Figure 4
From: Transcriptomic variation of pharmacogenes in multiple human tissues and lymphoblastoid cell lines
(a) Splice events in Pharmacogenomics Research Network pharmacogenes with PSI (percent spliced in) ⩾5 and coverage ⩾1 reads/100 bp in at least one sample of one tissue and no coverage in any of the four other tissues. (b) Splice events in pharmacogenes not present in current gene annotations with coverage ⩾5 reads/100 bp in at least one sample. These splice events were identified in 68, 31, 18, 16, and 10 pharmacogenes in liver, kidney, heart, adipose tissue and lymphoblastoid cell lines (LCLs), respectively. (c) An alternative last exon in SLC22A7, not previously annotated, was observed in liver samples and would alter the C-terminal end of the protein. Chart: fraction of transcripts from SLC22A7 that contain the novel (white) or known (black) splice event in each liver sample. Inset: reads crossing the alternative junctions in a liver sample. (d) A novel alternative 3’ splice site in SCN5A was identified that results in an 83-base deletion of the coding sequence of SCN5A, creating a premature stop codon expected to trigger nonsense-mediated mRNA decay. Chart: fraction of transcripts from SCN5A that contain the novel (white) or known (black) splice event in each heart sample.
