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PRPF mutations are associated with generalized defects in spliceosome formation and pre-mRNA splicing in patients with retinitis pigmentosa
Patient screen Tanackovic et al.
Transcript map
: APC CTL W1 13167
- APC.F16 / APC.R14 (CM018586 L5) : Curve | Curve set
- APC.F16 / APC.R14 (CM018586 L5) : Curve | Curve set
Exon
Length: 39
Transcript: APC.aAug05
Length: 39
Transcript: APC.aAug05
Exon
Length: 153
Transcript: APC.aAug05
Length: 153
Transcript: APC.aAug05
Exon
Length: 85
Transcript: APC.aAug05
Length: 85
Transcript: APC.aAug05
Exon
Length: 202
Transcript: APC.aAug05
Length: 202
Transcript: APC.aAug05
Exon
Length: 109
Transcript: APC.aAug05
Length: 109
Transcript: APC.aAug05
Exon
Length: 114
Transcript: APC.aAug05
Length: 114
Transcript: APC.aAug05
Exon
Length: 84
Transcript: APC.aAug05
Length: 84
Transcript: APC.aAug05
Exon
Length: 105
Transcript: APC.aAug05
Length: 105
Transcript: APC.aAug05
Exon
Length: 99
Transcript: APC.aAug05
Length: 99
Transcript: APC.aAug05
Exon
Length: 379
Transcript: APC.aAug05
Length: 379
Transcript: APC.aAug05
Exon
Length: 96
Transcript: APC.aAug05
Length: 96
Transcript: APC.aAug05
Exon
Length: 140
Transcript: APC.aAug05
Length: 140
Transcript: APC.aAug05
Exon
Length: 78
Transcript: APC.aAug05
Length: 78
Transcript: APC.aAug05
Exon
Length: 117
Transcript: APC.aAug05
Length: 117
Transcript: APC.aAug05
Exon
Length: 215
Transcript: APC.aAug05
Length: 215
Transcript: APC.aAug05
Exon
Length: 8687
Transcript: APC.aAug05
Length: 8687
Transcript: APC.aAug05
Intron
Length: 16947
Transcript: APC.aAug05
Length: 16947
Transcript: APC.aAug05
Intron
Length: 11300
Transcript: APC.aAug05
Length: 11300
Transcript: APC.aAug05
Intron
Length: 778
Transcript: APC.aAug05
Length: 778
Transcript: APC.aAug05
Intron
Length: 8238
Transcript: APC.aAug05
Length: 8238
Transcript: APC.aAug05
Intron
Length: 5052
Transcript: APC.aAug05
Length: 5052
Transcript: APC.aAug05
Intron
Length: 11542
Transcript: APC.aAug05
Length: 11542
Transcript: APC.aAug05
Intron
Length: 8749
Transcript: APC.aAug05
Length: 8749
Transcript: APC.aAug05
Intron
Length: 14111
Transcript: APC.aAug05
Length: 14111
Transcript: APC.aAug05
Intron
Length: 3372
Transcript: APC.aAug05
Length: 3372
Transcript: APC.aAug05
Intron
Length: 2551
Transcript: APC.aAug05
Length: 2551
Transcript: APC.aAug05
Intron
Length: 5116
Transcript: APC.aAug05
Length: 5116
Transcript: APC.aAug05
Intron
Length: 681
Transcript: APC.aAug05
Length: 681
Transcript: APC.aAug05
Intron
Length: 849
Transcript: APC.aAug05
Length: 849
Transcript: APC.aAug05
Intron
Length: 5978
Transcript: APC.aAug05
Length: 5978
Transcript: APC.aAug05
Intron
Length: 2387
Transcript: APC.aAug05
Length: 2387
Transcript: APC.aAug05
Exon
Length: 31
Transcript: APC.bAug05
Length: 31
Transcript: APC.bAug05
Exon
Length: 108
Transcript: APC.bAug05
Length: 108
Transcript: APC.bAug05
Exon
Length: 153
Transcript: APC.bAug05
Length: 153
Transcript: APC.bAug05
Exon
Length: 85
Transcript: APC.bAug05
Length: 85
Transcript: APC.bAug05
Exon
Length: 202
Transcript: APC.bAug05
Length: 202
Transcript: APC.bAug05
Exon
Length: 109
Transcript: APC.bAug05
Length: 109
Transcript: APC.bAug05
Exon
Length: 114
Transcript: APC.bAug05
Length: 114
Transcript: APC.bAug05
Exon
Length: 84
Transcript: APC.bAug05
Length: 84
Transcript: APC.bAug05
Exon
Length: 105
Transcript: APC.bAug05
Length: 105
Transcript: APC.bAug05
Exon
Length: 99
Transcript: APC.bAug05
Length: 99
Transcript: APC.bAug05
Exon
Length: 379
Transcript: APC.bAug05
Length: 379
Transcript: APC.bAug05
Exon
Length: 96
Transcript: APC.bAug05
Length: 96
Transcript: APC.bAug05
Exon
Length: 140
Transcript: APC.bAug05
Length: 140
Transcript: APC.bAug05
Exon
Length: 78
Transcript: APC.bAug05
Length: 78
Transcript: APC.bAug05
Exon
Length: 117
Transcript: APC.bAug05
Length: 117
Transcript: APC.bAug05
Exon
Length: 215
Transcript: APC.bAug05
Length: 215
Transcript: APC.bAug05
Exon
Length: 8504
Transcript: APC.bAug05
Length: 8504
Transcript: APC.bAug05
Intron
Length: 427
Transcript: APC.bAug05
Length: 427
Transcript: APC.bAug05
Intron
Length: 16412
Transcript: APC.bAug05
Length: 16412
Transcript: APC.bAug05
Intron
Length: 11300
Transcript: APC.bAug05
Length: 11300
Transcript: APC.bAug05
Intron
Length: 778
Transcript: APC.bAug05
Length: 778
Transcript: APC.bAug05
Intron
Length: 8238
Transcript: APC.bAug05
Length: 8238
Transcript: APC.bAug05
Intron
Length: 5052
Transcript: APC.bAug05
Length: 5052
Transcript: APC.bAug05
Intron
Length: 11542
Transcript: APC.bAug05
Length: 11542
Transcript: APC.bAug05
Intron
Length: 8749
Transcript: APC.bAug05
Length: 8749
Transcript: APC.bAug05
Intron
Length: 14111
Transcript: APC.bAug05
Length: 14111
Transcript: APC.bAug05
Intron
Length: 3372
Transcript: APC.bAug05
Length: 3372
Transcript: APC.bAug05
Intron
Length: 2551
Transcript: APC.bAug05
Length: 2551
Transcript: APC.bAug05
Intron
Length: 5116
Transcript: APC.bAug05
Length: 5116
Transcript: APC.bAug05
Intron
Length: 681
Transcript: APC.bAug05
Length: 681
Transcript: APC.bAug05
Intron
Length: 849
Transcript: APC.bAug05
Length: 849
Transcript: APC.bAug05
Intron
Length: 5978
Transcript: APC.bAug05
Length: 5978
Transcript: APC.bAug05
Intron
Length: 2387
Transcript: APC.bAug05
Length: 2387
Transcript: APC.bAug05
Exon
Length: 67
Transcript: APC.cAug05
Length: 67
Transcript: APC.cAug05
Exon
Length: 153
Transcript: APC.cAug05
Length: 153
Transcript: APC.cAug05
Exon
Length: 85
Transcript: APC.cAug05
Length: 85
Transcript: APC.cAug05
Exon
Length: 202
Transcript: APC.cAug05
Length: 202
Transcript: APC.cAug05
Exon
Length: 109
Transcript: APC.cAug05
Length: 109
Transcript: APC.cAug05
Exon
Length: 114
Transcript: APC.cAug05
Length: 114
Transcript: APC.cAug05
Exon
Length: 84
Transcript: APC.cAug05
Length: 84
Transcript: APC.cAug05
Exon
Length: 105
Transcript: APC.cAug05
Length: 105
Transcript: APC.cAug05
Exon
Length: 186
Transcript: APC.cAug05
Length: 186
Transcript: APC.cAug05
Exon
Length: 99
Transcript: APC.cAug05
Length: 99
Transcript: APC.cAug05
Exon
Length: 379
Transcript: APC.cAug05
Length: 379
Transcript: APC.cAug05
Exon
Length: 96
Transcript: APC.cAug05
Length: 96
Transcript: APC.cAug05
Exon
Length: 140
Transcript: APC.cAug05
Length: 140
Transcript: APC.cAug05
Exon
Length: 78
Transcript: APC.cAug05
Length: 78
Transcript: APC.cAug05
Exon
Length: 117
Transcript: APC.cAug05
Length: 117
Transcript: APC.cAug05
Exon
Length: 215
Transcript: APC.cAug05
Length: 215
Transcript: APC.cAug05
Exon
Length: 5188
Transcript: APC.cAug05
Length: 5188
Transcript: APC.cAug05
Intron
Length: 16947
Transcript: APC.cAug05
Length: 16947
Transcript: APC.cAug05
Intron
Length: 11300
Transcript: APC.cAug05
Length: 11300
Transcript: APC.cAug05
Intron
Length: 778
Transcript: APC.cAug05
Length: 778
Transcript: APC.cAug05
Intron
Length: 8238
Transcript: APC.cAug05
Length: 8238
Transcript: APC.cAug05
Intron
Length: 5052
Transcript: APC.cAug05
Length: 5052
Transcript: APC.cAug05
Intron
Length: 11542
Transcript: APC.cAug05
Length: 11542
Transcript: APC.cAug05
Intron
Length: 8749
Transcript: APC.cAug05
Length: 8749
Transcript: APC.cAug05
Intron
Length: 8742
Transcript: APC.cAug05
Length: 8742
Transcript: APC.cAug05
Intron
Length: 5183
Transcript: APC.cAug05
Length: 5183
Transcript: APC.cAug05
Intron
Length: 3372
Transcript: APC.cAug05
Length: 3372
Transcript: APC.cAug05
Intron
Length: 2551
Transcript: APC.cAug05
Length: 2551
Transcript: APC.cAug05
Intron
Length: 5116
Transcript: APC.cAug05
Length: 5116
Transcript: APC.cAug05
Intron
Length: 681
Transcript: APC.cAug05
Length: 681
Transcript: APC.cAug05
Intron
Length: 849
Transcript: APC.cAug05
Length: 849
Transcript: APC.cAug05
Intron
Length: 5978
Transcript: APC.cAug05
Length: 5978
Transcript: APC.cAug05
Intron
Length: 2387
Transcript: APC.cAug05
Length: 2387
Transcript: APC.cAug05
Exon
Length: 123
Transcript: APC.dAug05
Length: 123
Transcript: APC.dAug05
Exon
Length: 76
Transcript: APC.dAug05
Length: 76
Transcript: APC.dAug05
Exon
Length: 95
Transcript: APC.dAug05
Length: 95
Transcript: APC.dAug05
Exon
Length: 1492
Transcript: APC.dAug05
Length: 1492
Transcript: APC.dAug05
Intron
Length: 1090
Transcript: APC.dAug05
Length: 1090
Transcript: APC.dAug05
Intron
Length: 1850
Transcript: APC.dAug05
Length: 1850
Transcript: APC.dAug05
Intron
Length: 27074
Transcript: APC.dAug05
Length: 27074
Transcript: APC.dAug05
Reaction
Expected peak: 232
11.3M
APC.F16
APC.R14
Expected peak: 232
11.3M
APC.F16
APC.R14
Reaction
Expected peak: 232
11.3M
APC.F16
APC.R14
Expected peak: 232
11.3M
APC.F16
APC.R14
Reaction
Expected peak: 232
11.3M
APC.F16
APC.R14
Expected peak: 232
11.3M
APC.F16
APC.R14
Reaction
Expected peak: 232
11.3M
APC.F16
APC.R14
Expected peak: 232
11.3M
APC.F16
APC.R14
Exon
Length: 43
Transcript: APC.eAug05
Length: 43
Transcript: APC.eAug05
Exon
Length: 54
Transcript: APC.eAug05
Length: 54
Transcript: APC.eAug05
Exon
Length: 140
Transcript: APC.eAug05
Length: 140
Transcript: APC.eAug05
Exon
Length: 78
Transcript: APC.eAug05
Length: 78
Transcript: APC.eAug05
Exon
Length: 117
Transcript: APC.eAug05
Length: 117
Transcript: APC.eAug05
Exon
Length: 215
Transcript: APC.eAug05
Length: 215
Transcript: APC.eAug05
Exon
Length: 120
Transcript: APC.eAug05
Length: 120
Transcript: APC.eAug05
Intron
Length: 1315
Transcript: APC.eAug05
Length: 1315
Transcript: APC.eAug05
Intron
Length: 3747
Transcript: APC.eAug05
Length: 3747
Transcript: APC.eAug05
Intron
Length: 681
Transcript: APC.eAug05
Length: 681
Transcript: APC.eAug05
Intron
Length: 849
Transcript: APC.eAug05
Length: 849
Transcript: APC.eAug05
Intron
Length: 5978
Transcript: APC.eAug05
Length: 5978
Transcript: APC.eAug05
Intron
Length: 2387
Transcript: APC.eAug05
Length: 2387
Transcript: APC.eAug05
Exon
Length: 142
Transcript: APC.fAug05
Length: 142
Transcript: APC.fAug05
Exon
Length: 76
Transcript: APC.fAug05
Length: 76
Transcript: APC.fAug05
Exon
Length: 72
Transcript: APC.fAug05
Length: 72
Transcript: APC.fAug05
Exon
Length: 112
Transcript: APC.fAug05
Length: 112
Transcript: APC.fAug05
Exon
Length: 2638
Transcript: APC.fAug05
Length: 2638
Transcript: APC.fAug05
Intron
Length: 1090
Transcript: APC.fAug05
Length: 1090
Transcript: APC.fAug05
Intron
Length: 1873
Transcript: APC.fAug05
Length: 1873
Transcript: APC.fAug05
Intron
Length: 92
Transcript: APC.fAug05
Length: 92
Transcript: APC.fAug05
Intron
Length: 2671
Transcript: APC.fAug05
Length: 2671
Transcript: APC.fAug05
Exon
Length: 222
Transcript: APC.gAug05
Length: 222
Transcript: APC.gAug05
Exon
Length: 72
Transcript: APC.gAug05
Length: 72
Transcript: APC.gAug05
Exon
Length: 112
Transcript: APC.gAug05
Length: 112
Transcript: APC.gAug05
Exon
Length: 319
Transcript: APC.gAug05
Length: 319
Transcript: APC.gAug05
Intron
Length: 1873
Transcript: APC.gAug05
Length: 1873
Transcript: APC.gAug05
Intron
Length: 92
Transcript: APC.gAug05
Length: 92
Transcript: APC.gAug05
Intron
Length: 2671
Transcript: APC.gAug05
Length: 2671
Transcript: APC.gAug05
Exon
Length: 131
Transcript: APC.hAug05
Length: 131
Transcript: APC.hAug05
Exon
Length: 76
Transcript: APC.hAug05
Length: 76
Transcript: APC.hAug05
Exon
Length: 72
Transcript: APC.hAug05
Length: 72
Transcript: APC.hAug05
Exon
Length: 112
Transcript: APC.hAug05
Length: 112
Transcript: APC.hAug05
Exon
Length: 537
Transcript: APC.hAug05
Length: 537
Transcript: APC.hAug05
Intron
Length: 1090
Transcript: APC.hAug05
Length: 1090
Transcript: APC.hAug05
Intron
Length: 1873
Transcript: APC.hAug05
Length: 1873
Transcript: APC.hAug05
Intron
Length: 92
Transcript: APC.hAug05
Length: 92
Transcript: APC.hAug05
Intron
Length: 2639
Transcript: APC.hAug05
Length: 2639
Transcript: APC.hAug05
Exon
Length: 60
Transcript: APC.iAug05
Length: 60
Transcript: APC.iAug05
Exon
Length: 153
Transcript: APC.iAug05
Length: 153
Transcript: APC.iAug05
Exon
Length: 85
Transcript: APC.iAug05
Length: 85
Transcript: APC.iAug05
Exon
Length: 191
Transcript: APC.iAug05
Length: 191
Transcript: APC.iAug05
Intron
Length: 46990
Transcript: APC.iAug05
Length: 46990
Transcript: APC.iAug05
Intron
Length: 11300
Transcript: APC.iAug05
Length: 11300
Transcript: APC.iAug05
Intron
Length: 778
Transcript: APC.iAug05
Length: 778
Transcript: APC.iAug05
Exon
Length: 108
Transcript: APC.jAug05
Length: 108
Transcript: APC.jAug05
Exon
Length: 72
Transcript: APC.jAug05
Length: 72
Transcript: APC.jAug05
Exon
Length: 112
Transcript: APC.jAug05
Length: 112
Transcript: APC.jAug05
Exon
Length: 368
Transcript: APC.jAug05
Length: 368
Transcript: APC.jAug05
Intron
Length: 3039
Transcript: APC.jAug05
Length: 3039
Transcript: APC.jAug05
Intron
Length: 92
Transcript: APC.jAug05
Length: 92
Transcript: APC.jAug05
Intron
Length: 2671
Transcript: APC.jAug05
Length: 2671
Transcript: APC.jAug05
Exon
Length: 290
Transcript: APC.kAug05
Length: 290
Transcript: APC.kAug05
Exon
Length: 85
Transcript: APC.kAug05
Length: 85
Transcript: APC.kAug05
Exon
Length: 202
Transcript: APC.kAug05
Length: 202
Transcript: APC.kAug05
Exon
Length: 25
Transcript: APC.kAug05
Length: 25
Transcript: APC.kAug05
Intron
Length: 58443
Transcript: APC.kAug05
Length: 58443
Transcript: APC.kAug05
Intron
Length: 778
Transcript: APC.kAug05
Length: 778
Transcript: APC.kAug05
Intron
Length: 8238
Transcript: APC.kAug05
Length: 8238
Transcript: APC.kAug05
Exon
Length: 86
Transcript: APC.lAug05
Length: 86
Transcript: APC.lAug05
Exon
Length: 76
Transcript: APC.lAug05
Length: 76
Transcript: APC.lAug05
Exon
Length: 72
Transcript: APC.lAug05
Length: 72
Transcript: APC.lAug05
Exon
Length: 1096
Transcript: APC.lAug05
Length: 1096
Transcript: APC.lAug05
Intron
Length: 1090
Transcript: APC.lAug05
Length: 1090
Transcript: APC.lAug05
Intron
Length: 1873
Transcript: APC.lAug05
Length: 1873
Transcript: APC.lAug05
Intron
Length: 92
Transcript: APC.lAug05
Length: 92
Transcript: APC.lAug05
Exon
Length: 123
Transcript: APC.mAug05
Length: 123
Transcript: APC.mAug05
Exon
Length: 72
Transcript: APC.mAug05
Length: 72
Transcript: APC.mAug05
Exon
Length: 112
Transcript: APC.mAug05
Length: 112
Transcript: APC.mAug05
Exon
Length: 110
Transcript: APC.mAug05
Length: 110
Transcript: APC.mAug05
Intron
Length: 536
Transcript: APC.mAug05
Length: 536
Transcript: APC.mAug05
Intron
Length: 92
Transcript: APC.mAug05
Length: 92
Transcript: APC.mAug05
Intron
Length: 2671
Transcript: APC.mAug05
Length: 2671
Transcript: APC.mAug05
Exon
Length: 142
Transcript: APC.nAug05
Length: 142
Transcript: APC.nAug05
Exon
Length: 76
Transcript: APC.nAug05
Length: 76
Transcript: APC.nAug05
Exon
Length: 508
Transcript: APC.nAug05
Length: 508
Transcript: APC.nAug05
Intron
Length: 1090
Transcript: APC.nAug05
Length: 1090
Transcript: APC.nAug05
Intron
Length: 1873
Transcript: APC.nAug05
Length: 1873
Transcript: APC.nAug05
Exon
Length: 35
Transcript: APC.oAug05
Length: 35
Transcript: APC.oAug05
Exon
Length: 78
Transcript: APC.oAug05
Length: 78
Transcript: APC.oAug05
Exon
Length: 117
Transcript: APC.oAug05
Length: 117
Transcript: APC.oAug05
Exon
Length: 25
Transcript: APC.oAug05
Length: 25
Transcript: APC.oAug05
Exon
Length: 76
Transcript: APC.oAug05
Length: 76
Transcript: APC.oAug05
Exon
Length: 72
Transcript: APC.oAug05
Length: 72
Transcript: APC.oAug05
Exon
Length: 112
Transcript: APC.oAug05
Length: 112
Transcript: APC.oAug05
Exon
Length: 179
Transcript: APC.oAug05
Length: 179
Transcript: APC.oAug05
Intron
Length: 681
Transcript: APC.oAug05
Length: 681
Transcript: APC.oAug05
Intron
Length: 849
Transcript: APC.oAug05
Length: 849
Transcript: APC.oAug05
Intron
Length: 27676
Transcript: APC.oAug05
Length: 27676
Transcript: APC.oAug05
Intron
Length: 5834
Transcript: APC.oAug05
Length: 5834
Transcript: APC.oAug05
Intron
Length: 1873
Transcript: APC.oAug05
Length: 1873
Transcript: APC.oAug05
Intron
Length: 92
Transcript: APC.oAug05
Length: 92
Transcript: APC.oAug05
Intron
Length: 2671
Transcript: APC.oAug05
Length: 2671
Transcript: APC.oAug05
Exon
Length: 35
Transcript: APC.pAug05
Length: 35
Transcript: APC.pAug05
Exon
Length: 78
Transcript: APC.pAug05
Length: 78
Transcript: APC.pAug05
Exon
Length: 1088
Transcript: APC.pAug05
Length: 1088
Transcript: APC.pAug05
Intron
Length: 681
Transcript: APC.pAug05
Length: 681
Transcript: APC.pAug05
Intron
Length: 849
Transcript: APC.pAug05
Length: 849
Transcript: APC.pAug05
Exon
Length: 167
Transcript: APC.qAug05
Length: 167
Transcript: APC.qAug05
Exon
Length: 72
Transcript: APC.qAug05
Length: 72
Transcript: APC.qAug05
Exon
Length: 112
Transcript: APC.qAug05
Length: 112
Transcript: APC.qAug05
Exon
Length: 312
Transcript: APC.qAug05
Length: 312
Transcript: APC.qAug05
Intron
Length: 1873
Transcript: APC.qAug05
Length: 1873
Transcript: APC.qAug05
Intron
Length: 92
Transcript: APC.qAug05
Length: 92
Transcript: APC.qAug05
Intron
Length: 26870
Transcript: APC.qAug05
Length: 26870
Transcript: APC.qAug05
Reaction
Expected peak: 344
8.6M
APC.F16
APC.R14
Expected peak: 344
8.6M
APC.F16
APC.R14
Reaction
Expected peak: 344
8.6M
APC.F16
APC.R14
Expected peak: 344
8.6M
APC.F16
APC.R14
Reaction
Expected peak: 344
8.6M
APC.F16
APC.R14
Expected peak: 344
8.6M
APC.F16
APC.R14
Reaction
Expected peak: 344
8.6M
APC.F16
APC.R14
Expected peak: 344
8.6M
APC.F16
APC.R14
Exon
Length: 895
Transcript: APC.shed1.aAug05
Length: 895
Transcript: APC.shed1.aAug05
Exon
Length: 538
Transcript: APC.shed2.aAug05
Length: 538
Transcript: APC.shed2.aAug05
Exon
Length: 732
Transcript: APC.shed3.aAug05
Length: 732
Transcript: APC.shed3.aAug05
Exon
Length: 488
Transcript: APC.shed4.aAug05
Length: 488
Transcript: APC.shed4.aAug05
APC.F16
TCCTACAGCTACAGAGATTCAAGATG
TCCTACAGCTACAGAGATTCAAGATG
APC.R14
TCTCTCAGTCGAGCAAGTTCC
TCTCTCAGTCGAGCAAGTTCC