GeneBe

ACSM3

acyl-CoA synthetase medium chain family member 3, the group of Acyl-CoA synthetase family

Basic information

Region (hg38): 16:20610243-20797581

Previous symbols: [ "SAH" ]

Links

ENSG00000005187 ∙ NCBI:6296 ∙ OMIM:145505 ∙ HGNC:10522 ∙ Uniprot:Q53FZ2 ∙ 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 ACSM3 gene.

  • not_specified (83 variants)
  • not_provided (4 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ACSM3 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000005622.4. Only rare variants are included in the table.

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.

EffectPLPVUSLBBSum
synonymous
4
clinvar
 4
missense
77
clinvar
5
clinvar
 82
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 0 77 9 0
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
ACSM3protein_codingprotein_codingENST00000289416 13187339
pLI Probability
LOF Intolerant 		pRec Probability
LOF Recessive 		Individuals with
no LOFs 		Individuals with
Homozygous LOFs 		Individuals with
Heterozygous LOFs 		Defined p
1.44e-140.3011231872225391257480.0102
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.4562903130.9270.00001583828
Missense in Polyphen115125.210.918471544
Synonymous1.14951100.8620.000005671115
Loss of Function1.302634.20.7610.00000196381

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.04870.0486
Ashkenazi Jewish0.007840.00777
East Asian0.0007710.000761
Finnish0.001800.00180
European (Non-Finnish)0.01040.0104
Middle Eastern0.0007710.000761
South Asian0.008760.00876
Other0.008990.00900

dbNSFP

Source: dbNSFP

Function
FUNCTION: Has medium-chain fatty acid:CoA ligase activity with broad substrate specificity (in vitro). Acts on acids from C(4) to C(11) and on the corresponding 3-hydroxy- and 2,3- or 3,4- unsaturated acids (in vitro) (By similarity). {ECO:0000250}.;
Pathway
Butanoate metabolism - Homo sapiens (human);Valproic Acid Pathway, Pharmacokinetics;Metabolism of lipids;Beta oxidation of butanoyl-CoA to acetyl-CoA;mitochondrial fatty acid beta-oxidation of saturated fatty acids;Mitochondrial Fatty Acid Beta-Oxidation;Metabolism;Fatty acid metabolism;γ-linolenate biosynthesis;icosapentaenoate biosynthesis II (metazoa) (Consensus)

Recessive Scores

pRec
0.455

Intolerance Scores

loftool
0.959
rvis_EVS
1.29
rvis_percentile_EVS
93.85

Haploinsufficiency Scores

pHI
0.259
hipred
N
hipred_score
0.196
ghis

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.276

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Acsm3
Phenotype
normal phenotype;

Gene ontology

Biological process
fatty acid biosynthetic process;acyl-CoA metabolic process;regulation of blood pressure;cholesterol homeostasis
Cellular component
cellular_component;mitochondrial matrix
Molecular function
molecular_function;acyl-CoA ligase activity;fatty-acyl-CoA synthase activity;ATP binding;fatty acid ligase activity;metal ion binding;butyrate-CoA ligase activity