RNA-Seq and Sanger sequencing of ADNP-C20orf132. We identified another in-frame gene fusion in a primary tumor that was present as two transcript isoforms: (A) schematic of the first predicted gene fusion isoform illustrating RNA-Seq evidence that support the fusion between exon 2 of ADNP and exon 17 of C20orf132; (B) Sanger sequencing of the fusion junction of the first isoform; (C) while searching for fusion junction-spanning reads, we subsequently identified a second isoform in which exon 1 of ADNP was fused with exon 17 of C20orf132; and (D) Sanger sequencing of the fusion junction of the second isoform. Reads are indicated by black solid lines. Paired reads are indicated by the dotted line joining two reads. Reads that span across the fusion junction are highlighted by red solid lines.
Ha et al. BMC Medical Genomics 2011 4:75 doi:10.1186/1755-8794-4-75