GNAI1G protein subunit alpha i1
Autism Reports / Total Reports3 / 3
Rare Variants / Common Variants2 / 0
Genetic CategoryRare Single Gene Mutation
Relevance to Autism
Two de novo missense variants that were predicted to be probably damaging (defined as MPC 2) were identified in the GNAI1 gene in ASD probands from the Simons Simplex Collection and the Autism Sequencing Consortium (De Rubeis et al., 2014; Iossifov et al., 2014), while a protein-truncating variant in this gene was observed in a case sample from the Danish iPSYCH study (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 GNAI1 as a candidate gene with a false discovery rate (FDR) between 0.01 and 0.05 (0.01 < FDR 0.05).
Guanine nucleotide binding proteins are heterotrimeric signal-transducing molecules consisting of alpha, beta, and gamma subunits. The alpha subunit binds guanine nucleotide, can hydrolyze GTP, and can interact with other proteins. The protein encoded by this gene represents the alpha subunit of an inhibitory complex. The encoded protein is part of a complex that responds to beta-adrenergic signals by inhibiting adenylate cyclase.
Reports related to GNAI1 (3 Reports)
|#||Type||Title||Author, Year||Autism Report||Associated Disorders|
|1||Primary||Synaptic, transcriptional and chromatin genes disrupted in autism.||De Rubeis S , et al. (2014)||Yes||-|
|2||Support||The contribution of de novo coding mutations to autism spectrum disorder.||Iossifov I , et al. (2014)||Yes||-|
|3||Recent recommendation||Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism.||Satterstrom FK , et al. (2020)||Yes||-|
Rare Variants (2)
|Status||Allele Change||Residue Change||Variant Type||Inheritance Pattern||Parental Transmission||Family Type||PubMed ID||Author, Year|
|c.611A>G||p.Gln204Arg||missense_variant||De novo||NA||Simplex||25363768||Iossifov I , et al. (2014)|
|c.956T>C||p.Ile319Thr||missense_variant||De novo||NA||Simplex||25363760||De Rubeis S , et al. (2014)|
No common variants reported.