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Relevance to Autism

This gene was originally identified as an ASD candidate gene based on its enrichment in an autism-associated protein interaction module. Sequencing of post-mortem brain tissue from 25 ASD cases resulted in the identification of significant non-synonymous variants in this gene with an expected false-positive rate at 0.1, confirming the involvement of this module with autism; this finding was further validated by exome sequencing of an independent cohort of 505 ASD cases and 491 controls (Li et al., 2014).

Molecular Function

Involved in neurite outgrowth and cell migration in hippocampal explants.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Integrated systems analysis reveals a molecular network underlying autism spectrum disorders.
ASD
Support
Large-scale discovery of novel genetic causes of developmental disorders.
Unknown diagnosis
Support
Integrating de novo and inherited variants in 42
ASD
Support
Mutational Landscape of Autism Spectrum Disorder Brain Tissue
ASD
Support
Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
ASD
Support
Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease.
ID
Microcephaly

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN697R001 
 nonsynonymous_variant 
  
  
 Unknown 
  
 Unknown 
 GEN697R002 
 missense_variant 
 c.271C>T 
 p.Arg91Cys 
 De novo 
  
 Unknown 
 GEN697R003a 
 missense_variant 
 c.2516G>A 
 p.Arg839Lys 
 Familial 
 Both parents 
 Multiplex 
 GEN697R004 
 stop_gained 
 c.576C>G 
 p.Tyr192Ter 
 Familial 
 Maternal 
 Multiplex 
 GEN697R005 
 frameshift_variant 
 c.2924del 
 p.Pro975LeufsTer10 
 Familial 
 Paternal 
 Multiplex 
 GEN697R006 
 missense_variant 
 c.3507A>T 
 p.Glu1169Asp 
 Unknown 
  
  
 GEN697R007 
 synonymous_variant 
 c.1845C>T 
 p.Asn615%3D 
 De novo 
  
  
 GEN697R008 
 missense_variant 
 c.2939G>A 
 p.Arg980His 
 De novo 
  
  
 GEN697R009 
 missense_variant 
 c.3658G>A 
 p.Ala1220Thr 
 De novo 
  
 Simplex 

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
1
Duplication
 44
 
1
Duplication
 1
 
1
Duplication
 1
 
1
Deletion
 2
 
1
Deletion
 2
 
1
Deletion
 2
 
1
Deletion
 2
 
1
Deletion-Duplication
 13
 
1
Deletion
 2
 

No Animal Model Data Available

No PIN Data Available
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