KIAA0232
Homo sapiens
Gene Name: KIAA0232
Aliases:
Chromosome No: 4
Chromosome Band: 4p16.1
Genetic Category: Rare single gene variant
Aliases:
Chromosome No: 4
Chromosome Band: 4p16.1
Genetic Category: Rare single gene variant
Summary Statistics:
ASD Reports: 4
Recent Reports: 1
Annotated variants: 5
Associated CNVs: 9
Evidence score: 3
ASD Reports: 4
Recent Reports: 1
Annotated variants: 5
Associated CNVs: 9
Evidence score: 3
| Associated Disorders: |
|
Relevance to Autism
Two de novo protein-truncating variants in the KIAA0232 gene were identified in ASD probands from the Simons Simplex Collection and the Autism Sequencing Consortium (Iossifov et al., 2014; Satterstrom et al., 2020). TADA analysis of de novo variants from the Simons Simplex Collection and the Autism Sequencing Consortium and protein-truncating variants from iPSYCH in Satterstrom et al., 2020 identified KIAA0232 as a candidate gene with a false discovery rate (FDR) between 0.01 and 0.05 (0.01 < FDR 0.05).
Molecular Function
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
Analysis of common genetic variation and rare CNVs in the Australian Autism Biobank
ASD
Recent recommendation
Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism
ASD
