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 |