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. Author manuscript; available in PMC: 2015 Sep 15.
Published in final edited form as: Clin Cancer Res. 2014 Sep 15;20(18):4935–4948. doi: 10.1158/1078-0432.CCR-14-0330

Figure 3. TERT promoter variants in BC.

Figure 3

A, The proximal TERT locus in the UCSC Genome Browser with HG19 genomic coordinates (Hg19), TERT isoforms (TERT transcripts), TFBS from ENCODE ChIP-seq, the amplicon location (Amplicon BLAT), and a CpG-rich region (CpG Island, green). B, The TERT promoter amplicon (5′, top left, to 3′, bottom right) with germline variants (above) and somatic variants (below) the genomic reference sequence (solid line). Variant annotation is based on the TERT coding strand (not shown). Frequencies of variants (n=54, in parentheses), novel variants (asterisk), and variants in new TFBS (blue, details in Fig. 3C) are indicated. C, TFBS in the TERT promoter (bold horizontal line, center) are shown relative to the transcription start site (TSS) and the protein-coding start codon (ATG): ◆, Sp1; ○, E-box; and ✶, Ets TFBS. New TFBS created by novel (blue) and previously identified variants (red) are shown in enlarged regions.