GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:006082817 | Esophagus | ESCC | regulation of canonical Wnt signaling pathway | 153/8552 | 253/18723 | 1.38e-06 | 1.67e-05 | 153 |
GO:00715609 | Esophagus | ESCC | cellular response to transforming growth factor beta stimulus | 151/8552 | 250/18723 | 1.78e-06 | 2.10e-05 | 151 |
GO:00107184 | Esophagus | ESCC | positive regulation of epithelial to mesenchymal transition | 40/8552 | 52/18723 | 4.25e-06 | 4.56e-05 | 40 |
GO:00071799 | Esophagus | ESCC | transforming growth factor beta receptor signaling pathway | 121/8552 | 198/18723 | 8.26e-06 | 8.03e-05 | 121 |
GO:003087914 | Esophagus | ESCC | mammary gland development | 85/8552 | 137/18723 | 8.11e-05 | 6.01e-04 | 85 |
GO:0006359 | Esophagus | ESCC | regulation of transcription by RNA polymerase III | 19/8552 | 22/18723 | 9.52e-05 | 6.78e-04 | 19 |
GO:005067318 | Esophagus | ESCC | epithelial cell proliferation | 238/8552 | 437/18723 | 1.19e-04 | 8.20e-04 | 238 |
GO:00018378 | Esophagus | ESCC | epithelial to mesenchymal transition | 95/8552 | 157/18723 | 1.25e-04 | 8.56e-04 | 95 |
GO:000717810 | Esophagus | ESCC | transmembrane receptor protein serine/threonine kinase signaling pathway | 195/8552 | 355/18723 | 2.58e-04 | 1.58e-03 | 195 |
GO:003432918 | Esophagus | ESCC | cell junction assembly | 227/8552 | 420/18723 | 3.06e-04 | 1.83e-03 | 227 |
GO:005067817 | Esophagus | ESCC | regulation of epithelial cell proliferation | 206/8552 | 381/18723 | 5.51e-04 | 3.02e-03 | 206 |
GO:002240720 | Esophagus | ESCC | regulation of cell-cell adhesion | 239/8552 | 448/18723 | 5.88e-04 | 3.19e-03 | 239 |
GO:00487628 | Esophagus | ESCC | mesenchymal cell differentiation | 133/8552 | 236/18723 | 5.94e-04 | 3.22e-03 | 133 |
GO:004521620 | Esophagus | ESCC | cell-cell junction organization | 114/8552 | 200/18723 | 8.04e-04 | 4.16e-03 | 114 |
GO:00107174 | Esophagus | ESCC | regulation of epithelial to mesenchymal transition | 61/8552 | 99/18723 | 1.01e-03 | 5.09e-03 | 61 |
GO:003359815 | Esophagus | ESCC | mammary gland epithelial cell proliferation | 20/8552 | 26/18723 | 1.19e-03 | 5.88e-03 | 20 |
GO:00611807 | Esophagus | ESCC | mammary gland epithelium development | 43/8552 | 67/18723 | 1.73e-03 | 7.97e-03 | 43 |
GO:00170156 | Esophagus | ESCC | regulation of transforming growth factor beta receptor signaling pathway | 75/8552 | 128/18723 | 2.19e-03 | 9.71e-03 | 75 |
GO:19038447 | Esophagus | ESCC | regulation of cellular response to transforming growth factor beta stimulus | 76/8552 | 131/18723 | 2.96e-03 | 1.24e-02 | 76 |
GO:00604856 | Esophagus | ESCC | mesenchyme development | 156/8552 | 291/18723 | 3.76e-03 | 1.53e-02 | 156 |
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 |
ZNF7 | SNV | Missense_Mutation | novel | c.1276T>G | p.Cys426Gly | p.C426G | P17097 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-A8-A09M-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Chemotherapy | paclitaxel | CR |
ZNF7 | SNV | Missense_Mutation | rs200609680 | c.693N>C | p.Gln231His | p.Q231H | P17097 | protein_coding | deleterious(0) | benign(0.276) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
ZNF7 | SNV | Missense_Mutation | rs548449450 | c.784N>A | p.Glu262Lys | p.E262K | P17097 | protein_coding | tolerated(0.56) | benign(0.003) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
ZNF7 | SNV | Missense_Mutation | novel | c.615N>A | p.Met205Ile | p.M205I | P17097 | protein_coding | tolerated(0.24) | benign(0) | TCGA-LL-A8F5-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cyclophosphamide | SD |
ZNF7 | insertion | Nonsense_Mutation | novel | c.1045_1046insGTTTCTGATTCTGAGGTCTGGTT | p.Glu349GlyfsTer3 | p.E349Gfs*3 | P17097 | protein_coding | | | TCGA-A7-A0CE-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD |
ZNF7 | insertion | In_Frame_Ins | novel | c.486_487insTCTTGGCAGCTCTTCCAGCCT | p.Asn162_Cys163insSerTrpGlnLeuPheGlnPro | p.N162_C163insSWQLFQP | P17097 | protein_coding | | | TCGA-A8-A06X-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
ZNF7 | insertion | Nonsense_Mutation | novel | c.1818_1819insTCACACTGGAGAAAAACCATTTAAATGTGATGAGTGTGGCAAAGG | p.Tyr606_Leu607insSerHisTrpArgLysThrIleTerMetTerTerValTrpGlnArg | p.Y606_L607insSHWRKTI*M**VWQR | P17097 | protein_coding | | | TCGA-A8-A095-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | 5-fluorouracil | CR |
ZNF7 | insertion | Frame_Shift_Ins | novel | c.1111_1112insACAGGACTTTCCTCAGAATCCTGGCTTTGGAGACGTTTCT | p.Arg371AsnfsTer68 | p.R371Nfs*68 | P17097 | protein_coding | | | TCGA-A8-A097-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | tamoxiphen | SD |
ZNF7 | insertion | In_Frame_Ins | novel | c.435_436insAGTGAA | p.Ser145_His146insSerGlu | p.S145_H146insSE | P17097 | protein_coding | | | TCGA-B6-A0RE-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
ZNF7 | insertion | Frame_Shift_Ins | novel | c.437_438insAGGTAAAAAGTATGAAACCACT | p.His146GlnfsTer24 | p.H146Qfs*24 | P17097 | protein_coding | | | TCGA-B6-A0RE-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |