NELL1
Homo sapiens
Gene Name: neural EGFL like 1
Aliases: IDH3GL, NRP1
Chromosome No: 11
Chromosome Band: 11p15.1
Genetic Category: Genetic association-Rare single gene variant
Aliases: IDH3GL, NRP1
Chromosome No: 11
Chromosome Band: 11p15.1
Genetic Category: Genetic association-Rare single gene variant
Summary Statistics:
ASD Reports: 2
Recent Reports: 0
Annotated variants: 3
Associated CNVs: 5
Evidence score: null
ASD Reports: 2
Recent Reports: 0
Annotated variants: 3
Associated CNVs: 5
Evidence score: null
Associated Disorders: |
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Relevance to Autism
In a genome-wide association study of 2165 participants from the Autism Genetic Resource Exchange (AGRE) performed to examine associations between genomic loci and endophenotypes associated with ASDs, it was shown that item 85 (faints, fits, or blackouts referring to an unexplained change in level of consciousness with or without falling or jerking movements of the limbs) on the Autism Diagnostic Interview-Related (ADIR is significantly associated with the NELL1 gene (Connolly et al., 2012).
Molecular Function
This gene encodes a cytoplasmic protein that contains epidermal growth factor (EGF)-like repeats. The encoded heterotrimeric protein may be involved in cell growth regulation and differentiation.
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
A genome-wide association study of autism incorporating autism diagnostic interview-revised, autism diagnostic observation schedule, and social res...
ASD
Support
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
ASD
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
GEN440C001
intron_variant
rs1429793
c.688-13472G>T;c.433-13472G>T;c.604-13472G>T
Discovery cohort: 2165 participants from AGRE
Discovery
GEN440C002
intron_variant
rs1429793
c.688-13472G>T;c.433-13472G>T;c.604-13472G>T
Replication cohort: 1168 families from the Autism Genome Project (AGP)
Replication