USP9Y
Homo sapiens
Gene Name: ubiquitin specific peptidase 9, Y-linked
Aliases: DFFRY, SPGFY2
Chromosome No: Y
Chromosome Band: Yq11.221
Genetic Category: Genetic Association-Rare single gene variant
Aliases: DFFRY, SPGFY2
Chromosome No: Y
Chromosome Band: Yq11.221
Genetic Category: Genetic Association-Rare single gene variant
Summary Statistics:
ASD Reports: 2
Recent Reports: 0
Annotated variants: 2
Associated CNVs: 15
Evidence score: 2
ASD Reports: 2
Recent Reports: 0
Annotated variants: 2
Associated CNVs: 15
Evidence score: 2
| Associated Disorders: |
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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