Compilation of aberrant splicing phenomena.
# of EX
represents the total number of exons in each gene. SS indicates the
5' or 3' splice site affected by mutations. IVS represents the
position number of mutated introns. When mutations were observed within
exon sequences, the nearest introns are noted. Change indicates
description of each mutation, for example, G1T indicates that the
original nucleotide G at position +1 was changed for A; ins[+2T]
indicates that the nucleotide T was inserted at position +2;
del[-29:+1] indicates that nucleotides at positions from -29 to +1
were deleted; TTT-17:-15AAA indicates that the sequence TTT at
positions from -17 to -15 was changed for the sequence AAA.
Result(major) and Result(minor) indicate the resultant aberrant
splicing pattern, for example, ES[8] indicates that the eighth exon
was skipped; IR[7] indicates that the seventh intron was retained;
C5[+88] indicates that a cryptic 5' splice site was activated at
position +88; N3[-17] indicates that a new 3' splice site was
activated at position -17. In some cases, comments are added, for
example, EXP indicates that the result was not derived from direct
analysis of the cDNA sequence. A typical case is that a portion of
the mutated gene was analyzed using transfection into cultured cells.
Similarly, induced indicates that an aberrant splicing was induced
by artificial mutagenesis. Ref. indicates the reference number.
| Gene
| # of EX | SS | IVS | Change
| Result (major)
| Result (minor); Comments | Ref.
|
| mitochondrial acetoacetyl-coenzyme A thiolase (T2)
| 12
| 5 | 8 | G1T | ES[8] | | 1
|
| 3 | 10 | A-2C | ES[11] | | 1
|
| medium-chain acyl-CoA dehydrogenase (MCAD) | 12
| ? | ? | ? | (nothing?) | ES[complex] | 2
|
| adenine phosphoribosyl-transferase (APRT) | 5
| 5 | 4 | ins[+2 (or3) T ] | ES[4] | | 3
|
| adenosine deaminase (ADA) | 12
| ? | ? | ? | ES[4] | half | 4
|
| ? | ? | ? | IR[7] or ES[7] | | 4
|
| serum albumin | 15
| 3 | 6 | A-2G | ?(no mRNA?) | | 5
|
| 5 | 14 | del[-29:+1] & ins[-4 AAAA T] | ES[14]
| | 6
|
| serum albumin (rat) | 15
| 5 | HI | del[+5:+11] | ES[H] | ES[G&H or H&I] | 7 8
|
| fructose 1-phosphate aldolase (aldolase B) | 9
| 3 | 8 | del[-1:+6] & ins[+2G] | ? | | 9
|
| androgen receptor | 8
| 5 | 4 | G1T | C5[-123] | | 10
|
| apolipoprotein A-II (apo A-II) | 4
| 5 | 3 | G1A | ? | | 11
|
| apolipoprotein C-II | 4
| 5 | 2 | G1C | ? | | 12
|
| apolipoprotein E | 4
| 3 | 3 | A-2G | C3[-53] or IR[3] |
| 13
|
| (argininosuccinate lyase) | 16
| ? | ? | (nothing?) | (ES[7]) | 5-10% usually
| 14
|
| argininosuccinate synthetase | 16
| 3 | 15 | G-1C | C3[+7]
| C3[+395] or IR[15]
| 15 16
|
| ? | ? | ? | ES[7] | | 15
|
| ? | ? | ? | ES[13] | | 15
|
| placental aromatase (P-450AROM) | 10
| 5 | 6 | T2C | C5[+88] | | 17, 18
|
| branched chain alpha-keto acid dehydrogenase (E1alpha) | 9?
| ? | ? | ? | ES[6] | | 19
|
| branched chain alpha-keto acid dehydrogenase
dihydrolipoyl transacylase (E2) | >11
| 3 | 4 | TTT-17:-15 AAA | N3[-17] |
| 20
|
| 5 | 8 | G-1A(1002) | ES[8] | ES[8:10]
| 21
|
| 5 | 8 | del[-1 (or1) G] | ES[8]! |
| 22
|
| ? | ? | ? | ES[multiple]? | | 23
|
| CAD (CHO cell) | ~37
| 3 | 4 | G-1A | IR[4], ES[5] |
| 24
|
| carbonic anhydrase II | >7
| 3 | 5 | G-1C | ? | (half activity?)
| 25
|
| (alpha(s1)-casein (goat)) | ?
| 3 | 9 | (ins[-8 AAT] etc.) | (ES[9&10&11]) |
| 26
|
| (beta-casein) | ?
| 3 | 2 | (int. polyY?) | (ES[3]) | comparison
| 27
|
| catalase | 13
| 5 | 4 | G5A (& 6 changes) | ES[4]
| suggestion from exp | 28
|
| CD18 (beta2 integrins) | 16
| 3 | 6 | C-14A | N3[-12] | | 29
|
| 5 | 9 | G3C | ES[9]! | | 30
|
| 5 | 7 | G1A | IR[7] | C5[+298], C5[+64]
| 31
|
| cholesteryl ester transfer protein (CETP) | >16
| 5 | 14 | G1A | ? (abolish) | | 32
|
| choroideremia (CHM) gene | >5
| 5 | C | ins[+3 T] | C5[+35] or ES[C] |
| 33
|
| c-kit (mouse) | ?
| 5 | b | G1A | ES[B](?) | ES[B&C] tissue-spc.
| 34
|
| c-myb (mouse) | ?
| | 3 | proviral integration
| new start & new EX far downstrm! | | 35
|
| c-myb c-ets-1 (chicken) | ?
| ? | ? | ? | (fusion: exon E6 and a) |
| 36
|
| type I collagen pro-alpha1(I) (COL1A1) | >50
| 5 | 6 | G-1A | ES[6]
| more than normal; nearly half | 37 38
|
| 5 | 14 | G5A | ES[14] | partial | 39
|
| type I collagen pro-alpha2(I) (COL1A2) | >50
| 3 | 5 | G-1C | C3[+15] | | 40
|
| 5 | 6 | G-1A | ES[6] | | 41
|
| 5 | 6 | G1A (&Tc7.3C) | ES[6] | ; half
| 42 43
|
| 5 | 6 | T2C | ES[6] | | 44
|
| 5 | 9 | del[+3:+13] | ES[9] | | 38
|
| 3 | 10 | del[-5:+14 CTA..] | ES[11]
| half; no cryptic | 45
|
| 3 | 27 | A-2G | ES[28] | major of half
| 46
|
| 5 | 33 | G5A (&T661G) | ES[33] |
| 47
|
| type III collagen (COL3A1) | >43
| 5 | 16 | G1A | ES[16] | 71% | 48
|
| 5 | 20 | G1A | C5[+24] (60/156)
| IR[20] or ES[20] | 48 49
|
| 5 | 25 | G5T | ES[25] | | 50
|
| 5 | 41 | G1A | ES[41] | 69% | 51
|
| 5 | 42 | G1A | C5[+30] | 100%
| 48
|
| complement C2 (C2D) | 18 | 5 | 6 | del[-9:19]
| ES[6] | complete | 52
|
| complement C3 | 30 | 5 | 18 | G1A | C5[-61]
| | 53
|
| (complement C4 (mouse)) | ? | | 13
| (B2 insert) | N3[], C5[] | | 54
|
| cystic fibrosis transmembrane conductance regulator (CFTR) | 27
| 5 | 4 | G1T(621) | ? | | 55
|
| 5 | 5 | G1T(711) | ? | | 55
|
| 3 | 10 | G-1A | ? | | 56
|
| cytochrome P450(C21)B (steroid 21-hydroxylase B) | 10
| 3 | 2 | C-13G(656) | C3[-19] | | 57
|
| (cytochrome P450(C21)B (steroid 21-hydroxylase B) (bovine)) | ?
| ? | ? | ? | (C5[+20]) (normal??) |
| 58
|
| cytochrome P450IID6 (CYP2D6) (CYP2D7) | 9
| 3 | 3 | G-1A(1934) | N3[+1]?
| probable (similar size of mRNA) | 59
|
| 3 | 3 | G-1A | (no protein ??) |
| 60
|
| dihydrofolate reductase (CHO cell) | 6
| 5 | 2 | GG-1:1AA | ES[2] | | 61
|
| 3 | 4 | G-1A | ES[5] | | 62
|
| 5 | 4 | && G1A
| REVERTANT: partial C5[+4] && C3[+4] etc | | 62
|
| 3 | 4 | G1T | ES[5] | | 62
|
| 3 | 4 | (G1A) | REVERTANT | 25% normal
| 62
|
| 5 | 5 | G1C | ES[5] | | 62
|
| dystrophin | >79 | 3 | 18 | del[+31(~34):+82(~86)]
| ES[19] | | 63
|
| factor VIII | 26 | 5 | 4 | G?A (TCGAAGTGAGT)
| N5[+?]? | probable | 64
|
| factor XI (plasma thromboplastin) | 15 | 5 | N 14
| G1A | ? | | 65
|
| ferrochelatase | 11 | 3 | 1 | C-23T
| ES[2] | near BP | 66
|
| fibrillin | ? | 3 | ? | T26G & -64 polym.(G/A)
| ES[(B)] | nonsense mut. | 67
|
| alpha2-globin | 3
| 5 | 1 | del[+2:+6 TGAGG] | C5[-49] | EXP
| 68 69
|
| beta-globin | 3
| 5 | 1 | A-34G | N5[-38]
| 25%; likely; normal:60% | 70 71
|
| 5 | 1 | T-18A | N5[-16] | 75% | 72
|
| 5 | 1 | G-1C | ? C5[-38, -16, +13] ?
| total abolish | 73 74
|
| 5 | 1 | G1A | C5[-38, -16, +13] |
| 75
|
| 5 | 1 | G1T | C5[-38, -16, +13] ? | | 76
|
| 5 | 1 | T2C | C5[-38, +13] | (not -16!)
| 77 78 79
|
| 5 | 1 | T2G | (prevents normal) | | 80
|
| 5 | 1 | G5A | ?; C5[-16] | only; EXP
| 81 82
|
| 5 | 1 | G5C | C5[-38, -16, +13] | partial; EXP
| 75
|
| 5 | 1 | G5T | C5[-38, -16] (partial) | C5[+13]
| 83
|
| 5 | 1 | T6C | C5[-38, -16, +13] | partial; EXP
| 75
|
| 3 | 1 | G-21A(110) | N3[-19] | 90%; 80% abnormal
| 84 85 86
|
| 3 | 1 | T-15G(116) | N3[-14] | >99% abnormal
| 86
|
| 3 | 1 | T-3G | ? | | 87
|
| 3 | 1 | G-1C(130) | ? | | 88
|
| 3 | 1 | (G1C) | ? (no effect?) |
| (73)
|
| 3 | 1 | (G1T) | ? (no effect?) |
| (73)
|
| 3 | 1 | del[-22(-23):+3(2)] | IR[1] |
| 89
|
| 5 | 2 | G1A (& G74T) | C5[+47] or ES[2] | EXP
| 90
|
| 5 | 2 | C654T(-197)
| N5[+653] -> C3[+579] new exon (73nt) |
| 91 92
|
| 5 | 2 | T705G(-146) (& 5 changes)
| N5[+706] -> C3[+579!] new exon | | 93
|
| 5 | 2 | T705G(-146) & A580G (-271)
| REVERTANT normal IVS2 | EXP | 94
|
| 5 | 2 | C745G (-106)
| N5[+745] -> C3[+579] new exon | EXP | 75
|
| 3 | 2 | T-8G | ? | | 95
|
| 3 | 2 | C-3A | C3[-272] |
| 87 96
|
| 3 | 2 | A-2G | C3[-272] | no normal
| 97 98
|
| 3 | 2 | A-2C(849) | ? (normal size mRNA?) |
| 99
|
| delta-globin | 3
| 5 | 1 | G-11T(c27.1) | N5[-16]?
| presumably; partial | 100
|
| 5 | 1 | T2C! | ? | | 100
|
| glucocorticoid receptor (mouse) | 9? | ? | ? | ?
| ES[2] | rearrange?; cell | 101
|
| (glycophorin B) | 5
| 5 | (3) | (G1T) | (ES[3]) | comparison with GPA
| 102
|
| 3 | 5 | (A1T & T-10G) | (C3[-10])
| comparison with GPA | 102
|
| glycoprotein (GP) IIb platelet fibrinogen receptor | 30
| 3 | 3 | del[-3:+10] | C3[+18] | | 103
|
| glycosylasparaginase | 9 | 5 | 8 | G1T
| ES[8] | | 104
|
| G(s alpha) protein | ? | ? | ? | ?
| large del.? (non GT-AG; cell) | | 105
|
| (growth hormone hGH-N) | 5 | 3 | 2
| (A24G & CA17:18TG) | (disable alt C5[+45])
| compared with hGH-V BPmut? | 106
|
| (growth hormone hCS-L) | 5
| 5 | 2 | (G1A) | (C5[+19]) | compared with hGH-N
| 107
|
| 3 | 2 | (T-28G & C2G) | (N3[-28])
| compared with hGH-N | 107
|
| growth hormone (rat) | 5 | 3 | 3 | G-1A
| N3[+1] | | 108
|
| beta-N-acetylhexosaminidase A alpha chain
(beta-hexosaminidase) | 14
| 5 | 2 | G1A | ES[2] | low amount | 109
|
| 5 | 4 | G5A | ES[4] | 3% | 109
|
| 5 | 5 | G-1A | ES[5] | ES[5&4]
| 110
|
| 5 | 7 | (G-1A) | nothing (aa change only) ? |
| 111
|
| 5 | 9 | del[-12:-8 TCTCC] | ?
| unpublished (Triggs-Raine & Gravel) | 112
|
| 5 | 12 | G1C | equal IR[12] or ES[12]
| && ES[downstrm] | 113 114
|
| beta-N-acetylhexosaminidase A beta chain
(beta-hexosaminidase) | 14
| 3 | 10 | C8T! | C3[+112] (2/14) or ES[11] (1/14)
| | 115
|
| 3 | 12 | G-26A | N3[-24] | no normal
| 116
|
| 3 | 13 | dup[-16:+2] | N3[-18] | most
| 117
|
| hypoxanthine phosphoribosyl-transferase (HPRT)
| 9
| 5 | 1 | G5A | C5[+50!] | induced
| 118 119
|
| 5 | 1 | G5T | C5[+50!] | induced
| 118 119
|
| 5 | 1 | del[-2:+34] | C5[+50] | | 119
|
| 3 | 1 | A-2G | ES[2] | ES[2&3], C3[+5]
| 119
|
| 3 | 1 | A-2T | C3[?] | ES[2]
| 120
|
| 3 | 2 | C17T | ES[2&3] 50% | normal 50%?
| 119
|
| 3 | 2 | A29T | normal 90% | ES[2&3] 10%?
| 119
|
| 3 | 2 | G75T | normal 60-70%
| C3[-111] 20-40%? (& ES[2&3]) | 119
|
| 3 | 3 | A-2T | ES[4] | | 119
|
| 3 | 3 | G-1A | ES[4] | | 119
|
| 5 | 4 | G1A | ES[4] | | 119
|
| 5 | 5 | T2G | C5[+68!] | | 121
|
| 5 | 5 | T2C | C5[+68] | | 119
|
| 5 | 5 | AA3:4GT | C5[+68!] | induced
| 118 119
|
| 5 | 5 | G5A | C5[+68!] | induced
| 118 119
|
| 3 | 5 | G-1A | C3[+1] | | 119
|
| 3 | 5 | GG-1:1AA | ES[6] | | 119
|
| 5 | 6 | G-1A | ES[6] | | 119
|
| 5 | 6 | G1A(35020) | ES[6] |
| 122 119
|
| 3 | 6 | A-2T | ES[7] | | 119
|
| 5 | 7 | G1A | ES[7] | | 119
|
| 5 | 7 | G5A | ES[7] | | 120
|
| 3 | 7 | T-3A | ES[8] | induced
| 123
|
| 3 | 7 | G-1A | C3[+21],ES[8]
| either or both | 119
|
| 3 | 7 | G12A(544) | normal 95% | ES[8] 5%? induced
| 118 119
|
| 3 | 7 | C19T(551) | normal 70% | ES[8] 30%?
| 119
|
| 5 | 8 | C-13T | ES[8] 90% | normal 10%?
| 119
|
| 5 | 8 | G5A | ES[8] | | 120
|
| 5 | 8 | del[-11:+3] | ES[8] | | 119
|
| 5 | 8? | ? (no change?) | C5[+14] |
| 121
|
| 3 | 8 | G-16A | C3[-14] | | 119
|
| 3 | 8 | A-2G | C3[+17] |
| 123 124
|
| 3 | 8 | A-2T | C3[+17?] | | 120
|
| ? | ? | ? not(I1A I2D I2A I3D I3A I4D) | ES[2(&3)]
| | 119
|
| ? | ? | ? not(I3A I4D) | ES[4] |
| 121 119
|
| ? | ? | ? | ES[5] | | 121
|
| ? | ? | ? | ES[7] | | 123
|
| ? | ? | ? not I7A | ES[8] | | 119
|
| ? | ? | ? not I8A | C3[+17] | | 119
|
| hypoxanthine phosphoribosyl-transferase (HPRT) (mouse) | 9
| ? | ? | ? | ES[2] | ES[2&3] | 125
|
| immunoglobulin kappa L chain | (2)
| ? | ? | V J (many changes) | ES[VJ] |
| 126
|
| 5? | 2 | (no J) ? | C5[+62] | | 127
|
| immunoglobulin mu H chain | (6?)
| 5 | 2 | large ins/del at VDJ | ES[VDJ] |
| 128
|
| immunoglobulin alpha H chain | ?
| ? | ? | (complex) | (complex) | | 129
|
| immunoglobulin gamma2b H chain (mouse) | ?
| 5 | ch1 | del[99nt] | ES[CH1] | | 130
|
| isovaleryl-CoA dehydrogenase (IVD) | ?
| ? | ? | ? | ES[2] | | 131
|
| lipoprotein lipase (LPL) | 10
| 5 | 2 | G1A | C5[-18] 1/12
| C5[+43,+146, +250,+387] | 132, 133
|
| (MHC classII DC-3beta) | >5
| 3 | 4? | (G-1A) | (ES[?]) | compared with Ab
| 134
|
| MHC Ia E(w17)(beta) (mouse) | ?
| 5 | 1 | ins[+3T] | no mRNA? | | 135
|
| ornithine (delta-) aminotransferase (OAT)
| 11
| 5 | 3 | C292?G
| N5[?] -> C3[0.15kb] new exon (142nt) | antisense Alu
| 136
|
| 3 | 4 | del[-5:+4] | ES[5] | | 137
|
| 3 | 5 | G13A | ES[6] | nonsense mut.
| 67
|
| 3 | 7 | G53A | ES[8] | nonsense mut.
| 67
|
| ornithine transcarbamylase (OTC) | 10
| 3 | 4 | A-2T | C3[+12] | | 138
|
| 5 | 7 | T2C | ES[7] | | 138
|
| 5 | 7 | A3G! | ES[7] | | 138
|
| ornithine transcarbamylase (OTC) (mouse) | 10
| 5 | 4 | G-1A | C5[+49!] | partial
| 139
|
| p53 | 11
| 3 | 3 | G-1C | C3[+19] or ES[4] |
| 140
|
| 5 | 4 | G-1A | IR[4] | | 141
|
| 5 | 5 | G5C | C5[-46] | | 142
|
| 5 | 7 | G1T | IR[7] | | 140
|
| (pancreatic polypeptide) | 4
| 5 | 3 | (A-2T & A4G) | (C5[+42])
| compared with rat | 143
|
| parathyroid hormone (PTH) | 3
| 5 | 2 | G1C | ES[2] | | 144
|
| peroxisomal membrane protein 70K (PMP70) | ?
| 5 | ? | G1A | C5[+23] | | 145
|
| phenylalanine hydroxylase (PAH) | >13
| 3 | 10 | G-11A(546) | N3[-9] |
| 146 147
|
| 5 | 7 | G1A | ? | | 148
|
| 5 | 12 | G1A | ES[12] | | 149
|
| muscle phosphofructokinase | 24
| 5 | 13 | G1T (& silent T(516)C) | C5[-75] |
| 150
|
| porphobilinogen (PBG) deaminase | 15
| 5 | 1 | G-1T | ? | | 151
|
| 5 | 1 | G1A | ? (tissue-spc.) | | 152
|
| 5 | 10 | G-1T | C5[-9] | | 153
|
| 5 | 12 | G-1A | ES[12] | | 154
|
| myelin proteolipid protein (PLP) (mouse) | 7
| 3 | 4 | A-2G | ES[5] (74 nt) |
| 155 156
|
| (myelin proteolipid protein (PLP) (frog)) | ?
| 5 | 3 | (?) | (C5) | (comparison; no isoform)
| 157
|
| purine nucleotide phosphorylase (PNP) | 6
| 5 | 2 | G-1T | ES[2] | | 158
|
| retinoblastoma (Rb) antioncogene | ?
| 3 | 20 | A-2G | ES[21] (35aa) |
| 159
|
| beta-spectrin | ?
| 5 | X | A4G | ES[X] | | 160
|
| 5 | Y | G3T | ES[Y] | | 161
|
| steel factor (mouse) | ?
| 3 | 7 | T-11A | ES[8] | | 162
|
| (sulfatide activator protein (SAP-1)) | ?
| - | - | - | (6 or 9 bp exons) | alternative
| 163
|
| thyroglobulin | >14
| 3 | 3 | C-3G | ES[4] | | 164
|
| (thyroglobulin (Africander cattle)) | ?
| 5 | 9 | ? | (ES[9 ] (1500nt!) alternative?) |
| 165
|
| thyroid peroxidase (TPO; thyroperoxidase) | >17
| ? | ? | ? | ES[16] ? (alternative?) |
| 166
|
| thyroid peroxidase (TPO; thyroperoxidase) (rat cell) | ?
| 5 | 7 | G1A | C5[+54] | | 167
|
| uroporphyrinogen decarboxylase (URO-D) | 10
| 5 | 6 | G1C | ES[6] | | 168
|
| Wilms' tumor gene (WT1) | 10
| 5 | 9 | G5A | ? (not ES) | | 169
|
| group A xeroderma pigmentosum complementing gene (XPAC) | 6
| 3 | 3 | G-1C | C3[+2] | && ES[3]
| 170
|