DNER
Homo sapiens
Gene Name: Delta/notch-like EGF repeat containing
Aliases: UNQ262/PRO299, UNQ26, bet
Chromosome No: 2
Chromosome Band: 2q36.3
Genetic Category: Genetic association-Rare single gene variant
Aliases: UNQ262/PRO299, UNQ26, bet
Chromosome No: 2
Chromosome Band: 2q36.3
Genetic Category: Genetic association-Rare single gene variant
Summary Statistics:
ASD Reports: 3
Recent Reports: 0
Annotated variants: 4
Associated CNVs: 7
Evidence score: 2
ASD Reports: 3
Recent Reports: 0
Annotated variants: 4
Associated CNVs: 7
Evidence score: 2
| Associated Disorders: |
|
Relevance to Autism
A SNP within the DNER gene showed association in the secondary analyses in a combined AGP GWA sample (Anney et al., 2012).
Molecular Function
Activator of the NOTCH1 pathway. May mediate neuron-glia interaction during astrocytogenesis
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Individual common variants exert weak effects on the risk for autism spectrum disorderspi.
ASD
Support
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
ASD
Support
Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes
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
GEN395C001
intron_variant
rs6752370
c.276+60631T>C
Autism Genome Project (AGP)
Combined (Stages 1 and 2)