PHRF1
Homo sapiens
Gene Name: PHD and ring finger domains 1
Aliases: PPP1R125, RNF221
Chromosome No: 11
Chromosome Band: 11p15.5
Genetic Category: Rare single gene variant-
Aliases: PPP1R125, RNF221
Chromosome No: 11
Chromosome Band: 11p15.5
Genetic Category: Rare single gene variant-
Summary Statistics:
ASD Reports: 5
Recent Reports: 1
Annotated variants: 6
Associated CNVs: 3
Evidence score: 2
ASD Reports: 5
Recent Reports: 1
Annotated variants: 6
Associated CNVs: 3
Evidence score: 2
| Associated Disorders: |
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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
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
