ACBD7

acyl-CoA binding domain containing 7

Basic information

Region (hg38): 10:15075475-15088776

Links

ENSG00000176244NCBI:414149HGNC:17715Uniprot:Q8N6N7AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ACBD7 gene.

  • not_specified (14 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ACBD7 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001039844.3. 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
0
missense
12
clinvar
2
clinvar
14
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 0 12 2 0
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
ACBD7protein_codingprotein_codingENST00000356189 411254
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.1160.78812546812601257290.00104
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.03214747.60.9870.00000252565
Missense in Polyphen1914.3261.3263180
Synonymous-0.5522218.91.160.00000120155
Loss of Function1.3125.250.3812.21e-765

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0001220.000122
Ashkenazi Jewish0.000.00
East Asian0.000.00
Finnish0.000.00
European (Non-Finnish)0.0001060.000106
Middle Eastern0.000.00
South Asian0.008040.00804
Other0.0001630.000163

dbNSFP

Source: dbNSFP

Function
FUNCTION: Binds medium- and long-chain acyl-CoA esters.;
Pathway
Metabolism of lipids;Mitochondrial Fatty Acid Beta-Oxidation;Metabolism;Fatty acid metabolism (Consensus)

Recessive Scores

pRec
0.0917

Intolerance Scores

loftool
0.417
rvis_EVS
0.15
rvis_percentile_EVS
64.11

Haploinsufficiency Scores

pHI
0.0921
hipred
N
hipred_score
0.313
ghis
0.501

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.170

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Acbd7
Phenotype

Gene ontology

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