ACBD4

acyl-CoA binding domain containing 4

Basic information

Region (hg38): 17:45132600-45144181

Links

ENSG00000181513 ∙ NCBI:79777 ∙ OMIM:619968 ∙ HGNC:23337 ∙ Uniprot:Q8NC06 ∙ 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 ACBD4 gene.

• not_specified (42 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ACBD4 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001135705.3. 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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous			5			5
missense			30	5		35
nonsense			1	1		2
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	36	6	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ACBD4	protein_coding	protein_coding	ENST00000431281	9	11582

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000109	0.942	124762	0	30	124792	0.000120

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.298	197	209	0.942	0.0000120	2206
Missense in Polyphen		60	57.72	1.0395		566
Synonymous	0.278	81	84.2	0.961	0.00000543	680
Loss of Function	1.83	13	22.3	0.583	0.00000123	212

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000869	0.0000869
Ashkenazi Jewish	0.0000998	0.0000993
East Asian	0.000501	0.000501
Finnish	0.00	0.00
European (Non-Finnish)	0.0000984	0.0000971
Middle Eastern	0.000501	0.000501
South Asian	0.000198	0.000196
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Binds medium- and long-chain acyl-CoA esters and may function as an intracellular carrier of acyl-CoA esters.
• Pathway: Metabolism of lipids;Peroxisomal lipid metabolism;Metabolism;Fatty acid metabolism (Consensus)

Recessive Scores

• pRec: 0.0811

Intolerance Scores

• loftool: 0.822
• rvis_EVS: 0.46
• rvis_percentile_EVS: 78.59

Haploinsufficiency Scores

• pHI: 0.0806
• hipred: N
• hipred_score: 0.123
• ghis: 0.455

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0142

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Acbd4

Gene ontology

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