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Relevance to Autism

A de novo frameshift variant and two de novo missense variants have been observed in the ASB14 gene in ASD probands (Iossifov et al., 2014; Yuen et al., 2016; Yuen et al., 2017). TADA analysis of 4,504 ASD trios and 3,012 unaffected control/siblings trios from trio-based exome/genome sequencing studies identified ASB14 as an ASD candidate gene with a q-value < 0.1 (Du et al., 2019).

Molecular Function

The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and a SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
The contribution of de novo coding mutations to autism spectrum disorder.
ASD
Support
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder.
ASD
Support
Genome-wide characteristics of de novo mutations in autism.
ASD
Recent Recommendation
Nonrandom occurrence of multiple de novo coding variants in a proband indicates the existence of an oligogenic model in autism.
ASD

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN1109R001 
 missense_variant 
 c.815G>C 
 p.Gly272Ala 
 De novo 
 NA 
 Simplex 
 GEN1109R002 
 frameshift_variant 
 c.461_462del 
 p.Leu154ProfsTer7 
 De novo 
 NA 
 Simplex 
 GEN1109R003 
 missense_variant 
 c.1661C>T 
 p.Pro554Leu 
 De novo 
 NA 
 Multiplex 

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
3
Deletion-Duplication
 15
 
3
Deletion
 1
 

No Animal Model Data Available

No PIN Data Available
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