ACOT4

acyl-CoA thioesterase 4, the group of Acyl-CoA thioesterases

Basic information

Region (hg38): 14:73591873-73595766

Links

ENSG00000177465 ∙ NCBI:122970 ∙ OMIM:614314 ∙ HGNC:19748 ∙ Uniprot:Q8N9L9 ∙ 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 ACOT4 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ACOT4 gene is commonly pathogenic or not.

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.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			43	1	1	45
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	43	1	1

Variants in ACOT4

This is a list of pathogenic ClinVar variants found in the ACOT4 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
14-73592007-C-G		not specified	Uncertain significance (Oct 13, 2023)
14-73592012-C-T		not specified	Uncertain significance (Mar 06, 2023)
14-73592036-T-C		not specified	Uncertain significance (Aug 12, 2021)
14-73592053-G-C		not specified	Uncertain significance (Oct 29, 2024)
14-73592101-G-A		not specified	Uncertain significance (Jun 03, 2022)
14-73592110-C-A		not specified	Uncertain significance (Apr 17, 2024)
14-73592132-G-A		not specified	Uncertain significance (Aug 19, 2024)
14-73592152-G-A		not specified	Uncertain significance (Dec 14, 2021)
14-73592153-C-T		not specified	Uncertain significance (Dec 16, 2023)
14-73592167-G-T		not specified	Uncertain significance (Aug 12, 2021)
14-73592224-C-A		not specified	Uncertain significance (Jun 07, 2024)
14-73592246-G-C		not specified	Uncertain significance (Jan 30, 2024)
14-73592278-G-A		not specified	Uncertain significance (Oct 29, 2021)
14-73592321-G-A		not specified	Uncertain significance (Nov 09, 2021)
14-73592325-G-C		not specified	Uncertain significance (Apr 17, 2024)
14-73592365-C-G		not specified	Uncertain significance (Aug 08, 2023)
14-73592392-C-T		not specified	Uncertain significance (May 02, 2024)
14-73592398-A-G		not specified	Uncertain significance (Oct 04, 2024)
14-73592411-C-G		not specified	Uncertain significance (Dec 15, 2022)
14-73593738-G-T		not specified	Uncertain significance (Dec 02, 2024)
14-73593740-A-T		not specified	Uncertain significance (Jan 10, 2022)
14-73593785-C-T		not specified	Uncertain significance (Aug 02, 2021)
14-73593798-C-T		not specified	Uncertain significance (Aug 08, 2023)
14-73593804-C-A			Benign (Aug 30, 2024)
14-73593810-C-A		Intellectual disability	Uncertain significance (-)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ACOT4	protein_coding	protein_coding	ENST00000326303	3	4791

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.04e-8	0.0977	115062	2093	8593	125748	0.0434

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.113	211	216	0.978	0.0000102	2662
Missense in Polyphen		85	84.667	1.0039		1095
Synonymous	0.258	90	93.2	0.966	0.00000463	889
Loss of Function	-0.127	12	11.5	1.04	5.55e-7	149

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0556	0.0451
Ashkenazi Jewish	0.0763	0.0435
East Asian	0.000545	0.000544
Finnish	0.268	0.105
European (Non-Finnish)	0.149	0.0583
Middle Eastern	0.000545	0.000544
South Asian	0.0355	0.0198
Other	0.0877	0.0404

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 (By similarity). Succinyl-CoA thioesterase that also hydrolyzes long chain saturated and unsaturated monocarboxylic acyl-CoAs. {ECO:0000250, ECO:0000269|PubMed:16940157}.
• Pathway: Biosynthesis of unsaturated fatty acids - Homo sapiens (human);Fatty acid elongation - Homo sapiens (human);stearate biosynthesis;Metabolism of lipids;Metabolism of proteins;Tyrosine metabolism;Leukotriene metabolism;Saturated fatty acids beta-oxidation;Beta-oxidation of very long chain fatty acids;Peroxisomal lipid metabolism;Metabolism;Peroxisomal protein import;Fatty acid metabolism;palmitate biosynthesis;Bile acid biosynthesis;De novo fatty acid biosynthesis;oleate biosynthesis (Consensus)

Recessive Scores

• pRec: 0.101

Intolerance Scores

• loftool: 0.855
• rvis_EVS: 0.28
• rvis_percentile_EVS: 71.41

Haploinsufficiency Scores

• pHI: 0.0554
• hipred: N
• hipred_score: 0.112
• ghis: 0.408

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.172

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Acot4
• Phenotype: endocrine/exocrine gland phenotype; renal/urinary system phenotype; reproductive system phenotype

Gene ontology

• Biological process: very long-chain fatty acid metabolic process;long-chain fatty acid metabolic process;succinyl-CoA metabolic process;protein targeting to peroxisome;fatty acid metabolic process;acyl-CoA metabolic process;butyrate metabolic process;saturated monocarboxylic acid metabolic process;unsaturated monocarboxylic acid metabolic process;dicarboxylic acid metabolic process;dicarboxylic acid catabolic process;short-chain fatty acid metabolic process
• Cellular component: peroxisome;peroxisomal matrix;cytosol
• Molecular function: succinyl-CoA hydrolase activity;signaling receptor binding;palmitoyl-CoA hydrolase activity;acyl-CoA hydrolase activity;carboxylic ester hydrolase activity;myristoyl-CoA hydrolase activity