ACOT11

acyl-CoA thioesterase 11, the group of StAR related lipid transfer domain containing|Acyl-CoA thioesterases

Basic information

Region (hg38): 1:54542257-54639192

Previous symbols: [ "THEA" ]

Links

ENSG00000162390 ∙ NCBI:26027 ∙ OMIM:606803 ∙ HGNC:18156 ∙ Uniprot:Q8WXI4 ∙ 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 ACOT11 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ACOT11 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	2
missense			43	1		44
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region					1	1
non coding			40	11	9	60
Total	0	0	83	12	11

Variants in ACOT11

This is a list of pathogenic ClinVar variants found in the ACOT11 region.

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

Position	Type	Phenotype	Significance	ClinVar
1-54548341-G-A		not specified	Uncertain significance (Mar 21, 2024)
1-54584688-C-T		not specified	Uncertain significance (Dec 17, 2021)
1-54584703-C-T		not specified	Uncertain significance (Nov 09, 2024)
1-54584707-C-T		not specified	Uncertain significance (Apr 17, 2023)
1-54584745-C-T		not specified	Uncertain significance (Nov 09, 2023)
1-54584746-G-A		not specified	Uncertain significance (Aug 27, 2024)
1-54584780-G-A			Benign (Apr 04, 2018)
1-54584782-T-C		not specified	Uncertain significance (May 01, 2023)
1-54585877-A-G		not specified	Uncertain significance (Jan 02, 2024)
1-54592557-T-G		not specified	Uncertain significance (Jan 06, 2023)
1-54594575-C-T		not specified	Uncertain significance (Apr 08, 2022)
1-54594581-G-A		not specified	Uncertain significance (Jan 26, 2022)
1-54594625-C-T		not specified	Uncertain significance (Dec 19, 2022)
1-54594626-G-A		not specified	Uncertain significance (Aug 19, 2024)
1-54594629-G-A		not specified	Uncertain significance (Nov 21, 2023)
1-54594640-G-A		not specified	Uncertain significance (Jan 03, 2024)
1-54594644-A-G		not specified	Uncertain significance (Jan 10, 2023)
1-54594675-C-G		not specified	Uncertain significance (Mar 07, 2023)
1-54597276-T-C		not specified	Uncertain significance (Apr 08, 2022)
1-54597282-C-T		not specified	Uncertain significance (Mar 14, 2024)
1-54597292-C-T		not specified	Uncertain significance (Aug 13, 2021)
1-54597295-C-A		not specified	Uncertain significance (Feb 17, 2024)
1-54597331-T-C		not specified	Uncertain significance (Oct 14, 2023)
1-54597369-G-A		not specified	Uncertain significance (Aug 12, 2021)
1-54599298-G-A		not specified	Uncertain significance (Jan 12, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ACOT11	protein_coding	protein_coding	ENST00000371316	17	96936

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.08e-16	0.132	125576	0	172	125748	0.000684

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.539	363	393	0.924	0.0000262	3933
Missense in Polyphen		105	120.73	0.86968		1162
Synonymous	0.926	145	160	0.907	0.0000110	1185
Loss of Function	1.16	29	36.5	0.794	0.00000202	376

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00329	0.00323
Ashkenazi Jewish	0.000398	0.000397
East Asian	0.000381	0.000381
Finnish	0.0000952	0.0000924
European (Non-Finnish)	0.000461	0.000448
Middle Eastern	0.000381	0.000381
South Asian	0.00131	0.00131
Other	0.000490	0.000489

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Has acyl-CoA thioesterase activity towards medium (C12) and long-chain (C18) fatty acyl-CoA substrates.
• Pathway: Metabolism of lipids;Mitochondrial Fatty Acid Beta-Oxidation;Metabolism;Fatty acid metabolism (Consensus)

Recessive Scores

• pRec: 0.139

Intolerance Scores

• loftool: 0.562
• rvis_EVS: 0.72
• rvis_percentile_EVS: 85.86

Haploinsufficiency Scores

• pHI: 0.105
• hipred: N
• hipred_score: 0.251
• ghis: 0.506

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.892

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Acot11
• Phenotype: growth/size/body region phenotype; adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan); homeostasis/metabolism phenotype; cellular phenotype; liver/biliary system phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); immune system phenotype

Gene ontology

• Biological process: fatty acid metabolic process;acyl-CoA metabolic process;response to temperature stimulus;response to cold;intracellular signal transduction;negative regulation of cold-induced thermogenesis;palmitic acid biosynthetic process
• Cellular component: cytosol;extracellular exosome
• Molecular function: fatty-acyl-CoA binding;lipid binding;palmitoyl-CoA hydrolase activity;long-chain fatty acyl-CoA binding;acyl-CoA hydrolase activity;carboxylic ester hydrolase activity