GeneBe

ACOT13

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

Basic information

Region (hg38): 6:24667035-24705065

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.

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
10
clinvar
 10
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 10 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)3137620
6-24667308-G-A not specified Uncertain significance (Mar 08, 2024)3137632
6-24667308-G-T not specified Uncertain significance (Mar 02, 2023)2470465
6-24697976-T-G not specified Uncertain significance (Dec 14, 2023)3137607
6-24697977-T-G not specified Uncertain significance (Nov 13, 2023)3137610
6-24697986-C-T not specified Uncertain significance (Feb 01, 2023)2456284
6-24701491-T-C not specified Uncertain significance (Mar 29, 2023)2514319
6-24701492-A-G not specified Uncertain significance (May 30, 2024)3261910
6-24701508-G-C not specified Uncertain significance (Jul 09, 2021)2336963
6-24701533-C-A not specified Uncertain significance (Sep 17, 2021)2251962
6-24701598-A-G not specified Uncertain significance (Mar 31, 2023)2532081

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
ACOT13protein_codingprotein_codingENST00000230048 338031
pLI Probability
LOF Intolerant 		pRec Probability
LOF Recessive 		Individuals with
no LOFs 		Individuals with
Homozygous LOFs 		Individuals with
Heterozygous LOFs 		Defined p
0.000003130.10612531434301257470.00172
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.09547678.40.9700.00000392897
Missense in Polyphen2525.5770.97744279
Synonymous1.122128.60.7340.00000162291
Loss of Function-1.0874.531.552.73e-761

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0001530.000152
Ashkenazi Jewish0.000.00
East Asian0.00005710.0000544
Finnish0.0001410.000139
European (Non-Finnish)0.0006250.000615
Middle Eastern0.00005710.0000544
South Asian0.01170.0114
Other0.001490.00147

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

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

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