GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:001657015 | Esophagus | ESCC | histone modification | 323/8552 | 463/18723 | 2.61e-26 | 7.88e-24 | 323 |
GO:0016049110 | Esophagus | ESCC | cell growth | 289/8552 | 482/18723 | 1.29e-10 | 3.77e-09 | 289 |
GO:000155819 | Esophagus | ESCC | regulation of cell growth | 248/8552 | 414/18723 | 2.97e-09 | 6.45e-08 | 248 |
GO:000184115 | Esophagus | ESCC | neural tube formation | 75/8552 | 102/18723 | 9.68e-09 | 1.95e-07 | 75 |
GO:000184314 | Esophagus | ESCC | neural tube closure | 66/8552 | 88/18723 | 1.98e-08 | 3.82e-07 | 66 |
GO:00065136 | Esophagus | ESCC | protein monoubiquitination | 53/8552 | 67/18723 | 2.11e-08 | 4.03e-07 | 53 |
GO:001657414 | Esophagus | ESCC | histone ubiquitination | 40/8552 | 47/18723 | 2.40e-08 | 4.55e-07 | 40 |
GO:0070997111 | Esophagus | ESCC | neuron death | 216/8552 | 361/18723 | 3.49e-08 | 6.45e-07 | 216 |
GO:001402014 | Esophagus | ESCC | primary neural tube formation | 69/8552 | 94/18723 | 4.22e-08 | 7.76e-07 | 69 |
GO:006060614 | Esophagus | ESCC | tube closure | 66/8552 | 89/18723 | 4.24e-08 | 7.76e-07 | 66 |
GO:00219159 | Esophagus | ESCC | neural tube development | 101/8552 | 152/18723 | 1.78e-07 | 2.79e-06 | 101 |
GO:00163316 | Esophagus | ESCC | morphogenesis of embryonic epithelium | 98/8552 | 147/18723 | 2.12e-07 | 3.27e-06 | 98 |
GO:000183814 | Esophagus | ESCC | embryonic epithelial tube formation | 83/8552 | 121/18723 | 2.78e-07 | 4.08e-06 | 83 |
GO:009872714 | Esophagus | ESCC | maintenance of cell number | 90/8552 | 134/18723 | 3.94e-07 | 5.43e-06 | 90 |
GO:001982714 | Esophagus | ESCC | stem cell population maintenance | 88/8552 | 131/18723 | 5.23e-07 | 6.97e-06 | 88 |
GO:003514815 | Esophagus | ESCC | tube formation | 96/8552 | 148/18723 | 1.86e-06 | 2.16e-05 | 96 |
GO:0051402110 | Esophagus | ESCC | neuron apoptotic process | 148/8552 | 246/18723 | 3.08e-06 | 3.47e-05 | 148 |
GO:1901214111 | Esophagus | ESCC | regulation of neuron death | 186/8552 | 319/18723 | 3.35e-06 | 3.73e-05 | 186 |
GO:00721759 | Esophagus | ESCC | epithelial tube formation | 86/8552 | 132/18723 | 4.81e-06 | 5.10e-05 | 86 |
GO:003352213 | Esophagus | ESCC | histone H2A ubiquitination | 23/8552 | 26/18723 | 6.82e-06 | 6.90e-05 | 23 |
Hugo Symbol | Variant Class | Variant Classification | dbSNP RS | HGVSc | HGVSp | HGVSp Short | SWISSPROT | BIOTYPE | SIFT | PolyPhen | Tumor Sample Barcode | Tissue | Histology | Sex | Age | Stage | Therapy Types | Drugs | Outcome |
KDM2B | SNV | Missense_Mutation | rs781886803 | c.2659C>T | p.Arg887Trp | p.R887W | Q8NHM5 | protein_coding | deleterious_low_confidence(0) | possibly_damaging(0.908) | TCGA-A2-A0YG-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | cytoxan | SD |
KDM2B | SNV | Missense_Mutation | novel | c.1279N>A | p.Glu427Lys | p.E427K | Q8NHM5 | protein_coding | tolerated(0.15) | benign(0) | TCGA-AC-A3TN-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | SD |
KDM2B | SNV | Missense_Mutation | rs781886803 | c.2659N>T | p.Arg887Trp | p.R887W | Q8NHM5 | protein_coding | deleterious_low_confidence(0) | possibly_damaging(0.908) | TCGA-AO-A03R-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |
KDM2B | SNV | Missense_Mutation | novel | c.2157N>G | p.Cys719Trp | p.C719W | Q8NHM5 | protein_coding | deleterious(0) | probably_damaging(0.996) | TCGA-BH-A0DS-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Chemotherapy | cyclophosphamide | SD |
KDM2B | SNV | Missense_Mutation | rs782101520 | c.2773N>A | p.Glu925Lys | p.E925K | Q8NHM5 | protein_coding | tolerated_low_confidence(0.06) | possibly_damaging(0.491) | TCGA-D8-A27G-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
KDM2B | insertion | Frame_Shift_Ins | novel | c.791_792insGGAGA | p.Ile264MetfsTer39 | p.I264Mfs*39 | Q8NHM5 | protein_coding | | | TCGA-A7-A0CJ-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | SD |
KDM2B | insertion | Frame_Shift_Ins | novel | c.790_791insGTGAGTTCAGATCTCCTTGCCTCCAGTTCAC | p.Ile264SerfsTer32 | p.I264Sfs*32 | Q8NHM5 | protein_coding | | | TCGA-A7-A0CJ-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | SD |
KDM2B | insertion | Frame_Shift_Ins | novel | c.2660_2661insAGTGTTCTGTCTGGCTGGTGGGC | p.Arg888ValfsTer54 | p.R888Vfs*54 | Q8NHM5 | protein_coding | | | TCGA-AO-A03R-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |
KDM2B | insertion | Frame_Shift_Ins | novel | c.1531_1532insGCCTCGAGAGACGAACCCCTCCAGCCTTGTCAGGAAGC | p.Glu511GlyfsTer17 | p.E511Gfs*17 | Q8NHM5 | protein_coding | | | TCGA-AR-A0TY-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unspecific | Paclitaxel | PD |
KDM2B | SNV | Missense_Mutation | rs558601418 | c.3310N>T | p.Arg1104Cys | p.R1104C | Q8NHM5 | protein_coding | deleterious(0.05) | benign(0.007) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |