Fig. 4

Gene ontology (GO) enrichment analysis of the probands with a missense variant Ser775Tyr in DNMT3A. A Dot plot illustrating GO enrichment analysis results for overexpressed genes in individuals with a DNMT3A missense variant. The fold enrichment on the x-axis quantifies the relative overrepresentation of these terms in the context of the total genome. The color of the dots indicates the statistical significance after adjustment. B Dot plot illustrating GO enrichment analysis results for genes that are underrepresented in the gene set from individuals with a DNMT3A missense variant. The x-axis shows the fold enrichment value, contrasting the proportion of specific GO terms in the dataset against their distribution in the reference genome. Dot color signifies the adjusted level of statistical significance