Pt | Gene | Name | Function | Biological process | Ref | Position* | Gene alteration |
---|---|---|---|---|---|---|---|
1 | CEP250 | Centrosomal protein 250kDa | Core centrosomal protein required for centriole-centriole cohesion during the interphase of the cell cycle. | Cell cycle progression (centriole-centriole cohesion) ; transcritpion regulation | 50 | chr20:33506637-33563217 | Loss |
 | DSN1 | MIND kinetochore complex component, homologue (S. cerevisiae) | Kinetochore protein that functions as part of the minichromosome instability-12 centromere complex, required for proper kinetochore assembly and progression through the cell cycle. | Cell cycle progression (kinetochore assembly) | 51,52 | chr20:34813608-34835644 | Loss |
2 | MAD2L2 | MAD2 mitotic arrest deficient-like 2 (yeast) | Component of the mitotic spindle assembly checkpoint that prevents the onset of anaphase until all chromosomes are properly aligned at the metaphase plate. | Cell cycle progression; DNA repair | 53 | chr1:11657124-11674265 | Loss |
 | APITD1/CENPnS | Apoptosis-inducing, TAF9-like domain 1 | Component of multiple complexes, including the Fanconi anemia (FA) core complex, the APITD1/CENPS complex, and the CENPA-CAD (nucleosome distal) complex. Known role in the stable assembly of the outer kinetochore. | Mitotic cell cycle progression; DNA repair; DNA-dependent transcription initiation | 54 | chr1:10412746-10425459 | Loss |
3 | RECQL5 | RecQ protein-like 5 | Member of DNA-helicase with a specific role being coupled to RNAPII transcription and DNA recombination. | DNA helicase activity (DNA repair, transcription regulation) | 55,56, 57 | chr17:71134545-71174860 | Gain |
 | ANAPC11 | Anaphase-promoting complex subunit 11 | Component of the anaphase.promoting complex/cyclosome (APC/C), a cell cycle-regulated E3 ubiquitin ligase that controls progression through mitosis and the G1 phase of the cell cycle. | Mitotic cellcycle progression | 58,59,60 | chr17:77442895-77451655 | Gain |
4 | MED16 | Mediator complex subunit 16 | Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes | Transcription regulation | 61 | chr19:867,962-893,218 | Gain |
 | MBD3 | Methyl-CpG binding domain protein 3 | Subunit of the NuRD, a multisubunit complex containing nucleosome remodelling and histone deacetylase activities. It acts as a transcriptional repressor and plays a role in gene silencing | Histone acetylation (transcription regulation, cell cycle progression) | 62, 63 | chr19:1527678-1543652 | Interrupted |