Fig. 3: Example of a FGFR2 fusion where the fusion partner could not be identified by DNA sequencing.

a The identified translocation point localised in intron 17 of FGFR2 (NM_000141), shown in the IGV browser (30). The aligned soft-clipped sequences are part of an Alu repeat. b Upper part: Part of a BLAT result list (>100 results) of a representative split read from (a). Lower part: Expanded view of one of the results showing the split read sequence in reverse complement using the UCSC genome browser (31). It is part of a SINE repeat (AluSx family). c RNA-seq identifies the fusion partner as DBP (hgnc:2697). Displayed is the fusion junction in DBP with soft-clipped reads that align to FGFR2, shown in the IGV browser (30). Of note, the two marked bases belong to the FGFR2 part (exon17) of the fusion transcript, but as they can be aligned to either fusion partner they were displayed by the IGV browser as aligned to the last two bases of DBP intron 3. d The putative full-length transcript of the fusion; rendered with ARRIBA (32).