LRRC1leucine rich repeat containing 1
Autism Reports / Total Reports
5 / 7Rare Variants / Common Variants
2 / 4Aliases
LRRC1, LANO, FLJ10775, FLJ11834, dJ523E19.1, LRRC1Associated Syndromes
-Chromosome Band
6p12.1Associated Disorders
-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
SFARI Genomic Platforms
Reports related to LRRC1 (7 Reports)
# | Type | Title | Author, Year | Autism Report | Associated Disorders |
---|---|---|---|---|---|
1 | Highly Cited | Lano, a novel LAP protein directly connected to MAGUK proteins in epithelial cells | Saito H , et al. (2001) | No | - |
2 | Recent Recommendation | Palmitoylation of ERBIN is required for its plasma membrane localization | Izawa I , et al. (2008) | No | - |
3 | Primary | Common genetic variants on 5p14.1 associate with autism spectrum disorders | Wang K , et al. (2009) | Yes | - |
4 | Positive Association | A genome-wide association study of autism incorporating autism diagnostic interview-revised, autism diagnostic observation schedule, and social responsiveness scale | Connolly JJ , et al. (2012) | Yes | - |
5 | 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 schizophrenia | Autism Spectrum Disorders Working Group of The Psychiatric Genomics Consortium (2017) | Yes | - |
6 | Support | Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks | Ruzzo EK , et al. (2019) | Yes | - |
7 | Support | - | Hu C et al. (2023) | Yes | - |
Rare Variants (2)
Status | Allele Change | Residue Change | Variant Type | Inheritance Pattern | Parental Transmission | Family Type | PubMed ID | Author, Year |
---|---|---|---|---|---|---|---|---|
c.828T>A | p.Asn276Lys | missense_variant | Familial | Maternal | - | 37007974 | Hu C et al. (2023) | |
c.532G>T | p.Glu178Ter | stop_gained | Familial | Paternal | Multiplex | 31398340 | Ruzzo EK , et al. (2019) |
Common Variants (4)
Status | Allele Change | Residue Change | Variant Type | Inheritance Pattern | Paternal Transmission | Family Type | PubMed ID | Author, Year |
---|---|---|---|---|---|---|---|---|
c.577A>G;c.577A>T | p.Ile193Phe;p.Ile193Val | missense_variant | - | - | - | 22935194 | Connolly JJ , et al. (2012) | |
c.447-4668A>G;c.270-4668A>G | - | intron_variant | - | - | - | 28540026 | Autism Spectrum Disorders Working Group of The Psychiatric Genomics Consortium (2017) | |
c.356+1608C>T | T/C | intron_variant | - | - | - | 19404256 | Wang K , et al. (2009) | |
c.577A>G;c.577A>T | p.Ile193Phe;p.Ile193Val | missense_variant | - | - | - | 19404256 | Wang K , et al. (2009) |
SFARI Gene score
Strong Candidate
![](https://gene.sfari.org//wp-content/themes/sfari-gene/img/color-band/2.png)
![](https://gene.sfari.org//wp-content/themes/sfari-gene/img/color-band/s-null.png)
A single unreplicated association has been reported by Wang et al., 2009 (PMID: 19404256).
Score Delta: Score remained at 2
criteria met
See SFARI Gene'scoring criteriaWe considered a rigorous statistical comparison between cases and controls, yielding genome-wide statistical significance, with independent replication, to be the strongest possible evidence for a gene. These criteria were relaxed slightly for category 2.
4/1/2022
![icon](https://gene.sfari.org//wp-content/themes/sfari-gene/img/score-down.png)
Decreased from 3 to 2
Description
A single unreplicated association has been reported by Wang et al., 2009 (PMID: 19404256).
10/1/2019
![icon](https://gene.sfari.org//wp-content/themes/sfari-gene/img/score-down.png)
Decreased from 4 to 3
New Scoring Scheme
Description
A single unreplicated association has been reported by Wang et al., 2009 (PMID: 19404256).
Reports Added
[New Scoring Scheme]7/1/2019
![icon](https://gene.sfari.org//wp-content/themes/sfari-gene/img/score-same.png)
Decreased from 4 to 4
Description
A single unreplicated association has been reported by Wang et al., 2009 (PMID: 19404256).
4/1/2017
![icon](https://gene.sfari.org//wp-content/themes/sfari-gene/img/score-same.png)
Decreased from 4 to 4
Description
A single unreplicated association has been reported by Wang et al., 2009 (PMID: 19404256).
Reports Added
[Common genetic variants on 5p14.1 associate with autism spectrum disorders.2009] [A genome-wide association study of autism incorporating autism diagnostic interview-revised, autism diagnostic observation schedule, and social res...2012] [Lano, a novel LAP protein directly connected to MAGUK proteins in epithelial cells.2001] [Palmitoylation of ERBIN is required for its plasma membrane localization.2008] [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 ...2017]7/1/2014
![icon](https://gene.sfari.org//wp-content/themes/sfari-gene/img/score-up.png)
Increased from No data to 4
Description
A single unreplicated association has been reported by Wang et al., 2009 (PMID: 19404256).
4/1/2014
![icon](https://gene.sfari.org//wp-content/themes/sfari-gene/img/score-up.png)
Increased from No data to 4
Description
A single unreplicated association has been reported by Wang et al., 2009 (PMID: 19404256).
Krishnan Probability Score
Score 0.41283544811672
Ranking 21987/25841 scored genes
[Show Scoring Methodology]
ExAC Score
Score 0.57318420519845
Ranking 5123/18225 scored genes
[Show Scoring Methodology]
Sanders TADA Score
Score 0.87592615689944
Ranking 4610/18665 scored genes
[Show Scoring Methodology]
Larsen Cumulative Evidence Score
Score 13.5
Ranking 145/461 scored genes
[Show Scoring Methodology]
Zhang D Score
Score -0.1420289534541
Ranking 13885/20870 scored genes
[Show Scoring Methodology]