Fig. 3: Analysis of TERT expression in 78 Burkitt lymphoma (BL) tumors.

Total TERT expression analyzed as transcripts per million (TPM) in BL tumors (n = 78) (a) overall and in relation to the (b) rs10069690, (c) rs2242652, and (d) VNTR6-1 genotypes, with individual sample sizes for each group indicated in the figure. The group means are shown as red dots with values above the corresponding violin plots. Within each violin plot, the embedded box plots define the center line as the median, the whiskers as the minima and maxima, and the bounds as the 1st (25%) and 3rd (75%) quartiles of the distribution. e association of the VNTR6-1 and rs10069690 haplotypes with total TERT expression. The reference Short-C haplotype corresponds to the telomerase-encoding TERT-FL isoform, whereas the INS1 and TERT-β isoforms encode truncated proteins without telomerase activity. Effect alleles in haplotypes are marked in red; white boxes – exons; gray boxes – introns; black boxes – intron 4 retention; blue boxes – alternative exons 7 and 8; and red lollipops – stop codons. The direction of the TERT exons is from right to left, corresponding to the minus strand, as presented in the UCSC browser. “ATG” indicates translation start codons. P-values and β-values are for linear regression models adjusted for sex and age, which were assessed for robustness through permutation testing, with results provided in Supplementary Data 8. The details are provided in the Source Data file.