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. 2020 Dec;30(12):1705–1715. doi: 10.1101/gr.265298.120

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