RANBP17
Homo sapiens
Gene Name: RAN binding protein 17
Aliases:
Chromosome No: 5
Chromosome Band: 5q35.1
Genetic Category: Rare single gene variant
Aliases:
Chromosome No: 5
Chromosome Band: 5q35.1
Genetic Category: Rare single gene variant
Summary Statistics:
ASD Reports: 9
Recent Reports: 0
Annotated variants: 11
Associated CNVs: 7
Evidence score: 3
ASD Reports: 9
Recent Reports: 0
Annotated variants: 11
Associated CNVs: 7
Evidence score: 3
| Associated Disorders: |
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Relevance to Autism
This gene was identified by TADA (transmission and de novo association) analysis of a combined dataset from the Simons Simplex Collection (SSC) and the Autism Sequencing Consortium (ASC) as a gene strongly enriched for variants likely to affect ASD risk with a false discovery rate (FDR) of <0.1 (Sanders et al., 2015); among the variants observed in this gene were two de novo loss-of-function (LoF) variants.
Molecular Function
The protein encoded by this gene may function as a nuclear transport receptor.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci.
ASD
Support
Analysis of recent shared ancestry in a familial cohort identifies coding and noncoding autism spectrum disorder variants
ASD
DD
Support
Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
ASD
Support
Both rare and common genetic variants contribute to autism in the Faroe Islands.
ASD
Support
De Novo Sequence and Copy Number Variants Are Strongly Associated with Tourette Disorder and Implicate Cell Polarity in Pathogenesis.
TS
Support
The contribution of de novo coding mutations to autism spectrum disorder
ASD
Support
Synaptic, transcriptional and chromatin genes disrupted in autism.
ASD
