Intersection of novel and previously reported RNA editing sites from related data sets, and predicted structural perturbations in edited disease-related transcripts. (A) Intersection of RNA editing sites with sites detectable in other single neuron and bulk tissue data sets. (Left) Upset plot quantifying editing sites previously documented in the frontal cortex (BA9), whole brain, or non-CNS tissues in the REDIportal database. Sites detected in at least three of 116 neurons assayed from unrelated individuals (Darmanis et al.) are also displayed. (Right) Intersection of 9285 previously uncataloged, novel sites (subset of left panel), with sites detectable in at least three (gte3) or at least one (lt3) neurons assayed by Darmanis et al.; and their editing contexts (Alu, nonrepetitive or repetitive). Horizontal bars indicate set size, and vertical bars indicate the size of intersects displayed with linked black points in the matrix. (B) Location and probability of editing-induced RNA structure perturbation. Predicted effects on local RNA structure (y-axis) for editing sites (points) are displayed across the scaled genomic RNA coordinates (x-axis). The genes displayed contain at least three editing sites predicted to perturb local RNA structure, and are enriched for associations with autism spectrum disorder (left series) and epilepsy (right series). Only the editing sites with significant predicted structural effects are shown in color. Four genes implicated in both disorders are outlined in gray. Vertical bars below the x-axis indicate approximate exon locations, colored by relative gene length. (*) Genes with extremely low mutation tolerance.
