Fig. 2.

Validation of the VTI1A-CFAP46 fusion transcript. a VTI1A and CFAP46 are both located in chromosome 10: VTI1A is located at position 112446988–112947204, while CFAP46 is located at position 132808392–132942585 (NCBI Reference GRCh38.p7 Primary Assembly). Transcription of these genes occurs in opposite directions; as a result, the fusion transcript consists of the sense strand of VTI1A exons 1–4 and 6–8 fused to the antisense strand of CFAP46 exons 1–30. RT-PCRs of paired tumor/nonmalignant cases using primers spanning each fusion junction confirmed that bands corresponding to the fusion transcript were present only in tumor. Sanger sequencing confirmed the fusion junction sequences of VTI1A exon 8 and CFAP46 exon 30. b The protein encoded by the fusion transcript has lost 29 amino acids and changed 1 amino acid (I→Q) at the C-terminus of VTI1A due to a stop codon caused by the fusion.