GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:003466012 | Esophagus | ESCC | ncRNA metabolic process | 346/8552 | 485/18723 | 4.35e-31 | 2.51e-28 | 346 |
GO:003450418 | Esophagus | ESCC | protein localization to nucleus | 211/8552 | 290/18723 | 4.06e-21 | 6.60e-19 | 211 |
GO:0051098111 | Esophagus | ESCC | regulation of binding | 251/8552 | 363/18723 | 6.73e-20 | 8.46e-18 | 251 |
GO:1903829111 | Esophagus | ESCC | positive regulation of cellular protein localization | 199/8552 | 276/18723 | 2.99e-19 | 3.45e-17 | 199 |
GO:004477216 | Esophagus | ESCC | mitotic cell cycle phase transition | 281/8552 | 424/18723 | 4.63e-18 | 4.45e-16 | 281 |
GO:000734615 | Esophagus | ESCC | regulation of mitotic cell cycle | 293/8552 | 457/18723 | 8.00e-16 | 5.64e-14 | 293 |
GO:190018018 | Esophagus | ESCC | regulation of protein localization to nucleus | 102/8552 | 136/18723 | 2.84e-12 | 1.13e-10 | 102 |
GO:190018217 | Esophagus | ESCC | positive regulation of protein localization to nucleus | 70/8552 | 87/18723 | 2.63e-11 | 8.99e-10 | 70 |
GO:190198713 | Esophagus | ESCC | regulation of cell cycle phase transition | 242/8552 | 390/18723 | 3.86e-11 | 1.26e-09 | 242 |
GO:190199013 | Esophagus | ESCC | regulation of mitotic cell cycle phase transition | 191/8552 | 299/18723 | 1.35e-10 | 3.94e-09 | 191 |
GO:00434143 | Esophagus | ESCC | macromolecule methylation | 199/8552 | 316/18723 | 3.44e-10 | 9.57e-09 | 199 |
GO:004578710 | Esophagus | ESCC | positive regulation of cell cycle | 196/8552 | 313/18723 | 9.27e-10 | 2.24e-08 | 196 |
GO:00322592 | Esophagus | ESCC | methylation | 222/8552 | 364/18723 | 2.26e-09 | 5.09e-08 | 222 |
GO:00094512 | Esophagus | ESCC | RNA modification | 114/8552 | 167/18723 | 2.76e-09 | 6.04e-08 | 114 |
GO:0051100111 | Esophagus | ESCC | negative regulation of binding | 109/8552 | 162/18723 | 2.10e-08 | 4.03e-07 | 109 |
GO:00987812 | Esophagus | ESCC | ncRNA transcription | 45/8552 | 56/18723 | 1.05e-07 | 1.72e-06 | 45 |
GO:004593116 | Esophagus | ESCC | positive regulation of mitotic cell cycle | 83/8552 | 121/18723 | 2.78e-07 | 4.08e-06 | 83 |
GO:000008214 | Esophagus | ESCC | G1/S transition of mitotic cell cycle | 134/8552 | 214/18723 | 4.04e-07 | 5.55e-06 | 134 |
GO:004484314 | Esophagus | ESCC | cell cycle G1/S phase transition | 148/8552 | 241/18723 | 5.68e-07 | 7.48e-06 | 148 |
GO:19019896 | Esophagus | ESCC | positive regulation of cell cycle phase transition | 77/8552 | 115/18723 | 3.20e-06 | 3.58e-05 | 77 |
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 |
MEPCE | SNV | Missense_Mutation | rs754062405 | c.536N>G | p.Ser179Cys | p.S179C | Q7L2J0 | protein_coding | tolerated(0.11) | benign(0.417) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
MEPCE | SNV | Missense_Mutation | | c.1313N>C | p.Lys438Thr | p.K438T | Q7L2J0 | protein_coding | deleterious(0.03) | benign(0.11) | TCGA-AO-A128-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |
MEPCE | SNV | Missense_Mutation | | c.1933N>C | p.Glu645Gln | p.E645Q | Q7L2J0 | protein_coding | tolerated(0.1) | possibly_damaging(0.659) | TCGA-D8-A1JN-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Hormone Therapy | anastrozolum | SD |
MEPCE | SNV | Missense_Mutation | novel | c.1087N>T | p.Arg363Cys | p.R363C | Q7L2J0 | protein_coding | deleterious(0) | probably_damaging(0.985) | TCGA-GM-A3XL-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | fluorouracil | CR |
MEPCE | SNV | Missense_Mutation | novel | c.1525G>A | p.Glu509Lys | p.E509K | Q7L2J0 | protein_coding | tolerated(0.09) | benign(0.003) | TCGA-PE-A5DE-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | taxotere | CR |
MEPCE | insertion | Frame_Shift_Ins | novel | c.1909_1910insGTTTCGGGGCCGGG | p.Tyr637CysfsTer11 | p.Y637Cfs*11 | Q7L2J0 | protein_coding | | | TCGA-B6-A0IA-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
MEPCE | insertion | Frame_Shift_Ins | novel | c.1911_1912insGTCC | p.Tyr638ValfsTer26 | p.Y638Vfs*26 | Q7L2J0 | protein_coding | | | TCGA-B6-A0IA-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
MEPCE | deletion | Frame_Shift_Del | novel | c.2037delN | p.Leu680CysfsTer19 | p.L680Cfs*19 | Q7L2J0 | protein_coding | | | TCGA-D8-A27V-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
MEPCE | SNV | Missense_Mutation | novel | c.1088G>A | p.Arg363His | p.R363H | Q7L2J0 | protein_coding | deleterious(0.05) | probably_damaging(0.98) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
MEPCE | SNV | Missense_Mutation | novel | c.1058C>G | p.Ser353Cys | p.S353C | Q7L2J0 | protein_coding | deleterious(0.01) | benign(0.156) | TCGA-DG-A2KK-01 | Cervix | cervical & endocervical cancer | Female | <65 | III/IV | Chemotherapy | cisplatin | SD |