GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:000915026 | Esophagus | HGIN | purine ribonucleotide metabolic process | 71/2587 | 368/18723 | 2.00e-03 | 2.11e-02 | 71 |
GO:000616325 | Esophagus | HGIN | purine nucleotide metabolic process | 75/2587 | 396/18723 | 2.53e-03 | 2.51e-02 | 75 |
GO:001969320 | Esophagus | HGIN | ribose phosphate metabolic process | 75/2587 | 396/18723 | 2.53e-03 | 2.51e-02 | 75 |
GO:007252125 | Esophagus | HGIN | purine-containing compound metabolic process | 78/2587 | 416/18723 | 2.78e-03 | 2.73e-02 | 78 |
GO:000925920 | Esophagus | HGIN | ribonucleotide metabolic process | 71/2587 | 385/18723 | 6.25e-03 | 4.97e-02 | 71 |
GO:0022613111 | Esophagus | ESCC | ribonucleoprotein complex biogenesis | 365/8552 | 463/18723 | 1.74e-49 | 1.11e-45 | 365 |
GO:0042254111 | Esophagus | ESCC | ribosome biogenesis | 252/8552 | 299/18723 | 3.27e-44 | 1.04e-40 | 252 |
GO:0009896111 | Esophagus | ESCC | positive regulation of catabolic process | 332/8552 | 492/18723 | 4.36e-23 | 9.22e-21 | 332 |
GO:0031331111 | Esophagus | ESCC | positive regulation of cellular catabolic process | 292/8552 | 427/18723 | 8.67e-22 | 1.53e-19 | 292 |
GO:1903311110 | Esophagus | ESCC | regulation of mRNA metabolic process | 210/8552 | 288/18723 | 3.25e-21 | 5.56e-19 | 210 |
GO:0006401110 | Esophagus | ESCC | RNA catabolic process | 204/8552 | 278/18723 | 3.39e-21 | 5.66e-19 | 204 |
GO:0034655110 | Esophagus | ESCC | nucleobase-containing compound catabolic process | 272/8552 | 407/18723 | 2.92e-18 | 2.90e-16 | 272 |
GO:0006402110 | Esophagus | ESCC | mRNA catabolic process | 170/8552 | 232/18723 | 8.70e-18 | 8.00e-16 | 170 |
GO:004670018 | Esophagus | ESCC | heterocycle catabolic process | 286/8552 | 445/18723 | 1.12e-15 | 7.47e-14 | 286 |
GO:004427019 | Esophagus | ESCC | cellular nitrogen compound catabolic process | 288/8552 | 451/18723 | 3.03e-15 | 1.79e-13 | 288 |
GO:001943918 | Esophagus | ESCC | aromatic compound catabolic process | 295/8552 | 467/18723 | 1.09e-14 | 5.98e-13 | 295 |
GO:190136118 | Esophagus | ESCC | organic cyclic compound catabolic process | 307/8552 | 495/18723 | 9.99e-14 | 4.80e-12 | 307 |
GO:190331316 | Esophagus | ESCC | positive regulation of mRNA metabolic process | 87/8552 | 118/18723 | 5.10e-10 | 1.32e-08 | 87 |
GO:006101319 | Esophagus | ESCC | regulation of mRNA catabolic process | 115/8552 | 166/18723 | 5.90e-10 | 1.49e-08 | 115 |
GO:0006753110 | Esophagus | ESCC | nucleoside phosphate metabolic process | 288/8552 | 497/18723 | 1.80e-08 | 3.50e-07 | 288 |
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 |