Table 5.
Performance of Human Exon 1.0 ST array (Affymetrix) for 33 published missplicing events
| DM1 vs. N$ |
DM2 vs. N$ |
NMD vs. N$ |
|||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Gene | In/Out | Exon | Ref. | On Array* | In Core Set* | Predicted PSR* | Flag* | SI | Adjusted p-value | SI | Adjusted p-value | SI | Adjusted p-value |
| ANK2 | Out | 21 | [37] | Y | N | 2740265 (ext) | na | na | na | na | na | na | |
| APP | Out | 6 | [38] | Y | Y | 3927282 | 1.084 | 1 | −1.021 | 0.982 | 1.255 | 0.481 | |
| ATP2A1 | Out | 22 | [39] | Y | Y | 3655096 | −1.526 | 0.866 | −1.427 | 0.642 | 1.191 | 0.898 | |
| CAPN3 | Out | 19 | [14] | Y | N | na | na | na | na | na | na | na | |
| CAPZB | Out | 8 | [37] | Y | Y | 2399783 | −1.107 | 1 | −1.087 | 0.92 | 1.129 | 0.695 | |
| CLCN1 | Out | 6, 6b, 7 | [18] | Y | Y | 3029080 (E6) | 1.275 | 0.969 | 1.273 | 0.651 | 1.571 | 0.476 | |
| DMD | Out | 71 | [40] | Y | Y | 4004072 | −1.553 | 0.933 | −1.645 | 0.673 | −1.306 | 0.932 | |
| Out | 78 | [40] | Y | Y | 4004053 | −1.957 | 0.919 | −1.385 | 0.657 | −1.1 | 0.979 | ||
| DTNA | In | 11a–12 | [41] | N | N | na | na | na | na | na | na | na | |
| FHOD1 | Out | 11a, 12 | [14] | Y | Y | 3695563 | −1.323 | 0.981 | 1.105 | 0.897 | 1.282 | 0.666 | |
| GFPT2 | Out | 10 | [14] | Y | Y | 2558088 | nd | nd | nd | nd | nd | nd | |
| GNAS | In | 3 | [16] | Y | Y | 3891224 | nd | nd | nd | nd | nd | nd | |
| GRIN1 | In | 5 | [38] | N | N | na | na | na | na | na | na | na | |
| INSR | Out | 11 | [39, 42] | Y | N | 3848288 | nd | nd | nd | nd | nd | nd | |
| LDB3 | In | 4 | [33] | Y | Y | 3255989 | 1.158 | 1 | 1.355 | 0.73 | −1.188 | 0.869 | |
| In | 7 | [14, 33] | Y | Y | 3256033 | 2.158 | 0.328 | 2.868 | 0.004 | −1.357 | 0.265 | ||
| MAPT | Out | 3,4 | [43] | Y | Y | 3723710 | −1.11 | 0.929 | −1.038 | 0.93 | −1.36 | 0.237 | |
| Out | 3,4 | [43] | Y | Y | 3723712 | −1.179 | 1 | −1.094 | 0.726 | −1.278 | 0.397 | ||
| MBNL1 | In | 7 | [14] | Y | Y | 2648197 | 1.062 | 1 | 1.055 | 0.946 | 1.073 | 0.899 | |
| In | 7 | [14] | Y | Y | 2648200 | −1.223 | 0.953 | −1.369 | 0.562 | 1.296 | 0.548 | ||
| MBNL2 | In | 7 | [14] | Y | Y | 3497640 | DM2 | 3.923 | 0.075 | 3.287 | 0.005 | 2.889 | 0.063 |
| MEF2A | In | 5a | [28] | Y | Y | 3611221 | DM2 | 1.664 | 0.214 | 1.56 | 0.033 | 1.559 | 0.202 |
| MEF2C | In | 5a | [28] | Y | Y | 2866255 | 1.994 | 0.391 | 1.857 | 0.073 | 1.528 | 0.316 | |
| In | 5a | [28] | Y | Y | 2866256 | 1.333 | 0.982 | 1.418 | 0.599 | 1.371 | 0.61 | ||
| MTDH | In | 7 | [16] | Y | Y | 3108463 | −1.023 | 1 | 1.127 | 0.632 | 1.186 | 0.458 | |
| MTMR1 | Out | 2.1, 2.2 | [44] | N | N | na | na | na | na | na | na | na | |
| NFIX | In | 7 | [16] | Y | Y | 3822162 | 1.165 | 0.928 | 1.158 | 0.647 | 1.181 | 0.497 | |
| NRAP | Out | 12 | [14] | Y | Y | 3307631 | −1.003 | 1 | −1.139 | 0.797 | −1.015 | 0.982 | |
| PDLIM3 | In | 5a | [14] | Y | Y | 2796971 | DM2 | 3.458 | 0.327 | 4.141 | 0.003 | 2.99 | 0.059 |
| PPP2R5C | Out | 12 | [16] | Y | Y | 3552821 | −1.564 | 0.742 | −1.518 | 0.369 | −2.189 | 0.227 | |
| RYR1 | Out | 70 | [39] | N | N | na | na | na | na | na | na | na | |
| SMYD1 | In | 5 | [16] | Y | Y | 2492767 | 1.896 | 0.788 | 2.014 | 0.158 | 2.085 | 0.263 | |
| SPAG9 | Out | 26a | [16] | Y | N | 3762534 (ext) | na | na | na | na | na | na | |
| TNNT2 | In | 5 | [45] | N | N | na | na | na | na | na | na | na | |
| TNNT3 | In | 7, 8, F | [23] | N | N | na | na | na | na | na | na | na | |
| TTN | In | 11 | [14] | Y | N | 2589834 (full) | na | na | na | na | na | na | |
*
Y, yes; N, no. na, not applicable; nd, not detected.
$
Flag criteria: (1) SI≥|1.5|, (2) adjusted p-value≤0.05, and (3) FC<|3|.