ACOT6

acyl-CoA thioesterase 6, the group of Acyl-CoA thioesterases

Basic information

Region (hg38): 14:73610945-73619888

Previous symbols: [ "C14orf42" ]

Links

ENSG00000205669 ∙ NCBI:641372 ∙ OMIM:614267 ∙ HGNC:33159 ∙ Uniprot:Q3I5F7 ∙ 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 ACOT6 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ACOT6 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			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 ACOT6

This is a list of pathogenic ClinVar variants found in the ACOT6 region.

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

Position	Type	Phenotype	Significance	ClinVar
14-73619235-T-A		not specified	Uncertain significance (Feb 05, 2024)
14-73619246-A-G		not specified	Uncertain significance (Oct 12, 2021)
14-73619277-G-T		not specified	Uncertain significance (Aug 30, 2021)
14-73619295-T-A		not specified	Uncertain significance (Jan 02, 2024)
14-73619402-G-A		not specified	Uncertain significance (May 02, 2024)
14-73619436-G-T		not specified	Uncertain significance (Mar 07, 2023)
14-73619659-T-G		not specified	Uncertain significance (Feb 07, 2023)
14-73619699-G-A		not specified	Uncertain significance (Dec 16, 2022)
14-73619732-G-A		not specified	Uncertain significance (Mar 28, 2024)
14-73619741-G-C		not specified	Uncertain significance (Apr 15, 2022)
14-73619744-C-A		not specified	Uncertain significance (May 30, 2023)
14-73619772-A-G		not specified	Uncertain significance (Nov 15, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ACOT6	protein_coding	protein_coding	ENST00000381139	2	8944

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00353	0.639	125709	1	38	125748	0.000155

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.18	74	109	0.681	0.00000492	1370
Missense in Polyphen		33	44.465	0.74215		589
Synonymous	0.478	35	38.8	0.902	0.00000199	398
Loss of Function	0.519	4	5.29	0.756	2.20e-7	77

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000210	0.000210
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.000275	0.000264
Middle Eastern	0.0000544	0.0000544
South Asian	0.0000980	0.0000980
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Pathway: Metabolism of lipids;Tyrosine metabolism;Leukotriene metabolism;Beta-oxidation of very long chain fatty acids;Peroxisomal lipid metabolism;Metabolism;Fatty acid metabolism;Bile acid biosynthesis;De novo fatty acid biosynthesis;Vitamin E metabolism (Consensus)

Recessive Scores

• pRec: 0.0904

Intolerance Scores

• loftool: 0.794
• rvis_EVS: 0.55
• rvis_percentile_EVS: 81.22

Haploinsufficiency Scores

• pHI: 0.107
• hipred: N
• hipred_score: 0.146

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0645

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Acot6
• Phenotype: normal phenotype

Gene ontology

• Biological process: fatty acid metabolic process;acyl-CoA metabolic process
• Cellular component: peroxisomal matrix;cytosol
• Molecular function: acyl-CoA hydrolase activity;carboxylic ester hydrolase activity