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Relevance to Autism

Transmission And De Novo Association (TADA) analysis of whole-genome sequencing data from a cohort of 4,551 individuals in 1,004 multiplex families having two or more autistic children identified PLEKHA8 as a novel ASD risk gene with a false discovery rate (FDR) less than 0.1. De novo missense variants in this gene have also been identified in two ASD probands from the Simons Simplex Collection (Iossifov et al., 2014).

Molecular Function

The protein encoded by this gene enables several functions, including ceramide binding activity, glycolipid transfer activity, and phosphatidylinositol-4-phosphate binding activity. It is involved in ER to Golgi ceramide transport and is located in nucleoplasm and trans-Golgi network.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Support
The contribution of de novo coding mutations to autism spectrum disorder
ASD

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN1411R001 
 frameshift_variant 
 c.567_576del 
 p.Gln191CysfsTer7 
 De novo 
  
 Multiplex 
 GEN1411R002 
 missense_variant 
 c.178C>A 
 p.Arg60Ser 
 De novo 
  
 Simplex 
 GEN1411R003 
 missense_variant 
 c.1123A>G 
 p.Asn375Asp 
 De novo 
  
 Simplex 

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
7
Deletion
 2
 
7
Deletion
 1
 
7
Duplication
 1
 
7
Duplication
 1
 
7
Deletion
 2
 

No Animal Model Data Available

 

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