HELP     Sign In
Search

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.

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
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
Support
The contribution of de novo coding mutations to autism spectrum disorder
ASD
Support
Synaptic, transcriptional and chromatin genes disrupted in autism.
ASD

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN773R001 
 missense_variant 
 c.377A>T 
 p.Lys126Ile 
 De novo 
 NA 
 Simplex 
 GEN773R002 
 stop_gained 
 c.1720C>T 
 p.Arg574Ter 
 Familial 
 Paternal 
  
 GEN773R003 
 missense_variant 
 c.1256G>A 
 p.Cys419Tyr 
 Familial 
 Paternal 
  
 GEN773R004 
 missense_variant 
 c.1256G>A 
 p.Cys419Tyr 
 Familial 
 Maternal 
  
 GEN773R005 
 missense_variant 
 c.1446C>A 
 p.Phe482Leu 
 Familial 
 Maternal 
  
 GEN773R006 
 missense_variant 
 c.1604G>A 
 p.Gly535Glu 
 Familial 
 Maternal 
  
 GEN773R007 
 missense_variant 
 c.281T>C 
 p.Leu94Ser 
 Familial 
 Paternal 
  
 GEN773R008 
 missense_variant 
 c.1337A>C 
 p.Gln446Pro 
 Familial 
 Maternal 
  
 GEN773R009 
 missense_variant 
 c.1337A>C 
 p.Gln446Pro 
 Familial 
 Maternal 
  
 GEN773R010 
 missense_variant 
 c.1337A>C 
 p.Gln446Pro 
 Familial 
 Paternal 
  
 GEN773R011 
 missense_variant 
 c.1148A>G 
 p.His383Arg 
 Familial 
 Maternal 
  
 GEN773R012 
 missense_variant 
 c.950C>T 
 p.Ser317Leu 
 Familial 
 Paternal 
  
 GEN773R013 
 missense_variant 
 c.1663C>T 
 p.Arg555Trp 
 Familial 
 Maternal 
  
 GEN773R014 
 stop_gained 
 c.1450C>T 
 p.Arg484Ter 
 Unknown 
  
 Unknown 
 GEN773R015 
 stop_gained 
 c.1225C>T 
 p.Arg409Ter 
 Unknown 
  
 Unknown 
 GEN773R016 
 stop_gained 
 c.1720C>T 
 p.Arg574Ter 
 Unknown 
  
 Unknown 
 GEN773R017 
 stop_gained 
 c.1261G>T 
 p.Glu421Ter 
 Unknown 
  
 Unknown 
 GEN773R018 
 frameshift_variant 
 c.289del 
 p.Gln97LysfsTer10 
 Unknown 
  
 Unknown 
 GEN773R019 
 frameshift_variant 
 c.979_983del 
 p.His327Ter 
 Unknown 
  
 Unknown 
 GEN773R020 
 missense_variant 
 c.1493A>G 
 p.Glu498Gly 
 Unknown 
  
 Unknown 
 GEN773R021 
 missense_variant 
 c.1148A>G 
 p.His383Arg 
 Unknown 
  
 Unknown 
 GEN773R022 
 frameshift_variant 
 c.588dup 
 p.Ile197TyrfsTer9 
 Familial 
 Paternal 
 Multiplex 
 GEN773R023 
 stop_gained 
 c.1450C>T 
 p.Arg484Ter 
 Familial 
 Maternal 
 Multiplex 
 GEN773R024 
 missense_variant 
 c.701A>G 
 p.Asn234Ser 
 De novo 
 NA 
  
 GEN773R025 
 frameshift_variant 
 c.1341del 
 p.Cys447Ter 
 Familial 
 Maternal 
 Simplex 

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
19
Deletion-Duplication
 28
 
19
Deletion-Duplication
 3
 
19
Duplication
 1
 
19
Duplication
 1
 
19
Deletion-Duplication
 9
 

No Animal Model Data Available

 

No Interactions Available
HELP
Copyright © 2017 MindSpec, Inc.