Fig. 2

Impact of chromothripsis on expression of genes in proximity to rearrangements. Circos plot showing the regions affected by chromothripsis on patient chromosomes 1, 3, 7, and 12. The lines in the center of the plot visualize the 17 breakpoint junctions in the patient genome. In total, 67 genes, listed in the outer ring, are located on or within 1 Mb of the rearrangements. Exons are depicted as black bars beneath the chromosome ideograms. The inside, center, and outside bar graphs show the log2 fold expression differences (ranging from 2 to −2) between the patient and the parents in the iPSC-derived neural progenitors, the iPSCs, and the blood cells, respectively. Log2 fold expression differences of at least 1 between the patient and the parents are highlighted with blue (higher expression in patient) and red (lower expression in patient) bars. Grey bars indicate no or small (less than 1 log2 fold) expression differences between the patient and the parent. No bars are shown for genes with less than ten normalized read counts