Table 1. PTR-COSMIC-damaging variants detected in TCB of Jed99_DNET.
| Gene Symbol | Description | Function | COSMIC |
|---|---|---|---|
| ATN1 | Atrophin 1 | BP: GO:0051402 neuron apoptotic process | COSM431781 |
| CDC27 | Cell division cycle 27 | BP: GO: 0045842 positive regulation of mitotic metaphase/anaphase transition; HGS: (M5893) HALLMARK MITOTIC SPINDLE; (M5901) HALLMARK G2M CHECKPOINT; (M5945) HALLMARK HEME METABOLISM | COSM4130311, COSM4130259, COSM5453105, COSM4268063, COSM4130195, COSM4130201, COSM4130207, COSM4130213, COSM4130215, COSM4130217, COSM436751, COSM5611630, COSM4130221, COSM6291465, COSM4130241, COSM4130243, COSM4130245, COSM5764327, COSM3742283, COSM4130257, COSM4130301, COSM4130307, COSM4130309, COSM4130313 |
| CTBP2 | C-terminal binding protein 2 | BP: GO: 0048386 positive regulation of retinoic acid receptor signaling pathway; CP: (M5493) WNT SIGNALING | COSM5620575, COSM5468715, COSM5346315, COSM145279, COSM5021689, COSM3773526, COSM5620563, COSM5620565, COSM213712, COSM328281, COSM2021368, COSM4175021, COSM5703489, COSM5764563, COSM4144437, COSM4144443, COSM1603121, COSM4610155, COSM1600226, COSM4144449, COSM4144451, COSM4144455 |
| FRG1 | FSHD region gene 1 | BP: GO: 0006364 rRNA processing | COSM6029312, COSM4005732 |
| HYDIN | HYDIN axonemal central pair apparatus protein | BP: GO: 1904158 axonemal central apparatus assembly | COSM146271, COSM5958323, COSM1379438, COSM4129291 |
| IGSF3 | Immunoglobulin superfamily member 3 | BP: GO: 0032808 lacrimal gland development; HGS: (M5945) HALLMARK HEME METABOLISM | COSM4142216 |
| KMT2C | Lysine methyltransferase 2C | BP: GO: 0097692 histone H3-K4 monomethylation | COSM216053, COSM4161993, COSM4162005, COSM4162009 |
| NCOR1 | Nuclear receptor corepressor 1 | BP: GO: 0045820 negative regulation of glycolytic process; CP: (M13) PID ERBB4 PATHWAY; (M288) PID HES HEY PATHWAY; (M17) PID NOTCH PATHWAY | COSM5574208 |
| PABPC1 | Poly(A) binding protein cytoplasmic 1 | BP: GO: 2000622 regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; HGS: (M5949) HALLMARK PEROXISOME; (M5926) HALLMARK MYC TARGETS V1 | COSM6201671, COSM485880, COSM6276973 |
| VWF | von Willebrand factor | BP: GO:0007597 blood coagulation, intrinsic pathway; CP: (M3008) NABA ECM GLYCOPROTEINS; HGS: (M5946) HALLMARK COAGULATION; (M5915) HALLMARK APICAL JUNCTION | COSM6417961 |
COSMIC codes last checked 01/11/2021. All selected genes were significantly associated with the development of the posterior temporoparietooccipital (occipital lobe, parietal lobe, temporal lobe) region of the brain during embryogenesis (P<0.01) (20). All attributed functions were identified by Metascape. BP, biological process (GO); CP, canonical pathways; COSMIC, catalogue of somatic mutations in cancer; DNET, dysembryoplastic neuroepithelial tumour; GO, Gene Ontology; HGS, hallmark gene sets; PTR, posterior temporoparietooccipital region; TCB, tissue, cell line and blood.