Figure 2

TSC2 - RNF216 fusion gene breakage. (a) Exon structure of the TSC2-RNF216 fusion gene. The numbers in the boxes are the exon numbers of each gene. Red lines indicate the fusion points. (b) Protein domain structure of the TSC2-RNF216 fusion protein. The Rap-GAP domain of TSC2 was broken, and RNF216 had a frameshift mutation causing premature termination by the interchromosomal rearrangement. (c) Structure of the TSC2 Rap-GAP domain. The red region is the remaining Rap-GAP domain region, and the gray region is the Rap-GAP domain that is deleted in the TSC2-RNF216 fusion gene. (d) RNA sequence of the TSC2-RNF216 fusion gene. Position 136 is shown as N. Either an A or G base produces a termination codon (TAA or TAG). (e) Verification of the TSC2-RNF216 fusion transcript in RNA (cDNA) by means of PCR amplification and electrophoresis.