ZNF559
Homo sapiens
Gene Name: Zinc finger protein 559
Aliases: NBLA00121
Chromosome No: 19
Chromosome Band: 19p13.2
Genetic Category: Rare single gene variant
Aliases: NBLA00121
Chromosome No: 19
Chromosome Band: 19p13.2
Genetic Category: Rare single gene variant
Summary Statistics:
ASD Reports: 9
Recent Reports: 0
Annotated variants: 33
Associated CNVs: 5
Evidence score: 3
ASD Reports: 9
Recent Reports: 0
Annotated variants: 33
Associated CNVs: 5
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).
Molecular Function
The protein encoded by this gene may be involved in transcriptional regulation.
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
The contribution of de novo coding mutations to autism spectrum disorder
ASD
Support
Synaptic, transcriptional and chromatin genes disrupted in autism.
ASD
Support
Mutational Landscape of Autism Spectrum Disorder Brain Tissue
ASD
Support
Phenotype-to-genotype approach reveals head-circumference-associated genes in an autism spectrum disorder cohort.
ASD
Macrocephaly
Support
Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes
ASD
Support
Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
ASD