Human Gene Module / Chromosome 20 / RALGAPB

RALGAPBRal GTPase activating protein non-catalytic beta subunit

Score
3
Suggestive Evidence Criteria 3.1
Autism Reports / Total Reports
2 / 3
Rare Variants / Common Variants
9 / 0
Aliases
RALGAPB, KIAA1219,  RalGAPbeta
Associated Syndromes
-
Genetic Category
Rare Single Gene Mutation
Chromosome Band
20q11.23
Associated 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)
20q11.23 7 Deletion-Duplication 13  /  58
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