603 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh38	11	108,116,705 - 108,148,822 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh37	11	107,987,432 - 108,018,330 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	11	107,497,468 - 107,523,485 (+)	NCBI	NCBI36		hg18	NCBI36
Build 34	11	107,497,467 - 107,523,485	NCBI
Celera	11	105,147,145 - 105,173,805 (+)	NCBI
Cytogenetic Map	11	q22.3	NCBI
HuRef	11	103,917,783 - 103,944,520 (+)	NCBI		HuRef
CHM1_1	11	107,875,420 - 107,902,046 (+)	NCBI		CHM1_1

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

arteriosclerosis (IEP)

ataxia telangiectasia (IAGP)

beta-ketothiolase deficiency (IAGP)

carbohydrate metabolic disorder (IAGP)

end stage renal disease (EXP,ISO)

Experimental Liver Cirrhosis (EXP)

genetic disease (IAGP)

intellectual disability (IAGP)

nephrotic syndrome (ISO)

visual epilepsy (EXP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

(+)-alpha-tocopherol (ISO)

(+)-schisandrin B (ISO)

1,1-dichloroethene (ISO)

1,2,4-trimethylbenzene (ISO)

1,2-dimethylhydrazine (ISO)

1,3-dinitrobenzene (ISO)

1-naphthyl isothiocyanate (ISO)

17beta-estradiol (ISO)

2,2,2-tetramine (ISO)

2,3,7,8-tetrachlorodibenzodioxine (ISO)

2,6-dinitrotoluene (ISO)

2-methoxyethanol (ISO)

3,4-methylenedioxymethamphetamine (ISO)

3-chloropropane-1,2-diol (ISO)

3-isobutyl-1-methyl-7H-xanthine (EXP)

4,4'-diaminodiphenylmethane (ISO)

4,4'-sulfonyldiphenol (EXP)

6-(4-chlorophenyl)imidazo[2,1-b][1,3]thiazole-5-carbaldehyde O-(3,4-dichlorobenzyl)oxime (EXP)

7-ketocholesterol (EXP)

7H-xanthine (ISO)

9H-xanthine (ISO)

acetamide (ISO)

aflatoxin B1 (ISO)

amiodarone (ISO)

ammonium chloride (ISO)

antirheumatic drug (EXP)

arsenous acid (EXP)

atrazine (EXP)

benzo[a]pyrene (EXP,ISO)

bexarotene (ISO)

bisphenol A (ISO)

bisphenol F (EXP)

cadmium dichloride (EXP)

carbon nanotube (ISO)

chenodeoxycholic acid (EXP)

cisplatin (EXP)

clofibrate (ISO)

copper atom (ISO)

copper(0) (ISO)

copper(II) sulfate (EXP)

crocidolite asbestos (EXP)

cyclosporin A (EXP,ISO)

cyproconazole (ISO)

dexamethasone (EXP)

diarsenic trioxide (EXP)

dibutyl phthalate (ISO)

dicrotophos (EXP)

doxorubicin (EXP)

endosulfan (ISO)

enzyme inhibitor (EXP)

epoxiconazole (ISO)

farnesol (EXP)

fenofibrate (EXP,ISO)

finasteride (ISO)

folic acid (ISO)

furan (ISO)

GDP-beta-S (EXP)

gentamycin (ISO)

GW 4064 (EXP)

indometacin (EXP)

irinotecan (EXP)

isobutanol (EXP)

lead diacetate (ISO)

leflunomide (ISO)

methapyrilene (ISO)

morphine (ISO)

N-methyl-4-phenylpyridinium (ISO)

N-nitrosodiethylamine (ISO)

N-nitrosodimethylamine (ISO)

nitroglycerin (ISO)

oleic acid (EXP)

ozone (ISO)

paracetamol (EXP,ISO)

perfluorohexanesulfonic acid (ISO)

perfluorooctane-1-sulfonic acid (ISO)

perfluorooctanoic acid (EXP,ISO)

phenobarbital (ISO)

phlorizin (ISO)

phosphatidylcholine (ISO)

pioglitazone (EXP)

pirinixic acid (ISO)

platycodin D (EXP)

potassium dichromate (EXP)

pravastatin (ISO)

pregnenolone 16alpha-carbonitrile (ISO)

propiconazole (ISO)

quercetin (EXP)

rac-1,2-dichloropropane (ISO)

resveratrol (EXP)

rotenone (EXP)

rottlerin (EXP)

sarpogrelate (EXP)

serotonin (EXP)

sodium arsenite (ISO)

soybean oil (ISO)

stigmasterol (EXP)

streptozocin (ISO)

tamoxifen (ISO)

Tesaglitazar (ISO)

tetrachloromethane (ISO)

tetracycline (ISO)

titanium dioxide (EXP)

tributylstannane (ISO)

troglitazone (ISO)

tunicamycin (EXP)

urethane (EXP)

valproic acid (EXP,ISO)

vancomycin (ISO)

vitamin E (ISO)

zaragozic acid A (ISO)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

acetyl-CoA biosynthetic process (IDA)

acetyl-CoA catabolic process (IDA)

adipose tissue development (IEA,ISO)

brain development (IEA,ISO)

branched-chain amino acid catabolic process (TAS)

cholesterol esterification (TAS)

coenzyme A biosynthetic process (IDA)

coenzyme A metabolic process (IDA)

fatty acid beta-oxidation (IBA,IEA)

isoleucine catabolic process (IMP,TAS)

ketone body biosynthetic process (TAS)

ketone body catabolic process (IMP,TAS)

ketone body metabolic process (IC)

liver development (IEA,ISO)

metanephric proximal convoluted tubule development (IEA,ISO)

propionyl-CoA biosynthetic process (IDA)

response to hormone (IEA,ISO)

response to organic cyclic compound (IEA,ISO)

response to starvation (IEA,ISO)

Cellular Component

extracellular exosome (HDA)

mitochondrial matrix (ISO,TAS)

mitochondrion (IBA,IDA)

peroxisome (ISO)

Molecular Function

acetyl-CoA C-acetyltransferase activity (IBA,IDA,IMP,ISO)

C-acetyltransferase activity (IDA)

coenzyme A binding (IEA,ISO)

enzyme binding (IEA,ISO)

identical protein binding (IEA,ISO)

potassium ion binding (IDA)

transferase activity, transferring acyl groups other than amino-acyl groups (IEA)

Molecular Pathway Annotations Click to see Annotation Detail View

2-aminoadipic 2-oxoadipic aciduria pathway (EXP)

3-hydroxy-3-methylglutaryl-CoA lyase deficiency pathway (EXP)

3-hydroxyacyl-CoA dehydrogenase deficiency pathway (EXP)

3-hydroxyisobutyric aciduria pathway (EXP)

3-methylcrotonyl CoA carboxylase 1 deficiency pathway (EXP)

3-methylglutaconic aciduria type 1 pathway (EXP)

3-methylglutaconic aciduria type 3 pathway (EXP)

butanoate metabolic pathway (EXP,IEA)

carnitine palmitoyltransferase I deficiency pathway (EXP)

ethylmalonic encephalopathy pathway (EXP)

fatty acid beta degradation pathway (EXP)

fatty acid metabolic pathway (EXP)

glutaric aciduria type I pathway (EXP)

glyoxylate and dicarboxylate metabolic pathway (IEA)

hyperlysinemia pathway (EXP)

isobutyryl-CoA dehydrogenase deficiency pathway (EXP)

isovaleric acidemia pathway (EXP)

ketone bodies metabolic pathway (EXP,IEA,TAS)

Leigh disease pathway (EXP)

lysine degradation pathway (EXP,IEA)

malonic aciduria pathway (EXP)

maple syrup urine disease pathway (EXP)

medium chain acyl-CoA dehydrogenase deficiency pathway (EXP)

methylmalonate semialdehyde dehydrogenase deficiency pathway (EXP)

methylmalonic acidemia pathway (EXP)

methylmalonic aciduria, cobalamin-related pathway (EXP)

primary hyperoxaluria type 2 pathway (EXP)

propanoate metabolic pathway (EXP,IEA)

propionic acidemia pathway (EXP)

pyruvate decarboxylase deficiency pathway (EXP)

pyruvate dehydrogenase E1 deficiency pathway (EXP)

pyruvate kinase deficiency of red cells pathway (EXP)

pyruvate metabolic pathway (EXP,IEA)

saccharopinuria pathway (EXP)

short-chain acyl-CoA dehydrogenase deficiency pathway (EXP)

succinyl-CoA:3-oxoacid transferase deficiency pathway (EXP)

terpenoid biosynthetic pathway (IEA)

trifunctional protein deficiency pathway (EXP)

tryptophan metabolic pathway (IEA)

valine, leucine and isoleucine degradation pathway (EXP,IEA)

very long-chain acyl-CoA dehydrogenase deficiency pathway (EXP)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Abnormal metabolic brain imaging by MRS (IAGP)

Agitation (IAGP)

Anorexia (IAGP)

Apathy (IAGP)

Ataxia (IAGP)

Autosomal recessive inheritance (IAGP)

Body odor (IAGP)

Coma (IAGP)

Cough (IAGP)

Dehydration (IAGP)

Diarrhea (IAGP)

Edema (IAGP)

Episodic ketoacidosis (IAGP)

Excessive daytime somnolence (IAGP)

Extrapyramidal dyskinesia (IAGP)

Fever (IAGP)

Hepatomegaly (IAGP)

Hyperammonemia (IAGP)

Hyperglycemia (IAGP)

Hypertension (IAGP)

Hyperuricemia (IAGP)

Hypoglycemia (IAGP)

Hyporeflexia (IAGP)

Hypotension (IAGP)

Hypotonia (IAGP)

Increased serum lactate (IAGP)

Intellectual disability (IAGP)

Intellectual disability, mild (IAGP)

Intellectual disability, severe (IAGP)

Ketoacidosis (IAGP)

Ketonuria (IAGP)

Leukocytosis (IAGP)

Metabolic acidosis (IAGP)

Motor delay (IAGP)

Oral aversion (IAGP)

Pallor (IAGP)

Seizure (IAGP)

Spasticity (IAGP)

Tachypnea (IAGP)

Thrombocytosis (IAGP)

Vomiting (IAGP)

Weight loss (IAGP)

References

References - curated


1.	Bem Z and Birecka A, Pol Przegl Radiol Med Nukl 1978 Mar-Apr;42(2):115-7.
2.	Cho KH, etal., Biochim Biophys Acta. 2010 Jan;1800(1):6-15. Epub 2009 Oct 28.
3.	Forcheron F, etal., Arterioscler Thromb Vasc Biol. 2005 Aug;25(8):1711-7. Epub 2005 Jun 16.
4.	Fukao T, etal., Prenat Diagn. 1995 Apr;15(4):363-7.
5.	GOA_HUMAN data from the GO Consortium
6.	KEGG
7.	Kim HJ and Vaziri ND, Am J Nephrol. 2009 Jan 16;29(6):607-614.
8.	Liang JJ, etal., J Biol Chem 2004 Oct 22;279(43):44938-44. Epub 2004 Aug 11.
9.	Morris AA J Inherit Metab Dis. 2005;28(2):109-21.
10.	OMIM Disease Annotation Pipeline
11.	Pipeline to import KEGG annotations from KEGG into RGD
12.	Pipeline to import SMPDB annotations from SMPDB into RGD
13.	Pruitt KD and Maglott DR, Nucleic Acids Res. 2001 Jan 1;29(1):137-40.
14.	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
15.	RGD automated import pipeline for gene-chemical interactions
16.	RGD automated import pipeline for human HPO-to-gene-to-disease annotations
17.	Sokolov IuN, etal., Vestn Rentgenol Radiol 1978 Nov-Dec;(6):3-11.

Additional References at PubMed

PMID:1346617	PMID:1351831	PMID:1627655	PMID:1684944	PMID:1715688	PMID:1979337	PMID:3709573	PMID:4690360	PMID:7173255	PMID:7728148	PMID:7749408	PMID:7907600
PMID:8103405	PMID:9380443	PMID:9607396	PMID:9700610	PMID:9744475	PMID:12477932	PMID:12754704	PMID:15128923	PMID:15242332	PMID:16341674	PMID:16611982	PMID:16935016
PMID:17236799	PMID:17353931	PMID:17371050	PMID:18029348	PMID:18393248	PMID:18511318	PMID:18562306	PMID:18996102	PMID:19056867	PMID:19112833	PMID:19738201	PMID:20046049
PMID:20156697	PMID:20167577	PMID:20877624	PMID:21081666	PMID:21145461	PMID:21791085	PMID:21873635	PMID:21988832	PMID:22057399	PMID:22145905	PMID:22268729	PMID:22586326
PMID:22623428	PMID:22939629	PMID:23376485	PMID:23443136	PMID:23533145	PMID:23874603	PMID:24311408	PMID:24486017	PMID:24608080	PMID:24711643	PMID:25099943	PMID:25458010
PMID:25639359	PMID:25659154	PMID:25737280	PMID:25864199	PMID:25921289	PMID:26186194	PMID:26344197	PMID:27264805	PMID:27591049	PMID:27609421	PMID:27748876	PMID:28031328
PMID:28302793	PMID:28514442	PMID:28581483	PMID:29128334	PMID:29229926	PMID:29395067	PMID:29467282	PMID:29507755	PMID:29509190	PMID:29509794	PMID:29511337	PMID:29568061
PMID:29793481	PMID:29845934	PMID:30092298	PMID:30196744	PMID:30463901	PMID:30541014	PMID:30575818	PMID:30773093	PMID:30948266	PMID:30997501	PMID:31056398	PMID:31091453
PMID:31536960	PMID:31586073	PMID:31974474	PMID:31980649	PMID:31995728	PMID:32129710	PMID:32203420	PMID:32249768	PMID:32416067	PMID:32646003	PMID:32877691

Genomics

Comparative Map Data

ACAT1
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38.p13 Ensembl	11	108,116,695 - 108,147,603 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh38	11	108,116,705 - 108,148,822 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh37	11	107,987,432 - 108,018,330 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	11	107,497,468 - 107,523,485 (+)	NCBI	NCBI36		hg18	NCBI36
Build 34	11	107,497,467 - 107,523,485	NCBI
Celera	11	105,147,145 - 105,173,805 (+)	NCBI
Cytogenetic Map	11	q22.3	NCBI
HuRef	11	103,917,783 - 103,944,520 (+)	NCBI		HuRef
CHM1_1	11	107,875,420 - 107,902,046 (+)	NCBI		CHM1_1

Acat1
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	9	53,491,822 - 53,521,650 (-)	NCBI	GRCm39		mm39
GRCm39 Ensembl	9	53,491,822 - 53,521,682 (-)	Ensembl
GRCm38	9	53,580,522 - 53,610,350 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	9	53,580,522 - 53,610,382 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	9	53,388,627 - 53,418,455 (-)	NCBI	GRCm37		mm9	NCBIm37
MGSCv36	9	53,342,917 - 53,372,745 (-)	NCBI			mm8
Celera	9	50,840,318 - 50,870,157 (-)	NCBI		Celera
Cytogenetic Map	9	A5.3	NCBI
cM Map	9	29.12	NCBI

Acat1
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
mRatBN7.2	8	53,979,813 - 54,008,861 (-)	NCBI
Rnor_6.0 Ensembl	8	58,166,990 - 58,195,884 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_6.0	8	58,166,990 - 58,195,884 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_5.0	8	56,749,861 - 56,778,336 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	8	57,044,478 - 57,072,970 (-)	NCBI	RGSC3.4		rn4	RGSC3.4
RGSC_v3.1	8	57,063,521 - 57,092,024 (-)	NCBI
Celera	8	53,470,530 - 53,499,505 (-)	NCBI		Celera
Cytogenetic Map	8	q24	NCBI

Acat1
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955412	10,349,593 - 10,369,806 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955412	10,350,088 - 10,369,806 (+)	NCBI	ChiLan1.0	ChiLan1.0

ACAT1
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
PanPan1.1	11	106,483,563 - 106,509,793 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	11	106,483,563 - 106,509,787 (+)	Ensembl	panpan1.1		panPan2
Mhudiblu_PPA_v0	11	103,008,564 - 103,034,697 (+)	NCBI	Mhudiblu_PPA_v0		panPan3

ACAT1
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	5	24,361,301 - 24,379,807 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	5	24,361,301 - 24,379,812 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	5	24,286,784 - 24,306,232 (-)	NCBI
ROS_Cfam_1.0	5	24,389,926 - 24,409,658 (-)	NCBI
UMICH_Zoey_3.1	5	24,437,216 - 24,456,918 (-)	NCBI
UNSW_CanFamBas_1.0	5	24,338,692 - 24,358,333 (-)	NCBI
UU_Cfam_GSD_1.0	5	24,396,960 - 24,416,675 (-)	NCBI

Acat1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024404947	90,910,486 - 90,941,886 (+)	NCBI
SpeTri2.0	NW_004936551	594,647 - 626,016 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

ACAT1
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	9	36,525,261 - 36,545,633 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	9	36,525,266 - 36,545,634 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	9	40,601,654 - 40,622,145 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

ACAT1
(Chlorocebus sabaeus - African green monkey)

Vervet Assembly	Chr	Position (strand)	Source	Genome Browsers
Vervet Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	1	99,552,760 - 99,580,079 (+)	NCBI
ChlSab1.1 Ensembl	1	99,552,838 - 99,579,914 (+)	Ensembl

Acat1
(Heterocephalus glaber - naked mole-rat)

Molerat Assembly	Chr	Position (strand)	Source	Genome Browsers
Molerat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla 1.0	NW_004624784	2,833,344 - 2,879,043 (+)	NCBI

Position Markers

D11S384

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	108,009,733 - 108,010,008	UniSTS	GRCh37
GRCh37	11	108,014,083 - 108,014,346	UniSTS	GRCh37
GRCh37	11	108,040,078 - 108,040,323	UniSTS	GRCh37
Build 36	11	107,519,293 - 107,519,556	RGD	NCBI36
Celera	11	105,168,994 - 105,169,257	RGD
Celera	11	105,195,031 - 105,195,276	UniSTS
Celera	11	105,164,633 - 105,164,908	UniSTS
Cytogenetic Map	11	q22.3	UniSTS
HuRef	11	103,935,528 - 103,935,803	UniSTS
HuRef	11	103,939,709 - 103,939,972	UniSTS
HuRef	11	103,965,700 - 103,965,945	UniSTS

D11S2241E

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	108,018,036 - 108,018,182	UniSTS	GRCh37
Build 36	11	107,523,246 - 107,523,392	RGD	NCBI36
Celera	11	105,172,946 - 105,173,092	RGD
Cytogenetic Map	11	q22.3	UniSTS
HuRef	11	103,943,661 - 103,943,807	UniSTS

RH45817

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	108,018,984 - 108,019,164	UniSTS	GRCh37
Build 36	11	107,524,194 - 107,524,374	RGD	NCBI36
Celera	11	105,173,894 - 105,174,074	RGD
Cytogenetic Map	11	q22.3	UniSTS
HuRef	11	103,944,609 - 103,944,789	UniSTS
GeneMap99-GB4 RH Map	11	365.77	UniSTS
NCBI RH Map	11	999.9	UniSTS

D11S2051

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	108,018,005 - 108,018,108	UniSTS	GRCh37
Build 36	11	107,523,215 - 107,523,318	RGD	NCBI36
Celera	11	105,172,915 - 105,173,018	RGD
Cytogenetic Map	11	q22.3	UniSTS
HuRef	11	103,943,630 - 103,943,733	UniSTS

D11S4336

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	108,018,166 - 108,018,275	UniSTS	GRCh37
Build 36	11	107,523,376 - 107,523,485	RGD	NCBI36
Celera	11	105,173,076 - 105,173,185	RGD
Cytogenetic Map	11	q22.3	UniSTS
HuRef	11	103,943,791 - 103,943,900	UniSTS
TNG Radiation Hybrid Map	11	49430.0	UniSTS
Stanford-G3 RH Map	11	4763.0	UniSTS
GeneMap99-GB4 RH Map	11	366.65	UniSTS
Whitehead-RH Map	11	490.4	UniSTS
NCBI RH Map	11	998.8	UniSTS
GeneMap99-G3 RH Map	11	4763.0	UniSTS

STS-AA010069

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	108,018,586 - 108,018,702	UniSTS	GRCh37
Build 36	11	107,523,796 - 107,523,912	RGD	NCBI36
Celera	11	105,173,496 - 105,173,612	RGD
Cytogenetic Map	11	q22.3	UniSTS
HuRef	11	103,944,211 - 103,944,327	UniSTS
GeneMap99-GB4 RH Map	11	365.77	UniSTS
NCBI RH Map	11	999.9	UniSTS

ACAT1

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	108,017,942 - 108,018,145	UniSTS	GRCh37
Build 36	11	107,523,152 - 107,523,355	RGD	NCBI36
Celera	11	105,172,852 - 105,173,055	RGD
Cytogenetic Map	11	q22.3	UniSTS
HuRef	11	103,943,567 - 103,943,770	UniSTS
GeneMap99-GB4 RH Map	11	365.77	UniSTS
NCBI RH Map	11	999.9	UniSTS

GDB:555481

Human Assembly	Chr	Position (strand)	Source	JBrowse
Cytogenetic Map	11	q22.3	UniSTS

GDB:555487

Human Assembly	Chr	Position (strand)	Source	JBrowse
Cytogenetic Map	11	q22.3	UniSTS

GDB:555490

Human Assembly	Chr	Position (strand)	Source	JBrowse
Cytogenetic Map	11	q22.3	UniSTS

D11S384

Human Assembly	Chr	Position (strand)	Source	JBrowse
Cytogenetic Map	11	q22.3	UniSTS

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	1865
Count of miRNA genes:	974
Interacting mature miRNAs:	1188
Transcripts:	ENST00000265838, ENST00000299355, ENST00000524833, ENST00000526119, ENST00000527942, ENST00000528370, ENST00000531813, ENST00000531853, ENST00000532792, ENST00000533597, ENST00000533610, ENST00000534773
Prediction methods:	Microtar, Miranda, Rnahybrid
Result types:	miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Expression

RNA-SEQ Expression

High: > 1000 TPM value Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system

circulatory system

endocrine system

exocrine system

hemolymphoid system

hepatobiliary system

integumental system

musculoskeletal system

nervous system

renal system

reproductive system

respiratory system

sensory system

visual system

adipose tissue

appendage

entire extraembryonic component

pharyngeal arch

High

Medium

2397

2162

1708

622

1140

462

4355

2121

3274

400

1396

1595

174

1203

2788

Low

819

801

460

Below cutoff

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NG_009888	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_000019	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001386677	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001386678	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001386679	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001386681	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001386682	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001386685	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001386686	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001386687	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001386688	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001386689	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001386690	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001386691	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NR_170162	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NR_170163	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017017682	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_024448514	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AF086561	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK312574	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AP002433	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AW081574	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC010942	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC063853	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BM789408	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471065	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	D10511	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	D90228	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	HM005511	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	S70578	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Reference Sequences

RefSeq Acc Id:

ENST00000265838 ⟹ ENSP00000265838

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	11	108,121,567 - 108,147,603 (+)	Ensembl

RefSeq Acc Id:

ENST00000299355 ⟹ ENSP00000299355

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	11	108,121,567 - 108,136,939 (+)	Ensembl

RefSeq Acc Id:

ENST00000524833

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	11	108,121,567 - 108,134,448 (+)	Ensembl

RefSeq Acc Id:

ENST00000526119

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	11	108,121,805 - 108,131,954 (+)	Ensembl

RefSeq Acc Id:

ENST00000527942

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	11	108,121,796 - 108,135,241 (+)	Ensembl

RefSeq Acc Id:

ENST00000528370 ⟹ ENSP00000436096

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	11	108,133,894 - 108,139,164 (+)	Ensembl

RefSeq Acc Id:

ENST00000531813 ⟹ ENSP00000435965

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	11	108,121,584 - 108,143,946 (+)	Ensembl

RefSeq Acc Id:

ENST00000531853

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	11	108,121,751 - 108,134,244 (+)	Ensembl

RefSeq Acc Id:

ENST00000532792

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	11	108,138,968 - 108,144,221 (+)	Ensembl

RefSeq Acc Id:

ENST00000533597

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	11	108,146,121 - 108,147,588 (+)	Ensembl

RefSeq Acc Id:

ENST00000533610

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	11	108,140,025 - 108,144,147 (+)	Ensembl

RefSeq Acc Id:

ENST00000534773

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	11	108,138,720 - 108,140,171 (+)	Ensembl

RefSeq Acc Id:

ENST00000671707

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	11	108,122,342 - 108,147,455 (+)	Ensembl

RefSeq Acc Id:

ENST00000672008 ⟹ ENSP00000500499

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	11	108,121,593 - 108,141,612 (+)	Ensembl

RefSeq Acc Id:

ENST00000672031 ⟹ ENSP00000500463

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	11	108,121,567 - 108,147,452 (+)	Ensembl

RefSeq Acc Id:

ENST00000672284 ⟹ ENSP00000500444

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	11	108,116,695 - 108,147,594 (+)	Ensembl

RefSeq Acc Id:

ENST00000672354 ⟹ ENSP00000500490

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	11	108,121,572 - 108,147,492 (+)	Ensembl

RefSeq Acc Id:

ENST00000672367 ⟹ ENSP00000500209

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	11	108,121,567 - 108,147,603 (+)	Ensembl

RefSeq Acc Id:

ENST00000672580 ⟹ ENSP00000500366

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	11	108,121,553 - 108,147,587 (+)	Ensembl

RefSeq Acc Id:

ENST00000672907 ⟹ ENSP00000500928

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	11	108,121,567 - 108,147,603 (+)	Ensembl

RefSeq Acc Id:

ENST00000673000

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	11	108,127,919 - 108,147,388 (+)	Ensembl

RefSeq Acc Id:

ENST00000673531 ⟹ ENSP00000500163

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	11	108,121,567 - 108,147,470 (+)	Ensembl

RefSeq Acc Id:

NM_000019 ⟹ NP_000010

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	11	108,121,567 - 108,147,603 (+)	NCBI
GRCh37	11	107,992,258 - 108,018,895 (+)	ENTREZGENE
Build 36	11	107,497,468 - 107,523,485 (+)	NCBI Archive
HuRef	11	103,917,783 - 103,944,520 (+)	ENTREZGENE
CHM1_1	11	107,875,420 - 107,902,046 (+)	NCBI

Sequence:

show sequence

GGCCGCTAGGGGTGCGGGGTTGGGGAGGAGGCCGCTAGTCTACGCCTGTGGAGCCGATACTCAG
CCCTCTGCGACCATGGCTGTGCTGGCGGCACTTCTGCGCAGCGGCGCCCGCAGCCGCAGCCCCC
TGCTCCGGAGGCTGGTGCAGGAAATAAGATATGTGGAACGGAGTTATGTATCAAAACCCACTTT
GAAGGAAGTGGTCATAGTAAGTGCTACAAGAACACCCATTGGATCTTTTTTAGGCAGCCTTTCC
TTGCTGCCAGCCACTAAGCTTGGTTCCATTGCAATTCAGGGAGCCATTGAAAAGGCAGGGATTC
CAAAAGAAGAAGTGAAAGAAGCATACATGGGTAATGTTCTACAAGGAGGTGAAGGACAAGCTCC
TACAAGGCAGGCAGTATTGGGTGCAGGCTTACCTATTTCTACTCCATGTACCACCATAAACAAA
GTTTGTGCTTCAGGAATGAAAGCCATCATGATGGCCTCTCAAAGTCTTATGTGTGGACATCAGG
ATGTGATGGTGGCAGGTGGGATGGAGAGCATGTCCAATGTTCCATATGTAATGAACAGAGGATC
AACACCATATGGTGGGGTAAAGCTTGAAGATTTGATTGTAAAAGACGGGCTAACTGATGTCTAC
AATAAAATTCATATGGGCAGCTGTGCTGAGAATACAGCAAAGAAGCTGAATATTGCACGAAATG
AACAGGACGCTTATGCTATTAATTCTTATACCAGAAGTAAAGCAGCATGGGAAGCTGGGAAATT
TGGAAATGAAGTTATTCCTGTCACAGTTACAGTAAAAGGTCAACCAGATGTAGTGGTGAAAGAA
GATGAAGAATATAAACGTGTTGATTTTAGCAAAGTTCCAAAGCTGAAGACAGTTTTCCAGAAAG
AAAATGGCACAGTAACAGCTGCCAATGCCAGTACACTGAATGATGGAGCAGCTGCTCTGGTTCT
CATGACGGCAGATGCAGCGAAGAGGCTCAATGTTACACCACTGGCAAGAATAGTAGCATTTGCT
GACGCTGCTGTAGAACCTATTGATTTTCCAATTGCTCCTGTATATGCTGCATCTATGGTTCTTA
AAGATGTGGGATTGAAAAAAGAAGATATTGCAATGTGGGAAGTAAATGAAGCCTTTAGTCTGGT
TGTACTAGCAAACATTAAAATGTTGGAGATTGATCCCCAAAAAGTGAATATCAATGGAGGAGCT
GTTTCTCTGGGACATCCAATTGGGATGTCTGGAGCCAGGATTGTTGGTCATTTGACTCATGCCT
TGAAGCAAGGAGAATACGGTCTTGCCAGTATTTGCAATGGAGGAGGAGGTGCTTCTGCCATGCT
AATTCAGAAGCTGTAGACAACCTCTGCTATTTAAGGAGACAACCCTATGTGACCAGAAGGCCTG
CTGTAATCAGTGTGACTACTGTGGGTCAGCTTATATTCAGATAAGCTGTTTCATTTTTTATTAT
TTTCTATGTTAACTTTTAAAAATCAAAATGATGAAATCCCAAAACATTTTGAAATTAAAAATAA
ATTTCTTCTTCTGCTTTTTTCTTGGTAACCTTGAAAAGTTTGATACATTTTTGCATTCTGAGTC
TATACTTATCGAAATATGGTAGAAATACCAATGTGTAATATTAGTGACTTACATAAGTAGCTAG
AAGTTTCCATTTGTGAGAACACATTTATATTTTTGAGGATTGTTAAAGGTCAAGTGAATGCTCT
TTATAGGTAATTTACATTTAGTAAATTACGGTAAATTAAATTACTTCTCTTTACAGTAAGAGTT
GGCTATTCTGGACAAACTAGCAGTGCTTCATATAATCACTCAAACCACAGTGTGTGCAGCAGTA
CTAGAAACAAGACAGAAGCCCATGTCCTCAGGGTCTAGAGTGGGGGCAATTTCTTATAACCTCA
ACATTCAGGGTTGGGGGAGGTCAAGCAGAAAACCCTGGAGTTTGGGCTCTGAATTACTATAGCA
GCATAGAGAGTGGGAAGGGAGGTAGAAACTGATATGCTGAATGGATATATAAAAAAGGGAACAG
ATCACCACTTCCAATACACGACAATGCCTGTTCTTAAGCAGGACAGACTGTAACAGAAGTATCT
CGCATTGCATTTTATCTGGGAAAAAAAAAAAAAAAAA

hide sequence

RefSeq Acc Id:

NM_001386677 ⟹ NP_001373606

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	11	108,121,567 - 108,147,603 (+)	NCBI

RefSeq Acc Id:

NM_001386678 ⟹ NP_001373607

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	11	108,121,567 - 108,147,603 (+)	NCBI

RefSeq Acc Id:

NM_001386679 ⟹ NP_001373608

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	11	108,121,567 - 108,147,603 (+)	NCBI

RefSeq Acc Id:

NM_001386681 ⟹ NP_001373610

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	11	108,116,705 - 108,147,603 (+)	NCBI

RefSeq Acc Id:

NM_001386682 ⟹ NP_001373611

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	11	108,116,705 - 108,147,603 (+)	NCBI

RefSeq Acc Id:

NM_001386685 ⟹ NP_001373614

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	11	108,121,567 - 108,147,603 (+)	NCBI

RefSeq Acc Id:

NM_001386686 ⟹ NP_001373615

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	11	108,121,567 - 108,147,603 (+)	NCBI

RefSeq Acc Id:

NM_001386687 ⟹ NP_001373616

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	11	108,121,796 - 108,147,603 (+)	NCBI

RefSeq Acc Id:

NM_001386688 ⟹ NP_001373617

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	11	108,121,796 - 108,147,603 (+)	NCBI

RefSeq Acc Id:

NM_001386689 ⟹ NP_001373618

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	11	108,121,796 - 108,147,603 (+)	NCBI

RefSeq Acc Id:

NM_001386690 ⟹ NP_001373619

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	11	108,121,796 - 108,147,603 (+)	NCBI

RefSeq Acc Id:

NM_001386691 ⟹ NP_001373620

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	11	108,121,796 - 108,147,603 (+)	NCBI

RefSeq Acc Id:

NR_170162

RefSeq Status:

REVIEWED

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	11	108,121,567 - 108,147,603 (+)	NCBI

RefSeq Acc Id:

NR_170163

RefSeq Status:

REVIEWED

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	11	108,121,567 - 108,147,603 (+)	NCBI

RefSeq Acc Id:

XM_017017682 ⟹ XP_016873171

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	11	108,121,567 - 108,148,822 (+)	NCBI

Sequence:

show sequence

AGTCTACGCCTGTGGAGCCGATACTCAGCCCTCTGCGACCATGGCTGTGCTGGCGGCACTTCTG
CGCAGCGGCGCCCGCAGCCGCAGCCCCCTGCTCCGGAGGCTGGTGCAGGAAATAAGATATGTGG
AACGGAGTTATGTATCAAAACCCACTTTGAAGGAAGTGGTCATAGTAAGTGCTACAAGAACACC
CATTGGATCTTTTTTAGGCAGCCTTTCCTTGCTGCCAGCCACTAAGCTTGGTTCCATTGCAATT
CAGGGAGCCATTGAAAAGGCAGGGATTCCAAAAGAAGAAGTGAAAGAAGCATACATGGGTAATG
TTCTACAAGGAGGTGAAGGACAAGCTCCTACAAGGCAGGCAGTATTGGGTGCAGGATGTGATGG
TGGCAGGTGGGATGGAGAGCATGTCCAATGTTCCATATGTAATGAACAGAGGATCAACACCATA
TGGTGGGGTAAAGCTTGAAGATTTGATTGTAAAAGACGGGCTAACTGATGTCTACAATAAAATT
CATATGGGCAGCTGTGCTGAGAATACAGCAAAGAAGCTGAATATTGCACGAAATGAACAGGACG
CTTATGCTATTAATTCTTATACCAGAAGTAAAGCAGCATGGGAAGCTGGGAAATTTGGAAATGA
AGTTATTCCTGTCACAGTTACAGTAAAAGGTCAACCAGATGTAGTGGTGAAAGAAGATGAAGAA
TATAAACGTGTTGATTTTAGCAAAGTTCCAAAGCTGAAGACAGTTTTCCAGAAAGAAAATGGCA
CAGTAACAGCTGCCAATGCCAGTACACTGAATGATGGAGCAGCTGCTCTGGTTCTCATGACGGC
AGATGCAGCGAAGAGGCTCAATGTTACACCACTGGCAAGAATAGTAGCATTTGCTGACGCTGCT
GTAGAACCTATTGATTTTCCAATTGCTCCTGTATATGCTGCATCTATGGTTCTTAAAGATGTGG
GATTGAAAAAAGAAGATATTGCAATGTGGGAAGTAAATGAAGCCTTTAGTCTGGTTGTACTAGC
AAACATTAAAATGTTGGAGATTGATCCCCAAAAAGTGAATATCAATGGAGGAGCTGTTTCTCTG
GGACATCCAATTGGGATGTCTGGAGCCAGGATTGTTGGTCATTTGACTCATGCCTTGAAGCAAG
GAGAATACGGTCTTGCCAGTATTTGCAATGGAGGAGGAGGTGCTTCTGCCATGCTAATTCAGAA
GCTGTAGACAACCTCTGCTATTTAAGGAGACAACCCTATGTGACCAGAAGGCCTGCTGTAATCA
GTGTGACTACTGTGGGTCAGCTTATATTCAGATAAGCTGTTTCATTTTTTATTATTTTCTATGT
TAACTTTTAAAAATCAAAATGATGAAATCCCAAAACATTTTGAAATTAAAAATAAATTTCTTCT
TCTGCTTTTTTCTTGGTAACCTTGAAAAGTTTGATACATTTTTGCATTCTGAGTCTATACTTAT
CGAAATATGGTAGAAATACCAATGTGTAATATTAGTGACTTACATAAGTAGCTAGAAGTTTCCA
TTTGTGAGAACACATTTATATTTTTGAGGATTGTTAAAGGTCAAGTGAATGCTCTTTATAGGTA
ATTTACATTTAGTAAATTACGGTAAATTAAATTACTTCTCTTTACAGTAAGAGTTGGCTATTCT
GGACAAACTAGCAGTGCTTCATATAATCACTCAAACCACAGTGTGTGCAGCAGTACTAGAAACA
AGACAGAAGCCCATGTCCTCAGGGTCTAGAGTGGGGGCAATTTCTTATAACCTCAACATTCAGG
GTTGGGGGAGGTCAAGCAGAAAACCCTGGAGTTTGGGCTCTGAATTACTATAGCAGCATAGAGA
GTGGGAAGGGAGGTAGAAACTGATATGCTGAATGGATATATAAAAAAGGGAACAGATCACCACT
TCCAATACACGACAATGCCTGTTCTTAAGCAGGACAGACTGTAACAGAAGTATCTCGCATTGCA
TTTTATCTGGGAAAAAATTAATTAATTAAAACGCTACAGGCAGGGGCTATGCACACTACCCTCA
ATTGCAGCTCTGAAGAGGGAAAACTCCCCCTCAGGAAGAGGAGGGGGCAGTAAAGGTCATTGTG
TACACATTATCTGTTGGCAAATAATGTATTGTAGATCTTTTGAAGGAGCAAAATGACAATATAT
GGGAGAAATAGATTAGATTGCTCTTCAGATTCAGAGGAAGAGTAGAGTATTTTCAAAAACATCT
GTAATCATCACCAACTTTTGAGGCTTGTTATGTGCTTTATATGTATAAACTCATTTAATTGTCA
CAAAAACTTCTAAGAGTGGGTACCATTATTATCCCTCCTTTATAAACAAGGAAATTGAGGCATA
GAGTAGCTAAATAAATTCCAAGGGCAAAAAGCTGGCTAGGATTCAACTCCAAGTTAGTCAAGCT
CCAGAGCCCACGTTCTTAACTTACTATGCTTTAGTTAAATGCCTTTCAATAATTATCTGCCCCG
ACTTACAAAAACTTCTAACTGAACCAGGAGCTGGATAAGATATAGGAGAAAAGGAAACCCAAAA
CATGAGAATACTTCATTGAAGATAAGCAGAAACTAACATTGCATCCAAAGGTCATTGATCTGGA
AAACATCTGAGAAGTGCTCTGACAATTCTGG

hide sequence

RefSeq Acc Id:

XM_024448514 ⟹ XP_024304282

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	11	108,127,893 - 108,147,603 (+)	NCBI

Sequence:

show sequence

GGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGAAGGCCAACGCAGGAGGATCGCTTGAG
CCCAGGAGTTTGAGACCAGCTTGGTGGGGGGAATCAGATCCTGTTTGTATGCTTATGGAATTAT
CCAGAAGTAAAAGGGGTGAATGATGTAGAGGAGAAGGAAGGGATAACTGTGCCATCTTTGAAAA
GGCAACTGGAAATGGGATCCAGAGTAAAGTGGAGAGAACCAGGGAAGATTCCATTAAACTGGAC
CAGAAGCTTGAAAGAAGAGAAGTGGCTTAGTAAACAAGGAACAAACTAGAAATAAGATATGTGG
AACGGAGTTATGTATCAAAACCCACTTTGAAGGAAGTGGTCATAGTAAGTGCTACAAGAACACC
CATTGGATCTTTTTTAGGCAGCCTTTCCTTGCTGCCAGCCACTAAGCTTGGTTCCATTGCAATT
CAGGGAGCCATTGAAAAGGCAGGGATTCCAAAAGAAGAAGTGAAAGAAGCATACATGGGTAATG
TTCTACAAGGAGGTGAAGGACAAGCTCCTACAAGGCAGGCAGTATTGGGTGCAGGCTTACCTAT
TTCTACTCCATGTACCACCATAAACAAAGTTTGTGCTTCAGGAATGAAAGCCATCATGATGGCC
TCTCAAAGTCTTATGTGTGGACATCAGGATGTGATGGTGGCAGGTGGGATGGAGAGCATGTCCA
ATGTTCCATATGTAATGAACAGAGGATCAACACCATATGGTGGGGTAAAGCTTGAAGATTTGAT
TGTAAAAGACGGGCTAACTGATGTCTACAATAAAATTCATATGGGCAGCTGTGCTGAGAATACA
GCAAAGAAGCTGAATATTGCACGAAATGAACAGGACGCTTATGCTATTAATTCTTATACCAGAA
GTAAAGCAGCATGGGAAGCTGGGAAATTTGGAAATGAAGTTATTCCTGTCACAGTTACAGTAAA
AGGTCAACCAGATGTAGTGGTGAAAGAAGATGAAGAATATAAACGTGTTGATTTTAGCAAAGTT
CCAAAGCTGAAGACAGTTTTCCAGAAAGAAAATGGCACAGTAACAGCTGCCAATGCCAGTACAC
TGAATGATGGAGCAGCTGCTCTGGTTCTCATGACGGCAGATGCAGCGAAGAGGCTCAATGTTAC
ACCACTGGCAAGAATAGTAGCATTTGCTGACGCTGCTGTAGAACCTATTGATTTTCCAATTGCT
CCTGTATATGCTGCATCTATGGTTCTTAAAGATGTGGGATTGAAAAAAGAAGATATTGCAATGT
GGGAAGTAAATGAAGCCTTTAGTCTGGTTGTACTAGCAAACATTAAAATGTTGGAGATTGATCC
CCAAAAAGTGAATATCAATGGAGGAGCTGTTTCTCTGGGACATCCAATTGGGATGTCTGGAGCC
AGGATTGTTGGTCATTTGACTCATGCCTTGAAGCAAGGAGAATACGGTCTTGCCAGTATTTGCA
ATGGAGGAGGAGGTGCTTCTGCCATGCTAATTCAGAAGCTGTAGACAACCTCTGCTATTTAAGG
AGACAACCCTATGTGACCAGAAGGCCTGCTGTAATCAGTGTGACTACTGTGGGTCAGCTTATAT
TCAGATAAGCTGTTTCATTTTTTATTATTTTCTATGTTAACTTTTAAAAATCAAAATGATGAAA
TCCCAAAACATTTTGAAATTAAAAATAAATTTCTTCTTCTGCTTTTTTCTTGGTAACCTTGAAA
A

hide sequence

Protein Sequences


Protein RefSeqs	NP_000010	(Get FASTA)	NCBI Sequence Viewer
	NP_001373606	(Get FASTA)	NCBI Sequence Viewer
	NP_001373607	(Get FASTA)	NCBI Sequence Viewer
	NP_001373608	(Get FASTA)	NCBI Sequence Viewer
	NP_001373610	(Get FASTA)	NCBI Sequence Viewer
	NP_001373611	(Get FASTA)	NCBI Sequence Viewer
	NP_001373614	(Get FASTA)	NCBI Sequence Viewer
	NP_001373615	(Get FASTA)	NCBI Sequence Viewer
	NP_001373616	(Get FASTA)	NCBI Sequence Viewer
	NP_001373617	(Get FASTA)	NCBI Sequence Viewer
	NP_001373618	(Get FASTA)	NCBI Sequence Viewer
	NP_001373619	(Get FASTA)	NCBI Sequence Viewer
	NP_001373620	(Get FASTA)	NCBI Sequence Viewer
	XP_016873171	(Get FASTA)	NCBI Sequence Viewer
	XP_024304282	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAH10942	(Get FASTA)	NCBI Sequence Viewer
	AEE61108	(Get FASTA)	NCBI Sequence Viewer
	BAA01387	(Get FASTA)	NCBI Sequence Viewer
	BAA14278	(Get FASTA)	NCBI Sequence Viewer
	BAG35468	(Get FASTA)	NCBI Sequence Viewer
	EAW67103	(Get FASTA)	NCBI Sequence Viewer
	EAW67104	(Get FASTA)	NCBI Sequence Viewer
	EAW67105	(Get FASTA)	NCBI Sequence Viewer
	P24752	(Get FASTA)	NCBI Sequence Viewer

Reference Sequences

RefSeq Acc Id:	NP_000010 ⟸ NM_000019
- Peptide Label:	isoform b precursor
- UniProtKB:	P24752 (UniProtKB/Swiss-Prot), A0A140VJX1 (UniProtKB/TrEMBL)
- Sequence:	show sequence MAVLAALLRSGARSRSPLLRRLVQEIRYVERSYVSKPTLKEVVIVSATRTPIGSFLGSLSLLPA TKLGSIAIQGAIEKAGIPKEEVKEAYMGNVLQGGEGQAPTRQAVLGAGLPISTPCTTINKVCAS GMKAIMMASQSLMCGHQDVMVAGGMESMSNVPYVMNRGSTPYGGVKLEDLIVKDGLTDVYNKIH MGSCAENTAKKLNIARNEQDAYAINSYTRSKAAWEAGKFGNEVIPVTVTVKGQPDVVVKEDEEY KRVDFSKVPKLKTVFQKENGTVTAANASTLNDGAAALVLMTADAAKRLNVTPLARIVAFADAAV EPIDFPIAPVYAASMVLKDVGLKKEDIAMWEVNEAFSLVVLANIKMLEIDPQKVNINGGAVSLG HPIGMSGARIVGHLTHALKQGEYGLASICNGGGGASAMLIQKL hide sequence

RefSeq Acc Id:

XP_016873171 ⟸ XM_017017682

- Peptide Label:

isoform X2

- Sequence:

show sequence

MFYKEVKDKLLQGRQYWVQDVMVAGGMESMSNVPYVMNRGSTPYGGVKLEDLIVKDGLTDVYNK
IHMGSCAENTAKKLNIARNEQDAYAINSYTRSKAAWEAGKFGNEVIPVTVTVKGQPDVVVKEDE
EYKRVDFSKVPKLKTVFQKENGTVTAANASTLNDGAAALVLMTADAAKRLNVTPLARIVAFADA
AVEPIDFPIAPVYAASMVLKDVGLKKEDIAMWEVNEAFSLVVLANIKMLEIDPQKVNINGGAVS
LGHPIGMSGARIVGHLTHALKQGEYGLASICNGGGGASAMLIQKL

hide sequence

RefSeq Acc Id:

XP_024304282 ⟸ XM_024448514

- Peptide Label:

isoform X1

- Sequence:

show sequence

MGNVLQGGEGQAPTRQAVLGAGLPISTPCTTINKVCASGMKAIMMASQSLMCGHQDVMVAGGME
SMSNVPYVMNRGSTPYGGVKLEDLIVKDGLTDVYNKIHMGSCAENTAKKLNIARNEQDAYAINS
YTRSKAAWEAGKFGNEVIPVTVTVKGQPDVVVKEDEEYKRVDFSKVPKLKTVFQKENGTVTAAN
ASTLNDGAAALVLMTADAAKRLNVTPLARIVAFADAAVEPIDFPIAPVYAASMVLKDVGLKKED
IAMWEVNEAFSLVVLANIKMLEIDPQKVNINGGAVSLGHPIGMSGARIVGHLTHALKQGEYGLA
SICNGGGGASAMLIQKL

hide sequence

RefSeq Acc Id:

ENSP00000500163 ⟸ ENST00000673531

RefSeq Acc Id:

ENSP00000435965 ⟸ ENST00000531813

RefSeq Acc Id:

ENSP00000299355 ⟸ ENST00000299355

RefSeq Acc Id:

ENSP00000436096 ⟸ ENST00000528370

RefSeq Acc Id:

ENSP00000265838 ⟸ ENST00000265838

RefSeq Acc Id:

ENSP00000500444 ⟸ ENST00000672284

RefSeq Acc Id:

ENSP00000500463 ⟸ ENST00000672031

RefSeq Acc Id:

ENSP00000500499 ⟸ ENST00000672008

RefSeq Acc Id:

ENSP00000500366 ⟸ ENST00000672580

RefSeq Acc Id:

ENSP00000500490 ⟸ ENST00000672354

RefSeq Acc Id:

ENSP00000500209 ⟸ ENST00000672367

RefSeq Acc Id:

ENSP00000500928 ⟸ ENST00000672907

RefSeq Acc Id:	NP_001373611 ⟸ NM_001386682
- Peptide Label:	isoform e

RefSeq Acc Id:	NP_001373610 ⟸ NM_001386681
- Peptide Label:	isoform e

RefSeq Acc Id:	NP_001373614 ⟸ NM_001386685
- Peptide Label:	isoform e

RefSeq Acc Id:	NP_001373615 ⟸ NM_001386686
- Peptide Label:	isoform e

RefSeq Acc Id:	NP_001373606 ⟸ NM_001386677
- Peptide Label:	isoform a precursor

RefSeq Acc Id:	NP_001373608 ⟸ NM_001386679
- Peptide Label:	isoform d

RefSeq Acc Id:	NP_001373607 ⟸ NM_001386678
- Peptide Label:	isoform c

RefSeq Acc Id:	NP_001373616 ⟸ NM_001386687
- Peptide Label:	isoform e

RefSeq Acc Id:	NP_001373617 ⟸ NM_001386688
- Peptide Label:	isoform e

RefSeq Acc Id:	NP_001373619 ⟸ NM_001386690
- Peptide Label:	isoform e

RefSeq Acc Id:	NP_001373620 ⟸ NM_001386691
- Peptide Label:	isoform e

RefSeq Acc Id:	NP_001373618 ⟸ NM_001386689
- Peptide Label:	isoform e

Protein Domains

Thiolase_C Thiolase_N

Promoters

RGD ID:

6788748

Promoter ID:

HG_KWN:14111

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, CD4+TCell_12Hour, CD4+TCell_2Hour, HeLa_S3, Jurkat, K562, Lymphoblastoid, NB4

Transcripts:

ENST00000375674, NM_000019, UC001PJW.1, UC001PJX.2

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	11	107,497,261 - 107,497,761 (+)	MPROMDB

RGD ID:

7222011

Promoter ID:

EPDNEW_H16751

Type:

initiation region

Name:

ACAT1_1

Description:

acetyl-CoA acetyltransferase 1

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	11	108,121,567 - 108,121,627	EPDNEW

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
NM_000019.4(ACAT1):c.1138G>A (p.Ala380Thr)	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV000002966]	Chr11:108146334 [GRCh38] Chr11:108017061 [GRCh37] Chr11:11q22.3	pathogenic\|likely pathogenic
NM_000019.4(ACAT1):c.547G>A (p.Gly183Arg)	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV000002967]	Chr11:108139009 [GRCh38] Chr11:108009736 [GRCh37] Chr11:11q22.3	pathogenic\|likely pathogenic
ACAT1, IVS8, G-T, +1	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV000002968]	Chr11:11q22.3-q23.1	pathogenic
NM_000019.4(ACAT1):c.1006-2A>C	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV000002969]	Chr11:108146200 [GRCh38] Chr11:108016927 [GRCh37] Chr11:11q22.3	pathogenic
ACAT1, IVS10, G-C, -1	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV000002970]	Chr11:11q22.3-q23.1	pathogenic
NM_000019.4(ACAT1):c.1163+2T>C	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV000002971]	Chr11:108146361 [GRCh38] Chr11:108017088 [GRCh37] Chr11:11q22.3	pathogenic
NM_000019.4(ACAT1):c.2T>A (p.Met1Lys)	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV000002972]	Chr11:108121608 [GRCh38] Chr11:107992335 [GRCh37] Chr11:11q22.3	pathogenic
NM_000019.4(ACAT1):c.1136G>T (p.Gly379Val)	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV000002973]	Chr11:108146332 [GRCh38] Chr11:108017059 [GRCh37] Chr11:11q22.3	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity
NM_000019.4(ACAT1):c.814C>T (p.Gln272Ter)	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV000002974]\|not provided [RCV000077933]	Chr11:108141688 [GRCh38] Chr11:108012415 [GRCh37] Chr11:11q22.3	pathogenic
NM_000019.4(ACAT1):c.1032_1034AGA[1] (p.Glu345del)	microsatellite	Deficiency of acetyl-CoA acetyltransferase [RCV000002975]	Chr11:108146227..108146229 [GRCh38] Chr11:108016954..108016956 [GRCh37] Chr11:11q22.3	pathogenic\|likely pathogenic
NM_000019.4(ACAT1):c.1083dup (p.Ala362fs)	duplication	Deficiency of acetyl-CoA acetyltransferase [RCV000002976]	Chr11:108146278..108146279 [GRCh38] Chr11:108017005..108017006 [GRCh37] Chr11:11q22.3	pathogenic
NM_000019.4(ACAT1):c.278A>G (p.Asn93Ser)	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV000002977]	Chr11:108134260 [GRCh38] Chr11:108004987 [GRCh37] Chr11:11q22.3	pathogenic\|likely pathogenic
NM_000019.4(ACAT1):c.935T>C (p.Ile312Thr)	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV000002978]	Chr11:108142545 [GRCh38] Chr11:108013272 [GRCh37] Chr11:11q22.3	pathogenic\|likely pathogenic
NM_000019.4(ACAT1):c.997G>C (p.Ala333Pro)	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV000002979]	Chr11:108144039 [GRCh38] Chr11:108014766 [GRCh37] Chr11:11q22.3	pathogenic\|likely pathogenic
NM_000019.4(ACAT1):c.433C>G (p.Gln145Glu)	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV000002980]	Chr11:108135240 [GRCh38] Chr11:108005967 [GRCh37] Chr11:11q22.3	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity
GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	copy number gain	See cases [RCV000053638]	Chr11:100348599..135040246 [GRCh38] Chr11:100219331..134910140 [GRCh37] Chr11:99724541..134415350 [NCBI36] Chr11:11q22.1-25	pathogenic
NM_000019.4(ACAT1):c.-9T>A	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV000336276]\|not specified [RCV000077928]	Chr11:108121598 [GRCh38] Chr11:107992325 [GRCh37] Chr11:11q22.3	benign
NM_000019.4(ACAT1):c.13G>C (p.Ala5Pro)	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV000391653]\|not specified [RCV000077929]	Chr11:108121619 [GRCh38] Chr11:107992346 [GRCh37] Chr11:11q22.3	benign
NM_000019.4(ACAT1):c.471C>A (p.Ser157=)	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV000366294]\|not specified [RCV000077930]	Chr11:108138933 [GRCh38] Chr11:108009660 [GRCh37] Chr11:11q22.3	benign\|likely benign
NM_000019.4(ACAT1):c.472A>G (p.Asn158Asp)	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV000179235]\|not provided [RCV000077931]	Chr11:108138934 [GRCh38] Chr11:108009661 [GRCh37] Chr11:11q22.3	pathogenic\|likely pathogenic
NM_000019.4(ACAT1):c.730+2T>C	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV001193469]\|not provided [RCV000179697]	Chr11:108140217 [GRCh38] Chr11:108010944 [GRCh37] Chr11:11q22.3	pathogenic\|likely pathogenic
NM_000019.4(ACAT1):c.905del (p.Lys302fs)	deletion	not provided [RCV000180451]	Chr11:108142514 [GRCh38] Chr11:108013241 [GRCh37] Chr11:11q22.3	pathogenic
NM_000019.4(ACAT1):c.91C>T (p.Arg31Trp)	single nucleotide variant	not provided [RCV000077935]	Chr11:108131925 [GRCh38] Chr11:108002652 [GRCh37] Chr11:11q22.3	uncertain significance
NM_000019.4(ACAT1):c.1006-4_1006-1delinsAAA	indel	not provided [RCV000173953]	Chr11:108146198..108146201 [GRCh38] Chr11:108016925..108016928 [GRCh37] Chr11:11q22.3	pathogenic
NM_000019.4(ACAT1):c.203G>T (p.Gly68Val)	single nucleotide variant	not provided [RCV000176963]	Chr11:108133902 [GRCh38] Chr11:108004629 [GRCh37] Chr11:11q22.3	likely pathogenic
NM_000019.4(ACAT1):c.765A>T (p.Glu255Asp)	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV000844809]\|not provided [RCV000180091]	Chr11:108141639 [GRCh38] Chr11:108012366 [GRCh37] Chr11:11q22.3	uncertain significance
NM_000019.4(ACAT1):c.766T>A (p.Tyr256Asn)	single nucleotide variant	not provided [RCV000180092]	Chr11:108141640 [GRCh38] Chr11:108012367 [GRCh37] Chr11:11q22.3	uncertain significance
NM_000019.4(ACAT1):c.436-4G>A	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV000309219]\|not specified [RCV000179234]	Chr11:108138894 [GRCh38] Chr11:108009621 [GRCh37] Chr11:11q22.3	benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_000019.4(ACAT1):c.455G>C (p.Gly152Ala)	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV000779680]\|not provided [RCV000179236]	Chr11:108138917 [GRCh38] Chr11:108009644 [GRCh37] Chr11:11q22.3	pathogenic\|likely pathogenic
NM_000019.4(ACAT1):c.473A>G (p.Asn158Ser)	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV000179237]\|not provided [RCV000723373]	Chr11:108138935 [GRCh38] Chr11:108009662 [GRCh37] Chr11:11q22.3	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity
NM_000019.4(ACAT1):c.623G>A (p.Arg208Gln)	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV000844797]\|not provided [RCV000179698]	Chr11:108140108 [GRCh38] Chr11:108010835 [GRCh37] Chr11:11q22.3	likely pathogenic\|uncertain significance
Single allele	deletion	Intellectual disability [RCV001293382]	Chr11:118359328..118372573 [GRCh37] Chr11:11p15.3-q23.3	pathogenic
NM_000019.4(ACAT1):c.60G>C (p.Arg20=)	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV001086332]\|not provided [RCV000173048]	Chr11:108121666 [GRCh38] Chr11:107992393 [GRCh37] Chr11:11q22.3	benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_000019.4(ACAT1):c.941-14C>T	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV001106416]\|not provided [RCV000173616]	Chr11:108143969 [GRCh38] Chr11:108014696 [GRCh37] Chr11:11q22.3	uncertain significance
NM_000019.4(ACAT1):c.941-7del	deletion	not provided [RCV000173617]	Chr11:108143970 [GRCh38] Chr11:108014703 [GRCh37] Chr11:11q22.3	uncertain significance
GRCh38/hg38 11q22.3(chr11:107479091-108222532)x1	copy number loss	See cases [RCV000136500]	Chr11:107479091..108222532 [GRCh38] Chr11:107349817..108093259 [GRCh37] Chr11:106855027..107598469 [NCBI36] Chr11:11q22.3	pathogenic
GRCh38/hg38 11q14.3-22.3(chr11:91086659-109595582)x1	copy number loss	See cases [RCV000138038]	Chr11:91086659..109595582 [GRCh38] Chr11:90819827..109466308 [GRCh37] Chr11:90459475..108971518 [NCBI36] Chr11:11q14.3-22.3	pathogenic
NM_000019.4(ACAT1):c.-15C>G	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV000297661]\|not specified [RCV000152742]	Chr11:108121592 [GRCh38] Chr11:107992319 [GRCh37] Chr11:11q22.3	benign\|likely benign
NM_000019.4(ACAT1):c.941-15_941-14del	deletion	not specified [RCV000152745]	Chr11:108143958..108143959 [GRCh38] Chr11:108014685..108014686 [GRCh37] Chr11:11q22.3	benign
NM_000019.4(ACAT1):c.444_445del (p.Met148fs)	deletion	Deficiency of acetyl-CoA acetyltransferase [RCV000179238]\|not provided [RCV000152743]	Chr11:108138906..108138907 [GRCh38] Chr11:108009633..108009634 [GRCh37] Chr11:11q22.3	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity
NM_000019.4(ACAT1):c.826+1G>T	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV000180090]\|not provided [RCV000790759]	Chr11:108141701 [GRCh38] Chr11:108012428 [GRCh37] Chr11:11q22.3	pathogenic
NM_000019.4(ACAT1):c.149del (p.Thr50fs)	deletion	Deficiency of acetyl-CoA acetyltransferase [RCV000190421]	Chr11:108133848 [GRCh38] Chr11:108004575 [GRCh37] Chr11:11q22.3	pathogenic
NM_000019.4(ACAT1):c.757G>A (p.Asp253Asn)	single nucleotide variant	Inborn genetic diseases [RCV000210547]	Chr11:108141631 [GRCh38] Chr11:108012358 [GRCh37] Chr11:11q22.3	pathogenic\|likely pathogenic
GRCh37/hg19 11q22.3(chr11:107554267-108004957)x3	copy number gain	Premature ovarian failure [RCV000225269]	Chr11:107554267..108004957 [GRCh37] Chr11:11q22.3	benign
NM_000019.4(ACAT1):c.182_184TGC[1] (p.Leu62del)	microsatellite	not provided [RCV000756959]	Chr11:108133881..108133883 [GRCh38] Chr11:108004608..108004610 [GRCh37] Chr11:11q22.3	uncertain significance
NM_000019.4(ACAT1):c.653C>T (p.Ser218Phe)	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV000239383]	Chr11:108140138 [GRCh38] Chr11:108010865 [GRCh37] Chr11:11q22.3	likely pathogenic
NM_000019.4(ACAT1):c.903G>A (p.Ala301=)	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV000369451]	Chr11:108142513 [GRCh38] Chr11:108013240 [GRCh37] Chr11:11q22.3	benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_000019.4(ACAT1):c.1217A>G (p.Glu406Gly)	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV000371458]	Chr11:108147323 [GRCh38] Chr11:108018050 [GRCh37] Chr11:11q22.3	uncertain significance
NM_000019.3(ACAT1):c.*507G>A	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV000287170]	Chr11:108147897 [GRCh38] Chr11:108018624 [GRCh37] Chr11:11q22.3	benign\|likely benign
NM_000019.3(ACAT1):c.*599A>C	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV000348219]	Chr11:108147989 [GRCh38] Chr11:108018716 [GRCh37] Chr11:11q22.3	benign
NM_000019.4(ACAT1):c.532T>C (p.Leu178=)	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV000269072]	Chr11:108138994 [GRCh38] Chr11:108009721 [GRCh37] Chr11:11q22.3	uncertain significance
NM_000019.4(ACAT1):c.770A>C (p.Lys257Thr)	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV000326429]	Chr11:108141644 [GRCh38] Chr11:108012371 [GRCh37] Chr11:11q22.3	uncertain significance
NM_000019.3(ACAT1):c.*703T>C	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV000288612]	Chr11:108148093 [GRCh38] Chr11:108018820 [GRCh37] Chr11:11q22.3	uncertain significance
NM_000019.3(ACAT1):c.*753C>T	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV000350632]	Chr11:108148143 [GRCh38] Chr11:108018870 [GRCh37] Chr11:11q22.3	likely benign\|uncertain significance
NM_000019.4(ACAT1):c.978A>C (p.Pro326=)	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV000330121]	Chr11:108144020 [GRCh38] Chr11:108014747 [GRCh37] Chr11:11q22.3	benign\|likely benign
NM_000019.3(ACAT1):c.*555A>G	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV000378326]	Chr11:108147945 [GRCh38] Chr11:108018672 [GRCh37] Chr11:11q22.3	benign\|likely benign
NM_000019.4(ACAT1):c.*179T>G	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV000310094]	Chr11:108147569 [GRCh38] Chr11:108018296 [GRCh37] Chr11:11q22.3	benign\|likely benign
NM_000019.4(ACAT1):c.291A>T (p.Gly97=)	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV000403383]	Chr11:108134273 [GRCh38] Chr11:108005000 [GRCh37] Chr11:11q22.3	uncertain significance
NM_000019.3(ACAT1):c.*291A>C	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV000275120]	Chr11:108147681 [GRCh38] Chr11:108018408 [GRCh37] Chr11:11q22.3	uncertain significance
NM_000019.4(ACAT1):c.941-14_941-13insCT	insertion	Deficiency of acetyl-CoA acetyltransferase [RCV000277227]	Chr11:108143969..108143970 [GRCh38] Chr11:108014696..108014697 [GRCh37] Chr11:11q22.3	uncertain significance
NM_000019.4(ACAT1):c.-28T>A	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV000294268]	Chr11:108121579 [GRCh38] Chr11:107992306 [GRCh37] Chr11:11q22.3	benign\|likely benign
NM_000019.4(ACAT1):c.1222G>C (p.Gly408Arg)	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV000279256]	Chr11:108147328 [GRCh38] Chr11:108018055 [GRCh37] Chr11:11q22.3	uncertain significance
NM_000019.3(ACAT1):c.-70T>A	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV000386603]	Chr11:108121537 [GRCh38] Chr11:107992264 [GRCh37] Chr11:11q22.3	uncertain significance
NM_000019.3(ACAT1):c.*250C>T	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV000315243]	Chr11:108147640 [GRCh38] Chr11:108018367 [GRCh37] Chr11:11q22.3	benign\|likely benign
NM_000019.3(ACAT1):c.*214G>C	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV000364064]	Chr11:108147604 [GRCh38] Chr11:108018331 [GRCh37] Chr11:11q22.3	benign\|uncertain significance
NM_000019.3(ACAT1):c.*293A>T	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV000318533]	Chr11:108147683 [GRCh38] Chr11:108018410 [GRCh37] Chr11:11q22.3	benign\|likely benign
NM_000019.3(ACAT1):c.*258G>A	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV000367564]	Chr11:108147648 [GRCh38] Chr11:108018375 [GRCh37] Chr11:11q22.3	likely benign
NM_000019.4(ACAT1):c.1006-10A>G	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV000280960]	Chr11:108146192 [GRCh38] Chr11:108016919 [GRCh37] Chr11:11q22.3	uncertain significance
NM_000019.4(ACAT1):c.1068T>C (p.Phe356=)	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV000319570]	Chr11:108146264 [GRCh38] Chr11:108016991 [GRCh37] Chr11:11q22.3	benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_000019.4(ACAT1):c.-22C>T	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV000391640]	Chr11:108121585 [GRCh38] Chr11:107992312 [GRCh37] Chr11:11q22.3	uncertain significance
NM_000019.3(ACAT1):c.*553T>A	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV000321166]	Chr11:108147943 [GRCh38] Chr11:108018670 [GRCh37] Chr11:11q22.3	uncertain significance
NM_000019.3(ACAT1):c.*393A>G	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV000259964]	Chr11:108147783 [GRCh38] Chr11:108018510 [GRCh37] Chr11:11q22.3	uncertain significance
NM_000019.4(ACAT1):c.*55T>C	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV000283145]	Chr11:108147445 [GRCh38] Chr11:108018172 [GRCh37] Chr11:11q22.3	uncertain significance
NM_000019.4(ACAT1):c.890C>T (p.Thr297Met)	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV000844818]\|not provided [RCV000318454]	Chr11:108142500 [GRCh38] Chr11:108013227 [GRCh37] Chr11:11q22.3	pathogenic\|likely pathogenic
NM_000019.3(ACAT1):c.*344T>C	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV000357042]	Chr11:108147734 [GRCh38] Chr11:108018461 [GRCh37] Chr11:11q22.3	uncertain significance
NM_000019.4(ACAT1):c.-22C>G	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV000337537]	Chr11:108121585 [GRCh38] Chr11:107992312 [GRCh37] Chr11:11q22.3	benign\|likely benign
NM_000019.4(ACAT1):c.*6dup	duplication	Deficiency of acetyl-CoA acetyltransferase [RCV000399813]\|not specified [RCV000266805]	Chr11:108147394..108147395 [GRCh38] Chr11:108018121..108018122 [GRCh37] Chr11:11q22.3	benign\|likely benign
NM_000019.4(ACAT1):c.979A>G (p.Ile327Val)	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV000387013]	Chr11:108144021 [GRCh38] Chr11:108014748 [GRCh37] Chr11:11q22.3	uncertain significance
NM_000019.4(ACAT1):c.1229C>T (p.Ala410Val)	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV000341325]	Chr11:108147335 [GRCh38] Chr11:108018062 [GRCh37] Chr11:11q22.3	uncertain significance
NM_000019.4(ACAT1):c.1253G>A (p.Gly418Asp)	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV000811411]\|not provided [RCV000370142]	Chr11:108147359 [GRCh38] Chr11:108018086 [GRCh37] Chr11:11q22.3	uncertain significance
NM_000019.4(ACAT1):c.1198C>T (p.His400Tyr)	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV000551612]	Chr11:108147304 [GRCh38] Chr11:108018031 [GRCh37] Chr11:11q22.3	uncertain significance
NM_000019.4(ACAT1):c.171C>A (p.Gly57=)	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV001278341]	Chr11:108133870 [GRCh38] Chr11:108004597 [GRCh37] Chr11:11q22.3	uncertain significance
NM_000019.4(ACAT1):c.921A>G (p.Thr307=)	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV001278345]	Chr11:108142531 [GRCh38] Chr11:108013258 [GRCh37] Chr11:11q22.3	uncertain significance
NM_000019.4(ACAT1):c.436G>A (p.Asp146Asn)	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV001278342]	Chr11:108138898 [GRCh38] Chr11:108009625 [GRCh37] Chr11:11q22.3	uncertain significance
NM_000019.4(ACAT1):c.990A>G (p.Val330=)	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV001278346]	Chr11:108144032 [GRCh38] Chr11:108014759 [GRCh37] Chr11:11q22.3	uncertain significance
NM_000019.4(ACAT1):c.1277A>C (p.Lys426Thr)	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV001278348]	Chr11:108147383 [GRCh38] Chr11:108018110 [GRCh37] Chr11:11q22.3	uncertain significance
NM_000019.3(ACAT1):c.*675A>C	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV000399149]	Chr11:108148065 [GRCh38] Chr11:108018792 [GRCh37] Chr11:11q22.3	uncertain significance
NM_000019.4(ACAT1):c.15G>C (p.Ala5=)	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV000305898]	Chr11:108121621 [GRCh38] Chr11:107992348 [GRCh37] Chr11:11q22.3	uncertain significance
NM_000019.3(ACAT1):c.*464A>G	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV000317770]	Chr11:108147854 [GRCh38] Chr11:108018581 [GRCh37] Chr11:11q22.3	uncertain significance
NM_000019.3(ACAT1):c.777_780delAATT	microsatellite	Deficiency of acetyl-CoA acetyltransferase [RCV000345943]	Chr11:108148167..108148170 [GRCh38] Chr11:108018894..108018897 [GRCh37] Chr11:11q22.3	benign
NM_000019.4(ACAT1):c.123_127dup	duplication	Deficiency of acetyl-CoA acetyltransferase [RCV000407590]	Chr11:108147510..108147511 [GRCh38] Chr11:108018237..108018238 [GRCh37] Chr11:11q22.3	uncertain significance
NM_000019.3(ACAT1):c.234_235delCT	deletion	Deficiency of acetyl-CoA acetyltransferase [RCV000407592]	Chr11:108147623..108147624 [GRCh38] Chr11:108018350..108018351 [GRCh37] Chr11:11q22.3	uncertain significance
NM_000019.4(ACAT1):c.*107dup	duplication	Deficiency of acetyl-CoA acetyltransferase [RCV000340417]	Chr11:108147491..108147492 [GRCh38] Chr11:108018218..108018219 [GRCh37] Chr11:11q22.3	uncertain significance
NM_000019.4(ACAT1):c.29G>A (p.Ser10Asn)	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV000358143]	Chr11:108121635 [GRCh38] Chr11:107992362 [GRCh37] Chr11:11q22.3	uncertain significance
NM_000019.3(ACAT1):c.*591A>T	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV000290797]	Chr11:108147981 [GRCh38] Chr11:108018708 [GRCh37] Chr11:11q22.3	uncertain significance
NM_000019.3(ACAT1):c.467_470dupATCA	duplication	Deficiency of acetyl-CoA acetyltransferase [RCV000379304]	Chr11:108147855..108147856 [GRCh38] Chr11:108018582..108018583 [GRCh37] Chr11:11q22.3	uncertain significance
NM_000019.4(ACAT1):c.967A>G (p.Ile323Val)	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV000639012]	Chr11:108144009 [GRCh38] Chr11:108014736 [GRCh37] Chr11:11q22.3	uncertain significance
NM_000019.4(ACAT1):c.983C>T (p.Ala328Val)	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV001276023]\|not specified [RCV000414326]	Chr11:108144025 [GRCh38] Chr11:108014752 [GRCh37] Chr11:11q22.3	uncertain significance
GRCh37/hg19 11q22.3(chr11:107950570-107999380)x1	copy number loss	See cases [RCV000445847]	Chr11:107950570..107999380 [GRCh37] Chr11:11q22.3	likely benign
NM_000019.4(ACAT1):c.1200_1207del (p.His400fs)	deletion	not provided [RCV000424025]	Chr11:108147305..108147312 [GRCh38] Chr11:108018032..108018039 [GRCh37] Chr11:11q22.3	uncertain significance
NM_000019.4(ACAT1):c.622C>T (p.Arg208Ter)	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV000689417]\|not provided [RCV000434420]	Chr11:108140107 [GRCh38] Chr11:108010834 [GRCh37] Chr11:11q22.3	pathogenic
NM_000019.4(ACAT1):c.1199A>G (p.His400Arg)	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV000505498]	Chr11:108147305 [GRCh38] Chr11:108018032 [GRCh37] Chr11:11q22.3	likely pathogenic\|uncertain significance
NM_000019.4(ACAT1):c.85G>T (p.Val29Leu)	single nucleotide variant	not provided [RCV000444703]	Chr11:108131919 [GRCh38] Chr11:108002646 [GRCh37] Chr11:11q22.3	uncertain significance
GRCh37/hg19 11q14.2-22.3(chr11:88152458-109414650)x1	copy number loss	See cases [RCV000510457]	Chr11:88152458..109414650 [GRCh37] Chr11:11q14.2-22.3	pathogenic
NM_000019.4(ACAT1):c.1160T>C (p.Ile387Thr)	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV000662283]\|not provided [RCV000493456]	Chr11:108146356 [GRCh38] Chr11:108017083 [GRCh37] Chr11:11q22.3	pathogenic\|likely pathogenic
NM_000019.4(ACAT1):c.1006-1G>C	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV000002970]\|not provided [RCV000493713]	Chr11:108146201 [GRCh38] Chr11:108016928 [GRCh37] Chr11:11q22.3	pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	copy number gain	See cases [RCV000511729]	Chr11:230616..134938470 [GRCh37] Chr11:11p15.5-q25	pathogenic
NM_000019.4(ACAT1):c.1223G>T (p.Gly408Val)	single nucleotide variant	not provided [RCV000493426]	Chr11:108147329 [GRCh38] Chr11:108018056 [GRCh37] Chr11:11q22.3	uncertain significance
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	copy number gain	See cases [RCV000510881]	Chr11:230616..134938470 [GRCh37] Chr11:11p15.5-q25	pathogenic
NM_000019.3(ACAT1):c.1006-10_1006-9ins171	insertion	Deficiency of acetyl-CoA acetyltransferase [RCV000639013]	Chr11:108146192..108146193 [GRCh38] Chr11:108016919..108016920 [GRCh37] Chr11:11q22.3	uncertain significance
NM_000019.4(ACAT1):c.1033_1034del (p.Glu345fs)	deletion	Deficiency of acetyl-CoA acetyltransferase [RCV000844832]\|not provided [RCV000627576]	Chr11:108146228..108146229 [GRCh38] Chr11:108016955..108016956 [GRCh37] Chr11:11q22.3	pathogenic
NM_000019.4(ACAT1):c.1043del (p.Ala348fs)	deletion	Deficiency of acetyl-CoA acetyltransferase [RCV000721971]	Chr11:108146239 [GRCh38] Chr11:108016966 [GRCh37] Chr11:11q22.3	likely pathogenic
GRCh37/hg19 11q13.4-23.3(chr11:71588805-116680918)x3	copy number gain	not provided [RCV000683374]	Chr11:71588805..116680918 [GRCh37] Chr11:11q13.4-23.3	pathogenic
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3	copy number gain	not provided [RCV000737348]	Chr11:198510..134934063 [GRCh37] Chr11:11p15.5-q25	pathogenic
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3	copy number gain	not provided [RCV000749874]	Chr11:70864..134938470 [GRCh37] Chr11:11p15.5-q25	pathogenic
GRCh37/hg19 11q14.1-23.2(chr11:80053454-113316236)x1	copy number loss	not provided [RCV000737595]	Chr11:80053454..113316236 [GRCh37] Chr11:11q14.1-23.2	pathogenic
NM_000019.4(ACAT1):c.421A>T (p.Met141Leu)	single nucleotide variant	not provided [RCV000761800]	Chr11:108135228 [GRCh38] Chr11:108005955 [GRCh37] Chr11:11q22.3	uncertain significance
NM_000019.4(ACAT1):c.861T>A (p.Asn287Lys)	single nucleotide variant	not provided [RCV000761801]	Chr11:108142471 [GRCh38] Chr11:108013198 [GRCh37] Chr11:11q22.3	uncertain significance
NM_000019.4(ACAT1):c.603A>G (p.Ala201=)	single nucleotide variant	not provided [RCV000929297]	Chr11:108140088 [GRCh38] Chr11:108010815 [GRCh37] Chr11:11q22.3	likely benign
NM_000019.4(ACAT1):c.384A>G (p.Ser128=)	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV000982276]	Chr11:108135191 [GRCh38] Chr11:108005918 [GRCh37] Chr11:11q22.3	likely benign
NM_000019.4(ACAT1):c.436-4G>C	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV000948317]	Chr11:108138894 [GRCh38] Chr11:108009621 [GRCh37] Chr11:11q22.3	likely benign\|conflicting interpretations of pathogenicity
NM_000019.4(ACAT1):c.940+2T>C	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV001042879]	Chr11:108142552 [GRCh38] Chr11:108013279 [GRCh37] Chr11:11q22.3	likely pathogenic
NM_000019.4(ACAT1):c.826+85_826+86insGTAA	insertion	not specified [RCV000779681]	Chr11:108141783..108141784 [GRCh38] Chr11:108012510..108012511 [GRCh37] Chr11:11q22.3	benign
NM_000019.4(ACAT1):c.731-28G>A	single nucleotide variant	not specified [RCV000780812]	Chr11:108141577 [GRCh38] Chr11:108012304 [GRCh37] Chr11:11q22.3	benign
NM_000019.4(ACAT1):c.687G>A (p.Gly229=)	single nucleotide variant	not provided [RCV000978847]	Chr11:108140172 [GRCh38] Chr11:108010899 [GRCh37] Chr11:11q22.3	likely benign
NM_000019.4(ACAT1):c.1221C>T (p.Tyr407=)	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV000929611]	Chr11:108147327 [GRCh38] Chr11:108018054 [GRCh37] Chr11:11q22.3	likely benign
NM_000019.4(ACAT1):c.580-7T>C	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV000940497]	Chr11:108140058 [GRCh38] Chr11:108010785 [GRCh37] Chr11:11q22.3	likely benign
NM_000019.4(ACAT1):c.436-5C>T	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV000871316]	Chr11:108138893 [GRCh38] Chr11:108009620 [GRCh37] Chr11:11q22.3	likely benign
NM_000019.4(ACAT1):c.436-7T>C	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV000979471]	Chr11:108138891 [GRCh38] Chr11:108009618 [GRCh37] Chr11:11q22.3	likely benign
NM_000019.4(ACAT1):c.52dup (p.Leu18fs)	duplication	Deficiency of acetyl-CoA acetyltransferase [RCV000780811]	Chr11:108121653..108121654 [GRCh38] Chr11:107992380..107992381 [GRCh37] Chr11:11q22.3	pathogenic
NM_000019.4(ACAT1):c.768T>C (p.Tyr256=)	single nucleotide variant	not provided [RCV000914922]	Chr11:108141642 [GRCh38] Chr11:108012369 [GRCh37] Chr11:11q22.3	likely benign
NM_000019.4(ACAT1):c.1105A>G (p.Ile369Val)	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV000813429]	Chr11:108146301 [GRCh38] Chr11:108017028 [GRCh37] Chr11:11q22.3	uncertain significance
NM_000019.4(ACAT1):c.274G>A (p.Gly92Ser)	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV000799776]	Chr11:108134256 [GRCh38] Chr11:108004983 [GRCh37] Chr11:11q22.3	uncertain significance
NC_000011.10:g.(?_108147260)_(108147400_?)del	deletion	Deficiency of acetyl-CoA acetyltransferase [RCV000821929]	Chr11:108147260..108147400 [GRCh38] Chr11:108017987..108018127 [GRCh37] Chr11:11q22.3	likely pathogenic
NM_000019.4(ACAT1):c.622C>G (p.Arg208Gly)	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV000801801]	Chr11:108140107 [GRCh38] Chr11:108010834 [GRCh37] Chr11:11q22.3	uncertain significance
GRCh37/hg19 11q22.3(chr11:107546688-108077391)x3	copy number gain	not provided [RCV000849110]	Chr11:107546688..108077391 [GRCh37] Chr11:11q22.3	uncertain significance
GRCh37/hg19 11q22.3-23.3(chr11:104101411-116680918)x1	copy number loss	not provided [RCV000848741]	Chr11:104101411..116680918 [GRCh37] Chr11:11q22.3-23.3	pathogenic
NC_000011.10:g.(?_108138888)_(108140225_?)del	deletion	Deficiency of acetyl-CoA acetyltransferase [RCV000813331]	Chr11:108138888..108140225 [GRCh38] Chr11:108009615..108010952 [GRCh37] Chr11:11q22.3	pathogenic
NM_000019.4(ACAT1):c.1A>G (p.Met1Val)	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV000844765]	Chr11:108121607 [GRCh38] Chr11:107992334 [GRCh37] Chr11:11q22.3	pathogenic
NM_000019.4(ACAT1):c.2T>C (p.Met1Thr)	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV000844766]	Chr11:108121608 [GRCh38] Chr11:107992335 [GRCh37] Chr11:11q22.3	pathogenic
NM_000019.4(ACAT1):c.79A>T (p.Arg27Ter)	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV000844767]	Chr11:108131913 [GRCh38] Chr11:108002640 [GRCh37] Chr11:11q22.3	pathogenic
NM_000019.4(ACAT1):c.81_82AT[1] (p.Tyr28fs)	microsatellite	Deficiency of acetyl-CoA acetyltransferase [RCV000844768]	Chr11:108131915..108131916 [GRCh38] Chr11:108002642..108002643 [GRCh37] Chr11:11q22.3	pathogenic
NM_000019.4(ACAT1):c.84_85TG[3] (p.Glu30fs)	microsatellite	Deficiency of acetyl-CoA acetyltransferase [RCV000844769]	Chr11:108131917..108131918 [GRCh38] Chr11:108002644..108002645 [GRCh37] Chr11:11q22.3	pathogenic
NM_000019.4(ACAT1):c.99T>A (p.Tyr33Ter)	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV000844770]	Chr11:108131933 [GRCh38] Chr11:108002660 [GRCh37] Chr11:11q22.3	pathogenic
NM_000019.4(ACAT1):c.121-3C>G	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV000844771]	Chr11:108133817 [GRCh38] Chr11:108004544 [GRCh37] Chr11:11q22.3	uncertain significance
NM_000019.4(ACAT1):c.121-13T>A	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV000844772]	Chr11:108133807 [GRCh38] Chr11:108004534 [GRCh37] Chr11:11q22.3	pathogenic
NM_000019.4(ACAT1):c.163_167delinsAA (p.Phe55_Leu56delinsLys)	indel	Deficiency of acetyl-CoA acetyltransferase [RCV000844773]	Chr11:108133862..108133866 [GRCh38] Chr11:108004589..108004593 [GRCh37] Chr11:11q22.3	conflicting interpretations of pathogenicity\|uncertain significance
NM_000019.4(ACAT1):c.218A>C (p.Gln73Pro)	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV000844774]	Chr11:108133917 [GRCh38] Chr11:108004644 [GRCh37] Chr11:11q22.3	likely pathogenic
NM_000019.4(ACAT1):c.248_250AAG[2] (p.Glu85del)	microsatellite	Deficiency of acetyl-CoA acetyltransferase [RCV000844775]	Chr11:108134230..108134232 [GRCh38] Chr11:108004957..108004959 [GRCh37] Chr11:11q22.3	likely pathogenic\|conflicting interpretations of pathogenicity
NM_000019.4(ACAT1):c.286C>T (p.Gln96Ter)	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV000844776]	Chr11:108134268 [GRCh38] Chr11:108004995 [GRCh37] Chr11:11q22.3	pathogenic
NM_000019.4(ACAT1):c.299G>A (p.Gly100Glu)	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV000844777]	Chr11:108134281 [GRCh38] Chr11:108005008 [GRCh37] Chr11:11q22.3	uncertain significance
NM_000019.4(ACAT1):c.301C>A (p.Gln101Lys)	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV000844778]	Chr11:108134283 [GRCh38] Chr11:108005010 [GRCh37] Chr11:11q22.3	uncertain significance
NM_000019.4(ACAT1):c.334+1G>A	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV000844779]	Chr11:108134317 [GRCh38] Chr11:108005044 [GRCh37] Chr11:11q22.3	pathogenic
NM_000019.4(ACAT1):c.354_355delinsG (p.Cys119fs)	indel	Deficiency of acetyl-CoA acetyltransferase [RCV000844780]	Chr11:108135161..108135162 [GRCh38] Chr11:108005888..108005889 [GRCh37] Chr11:11q22.3	pathogenic
NM_000019.4(ACAT1):c.370A>G (p.Lys124Glu)	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV000844781]	Chr11:108135177 [GRCh38] Chr11:108005904 [GRCh37] Chr11:11q22.3	likely pathogenic
NM_000019.4(ACAT1):c.371A>G (p.Lys124Arg)	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV000844782]	Chr11:108135178 [GRCh38] Chr11:108005905 [GRCh37] Chr11:11q22.3	likely pathogenic
NM_000019.4(ACAT1):c.377G>C (p.Cys126Ser)	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV000844783]	Chr11:108135184 [GRCh38] Chr11:108005911 [GRCh37] Chr11:11q22.3	likely pathogenic
NM_000019.4(ACAT1):c.380C>T (p.Ala127Val)	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV000844784]	Chr11:108135187 [GRCh38] Chr11:108005914 [GRCh37] Chr11:11q22.3	pathogenic
NM_000019.4(ACAT1):c.395C>G (p.Ala132Gly)	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV000844785]	Chr11:108135202 [GRCh38] Chr11:108005929 [GRCh37] Chr11:11q22.3	likely pathogenic
NM_000019.4(ACAT1):c.414_415del (p.Leu140fs)	deletion	Deficiency of acetyl-CoA acetyltransferase [RCV000844786]	Chr11:108135220..108135221 [GRCh38] Chr11:108005947..108005948 [GRCh37] Chr11:11q22.3	pathogenic
NM_000019.4(ACAT1):c.431A>C (p.His144Pro)	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV000844787]	Chr11:108135238 [GRCh38] Chr11:108005965 [GRCh37] Chr11:11q22.3	likely pathogenic
NM_000019.4(ACAT1):c.435+1G>A	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV000844788]	Chr11:108135243 [GRCh38] Chr11:108005970 [GRCh37] Chr11:11q22.3	pathogenic
NM_000019.4(ACAT1):c.446del (p.Val149fs)	deletion	Deficiency of acetyl-CoA acetyltransferase [RCV000844789]	Chr11:108138908 [GRCh38] Chr11:108009635 [GRCh37] Chr11:11q22.3	pathogenic
NM_000019.4(ACAT1):c.460G>A (p.Glu154Lys)	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV000844790]	Chr11:108138922 [GRCh38] Chr11:108009649 [GRCh37] Chr11:11q22.3	uncertain significance
NM_000019.4(ACAT1):c.462_482delinsTCCTC (p.Glu154fs)	indel	Deficiency of acetyl-CoA acetyltransferase [RCV000844791]	Chr11:108138924..108138944 [GRCh38] Chr11:108009651..108009671 [GRCh37] Chr11:11q22.3	pathogenic
NM_000019.4(ACAT1):c.534G>T (p.Leu178Phe)	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV000844792]	Chr11:108138996 [GRCh38] Chr11:108009723 [GRCh37] Chr11:11q22.3	uncertain significance
NM_000019.4(ACAT1):c.556G>T (p.Asp186Tyr)	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV000844793]	Chr11:108139018 [GRCh38] Chr11:108009745 [GRCh37] Chr11:11q22.3	likely pathogenic
NM_000019.4(ACAT1):c.578T>C (p.Met193Thr)	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV000844794]	Chr11:108139040 [GRCh38] Chr11:108009767 [GRCh37] Chr11:11q22.3	pathogenic\|likely pathogenic
NM_000019.4(ACAT1):c.578T>G (p.Met193Arg)	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV000844795]	Chr11:108139040 [GRCh38] Chr11:108009767 [GRCh37] Chr11:11q22.3	pathogenic\|likely pathogenic
NM_000019.4(ACAT1):c.602C>T (p.Ala201Val)	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV000844796]	Chr11:108140087 [GRCh38] Chr11:108010814 [GRCh37] Chr11:11q22.3	uncertain significance
NM_000019.4(ACAT1):c.655T>C (p.Tyr219His)	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV000844798]	Chr11:108140140 [GRCh38] Chr11:108010867 [GRCh37] Chr11:11q22.3	likely pathogenic
NM_000019.4(ACAT1):c.643_644delinsAA (p.Ala215Asn)	indel	Deficiency of acetyl-CoA acetyltransferase [RCV000844799]	Chr11:108140128..108140129 [GRCh38] Chr11:108010855..108010856 [GRCh37] Chr11:11q22.3	likely pathogenic
NM_000019.4(ACAT1):c.664A>C (p.Ser222Arg)	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV000844800]	Chr11:108140149 [GRCh38] Chr11:108010876 [GRCh37] Chr11:11q22.3	uncertain significance
NM_000019.4(ACAT1):c.674C>A (p.Ala225Glu)	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV000844801]	Chr11:108140159 [GRCh38] Chr11:108010886 [GRCh37] Chr11:11q22.3	likely pathogenic
NM_000019.4(ACAT1):c.730+1G>A	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV000844802]	Chr11:108140216 [GRCh38] Chr11:108010943 [GRCh37] Chr11:11q22.3	pathogenic
NM_000019.4(ACAT1):c.731-46_752del	deletion	Deficiency of acetyl-CoA acetyltransferase [RCV000844803]	Chr11:108141555..108141622 [GRCh38] Chr11:108012282..108012349 [GRCh37] Chr11:11q22.3	pathogenic
NM_000019.4(ACAT1):c.754_755insCT (p.Glu252fs)	insertion	Deficiency of acetyl-CoA acetyltransferase [RCV000844804]	Chr11:108141628..108141629 [GRCh38] Chr11:108012355..108012356 [GRCh37] Chr11:11q22.3	pathogenic
NM_000019.4(ACAT1):c.753_755AGA[1] (p.Glu252del)	microsatellite	Deficiency of acetyl-CoA acetyltransferase [RCV000844805]	Chr11:108141626..108141628 [GRCh38] Chr11:108012353..108012355 [GRCh37] Chr11:11q22.3	likely pathogenic
NM_000019.4(ACAT1):c.759T>A (p.Asp253Glu)	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV000844806]	Chr11:108141633 [GRCh38] Chr11:108012360 [GRCh37] Chr11:11q22.3	likely pathogenic
NM_000019.4(ACAT1):c.760G>A (p.Glu254Lys)	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV000844807]	Chr11:108141634 [GRCh38] Chr11:108012361 [GRCh37] Chr11:11q22.3	uncertain significance
NM_000019.4(ACAT1):c.764A>C (p.Glu255Ala)	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV000844808]	Chr11:108141638 [GRCh38] Chr11:108012365 [GRCh37] Chr11:11q22.3	uncertain significance
NC_000011.10:g.108141701G>T	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV000844810]		pathogenic
NM_000019.4(ACAT1):c.826+5G>T	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV000844811]	Chr11:108141705 [GRCh38] Chr11:108012432 [GRCh37] Chr11:11q22.3	likely pathogenic
NM_000019.4(ACAT1):c.826+5_826+9del	deletion	Deficiency of acetyl-CoA acetyltransferase [RCV000844812]	Chr11:108141705..108141709 [GRCh38] Chr11:108012432..108012436 [GRCh37] Chr11:11q22.3	likely pathogenic
NM_000019.4(ACAT1):c.829A>C (p.Thr277Pro)	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV000844813]	Chr11:108142439 [GRCh38] Chr11:108013166 [GRCh37] Chr11:11q22.3	uncertain significance
NM_000019.4(ACAT1):c.844A>C (p.Asn282His)	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV000844814]	Chr11:108142454 [GRCh38] Chr11:108013181 [GRCh37] Chr11:11q22.3	likely pathogenic
NM_000019.4(ACAT1):c.851G>A (p.Ser284Asn)	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV000844815]	Chr11:108142461 [GRCh38] Chr11:108013188 [GRCh37] Chr11:11q22.3	uncertain significance
NM_000019.4(ACAT1):c.854C>T (p.Thr285Ile)	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV000844816]	Chr11:108142464 [GRCh38] Chr11:108013191 [GRCh37] Chr11:11q22.3	uncertain significance
NM_000019.4(ACAT1):c.890C>A (p.Thr297Lys)	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV000844817]	Chr11:108142500 [GRCh38] Chr11:108013227 [GRCh37] Chr11:11q22.3	likely pathogenic\|conflicting interpretations of pathogenicity
NM_000019.4(ACAT1):c.901G>C (p.Ala301Pro)	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV000844819]	Chr11:108142511 [GRCh38] Chr11:108013238 [GRCh37] Chr11:11q22.3	likely pathogenic
NM_000019.4(ACAT1):c.940+1G>T	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV000844820]	Chr11:108142551 [GRCh38] Chr11:108013278 [GRCh37] Chr11:11q22.3	pathogenic
NM_000019.4(ACAT1):c.941-9T>A	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV000844821]	Chr11:108143974 [GRCh38] Chr11:108014701 [GRCh37] Chr11:11q22.3	pathogenic
NM_000019.4(ACAT1):c.947_949dup (p.Ala316dup)	duplication	Deficiency of acetyl-CoA acetyltransferase [RCV000844822]	Chr11:108143986..108143987 [GRCh38] Chr11:108014713..108014714 [GRCh37] Chr11:11q22.3	uncertain significance
NM_000019.4(ACAT1):c.949G>A (p.Asp317Asn)	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV000844823]	Chr11:108143991 [GRCh38] Chr11:108014718 [GRCh37] Chr11:11q22.3	pathogenic
NM_000019.4(ACAT1):c.951C>T (p.Asp317=)	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV000844824]	Chr11:108143993 [GRCh38] Chr11:108014720 [GRCh37] Chr11:11q22.3	pathogenic
NM_000019.4(ACAT1):c.968T>C (p.Ile323Thr)	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV000844825]	Chr11:108144010 [GRCh38] Chr11:108014737 [GRCh37] Chr11:11q22.3	likely pathogenic
NC_000011.10:g.108146200A>C	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV000844826]		pathogenic
NC_000011.10:g.108146201G>C	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV000844827]		pathogenic
NM_000019.4(ACAT1):c.1006-1G>A	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV000844828]	Chr11:108146201 [GRCh38] Chr11:108016928 [GRCh37] Chr11:11q22.3	pathogenic
NM_000019.4(ACAT1):c.1013_1016dup (p.Asp339fs)	duplication	Deficiency of acetyl-CoA acetyltransferase [RCV000844829]	Chr11:108146207..108146208 [GRCh38] Chr11:108016934..108016935 [GRCh37] Chr11:11q22.3	pathogenic
NM_000019.4(ACAT1):c.1016_1018dup (p.Asp339dup)	duplication	Deficiency of acetyl-CoA acetyltransferase [RCV000844830]	Chr11:108146210..108146211 [GRCh38] Chr11:108016937..108016938 [GRCh37] Chr11:11q22.3	likely pathogenic
NM_000019.4(ACAT1):c.1032dup (p.Glu345fs)	duplication	Deficiency of acetyl-CoA acetyltransferase [RCV000844831]	Chr11:108146222..108146223 [GRCh38] Chr11:108016949..108016950 [GRCh37] Chr11:11q22.3	pathogenic
NM_000019.4(ACAT1):c.1040T>C (p.Ile347Thr)	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV000844833]	Chr11:108146236 [GRCh38] Chr11:108016963 [GRCh37] Chr11:11q22.3	likely pathogenic
NM_000019.4(ACAT1):c.1059T>A (p.Asn353Lys)	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV000844834]	Chr11:108146255 [GRCh38] Chr11:108016982 [GRCh37] Chr11:11q22.3	likely pathogenic
NM_000019.4(ACAT1):c.1059T>G (p.Asn353Lys)	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV000844835]	Chr11:108146255 [GRCh38] Chr11:108016982 [GRCh37] Chr11:11q22.3	likely pathogenic
NM_000019.4(ACAT1):c.1061A>T (p.Glu354Val)	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV000844836]	Chr11:108146257 [GRCh38] Chr11:108016984 [GRCh37] Chr11:11q22.3	likely pathogenic
NM_000019.4(ACAT1):c.1124A>G (p.Asn375Ser)	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV000844837]	Chr11:108146320 [GRCh38] Chr11:108017047 [GRCh37] Chr11:11q22.3	pathogenic
NM_000019.4(ACAT1):c.1163G>A (p.Gly388Glu)	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV000844838]	Chr11:108146359 [GRCh38] Chr11:108017086 [GRCh37] Chr11:11q22.3	pathogenic
NC_000011.10:g.108146361T>C	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV000844839]		pathogenic
NM_000019.4(ACAT1):c.1167G>A (p.Met389Ile)	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV000844840]	Chr11:108147273 [GRCh38] Chr11:108018000 [GRCh37] Chr11:11q22.3	uncertain significance
NM_000019.4(ACAT1):c.1168T>C (p.Ser390Pro)	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV000844841]	Chr11:108147274 [GRCh38] Chr11:108018001 [GRCh37] Chr11:11q22.3	likely pathogenic
NM_000019.4(ACAT1):c.1189C>G (p.His397Asp)	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV000844842]	Chr11:108147295 [GRCh38] Chr11:108018022 [GRCh37] Chr11:11q22.3	likely pathogenic
NM_000019.4(ACAT1):c.1223_1226dup (p.Ala410fs)	duplication	Deficiency of acetyl-CoA acetyltransferase [RCV000844843]	Chr11:108147328..108147329 [GRCh38] Chr11:108018055..108018056 [GRCh37] Chr11:11q22.3	pathogenic
NM_000019.4(ACAT1):c.1241_1245delinsGT (p.Asn414_Gly415delinsSer)	indel	Deficiency of acetyl-CoA acetyltransferase [RCV000844844]	Chr11:108147347..108147351 [GRCh38] Chr11:108018074..108018078 [GRCh37] Chr11:11q22.3	likely pathogenic
NM_000019.4(ACAT1):c.120+374_731-68delinsTAA	indel	Deficiency of acetyl-CoA acetyltransferase [RCV000844845]	Chr11:108132328..108141537 [GRCh38] Chr11:108003055..108012264 [GRCh37] Chr11:11q22.3	pathogenic
NM_000019.3:c.(120+1_121-1)_(344+1_345-1)del	deletion	Deficiency of acetyl-CoA acetyltransferase [RCV000844846]		pathogenic
NM_000019.3:c.(72+1_73-1)_(344+1_345-1)del	deletion	Deficiency of acetyl-CoA acetyltransferase [RCV000844847]		pathogenic
NM_000019.3:c.(730+1_731-1)_(940+1_941-1)dup	duplication	Deficiency of acetyl-CoA acetyltransferase [RCV000844848]		pathogenic
NM_000019.3:c.(72+1_73-1)_(435+1_436-1)del	deletion	Deficiency of acetyl-CoA acetyltransferase [RCV000844849]		pathogenic
NM_000019.4(ACAT1):c.507A>T (p.Pro169=)	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV000981387]	Chr11:108138969 [GRCh38] Chr11:108009696 [GRCh37] Chr11:11q22.3	likely benign
NM_000019.4(ACAT1):c.483T>C (p.Tyr161=)	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV000979548]	Chr11:108138945 [GRCh38] Chr11:108009672 [GRCh37] Chr11:11q22.3	likely benign
NM_000019.4(ACAT1):c.64_72+10del	deletion	Deficiency of acetyl-CoA acetyltransferase [RCV001045131]	Chr11:108121668..108121686 [GRCh38] Chr11:107992395..107992413 [GRCh37] Chr11:11q22.3	likely pathogenic
GRCh37/hg19 11q22.3-23.2(chr11:103320065-114349787)x1	copy number loss	not provided [RCV001006439]	Chr11:103320065..114349787 [GRCh37] Chr11:11q22.3-23.2	pathogenic
NM_000019.4(ACAT1):c.140C>T (p.Ala47Val)	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV001231845]	Chr11:108133839 [GRCh38] Chr11:108004566 [GRCh37] Chr11:11q22.3	uncertain significance
NM_000019.4(ACAT1):c.575A>G (p.His192Arg)	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV001196559]	Chr11:108139037 [GRCh38] Chr11:108009764 [GRCh37] Chr11:11q22.3	uncertain significance
NM_000019.4(ACAT1):c.826+2T>G	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV001196560]	Chr11:108141702 [GRCh38] Chr11:108012429 [GRCh37] Chr11:11q22.3	likely pathogenic
NC_000011.10:g.108147755C>T	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV001103447]	Chr11:108147755 [GRCh38] Chr11:108018482 [GRCh37] Chr11:11q22.3	uncertain significance
NC_000011.10:g.108147774A>C	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV001103448]	Chr11:108147774 [GRCh38] Chr11:108018501 [GRCh37] Chr11:11q22.3	uncertain significance
NC_000011.10:g.108148058G>T	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV001106509]	Chr11:108148058 [GRCh38] Chr11:108018785 [GRCh37] Chr11:11q22.3	uncertain significance
NM_000019.4(ACAT1):c.721A>G (p.Thr241Ala)	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV001105287]	Chr11:108140206 [GRCh38] Chr11:108010933 [GRCh37] Chr11:11q22.3	uncertain significance
NM_000019.4(ACAT1):c.229del (p.Glu77fs)	deletion	Deficiency of acetyl-CoA acetyltransferase [RCV001212068]	Chr11:108133928 [GRCh38] Chr11:108004655 [GRCh37] Chr11:11q22.3	pathogenic
NM_000019.4(ACAT1):c.918T>A (p.Val306=)	single nucleotide variant	not provided [RCV000927580]	Chr11:108142528 [GRCh38] Chr11:108013255 [GRCh37] Chr11:11q22.3	likely benign
NM_000019.4(ACAT1):c.239-8T>A	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV000907288]	Chr11:108134213 [GRCh38] Chr11:108004940 [GRCh37] Chr11:11q22.3	likely benign\|conflicting interpretations of pathogenicity
NM_000019.4(ACAT1):c.480A>G (p.Pro160=)	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV000973906]	Chr11:108138942 [GRCh38] Chr11:108009669 [GRCh37] Chr11:11q22.3	benign
NM_000019.4(ACAT1):c.622C>A (p.Arg208=)	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV000931857]	Chr11:108140107 [GRCh38] Chr11:108010834 [GRCh37] Chr11:11q22.3	likely benign
NM_000019.4(ACAT1):c.772C>T (p.Arg258Cys)	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV000910746]	Chr11:108141646 [GRCh38] Chr11:108012373 [GRCh37] Chr11:11q22.3	likely benign
NM_000019.4(ACAT1):c.816G>T (p.Gln272His)	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV001239124]	Chr11:108141690 [GRCh38] Chr11:108012417 [GRCh37] Chr11:11q22.3	uncertain significance
NM_000019.4(ACAT1):c.-5C>T	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV001108546]	Chr11:108121602 [GRCh38] Chr11:107992329 [GRCh37] Chr11:11q22.3	uncertain significance
NM_000019.4(ACAT1):c.1191T>C (p.His397=)	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV001108623]	Chr11:108147297 [GRCh38] Chr11:108018024 [GRCh37] Chr11:11q22.3	uncertain significance
NM_000019.4(ACAT1):c.34G>A (p.Ala12Thr)	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV001243860]	Chr11:108121640 [GRCh38] Chr11:107992367 [GRCh37] Chr11:11q22.3	uncertain significance
NM_000019.4(ACAT1):c.410_418delinsT (p.Ser137fs)	indel	Deficiency of acetyl-CoA acetyltransferase [RCV000985044]	Chr11:108135217..108135225 [GRCh38] Chr11:108005944..108005952 [GRCh37] Chr11:11q22.3	likely pathogenic
GRCh37/hg19 11q22.3-23.3(chr11:105699599-114524876)x1	copy number loss	not provided [RCV001006445]	Chr11:105699599..114524876 [GRCh37] Chr11:11q22.3-23.3	pathogenic
NM_000019.4(ACAT1):c.378T>C (p.Cys126=)	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV001103374]	Chr11:108135185 [GRCh38] Chr11:108005912 [GRCh37] Chr11:11q22.3	uncertain significance
NC_000011.10:g.108147787C>T	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV001105368]	Chr11:108147787 [GRCh38] Chr11:108018514 [GRCh37] Chr11:11q22.3	uncertain significance
NC_000011.10:g.108147964G>C	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV001105369]	Chr11:108147964 [GRCh38] Chr11:108018691 [GRCh37] Chr11:11q22.3	uncertain significance
NM_000019.4(ACAT1):c.642T>G (p.Tyr214Ter)	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV001071621]	Chr11:108140127 [GRCh38] Chr11:108010854 [GRCh37] Chr11:11q22.3	pathogenic
NC_000011.10:g.(?_108121597)_(108147400_?)del	deletion	Deficiency of acetyl-CoA acetyltransferase [RCV001033421]	Chr11:107992324..108018127 [GRCh37] Chr11:11q22.3	pathogenic
NC_000011.10:g.(?_108121587)_(108365528_?)dup	duplication	Ataxia-telangiectasia syndrome [RCV001031253]	Chr11:107992314..108236255 [GRCh37] Chr11:11q22.3	uncertain significance
NM_000019.4(ACAT1):c.1028A>G (p.Lys343Arg)	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV001247395]	Chr11:108146224 [GRCh38] Chr11:108016951 [GRCh37] Chr11:11q22.3	likely benign\|uncertain significance
NM_000019.4(ACAT1):c.1253_1255dup (p.Gly418dup)	duplication	Deficiency of acetyl-CoA acetyltransferase [RCV001057802]	Chr11:108147357..108147358 [GRCh38] Chr11:108018084..108018085 [GRCh37] Chr11:11q22.3	uncertain significance
NM_000019.4(ACAT1):c.1181_1211dup (p.Gln404fs)	duplication	Deficiency of acetyl-CoA acetyltransferase [RCV001058332]	Chr11:108147285..108147286 [GRCh38] Chr11:108018012..108018013 [GRCh37] Chr11:11q22.3	pathogenic
NM_000019.4(ACAT1):c.1049G>A (p.Trp350Ter)	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV001064187]	Chr11:108146245 [GRCh38] Chr11:108016972 [GRCh37] Chr11:11q22.3	pathogenic
NM_000019.4(ACAT1):c.941-13T>C	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV001106417]	Chr11:108143970 [GRCh38] Chr11:108014697 [GRCh37] Chr11:11q22.3	uncertain significance
NM_000019.4(ACAT1):c.155T>C (p.Ile52Thr)	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV001103372]	Chr11:108133854 [GRCh38] Chr11:108004581 [GRCh37] Chr11:11q22.3	uncertain significance
NM_000019.4(ACAT1):c.1279C>A (p.Leu427Met)	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV001108624]	Chr11:108147385 [GRCh38] Chr11:108018112 [GRCh37] Chr11:11q22.3	uncertain significance
NM_000019.4(ACAT1):c.239-7A>G	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV001103373]	Chr11:108134214 [GRCh38] Chr11:108004941 [GRCh37] Chr11:11q22.3	uncertain significance
NM_000019.4(ACAT1):c.754G>A (p.Glu252Lys)	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV001105288]	Chr11:108141628 [GRCh38] Chr11:108012355 [GRCh37] Chr11:11q22.3	uncertain significance
NM_000019.4(ACAT1):c.858G>A (p.Leu286=)	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV001105289]	Chr11:108142468 [GRCh38] Chr11:108013195 [GRCh37] Chr11:11q22.3	uncertain significance
NM_000019.4(ACAT1):c.5C>T (p.Ala2Val)	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV001337631]	Chr11:108121611 [GRCh38] Chr11:107992338 [GRCh37] Chr11:11q22.3	uncertain significance
NM_000019.4(ACAT1):c.637G>A (p.Ala213Thr)	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV001278343]	Chr11:108140122 [GRCh38] Chr11:108010849 [GRCh37] Chr11:11q22.3	uncertain significance
NM_000019.4(ACAT1):c.709C>A (p.Pro237Thr)	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV001350132]	Chr11:108140194 [GRCh38] Chr11:108010921 [GRCh37] Chr11:11q22.3	uncertain significance
NM_000019.4(ACAT1):c.1003A>G (p.Met335Val)	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV001343624]	Chr11:108144045 [GRCh38] Chr11:108014772 [GRCh37] Chr11:11q22.3	uncertain significance
NM_000019.4(ACAT1):c.418C>T (p.Leu140Phe)	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV001299299]	Chr11:108135225 [GRCh38] Chr11:108005952 [GRCh37] Chr11:11q22.3	uncertain significance
NM_000019.4(ACAT1):c.71A>C (p.Gln24Pro)	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV001278340]	Chr11:108121677 [GRCh38] Chr11:107992404 [GRCh37] Chr11:11q22.3	uncertain significance
NM_000019.4(ACAT1):c.891G>A (p.Thr297=)	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV001278344]	Chr11:108142501 [GRCh38] Chr11:108013228 [GRCh37] Chr11:11q22.3	uncertain significance
NM_000019.4(ACAT1):c.1200T>C (p.His400=)	single nucleotide variant	Deficiency of acetyl-CoA acetyltransferase [RCV001278347]	Chr11:108147306 [GRCh38] Chr11:108018033 [GRCh37] Chr11:11q22.3	uncertain significance

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:93	AgrOrtholog
COSMIC	ACAT1	COSMIC
Ensembl Genes	ENSG00000075239	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein	ENSP00000265838	ENTREZGENE, UniProtKB/Swiss-Prot
	ENSP00000299355	UniProtKB/Swiss-Prot
	ENSP00000435965	UniProtKB/TrEMBL
	ENSP00000436096	UniProtKB/TrEMBL
	ENSP00000500163	ENTREZGENE, UniProtKB/TrEMBL
	ENSP00000500209	UniProtKB/TrEMBL
	ENSP00000500366	UniProtKB/TrEMBL
	ENSP00000500444	ENTREZGENE, UniProtKB/TrEMBL
	ENSP00000500463	UniProtKB/TrEMBL
	ENSP00000500490	ENTREZGENE, UniProtKB/TrEMBL
	ENSP00000500499	UniProtKB/TrEMBL
	ENSP00000500928	ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript	ENST00000265838	ENTREZGENE, UniProtKB/Swiss-Prot
	ENST00000299355	UniProtKB/Swiss-Prot
	ENST00000528370	UniProtKB/TrEMBL
	ENST00000531813	UniProtKB/TrEMBL
	ENST00000672008	UniProtKB/TrEMBL
	ENST00000672031	ENTREZGENE, UniProtKB/TrEMBL
	ENST00000672284	ENTREZGENE, UniProtKB/TrEMBL
	ENST00000672354	ENTREZGENE, UniProtKB/TrEMBL
	ENST00000672367	UniProtKB/TrEMBL
	ENST00000672580	UniProtKB/TrEMBL
	ENST00000672907	ENTREZGENE, UniProtKB/TrEMBL
	ENST00000673531	ENTREZGENE, UniProtKB/TrEMBL
Gene3D-CATH	3.40.47.10	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx	ENSG00000075239	GTEx
HGNC ID	HGNC:93	ENTREZGENE
Human Proteome Map	ACAT1	Human Proteome Map
InterPro	Thiolase	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Thiolase-like	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Thiolase_acyl_enz_int_AS	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Thiolase_AS	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Thiolase_C	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Thiolase_CS	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Thiolase_N	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:38	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene	38	ENTREZGENE
OMIM	203750	OMIM
	607809	OMIM
Pfam	Thiolase_C	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Thiolase_N	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA24431	PharmGKB
PIRSF	Ac-CoA_Ac_transf	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE	THIOLASE_1	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	THIOLASE_2	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	THIOLASE_3	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP	SSF53901	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
TIGRFAMs	AcCoA-C-Actrans	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt	A0A140VJX1	ENTREZGENE, UniProtKB/TrEMBL
	A0A5F9ZHD4_HUMAN	UniProtKB/TrEMBL
	A0A5F9ZHH9_HUMAN	UniProtKB/TrEMBL
	A0A5F9ZHJ0_HUMAN	UniProtKB/TrEMBL
	A0A5F9ZHJ7_HUMAN	UniProtKB/TrEMBL
	A0A5F9ZHL1_HUMAN	UniProtKB/TrEMBL
	A0A5F9ZHL7_HUMAN	UniProtKB/TrEMBL
	A0A5F9ZI66_HUMAN	UniProtKB/TrEMBL
	E9PRQ6_HUMAN	UniProtKB/TrEMBL
	H0YEL7_HUMAN	UniProtKB/TrEMBL
	P24752	ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary	B2R6H1	UniProtKB/Swiss-Prot
	G3XAB4	UniProtKB/Swiss-Prot
	Q96FG8	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2011-08-16	ACAT1	acetyl-CoA acetyltransferase 1	ACAT1	acetyl-CoA acetyltransferase 1	Symbol and/or name change	5135510	APPROVED
2011-07-27	ACAT1	acetyl-CoA acetyltransferase 1	ACAT1	acetyl-Coenzyme A acetyltransferase 1	Symbol and/or name change	5135510	APPROVED

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
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InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

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MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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Imported Annotations - KEGG (archival)

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Imported Disease Annotations - CTD

Imported Disease Annotations - OMIM

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Imported Annotations - SMPDB

Imported Annotations - KEGG (archival)