Table 1.
Genes most enriched in FANCD2 after APH treatment.
| Rank | Gene ID | Genomic location/fragile site | Gene size (bases) | Description/function |
|---|---|---|---|---|
| 1 | IMMP2L | 7q31.1 FRA7K | 899,887 | Inner mitochondrial membrane peptidase |
| 2 | DOCK1 | 10q26.2 FRA10F | 547,109 | Dedicator of cytokinesis 1, guanine nucleotide exchange factor, cell motility |
| 3 | EXOC4 | 7q33 FRA7H | 813,523 | Exocyst complex component 4, exocyst component, vesicle transport |
| 4 | FHIT | 3p14.2 FRA3B | 1,503,873 | Fragile histidine triad, nucleotide metabolism, mitochondrial Ca2+ uptake |
| 5 | SPATA17 | 1q41 | 240,373 | Spermatogenesis associated 17, calmodulin binding |
| 6 | PTPRG | 3p14.2 (FRA3B) | 736,045 | Protein tyrosine phosphatase, receptor type G |
| 7 | SMYD3 | 1q44 FRA1I | 758,003 | KMT3E, histone-lysine N-methyltransferase |
| 8 | DPYD | 1p21.3 FRA1E | 843,317 | Dihydropyrimidine dehydrogenase |
| 9 | PLCB1 | 18q12.2 FRA18Aa | 891,110 | Phospholipase C beta 1, intracellular transduction |
| 10 | DCDC1 | 11p13 FRA11E | 539,442 | Doublecortin, Golgi-derived vesicle transport |
| 11 | GRID1 | 10q23.2 putative CFS6,23 | 766,939 | Glutamate receptor, ionotropic, delta 1, synaptic plasticity |
| 12 | FARS2 | 6p25.1 FRA6B | 510,566 | Phenylalanyl-TRNA synthetase 2, mitochondrial, mitochondrial translation |
| 13 | RABGAP1L | 1q25.1 FRA1G | 835,899 | GTP-hydrolysis activating protein (GAP) for small GTPase RAB22A |
| 14 | PGCP | 8q22.1 FRA8B | 504,428 | Carboxypeptidase Q, aminopeptidase |
| 15 | SHANK2 | 11q13.4 FRA11H?a | 784,883 | SH3 and multiple ankyrin repeat domains 2, synaptic transmission |
| 16 | PARD3B | 2q33.3 FRA2I | 1,074,370 | Par-3 family cell polarity regulator beta, asymmetrical cell division and cell polarity |
| 17 | NBEA | 13q13.3 | 730,736 | Neurobeachin, lysosomal-trafficking Regulator 2 |
| 18 | FHOD3 | 18q12.2 FRA18Aa | 482,364 | Formin homology 2 domain containing 3, interaction with SQSTM1 |
| 19 | SLCO3A1 | 15q26.1 | 318,741 | Solute carrier organic anion transporter family member 3A1, |
| 20 | XYLT1 | 16p12.3 putative folate sensitive FSb | 369,113 | Xylosyltransferase 1, glycosaminoglycan metabolism in the ER |
| 21 | GPATCH2 | 1q41 | 204,111 | G-patch domain containing 2, spermatogenesis, |
| 22 | MAD1L1 | 7p22.3 | 417,452 | Mitotic arrest deficient 1 like 1 |
| 23 | PRKG1 | 10q11.23 FRA10G?a | 1,307,200 | Protein kinase, CGMP-dependent, Type I, mediator of the nitric oxide (NO)/cGMP signaling pathway |
| 24 | MGMT | 10q26.3 | 300,859 | O-6-methylguanine-DNA methyltransferase, DNA repair |
| 25 | FOXP1 | 3p13 | 629,297 | Forkhead Box P1, transcription factor |
| 26 | WWOX | 16q23.1 FRA16D | 1,113,255 | WW domain containing oxidoreductase, putative oxidoreductase |
| 27 | SUCLG2 | 3p14.1 | 294,155 | Succinate-CoA ligase GDP-forming beta subunit, mitochondrial, TCA cycle |
| 28 | KIAA1328 | 18q12.2 FRA18Aa | 418,211 | Hinderin, competes with SMC1 for binding to SMC3 |
| 29 | HDAC9 | 7p21.1 | 915,475 | Histone dacetylase 9 |
| 30 | TBC1D22A | 22q13.31 FRA22A?a | 440,863 | TBC1 domain family member 22A, putative GTPase-activating protein for Rab family protein(s) |
| 31 | TRAPPC9 | 8q24.3 FRA8D | 730,499 | Trafficking protein particle complex 9, vesicular transport from endoplasmic reticulum to Golgi |
| 32 | DIAPH2 | Xq21.33 FRAXL | 920,335 | Diaphanous related formin 2, endosome dynamics |
aCytogenetically characterized by Debacker and Frank Kooy (2007).
bCytogenetically characterized folate sensitive FS at 16p12.3 (Sutherland 1988).