Fig. 5

Examples of de novo ASM associated with somatic mutations in cancers. a Map of the de novo ASM region tagged by a somatic mutation at chr2:128663542 in case SUB006. The mutation is intergenic between AMMECR1L and SAP130. It overlaps a poised chromatin region and creates a de novo binding motif for the MAF TF, with a higher binding affinity on the mutated allele than on the reference (germline) allele. The graphical representation of the WGBS data shows strong ASM with less methylation on the mutated allele. The reference allele shows similar methylation (high) in both the myeloma and paired B cells. b Map of the de novo ASM region tagged by the somatic mutation at chr11:12692969, also in case SUB006. The mutation is intergenic downstream of PARVA and upstream of TEAD1. It overlaps an active enhancer chromatin region and creates a de novo binding motif for HOXA4 with a higher binding affinity on the mutated allele than on the reference (germline) allele. The graphical representation of the WGBS data shows strong ASM with lower methylation on the mutated allele. The reference allele showed a similar methylation (high) in both the myeloma and paired B cells. For these two motifs, the occurrences map to the negative strand and are oriented 3′ to 5′ per atSNP convention