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Relevance to Autism

Three novel overlapping CNVs involving the CIB2 gene were identified in unrelated ASD cases (Prasad et al., 2012).

Molecular Function

The protein encoded by this gene is similar to that of KIP/CIB, calcineurin B, and calmodulin. The encoded protein is a calcium-binding regulatory protein that interacts with DNA-dependent protein kinase catalytic subunits (DNA-PKcs), and it is involved in photoreceptor cell maintenance.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
ASD

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN500R001 
 copy_number_gain 
  
  
 Familial 
 Maternal 
 Simplex 
 GEN500R002 
 copy_number_gain 
  
  
 Familial 
 Paternal 
 Simplex 
 GEN500R003 
 copy_number_gain 
  
  
 Familial 
 Maternal 
 Multiplex 

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
15
Duplication
 66
  construct
15
Duplication
 1
 
15
Deletion
 1
 
15
Duplication
 1
 
15
Duplication
 2
 
15
Duplication
 1
 
15
Deletion-Duplication
 7
 

No Animal Model Data Available

No PIN Data Available
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