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. 2014 Aug 14;15:98. doi: 10.1186/s12881-014-0098-1

Table 2.

Validation of the selected 21 alternative splicing events in the whole cohort

Gene Forward Primer Reverse Primer all PDB vs HD
 all PDB vs HD wt
PDB wt vs HD wt
PDB wt vs HD P392L
PDB wt vs PDB P392L
HD wt vs HD P392L
(n =19 vs 16)
(n =19 vs 11)
(n =12 vs 11)
(n =12 vs 5)
(n =12 vs 7)
(n =11 vs 5)
p* q p q p q p q p q p q
LGALS8
ACACTCTGGGCATTTATGGC
 TTTAACGACGACAGTTCGTCC
 0.00001
 0.0002
 0.0005
 0.009
 0.0004
 0.004
 0.001
 0.008
 0.64
 0.55
 0.71
 0.55
USP4
AGCTATTCAACATCCCTGCG
 GGTGGCTCCTGACAATTATACG
 0.0002
 0.0012
 0.0019
 0.013
 0.002
 0.006
 0.033
 0.054
 0.73
 0.55
 0.48
 0.51
CASC4
GAGGTGGTGATGCAGGGATGC
 GATCCATTTGAAGCTCTCGTTCTTC
 0.001
 0.004
 0.001
 0.009
 0.001
 0.004
 0.050
 0.07
 0.15
 0.27
 0.22
 0.39
RHOT1
TCCACCACAAGCCTTCACTT
 GTGCACATACAGCGTAACCG
 0.001
 0.004
 0.018
 0.061
 0.021
 0.042
 0.003
 0.0019
 0.88
 0.59
 0.89
 0.66
PIDD
ATGTTCGAGGGCGAAGAGTT
 CGCCACGGTAGAAGGACAC
 0.01
 0.03
 0.03
 0.08
 0.03
 0.04
 0.03
 0.05
 0.68
 0.55
 0.62
 0.51
LGALS9
GTGATGGTGAACGGGATCCT
 GTTGGCAGGCCACACGCC
 0.02
 0.03
 0.053
 0.11
 0.14
 0.18
 0.10
 0.12
 0.38
 0.42
 0.81
 0.68
TBC1D25
AATGTGAGAGCTTCTTGCCG
 AGGATGGACTGTGTAAAGGGC
 0.03
 0.05
 0.04
 0.10
 0.01
 0.02
 0.02
 0.05
 0.04
 0.24
 0.35
 0.39
THAP1
AGGACAAGCCCGTTTCTTTC
 TCCAATAGCAGCATCAACCTG
 0.04
 0.09
 0.01
 0.051
 0.01
 0.04
 0.43
 0.44
 0.53
 0.49
 0.27
 0.39
ABTB1
GAGCAGCGAGACGTGGAG
 GCTTGTAATCGCGTAGAGCC
 0.09
 0.33
 0.01
 0.057
 0.02
 0.08
 0.56
 0.44
 0.12
 0.27
 0.08
 0.39
WARS
AGCGTGACCAGTGGCCAC
 GCCTTTTGCACTGCTTGTCT
 0.28
 0.39
 0.51
 0.67
 0.84
 0.85
 0.48
 0.44
 0.15
 0.27
 0.50
 0.55
PIDD
CTGAGCTTGGACCTGTACCC
 AGGCCACTCAGACCAGCG
 0.23
 0.39
 0.42
 0.65
 0.47
 0.59
 0.73
 0.47
 0.03
 0.24
 0.27
 0.39
METTL13
CATGCGTGCGTTTGTCGT
 ATGTCGATGTTCACTATATCCCG
 0.42
 0.56
 0.78
 0.87
 0.50
 0.50
 0.01
 0.05
 0.11
 0.27
 0.29
 0.39
L3MBTL
CCAAGTGGACCATCGATGAG
 AGCAAATGAGTGGGTAGAGAGC
 0.34
 0.56
 0.22
 0.43
 0.24
 0.49
 1.00
 0.56
 0.82
 0.59
 0.22
 0.39
BTC
ACCACCACACAATCAAAGCG
 TTACGACGTTTCCGAAGAGG
 0.41
 0.56
 0.57
 0.70
 0.80
 0.79
 0.75
 0.47
 0.19
 0.29
 0.51
 0.51
NLRP12
TCAGTGTGAACCAGAGCCTG
 CAGGTAAAGGTCGGTCAAGG
 0.41
 0.56
 0.80
 0.87
 0.38
 0.50
 0.03
 0.05
 0.22
 0.29
 0.25
 0.39
CASC4
GCTCAAACTTGGACAGTGAACC
 GCAGGATCCATTTGAAGCTC
 0.66
 0.92
 0.42
 0.65
 0.24
 0.48
 0.87
 0.52
 0.37
 0.42
 0.21
 0.39
ABI1
AGTTCTGGATGATGTGGGCC
 TGGCGGTTTCTGAGTAGGAGGA
 0.85
 0.94
 0.46
 0.65
 0.37
 0.50
 0.52
 0.44
 0.48
 0.49
 0.20
 0.39
RAB3IP
TGGGATTACAACCTATCCGG
 CCCTGCTGAATGTATCGAATG
 0.89
 0.94
 0.44
 0.65
 0.50
 0.53
 0.44
 0.44
 0.98
 0.63
 0.24
 0.39
PRMT2
GCTCCTGGAAAGGACCGTC
 TTAGGCTCTGCCTCATAACTGC
 0.85
 0.97
 0.93
 0.87
 0.93
 0.85
 0.70
 0.47
 n/a
 n/a
 0.28
 0.39
BCL2L12
TCCTAGCTGCCTTCCTTAG
 GTATGGCTTCCTTCTCTGTC
 0.87
 0.92
 0.86
 0.87
 0.48
 0.61
 0.58
 0.44
 0.14
 0.27
 0.95
 0.68
BCL2L15 TTGAGGAACAAACGGAATGC AGCTAAGCTGGAATCCTGAGC 0.98 0.98 0.91 0.87 0.87 0.82 n/a n/a n/a n/a n/a n/a

*Student’s t-test of Ψ (PSI) values for each AS event in each group (p-value) with a correction for multiple testing using the false discovery rate (q-value).

HDwt healthy donors exempt from SQSTM1/p62 mutation (n=11); HDP392L healthy donors carrying p62P392L (n=5); PBD (Paget’s disease of bone); PBDwt patients exempt from SQSTM1/p62 mutation (n=12); PDBP392L patients carrying the p62P392L (n=7). n/a: missing data (inadequate RNA samples).