GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:003009920 | Oral cavity | OSCC | myeloid cell differentiation | 213/7305 | 381/18723 | 1.24e-11 | 4.42e-10 | 213 |
GO:005123518 | Oral cavity | OSCC | maintenance of location | 182/7305 | 327/18723 | 6.16e-10 | 1.58e-08 | 182 |
GO:004518520 | Oral cavity | OSCC | maintenance of protein location | 65/7305 | 94/18723 | 3.00e-09 | 6.88e-08 | 65 |
GO:190165316 | Oral cavity | OSCC | cellular response to peptide | 194/7305 | 359/18723 | 4.31e-09 | 9.57e-08 | 194 |
GO:000257310 | Oral cavity | OSCC | myeloid leukocyte differentiation | 119/7305 | 208/18723 | 7.29e-08 | 1.29e-06 | 119 |
GO:00715598 | Oral cavity | OSCC | response to transforming growth factor beta | 140/7305 | 256/18723 | 2.34e-07 | 3.70e-06 | 140 |
GO:00715608 | Oral cavity | OSCC | cellular response to transforming growth factor beta stimulus | 137/7305 | 250/18723 | 2.68e-07 | 4.15e-06 | 137 |
GO:007137510 | Oral cavity | OSCC | cellular response to peptide hormone stimulus | 153/7305 | 290/18723 | 1.23e-06 | 1.63e-05 | 153 |
GO:004343419 | Oral cavity | OSCC | response to peptide hormone | 208/7305 | 414/18723 | 1.83e-06 | 2.35e-05 | 208 |
GO:00071798 | Oral cavity | OSCC | transforming growth factor beta receptor signaling pathway | 109/7305 | 198/18723 | 3.21e-06 | 3.86e-05 | 109 |
GO:00097918 | Oral cavity | OSCC | post-embryonic development | 51/7305 | 80/18723 | 6.43e-06 | 7.13e-05 | 51 |
GO:00336274 | Oral cavity | OSCC | cell adhesion mediated by integrin | 46/7305 | 72/18723 | 1.66e-05 | 1.64e-04 | 46 |
GO:190370618 | Oral cavity | OSCC | regulation of hemopoiesis | 180/7305 | 367/18723 | 5.16e-05 | 4.30e-04 | 180 |
GO:00170155 | Oral cavity | OSCC | regulation of transforming growth factor beta receptor signaling pathway | 71/7305 | 128/18723 | 1.14e-04 | 8.34e-04 | 71 |
GO:19038446 | Oral cavity | OSCC | regulation of cellular response to transforming growth factor beta stimulus | 72/7305 | 131/18723 | 1.51e-04 | 1.06e-03 | 72 |
GO:00485693 | Oral cavity | OSCC | post-embryonic animal organ development | 13/7305 | 15/18723 | 2.07e-04 | 1.36e-03 | 13 |
GO:000268310 | Oral cavity | OSCC | negative regulation of immune system process | 204/7305 | 434/18723 | 3.72e-04 | 2.27e-03 | 204 |
GO:004563720 | Oral cavity | OSCC | regulation of myeloid cell differentiation | 106/7305 | 210/18723 | 4.58e-04 | 2.76e-03 | 106 |
GO:19021059 | Oral cavity | OSCC | regulation of leukocyte differentiation | 136/7305 | 279/18723 | 5.53e-04 | 3.21e-03 | 136 |
GO:00016558 | Oral cavity | OSCC | urogenital system development | 160/7305 | 338/18723 | 1.03e-03 | 5.31e-03 | 160 |
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 |
FBN1 | SNV | Missense_Mutation | | c.2428N>A | p.Glu810Lys | p.E810K | P35555 | protein_coding | deleterious(0) | probably_damaging(0.978) | TCGA-FI-A2D0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
FBN1 | SNV | Missense_Mutation | novel | c.8531N>G | p.Gln2844Arg | p.Q2844R | P35555 | protein_coding | tolerated(0.26) | benign(0.003) | TCGA-FI-A2D5-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatinum | PD |
FBN1 | SNV | Missense_Mutation | novel | c.4397G>A | p.Gly1466Asp | p.G1466D | P35555 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-SJ-A6ZI-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
FBN1 | deletion | Frame_Shift_Del | novel | c.905delN | p.Gly302ValfsTer28 | p.G302Vfs*28 | P35555 | protein_coding | | | TCGA-AX-A3G8-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
FBN1 | insertion | Frame_Shift_Ins | novel | c.4204_4205insT | p.Cys1402LeufsTer5 | p.C1402Lfs*5 | P35555 | protein_coding | | | TCGA-B5-A11G-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
FBN1 | insertion | Nonsense_Mutation | novel | c.6742_6743insGAAAGTAA | p.Glu2248GlyfsTer3 | p.E2248Gfs*3 | P35555 | protein_coding | | | TCGA-BG-A0MS-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatin | SD |
FBN1 | insertion | Nonsense_Mutation | novel | c.171_172insTAGATA | p.Asn57_Val58insTer | p.N57_V58ins* | P35555 | protein_coding | | | TCGA-BG-A0YU-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
FBN1 | insertion | Frame_Shift_Ins | novel | c.7384_7385insGAAAG | p.Thr2462ArgfsTer222 | p.T2462Rfs*222 | P35555 | protein_coding | | | TCGA-BS-A0TD-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
FBN1 | insertion | Frame_Shift_Ins | novel | c.775_776insTA | p.Gly259ValfsTer72 | p.G259Vfs*72 | P35555 | protein_coding | | | TCGA-D1-A0ZR-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
FBN1 | insertion | Frame_Shift_Ins | novel | c.7378_7379insTAAAGAATAAATAC | p.Lys2460IlefsTer227 | p.K2460Ifs*227 | P35555 | protein_coding | | | TCGA-D1-A0ZU-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Chemotherapy | carboplatin | SD |