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Relevance to Autism

Genetic association has been found between the USP9Y gene and autism in an ACC cohort (Wang et al., 2009).

Molecular Function

This gene is a member of the peptidase C19 family. It encodes a protein that is similar to ubiquitin-specific proteases, which cleave the ubiquitin moiety from ubiquitin-fused precursors and ubiquitinylated proteins.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Common genetic variants on 5p14.1 associate with autism spectrum disorders.
ASD
Support
Neurogenetic analysis of childhood disintegrative disorder.
Childhood disintegrative disorder

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN313R001 
 stop_gained 
 c.364C>T 
 p.Arg122Ter 
 Familial 
 Paternal 
 Multi-generational 

Common

Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
 GEN313C001 
 intron_variant 
 rs2032597 
 c.773+131A>C 
 C/A 
 ACC 
 Discovery 
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
Y
Duplication
 1
 
Y
Duplication
 1
 
Y
Duplication
 1
 
Y
Duplication
 1
 
Y
Duplication
 2
 
Y
Deletion-Duplication
 1
 
Y
Duplication
 1
 
Y
Duplication
 1
 
Y
Duplication
 1
 
Y
Duplication
 7
 
Y
Duplication
 1
 
Y
Duplication
 1
 
Y
Duplication
 1
 
Y
Deletion
 1
 

No Animal Model Data Available

No PIN Data Available
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