ACBD7

acyl-CoA binding domain containing 7

Basic information

Region (hg38): 10:15075475-15088776

Links

ENSG00000176244 ∙ NCBI:414149 ∙ ∙ HGNC:17715 ∙ Uniprot:Q8N6N7 ∙ 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 ACBD7 gene.

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.

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						0
missense			5	2		7
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	5	2	0

Variants in ACBD7

This is a list of pathogenic ClinVar variants found in the ACBD7 region.

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

Position	Type	Phenotype	Significance	ClinVar
10-15078538-C-T		not specified	Uncertain significance (Oct 26, 2022)
10-15078573-T-C		not specified	Uncertain significance (Apr 11, 2023)
10-15078577-C-G		not specified	Uncertain significance (Mar 31, 2024)
10-15078582-G-A		not specified	Likely benign (Mar 03, 2022)
10-15078585-G-A		not specified	Uncertain significance (Sep 25, 2023)
10-15078600-A-G		not specified	Uncertain significance (Nov 07, 2022)
10-15078603-C-T		not specified	Uncertain significance (Feb 26, 2024)
10-15078970-T-C		not specified	Uncertain significance (Apr 15, 2024)
10-15078998-C-T		not specified	Likely benign (Mar 20, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ACBD7	protein_coding	protein_coding	ENST00000356189	4	11254

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.116	0.788	125468	1	260	125729	0.00104

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.0321	47	47.6	0.987	0.00000252	565
Missense in Polyphen		19	14.326	1.3263		180
Synonymous	-0.552	22	18.9	1.16	0.00000120	155
Loss of Function	1.31	2	5.25	0.381	2.21e-7	65

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000122	0.000122
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.000106	0.000106
Middle Eastern	0.00	0.00
South Asian	0.00804	0.00804
Other	0.000163	0.000163

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

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

Mouse Genome Informatics

• Gene name: Acbd7

Gene ontology

• Molecular function: fatty-acyl-CoA binding;lipid binding