Fig. 3.

Example of CCDC6-RET. a CCDC6-RET shown in MoMI-G (compressed view). The thickest black line is chromosome 10 (reference genome). Note that the two distinct intervals of chromosome 10 are shown, which correspond to the RET (left interval) and CCDC6 (right interval) genes. The blue line represents an inversion identified by Sniffles, showing the CCDC6-RET fusion event. The other lines are gene annotations in hg38; the orange, red, and purple lines indicate two isoforms of RET, and the brown line is CCDC6. b CCDC6-RET with read alignments shown as grey lines. Further, some alignments do not support the inversion, suggesting that CCDC6-RET is heterozygous. c The entire picture of the inversion that caused CCDC6-RET. This inversion is too large to span by a single read; thus, it was identified as two independent fusion events at both the ends of the inversion, which would be difficult to understand if the two fusion events are visualized separately. The red line is a translocation that was not analyzed in this study. d Putative evolution process of LC-2/ad at the CCDC6-RET site. First, a long inversion generated two fusion genes, CCDC6-RET and RET-CCDC6. Second, a large deletion caused the loss of RET-CCDC6