Table 2.
Summary of elevated intron retention events in C9high patient samples compared to normal controls that affect transcripts encoding subunits of the proteasome machinery
| Gene | Basic molecular function | # of IR events | Effect from IR |
|---|---|---|---|
| PSMA3 | Proteasome (prosoma, macropain) subunit, alpha type, 3 | 3 | IR 1: C terminus truncation IR 2: C terminus truncation and change IR 3: C terminus change |
| PSMA4 | Proteasome (prosoma, macropain) subunit, alpha type, 4 | 2 | IR 1: Complete coding protein change IR 2: Complete coding protein change |
| PSMA7 | Proteasome (prosoma, macropain) subunit, alpha type, 7 | 1 | IR: C terminus truncation |
| PSMB4 | Proteasome (prosoma, macropain) subunit, beta type, 4 | 2 | IR 1: C terminus truncation and change IR 2: C terminus truncation |
| PSMB10 | Proteasome (prosoma, macropain) subunit, beta type, 10 | 1 | IR: C terminus truncation and change |
| PSMC3 | Proteasome (prosoma, macropain) 26s subunit, atpase type, 3 | 1 | IR: C terminus change |
| PSMC4 | Proteasome (prosoma, macropain) 26s subunit, atpase type, 4 | 1 | IR: C terminus truncation and change |
| PSMC5 | Proteasome (prosoma, macropain) 26s subunit, alpha type, 5 | 2 | IR 1: C terminus truncation and change IR 2: C terminus truncation |
| PSMC6 | Proteasome (prosoma, macropain) 26s subunit, alpha type, 6 | 1 | IR: C terminus truncation and change |
| PSMD3 | Proteasome (prosoma, macropain) 26s subunit, non-atpase, 3 | 1 | IR: C terminus truncation and change |
| PSMD6 | Proteasome (prosoma, macropain) 26s subunit, non-atpase, 6 | 1 | IR: C terminus truncation and change |
| PSMD7 | Proteasome (prosoma, macropain) 26s subunit, non-atpase, 7 | 1 | IR: C terminus truncation and change |
| PSMD11 | Proteasome (prosoma, macropain) 26s subunit, non-atpase, 11 | 2 | IR 1: C terminus truncation and change IR 2: C terminus truncation and change |
| PSMD13 | Proteasome (prosoma, macropain) 26s subunit, non-atpase, 13 | 1 | IR: C terminus truncation |
| PSME1 | Proteasome (prosoma, macropain) activator subunit 1 (pa28 alpha) | 1 | IR: C terminus truncation and change |
| PSME2 | Proteasome (prosoma, macropain) activator subunit 2 (pa28 beta) | 3 | IR 1: C terminus truncation and change IR 2: C terminus truncation and change IR 3: C terminus truncation and change |
| PSME4 | Proteasome (prosoma, macropain) activator subunit 4 | 1 | IR: C terminus truncation and change |
