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Relevance to Autism

Rare mutations in the PPP1R3F gene have been identified with autism (Piton et al., 2011).

Molecular Function

Regulatory subunit of type-1 protein phosphatase

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia.
ASD
SCZ
Support
Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
ASD
Support
Analysis of the chromosome X exome in patients with autism spectrum disorders identified novel candidate genes, including TMLHE.
ASD
ID
Highly Cited
Regulator-driven functional diversification of protein phosphatase-1 in eukaryotic evolution.

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN200R001 
 missense_variant 
 c.733T>C 
 p.Phe245Leu 
 Familial 
 Maternal 
  
 GEN200R002 
 missense_variant 
 c.1321G>A 
 p.Glu441Lys 
 Unknown 
  
 Multiplex 
 GEN200R003 
 stop_gained 
 c.-32+837C>T 
  
 Unknown 
  
 Multiplex 

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
X
Deletion-Duplication
 12
 
X
Duplication
 1
 
X
Duplication
 5
 
X
Duplication
 1
 
X
Deletion
 1
 
X
Deletion
 4
 
X
Deletion-Duplication
 1
 
X
Deletion
 1
 
X
Deletion-Duplication
 18
 

No Animal Model Data Available

No PIN Data Available
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