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. Author manuscript; available in PMC: 2021 Mar 24.
Published in final edited form as: J Pathol. 2018 Apr 16;245(2):186–196. doi: 10.1002/path.5071

Figure 2. RNA-Seq identification of the CRTC1-SS18 gene fusion.

Figure 2.

(A) The genomic intron/exon structure of the CRTC1 gene (blue) and SS18 (red). CRTC1(Ex1)-SS18(Ex2) gene fusion was found in Case 1 and Case 2, whilst CRTC1(Ex1)-SS18(Ex3) alternative splicing gene fusion was found only in Case 1. (B) Sanger sequencing chromatogram of the RT-PCR product is shown and confirmed the CRTC1(Ex1)-SS18(Ex2) fusion junction and the CRTC1(Ex1)-SS18(Ex3) fusion junction in Case 1. (C) Schematic of the Exon-intron structure of the CRTC1-SS18 gene fusion at the DNA level. The intergenic breakpoint for both genes is shown and was confirmed by Sanger sequencing of the LR-PCR product in Case 1.