RALGAPBRal GTPase activating protein non-catalytic beta subunit
Autism Reports / Total Reports
2 / 3Rare Variants / Common Variants
9 / 0Aliases
RALGAPB, KIAA1219, RalGAPbetaAssociated Syndromes
-Genetic Category
Rare Single Gene MutationChromosome Band
20q11.23Associated Disorders
-Relevance to Autism
Two de novo frameshift variants and one de novo missense variant in the RALGAPB gene were identified in ASD probands in De Rubeis et al., 2014 and Guo et al., 2018. A de novo nonsense variant in this gene had previously been identified in a patient with epileptic encephalopathy (Epi4K Consortium 2013).
Molecular Function
Non-catalytic subunit of the heterodimeric RalGAP1 and RalGAP2 complexes which act as GTPase activators for the Ras-like small GTPases RALA and RALB.
Reports related to RALGAPB (3 Reports)
| # | Type | Title | Author, Year | Autism Report | Associated Disorders |
|---|---|---|---|---|---|
| 1 | Support | De novo mutations in epileptic encephalopathies. | Epi4K Consortium , et al. (2013) | No | - |
| 2 | Primary | Synaptic, transcriptional and chromatin genes disrupted in autism. | De Rubeis S , et al. (2014) | Yes | - |
| 3 | Recent Recommendation | Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model. | Guo H , et al. (2018) | Yes | - |
Rare Variants (9)
| Status | Allele Change | Residue Change | Variant Type | Inheritance Pattern | Parental Transmission | Family Type | PubMed ID | Author, Year |
|---|---|---|---|---|---|---|---|---|
| c.3423G>A | p.(=) | synonymous_variant | De novo | - | - | 25363760 | De Rubeis S , et al. (2014) | |
| c.974A>G | p.Tyr325Cys | missense_variant | De novo | - | Simplex | 30564305 | Guo H , et al. (2018) | |
| c.1927dupA | p.Asn643LysfsTer3 | frameshift_variant | De novo | - | - | 30564305 | Guo H , et al. (2018) | |
| c.3860C>G | p.Ser1287Ter | stop_gained | De novo | - | Simplex | 23934111 | Epi4K Consortium , et al. (2013) | |
| c.523G>A | p.Asp175Asn | missense_variant | Familial | Maternal | Simplex | 30564305 | Guo H , et al. (2018) | |
| c.1010G>A | p.Arg337His | missense_variant | Familial | Paternal | Simplex | 30564305 | Guo H , et al. (2018) | |
| c.2731G>A | p.Gly911Ser | missense_variant | Familial | Paternal | Simplex | 30564305 | Guo H , et al. (2018) | |
| c.865_866del2 | p.Met289ValfsTer3 | frameshift_variant | De novo | - | - | 25363760 | De Rubeis S , et al. (2014) | |
| c.4376G>A | p.Arg1459Gln | missense_variant | Unknown | Not paternal | Simplex | 30564305 | Guo H , et al. (2018) |
Common Variants
No common variants reported.
CNVs associated with RALGAPB(1 CNVs)
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| 20q11.23 | 7 | Deletion-Duplication | 13 / 58 |