AACS

acetoacetyl-CoA synthetase, the group of Acyl-CoA synthetase family

Basic information

Region (hg38): 12:125065434-125143333

Links

ENSG00000081760 ∙ NCBI:65985 ∙ OMIM:614364 ∙ HGNC:21298 ∙ Uniprot:Q86V21 ∙ 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 AACS gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the AACS 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	4	6
missense			47		1	48
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region					1	1
non coding						0
Total	0	0	47	2	5

Variants in AACS

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

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

Position	Type	Phenotype	Significance	ClinVar
12-125065699-G-A		not specified	Uncertain significance (Dec 16, 2022)
12-125073932-G-A		not specified	Uncertain significance (Dec 28, 2023)
12-125073940-G-T		not specified	Uncertain significance (Feb 07, 2023)
12-125076504-C-T		not specified	Uncertain significance (Mar 02, 2023)
12-125076518-G-C		not specified	Uncertain significance (Mar 28, 2024)
12-125076566-C-T		not specified	Uncertain significance (Jan 04, 2022)
12-125076572-C-A			Benign (Jun 18, 2018)
12-125076572-C-T		not specified	Uncertain significance (Sep 13, 2023)
12-125091440-A-G		not specified	Uncertain significance (Apr 18, 2023)
12-125091442-T-A		not specified	Uncertain significance (Oct 29, 2021)
12-125091458-G-A		not specified	Uncertain significance (Feb 06, 2023)
12-125091510-A-G		not specified	Uncertain significance (Feb 27, 2023)
12-125102682-G-A		not specified	Uncertain significance (Jan 08, 2024)
12-125102752-A-G		not specified	Uncertain significance (Dec 01, 2023)
12-125102767-T-C		not specified	Uncertain significance (Feb 16, 2023)
12-125103020-G-T		not specified	Uncertain significance (Aug 08, 2023)
12-125103047-A-G		not specified	Uncertain significance (Mar 01, 2023)
12-125107149-G-A		not specified	Uncertain significance (Mar 16, 2022)
12-125107181-C-T			Benign (Feb 09, 2018)
12-125107182-G-A		not specified	Uncertain significance (Feb 11, 2022)
12-125107188-C-G		not specified	Uncertain significance (Feb 16, 2023)
12-125107217-G-A		not specified	Uncertain significance (Oct 12, 2021)
12-125107258-A-T		not specified	Uncertain significance (Apr 07, 2022)
12-125114516-G-A		not specified	Uncertain significance (Sep 06, 2022)
12-125118672-C-A		not specified	Uncertain significance (Jan 04, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
AACS	protein_coding	protein_coding	ENST00000316519	18	77949

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
9.13e-17	0.120	125616	1	131	125748	0.000525

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.200	397	408	0.972	0.0000241	4402
Missense in Polyphen		132	140.78	0.9376		1554
Synonymous	0.667	162	173	0.936	0.0000121	1263
Loss of Function	1.13	29	36.3	0.798	0.00000163	432

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00173	0.00173
Ashkenazi Jewish	0.00	0.00
East Asian	0.00185	0.00180
Finnish	0.00	0.00
European (Non-Finnish)	0.000361	0.000360
Middle Eastern	0.00185	0.00180
South Asian	0.000478	0.000457
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Activates acetoacetate to acetoacetyl-CoA. May be involved in utilizing ketone body for the fatty acid-synthesis during adipose tissue development (By similarity). {ECO:0000250}.
• Pathway: Butanoate metabolism - Homo sapiens (human);Valine, leucine and isoleucine degradation - Homo sapiens (human);Butanoate metabolism;Metabolism of lipids;Metabolism;Synthesis of Ketone Bodies;Ketone body metabolism (Consensus)

Recessive Scores

• pRec: 0.239

Intolerance Scores

• loftool: 0.887
• rvis_EVS: -1.17
• rvis_percentile_EVS: 6.04

Haploinsufficiency Scores

• pHI: 0.182
• hipred: N
• hipred_score: 0.389
• ghis: 0.535

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.780

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Aacs

Gene ontology

• Biological process: liver development;fatty acid metabolic process;response to nutrient;response to purine-containing compound;positive regulation of insulin secretion;response to oleic acid;response to starvation;response to ethanol;ketone body biosynthetic process;white fat cell differentiation;adipose tissue development;cellular response to glucose stimulus;cellular response to testosterone stimulus;cellular response to cholesterol
• Cellular component: cytosol
• Molecular function: protein binding;ATP binding;acetoacetate-CoA ligase activity;butyrate-CoA ligase activity