Fig. 1.

FGFR3-TACC3 gene fusion identified by whole-transcriptome sequencing of GSCs. (A) Here, 76 split-reads are shown aligning on the breakpoint. The predicted reading frame at the breakpoint is shown at the top with FGFR3 sequences in red and TACC3 in blue. (B) (Left) FGFR3-TACC3–specific PCR from cDNA derived from GSCs and GBMs. M, 1-kb DNA ladder. (Right) Sanger sequencing chromatogram showing the reading frame at the breakpoint and putative translation of the fusion protein in the positive samples. T, threonine; S, serine; D, aspartic acid; F, phenylalanine; E, glutamic acid. (C) Schematics of the FGFR3-TACC3 protein. Regions corresponding to FGFR3 or TACC3 are shown in red or blue, respectively. The fusion protein joins the tyrosine kinase domain of FGFR3 to the TACC domain of TACC3. (D) Genomic fusion of FGFR3 exon 17 with intron 7 of TACC3. In the fused mRNA, exon 16 of FGFR3 is spliced 5′ to exon 8 of TACC3. Solid black arrows indicate the position of the fusion-genome primers, which generate fusion-specific PCR products in GSC-1123 and GBM-1123.