Identification of abundant and evolutionarily conserved post transcriptional exon shuffling events in human

Transcriptome data from 9 human paediatric tumour samples and one cell line (IMR32) was generated to screen for fusion genes, mutations, and RNAs with exon order which is rearranged relative to genomic structure (Post Transcriptional Exon Shuffling or PTES). A total of 228 putative rearranged transcripts were identified, of which approximately two thirds were subsequently validated experimentally and found to be present in a wide variety of normal human tissues. Thirteen putative fusion genes and one novel point mutation were also identified, all of which were found to be tumour specific or artefactual.