USP45
Homo sapiens
Gene Name: Ubiquitin specific peptidase 45
Aliases:
Chromosome No: 6
Chromosome Band: 6q16.2
Genetic Category: Rare single gene variant-Rare single gene variant/Functional
Aliases:
Chromosome No: 6
Chromosome Band: 6q16.2
Genetic Category: Rare single gene variant-Rare single gene variant/Functional
Summary Statistics:
ASD Reports: 8
Recent Reports: 0
Annotated variants: 10
Associated CNVs: 7
Evidence score: 2
ASD Reports: 8
Recent Reports: 0
Annotated variants: 10
Associated CNVs: 7
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
This gene was identified by TADA (transmission and de novo association) analysis of a combined dataset from the Simons Simplex Collection (SSC) and the Autism Sequencing Consortium (ASC) as a gene strongly enriched for variants likely to affect ASD risk with a false discovery rate (FDR) of <0.1 (Sanders et al., 2015); among the variants identified in this gene was one de novo loss-of-function (LoF) variant.
Molecular Function
The protein encoded by this gene acts catalyzes the thiol-dependent hydrolysis of ester, thioester, amide, peptide and isopeptide bonds formed by the C-terminal Gly of ubiquitin (a 76-residue protein attached to proteins as an intracellular targeting signal).
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci.
ASD
Support
Massively parallel reporter assays discover de novo exonic splicing mutants in paralogs of Autism genes
ASD
Support
Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
ASD
Support
The contribution of de novo coding mutations to autism spectrum disorder
ASD
Support
Rare Variant Burden and Behavioral Phenotypes in Children with Autism in Slovakia
ASD
Support
Whole genome sequencing analysis identifies sex differences of familial pattern contributing to phenotypic diversity in autism
ASD
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN770R007
frameshift_variant
c.1965del
p.Ser656ValfsTer7
Familial
Paternal
Multiplex
GEN770R009
frameshift_variant
c.2105_2106del
p.His702ArgfsTer18
Unknown
Common
No Common Variants Available
