RASSF5
Homo sapiens
Gene Name: Ras association domain family member 5
Aliases: Maxp1, NORE1, NORE1A, NORE1B, RAPL, RASSF3
Chromosome No: 1
Chromosome Band: 1q32.1
Genetic Category: Genetic association-Rare single gene variant
Aliases: Maxp1, NORE1, NORE1A, NORE1B, RAPL, RASSF3
Chromosome No: 1
Chromosome Band: 1q32.1
Genetic Category: Genetic association-Rare single gene variant
Summary Statistics:
ASD Reports: 4
Recent Reports: 0
Annotated variants: 4
Associated CNVs: 4
Evidence score: 2
ASD Reports: 4
Recent Reports: 0
Annotated variants: 4
Associated CNVs: 4
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
A SNP within the RASSF5 gene showed association in the secondary analyses in a combined AGP GWA sample (Anney et al., 2012).
Molecular Function
This gene is a member of the Ras association domain family. It functions as a tumor suppressor, and is inactivated in a variety of cancers. The encoded protein localizes to centrosomes and microtubules, and associates with the GTP-activated forms of Ras, Rap1, and several other Ras-like small GTPases. The protein regulates lymphocyte adhesion and suppresses cell growth in response to activated Rap1 or Ras.
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
Mutational Landscape of Autism Spectrum Disorder Brain Tissue
ASD
Support
Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
ASD
Support
Large-scale discovery of novel genetic causes of developmental disorders.
Unknown diagnosis
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN394R001
synonymous_variant
c.1239C>A
p.Ser413=
De novo
Unknown
Common
Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
GEN394C001
intron_variant
rs11118968
c.458-13252G>A;c.458-13256G>A
Autism Genome Project (AGP)
Combined (Stages 1 and 2)
