Fig. 2

Genetic features. A RNAseq analysis highlights a fusion between YWHAE (pink) and NUTM2A (blue) genes, respectively located on chr17p13.3 and chr10q23.2. As the breakpoints are intra exonic (in exon 5 for YWHAE, and exon 2 for NUTM2A), the fusion point can easily been detected by split and span reads encompassing the rearrangement with a good coverage. Localized on minus strand (inverse orientation), the DNA sequence of NUTM2A is switched in frame with YWHAE (Circos plot). B RNAseq analysis highlights a fusion between KDM2B (pink) and NUTM2B (blue) genes, respectively located on chr10.q22.3 and chr12.q24.31. As the breakpoints are intra exonic (in exon 22 for KDM2B, and exon 5 for NUTM2B), the fusion point can easily been detected by split and span reads encompassing the rearrangement with a good coverage. Localized on minus strand (inverse orientation), the DNA sequence of NUTM2B is switched in frame with KDM2B (Circos plot). C RNAseq analysis highlights a fusion between YAP1 (pink) and KDM2B (blue) genes, respectively located on chr11q22.1 and chr12q24.31. As the breakpoints are intra exonic (in exon 5 for YAP1, and exon 13 for KDM2B), the fusion point can easily been detected by split and span reads encompassing the rearrangement with a good coverage. Localized on minus strand (inverse orientation), the DNA sequence of KDM2B is switched in frame with YAP1 (Circos plot). For this case, the quality of the method of detection was not perfect and we cannot affirm that it was not a reciprocal fusion. D RNAseq analysis highlights a fusion between CHST11 (pink) and KDM2B (blue) genes, respectively located on chr12q23.3 and chr12q24.31. As the breakpoints are intra exonic (in exon 2 for CHST11, and exon 12 for KDM2B), the fusion point can easily been detected by split and span reads encompassing the rearrangement with a good coverage. Localized on minus strand (inverse orientation), the DNA sequence of KDM2B is switched in frame with CHST11 (Circos plot). The representations of fusion transcripts were obtained by RNA-seq analysis and built by the ARRIBA bioinformatics fusion finder tool which sometimes highlights reciprocal fusions. The fusion transcripts between the 5' gene (pink) and the 3' gene (blue) are represented on the left. The sequences of the fusion points are written below the transcript pattern. The fusions are systematically exon-exon and preserve the reading frame. The right columns show the fusion proteins and the domains retained by the fusions. Protein domains legend: 14-3-3: 14-3-3 domain superfamily; JmjC: Jumonji family of transcription factors; Cxxc: Zinc finger CXXC-type; Fbox: F-box-like domain superfamily