GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:0045185111 | Esophagus | ESCC | maintenance of protein location | 71/8552 | 94/18723 | 3.41e-09 | 7.24e-08 | 71 |
GO:0051235110 | Esophagus | ESCC | maintenance of location | 200/8552 | 327/18723 | 1.01e-08 | 2.02e-07 | 200 |
GO:00715599 | Esophagus | ESCC | response to transforming growth factor beta | 157/8552 | 256/18723 | 2.95e-07 | 4.23e-06 | 157 |
GO:000164918 | Esophagus | ESCC | osteoblast differentiation | 140/8552 | 229/18723 | 1.63e-06 | 1.95e-05 | 140 |
GO:00715609 | Esophagus | ESCC | cellular response to transforming growth factor beta stimulus | 151/8552 | 250/18723 | 1.78e-06 | 2.10e-05 | 151 |
GO:000150317 | Esophagus | ESCC | ossification | 232/8552 | 408/18723 | 3.00e-06 | 3.40e-05 | 232 |
GO:00071799 | Esophagus | ESCC | transforming growth factor beta receptor signaling pathway | 121/8552 | 198/18723 | 8.26e-06 | 8.03e-05 | 121 |
GO:000717810 | Esophagus | ESCC | transmembrane receptor protein serine/threonine kinase signaling pathway | 195/8552 | 355/18723 | 2.58e-04 | 1.58e-03 | 195 |
GO:00485687 | Esophagus | ESCC | embryonic organ development | 228/8552 | 427/18723 | 7.28e-04 | 3.79e-03 | 228 |
GO:00487367 | Esophagus | ESCC | appendage development | 98/8552 | 172/18723 | 1.83e-03 | 8.37e-03 | 98 |
GO:00601737 | Esophagus | ESCC | limb development | 98/8552 | 172/18723 | 1.83e-03 | 8.37e-03 | 98 |
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:00456675 | Esophagus | ESCC | regulation of osteoblast differentiation | 77/8552 | 132/18723 | 2.28e-03 | 1.00e-02 | 77 |
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:00456695 | Esophagus | ESCC | positive regulation of osteoblast differentiation | 43/8552 | 69/18723 | 3.93e-03 | 1.59e-02 | 43 |
GO:00487052 | Esophagus | ESCC | skeletal system morphogenesis | 120/8552 | 220/18723 | 4.90e-03 | 1.89e-02 | 120 |
GO:007169210 | Esophagus | ESCC | protein localization to extracellular region | 193/8552 | 368/18723 | 5.01e-03 | 1.92e-02 | 193 |
GO:0045185113 | Thyroid | PTC | maintenance of protein location | 64/5968 | 94/18723 | 5.92e-13 | 2.85e-11 | 64 |
GO:007155919 | Thyroid | PTC | response to transforming growth factor beta | 131/5968 | 256/18723 | 9.20e-11 | 3.17e-09 | 131 |
GO:007156019 | Thyroid | PTC | cellular response to transforming growth factor beta stimulus | 126/5968 | 250/18723 | 7.34e-10 | 2.19e-08 | 126 |
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 |
FBN2 | SNV | Missense_Mutation | rs200037196 | c.5464G>T | p.Gly1822Cys | p.G1822C | P35556 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-A5-A1OF-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
FBN2 | SNV | Missense_Mutation | novel | c.4175A>G | p.Lys1392Arg | p.K1392R | P35556 | protein_coding | tolerated(0.2) | benign(0.003) | TCGA-A5-A1OF-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
FBN2 | SNV | Missense_Mutation | novel | c.4079A>C | p.Lys1360Thr | p.K1360T | P35556 | protein_coding | deleterious(0.04) | probably_damaging(0.997) | TCGA-A5-A1OF-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
FBN2 | SNV | Missense_Mutation | novel | c.6766N>A | p.Glu2256Lys | p.E2256K | P35556 | protein_coding | deleterious(0.01) | probably_damaging(0.995) | TCGA-A5-A2K5-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
FBN2 | SNV | Missense_Mutation | novel | c.3499N>T | p.Leu1167Phe | p.L1167F | P35556 | protein_coding | tolerated(0.2) | possibly_damaging(0.678) | TCGA-A5-A2K5-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
FBN2 | SNV | Missense_Mutation | | c.2200N>T | p.Asp734Tyr | p.D734Y | P35556 | protein_coding | deleterious(0) | possibly_damaging(0.837) | TCGA-A5-A2K5-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
FBN2 | SNV | Missense_Mutation | rs780589159 | c.1961N>A | p.Arg654His | p.R654H | P35556 | protein_coding | tolerated(0.16) | probably_damaging(0.997) | TCGA-A5-A2K5-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
FBN2 | SNV | Missense_Mutation | rs761958762 | c.3202N>T | p.Arg1068Trp | p.R1068W | P35556 | protein_coding | deleterious(0) | probably_damaging(0.99) | TCGA-AJ-A3BG-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Chemotherapy | carboplatin | PD |
FBN2 | SNV | Missense_Mutation | | c.1774G>A | p.Val592Met | p.V592M | P35556 | protein_coding | deleterious(0.01) | probably_damaging(0.997) | TCGA-AJ-A3EK-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Chemotherapy | carboplatin | CR |
FBN2 | SNV | Missense_Mutation | novel | c.6341N>A | p.Ser2114Tyr | p.S2114Y | P35556 | protein_coding | deleterious(0.01) | possibly_damaging(0.9) | TCGA-AJ-A3EL-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |