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Relevance to Autism

Targeted sequencing of a cohort of 536 Chinese ASD probands and 1457 Chinese controls in Guo et al., 2017 identified three inherited loss-of-function variants and one damaging missense variant in the KCNK7 gene in ASD probands. Transmission and De Novo Association (TADA) analysis of this cohort of Chinese ASD cases and controls in Guo et al., 2017 identified the KCNK7 gene as an ASD candidate gene with a PTADA between 0.001 and 0.005 (0.008245); however, PTADA for this gene failed to reach significance (P < 0.01) following TADA analysis using a combined cohort of Chinese ASD probands and controls, as well as ASD probands and controls from the Simons Simplex Collection and the Autism Sequencing Consortium.

Molecular Function

This gene encodes a member of the superfamily of potassium channel proteins containing two pore-forming P domains. The product of this gene has not been shown to be a functional channel; however, it may require other non-pore-forming proteins for activity.

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References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Targeted sequencing and functional analysis reveal brain-size-related genes and their networks in autism spectrum disorders.
ASD
Support
Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
ASD

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN967R001 
 stop_gained 
 c.748G>T 
 p.Gly250Ter 
 Familial 
  
  
 GEN967R002 
 stop_gained 
 c.748G>T 
 p.Gly250Ter 
 Familial 
  
  
 GEN967R003 
 frameshift_variant 
 c.176delC 
 p.Pro59fs 
 Familial 
  
  
 GEN967R004 
 missense_variant 
 c.313A>G 
 p.Thr105Ala 
 Familial 
  
  
 GEN967R005 
 stop_gained 
 G>A 
  
 Familial 
 Paternal 
 Multiplex (monozygotic twins) 

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
11
Deletion
 11
 

No Animal Model Data Available

No PIN Data Available
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