Fig. 2.

a Illustration of the PATZ1 fusion genes detected by RNA-seq for two selected cases; and corresponding copy number plots of Chromosome 22. The three involved genes MN1, EWSR1 and PATZ1 are marked. PATZ1-030 harbors an in-frame MN1:PATZ1 fusion, retaining an intronic pseudoexon (upper panel). PATZ1-053 demonstrates a variant fusion transcript juxtaposing Exon 12 of EWSR1 onto the usual partner 3′ sequence of PATZ1, in contrast to the more prevalent 5′ breakpoints observed in Exons 8 and 9 of EWSR1 (lower panel). b Schematic view of the loci of the genes involved in the fusions described (MN1, EWSR1, and PATZ1). Note the proximity of the three genes (all lie within approximately 4 Mbp). The dashed lines resemble the genomic breakpoints observed in the gene fusions. An intronic breakpoint observed in a subset of MN1_PATZ1 fusions introduces a novel pseudoexon (marked with x) whilst maintaining the reading frame. Isoforms illustrated: EWSR1 NM_005243; PATZ1 NM_0.13986.4; MN1 NM_002430.3