KIAA0232KIAA0232
Autism Reports / Total Reports
4 / 4Rare Variants / Common Variants
5 / 0Aliases
-Associated Syndromes
-Chromosome Band
4p16.1Associated 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
SFARI Genomic Platforms
Reports related to KIAA0232 (4 Reports)
# | Type | Title | Author, Year | Autism Report | Associated Disorders |
---|---|---|---|---|---|
1 | Primary | The contribution of de novo coding mutations to autism spectrum disorder | Iossifov I et al. (2014) | Yes | - |
2 | Recent recommendation | Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism | Satterstrom FK et al. (2020) | Yes | - |
3 | Support | - | Yap CX et al. (2021) | Yes | - |
4 | Support | - | Zhou X et al. (2022) | Yes | - |
Rare Variants (5)
Status | Allele Change | Residue Change | Variant Type | Inheritance Pattern | Parental Transmission | Family Type | PubMed ID | Author, Year |
---|---|---|---|---|---|---|---|---|
- | - | copy_number_gain | Unknown | - | - | 33568206 | Yap CX et al. (2021) | |
c.3569C>T | p.Thr1190Ile | missense_variant | De novo | - | - | 35982159 | Zhou X et al. (2022) | |
c.861G>A | p.Ser287%3D | synonymous_variant | De novo | - | - | 35982159 | Zhou X et al. (2022) | |
c.352C>T | p.Arg118Ter | stop_gained | De novo | - | Simplex | 25363768 | Iossifov I et al. (2014) | |
c.3744del | p.Gly1249ValfsTer23 | frameshift_variant | De novo | - | Simplex | 31981491 | Satterstrom FK et al. (2020) |
Common Variants
No common variants reported.
SFARI Gene score
High Confidence
Score Delta: Score remained at 1
criteria met
See SFARI Gene'scoring criteriaWe considered a rigorous statistical comparison between cases and controls, yielding genome-wide statistical significance, with independent replication, to be the strongest possible evidence for a gene. These criteria were relaxed slightly for category 2.
4/1/2022
Increased from to 1
Krishnan Probability Score
Score 0.54438965663409
Ranking 1416/25841 scored genes
[Show Scoring Methodology]
ExAC Score
Score 0.99472089633487
Ranking 1539/18225 scored genes
[Show Scoring Methodology]
Sanders TADA Score
Score 0.62808133738603
Ranking 808/18665 scored genes
[Show Scoring Methodology]
Zhang D Score
Score 0.58280146195537
Ranking 133/20870 scored genes
[Show Scoring Methodology]