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. 2016 Sep 24;7(45):72733–72745. doi: 10.18632/oncotarget.12238

Figure 3. Novel mutations in epigenetic regulatory genes.

Figure 3

Schematic diagrams of DOT1L, CREBBP, and EP300 proteins showing positions of detected mutations in HD-ALL patients. Types of mutation (i.e. nonsynonymous, nonsense or splicing) are shown, along with color-coded functional domains as determined using the Protein Painter tool (http://explore.pediatriccancergenomeproject.org/proteinPainter). Bolded functional domains are ones affected by mutations. In DOT1L, nonsynonymous mutations cluster at the AdoMet catalytic domain. In CREBBP, nonsynonymous mutations cluster at the histone acetyltransferase (HAT) domain. Red dotted line boxes highlight novel mutations not previously reported in ALL.