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Home Public data LGFUS Public Data PRPF mutations are associated with generalized defects in spliceosome formation and pre-mRNA splicing in patients with retinitis pigmentosa Patient screen Tanackovic et al. permalink
Patient screen Tanackovic et al. ⚙
Transcript map : BCL2L11 CTL W1 13167
Exon
Length: 260
Transcript: BCL2L11.aAug05
Exon
Length: 407
Transcript: BCL2L11.aAug05
Exon
Length: 104
Transcript: BCL2L11.aAug05
Exon
Length: 4315
Transcript: BCL2L11.aAug05
Intron
Length: 2544
Transcript: BCL2L11.aAug05
Intron
Length: 25904
Transcript: BCL2L11.aAug05
Intron
Length: 13985
Transcript: BCL2L11.aAug05
Reaction
Expected peak: 400
0.6M
113317
BCL2L11-4
Exon
Length: 394
Transcript: BCL2L11.bAug05
Exon
Length: 104
Transcript: BCL2L11.bAug05
Exon
Length: 132
Transcript: BCL2L11.bAug05
Exon
Length: 99
Transcript: BCL2L11.bAug05
Intron
Length: 25904
Transcript: BCL2L11.bAug05
Intron
Length: 11271
Transcript: BCL2L11.bAug05
Intron
Length: 2582
Transcript: BCL2L11.bAug05
Reaction
Expected peak: 400
0.6M
113317
BCL2L11-4
Exon
Length: 400
Transcript: BCL2L11.cAug05
Exon
Length: 104
Transcript: BCL2L11.cAug05
Exon
Length: 125
Transcript: BCL2L11.cAug05
Exon
Length: 2874
Transcript: BCL2L11.cAug05
Intron
Length: 25904
Transcript: BCL2L11.cAug05
Intron
Length: 3632
Transcript: BCL2L11.cAug05
Intron
Length: 10228
Transcript: BCL2L11.cAug05
Reaction
Expected peak: 400
0.6M
113317
BCL2L11-4
Exon
Length: 130
Transcript: BCL2L11.dAug05
Exon
Length: 90
Transcript: BCL2L11.dAug05
Exon
Length: 104
Transcript: BCL2L11.dAug05
Exon
Length: 2874
Transcript: BCL2L11.dAug05
Intron
Length: 180
Transcript: BCL2L11.dAug05
Intron
Length: 25904
Transcript: BCL2L11.dAug05
Intron
Length: 13985
Transcript: BCL2L11.dAug05
Reaction
Expected peak: 220
9.3M
113317
BCL2L11-4
Exon
Length: 394
Transcript: BCL2L11.eAug05
Exon
Length: 125
Transcript: BCL2L11.eAug05
Exon
Length: 99
Transcript: BCL2L11.eAug05
Intron
Length: 29640
Transcript: BCL2L11.eAug05
Intron
Length: 10228
Transcript: BCL2L11.eAug05
Exon
Length: 400
Transcript: BCL2L11.fAug05
Exon
Length: 33
Transcript: BCL2L11.fAug05
Exon
Length: 104
Transcript: BCL2L11.fAug05
Exon
Length: 2874
Transcript: BCL2L11.fAug05
Intron
Length: 20348
Transcript: BCL2L11.fAug05
Intron
Length: 5523
Transcript: BCL2L11.fAug05
Intron
Length: 13985
Transcript: BCL2L11.fAug05
Reaction
Expected peak: 433
0.6M
113317
BCL2L11-4
Exon
Length: 400
Transcript: BCL2L11.gAug05
Exon
Length: 2874
Transcript: BCL2L11.gAug05
Intron
Length: 39993
Transcript: BCL2L11.gAug05
Exon
Length: 53
Transcript: BCL2L11.hAug05
Exon
Length: 137
Transcript: BCL2L11.hAug05
Exon
Length: 90
Transcript: BCL2L11.hAug05
Exon
Length: 220
Transcript: BCL2L11.hAug05
Intron
Length: 809
Transcript: BCL2L11.hAug05
Intron
Length: 180
Transcript: BCL2L11.hAug05
Intron
Length: 4487
Transcript: BCL2L11.hAug05
Exon
Length: 130
Transcript: BCL2L11.iAug05
Exon
Length: 116
Transcript: BCL2L11.iAug05
Exon
Length: 104
Transcript: BCL2L11.iAug05
Exon
Length: 2874
Transcript: BCL2L11.iAug05
Intron
Length: 6262
Transcript: BCL2L11.iAug05
Intron
Length: 19796
Transcript: BCL2L11.iAug05
Intron
Length: 13985
Transcript: BCL2L11.iAug05
Reaction
Expected peak: 246
9.3M
113317
BCL2L11-4
Exon
Length: 130
Transcript: BCL2L11.jAug05
Exon
Length: 90
Transcript: BCL2L11.jAug05
Exon
Length: 104
Transcript: BCL2L11.jAug05
Exon
Length: 125
Transcript: BCL2L11.jAug05
Exon
Length: 2874
Transcript: BCL2L11.jAug05
Intron
Length: 180
Transcript: BCL2L11.jAug05
Intron
Length: 25904
Transcript: BCL2L11.jAug05
Intron
Length: 3632
Transcript: BCL2L11.jAug05
Intron
Length: 10228
Transcript: BCL2L11.jAug05
Reaction
Expected peak: 220
9.3M
113317
BCL2L11-4
Exon
Length: 124
Transcript: BCL2L11.kAug05
Exon
Length: 104
Transcript: BCL2L11.kAug05
Exon
Length: 99
Transcript: BCL2L11.kAug05
Intron
Length: 26174
Transcript: BCL2L11.kAug05
Intron
Length: 13985
Transcript: BCL2L11.kAug05
Reaction
Expected peak: 130
4.4M
113317
BCL2L11-4
Exon
Length: 103
Transcript: BCL2L11.lAug05
Exon
Length: 90
Transcript: BCL2L11.lAug05
Exon
Length: 79
Transcript: BCL2L11.lAug05
Exon
Length: 33
Transcript: BCL2L11.lAug05
Exon
Length: 335
Transcript: BCL2L11.lAug05
Intron
Length: 180
Transcript: BCL2L11.lAug05
Intron
Length: 18173
Transcript: BCL2L11.lAug05
Intron
Length: 2096
Transcript: BCL2L11.lAug05
Intron
Length: 1428
Transcript: BCL2L11.lAug05
Exon
Length: 124
Transcript: BCL2L11.mAug05
Exon
Length: 104
Transcript: BCL2L11.mAug05
Exon
Length: 72
Transcript: BCL2L11.mAug05
Exon
Length: 125
Transcript: BCL2L11.mAug05
Exon
Length: 99
Transcript: BCL2L11.mAug05
Intron
Length: 26174
Transcript: BCL2L11.mAug05
Intron
Length: 1674
Transcript: BCL2L11.mAug05
Intron
Length: 1886
Transcript: BCL2L11.mAug05
Intron
Length: 10228
Transcript: BCL2L11.mAug05
Reaction
Expected peak: 130
4.4M
113317
BCL2L11-4
Exon
Length: 130
Transcript: BCL2L11.nAug05
Exon
Length: 104
Transcript: BCL2L11.nAug05
Exon
Length: 125
Transcript: BCL2L11.nAug05
Exon
Length: 2874
Transcript: BCL2L11.nAug05
Intron
Length: 26174
Transcript: BCL2L11.nAug05
Intron
Length: 3632
Transcript: BCL2L11.nAug05
Intron
Length: 10228
Transcript: BCL2L11.nAug05
Reaction
Expected peak: 130
4.4M
113317
BCL2L11-4
Exon
Length: 130
Transcript: BCL2L11.pAug05
Exon
Length: 2874
Transcript: BCL2L11.pAug05
Intron
Length: 40263
Transcript: BCL2L11.pAug05
Exon
Length: 27
Transcript: BCL2L11.qAug05
Exon
Length: 33
Transcript: BCL2L11.qAug05
Exon
Length: 104
Transcript: BCL2L11.qAug05
Exon
Length: 132
Transcript: BCL2L11.qAug05
Exon
Length: 220
Transcript: BCL2L11.qAug05
Intron
Length: 20348
Transcript: BCL2L11.qAug05
Intron
Length: 5523
Transcript: BCL2L11.qAug05
Intron
Length: 11271
Transcript: BCL2L11.qAug05
Intron
Length: 2582
Transcript: BCL2L11.qAug05
Reaction
Expected peak: 433
0.6M
113317
BCL2L11-4
Exon
Length: 21
Transcript: BCL2L11.rAug05
Exon
Length: 104
Transcript: BCL2L11.rAug05
Exon
Length: 125
Transcript: BCL2L11.rAug05
Exon
Length: 99
Transcript: BCL2L11.rAug05
Intron
Length: 26277
Transcript: BCL2L11.rAug05
Intron
Length: 3632
Transcript: BCL2L11.rAug05
Intron
Length: 10228
Transcript: BCL2L11.rAug05
Exon
Length: 398
Transcript: BCL2L11.shed1.aAug05
Exon
Length: 128
Transcript: BCL2L11.shed2.aAug05
BCL2L11-4
CCTCCTTGCATAGTAAGCGT
113317
TACCTCCCTACAGACAGAG

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