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Relevance to Autism

A recurrent bigenic duplication involving the DYDC1 and DYDC2 genes was identified in seven unrelated ASD cases but not in 580 controls (Girirajan et al., 2013).

Molecular Function

This gene encodes a member of a family of proteins that contains a DPY30 domain. This gene locus overlaps with a closely related gene on the opposite strand (DYDC1).

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
ASD

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN517R001 
 copy_number_gain 
  
  
 Familial 
 Maternal 
 Simplex 
 GEN517R002 
 copy_number_gain 
  
  
 Familial 
 Paternal 
 Simplex 
 GEN517R003 
 copy_number_gain 
  
  
 Familial 
 Maternal 
 Simplex 
 GEN517R004 
 copy_number_gain 
  
  
 Familial 
 Maternal 
 Simplex 
 GEN517R005 
 copy_number_gain 
  
  
 Familial 
 Maternal 
 Simplex 
 GEN517R006 
 copy_number_gain 
  
  
 Familial 
 Maternal 
 Simplex 
 GEN517R007 
 copy_number_gain 
  
  
 Familial 
 Maternal 
 Multiplex 

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
10
Duplication
 1
 
10
Deletion-Duplication
 5
 
10
Deletion-Duplication
 25
 

No Animal Model Data Available

No PIN Data Available
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