|
Gene name | Description | Entrez gene | Size (bp) pseudoexon | Activating mutation | Reference |
|
ABCC8 | ATP-binding cassette, sub-family C (CFTR MRP), member 8 | 6833 | 76 | 5′ss creation | [103] |
ALDH7A1 | Aldehyde dehydrogenase 7 family, member A1 | 501 | 36 | 5′ss mutation | [104] |
CD40LG | CD40 ligand (TNF superfamily, member 5, hyper-IgM syndrome) | 959 | 59 | 5′ss creation | [105] |
CEP290 | Centrosomal protein 290 kDa | 80184 | 128 | 5′ss creation | [106, 107] |
CHM | Choroideremia (Rab escort protein 1) | 1121 | 98 | 3′ss creation | [108] |
COL4A3 | Collagen, type IV, alpha 3 (Goodpasture antigen) | 1285 | 74 | 3′ss creation | [109] |
COL11A1 | Collagen, type XI, alpha 1 | 1301 | 50 | 5′ss creation | [110] |
CTDP1 | CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1 | 9150 | 95 | 5′ss creation | [111] |
CYBB | Cytochrome b-245, beta polypeptide (chronic granulomatous disease) | 1536 | 56 | 5′ss creation | [112] |
CYBB | | | 61 | 5′ss creation | [113] |
CYP17A1 | Cytochrome P450, family 17, subfamily A, polypeptide 1 | 1586 | 94 | Upstream 5′ss mutation | [114] |
QDPR | Quinoid dihydropteridine reductase | 5860 | 152 | 5′ss creation | [115] |
DPYD | Dihydropyrimidine dehydrogenase | 1806 | 44 | 5′ss creation | [116] |
FBN1 | Fibrillin 1 | 2200 | 93 | 5′ss creation | [117] |
GHR | Growth hormone receptor | 2690 | 102 | SRE deletion | [118, 119] |
GUSB | Glucuronidase, beta | 2990 | 68 | 5′ss creation | [120] |
HADH | Hydroxyacyl-coenzyme A dehydrogenase | 3033 | 141 | 5′ss creation | [103] |
HADHB | Hydroxyacyl-coenzyme A dehydrogenase 3-ketoacyl-coenzyme A thiolase enoyl-coenzyme A hydratase (trifunctional protein), beta subunit | 3032 | 56 106 | 5′ss creation | [121] |
HSPG2 | Heparan sulfate proteoglycan 2 | 3339 | 141 | 5′ss creation | [103] |
SMARCB1 | SWI SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 | 6598 | 72 | 5′ss creation | [122] |
ISCU | Iron-sulfur cluster scaffold homolog (E. coli) | 23479 | 86 100 | 3′ss creation | [123–125] |
SLC14A1 (JK) | Solute carrier family 14 (urea transporter), member 1 (Kidd blood group) | | 136 | Internal 7 kb deletion | [126] |
MCCC2 | Methylcrotonyl-coenzyme A carboxylase 2 (beta) | 64087 | 64 | SRE deletion | [127] |
MFGE8 | Milk fat globule-EGF factor 8 protein | 4240 | 102 | SRE creation | [128] |
MLC1 | Megalencephalic leukoencephalopathy with subcortical cysts 1 | 23209 | 246 | 5′ss creation | [129] |
MTRR | 5-methyltetrahydrofolate-homocysteine methyltransferase reductase | 4552 | 140 | SRE creation | [130] |
GPR143 | G protein-coupled receptor 143 | 4935 | 165 | 3′ss creation | [131] |
OAT | Ornithine aminotransferase (gyrate atrophy) | 4942 | 142 | 5′ss creation | [132] |
OFD1 | Oral-facial-digital syndrome 1 | 8481 | 62 | 5′ss creation | [133] |
OTC | Ornithine carbamoyltransferase | 5009 | 135 | 3′ss creation | [134] |
PCCA | Propionyl-coenzyme A carboxylase, alpha polypeptide | 5095 | 84 | SRE creation | [135] |
PCCB | Propionyl-coenzyme A carboxylase, beta polypeptide | 5096 | 72 | 5′ss creation | [135] |
PHEX | Phosphate regulating endopeptidase homolog, X-linked (hypophosphatemia, vitamin D resistant rickets) | 5251 | 50 100 170 | 5′ss creation | [136] |
PKHD1 | Polycystic kidney and hepatic disease 1 (autosomal recessive) | 5314 | 116 | 5′ss creation | [137] |
PMM2 | Phosphomannomutase 2 | 5373 | 66 | 3′ss creation | [138] |
PMM2 | | | 123 | 5′ss creation | [138, 139] |
PRPF31 | PRP31 pre-mRNA processing factor 31 homolog (S. cerevisiae) | 26121 | 175 | 5′ss creation | [140] |
RHD | Rh blood group, D antigen | 6007 | 170 | Upstream 3′ss deletion and SNP in int7 | [141] |
RYR1 | Ryanodine receptor 1 (skeletal) | 6261 | 119 | 5′ss creation | [142] |
SLC12A3 | Solute carrier family 12 (sodium chloride transporters), member 3 | 6559 | 238 | 5′ss creation | [143] |
USH2A | Usher syndrome 2A (autosomal recessive, mild) | 7399 | 152 | 5′ss creation | [144] |
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