ACOT13

acyl-CoA thioesterase 13, the group of Acyl-CoA thioesterases

Basic information

Region (hg38): 6:24667034-24705065

Previous symbols: [ "THEM2" ]

Links

ENSG00000112304 ∙ NCBI:55856 ∙ OMIM:615652 ∙ HGNC:20999 ∙ Uniprot:Q9NPJ3 ∙ 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 ACOT13 gene.

• Inborn genetic diseases (6 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ACOT13 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			6			6
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	6	0	0

Variants in ACOT13

This is a list of pathogenic ClinVar variants found in the ACOT13 region.

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

Position	Type	Phenotype	Significance	ClinVar
6-24667289-G-A		not specified	Uncertain significance (Oct 13, 2023)
6-24667308-G-A		not specified	Uncertain significance (Mar 08, 2024)
6-24667308-G-T		not specified	Uncertain significance (Mar 02, 2023)
6-24697976-T-G		not specified	Uncertain significance (Dec 14, 2023)
6-24697977-T-G		not specified	Uncertain significance (Nov 13, 2023)
6-24697986-C-T		not specified	Uncertain significance (Feb 01, 2023)
6-24701491-T-C		not specified	Uncertain significance (Mar 29, 2023)
6-24701508-G-C		not specified	Uncertain significance (Jul 09, 2021)
6-24701533-C-A		not specified	Uncertain significance (Sep 17, 2021)
6-24701598-A-G		not specified	Uncertain significance (Mar 31, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ACOT13	protein_coding	protein_coding	ENST00000230048	3	38031

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000313	0.106	125314	3	430	125747	0.00172

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.0954	76	78.4	0.970	0.00000392	897
Missense in Polyphen		25	25.577	0.97744		279
Synonymous	1.12	21	28.6	0.734	0.00000162	291
Loss of Function	-1.08	7	4.53	1.55	2.73e-7	61

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000153	0.000152
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000571	0.0000544
Finnish	0.000141	0.000139
European (Non-Finnish)	0.000625	0.000615
Middle Eastern	0.0000571	0.0000544
South Asian	0.0117	0.0114
Other	0.00149	0.00147

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. Has acyl-CoA thioesterase activity towards medium (C12) and long-chain (C18) fatty acyl-CoA substrates. Can also hydrolyze 3- hydroxyphenylacetyl-CoA and 3,4-dihydroxyphenylacetyl-CoA (in vitro). May play a role in controlling adaptive thermogenesis (By similarity). {ECO:0000250, ECO:0000269|PubMed:16934754, ECO:0000269|PubMed:19170545}.
• Pathway: Metabolism of lipids;Mitochondrial Fatty Acid Beta-Oxidation;Metabolism;Fatty acid metabolism (Consensus)

Recessive Scores

• pRec: 0.0689

Intolerance Scores

• loftool: 0.627
• rvis_EVS: 0.33
• rvis_percentile_EVS: 73.11

Haploinsufficiency Scores

• pHI: 0.0185
• hipred: N
• hipred_score: 0.294
• ghis: 0.464

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.234

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Acot13
• Phenotype: digestive/alimentary phenotype; liver/biliary system phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan); homeostasis/metabolism phenotype; growth/size/body region phenotype

Zebrafish Information Network

• Gene name: acot13
• Affected structure: whole organism
• Phenotype tag: abnormal
• Phenotype quality: decreased life span

Gene ontology

• Biological process: acyl-CoA metabolic process;protein homotetramerization;negative regulation of cold-induced thermogenesis
• Cellular component: nucleus;mitochondrion;spindle;cytosol
• Molecular function: acyl-CoA hydrolase activity