Table 6.
Results of validation attempts for predicted novel missplicing events*
| Gene | Exon | In/Out | DM1 vs. N | DM2 vs. N | NMD vs. N | Result |
|---|---|---|---|---|---|---|
| ATP9B | 8 | Out | 0.5668 | 0.3534 | 0.1657 | no difference |
| 9b | Out | 0.3849 | 0.4133 | 0.8619 | no difference | |
| 11 | Out | 0.7261 | 0.6737 | 0.7798 | no difference | |
| BTRC | 2a | Out | 0.9578 | 0.6980 | 0.6051 | no difference |
| 2a, 2b | Out | 0.6641 | 0.5674 | 0.5452 | no difference | |
| 2b | Out | 0.3555 | 0.6376 | 0.5807 | no difference | |
| CD46 | 7 | In | 0.9039 | 0.8601 | 0.1370 | no difference |
| IL28RA | 2 | Out | 0.8594 | 0.6413 | 0.3470 | no difference |
| MASP1 | 2a | In | 0.7558 | 0.6472 | 0.1647 | no difference |
| SGCD | 2 | In | 0.6140 | 0.3070 | 0.9961 | no difference |
| SMN1 | 8 | In | 0.0626 | 0.9995 | 0.0738 | no difference |
| SSBP3 | 6 | In | 0.0013 | 0.0035 | na | DM vs. N significant |
| STAU | 1b | In | 0.2834 | 0.6541 | na | no difference |
| 2b | In | 0.7469 | 0.2206 | na | no difference | |
| TPD52L2 | 4 | In | 0.1647 | 0.0037 | 0.0051 | DM2 vs. N significant |
| NMD vs. N significant |
*
Predicted events with monomorphic/invariant PCR products: ANKD1 (E2), BIN1 (E11), CCNB1IP1 (E5), CTSB (E2b), FGD4 (E6, 14, 18), MKNK1 (E8), SPRY4 (E2), TMC4 (E11), TPM1 (E9b), and YY1AP1 (E4).