Fig. 1

RAI1 Molecular interactions. a Literature-defined molecular interactions. Genes interactions network obtained combining literature text-mining resources (i.e. PubMed, Google Scholar, iHOP, and EVEX) and visualized using Cytoscape. Nodes are colored depending on the role of the gene: genes associated with SMS phenotypes in red (RAI1 is highlighted with a thicker outline); RAI1 interactors identified in yeast two-hybrid screens in dark blue; genes with rare possibly damaging variants in SMS patients identified in this report in light blue; “extra nodes” required to make connection are shown as white squares (maximum two “extra nodes” allowed), while “extra nodes” found in the 4C BRICKs of the RAI1 viewpoint are depicted in green. b Co-expression-based molecular interactions. Tissue-specific functional interaction network built using GIANT (Genome-scale Integrated Analysis of gene Networks in Tissues, http://giant.princeton.edu/) in “all tissues” (top panel) versus “neuron” (bottom panel), with minimum relationship confidence = 0.5 and maximum number of genes = 15. RAI1, HDAC4, PITX3, MBD5, BRD2, MIZ1/ZBTB17, CASK, KMT2D, MECP2, GLDC, KDM5C, MAP2K2, POGZ, and ZEB2 were used as queries