VASH1
Homo sapiens
Gene Name: vasohibin 1
Aliases: KIAA1036
Chromosome No: 14
Chromosome Band: 14q24.3
Genetic Category: Genetic Association-Rare single gene variant
Aliases: KIAA1036
Chromosome No: 14
Chromosome Band: 14q24.3
Genetic Category: Genetic Association-Rare single gene variant
Summary Statistics:
ASD Reports: 5
Recent Reports: 2
Annotated variants: 3
Associated CNVs: 3
Evidence score: 0
ASD Reports: 5
Recent Reports: 2
Annotated variants: 3
Associated CNVs: 3
Evidence score: 0
| Associated Disorders: |
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Relevance to Autism
Genetic association has been found between the VASH1 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
This protein is an angiogenesis inhibitor. It inhibits migration, proliferation and network formation by endothelial cells as well as angiogenesis.
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
Support
Deleterious coding variation associated with autism is shared across ancestries.
ASD
Recent Recommendation
Distinctive localization and opposed roles of vasohibin-1 and vasohibin-2 in the regulation of angiogenesis.
Recent Recommendation
Induction and expression of anti-angiogenic vasohibins in the hematopoietic stem/progenitor cell population.
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN263R001
missense_variant
c.316A>C
p.Ile106Leu
De novo
Simplex
Common
Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
GEN263C002
intergenic_variant
rs17783432
Discovery cohort: 2165 participants from AGRE
Discovery
