FAM135B
Homo sapiens
Gene Name: family with sequence similarity 135 member B
Aliases: C8ORFK32
Chromosome No: 8
Chromosome Band: 8q24.23
Genetic Category: Genetic association-Rare single gene variant
Aliases: C8ORFK32
Chromosome No: 8
Chromosome Band: 8q24.23
Genetic Category: Genetic association-Rare single gene variant
Summary Statistics:
ASD Reports: 3
Recent Reports: 0
Annotated variants: 7
Associated CNVs: 8
Evidence score: 2
ASD Reports: 3
Recent Reports: 0
Annotated variants: 7
Associated CNVs: 8
Evidence score: 2
| 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 58 ("concentrates too much on things rather than seeing the whole picture") on the Social Responsiveness Scale (SRS) is significantly associated with the FAM135B gene (Connolly et al., 2012).
Molecular Function
Little is known about the potential function of this gene, other than it is a member of the FAM135 family.
External Links
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
GEN428C001
intron_variant
rs2056412
c.-19-33088A>G;c.-20+24346A>G
Discovery cohort: 2165 participants from AGRE
Discovery
GEN428C002
intron_variant
rs2056412
c.-19-33088A>G;c.-20+24346A>G
Replication cohort: 1168 families from the Autism Genome Project (AGP)
Replication