Table 6. Nine +2T positions for which all three possible nucleotide substitutions had a consistent SpliceAI Delta score of <0.85.
Gene Symbol | mRNA Reference | Chromosome |
hg38
Coordinate |
Reference
Sequence |
SpliceAI Delta Score of Donor Loss | ||
---|---|---|---|---|---|---|---|
+2T>C | +2T>A | +2T>G | |||||
AURKC | NM_001015878.1 | 19 | 57235060 | T | 0.8 | 0.8 | 0.8 |
CCDC103 | NM_213607.2 | 17 | 44899861 | T | 0.82 | 0.82 | 0.82 |
FABP7 | NM_001446.4 | 6 | 122779869 | T | 0.83 | 0.84 | 0.84 |
IFNL2 | NM_172138.1 | 19 | 39269823 | T | 0.05 | 0.84 | 0.73 |
LY6G6F | NM_001003693.1 | 6 | 31708136 | T | 0.81 | 0.81 | 0.81 |
31710420 | T | 0.3 | 0.3 | 0.3 | |||
PSMC5 | NM_001199163.1 | 17 | 63830191 | T | 0.76 | 0.77 | 0.77 |
RPL11 | NM_000975.5 | 1 | 23695910 | T | 0.59 | 0.59 | 0.59 |
SELENOS | NM_203472.2 | 15 | 101272762 | A | 0.64 | 0.64 | 0.64 |