Table 2.
rMATS results on differentially spliced events in ANO7 between carriers and non-carriers
| Event description | Benign | Cancer | ||||||
|---|---|---|---|---|---|---|---|---|
| Event ID | IncLevelDifference | P-value | FDR | Event ID | IncLevelDifference | P-value | FDR | |
| Skipped exon: exon 4 reference. Upstream exon: exon 3 extended in the 5′ end with 9 nucleotides. Downstream exon: exon 5 reference. | 12 722 | −0.166 | 2.82 × 10−2 | 1 | 12 384 | −0.153 | 1.75 × 10−6 | 2.56 × 10−2 |
| Skipped exon: Cryptic exon in intron 3 (153 bp, 241 191 763–241 191 915). Upstream exon: exon 3 reference. Downstream exon: exon 4 ANO7-S reference. | 12 612 | 0.173 | 0.00 | 0.00 | Not detected | |||
| Skipped exon: cryptic exon in intron 3 (189 bp, 241 194 842–241 195 030). Upstream exon: exon 3 reference. Downstream exon: exon 4 truncated in the 5′ end with 3 nucleotides. | 12 627 | 0.249 | 0.00 | 0.00 | Not detected | |||
| Skipped exon: cryptic exon in intron 3 (247 bp, 241 191 669–241 191 915). Upstream exon: exon 3 reference. Downstream exon: exon 4 truncated in the 5′ end with 3 nucleotides. | 12 688 | 0.199 | 0.00 | 0.00 | Not detected | |||
| Long exon: exon 7 extended in the 3′ end with 169 nucleotides. Short exon: exon 7 reference. Flanking exon: exon 8 reference. | 3021* | 0.162 | 1.30 × 10−9 | 2.59 × 10−5 | 3044* | 0.139 | 1 | 1 |
| Long exon: exon 7 extended in the 3′ end with 169 nucleotides. Short exon: exon 7 reference. Flanking exon: exon 8 reference. | 3021* | 0.158 | 8.20 × 10−9 | 3.25 × 10−4 | 3044* | 0.141 | 1 | 1 |
* Event 3021/3044 results from both ‘ReadsOnTargetAndJunctionCounts’ and ‘JunctionCountsOnly’ are reported.
Gray fields show non-significant results.