Aliases:
Chromosome No: 3
Chromosome Band: 3p14.3
Genetic Category: Rare single gene variant-
ASD Reports: 5
Recent Reports: 1
Annotated variants: 5
Associated CNVs: 2
Evidence score: 2
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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
