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Relevance to Autism

This gene was identified as a novel ASD candidate gene in Gonzalez-Mantilla et al., 2016 based on the presence of two potentially pathogenic loss-of-function variants in ASD cases (a de novo frameshift variant in an SSC proband in Iossifov et al., 2014, and a de novo frameshift variant in an ASD proband from a multiplex family in Yuen et al., 2015).

Molecular Function

Essential component of the mitotic checkpoint, which prevents cells from prematurely exiting mitosis.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
The contribution of de novo coding mutations to autism spectrum disorder
ASD
Support
Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
ASD
Support
Whole-genome sequencing of quartet families with autism spectrum disorder.
ASD
Recent Recommendation
A Cross-Disorder Method to Identify Novel Candidate Genes for Developmental Brain Disorders.

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN798R001 
 frameshift_variant 
 c.1364_1365insG 
 p.Asn456LysfsTer3 
 De novo 
 NA 
 Simplex 
 GEN798R002 
 frameshift_variant 
 c.344_345insC 
 p.Ser116PhefsTer7 
 De novo 
 NA 
 Multiplex 
 GEN798R003 
 splice_site_variant 
 c.572-2A>G 
  
 Familial 
 Maternal 
 Multiplex 
 GEN798R004 
 splice_site_variant 
 c.1345+2T>C 
  
 Familial 
 Maternal 
 Multiplex 

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
15
Duplication
 66
  construct
15
Duplication
 1
 
15
Deletion-Duplication
 11
 

No Animal Model Data Available

 

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