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. Author manuscript; available in PMC: 2022 Jan 11.
Published in final edited form as: Cancer Cell. 2021 Jan 11;39(1):83–95.e4. doi: 10.1016/j.ccell.2020.12.011

Figure 3: Sample View of interchromsomal rearrangement leading to MYC dysregulation by enhancer hijacking.

Figure 3:

(A) Inter-chromosomal translocations in various pediatric primary tumors and cell lines in the 1 Mb region spanning MYC (orange vertical highlight) in the Cohort View. Circles of different colors represent different inter-chromosomal translocations including three neuroblastoma (NBL) cell lines previously reported to show MYC overexpression (e.g. t(4;8) in both NB69 and SKNAS, t(7;8) in SH-SY5Y), as well as three previously unpublished cases (e.g. t(8;9) in PASFIC, t(8; 10) in SJHGG001_A, and t(2;8) in SJBALL247_D). Variant frequency is based on 204, 76, 545 samples analyzed by WGS in NBL, HGG, and B-ALL, respectively. The right panel shows MYC expression rank (bar width) and ASE (bar colors) in each respective tumor.

(B) Sample View of in situ Hi-C data of NBL cell line NB69 shows extensive chromatin interaction between MYC and chromosome 4 along the axis of t(4;8) translocation detected by WGS (oval). The chromosome 4 region also shows strong H3K27ac signal (box), indicating MYC-regulating enhancers. Live link: https://proteinpaint.stjude.org/gp/myc.sv.nb69.html