Figure 1
From: TERT promoter mutations and monoallelic activation of TERT in cancer
Identification of cancer cell lines with monoallelic TERT expression. (a) Fraction of sequencing reads harboring nucleotide that differs from reference human genome for heterozygous anchor SNPs. DNA and RNA alternate allelic fractions are plotted along the x axis and y axis, respectively. Analysis was performed on 88 cell lines with a DNA alternate allelic fraction between 0.25 and 0.75 in the DNA sequences of expressed exonic and untranslated regions of the TERT gene. Strong deviation from the diagonal indicates allelic bias in expression. Individual points represent samples, and those harboring hotspot promoter mutations are highlighted. Nineteen cell lines harbored one of the hotspot promoter mutations C228T, C228A or C250T and were found within the 88 cell lines that met the criteria for assessment of allelic bias. (b) Bar plot of promoter mutation status in cell lines with monoallelic and biallelic expression of the TERT gene. TERT expression was classified as monoallelic in samples with heterozygous anchor SNPs in the TERT gene for which expression of a major allele was >10-fold higher than expression of the minor allele in RNA versus DNA.
