Fig. 3

Significant regulatory elements associated with PAX5. a Genomic context of PAX5 with protein-coding genes (blue), non-coding genes (brown), significant regulatory elements, PhyloP conservation, and SNVs. b The element RAD21 TFBS peak (Supplementary Table 2) overlaps an enhancer with known mutational recurrence and effect on PAX5 expression.12 Mutations (triangles) are annotated with nucleotide change (from/to), cancer type (abbreviation and color), and sample number (s1–k). The relative significance contribution from each of the three mutational distribution tests shown as in Fig. 2a (the same applies to the other case illustrations). c Regulatory elements in the first intron of PAX5. Both enhancer and CTCF peaks are individually significant with contributions from the conservation tests