Extended Data Figure 2: Fusion genes involving PD-L1 and non-coding sequences identified in ATL.
From: Aberrant PD-L1 expression through 3′-UTR disruption in multiple cancers
a, ATL020 fused sequence: the sequences derived from PD-L1 exons 1–6 and INSL6 intron 1 are marked in yellow and green, respectively. The non-template sequence is marked in blue, and stop codon (UAG), poly-A signal (AAUAAA) and poly-A in red. The putative translated region is underlined. b, Genomic structure of the rearranged PD-L1 locus and transcription in two representative cases (ATL012 and ATL079) with 3′-UTR-truncated PD-L1 transcripts, in which PD-L1 ORF is terminated before exon 6 or 7, and merged into an intergenic sequence. Breakpoints (blue dotted lines) are shown with accompanying copy number alterations. c, Structure and breakpoint sequence of PD-L1 fusion transcripts (top) with Sanger sequencing chromatogram (bottom). d, Length of abnormal PD-L1 transcripts identified in ATL samples with PD-L1 SVs, compared with wild-type PD-L1. e, Genomic and transcript sequences from the PD-L1 locus containing 327 bp inversion within the last exon identified in case ATL017. Aberrant PD-L1 transcripts have a putative poly-A signal sequence in the inverted region, followed by poly-A tract.
