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

ENSG00000230124 ∙ NCBI:84320 ∙ OMIM:616352 ∙ HGNC:23339 ∙ Uniprot:Q9BR61 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• intellectual disability (Limited), mode of inheritance: AR

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Neurodevelopmental disorder with progressive movement abnormalities	AR	General	Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing	Craniofacial; Neurologic	36457943; 37951597

ClinVar

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

• Short stature-pituitary and cerebellar defects-small sella turcica syndrome (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.

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				2	2	4
missense			9			9
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)			1			1
splice region				2		2
non coding	1	1	50	23	11	86
Total	1	1	60	25	13

Highest pathogenic variant AF is 0.00000657

Variants in ACBD6

This is a list of pathogenic ClinVar variants found in the ACBD6 region.

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

Position	Type	Phenotype	Significance	ClinVar
1-180271375-T-C		Short stature-pituitary and cerebellar defects-small sella turcica syndrome	Benign (Jan 29, 2024)
1-180271378-A-C		Short stature-pituitary and cerebellar defects-small sella turcica syndrome	Pathogenic (Jan 27, 2014)
1-180271384-C-G			Uncertain significance (Nov 30, 2019)
1-180271392-C-T		Short stature-pituitary and cerebellar defects-small sella turcica syndrome	Uncertain significance (Sep 23, 2020)
1-180271395-G-A		Inborn genetic diseases	Uncertain significance (Nov 15, 2024)
1-180271403-C-T			Uncertain significance (Apr 29, 2024)
1-180271410-G-A			Uncertain significance (Mar 25, 2023)
1-180271414-C-A		Short stature-pituitary and cerebellar defects-small sella turcica syndrome	Uncertain significance (Jan 12, 2018)
1-180271426-C-T		LHX4-related disorder	Likely benign (Nov 28, 2022)
1-180271497-T-C		Short stature-pituitary and cerebellar defects-small sella turcica syndrome	Uncertain significance (Sep 01, 2022)
1-180271497-T-G		Short stature-pituitary and cerebellar defects-small sella turcica syndrome	Pathogenic (Mar 01, 2008)
1-180271530-T-C		Short stature-pituitary and cerebellar defects-small sella turcica syndrome	Uncertain significance (Nov 05, 2018)
1-180271538-A-G			Uncertain significance (Nov 21, 2017)
1-180271617-C-T			Benign (Nov 12, 2018)
1-180271818-T-C			Likely benign (Oct 22, 2023)
1-180271831-GCAGGTTTGGTTT-G			Uncertain significance (Mar 01, 2024)
1-180271834-G-C		Short stature-pituitary and cerebellar defects-small sella turcica syndrome	Pathogenic (Nov 01, 2001)
1-180271836-T-G		Short stature-pituitary and cerebellar defects-small sella turcica syndrome	Likely benign (May 28, 2019)
1-180271849-C-G		Short stature-pituitary and cerebellar defects-small sella turcica syndrome	Uncertain significance (May 22, 2022)
1-180271851-G-A		Inborn genetic diseases	Uncertain significance (Oct 10, 2023)
1-180271852-A-C			Uncertain significance (Dec 17, 2022)
1-180271856-G-C		Short stature-pituitary and cerebellar defects-small sella turcica syndrome	Pathogenic (Mar 01, 2008)
1-180271880-G-A			Uncertain significance (Apr 05, 2019)
1-180271884-C-T		not specified	Uncertain significance (Sep 04, 2024)
1-180271889-C-T			Uncertain significance (Jun 27, 2022)

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

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

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

Mouse Genome Informatics

• Gene name: Acbd6

Gene ontology

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