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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
: C11ORF4 CTL W1 13167
- C11ORF4.F3 / C11ORF4.R3 (CM018586 P21) : Curve | Curve set
- C11ORF4.F3 / C11ORF4.R3 (CM018586 P21) : Curve | Curve set
Exon
Length: 464
Transcript: C11ORF4.aAug05
Length: 464
Transcript: C11ORF4.aAug05
Exon
Length: 50
Transcript: C11ORF4.aAug05
Length: 50
Transcript: C11ORF4.aAug05
Exon
Length: 226
Transcript: C11ORF4.aAug05
Length: 226
Transcript: C11ORF4.aAug05
Exon
Length: 150
Transcript: C11ORF4.aAug05
Length: 150
Transcript: C11ORF4.aAug05
Exon
Length: 129
Transcript: C11ORF4.aAug05
Length: 129
Transcript: C11ORF4.aAug05
Exon
Length: 119
Transcript: C11ORF4.aAug05
Length: 119
Transcript: C11ORF4.aAug05
Exon
Length: 464
Transcript: C11ORF4.aAug05
Length: 464
Transcript: C11ORF4.aAug05
Intron
Length: 83
Transcript: C11ORF4.aAug05
Length: 83
Transcript: C11ORF4.aAug05
Intron
Length: 706
Transcript: C11ORF4.aAug05
Length: 706
Transcript: C11ORF4.aAug05
Intron
Length: 118
Transcript: C11ORF4.aAug05
Length: 118
Transcript: C11ORF4.aAug05
Intron
Length: 125
Transcript: C11ORF4.aAug05
Length: 125
Transcript: C11ORF4.aAug05
Intron
Length: 134
Transcript: C11ORF4.aAug05
Length: 134
Transcript: C11ORF4.aAug05
Intron
Length: 315
Transcript: C11ORF4.aAug05
Length: 315
Transcript: C11ORF4.aAug05
Reaction
Expected peak: 274
61.2M
C11ORF4.F3
C11ORF4.R3
Expected peak: 274
61.2M
C11ORF4.F3
C11ORF4.R3
Reaction
Expected peak: 274
61.2M
C11ORF4.F3
C11ORF4.R3
Expected peak: 274
61.2M
C11ORF4.F3
C11ORF4.R3
Reaction
Expected peak: 274
61.2M
C11ORF4.F3
C11ORF4.R3
Expected peak: 274
61.2M
C11ORF4.F3
C11ORF4.R3
Reaction
Expected peak: 274
61.2M
C11ORF4.F3
C11ORF4.R3
Expected peak: 274
61.2M
C11ORF4.F3
C11ORF4.R3
Exon
Length: 124
Transcript: C11ORF4.bAug05
Length: 124
Transcript: C11ORF4.bAug05
Exon
Length: 372
Transcript: C11ORF4.bAug05
Length: 372
Transcript: C11ORF4.bAug05
Exon
Length: 50
Transcript: C11ORF4.bAug05
Length: 50
Transcript: C11ORF4.bAug05
Exon
Length: 226
Transcript: C11ORF4.bAug05
Length: 226
Transcript: C11ORF4.bAug05
Exon
Length: 129
Transcript: C11ORF4.bAug05
Length: 129
Transcript: C11ORF4.bAug05
Exon
Length: 119
Transcript: C11ORF4.bAug05
Length: 119
Transcript: C11ORF4.bAug05
Exon
Length: 457
Transcript: C11ORF4.bAug05
Length: 457
Transcript: C11ORF4.bAug05
Intron
Length: 1129
Transcript: C11ORF4.bAug05
Length: 1129
Transcript: C11ORF4.bAug05
Intron
Length: 83
Transcript: C11ORF4.bAug05
Length: 83
Transcript: C11ORF4.bAug05
Intron
Length: 706
Transcript: C11ORF4.bAug05
Length: 706
Transcript: C11ORF4.bAug05
Intron
Length: 393
Transcript: C11ORF4.bAug05
Length: 393
Transcript: C11ORF4.bAug05
Intron
Length: 134
Transcript: C11ORF4.bAug05
Length: 134
Transcript: C11ORF4.bAug05
Intron
Length: 315
Transcript: C11ORF4.bAug05
Length: 315
Transcript: C11ORF4.bAug05
Reaction
Expected peak: 124
8.8M
C11ORF4.F3
C11ORF4.R3
Expected peak: 124
8.8M
C11ORF4.F3
C11ORF4.R3
Reaction
Expected peak: 124
8.8M
C11ORF4.F3
C11ORF4.R3
Expected peak: 124
8.8M
C11ORF4.F3
C11ORF4.R3
Reaction
Expected peak: 124
8.8M
C11ORF4.F3
C11ORF4.R3
Expected peak: 124
8.8M
C11ORF4.F3
C11ORF4.R3
Reaction
Expected peak: 124
8.8M
C11ORF4.F3
C11ORF4.R3
Expected peak: 124
8.8M
C11ORF4.F3
C11ORF4.R3
Exon
Length: 118
Transcript: C11ORF4.cAug05
Length: 118
Transcript: C11ORF4.cAug05
Exon
Length: 372
Transcript: C11ORF4.cAug05
Length: 372
Transcript: C11ORF4.cAug05
Exon
Length: 50
Transcript: C11ORF4.cAug05
Length: 50
Transcript: C11ORF4.cAug05
Exon
Length: 226
Transcript: C11ORF4.cAug05
Length: 226
Transcript: C11ORF4.cAug05
Exon
Length: 150
Transcript: C11ORF4.cAug05
Length: 150
Transcript: C11ORF4.cAug05
Exon
Length: 129
Transcript: C11ORF4.cAug05
Length: 129
Transcript: C11ORF4.cAug05
Exon
Length: 235
Transcript: C11ORF4.cAug05
Length: 235
Transcript: C11ORF4.cAug05
Intron
Length: 902
Transcript: C11ORF4.cAug05
Length: 902
Transcript: C11ORF4.cAug05
Intron
Length: 83
Transcript: C11ORF4.cAug05
Length: 83
Transcript: C11ORF4.cAug05
Intron
Length: 706
Transcript: C11ORF4.cAug05
Length: 706
Transcript: C11ORF4.cAug05
Intron
Length: 118
Transcript: C11ORF4.cAug05
Length: 118
Transcript: C11ORF4.cAug05
Intron
Length: 125
Transcript: C11ORF4.cAug05
Length: 125
Transcript: C11ORF4.cAug05
Intron
Length: 568
Transcript: C11ORF4.cAug05
Length: 568
Transcript: C11ORF4.cAug05
Reaction
Expected peak: 274
61.2M
C11ORF4.F3
C11ORF4.R3
Expected peak: 274
61.2M
C11ORF4.F3
C11ORF4.R3
Reaction
Expected peak: 274
61.2M
C11ORF4.F3
C11ORF4.R3
Expected peak: 274
61.2M
C11ORF4.F3
C11ORF4.R3
Reaction
Expected peak: 274
61.2M
C11ORF4.F3
C11ORF4.R3
Expected peak: 274
61.2M
C11ORF4.F3
C11ORF4.R3
Reaction
Expected peak: 274
61.2M
C11ORF4.F3
C11ORF4.R3
Expected peak: 274
61.2M
C11ORF4.F3
C11ORF4.R3
Exon
Length: 816
Transcript: C11ORF4.dAug05
Length: 816
Transcript: C11ORF4.dAug05
Exon
Length: 372
Transcript: C11ORF4.dAug05
Length: 372
Transcript: C11ORF4.dAug05
Exon
Length: 50
Transcript: C11ORF4.dAug05
Length: 50
Transcript: C11ORF4.dAug05
Exon
Length: 226
Transcript: C11ORF4.dAug05
Length: 226
Transcript: C11ORF4.dAug05
Exon
Length: 404
Transcript: C11ORF4.dAug05
Length: 404
Transcript: C11ORF4.dAug05
Exon
Length: 119
Transcript: C11ORF4.dAug05
Length: 119
Transcript: C11ORF4.dAug05
Exon
Length: 74
Transcript: C11ORF4.dAug05
Length: 74
Transcript: C11ORF4.dAug05
Intron
Length: 15848
Transcript: C11ORF4.dAug05
Length: 15848
Transcript: C11ORF4.dAug05
Intron
Length: 83
Transcript: C11ORF4.dAug05
Length: 83
Transcript: C11ORF4.dAug05
Intron
Length: 706
Transcript: C11ORF4.dAug05
Length: 706
Transcript: C11ORF4.dAug05
Intron
Length: 118
Transcript: C11ORF4.dAug05
Length: 118
Transcript: C11ORF4.dAug05
Intron
Length: 134
Transcript: C11ORF4.dAug05
Length: 134
Transcript: C11ORF4.dAug05
Intron
Length: 315
Transcript: C11ORF4.dAug05
Length: 315
Transcript: C11ORF4.dAug05
Reaction
Expected peak: 399
0M
C11ORF4.F3
C11ORF4.R3
Expected peak: 399
0M
C11ORF4.F3
C11ORF4.R3
Reaction
Expected peak: 399
0M
C11ORF4.F3
C11ORF4.R3
Expected peak: 399
0M
C11ORF4.F3
C11ORF4.R3
Reaction
Expected peak: 399
0M
C11ORF4.F3
C11ORF4.R3
Expected peak: 399
0M
C11ORF4.F3
C11ORF4.R3
Reaction
Expected peak: 399
0M
C11ORF4.F3
C11ORF4.R3
Expected peak: 399
0M
C11ORF4.F3
C11ORF4.R3
Exon
Length: 1400
Transcript: C11ORF4.eAug05
Length: 1400
Transcript: C11ORF4.eAug05
Exon
Length: 50
Transcript: C11ORF4.eAug05
Length: 50
Transcript: C11ORF4.eAug05
Exon
Length: 344
Transcript: C11ORF4.eAug05
Length: 344
Transcript: C11ORF4.eAug05
Intron
Length: 83
Transcript: C11ORF4.eAug05
Length: 83
Transcript: C11ORF4.eAug05
Intron
Length: 706
Transcript: C11ORF4.eAug05
Length: 706
Transcript: C11ORF4.eAug05
Exon
Length: 565
Transcript: C11ORF4.fAug05
Length: 565
Transcript: C11ORF4.fAug05
Exon
Length: 372
Transcript: C11ORF4.fAug05
Length: 372
Transcript: C11ORF4.fAug05
Exon
Length: 50
Transcript: C11ORF4.fAug05
Length: 50
Transcript: C11ORF4.fAug05
Exon
Length: 226
Transcript: C11ORF4.fAug05
Length: 226
Transcript: C11ORF4.fAug05
Exon
Length: 26
Transcript: C11ORF4.fAug05
Length: 26
Transcript: C11ORF4.fAug05
Intron
Length: 1129
Transcript: C11ORF4.fAug05
Length: 1129
Transcript: C11ORF4.fAug05
Intron
Length: 83
Transcript: C11ORF4.fAug05
Length: 83
Transcript: C11ORF4.fAug05
Intron
Length: 706
Transcript: C11ORF4.fAug05
Length: 706
Transcript: C11ORF4.fAug05
Intron
Length: 118
Transcript: C11ORF4.fAug05
Length: 118
Transcript: C11ORF4.fAug05
Exon
Length: 72
Transcript: C11ORF4.gAug05
Length: 72
Transcript: C11ORF4.gAug05
Exon
Length: 74
Transcript: C11ORF4.gAug05
Length: 74
Transcript: C11ORF4.gAug05
Exon
Length: 372
Transcript: C11ORF4.gAug05
Length: 372
Transcript: C11ORF4.gAug05
Exon
Length: 50
Transcript: C11ORF4.gAug05
Length: 50
Transcript: C11ORF4.gAug05
Exon
Length: 96
Transcript: C11ORF4.gAug05
Length: 96
Transcript: C11ORF4.gAug05
Intron
Length: 588
Transcript: C11ORF4.gAug05
Length: 588
Transcript: C11ORF4.gAug05
Intron
Length: 10088
Transcript: C11ORF4.gAug05
Length: 10088
Transcript: C11ORF4.gAug05
Intron
Length: 83
Transcript: C11ORF4.gAug05
Length: 83
Transcript: C11ORF4.gAug05
Intron
Length: 980
Transcript: C11ORF4.gAug05
Length: 980
Transcript: C11ORF4.gAug05
Exon
Length: 21
Transcript: C11ORF4.hAug05
Length: 21
Transcript: C11ORF4.hAug05
Exon
Length: 129
Transcript: C11ORF4.hAug05
Length: 129
Transcript: C11ORF4.hAug05
Exon
Length: 119
Transcript: C11ORF4.hAug05
Length: 119
Transcript: C11ORF4.hAug05
Exon
Length: 240
Transcript: C11ORF4.hAug05
Length: 240
Transcript: C11ORF4.hAug05
Intron
Length: 125
Transcript: C11ORF4.hAug05
Length: 125
Transcript: C11ORF4.hAug05
Intron
Length: 134
Transcript: C11ORF4.hAug05
Length: 134
Transcript: C11ORF4.hAug05
Intron
Length: 421
Transcript: C11ORF4.hAug05
Length: 421
Transcript: C11ORF4.hAug05
Exon
Length: 127
Transcript: C11ORF4.iAug05
Length: 127
Transcript: C11ORF4.iAug05
Exon
Length: 372
Transcript: C11ORF4.iAug05
Length: 372
Transcript: C11ORF4.iAug05
Exon
Length: 50
Transcript: C11ORF4.iAug05
Length: 50
Transcript: C11ORF4.iAug05
Exon
Length: 129
Transcript: C11ORF4.iAug05
Length: 129
Transcript: C11ORF4.iAug05
Exon
Length: 112
Transcript: C11ORF4.iAug05
Length: 112
Transcript: C11ORF4.iAug05
Intron
Length: 1129
Transcript: C11ORF4.iAug05
Length: 1129
Transcript: C11ORF4.iAug05
Intron
Length: 83
Transcript: C11ORF4.iAug05
Length: 83
Transcript: C11ORF4.iAug05
Intron
Length: 1325
Transcript: C11ORF4.iAug05
Length: 1325
Transcript: C11ORF4.iAug05
Intron
Length: 134
Transcript: C11ORF4.iAug05
Length: 134
Transcript: C11ORF4.iAug05
Exon
Length: 361
Transcript: C11ORF4.jAug05
Length: 361
Transcript: C11ORF4.jAug05
Exon
Length: 50
Transcript: C11ORF4.jAug05
Length: 50
Transcript: C11ORF4.jAug05
Exon
Length: 37
Transcript: C11ORF4.jAug05
Length: 37
Transcript: C11ORF4.jAug05
Exon
Length: 25
Transcript: C11ORF4.jAug05
Length: 25
Transcript: C11ORF4.jAug05
Intron
Length: 83
Transcript: C11ORF4.jAug05
Length: 83
Transcript: C11ORF4.jAug05
Intron
Length: 895
Transcript: C11ORF4.jAug05
Length: 895
Transcript: C11ORF4.jAug05
Intron
Length: 118
Transcript: C11ORF4.jAug05
Length: 118
Transcript: C11ORF4.jAug05
Exon
Length: 523
Transcript: C11ORF4.kAug05
Length: 523
Transcript: C11ORF4.kAug05
Exon
Length: 225
Transcript: C11ORF4.kAug05
Length: 225
Transcript: C11ORF4.kAug05
Exon
Length: 50
Transcript: C11ORF4.kAug05
Length: 50
Transcript: C11ORF4.kAug05
Exon
Length: 16
Transcript: C11ORF4.kAug05
Length: 16
Transcript: C11ORF4.kAug05
Intron
Length: 1276
Transcript: C11ORF4.kAug05
Length: 1276
Transcript: C11ORF4.kAug05
Intron
Length: 83
Transcript: C11ORF4.kAug05
Length: 83
Transcript: C11ORF4.kAug05
Intron
Length: 706
Transcript: C11ORF4.kAug05
Length: 706
Transcript: C11ORF4.kAug05
Exon
Length: 643
Transcript: C11ORF4.shed1.aAug05
Length: 643
Transcript: C11ORF4.shed1.aAug05
Exon
Length: 372
Transcript: C11ORF4.shed2.aAug05
Length: 372
Transcript: C11ORF4.shed2.aAug05
Exon
Length: 929
Transcript: C11ORF4.shed3.aAug05
Length: 929
Transcript: C11ORF4.shed3.aAug05
Exon
Length: 673
Transcript: C11ORF4.shed4.aAug05
Length: 673
Transcript: C11ORF4.shed4.aAug05
C11ORF4.F3
ACTCCCTGTTCGTCATCTGC
ACTCCCTGTTCGTCATCTGC
C11ORF4.R3
TTGTTCCCCAGGTCATTCAC
TTGTTCCCCAGGTCATTCAC