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Relevance to Autism

A deletion disurpting an exon of the CECR2 gene was detected in a female ASD patient; this variant was not observed in controls (Prasad et al., 2012).

Molecular Function

This gene encodes a bromodomain-containing protein that is involved in chromatin remodeling, and may additionally play a role in DNA damage response. The encoded protein functions as part of an ATP-dependent complex that is involved in neurulation. This gene is a candidate gene for Cat Eye Syndrome.

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
Support
Synaptic, transcriptional and chromatin genes disrupted in autism.
ASD

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN507R001 
 copy_number_loss 
  
  
 Unknown 
 Not maternal 
 Simplex 
 GEN507R002 
 copy_number_loss 
  
  
 Unknown 
  
 Unknown 
 GEN507R003 
 stop_gained 
 c.1355T>A 
 p.Tyr452Ter 
 De novo 
  
 Simplex 
 GEN507R004 
 intron_variant 
 G>C 
  
 De novo 
  
 Simplex 

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
22
Deletion-Duplication
 15
 
22
Duplication
 5
 
22
Duplication
 1
 
22
Duplication
 1
 
22
Deletion-Duplication
 80
  construct

No Animal Model Data Available

 

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