Figure 1
Figure 1. TBL1XR1/TP63 gene fusion observed using paired-end massively parallel RNA sequencing and the genomic fusion breakpoints. (A) Top panel: 77 paired read sequences are shown aligning on either side of the fusion point pairing TBL1XR1 and TP63 in one case of DLBCL. Genomic coordinates of exon boundaries are shown. Bottom panel: 17 split-reads are shown that cross the fusion junction, aligned to the merged sequence of the 2 genes. The histogram on the right of this panel shows the frequency of each split-read, a total of 55 split-reads. (B) An ideogram of chromosome 3 is shown, indicating the locations of TBL1XR1 and TP63 at 3q26.32 and 3q28, respectively. The gene fusions result from chromosomal rearrangement(s) that include an inversion event. Arrows above the genes indicate the direction of transcription. At the bottom, the genomic fusion breakpoints are shown for the 5 cases detected by RNA sequencing. Genomic coordinates are given for the fusion breakpoints and the exon boundaries. In DLBCL case 3, a further inversion event is shown within intron 3 of TP63. All genomic coordinates correspond to the GRCh37 (hg19) human genome assembly.

TBL1XR1/TP63 gene fusion observed using paired-end massively parallel RNA sequencing and the genomic fusion breakpoints. (A) Top panel: 77 paired read sequences are shown aligning on either side of the fusion point pairing TBL1XR1 and TP63 in one case of DLBCL. Genomic coordinates of exon boundaries are shown. Bottom panel: 17 split-reads are shown that cross the fusion junction, aligned to the merged sequence of the 2 genes. The histogram on the right of this panel shows the frequency of each split-read, a total of 55 split-reads. (B) An ideogram of chromosome 3 is shown, indicating the locations of TBL1XR1 and TP63 at 3q26.32 and 3q28, respectively. The gene fusions result from chromosomal rearrangement(s) that include an inversion event. Arrows above the genes indicate the direction of transcription. At the bottom, the genomic fusion breakpoints are shown for the 5 cases detected by RNA sequencing. Genomic coordinates are given for the fusion breakpoints and the exon boundaries. In DLBCL case 3, a further inversion event is shown within intron 3 of TP63. All genomic coordinates correspond to the GRCh37 (hg19) human genome assembly.

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