HELP     Sign In
Search

Relevance to Autism

A SNP within the ZNF827 gene showed association in the secondary analyses in a combined AGP GWA sample (Anney et al., 2012).

Molecular Function

May be involved in transcriptional regulation

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Individual common variants exert weak effects on the risk for autism spectrum disorderspi.
ASD
Support
Integrating de novo and inherited variants in 42
ASD
Support
Mutational Landscape of Autism Spectrum Disorder Brain Tissue
ASD

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN398R001 
 missense_variant 
 c.512G>A 
 p.Arg171Lys 
 Unknown 
  
  
 GEN398R002 
 synonymous_variant 
 c.1878A>T 
 p.Pro626%3D 
 De novo 
  
  
 GEN398R003 
 synonymous_variant 
 c.486C>T 
 p.His162%3D 
 De novo 
  
  

Common

Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
 GEN398C001 
 intron_variant 
 rs12331851 
 c.43+10222C>T 
  
 Autism Genome Project (AGP) 
 Combined (Stages 1 and 2) 
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
4
Duplication
 1
 
4
Duplication
 1
 
4
Duplication
 1
 
4
Duplication
 1
 
4
Duplication
 1
 
4
Deletion-Duplication
 5
 

No Animal Model Data Available


Interactor Symbol Interactor Name Interactor Organism Entrez ID Uniprot ID Interaction Type Evidence Reference
CHD8 chromodomain helicase DNA binding protein 8 57680 Q9HCK8 CHIP-seq
Cotney J , et al. 2015

HELP
Copyright © 2017 MindSpec, Inc.