Sashimi plot showing that the inversion in Family 3 leads to skipping of PTEN exons 68. Viewing settings are minimum ten reads, and only junctions in the forward direction are shown. There are 38 reads/read pairs that support the exon 59 junction, and this pattern is not seen in two other representative control RNA-seq datasets analyzed using an identical pipeline. Genome sequencing data for this proband are shown inFigure S22, and the inversion involves the same three exons. The HGVS annotation and predicted consequence of this change is therefore c.493_1026del (GenBank: NM_000314.8) (p.Gly165_Lys342del). In-frame skipping would not be expected to activate the NMD process and explains the normal OUTRIDER expression results seen for this gene in this individual.
