Fig. 4: Recurrent cell-type-specific non-coding mutations in AML. | Communications Biology

Fig. 4: Recurrent cell-type-specific non-coding mutations in AML.

From: Discovery of candidate functional non-coding mutations in acute myeloid leukemia using single-cell chromatin accessibility sequencing

Fig. 4: Recurrent cell-type-specific non-coding mutations in AML.

a Heatmap shows the 52 recurrent non-coding mutation profiles across patients (ranked by the number of patients with individual mutation). The nearest neighbor genes, annotation (E, enhancer; P, promoter), and chromosome coordinate for each mutation are shown on the left of the heatmap. The cumulative numbers of mutations for each sample are shown at the top of the heatmap. b The enrichment of mutations across various cell types. The dot size represents the number of mutated cells, the outer circle represents the enrichment significance using the hypergeometric test. c–f The distribution of raw mutated cells (left) and imputed mutated cells (right) with mutations highlighted in (a), chr17:8156823:C:A (PER1, enhancer) (c), chr8:38030499:C:G (EIF4EBP1, promoter) (d), chr16:74666845:G:C (RFWD3, promoter) (e), and chr20:62832771:G:A (DPH3P1, enhancer) (f).

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