PRSS38
Homo sapiens
Gene Name: serine protease 38
Aliases: MPN2
Chromosome No: 1
Chromosome Band: 1q42.13
Genetic Category: Genetic association-Rare single gene variant
Aliases: MPN2
Chromosome No: 1
Chromosome Band: 1q42.13
Genetic Category: Genetic association-Rare single gene variant
Summary Statistics:
ASD Reports: 4
Recent Reports: 0
Annotated variants: 5
Associated CNVs: 9
Evidence score: 2
ASD Reports: 4
Recent Reports: 0
Annotated variants: 5
Associated CNVs: 9
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
In a genome-wide association study of 2165 participants from the Autism Genetic Resource Exchange (AGRE) performed to examine associations between genomic loci and endophenotypes associated with ASDs, it was shown that one item ("functional play with objects") on the Autism Diagnostic Observation Schedule (ADOS) reached genome-wide significance below the 5.01008 threshold, and associated with the PRSS38 gene (Connolly et al., 2012).
Molecular Function
A member of the peptidase S1 family; thought to be secreted
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
A genome-wide association study of autism incorporating autism diagnostic interview-revised, autism diagnostic observation schedule, and social res...
ASD
Support
The contribution of de novo coding mutations to autism spectrum disorder
ASD
Support
Exome sequencing of extended families with autism reveals genes shared across neurodevelopmental and neuropsychiatric disorders.
ASD
Support
Mutational Landscape of Autism Spectrum Disorder Brain Tissue
ASD
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN458R001
missense_variant
c.368C>A
p.Ala123Asp
Familial
Extended multiplex (at least one pair of ASD affec
Common
Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
GEN458C001
intergenic_variant
rs4925506
Discovery cohort: 2165 participants from AGRE
Discovery
GEN458C002
intergenic_variant
rs4925506
Replication cohort: 1168 families from the Autism Genome Project (AGP)
Replication