Table 3.
Genes Disrupted by Translocation Breakpoints in Cases and Controls
| Code | BP Band by FISH | Gene Disrupted | Description | ||
|---|---|---|---|---|---|
| Cases | 1 | GILLE | Xp22.2 | ARHGAP6 | Rho-GTPase-activating protein 6 |
| 2 | GILLE | 11p11.2 | PHF21A | PHD finger protein 21A | |
| 3 | MARTA | 9q21.13 | ANXA1 | annexin A1 | |
| 4 | ROOJA | 5q14.3 | RASA1 | Ras GTPase-activating protein 1 (GTPase-activating protein) (GAP) | |
| 5 | ROOJA | 7q22.1 | FBXL13 | F-box/LRR-repeat protein 13 (F-box and leucine-rich repeat protein 13) | |
| 6 | MAGAN | 3q23 | RASA2 | Ras GTPase-activating protein 2 (GAP1m) | |
| 7 | MAGAN | 4q31.22 | SLC10A7 | Sodium/bile acid cotransporter 7 | |
| 8 | F92-2253 | 5q15 | MCTP1 | multiple C2-domains with two transmembrane regions 1 isoform S | |
| 9 | GILL | 12q24.31 | PSL4∗ | Signal peptide peptidase-like 3 (SPP-like 3 protein) (Intramembrane protease 2) (IMP2) (Presenilin-like protein 4) | |
| 10 | F03-0432 | Xq26.2 | GPC3 | Glypican-3 precursor (Intestinal protein OCI-5) (GTR2-2) (MXR7) | |
| 11 | B04-0611 | 9q31.3 | EDG2 | endothelial differentiation gene, lysophosphatidic acid G-protein-coupled receptor, 2 | |
| 12 | B90748 | 1q25.1 | TNN | Tenascin-N precursor (TN-N) | |
| 13 | NCL-B04-2316 | 3q21.3 | EEFSEC | Selenocysteine-specific elongation factor | |
| 14 | NCL-B04-2316 | 6p21.1 | RUNX2 | Runt-related transcription factor 2 | |
| 15 | B00213 | 2q33.1 | SATB2 | DNA-binding protein SATB2 (Special AT-rich sequence-binding protein 2) | |
| 16 | BL02-3104 | 9q34.2 | RXRA | Retinoic acid receptor RXR-alpha | |
| 17 | AC114 | 10q24.2 | LOXL4 | Lysyl oxidase homolog 4 precursor | |
| 18 | BL03-0967 | 20p13 | C20ORF116 | Protein C20orf116 precursor | |
| 19 | BL03-1791 | 7q22.1 | CUX1 | CCAAT displacement protein (CDP) (Cut-like 1 | |
| 20a | CV345 | 9q22.33 | C9orf156 | Uncharacterized conserved protein [Function unknown] | |
| 20b | CV345 | 9q22.33 | HEMGN | Hemogen | |
| 21 | BL03-2425 | 13q32.1 | HS6ST3 | heparan sulfate 6-O-sulfotransferase 3 | |
| 22 | CV1222 | 7q34 | DENND2A | DENN/MADD domain containing 2A | |
| 23 | BL04-0107 | 6q25.1 | MAP3K7IP2 | mitogen-activated protein kinase kinase kinase 7 interacting protein 2 isoform 1 | |
| 24 | BL04-2026 | 6q25.1 | MTHFD1L | methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like | |
| Controls | 1 | B98-0026 | 1q25.2 | CEP350 | centrosome-associated protein 350 |
| 2 | B97-0349 | 3p14.1 | FAM19A1 | family with sequence similarity 19 (chemokine (C-C motif)-like), member A1 | |
| 3 | SISCO | 1p13.3 | MYBPHL | myosin binding protein H-like | |
| 4 | PETEN | 12p13.32 | EFCAB4B | EF-hand calcium binding domain 4B | |
| 5 | JOGAR | Xp11.3 | EFHC2 | EF-hand domain (C-terminal) containing 2 | |
| 6 | JOGAR | 14q32.33 | ENST00000342537∗ | Ensembl novel pseudogene | |
| 7 | B01-2804 | 12q24.23 | KSR2 | Kinase suppressor of ras-2 (hKSR2) | |
| 8 | BL03-0186 | 1p32.1 | FLJ10986∗ | no description | |
| 9 | BL03-0186 | 7q35 | TPK1 | Thiamin pyrophosphokinase 1 | |
| 10 | BL03-0185 | 2q37.2 | CENTG2 | centaurin, gamma 2 | |
| 11 | BL03-0185 | 4p15.33 | C1QTNF7 | Complement C1q tumor necrosis factor-related protein 7 precursor | |
| 12 | BL03-0876 | 1q44 | KIF26B | kinesin family member 26B | |
| 13 | BL03-0362 | 2q32.1 | ZNF804A | zinc finger protein 804A | |
| 14 | BL03-1979 | 6q22.33 | PTPRK | Receptor-type tyrosine-protein phosphatase kappa precursor | |
| 15 | BL03-3032 | 18p11.31 | MRCL2∗ | myosin regulatory light chain MRCL2 | |
| 16 | BL03-2725 | 14q21.3 | GALC | Galactocerebrosidase precursor | |
| 17 | BL04-2024 | 7q31.2 | MET | Hepatocyte growth factor receptor precursor, (Met proto- oncogene tyrosine kinase) (c-met) | |
| 18 | CV1510 | 14q12 | NOVA1 | RNA-binding protein Nova-1 (Neuro-oncological ventral antigen 1) | |
| 19 | BL04-3994 | 3p26.3/26.2 | CNTN4 | Contactin 4 precursor (Brain-derived immunoglobulin superfamily protein 2 BIG-2) | |
| 20 | BL04-0339 | 5q12.3 | SDCCAG10 | serologically defined colon cancer antigen 10 |
∗
indicates that no HGNC official gene name is available.