ACOT6

protein-coding

acyl-CoA thioesterase 6, the group of Acyl-CoA thioesterases

Gene summary

Predicted to enable fatty acyl-CoA hydrolase activity. Predicted to be involved in acyl-CoA metabolic process and fatty acid metabolic process. Located in cytosol. [provided by Alliance of Genome Resources, Jul 2025]

Previous symbols:

C14orf42

MANE transcript

NM_001365788.1

Inheritance

—

ClinVar variants

U:30B:1

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.76

Max pathogenic AF

—

Genomic locus

chr14:73,610,945-73,619,888

External References & Databases

Ensembl (ENSG00000205669)

Transcript & Mutation Effects

hg38 • Region Span ~8.9 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to ACOT6 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 30

not providedTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001365788.1. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous				1 clinvar		1
missense			30 clinvar			30
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	30	1	0	31

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 6 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001365788.1	RefSeq	NP_001352717.1	3	MANE Select
ENST00000645972.2	Ensembl	ENSP00000496277.1	3	MANE Select
NM_001037162.1	RefSeq	NP_001032239.1	2	Standard
NM_001365789.1	RefSeq	NP_001352718.1	2	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Metabolism of lipids
Tyrosine metabolism
Leukotriene metabolism
Beta-oxidation of very long chain fatty acids
Peroxisomal lipid metabolism

Biological Process

fatty acid metabolic process
acyl-CoA metabolic process

Molecular Function

acyl-CoA hydrolase activity
carboxylic ester hydrolase activity

Cellular Component

peroxisomal matrix
cytosol

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000381139
Coding exons: 2
Length: 8944
Individuals with no LoFs: 125709
Homozygous LoFs: 1
Heterozygous LoFs: 38
Defined: 125748
p: 0.000155

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.18	74	109	0.681	0.00000492	1370
Missense (PolyPhen)		33	44.465	0.74215		589
Synonymous	0.478	35	38.8	0.902	0.00000199	398
Loss of Function	0.519	4	5.29	0.756	2.20e-7	77

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00012	0.00012	rare
Latino/Admixed American	0.000087	0.000087	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.000054	0.000054	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.00028	0.00026	rare
South Asian	0.000098	0.000098	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Recessive Scores

pRec: 0.0904

Intolerance Scores

LoFtool: 0.794
RVIS EVS: 0.55
RVIS percentile EVS: 81.22

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.0645

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium