Figure 7.
Summary of kataegis regions identified through analysis of promotor/enhancer regions. (A) Total kataegis per sample, where Kataegis were independently derived per sample. (B) Number of samples with mutations within the kataegis region when considering the pooled Kataegis in either the CLL or RS phase data. (C) Genes linked to Kataegis regions by proximity (promotors) or TAD data (enhancers). The remaining genes are divided into Ig-1:Ig-6 for immunoglobulin genes and E1:E22 for unknown enhancers. The corresponding number of samples mutated in each Kataegis are listed. An asterisk (*) indicates that >20% of mutations were at AID sites (see supplemental Methods). (D) Patient-specific regulation of gene expression in 5 of the genes in panel C in 8 patients for which we had RNA expression data. A red/blue triangle indicates upregulation/downregulation in the RS phase, when compared with CLL. No triangle means equivalent expression between the 2 phases.