Figure 1

Outline of the process of mapping translocation breakpoints. Each junction sequence obtained from the literature or nucleotide database (A) was blasted against a database (B) comprising the genomic sequence of all genes known to be involved in reciprocal translocations in human tumors. Inspection of the BLAST output (C) identifies the specific region of each gene involved in the translocation. In the case of genomic fusion sequences, like the one shown in A, BLAST also identifies the nucleotide position of the breakpoint on both translocation partner genes (C, right panels). In this example the breakpoints are located in nucleotide 8654 of intron 4 of ENST00000266427 (ETV6) and in nucleotide 230 of intron 15 of ENST00000381652 (JAK2).