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Relevance to Autism

Three de novo missense variants in the PHRF1 gene were identified in simplex ASD probands, with no de novo events in this gene observed in 1,786 unaffected siblings from the Simons Simplex Collection (P=0.20) (De Rubeis et al., 2014; Iossifov et al., 2014; Krumm et al., 2015).

Molecular Function

This gene encodes a protein of unknown function.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Synaptic, transcriptional and chromatin genes disrupted in autism.
ASD
Support
Excess of rare, inherited truncating mutations in autism.
ASD
Support
The contribution of de novo coding mutations to autism spectrum disorder.
ASD
Recent Recommendation
Low load for disruptive mutations in autism genes and their biased transmission.
ASD

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN738R001 
 missense_variant 
 c.3982G>A 
 p.Asp1328Asn 
 De novo 
  
 Simplex 
 GEN738R002 
 missense_variant 
 c.4690C>G 
 p.Leu1564Val 
 De novo 
  
 Simplex 
 GEN738R003 
 missense_variant 
 c.4108G>A 
 p.Asp1370Asn 
 De novo 
  
 Simplex 

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
11
Deletion-Duplication
 20
 
11
Duplication
 1
 
11
Duplication
 1
 

No Animal Model Data Available

 

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