GLIS1
Homo sapiens
Gene Name: GLIS family zinc finger 1
Aliases:
Chromosome No: 1
Chromosome Band: 1p32.3
Genetic Category: Genetic association-Rare single gene variant
Aliases:
Chromosome No: 1
Chromosome Band: 1p32.3
Genetic Category: Genetic association-Rare single gene variant
Summary Statistics:
ASD Reports: 3
Recent Reports: 0
Annotated variants: 4
Associated CNVs: 3
Evidence score: 0
ASD Reports: 3
Recent Reports: 0
Annotated variants: 4
Associated CNVs: 3
Evidence score: 0
| Associated Disorders: |
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Relevance to Autism
Single-marker associations in the GLIS1 gene was identified in a fine-mapping case-control association study in the Taiwanese Han population (Kuo et al., 2015).
Molecular Function
GLIS1 is a GLI (MIM 165220)-related Kruppel-like zinc finger protein that functions as an activator and repressor of transcription.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Genome-Wide Association Study for Autism Spectrum Disorder in Taiwanese Han Population.
ASD
Support
Mutational Landscape of Autism Spectrum Disorder Brain Tissue
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
Common
Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
GEN781C001
intron_variant
rs12082358
c.-267+42953T>G
597 ASD cases, 1595 healthy controls (Taiwanese Han)
Discovery
GEN781C002
intron_variant
rs12080993
c.-267+21076C>A
597 ASD cases, 1595 healthy controls (Taiwanese Han)
Discovery