LRRC1
Homo sapiens
Gene Name: leucine rich repeat containing 1
Aliases: LANO; FLJ10775; FLJ11834; dJ523E19.1; LRRC1
Chromosome No: 6
Chromosome Band: 6p12.1
Genetic Category: Genetic Association-Rare single gene variant
Aliases: LANO; FLJ10775; FLJ11834; dJ523E19.1; LRRC1
Chromosome No: 6
Chromosome Band: 6p12.1
Genetic Category: Genetic Association-Rare single gene variant
Summary Statistics:
ASD Reports: 7
Recent Reports: 1
Annotated variants: 6
Associated CNVs: 0
Evidence score: 2
ASD Reports: 7
Recent Reports: 1
Annotated variants: 6
Associated CNVs: 0
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
Genetic association has been found between the LRRC1 gene and autism in two large cohorts (AGRE and ACC) of European ancestry and replicated in two other cohorts (CAP and CART) (Wang et al., 2009).
Molecular Function
cell adhesion
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Common genetic variants on 5p14.1 associate with autism spectrum disorders.
ASD
Positive Association
A genome-wide association study of autism incorporating autism diagnostic interview-revised, autism diagnostic observation schedule, and social res...
ASD
Positive Association
Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with ...
ASD
Support
Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
ASD
Highly Cited
Lano, a novel LAP protein directly connected to MAGUK proteins in epithelial cells.
Recent Recommendation
Palmitoylation of ERBIN is required for its plasma membrane localization.
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
Common
Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
GEN146C001
intron_variant
rs9395885
c.356+1608C>T
T/C
US and European
Discovery
GEN146C002
missense_variant
rs9349688
c.577A>G;c.577A>T
p.Ile193Phe;p.Ile193Val
US and European
Discovery
GEN146C003
missense_variant
rs9349688
c.577A>G;c.577A>T
p.Ile193Phe;p.Ile193Val
Discovery cohort: 2165 participants from AGRE
Discovery
GEN146C004
intron_variant
rs4715431
c.447-4668A>G;c.270-4668A>G
7387 ASD cases and 8567 controls from Autism Center of Excellence Network (ACE), Autism Genetic Resource Exchange (AGRE), Autism Genome Project (AGP), Finnish Case-Control ASD Collection, NIMH Repository and Montreal/Boston (MonBos) Collection, Population-Based Autism Genetics and Environment Study (PAGES), Simons Simplex Collection (SSC), and Weiss Laboratory Autism Collection
Discovery
