Fig. 2.

Description and validation of BCOR-CREBBP fusion product. Structure and functional domains of BCOR and CREBBP with the red line indicating the fusion point (a). The detected fusion joins exon 4 of BCOR on chromosome X with exon 31 of CREBBP on chromosome 16 (b). RNA sequencing demonstrated multiple reads in support of the fusion transcript (c). RT-PCR using primers for CREBBP and BCOR demonstrates a robust PCR product (d). Sanger sequencing confirmed the chimeric DNA transcript, with the black dashed line indicating the fusion point (e)