ACOT1

acyl-CoA thioesterase 1, the group of Acyl-CoA thioesterases

Basic information

Region (hg38): 14:73537143-73543796

Links

ENSG00000184227 ∙ NCBI:641371 ∙ OMIM:614313 ∙ HGNC:33128 ∙ Uniprot:Q86TX2 ∙ 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 ACOT1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ACOT1 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				2	1	3
missense			23	3	3	29
nonsense						0
start loss						0
frameshift				1		1
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	23	6	4

Variants in ACOT1

This is a list of pathogenic ClinVar variants found in the ACOT1 region.

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

Position	Type	Phenotype	Significance	ClinVar
14-73537467-G-A		not specified	Uncertain significance (Dec 03, 2021)
14-73537473-C-A		not specified	Uncertain significance (Jul 25, 2023)
14-73537506-G-A			Benign (Mar 01, 2024)
14-73537571-G-A			Benign (Dec 31, 2019)
14-73537589-C-T			Likely benign (Dec 31, 2019)
14-73537620-G-C		not specified	Uncertain significance (Dec 20, 2023)
14-73537686-C-T		not specified	Conflicting classifications of pathogenicity (Jan 09, 2024)
14-73537688-C-T			Likely benign (Dec 31, 2019)
14-73537743-G-A		not specified	Uncertain significance (Aug 12, 2021)
14-73537771-G-A		not specified	Uncertain significance (Jan 03, 2024)
14-73537782-T-G		not specified	Likely benign (Jan 03, 2024)
14-73537803-T-G		not specified	Likely benign (Jan 03, 2024)
14-73537804-A-G		not specified	Conflicting classifications of pathogenicity (Jun 29, 2022)
14-73537825-GGCGCGAGCCGGTGC-G		Generalized hypotonia	Pathogenic (-)
14-73537837-T-G		not specified	Uncertain significance (Jun 17, 2024)
14-73537864-T-G		not specified	Uncertain significance (May 25, 2022)
14-73541555-C-T		not specified	Uncertain significance (Aug 04, 2023)
14-73541556-G-A		not specified	Uncertain significance (Dec 07, 2021)
14-73541570-G-C		not specified	Uncertain significance (Nov 13, 2023)
14-73541639-AC-A			Likely benign (Nov 17, 2017)
14-73541640-C-T		not specified	Uncertain significance (Oct 12, 2023)
14-73543063-G-A		not specified	Uncertain significance (Feb 16, 2023)
14-73543068-G-A		not specified	Uncertain significance (Apr 07, 2022)
14-73543093-G-A		not specified	Uncertain significance (Jan 22, 2024)
14-73543111-T-C		not specified	Uncertain significance (Nov 22, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ACOT1	protein_coding	protein_coding	ENST00000311148	3	6681

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000641	0.496	125382	0	8	125390	0.0000319

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.850	157	190	0.827	0.00000960	2625
Missense in Polyphen		43	48.439	0.88772		707
Synonymous	2.28	56	82.3	0.681	0.00000425	905
Loss of Function	0.470	7	8.48	0.826	3.53e-7	132

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000337	0.0000337
Ashkenazi Jewish	0.00	0.00
East Asian	0.000109	0.000109
Finnish	0.0000463	0.0000463
European (Non-Finnish)	0.0000285	0.0000265
Middle Eastern	0.000109	0.000109
South Asian	0.0000328	0.0000328
Other	0.00	0.00

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 towards fatty acyl-CoA with chain-lengths of C12-C16 (By similarity). {ECO:0000250}.
• Pathway: Biosynthesis of unsaturated fatty acids - Homo sapiens (human);Fatty acid elongation - Homo sapiens (human);stearate biosynthesis;Metabolism of lipids;Mitochondrial Fatty Acid Beta-Oxidation;Tyrosine metabolism;Leukotriene metabolism;Metabolism;Fatty acid metabolism;palmitate biosynthesis;Bile acid biosynthesis;De novo fatty acid biosynthesis;Vitamin E metabolism;oleate biosynthesis (Consensus)

Recessive Scores

• pRec: 0.123

Haploinsufficiency Scores

• pHI: 0.128
• hipred: N
• hipred_score: 0.241
• ghis: 0.473

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.435

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Acot1

Gene ontology

• Biological process: very long-chain fatty acid metabolic process;long-chain fatty acid metabolic process;fatty acid metabolic process;acyl-CoA metabolic process
• Cellular component: cytosol
• Molecular function: palmitoyl-CoA hydrolase activity;acyl-CoA hydrolase activity;carboxylic ester hydrolase activity;myristoyl-CoA hydrolase activity