Table 1.
Overview of the 34 DM1-relevant developmental splice events in the frontal cortex.
| Event | Skipped exon coordinates | Length | Inclusion in DM1 |
|---|---|---|---|
| MBNL1 | chr3:152446704-152446757 | 54 | Increased |
| ADD1 | chr4:2926642-2926675 | 34 | Increased |
| TACC2 | chr10:122245065-122245073 | 9 | Increased |
| MBNL2a | chr13:97356796-97356849 | 54 | Increased |
| MBNL2b | chr13:97366459-97366553 | 95 | Increased |
| MBNL2c | chr13:97366459-97366553 | 95 | Increased |
| TCF3 | chr19:1615285-1615485 | 201 | Increased |
| PLA2G6 | chr22:38128269-38128430 | 162 | Increased |
| SOS1 | chr2:38989270-38989314 | 45 | Decreased |
| ATP1B3 | chr3:141902136-141902227 | 92 | Decreased |
| LRRFIP2 | chr3:37091467-37091538 | 72 | Decreased |
| PALLD | chr4:168925233-168925278 | 46 | Decreased |
| PACRGL | chr4:20702141-20702221 | 81 | Decreased |
| SEPT11 | chr4:77036773-77036837 | 65 | Decreased |
| GABRG2 | chr5:162151730-162151753 | 24 | Decreased |
| NRCAM | chr7:108166921-108167073 | 153 | Decreased |
| GOLGA2 | chr9:128272785-128272865 | 81 | Decreased |
| SORBS1a | chr10:95351209-95351376 | 168 | Decreased |
| SORBS1b | chr10:95351216-95351376 | 161 | Decreased |
| SORBS1c | chr10:95375973-95376056 | 84 | Decreased |
| NUMA1 | chr11:72012401-72012442 | 42 | Decreased |
| CAMKK2 | chr12:121244573-121244615 | 43 | Decreased |
| DNM1L | chr12:32705825-32705863 | 39 | Decreased |
| PPHLN1 | chr12:42384940-42384996 | 57 | Decreased |
| DCLK1 | chr13:35788212-35788285 | 74 | Decreased |
| PACS2 | chr14:105385685-105385717 | 33 | Decreased |
| TJP1 | chr15:29719777-29720016 | 240 | Decreased |
| KIFC3 | chr16:57759125-57759153 | 29 | Decreased |
| MTSS1L | chr16:70679315-70679323 | 9 | Decreased |
| ARHGAP44 | chr17:12973302-12973319 | 18 | Decreased |
| MAPT | chr17:45971859-45971945 | 87 | Decreased |
| CSNK1D | chr17:82245976-82246039 | 64 | Decreased |
| DLGAP1 | chr18:3656084-3656113 | 30 | Decreased |
| DMD | chrX:31126642-31126673 | 32 | Decreased |
All events showed a significant difference (|ΔΨ| > 0.2, P < 0.01 by rank-sum test) in frontal cortex samples between DM1 patients and unaffected controls and between prenatal and postnatal healthy individuals. Genomic coordinates are based on the hg38 genome build. Note that the coordinates for MBNL2b and MBNL2c are duplicated because these events share the same skipped exon but varying up- and downstream exons (see Supplementary Table S4).