ACBD6
Basic information
Region (hg38): 1:180269653-180502954
Links
Phenotypes
GenCC
Source:
- intellectual disability (Limited), mode of inheritance: AR
- neurodevelopmental disorder with progressive movement abnormalities (Strong), mode of inheritance: AR
Clinical Genomic Database
Source:
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
- 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.
Effect | PathogenicP | Likely pathogenicLP | VUSVUS | Likely benignLB | BenignB | Sum |
---|---|---|---|---|---|---|
synonymous | 4 | |||||
missense | 29 | 30 | ||||
nonsense | 1 | |||||
start loss | 0 | |||||
frameshift | 5 | |||||
splice donor/acceptor (+/-2bp) | 2 | |||||
Total | 6 | 1 | 30 | 4 | 1 |
Highest pathogenic variant AF is 0.0000223062
GnomAD
Source:
dbNSFP
Source:
- 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
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
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