Table 1.
MaxEntScan Scores for Spliceogenic Variants from DBASS3 and DBASS5 Compared with Scores for Wild‐Type Splice Junctions for Disease Genes
| MaxEntScan score for wild‐type splice junctiona | MaxEntScan score for variant sequence damaging splice junction functionb | MaxEntScan score for wild‐type k‐mer sequence underlying de novo sitesa | MaxEntScan score for variant k‐mer sequence creating de novo sitesb | ||
|---|---|---|---|---|---|
| Number of sequence variants | Ave (SD) | Ave (SD) | Ave (SD) | Ave (SD) | |
| DBASS5 wild‐type donorsa | 336 | 8.02 (2.10) | 0.59 (2.88) | n/a | n/a |
| DBASS3 wild‐type acceptorsa | 240 | 8.21 (2.74) | 1.53 (3.54) | n/a | n/a |
| DBASS5 de novo donors | 71 | 7.57 (2.42) | n/a | 1.47 (4.94) | 7.29 (3.63) |
| DBASS3 de novo acceptors | 12 | 7.14 (2.26) | n/a | 1.90 (3.62) | 8.33 (2.39) |
| BRCA1, BRCA2, ATM wild‐type donors | 110 | 8.02 (2.31) | n/a | n/a | n/a |
| BRCA1, BRCA2, ATM wild‐type acceptors | 110 | 7.98 (2.44) | n/a | n/a | n/a |
a
Scores for the relevant wild‐type splice junction k‐mer of exons included in the analysis.
b
Scores for the k‐mer containing spliceogenic variants from DBASS. Excludes scores for BRCA1, BRCA2, and ATM.