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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
: BCL2L1 CTL W1 13167
- BCL2L1.u.f.5 / BCL2L1.b.r.24 (CM018586 L21) : Curve | Curve set
- BCL2L1.u.f.5 / BCL2L1.b.r.24 (CM018586 L21) : Curve | Curve set
- bcl2l1.f.2 / bcl2l1.r.2 (CM018586 B1) : Curve | Curve set
Exon
Length: 265
Transcript: BCL2L1.aAug05
Length: 265
Transcript: BCL2L1.aAug05
Exon
Length: 676
Transcript: BCL2L1.aAug05
Length: 676
Transcript: BCL2L1.aAug05
Exon
Length: 332
Transcript: BCL2L1.aAug05
Length: 332
Transcript: BCL2L1.aAug05
Intron
Length: 1404
Transcript: BCL2L1.aAug05
Length: 1404
Transcript: BCL2L1.aAug05
Intron
Length: 55568
Transcript: BCL2L1.aAug05
Length: 55568
Transcript: BCL2L1.aAug05
Reaction
Expected peak: 382
64.1M
bcl2l1.f.2
bcl2l1.r.2
Expected peak: 382
64.1M
bcl2l1.f.2
bcl2l1.r.2
Exon
Length: 89
Transcript: BCL2L1.bAug05
Length: 89
Transcript: BCL2L1.bAug05
Exon
Length: 676
Transcript: BCL2L1.bAug05
Length: 676
Transcript: BCL2L1.bAug05
Exon
Length: 332
Transcript: BCL2L1.bAug05
Length: 332
Transcript: BCL2L1.bAug05
Exon
Length: 73
Transcript: BCL2L1.bAug05
Length: 73
Transcript: BCL2L1.bAug05
Intron
Length: 1533
Transcript: BCL2L1.bAug05
Length: 1533
Transcript: BCL2L1.bAug05
Intron
Length: 55568
Transcript: BCL2L1.bAug05
Length: 55568
Transcript: BCL2L1.bAug05
Intron
Length: 1222
Transcript: BCL2L1.bAug05
Length: 1222
Transcript: BCL2L1.bAug05
Reaction
Expected peak: 382
64.1M
bcl2l1.f.2
bcl2l1.r.2
Expected peak: 382
64.1M
bcl2l1.f.2
bcl2l1.r.2
Exon
Length: 482
Transcript: BCL2L1.cAug05
Length: 482
Transcript: BCL2L1.cAug05
Exon
Length: 676
Transcript: BCL2L1.cAug05
Length: 676
Transcript: BCL2L1.cAug05
Exon
Length: 1627
Transcript: BCL2L1.cAug05
Length: 1627
Transcript: BCL2L1.cAug05
Intron
Length: 287
Transcript: BCL2L1.cAug05
Length: 287
Transcript: BCL2L1.cAug05
Intron
Length: 55568
Transcript: BCL2L1.cAug05
Length: 55568
Transcript: BCL2L1.cAug05
Reaction
Expected peak: 169
20.6M
BCL2L1.u.f.5
BCL2L1.b.r.24
Expected peak: 169
20.6M
BCL2L1.u.f.5
BCL2L1.b.r.24
Reaction
Expected peak: 169
20.6M
BCL2L1.u.f.5
BCL2L1.b.r.24
Expected peak: 169
20.6M
BCL2L1.u.f.5
BCL2L1.b.r.24
Reaction
Expected peak: 169
20.6M
BCL2L1.u.f.5
BCL2L1.b.r.24
Expected peak: 169
20.6M
BCL2L1.u.f.5
BCL2L1.b.r.24
Reaction
Expected peak: 169
20.6M
BCL2L1.u.f.5
BCL2L1.b.r.24
Expected peak: 169
20.6M
BCL2L1.u.f.5
BCL2L1.b.r.24
Reaction
Expected peak: 382
64.1M
bcl2l1.f.2
bcl2l1.r.2
Expected peak: 382
64.1M
bcl2l1.f.2
bcl2l1.r.2
Exon
Length: 281
Transcript: BCL2L1.dAug05
Length: 281
Transcript: BCL2L1.dAug05
Exon
Length: 694
Transcript: BCL2L1.dAug05
Length: 694
Transcript: BCL2L1.dAug05
Exon
Length: 1638
Transcript: BCL2L1.dAug05
Length: 1638
Transcript: BCL2L1.dAug05
Intron
Length: 269
Transcript: BCL2L1.dAug05
Length: 269
Transcript: BCL2L1.dAug05
Intron
Length: 55568
Transcript: BCL2L1.dAug05
Length: 55568
Transcript: BCL2L1.dAug05
Reaction
Expected peak: 187
33.5M
BCL2L1.u.f.5
BCL2L1.b.r.24
Expected peak: 187
33.5M
BCL2L1.u.f.5
BCL2L1.b.r.24
Reaction
Expected peak: 187
33.5M
BCL2L1.u.f.5
BCL2L1.b.r.24
Expected peak: 187
33.5M
BCL2L1.u.f.5
BCL2L1.b.r.24
Reaction
Expected peak: 187
33.5M
BCL2L1.u.f.5
BCL2L1.b.r.24
Expected peak: 187
33.5M
BCL2L1.u.f.5
BCL2L1.b.r.24
Reaction
Expected peak: 187
33.5M
BCL2L1.u.f.5
BCL2L1.b.r.24
Expected peak: 187
33.5M
BCL2L1.u.f.5
BCL2L1.b.r.24
Reaction
Expected peak: 382
64.1M
bcl2l1.f.2
bcl2l1.r.2
Expected peak: 382
64.1M
bcl2l1.f.2
bcl2l1.r.2
Exon
Length: 220
Transcript: BCL2L1.eAug05
Length: 220
Transcript: BCL2L1.eAug05
Exon
Length: 694
Transcript: BCL2L1.eAug05
Length: 694
Transcript: BCL2L1.eAug05
Exon
Length: 157
Transcript: BCL2L1.eAug05
Length: 157
Transcript: BCL2L1.eAug05
Exon
Length: 712
Transcript: BCL2L1.eAug05
Length: 712
Transcript: BCL2L1.eAug05
Intron
Length: 1386
Transcript: BCL2L1.eAug05
Length: 1386
Transcript: BCL2L1.eAug05
Intron
Length: 54507
Transcript: BCL2L1.eAug05
Length: 54507
Transcript: BCL2L1.eAug05
Intron
Length: 904
Transcript: BCL2L1.eAug05
Length: 904
Transcript: BCL2L1.eAug05
Reaction
Expected peak: 539
1.6M
bcl2l1.f.2
bcl2l1.r.2
Expected peak: 539
1.6M
bcl2l1.f.2
bcl2l1.r.2
Exon
Length: 88
Transcript: BCL2L1.fAug05
Length: 88
Transcript: BCL2L1.fAug05
Exon
Length: 694
Transcript: BCL2L1.fAug05
Length: 694
Transcript: BCL2L1.fAug05
Intron
Length: 1515
Transcript: BCL2L1.fAug05
Length: 1515
Transcript: BCL2L1.fAug05
Exon
Length: 120
Transcript: BCL2L1.gAug05
Length: 120
Transcript: BCL2L1.gAug05
Exon
Length: 676
Transcript: BCL2L1.gAug05
Length: 676
Transcript: BCL2L1.gAug05
Intron
Length: 86
Transcript: BCL2L1.gAug05
Length: 86
Transcript: BCL2L1.gAug05
Reaction
Expected peak: 370
0M
BCL2L1.u.f.5
BCL2L1.b.r.24
Expected peak: 370
0M
BCL2L1.u.f.5
BCL2L1.b.r.24
Reaction
Expected peak: 370
0M
BCL2L1.u.f.5
BCL2L1.b.r.24
Expected peak: 370
0M
BCL2L1.u.f.5
BCL2L1.b.r.24
Reaction
Expected peak: 370
0M
BCL2L1.u.f.5
BCL2L1.b.r.24
Expected peak: 370
0M
BCL2L1.u.f.5
BCL2L1.b.r.24
Reaction
Expected peak: 370
0M
BCL2L1.u.f.5
BCL2L1.b.r.24
Expected peak: 370
0M
BCL2L1.u.f.5
BCL2L1.b.r.24
Exon
Length: 1026
Transcript: BCL2L1.hAug05
Length: 1026
Transcript: BCL2L1.hAug05
Exon
Length: 505
Transcript: BCL2L1.hAug05
Length: 505
Transcript: BCL2L1.hAug05
Exon
Length: 1627
Transcript: BCL2L1.hAug05
Length: 1627
Transcript: BCL2L1.hAug05
Intron
Length: 269
Transcript: BCL2L1.hAug05
Length: 269
Transcript: BCL2L1.hAug05
Intron
Length: 55757
Transcript: BCL2L1.hAug05
Length: 55757
Transcript: BCL2L1.hAug05
Reaction
Expected peak: 187
33.5M
BCL2L1.u.f.5
BCL2L1.b.r.24
Expected peak: 187
33.5M
BCL2L1.u.f.5
BCL2L1.b.r.24
Reaction
Expected peak: 187
33.5M
BCL2L1.u.f.5
BCL2L1.b.r.24
Expected peak: 187
33.5M
BCL2L1.u.f.5
BCL2L1.b.r.24
Reaction
Expected peak: 187
33.5M
BCL2L1.u.f.5
BCL2L1.b.r.24
Expected peak: 187
33.5M
BCL2L1.u.f.5
BCL2L1.b.r.24
Reaction
Expected peak: 187
33.5M
BCL2L1.u.f.5
BCL2L1.b.r.24
Expected peak: 187
33.5M
BCL2L1.u.f.5
BCL2L1.b.r.24
Reaction
Expected peak: 193
14.4M
bcl2l1.f.2
bcl2l1.r.2
Expected peak: 193
14.4M
bcl2l1.f.2
bcl2l1.r.2
Exon
Length: 137
Transcript: BCL2L1.iAug05
Length: 137
Transcript: BCL2L1.iAug05
Exon
Length: 883
Transcript: BCL2L1.iAug05
Length: 883
Transcript: BCL2L1.iAug05
Intron
Length: 53596
Transcript: BCL2L1.iAug05
Length: 53596
Transcript: BCL2L1.iAug05
Exon
Length: 105
Transcript: BCL2L1.jAug05
Length: 105
Transcript: BCL2L1.jAug05
Exon
Length: 276
Transcript: BCL2L1.jAug05
Length: 276
Transcript: BCL2L1.jAug05
Intron
Length: 95
Transcript: BCL2L1.jAug05
Length: 95
Transcript: BCL2L1.jAug05
Reaction
Expected peak: 361
0M
BCL2L1.u.f.5
BCL2L1.b.r.24
Expected peak: 361
0M
BCL2L1.u.f.5
BCL2L1.b.r.24
Reaction
Expected peak: 361
0M
BCL2L1.u.f.5
BCL2L1.b.r.24
Expected peak: 361
0M
BCL2L1.u.f.5
BCL2L1.b.r.24
Reaction
Expected peak: 361
0M
BCL2L1.u.f.5
BCL2L1.b.r.24
Expected peak: 361
0M
BCL2L1.u.f.5
BCL2L1.b.r.24
Reaction
Expected peak: 361
0M
BCL2L1.u.f.5
BCL2L1.b.r.24
Expected peak: 361
0M
BCL2L1.u.f.5
BCL2L1.b.r.24
Exon
Length: 387
Transcript: BCL2L1.shed1.aAug05
Length: 387
Transcript: BCL2L1.shed1.aAug05
Exon
Length: 1205
Transcript: BCL2L1.shed2.aAug05
Length: 1205
Transcript: BCL2L1.shed2.aAug05
Reaction
Expected peak: 456
0M
BCL2L1.u.f.5
BCL2L1.b.r.24
Expected peak: 456
0M
BCL2L1.u.f.5
BCL2L1.b.r.24
Reaction
Expected peak: 456
0M
BCL2L1.u.f.5
BCL2L1.b.r.24
Expected peak: 456
0M
BCL2L1.u.f.5
BCL2L1.b.r.24
Reaction
Expected peak: 456
0M
BCL2L1.u.f.5
BCL2L1.b.r.24
Expected peak: 456
0M
BCL2L1.u.f.5
BCL2L1.b.r.24
Reaction
Expected peak: 456
0M
BCL2L1.u.f.5
BCL2L1.b.r.24
Expected peak: 456
0M
BCL2L1.u.f.5
BCL2L1.b.r.24
BCL2L1.u.f.5
TCCTCTCCCGACCTGTGATA
TCCTCTCCCGACCTGTGATA
bcl2l1.r.2
GACTGAAGAGTGAGCCCAGC
GACTGAAGAGTGAGCCCAGC
bcl2l1.f.2
TTCAGTGACCTGACATCCCA
TTCAGTGACCTGACATCCCA
BCL2L1.b.r.24
CTCAACCAGTCCATTGTCCA
CTCAACCAGTCCATTGTCCA