Fig. 3: Comparison of transcriptional signatures between patients with DNMT3A^mut and DNMT3A^wt.

A Unsupervised hierarchical clustering of patients with DNMT3A^mut and DNMT3A^wt patients, with the major upregulated and downregulated DEGs displayed. Colors represent normalized gene expression values. B Volcano plot comparison of all RNA-seq genes between patients with DNMT3A^mut and DNMT3A^wt. Positive (logFC > 0) and negative (logFC < 0) fold changes indicate upregulated and downregulated genes, respectively, in patients with DNMT3A^mut. C, D Bubble plots illustrating a comparison of enriched and depleted MSigDB CGP and Hallmark gene sets between patients with DNMT3A^mut and DNMT3A^wt. Bubble size represents gene counts, and colors indicate statistical significance. E Gene Set Enrichment Analysis plots displaying overrepresentation of immune gene set signatures within the DNMT3A^mut transcriptome. F Venn diagram of DEGs identified in initial and updated comparisons between patients with DNMT3A^mut and DNMT3A^wt. An initial analysis included RNA-seq data from 80 patients with DNMT3A^mut and 184 with DNMT3A^wt and normal karyotypes. In an updated analysis, a subset of 63 DNMT3A^mut patients with normal karyotypes were compared with the original 184 patients with DNMT3A^wt.