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Schematic representation of NIPBL-NACC1 fusion. Gene loci of NIPBL and NACC1 are shown within chromosomes 5 and 19, respectively. RNA-seq revealed fusion transcripts consisting of exon 8 of NIPBL (chr 5p13.2; ENST00000282516) and exon 2 of NACC1 (chr 19p13.13; ENST00000292431). The number of discordant (split and spanning) reads supporting the breakpoint of Case 1 is shown above the curved red line. All fusion-supporting RNA-seq reads contained the identical fusion junction.
