Table 2.
The 26 known CFS large genes and their CFS regions and size
| Gene symbol | Description | Chromosome | CFS region | Size (bp) | |
|---|---|---|---|---|---|
| 1 | CNTNAP2 | Contactin associated protein-like 2 | 7q35 | FRA7I | 2,304,258 |
| 2 | DMD | Dystrophin | Xp21.1 | FRAXC | 2,092,287 |
| 3 | LRP1B | Low-density lipoprotein receptor-related protein 1B | 2q22.1 | FRA2F | 1,900,275 |
| 4 | CTNNA3 | Catenin (cadherin-associated protein), alpha 3 | 10q22.2 | FRA10D | 1,775,996 |
| 5 | DAB1 | Dab, reelin signal transducer, homolog 1 | 1p32.3 | FRA1B | 1,548,827 |
| 6 | FHIT | Fragile histidine triad | 3p14.2 | FRA3B | 1,499,181 |
| 7 | CCSER1 | Coiled-coil serine-rich protein 1 | 4q22.1 | FRA4G | 1,474,135 |
| 8 | GRID2 | Glutamate receptor, ionotropic, delta 2 | 4q22.1 | FRA4G | 1,467,842 |
| 9 | DLG2 | Discs, large homolog 2 (Drosophila) | 11q14.1 | FRA11F | 1,463,760 |
| 10 | PARK2 | Parkin RBR E3 ubiquitin protein ligase | 6q26 | FRA6E | 1,379,130 |
| 11 | IL1RAPL1 | Interleukin 1 receptor accessory protein-like 1 | Xq21.2 | FRAXC | 1,368,379 |
| 12 | WWOX | WW domain containing oxidoreductase | 16q23.2 | FRA16D | 1,113,013 |
| 13 | SDK1 | Sidekick cell adhesion molecule 1 | 7p22.2 | FRA7B | 967,552 |
| 14 | PDGFRA | Platelet-derived growth factor receptor alpha | 4q12 | FRA4 | 920,550 |
| 15 | IMMP2L | IMP2 inner mitochondrial membrane peptidase-like | 7q31.1 | FRA7 K | 899,468 |
| 16 | RORA | RAR-related orphan receptor A | 15q22.2 | FRA15A | 732,040 |
| 17 | PTPRC | Protein tyrosine phosphatase, receptor type, C | 1q31.3 | FRA1 K | 118,508 |
| 18 | NBEA | Neurobeachin | 13q13 | FRA13A | 730,451 |
| 19 | LARGE | Like-glycosyltransferase | 22q12.3 | FRA22B | 647,355 |
| 20 | ARHGAP15 | Rho GTPase activating protein 15 | 2q22.2-q22.3 | FRA2F | 639,023 |
| 21 | CTNNA1 | CATENIN (cadherin-associated protein), alpha 1 | 5q31.2 | FRA5B | 181,617 |
| 22 | THSD7A | Thrombospondin, type I, domain containing 7A | 7p21.3 | FRA7B | 461,763 |
| 23 | MAD1L1 | MAD1 mitotic arrest deficient-like 1 | 7q22.3 | FRA7B | 417,157 |
| 24 | DPYD | Dihydropyrimidine dehydrogenase | 1p22 | FRA1D | 843,316 |
| 25 | ESRRG | Estrogen-related receptor gamma | 1q41 | FRA1H | 824,826 |
| 26 | USH2A | Usher syndrome 2A | 1q41 | FRA1H | 800,503 |