CGNL1
Homo sapiens
Gene Name: Cingulin-like 1
Aliases: JACOP
Chromosome No: 15
Chromosome Band: 15q21.3
Genetic Category: Rare single gene variant
Aliases: JACOP
Chromosome No: 15
Chromosome Band: 15q21.3
Genetic Category: Rare single gene variant
Summary Statistics:
ASD Reports: 7
Recent Reports: 0
Annotated variants: 8
Associated CNVs: 6
Evidence score: 2
ASD Reports: 7
Recent Reports: 0
Annotated variants: 8
Associated CNVs: 6
Evidence score: 2
| Associated Disorders: |
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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
Support
The contribution of de novo coding mutations to autism spectrum disorder
ASD
Support
Mutational Landscape of Autism Spectrum Disorder Brain Tissue
ASD
Support
Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
ASD
Support
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
GEN718R004
splice_site_variant
c.1804-6_1807del
Familial
Maternal
Multiplex (monozygotic twins)
GEN718R008
frameshift_variant
c.1455del
p.Ser486ProfsTer12
Familial
Paternal
Multiplex
Common
No Common Variants Available
