ASB11ankyrin repeat and SOCS box containing 11
Autism Reports / Total Reports
3 / 5Rare Variants / Common Variants
2 / 18Aliases
-Associated Syndromes
-Genetic Category
Rare Single Gene Mutation, Genetic Association, FunctionalChromosome Band
Xp22.2Associated Disorders
-Relevance to Autism
An X-chromosome-wide association (XWAS) study of 6,873 individuals with autism from MSSNG, SSC, and SPARK (5,639 males and 1,234 females) and 8,981 controls (3,911 males and 5,070 females) in Mendes et al., 2024 identified 18 SNPs in the ASB11 gene that reached the significance threshold for association (P < 7.9E-06) in a sex-stratified male-XWAS analysis. Furthermore, rare predicted damaging SNVs (<0.1% frequency in gnomAD) in the ASB11 gene were found to have a statistically significant (p < 0.05) higher frequency in ASD cases (females and both sexes combined) from MSSNG, SSC, and SPARK compared to other family members.
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 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. Previous studies in zebrafish, rat neuronal progenitor cells, and human pluripotent embryonic carcinoma cells have implicated ASB11 in the regulation in neurogenesis (Diks et al., 2006; Sartori da Silva et al., 2010).
External Links
SFARI Genomic Platforms
Reports related to ASB11 (5 Reports)
| # | Type | Title | Author, Year | Autism Report | Associated Disorders |
|---|---|---|---|---|---|
| 1 | Support | - | Sander H Diks et al. (2006) | No | - |
| 2 | Support | - | Maria A Sartori da Silva et al. (2010) | No | - |
| 3 | Support | The contribution of de novo coding mutations to autism spectrum disorder | Iossifov I et al. (2014) | Yes | - |
| 4 | Support | - | Paola Granata et al. (2024) | Yes | - |
| 5 | Primary | - | Marla Mendes et al. (2025) | Yes | - |
Rare Variants (2)
| Status | Allele Change | Residue Change | Variant Type | Inheritance Pattern | Parental Transmission | Family Type | PubMed ID | Author, Year |
|---|---|---|---|---|---|---|---|---|
| c.20A>G | p.Glu7Gly | missense_variant | De novo | - | Simplex | 25363768 | Iossifov I et al. (2014) | |
| c.295G>C | p.Val99Leu | missense_variant | Familial | Maternal | - | 39654053 | Paola Granata et al. (2024) |
Common Variants (18)
| Status | Allele Change | Residue Change | Variant Type | Inheritance Pattern | Paternal Transmission | Family Type | PubMed ID | Author, Year |
|---|---|---|---|---|---|---|---|---|
| c.520+1611G>T/c.520+1611G>C/c.520+1611G>A | - | intron_variant | - | - | - | 39706197 | Marla Mendes et al. (2025) | |
| c.847+722T>C | - | intron_variant | - | - | - | 39706197 | Marla Mendes et al. (2025) | |
| c.181+4443G>A | - | intron_variant | - | - | - | 39706197 | Marla Mendes et al. (2025) | |
| c.261+1823C>T | - | intron_variant | - | - | - | 39706197 | Marla Mendes et al. (2025) | |
| c.261+2485C>T | - | intron_variant | - | - | - | 39706197 | Marla Mendes et al. (2025) | |
| c.370-1291G>A | - | intron_variant | - | - | - | 39706197 | Marla Mendes et al. (2025) | |
| c.848-2014C>T | - | intron_variant | - | - | - | 39706197 | Marla Mendes et al. (2025) | |
| c.370-1566GA[3] | - | intron_variant | - | - | - | 39706197 | Marla Mendes et al. (2025) | |
| c.655+63A>T/c.655+63A>G | - | intron_variant | - | - | - | 39706197 | Marla Mendes et al. (2025) | |
| c.369+918G>C/c.369+918G>A | - | intron_variant | - | - | - | 39706197 | Marla Mendes et al. (2025) | |
| c.370-698C>T/c.370-698C>A | - | intron_variant | - | - | - | 39706197 | Marla Mendes et al. (2025) | |
| c.655+135C>T/c.655+135C>G | - | intron_variant | - | - | - | 39706197 | Marla Mendes et al. (2025) | |
| c.847+478G>T/c.847+478G>A | - | intron_variant | - | - | - | 39706197 | Marla Mendes et al. (2025) | |
| c.848-215G>T/c.848-215G>A | - | intron_variant | - | - | - | 39706197 | Marla Mendes et al. (2025) | |
| c.182-4641G>C/c.182-4641G>A | - | intron_variant | - | - | - | 39706197 | Marla Mendes et al. (2025) | |
| c.261+1514A>G/c.261+1514A>C | - | intron_variant | - | - | - | 39706197 | Marla Mendes et al. (2025) | |
| c.370-1067C>T/c.370-1067C>G | - | intron_variant | - | - | - | 39706197 | Marla Mendes et al. (2025) | |
| c.520+1406G>T/c.520+1406G>A | - | intron_variant | - | - | - | 39706197 | Marla Mendes et al. (2025) |