ACOT12

acyl-CoA thioesterase 12, the group of StAR related lipid transfer domain containing|Acyl-CoA thioesterases

Basic information

Region (hg38): 5:81329996-81394179

Links

ENSG00000172497 ∙ NCBI:134526 ∙ OMIM:614315 ∙ HGNC:24436 ∙ Uniprot:Q8WYK0 ∙ 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 ACOT12 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ACOT12 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				1		1
missense			37	6		43
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	37	7	0

Variants in ACOT12

This is a list of pathogenic ClinVar variants found in the ACOT12 region.

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

Position	Type	Phenotype	Significance	ClinVar
5-81330401-G-A		not specified	Likely benign (Dec 16, 2023)
5-81330467-A-G		not specified	Uncertain significance (Feb 08, 2023)
5-81330531-T-A		not specified	Uncertain significance (Dec 19, 2023)
5-81330864-T-C		not specified	Uncertain significance (Aug 21, 2023)
5-81330876-T-C		not specified	Likely benign (Dec 02, 2022)
5-81330876-T-G		not specified	Uncertain significance (Nov 18, 2022)
5-81330879-A-G		not specified	Uncertain significance (May 30, 2024)
5-81330884-G-A		not specified	Uncertain significance (Jan 27, 2022)
5-81332483-T-C		not specified	Uncertain significance (Feb 14, 2023)
5-81332492-T-C		not specified	Likely benign (Feb 13, 2023)
5-81332498-C-T		not specified	Uncertain significance (Nov 08, 2022)
5-81332523-T-C		not specified	Uncertain significance (Mar 23, 2022)
5-81332529-T-G		not specified	Uncertain significance (Feb 26, 2024)
5-81332544-T-C		not specified	Likely benign (Dec 07, 2023)
5-81332556-T-C		not specified	Uncertain significance (Sep 27, 2021)
5-81332571-C-T		not specified	Uncertain significance (Aug 12, 2021)
5-81335817-G-A		not specified	Uncertain significance (Apr 25, 2022)
5-81342683-T-C		not specified	Likely benign (Mar 23, 2022)
5-81342728-C-A		not specified	Uncertain significance (Apr 09, 2024)
5-81344196-C-T		not specified	Uncertain significance (Jan 16, 2024)
5-81344202-C-A		not specified	Uncertain significance (Nov 02, 2023)
5-81344979-C-T		not specified	Uncertain significance (Sep 01, 2021)
5-81344985-C-G		not specified	Uncertain significance (Mar 20, 2023)
5-81344985-C-T		not specified	Likely benign (Jan 24, 2024)
5-81344992-C-T		not specified	Uncertain significance (Dec 05, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ACOT12	protein_coding	protein_coding	ENST00000307624	15	64175

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.73e-14	0.236	125567	0	181	125748	0.000720

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.0471	308	310	0.992	0.0000164	3649
Missense in Polyphen		95	107.26	0.88567		1247
Synonymous	0.297	103	107	0.963	0.00000589	1046
Loss of Function	1.17	25	32.1	0.778	0.00000188	347

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000821	0.000820
Ashkenazi Jewish	0.00	0.00
East Asian	0.00136	0.00136
Finnish	0.00	0.00
European (Non-Finnish)	0.000811	0.000800
Middle Eastern	0.00136	0.00136
South Asian	0.00144	0.00144
Other	0.000655	0.000652

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Hydrolyzes acetyl-CoA to acetate and CoA. {ECO:0000269|PubMed:16951743}.
• Pathway: Pyruvate metabolism - Homo sapiens (human);Pyruvate Dehydrogenase Complex Deficiency;Primary hyperoxaluria II, PH2;Pyruvate kinase deficiency;Leigh Syndrome;Pyruvate Metabolism;Pyruvate Decarboxylase E1 Component Deficiency (PDHE1 Deficiency);Metabolism of lipids;Mitochondrial Fatty Acid Beta-Oxidation;Glycolysis and Gluconeogenesis;Metabolism;Fatty acid metabolism (Consensus)

Recessive Scores

• pRec: 0.179

Intolerance Scores

• loftool: 0.794
• rvis_EVS: 0.16
• rvis_percentile_EVS: 64.82

Haploinsufficiency Scores

• pHI: 0.133
• hipred: N
• hipred_score: 0.282
• ghis: 0.421

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.779

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Acot12

Gene ontology

• Biological process: pyruvate metabolic process;acyl-CoA metabolic process;palmitic acid biosynthetic process
• Cellular component: cytosol
• Molecular function: fatty-acyl-CoA binding;acetyl-CoA hydrolase activity;lipid binding;palmitoyl-CoA hydrolase activity;long-chain fatty acyl-CoA binding;acyl-CoA hydrolase activity;carboxylic ester hydrolase activity