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Relevance to Autism

A de novo loss-of-function variant in the APBB1 gene was identified in an ASD proband from the Simons Simplex Collection in Iossifov et al., 2014. TADA-Annotations (TADA-A) analysis of whole-genome sequencing data from five studies with a total of 314 ASD-affected subjects in Liu et al., 2018 identified APBB1 as an ASD risk gene with a false discovery rate (FDR) < 0.1; among the de novo variants associated with this gene in ASD subjects was a loss-of-function variant, a regulatory SNV, and two conserved regulatory SNVs. APBB1 expression had previously been shown to be significantly down-regulated in the cerebellum of autistic patients (Zeidn-Chuli et al., 2014).

Molecular Function

Transcription coregulator that can have both coactivator and corepressor functions. Adapter protein that forms a transcriptionally active complex with the gamma-secretase-derived amyloid precursor protein (APP) intracellular domain.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
The contribution of de novo coding mutations to autism spectrum disorder.
ASD
Support
Altered expression of Alzheimer's disease-related genes in the cerebellum of autistic patients: a model for disrupted brain connectome and therapy.
ASD
Recent Recommendation
A Statistical Framework for Mapping Risk Genes from De Novo Mutations in Whole-Genome-Sequencing Studies.
ASD

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN1014R001 
 frameshift_variant 
 insC 
  
 De novo 
  
 Simplex 
 GEN1014R002 
 loss_of_function_variant 
  
  
 De novo 
  
  
 GEN1014R003 
 regulatory_region_variant 
  
  
 De novo 
  
  
 GEN1014R004 
 regulatory_region_variant 
  
  
 De novo 
  
  
 GEN1014R005 
 regulatory_region_variant 
  
  
 De novo 
  
  

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
11
Deletion-Duplication
 33
 
11
Duplication
 1
 

No Animal Model Data Available

 

No Interactions Available
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