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Relevance to Autism

A rare duplication in the UBL7 gene has been identified with ASD (Salyakina et al., 2011).

Molecular Function

This protein binds ubiquitin.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Copy number variants in extended autism spectrum disorder families reveal candidates potentially involved in autism risk.
ASD
ID

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN300R001 
 copy_number_gain 
  
  
 Familial 
 Maternal 
 Extended multiplex 

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
15
Duplication
 66
  construct
15
Duplication
 1
 
15
Deletion
 9
 
15
Deletion
 3
 
15
Deletion
 1
 
15
Duplication
 2
 
15
Deletion-Duplication
 13
 
15
Deletion
 8
 
15
Duplication
 1
 

No Animal Model Data Available

 

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