C15orf62
Homo sapiens
Gene Name: chromosome 15 open reading frame 62
Aliases:
Chromosome No: 15
Chromosome Band: 15q15.1
Genetic Category: Rare single gene variant
Aliases:
Chromosome No: 15
Chromosome Band: 15q15.1
Genetic Category: Rare single gene variant
Summary Statistics:
ASD Reports: 3
Recent Reports: 1
Annotated variants: 3
Associated CNVs: 3
Evidence score: 2
ASD Reports: 3
Recent Reports: 1
Annotated variants: 3
Associated CNVs: 3
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
A de novo stop-loss variant in the C15orf62 gene was identified in an ASD proband from the Simons Simplex Collection in O'Roak et al., 2012. Targeted sequencing of 536 Chinese ASD probands and 1457 Chinese controls in Guo et al., 2017 detected a rare inherited loss-of-function variant in this gene in a Chinese ASD proband. Transmission and De Novo Association (TADA) analysis of a combined cohort consisting of Chinese ASD cases and controls, as well as ASD probands and controls from the Simons Simplex Collection and the Autism Sequencing Consortium, in Guo et al., 2017 identified C15orf62 as an ASD candidate gene with a PTADA of 0.003927.
Molecular Function
This gene encodes for a protein of unknown function.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.
ASD
Recent Recommendation
Targeted sequencing and functional analysis reveal brain-size-related genes and their networks in autism spectrum disorders.
ASD
