Human Gene Module / Chromosome 17 / PPP1R9B

PPP1R9Bprotein phosphatase 1 regulatory subunit 9B

Score
1
High Confidence Criteria 1.1
Autism Reports / Total Reports
1 / 1
Rare Variants / Common Variants
3 / 0
Aliases
PPP1R9B, PPP1R6,  PPP1R9,  SPINO,  Spn
Associated Syndromes
-
Genetic Category
Rare Single Gene Mutation
Chromosome Band
17q21.33
Associated Disorders
-
Relevance to Autism

Three de novo missense variants, including two that were predicted to be damaging (defined as MPC 2), were identified in the PPP1R9B gene in ASD probands from the Autism Sequencing Consortium (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 PPP1R9B as a candidate gene with a false discovery rate (FDR) between 0.05 and 0.1 (0.05 < FDR 0.1).

Molecular Function

This gene encodes a scaffold protein that functions as a regulatory subunit of protein phosphatase 1a. Expression of this gene is particularly high in dendritic spines, suggesting that the encoded protein may play a role in receiving signals from the central nervous system.

Reports related to PPP1R9B (1 Reports)
# Type Title Author, Year Autism Report Associated Disorders
1 Primary Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism Satterstrom FK et al. (2020) Yes -
Rare Variants   (3)
Status Allele Change Residue Change Variant Type Inheritance Pattern Parental Transmission Family Type PubMed ID Author, Year
c.1800G>A p.Arg600= missense_variant De novo NA Simplex 31981491 Satterstrom FK et al. (2020)
c.2107T>G p.Trp703Gly missense_variant De novo NA Simplex 31981491 Satterstrom FK et al. (2020)
c.2254G>A p.Ala752Thr missense_variant De novo NA Simplex 31981491 Satterstrom FK et al. (2020)
Common Variants  

No common variants reported.

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SFARI Gene Update

We are pleased to announce some changes to the ongoing curation of the data in SFARI Gene. In the context of a continued effort to develop the human gene module and its manually curated list of autism risk genes, we are modifying other aspects of the site to focus on the information that is of greatest interest to the research community. The version of SFARI Gene that has been developed until now will be frozen and will remain available as “SFARI Gene Archive”. Please see the announcement for more details.
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