Table 2. Rearrangement Mutations.
Chromosomal Break Point (bp) | Chromosomal Break Point (bp) | Gap Length (bp) | No. of Reads | Disrupted Gene(s) | Break Point Location in Gene(s) | Gene Name/Function |
Intrachromosomal | ||||||
Chr2:115918613 | Chr2:116314797 | 396183 | 4 | DPP10 | Exons 4–24 deleted | K+ Channel Modulator |
Chr3:98917287 | Chr3:99007383 | 90095 | 3 | EPHA6 | Intron 18 | EPH receptor A6 |
Chr6:64615701 | Chr6:57319605 | 7296095 | 1 | EYS/PRIM2 | Intron 36/Intron 5 | Eyes shut homolog (Drosophila)/Primase, DNA, polypeptide 2 (58kDa) |
Chr8:6749979 | Chr8:34877265 | 28127285 | 1 | None | NA | NA |
Chr8:6786552 | Chr8:34863640 | 28077087 | 3 | None | NA | NA |
Chr8:21254202 | Chr8:72593210 | 51339007 | 1 | None | NA | NA |
Chr8:34816557 | Chr8:72573255 | 37756697 | 1 | None | NA | NA |
Chr8:34816593 | Chr8:72577581 | 37760987 | 3 | None | NA | NA |
Chr8:36550070 | Chr8:72552661 | 36002590 | 3 | None | NA | NA |
Chr9:21957500 | Chr9:22075035 | 117534 | 1 | None | NA | NA |
Chr10:84083200 | Chr10:84157179 | 73978 | 1 | NRG3 | Intron 1/Inton 2 | Neuregulin Growth Factor |
Chr11:55762996 | Chr11:55765854 | 2857 | 1 | None | NA | NA |
Chr11:59018943 | Chr11:59023522 | 4578 | 1 | None | NA | NA |
Chr12:127300384 | Chr12:126530113 | 770270 | 1 | None | NA | NA |
Chr17:23113949 | Chr17:65721910 | 42607960 | 4 | NOS2A | Intron 22 | Nitric Oxide Synthase |
Chr17:26853914 | Chr17:47815374 | 20961459 | 2 | RAB11FIP4 | Intron 3 | Endosomal Trafficking |
Chr17:47110011 | Chr17:68044222 | 20934210 | 2 | CA10 | Intron 5 | Carbonic Anhydrase |
Chr17:65036914 | Chr17:47505787 | 17531126 | 2 | MAP2K6/CA10 | Intron 10/Intron 2 | Kinase Signaling to p38/Carbonic Anhydrase |
Chr17:47696961 | Chr17:63830958 | 16133996 | 2 | ARSG | Intron 2 | Arylsulfatase G |
Chr19:38085640 | Chr19:38091701 | 6060 | 1 | CCDC123 | Part of intron 14 deleted | Coiled-coil domain Containing 123 |
Chr21:18540069 | Chr21:33670572 | 15130502 | 2 | CHODL | Intron 1 | Chondrolectin |
Chr21:20864799 | Chr21:18281613 | 2583185 | 4 | None | NA | NA |
Chr21:19693189 | Chr21:31062421 | 11369231 | 2 | None | NA | NA |
Chr21:21167077 | Chr21:27861346 | 6694268 | 1 | None | NA | NA |
Interchromosomal | ||||||
Chr9:31759669 | Chr11:84923849 | 1 | DLG2 | Intron 3 | Disc Large Homologue 2 | |
Chr10:117768069 | Chr17:48272943 | 1 | None | NA | NA | |
Chr10:121001050 | Chr17:21238007 | 2 | GRK5/KCNJ12 | Intron 1/Intron 1 | G-Protein Coupled Receptor/Potassium Channel | |
Chr15:23876380 | Chr6:67079455 | 1 | None | NA | NA | |
Chr17:61459185 | Chr21:21169765 | 1 | CCDC46 | Intron 12 | Coiled-coil domain containing 46 | |
Chr21:35609289 | Chr17:58726449 | 5 | TANC2 | Intron 7 | Tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 |