Predicted Fusion Genes with PTPN12 as a Gene Partner. (A) The predicted intrachromosomal fusion gene PTPN12/RSBN1L is one of two predicted intrachromosomal fusion genes. This fusion gene arises from a deletion within an amplified region, and is only present in 8 individuals out of 16 that have some rearrangement with PTPN12. (B) The predicted interchromosomal fusion gene TMEM30A-PTPN12 is one of 8 predicted interchromsomal fusion genes. While the breakpoint in TMEM30A appears to arise due to a short amplification, a translocation occurring after an amplification (where all of TMEM30A is amplified) may also explain this fusion gene signature.
Ritz et al. BMC Bioinformatics 2011 12:114 doi:10.1186/1471-2105-12-114