HELP     Sign In
Search

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

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN955R001 
 stop_lost 
 c.527A>T 
 p.Ter176LeuextTer3 
 De novo 
 NA 
 Simplex 
 GEN955R002 
 stop_gained 
 c.82C>T 
 p.Arg28Ter 
 Familial 
  
  

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
15
Duplication
 66
  construct
15
Duplication
 1
 
15
Deletion-Duplication
 9
 

No Animal Model Data Available

No PIN Data Available
HELP
Copyright © 2017 MindSpec, Inc.