Dataset - Delineation of functionally essential protein regions for 242 neurodevelopmental genes
Date Issued
2022
Abstract
Neurodevelopmental disorders (NDDs) are a heterogeneous group of conditions involving various forms of disruption to brain development. Over hundreds of genes have been found to be associated with NDDs thus far. However, NDDs are complex and mutations in NDD associated genes are not straightforward to conceptualize at the molecular level, for which three-dimensional (3D) structures of proteins provide an informative mean. Here, we present the ES-NDD a tool that provides access to the aggregation of >470 experimentally and computationally modeled 3D monomeric structures as well as multimeric protein complexes and their characterization using a consensus approach to identity Essential3D sites are conserved across human paralogs. With ES-NDD a user is able to interactively explore 14, 377 Essential3D sites, that are paralog conserved, population constraint and enriched for pathogenic variants in the 3D structures, in the context of 71,479 population variants aggregated from gnomAD, 7,463 pathogenic (likely-pathogenic) variants from ClinVar and HGMD as well as functional and domain annotations from Uniprot.