ARHGAP30Rho GTPase activating protein 30
Autism Reports / Total Reports
3 / 3Rare Variants / Common Variants
4 / 0Aliases
-Associated Syndromes
-Chromosome Band
1q23.3Associated Disorders
-Relevance to Autism
Chen et al., 2025 integrated cortex cell-specific cis-regulatory element annotations, a deep learning-based variant prediction model, and massively parallel reporter assays to systematically evaluate the functional impact of 227,878 non-coding de novo mutations (ncDNMs) in ASD probands from Simons Simplex Collection (SSC) and Autism Speaks MSSNG resource (MSSNG) cohorts and identified a ncDNM that down-regulated expression of the ARHGAP30 gene in a SSC proband. A de novo loss-of-function variant, a de novo missense variant, and a de novo in-frame deletion variant have also been identified in the ARHGAP30 gene in ASD probands (Iossifov et al., 2014; Zhou et al., 2022).
Molecular Function
Enables GTPase activator activity. Involved in negative regulation of Rho protein signal transduction. Located in intracellular membrane-bounded organelle.
SFARI Genomic Platforms
Reports related to ARHGAP30 (3 Reports)
| # | Type | Title | Author, Year | Autism Report | Associated Disorders |
|---|---|---|---|---|---|
| 1 | Support | The contribution of de novo coding mutations to autism spectrum disorder | Iossifov I et al. (2014) | Yes | - |
| 2 | Support | - | Zhou X et al. (2022) | Yes | - |
| 3 | Primary | - | Congcong Chen et al. () | Yes | - |
Rare Variants (4)
| Status | Allele Change | Residue Change | Variant Type | Inheritance Pattern | Parental Transmission | Family Type | PubMed ID | Author, Year |
|---|---|---|---|---|---|---|---|---|
| G>A | - | intergenic_variant | De novo | - | Simplex | 40738258 | Congcong Chen et al. () | |
| c.1295C>T | p.Pro432Leu | missense_variant | De novo | - | Simplex | 35982159 | Zhou X et al. (2022) | |
| c.3049C>T | p.Arg1017Ter | stop_gained | De novo | - | Simplex | 25363768 | Iossifov I et al. (2014) | |
| c.613_615del | p.Glu205del | inframe_deletion | De novo | - | Simplex | 25363768 | Iossifov I et al. (2014) |
Common Variants
No common variants reported.