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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
: C11orf17 CTL W1 13167
- C11orf17-F1 / C11orf17-R1 (CM018586 B15) : Curve | Curve set
- C11orf17-F1 / C11orf17-R1 (CM018586 B15) : Curve | Curve set
Exon
Length: 222
Transcript: ENST00000299576
Length: 222
Transcript: ENST00000299576
Exon
Length: 105
Transcript: ENST00000299576
Length: 105
Transcript: ENST00000299576
Exon
Length: 81
Transcript: ENST00000299576
Length: 81
Transcript: ENST00000299576
Exon
Length: 144
Transcript: ENST00000299576
Length: 144
Transcript: ENST00000299576
Intron
Length: 3154
Transcript: ENST00000299576
Length: 3154
Transcript: ENST00000299576
Intron
Length: 2356
Transcript: ENST00000299576
Length: 2356
Transcript: ENST00000299576
Intron
Length: 1969
Transcript: ENST00000299576
Length: 1969
Transcript: ENST00000299576
Reaction
Expected peak: 252
24.6M
C11orf17-F1
C11orf17-R1
Expected peak: 252
24.6M
C11orf17-F1
C11orf17-R1
Reaction
Expected peak: 252
24.6M
C11orf17-F1
C11orf17-R1
Expected peak: 252
24.6M
C11orf17-F1
C11orf17-R1
Reaction
Expected peak: 252
24.6M
C11orf17-F1
C11orf17-R1
Expected peak: 252
24.6M
C11orf17-F1
C11orf17-R1
Reaction
Expected peak: 252
24.6M
C11orf17-F1
C11orf17-R1
Expected peak: 252
24.6M
C11orf17-F1
C11orf17-R1
Exon
Length: 222
Transcript: ENST00000299576
Length: 222
Transcript: ENST00000299576
Exon
Length: 105
Transcript: ENST00000299576
Length: 105
Transcript: ENST00000299576
Exon
Length: 81
Transcript: ENST00000299576
Length: 81
Transcript: ENST00000299576
Exon
Length: 144
Transcript: ENST00000299576
Length: 144
Transcript: ENST00000299576
Intron
Length: 3154
Transcript: ENST00000299576
Length: 3154
Transcript: ENST00000299576
Intron
Length: 2356
Transcript: ENST00000299576
Length: 2356
Transcript: ENST00000299576
Intron
Length: 1969
Transcript: ENST00000299576
Length: 1969
Transcript: ENST00000299576
Reaction
Expected peak: 252
24.6M
C11orf17-F1
C11orf17-R1
Expected peak: 252
24.6M
C11orf17-F1
C11orf17-R1
Reaction
Expected peak: 252
24.6M
C11orf17-F1
C11orf17-R1
Expected peak: 252
24.6M
C11orf17-F1
C11orf17-R1
Reaction
Expected peak: 252
24.6M
C11orf17-F1
C11orf17-R1
Expected peak: 252
24.6M
C11orf17-F1
C11orf17-R1
Reaction
Expected peak: 252
24.6M
C11orf17-F1
C11orf17-R1
Expected peak: 252
24.6M
C11orf17-F1
C11orf17-R1
Exon
Length: 222
Transcript: ENST00000309357
Length: 222
Transcript: ENST00000309357
Exon
Length: 81
Transcript: ENST00000309357
Length: 81
Transcript: ENST00000309357
Exon
Length: 105
Transcript: ENST00000309357
Length: 105
Transcript: ENST00000309357
Exon
Length: 144
Transcript: ENST00000309357
Length: 144
Transcript: ENST00000309357
Intron
Length: 781
Transcript: ENST00000309357
Length: 781
Transcript: ENST00000309357
Intron
Length: 2292
Transcript: ENST00000309357
Length: 2292
Transcript: ENST00000309357
Intron
Length: 4406
Transcript: ENST00000309357
Length: 4406
Transcript: ENST00000309357
Reaction
Expected peak: 333
9.3M
C11orf17-F1
C11orf17-R1
Expected peak: 333
9.3M
C11orf17-F1
C11orf17-R1
Reaction
Expected peak: 333
9.3M
C11orf17-F1
C11orf17-R1
Expected peak: 333
9.3M
C11orf17-F1
C11orf17-R1
Reaction
Expected peak: 333
9.3M
C11orf17-F1
C11orf17-R1
Expected peak: 333
9.3M
C11orf17-F1
C11orf17-R1
Reaction
Expected peak: 333
9.3M
C11orf17-F1
C11orf17-R1
Expected peak: 333
9.3M
C11orf17-F1
C11orf17-R1
Exon
Length: 222
Transcript: ENST00000309357
Length: 222
Transcript: ENST00000309357
Exon
Length: 81
Transcript: ENST00000309357
Length: 81
Transcript: ENST00000309357
Exon
Length: 105
Transcript: ENST00000309357
Length: 105
Transcript: ENST00000309357
Exon
Length: 144
Transcript: ENST00000309357
Length: 144
Transcript: ENST00000309357
Intron
Length: 781
Transcript: ENST00000309357
Length: 781
Transcript: ENST00000309357
Intron
Length: 2292
Transcript: ENST00000309357
Length: 2292
Transcript: ENST00000309357
Intron
Length: 4406
Transcript: ENST00000309357
Length: 4406
Transcript: ENST00000309357
Reaction
Expected peak: 333
9.3M
C11orf17-F1
C11orf17-R1
Expected peak: 333
9.3M
C11orf17-F1
C11orf17-R1
Reaction
Expected peak: 333
9.3M
C11orf17-F1
C11orf17-R1
Expected peak: 333
9.3M
C11orf17-F1
C11orf17-R1
Reaction
Expected peak: 333
9.3M
C11orf17-F1
C11orf17-R1
Expected peak: 333
9.3M
C11orf17-F1
C11orf17-R1
Reaction
Expected peak: 333
9.3M
C11orf17-F1
C11orf17-R1
Expected peak: 333
9.3M
C11orf17-F1
C11orf17-R1
Exon
Length: 70
Transcript: ENST00000309377
Length: 70
Transcript: ENST00000309377
Exon
Length: 228
Transcript: ENST00000309377
Length: 228
Transcript: ENST00000309377
Exon
Length: 81
Transcript: ENST00000309377
Length: 81
Transcript: ENST00000309377
Exon
Length: 105
Transcript: ENST00000309377
Length: 105
Transcript: ENST00000309377
Exon
Length: 81
Transcript: ENST00000309377
Length: 81
Transcript: ENST00000309377
Exon
Length: 740
Transcript: ENST00000309377
Length: 740
Transcript: ENST00000309377
Intron
Length: 220
Transcript: ENST00000309377
Length: 220
Transcript: ENST00000309377
Intron
Length: 781
Transcript: ENST00000309377
Length: 781
Transcript: ENST00000309377
Intron
Length: 2292
Transcript: ENST00000309377
Length: 2292
Transcript: ENST00000309377
Intron
Length: 2356
Transcript: ENST00000309377
Length: 2356
Transcript: ENST00000309377
Intron
Length: 1969
Transcript: ENST00000309377
Length: 1969
Transcript: ENST00000309377
Reaction
Expected peak: 333
9.3M
C11orf17-F1
C11orf17-R1
Expected peak: 333
9.3M
C11orf17-F1
C11orf17-R1
Reaction
Expected peak: 333
9.3M
C11orf17-F1
C11orf17-R1
Expected peak: 333
9.3M
C11orf17-F1
C11orf17-R1
Reaction
Expected peak: 333
9.3M
C11orf17-F1
C11orf17-R1
Expected peak: 333
9.3M
C11orf17-F1
C11orf17-R1
Reaction
Expected peak: 333
9.3M
C11orf17-F1
C11orf17-R1
Expected peak: 333
9.3M
C11orf17-F1
C11orf17-R1
Exon
Length: 70
Transcript: ENST00000309377
Length: 70
Transcript: ENST00000309377
Exon
Length: 228
Transcript: ENST00000309377
Length: 228
Transcript: ENST00000309377
Exon
Length: 81
Transcript: ENST00000309377
Length: 81
Transcript: ENST00000309377
Exon
Length: 105
Transcript: ENST00000309377
Length: 105
Transcript: ENST00000309377
Exon
Length: 81
Transcript: ENST00000309377
Length: 81
Transcript: ENST00000309377
Exon
Length: 740
Transcript: ENST00000309377
Length: 740
Transcript: ENST00000309377
Intron
Length: 220
Transcript: ENST00000309377
Length: 220
Transcript: ENST00000309377
Intron
Length: 781
Transcript: ENST00000309377
Length: 781
Transcript: ENST00000309377
Intron
Length: 2292
Transcript: ENST00000309377
Length: 2292
Transcript: ENST00000309377
Intron
Length: 2356
Transcript: ENST00000309377
Length: 2356
Transcript: ENST00000309377
Intron
Length: 1969
Transcript: ENST00000309377
Length: 1969
Transcript: ENST00000309377
Reaction
Expected peak: 333
9.3M
C11orf17-F1
C11orf17-R1
Expected peak: 333
9.3M
C11orf17-F1
C11orf17-R1
Reaction
Expected peak: 333
9.3M
C11orf17-F1
C11orf17-R1
Expected peak: 333
9.3M
C11orf17-F1
C11orf17-R1
Reaction
Expected peak: 333
9.3M
C11orf17-F1
C11orf17-R1
Expected peak: 333
9.3M
C11orf17-F1
C11orf17-R1
Reaction
Expected peak: 333
9.3M
C11orf17-F1
C11orf17-R1
Expected peak: 333
9.3M
C11orf17-F1
C11orf17-R1
C11orf17-R1
GACCATTCCCTATGTCCAAG
GACCATTCCCTATGTCCAAG
C11orf17-F1
CTCTAGAAGTGCTGGAGAG
CTCTAGAAGTGCTGGAGAG