Fig. 4

Functional genomic distribution of differentially methylated CpG sites (DMCs) in patients with DUX4-IGH and ZNF384 rearrangements. a, b The enrichment and depletion of hypomethylated DMCs in blue and hypermethylated DMCs in red were determined in relation to CpG island context (island, shore, shelf, open sea), gene regions, and chromatin states in groups with a DUX4-IGH and b ZNF384 rearrangements. The bars show the difference in proportion of the CpG sites annotated to each functionally annotated region between the 450 k array and the DMCs. The colored bars represent the annotations to which the DMCs significantly differ compared with the distribution of probes on the 450 k array (Bonferroni-corrected two-sided Fisher’s exact P value < 0.01 and absolute difference in proportion > 10). c, d Overlap between differentially methylated genes (green) and differentially expressed genes (purple) in patients with c DUX4-IGH and d ZNF384 rearrangements. The overlapping genes with hypermethylated and hypomethylated DMCs and up- or downregulated gene expression are listed in the right panel