Table 2. Fusion transcripts detected by the RACE-seq approach.
Gene A | Gene B | Break position A | Break position B | Split reads* | Spanning reads* | In Frame | Probability score† | Validated§ | Sample |
---|---|---|---|---|---|---|---|---|---|
VTI1A | TCF7L2 | Chr10: 114,220,341 | Chr10: 114,900,943 | 1234 | 163 | Yes | 0.96 | Previously reported | NCI-H508 |
TCF7L2 | RP11–57H14.3 | Chr10: 114,799,885 | Chr10: 114,648,494 | 114 | 41 | No | 0.95 | Previously reported | HCT-116 |
VWA2 | TCF7L2 | Chr10: 116,014,807 | Chr10: 114,900,943 | 206 | 67 | Yes | 0.98 | Yes | Sample 17_T |
DHX35 | BPIFA2 | Chr20: 37,632,550 | Chr20: 31,767,410 | 862 | 4 | Yes | 0.23 | Yes | Sample 16_T |
CASZ1 | MASP2 | Chr1: 10,820,757 | Chr1: 11,090,938 | 107 | NA | Yes | NA | Yes | Sample 4_T |
Both previously known as well as novel fusion transcripts were detected by the RACE-seq approach and subsequent analysis of paired-end sequencing reads. Only the top-scoring nominated candidates are shown for each fusion pair. The known as well as the novel fusion transcripts VWA2-TCF7L2 and DHX35-BPIFA2 were nominated by the fusion detection software, whereas the novel CASZ1-MASP2 was detected by the Unix utility grep and scaffold realignment.
The number of split reads and spanning reads supporting the fusion junction, determined from the fusion detection software or scaffold realignment for the CASZ1-MASP2 fusion (split reads contain the fusion boundary in the read itself, whereas spanning reads are paired ends that harbor the fusion boundary within the insert sequence).
Probability score determined by the fusion detection software.
Two fusion genes involving TCF7L2 have previously been reported and served as positive control fusion targets for the RACE-seq. The novel fusions were validated by Sanger sequencing.