GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:004578710 | Esophagus | ESCC | positive regulation of cell cycle | 196/8552 | 313/18723 | 9.27e-10 | 2.24e-08 | 196 |
GO:00435888 | Esophagus | ESCC | skin development | 163/8552 | 263/18723 | 6.48e-08 | 1.14e-06 | 163 |
GO:000854410 | Esophagus | ESCC | epidermis development | 193/8552 | 324/18723 | 2.87e-07 | 4.19e-06 | 193 |
GO:000991310 | Esophagus | ESCC | epidermal cell differentiation | 122/8552 | 202/18723 | 1.69e-05 | 1.51e-04 | 122 |
GO:00452294 | Esophagus | ESCC | external encapsulating structure organization | 172/8552 | 304/18723 | 7.80e-05 | 5.80e-04 | 172 |
GO:00302167 | Esophagus | ESCC | keratinocyte differentiation | 86/8552 | 139/18723 | 8.53e-05 | 6.19e-04 | 86 |
GO:005067318 | Esophagus | ESCC | epithelial cell proliferation | 238/8552 | 437/18723 | 1.19e-04 | 8.20e-04 | 238 |
GO:005067817 | Esophagus | ESCC | regulation of epithelial cell proliferation | 206/8552 | 381/18723 | 5.51e-04 | 3.02e-03 | 206 |
GO:00436167 | Esophagus | ESCC | keratinocyte proliferation | 30/8552 | 46/18723 | 5.91e-03 | 2.18e-02 | 30 |
GO:00457879 | Oral cavity | OSCC | positive regulation of cell cycle | 173/7305 | 313/18723 | 3.28e-09 | 7.44e-08 | 173 |
GO:00435887 | Oral cavity | OSCC | skin development | 143/7305 | 263/18723 | 2.77e-07 | 4.27e-06 | 143 |
GO:00085449 | Oral cavity | OSCC | epidermis development | 171/7305 | 324/18723 | 2.89e-07 | 4.43e-06 | 171 |
GO:00302166 | Oral cavity | OSCC | keratinocyte differentiation | 81/7305 | 139/18723 | 3.16e-06 | 3.81e-05 | 81 |
GO:00099139 | Oral cavity | OSCC | epidermal cell differentiation | 109/7305 | 202/18723 | 1.08e-05 | 1.14e-04 | 109 |
GO:005067310 | Oral cavity | OSCC | epithelial cell proliferation | 212/7305 | 437/18723 | 2.82e-05 | 2.61e-04 | 212 |
GO:00452293 | Oral cavity | OSCC | external encapsulating structure organization | 147/7305 | 304/18723 | 5.30e-04 | 3.08e-03 | 147 |
GO:005067810 | Oral cavity | OSCC | regulation of epithelial cell proliferation | 180/7305 | 381/18723 | 5.88e-04 | 3.35e-03 | 180 |
GO:00436166 | Oral cavity | OSCC | keratinocyte proliferation | 28/7305 | 46/18723 | 2.19e-03 | 9.95e-03 | 28 |
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 |
TGM1 | SNV | Missense_Mutation | | c.1565N>T | p.Ala522Val | p.A522V | P22735 | protein_coding | tolerated(0.4) | benign(0.158) | TCGA-AO-A128-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |
TGM1 | SNV | Missense_Mutation | | c.1069G>C | p.Gly357Arg | p.G357R | P22735 | protein_coding | deleterious(0) | probably_damaging(0.929) | TCGA-AR-A0TV-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
TGM1 | SNV | Missense_Mutation | rs121918725 | c.832G>A | p.Gly278Arg | p.G278R | P22735 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-D8-A1JC-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | adriamycin | SD |
TGM1 | SNV | Missense_Mutation | rs143322085 | c.1763N>T | p.Ala588Val | p.A588V | P22735 | protein_coding | tolerated(0.19) | benign(0.005) | TCGA-D8-A1XQ-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
TGM1 | SNV | Missense_Mutation | | c.1669N>C | p.Val557Leu | p.V557L | P22735 | protein_coding | tolerated(0.49) | benign(0.31) | TCGA-EW-A1P4-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | docetaxel | SD |
TGM1 | insertion | Frame_Shift_Ins | novel | c.420_421insCTCCTCTTCAGGGCCTGCCTCG | p.Val141LeufsTer25 | p.V141Lfs*25 | P22735 | protein_coding | | | TCGA-A2-A04Q-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD |
TGM1 | deletion | Frame_Shift_Del | novel | c.2268delN | p.Phe756LeufsTer50 | p.F756Lfs*50 | P22735 | protein_coding | | | TCGA-D8-A27V-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
TGM1 | SNV | Missense_Mutation | | c.2318N>T | p.Pro773Leu | p.P773L | P22735 | protein_coding | tolerated(0.19) | possibly_damaging(0.76) | TCGA-A6-2686-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
TGM1 | SNV | Missense_Mutation | rs201774398 | c.65C>T | p.Thr22Met | p.T22M | P22735 | protein_coding | deleterious_low_confidence(0.03) | possibly_damaging(0.535) | TCGA-A6-5665-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
TGM1 | SNV | Missense_Mutation | novel | c.2162T>G | p.Leu721Arg | p.L721R | P22735 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-AA-3684-01 | Colorectum | colon adenocarcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |