GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:190331120 | Esophagus | HGIN | regulation of mRNA metabolic process | 91/2587 | 288/18723 | 5.06e-15 | 9.78e-13 | 91 |
GO:000989626 | Esophagus | HGIN | positive regulation of catabolic process | 126/2587 | 492/18723 | 1.46e-12 | 2.09e-10 | 126 |
GO:003133126 | Esophagus | HGIN | positive regulation of cellular catabolic process | 112/2587 | 427/18723 | 5.15e-12 | 6.72e-10 | 112 |
GO:000914419 | Esophagus | HGIN | purine nucleoside triphosphate metabolic process | 36/2587 | 88/18723 | 3.49e-10 | 3.05e-08 | 36 |
GO:000640120 | Esophagus | HGIN | RNA catabolic process | 77/2587 | 278/18723 | 7.63e-10 | 6.36e-08 | 77 |
GO:000640220 | Esophagus | HGIN | mRNA catabolic process | 67/2587 | 232/18723 | 1.47e-09 | 1.13e-07 | 67 |
GO:000920518 | Esophagus | HGIN | purine ribonucleoside triphosphate metabolic process | 33/2587 | 82/18723 | 3.10e-09 | 2.27e-07 | 33 |
GO:003465519 | Esophagus | HGIN | nucleobase-containing compound catabolic process | 98/2587 | 407/18723 | 1.44e-08 | 8.94e-07 | 98 |
GO:000914120 | Esophagus | HGIN | nucleoside triphosphate metabolic process | 39/2587 | 112/18723 | 1.56e-08 | 9.53e-07 | 39 |
GO:000919917 | Esophagus | HGIN | ribonucleoside triphosphate metabolic process | 33/2587 | 89/18723 | 3.42e-08 | 1.97e-06 | 33 |
GO:004670017 | Esophagus | HGIN | heterocycle catabolic process | 103/2587 | 445/18723 | 5.44e-08 | 2.99e-06 | 103 |
GO:004427018 | Esophagus | HGIN | cellular nitrogen compound catabolic process | 103/2587 | 451/18723 | 1.10e-07 | 5.56e-06 | 103 |
GO:001943917 | Esophagus | HGIN | aromatic compound catabolic process | 105/2587 | 467/18723 | 1.89e-07 | 9.31e-06 | 105 |
GO:190331310 | Esophagus | HGIN | positive regulation of mRNA metabolic process | 38/2587 | 118/18723 | 2.46e-07 | 1.16e-05 | 38 |
GO:000641418 | Esophagus | HGIN | translational elongation | 22/2587 | 55/18723 | 1.46e-06 | 5.56e-05 | 22 |
GO:190136117 | Esophagus | HGIN | organic cyclic compound catabolic process | 106/2587 | 495/18723 | 1.94e-06 | 7.13e-05 | 106 |
GO:006101318 | Esophagus | HGIN | regulation of mRNA catabolic process | 43/2587 | 166/18723 | 2.48e-05 | 6.53e-04 | 43 |
GO:006101410 | Esophagus | HGIN | positive regulation of mRNA catabolic process | 24/2587 | 87/18723 | 5.46e-04 | 7.73e-03 | 24 |
GO:000911720 | Esophagus | HGIN | nucleotide metabolic process | 92/2587 | 489/18723 | 1.11e-03 | 1.36e-02 | 92 |
GO:000675320 | Esophagus | HGIN | nucleoside phosphate metabolic process | 93/2587 | 497/18723 | 1.25e-03 | 1.49e-02 | 93 |
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 |
GTPBP1 | SNV | Missense_Mutation | | c.801G>C | p.Met267Ile | p.M267I | O00178 | protein_coding | deleterious(0) | possibly_damaging(0.595) | TCGA-A7-A0DA-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD |
GTPBP1 | insertion | Nonsense_Mutation | novel | c.1864_1865insTTGCCAAGGCTGGTCTCAAAACTCTTGGCTTGAAGTAAT | p.Ala622delinsValAlaLysAlaGlyLeuLysThrLeuGlyLeuLysTerSer | p.A622delinsVAKAGLKTLGLK*S | O00178 | protein_coding | | | TCGA-A2-A0CP-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | SD |
GTPBP1 | deletion | Frame_Shift_Del | novel | c.717_723delNNNNNNN | p.Ile240ArgfsTer19 | p.I240Rfs*19 | O00178 | protein_coding | | | TCGA-A2-A0CR-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | CR |
GTPBP1 | insertion | Frame_Shift_Ins | novel | c.764_765insGGGTTATGATGGTCGCTCCACCTCACTCATTCAC | p.His256GlyfsTer13 | p.H256Gfs*13 | O00178 | protein_coding | | | TCGA-A2-A0D1-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | taxotere | SD |
GTPBP1 | SNV | Missense_Mutation | novel | c.1008N>T | p.Lys336Asn | p.K336N | O00178 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
GTPBP1 | SNV | Missense_Mutation | novel | c.1720N>A | p.Leu574Ile | p.L574I | O00178 | protein_coding | tolerated(0.43) | benign(0.014) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
GTPBP1 | SNV | Missense_Mutation | | c.508N>A | p.Asp170Asn | p.D170N | O00178 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-C5-A7X3-01 | Cervix | cervical & endocervical cancer | Female | >=65 | III/IV | Chemotherapy | cisplatin | SD |
GTPBP1 | SNV | Missense_Mutation | rs774067054 | c.20N>A | p.Arg7His | p.R7H | O00178 | protein_coding | deleterious_low_confidence(0.01) | probably_damaging(0.964) | TCGA-LP-A7HU-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
GTPBP1 | SNV | Missense_Mutation | | c.1925N>T | p.Pro642Leu | p.P642L | O00178 | protein_coding | tolerated_low_confidence(0.1) | benign(0.003) | TCGA-AA-3821-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
GTPBP1 | SNV | Missense_Mutation | rs763639124 | c.1628N>A | p.Arg543His | p.R543H | O00178 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-AA-A00N-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | PD |