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. 2014 Oct 10;71(23):4601–4615. doi: 10.1007/s00018-014-1753-6

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