Fig. 3
From: Identification of a novel HOOK3-FGFR1 fusion gene involved in activation of the NF-kappaB pathway
Validation and characterization of a novel HOOK3-FGFR1 fusion. a RNA sequencing analysis result revealed the chromosome positions of breakpoints in HOOK3 and FGFR1. b Interphase FISH analysis with FGFR1/D8Z2 Breakapart/Amplification probe (LPS018, CytoCell, UK) revealed a split FGFR1 signal pattern in the CD19- population and Myeloid blasts. The 5′ and 3′ FGFR1 are labeled with red and green, respectively; the D8Z2 (8p11-q11) region is labeled with blue as the control signal. The red arrow indicates a break-apart signal in the FGFR1 gene, and the percentages of positive signal detected in the bone marrow cells are showed in Fig. 3b. Metaphase FISH analysis exhibited a fluorescence signal in ring chromosome 8. c Validation of the HOOK3-FGFR1 fusion gene with the structure of HOOK3 exons 1-11 joining to FGFR1 exons 10-18 using PCR and Sanger sequencing. d Graphical representation of the organization process of the formation of the HOOK3-FGFR1 fusion at the chromosome level. e Schematic diagrams of the HOOK3, FGFR1, and HOOK3-FGFR1 fusion proteins. The break point is indicated by the red dashed line. CH Calponin-homology domain, TM transmembrane domain