Fig. 1.

Cryptic NUP98-KDM5A and NUP98-BPTF fusion events in case 4 (left panels) and case 6 (right panels), respectively. a, e Partial karyograms of chromosomes 11, 12, and 17 and relevant cytogenetic findings. b, f Schematic representations of SVs in aforementioned chromosomes. Rearranged chromosomes, predicted from SVs and cytogenetics, are shown below. Arrows represent genes in 5′ to 3′ direction, alphabets represent genomic segments demarcated by case-specific breakpoints, apostrophes represent inverted segments, dashed lines represent SVs, and red dashed lines represent SVs leading to gene fusions. c, g Reverse transcription (RT)-PCR and Sanger sequencing of fusion transcripts. Arrows represent fused exons in 5′ to 3′ direction and letters below nucleotide codons represent corresponding amino acids. d, h Predicted fusion proteins and their domain structures adapted from UniProt. Arrows represent fused proteins and numbers represent amino acid positions