Figure 3. Hypomethylation in DNMT3A mutated patients. Patients were separated according to DNMT3A mutational status and, in total, 5074 DNM3A-DMC were defined by FDR < 0.05 and |∆β| > 0.17. (A) Volcano plot shows methylation differences of DMC between DNMT3A mutated vs. wild type CN-AML cases (DNMT3A-DMC; FDR < 0.05, |∆β| > 0.17). DMCs are marked with red circles. X-axis shows the FDR odd ratios (-log10 FDR) and Y-axis shows the average difference between mutated and wild type cells. (B) Heatmap of DNMT3A-DMC. The mutational status is color-coded in the column index, mutated is shown in red and wild type is shown in blue. The CpG regions of DNMT3A-DMC are presented in rows (CGI in red, shores in yellow, shelves in green and open sea in blue). (C) Hypomethylation of HOXA5 and PAX7 in DNMT3A mutated CN-AML. DNMT3A-DMC of HOXA5 and PAX7 are shown in the diagram. Methylation levels are plotted according to chromosomal positions (β-value, scale 0 to 1.0). Patients are color-coded according to DNMT3A mutational status (mutated in red and wild type in blue). Schematic graphs and annotated CpG islands (CGIs in light blue) were obtained from USCS Genome browser.