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Relevance to Autism

Two de novo missense variants in the CGNL1 gene have been identified in ASD probands from the Simons Simplex Collection, with no de novo events in this gene observed in 1,786 unaffected siblings (P=0.04) (Iossifov et al., 2014; Krumm et al., 2015).

Molecular Function

This gene encodes a member of the cingulin family that localizes to both adherens and tight cell-cell junctions and mediates junction assembly and maintenance by regulating the activity of the small GTPases RhoA and Rac1.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Excess of rare, inherited truncating mutations in autism.
ASD
Support
Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Disorder.
ASD
Support
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

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN718R001 
 missense_variant 
 c.2817G>T 
 p.Met939Ile 
 De novo 
 NA 
 Simplex 
 GEN718R002 
 missense_variant 
 c.2920C>A 
 p.Gln974Lys 
 De novo 
 NA 
 Simplex 
 GEN718R003 
 missense_variant 
 c.2677G>C 
 p.Ala893Pro 
 De novo 
 NA 
 Simplex 
 GEN718R004 
 splice_site_variant 
 c.1804-6_1807del 
  
 Familial 
 Maternal 
 Multiplex (monozygotic twins) 

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
15
Duplication
 66
  construct
15
Deletion
 1
 
15
Duplication
 1
 
15
Deletion-Duplication
 18
 
15
Deletion
 6
 
15
Deletion
 1
 

No Animal Model Data Available

 

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