ACBD6

acyl-CoA binding domain containing 6, the group of Ankyrin repeat domain containing|MicroRNA protein coding host genes

Basic information

Region (hg38): 1:180269653-180502954

Links

ENSG00000230124NCBI:84320OMIM:616352HGNC:23339Uniprot:Q9BR61AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

  • intellectual disability (Limited), mode of inheritance: AR
  • neurodevelopmental disorder with progressive movement abnormalities (Strong), mode of inheritance: AR

Clinical Genomic Database

Source: CGD

ConditionInheritanceIntervention CategoriesIntervention/Rationale Manifestation CategoriesReferences
Neurodevelopmental disorder with progressive movement abnormalitiesARGeneralGenetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testingCraniofacial; Neurologic36457943; 37951597

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ACBD6 gene.

  • Inborn_genetic_diseases (30 variants)
  • Neurodevelopmental_disorder_with_progressive_movement_abnormalities (7 variants)
  • not_provided (5 variants)
  • ACBD6-related_disorder (4 variants)
  • Intellectual_disability (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ACBD6 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000032360.4. 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
3
clinvar
1
clinvar
4
missense
29
clinvar
1
clinvar
30
nonsense
1
clinvar
1
start loss
0
frameshift
5
clinvar
5
splice donor/acceptor (+/-2bp)
1
clinvar
1
clinvar
2
Total 6 1 30 4 1

Highest pathogenic variant AF is 0.0000223062

Loading clinvar variants...

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Function
FUNCTION: Binds long-chain acyl-coenzyme A molecules with a strong preference for unsaturated C18:1-CoA, lower affinity for unsaturated C20:4-CoA, and very weak affinity for saturated C16:0- CoA. Does not bind fatty acids. {ECO:0000269|PubMed:18268358}.;
Pathway
Metabolism of lipids;Mitochondrial Fatty Acid Beta-Oxidation;TCR;Metabolism;Fatty acid metabolism (Consensus)

Recessive Scores

pRec
0.107

Intolerance Scores

loftool
0.522
rvis_EVS
-0.43
rvis_percentile_EVS
25.15

Haploinsufficiency Scores

pHI
0.467
hipred
N
hipred_score
0.443
ghis

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.801

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Acbd6
Phenotype

Gene ontology

Biological process
acyl-CoA metabolic process
Cellular component
cytosol
Molecular function
fatty-acyl-CoA binding;lipid binding