RIF1
Homo sapiens
Gene Name: replication timing regulatory factor 1
Aliases:
Chromosome No: 2
Chromosome Band: 2q23.3
Genetic Category: Rare single gene variant
Aliases:
Chromosome No: 2
Chromosome Band: 2q23.3
Genetic Category: Rare single gene variant
Summary Statistics:
ASD Reports: 3
Recent Reports: 0
Annotated variants: 13
Associated CNVs: 13
Evidence score: 3
ASD Reports: 3
Recent Reports: 0
Annotated variants: 13
Associated CNVs: 13
Evidence score: 3
| Associated Disorders: |
|
Relevance to Autism
RIF1 was identified as an ASD candidate gene in Wilfert et al., 2021 based on the discovery of private likely gene-disruptive (LGD) variants in this highly constrained (pLI 0.99) gene that were exclusively transmitted to five ASD probands in four independent families.
Molecular Function
This gene encodes a protein that shares homology with the yeast teleomere binding protein, Rap1 interacting factor 1. This protein localizes to aberrant telomeres and may be involved in DNA repair.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Recent ultra-rare inherited variants implicate new autism candidate risk genes
ASD
Support
Mutational Landscape of Autism Spectrum Disorder Brain Tissue
ASD
