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Relevance to Autism

De novo loss-of-function (LoF) variants in the GGNBP2 gene were identified in an ASD proband from the Autism Sequencing Consortium (De Rubeis et al., 2014) and an ASD proband from a cohort of 262 Japanese trios (Takata et al., 2018). TADA-Denovo analysis using a combined dataset of previously published cohorts from the Simons Simplex Collection and the Autism Sequencing Consortium, as well as the Japanese ASD cohort from Takata et al., 2018, identified GGNBP2 as a gene significantly enriched in damaging de novo mutations in ASD cases (pBH < 0.05).

Molecular Function

May be involved in spermatogenesis.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Synaptic, transcriptional and chromatin genes disrupted in autism.
ASD
Support
Integrating de novo and inherited variants in 42
ASD
Recent Recommendation
Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Disorder.
ASD

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN997R001 
 stop_gained 
 c.1681C>T 
 p.Arg561Ter 
 De novo 
  
  
 GEN997R002 
 stop_gained 
 c.673C>T 
 p.Arg225Ter 
 De novo 
  
 Simplex 
 GEN997R003 
 frameshift_variant 
 c.1926dup 
 p.Ile643TyrfsTer5 
 De novo 
  
  
 GEN997R004 
 synonymous_variant 
 c.2079G>A 
 p.Thr693%3D 
 De novo 
  
  

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
17
Deletion-Duplication
 74
 

No Animal Model Data Available

 

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