ACOT9

protein-coding

acyl-CoA thioesterase 9, the group of Acyl-CoA thioesterases

Gene summary

The protein encoded by this gene is a mitochondrial acyl-CoA thioesterase of unknown function. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]

MANE transcript

NM_001037171.2

Inheritance

—

ClinVar variants

U:168B:6

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.77

Max pathogenic AF

—

Genomic locus

chrX:23,701,055-23,766,475

External References & Databases

Ensembl (ENSG00000123130)

Transcript & Mutation Effects

hg38 • Region Span ~65.4 kb

Loading mutation effect viewer...

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 ACOT9 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 44

not providedTotal: 7

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001037171.2. 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			16 clinvar	2 clinvar		18
missense			104 clinvar	4 clinvar		108
nonsense			10 clinvar			10
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			38 clinvar			38
Total	0	0	168	6	0	174

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 45 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001037171.2	RefSeq	NP_001032248.1	16	MANE Select
ENST00000379303.10	Ensembl	ENSP00000368605.5	16	MANE Select
NM_001033583.3	RefSeq	NP_001028755.2	15	Standard
NM_001330259.2	RefSeq	NP_001317188.1	12	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Metabolism of lipids
Mitochondrial Fatty Acid Beta-Oxidation
Metabolism
Fatty acid metabolism
acyl-CoA hydrolysis

Biological Process

acyl-CoA metabolic process

Molecular Function

acetyl-CoA hydrolase activity
acyl-CoA hydrolase activity
carboxylic ester hydrolase activity

Cellular Component

mitochondrion
mitochondrial matrix

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000379303
Coding exons: 16
Length: 64223
Individuals with no LoFs: 125709
Homozygous LoFs: 16
Heterozygous LoFs: 20
Defined: 125745
p: 0.000143

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.702	144	170	0.848	0.0000128	2977
Missense (PolyPhen)		46	54.25	0.84793		945
Synonymous	1.15	49	60.3	0.812	0.00000474	800
Loss of Function	0.957	15	19.6	0.767	0.00000148	339

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0.00015	0.00012	rare
Ashkenazi Jewish	0.00013	0.000099	rare
East Asian	0.00022	0.00016	rare
Finnish	0.00025	0.00018	rare
European (Non-Finnish)	0.00024	0.00017	rare
South Asian	0.00021	0.00013	rare
Other	0.00022	0.00016	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Acyl-CoA thioesterases are a group of enzymes that catalyze the hydrolysis of acyl-CoAs to the free fatty acid and coenzyme A (CoASH), providing the potential to regulate intracellular levels of acyl-CoAs, free fatty acids and CoASH. Active on long chain acyl-CoAs.;

Recessive Scores

pRec: 0.0912

Intolerance Scores

LoFtool: 0.911
RVIS EVS: 0.44
RVIS percentile EVS: 77.7

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.777

Gene Damage Prediction

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