ACOT9

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

Basic information

Region (hg38): X:23701055-23766475

Links

ENSG00000123130 ∙ NCBI:23597 ∙ OMIM:300862 ∙ HGNC:17152 ∙ Uniprot:Q9Y305 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ACOT9 gene.

• not_specified (35 variants)
• not_provided (6 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ACOT9 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001037171.2. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				1		1
missense			35	3		38
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	35	4	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ACOT9	protein_coding	protein_coding	ENST00000379303	16	64223

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
6.80e-9	0.446	125709	16	20	125745	0.000143

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.702	144	170	0.848	0.0000128	2977
Missense in 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

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000152	0.000152
Ashkenazi Jewish	0.000134	0.0000992
East Asian	0.000219	0.000163
Finnish	0.000254	0.000185
European (Non-Finnish)	0.000237	0.000167
Middle Eastern	0.000219	0.000163
South Asian	0.000214	0.000131
Other	0.000221	0.000163

dbNSFP

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.
• Pathway: Metabolism of lipids;Mitochondrial Fatty Acid Beta-Oxidation;Metabolism;Fatty acid metabolism;acyl-CoA hydrolysis (Consensus)

Recessive Scores

• pRec: 0.0912

Intolerance Scores

• loftool: 0.911
• rvis_EVS: 0.44
• rvis_percentile_EVS: 77.7

Haploinsufficiency Scores

• pHI: 0.150
• hipred: N
• hipred_score: 0.219
• ghis: 0.432

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.777

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Acot9

Gene ontology

• Biological process: acyl-CoA metabolic process
• Cellular component: mitochondrion;mitochondrial matrix
• Molecular function: acetyl-CoA hydrolase activity;acyl-CoA hydrolase activity;carboxylic ester hydrolase activity