GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:1901361110 | Skin | cSCC | organic cyclic compound catabolic process | 188/4864 | 495/18723 | 1.92e-09 | 7.01e-08 | 188 |
GO:0043487110 | Skin | cSCC | regulation of RNA stability | 80/4864 | 170/18723 | 2.39e-09 | 8.52e-08 | 80 |
GO:004348824 | Skin | cSCC | regulation of mRNA stability | 75/4864 | 158/18723 | 4.64e-09 | 1.55e-07 | 75 |
GO:000030228 | Skin | cSCC | response to reactive oxygen species | 97/4864 | 222/18723 | 6.88e-09 | 2.25e-07 | 97 |
GO:00905014 | Skin | cSCC | RNA phosphodiester bond hydrolysis | 71/4864 | 152/18723 | 2.72e-08 | 7.41e-07 | 71 |
GO:190198714 | Skin | cSCC | regulation of cell cycle phase transition | 150/4864 | 390/18723 | 3.21e-08 | 8.61e-07 | 150 |
GO:003459928 | Skin | cSCC | cellular response to oxidative stress | 117/4864 | 288/18723 | 3.37e-08 | 8.95e-07 | 117 |
GO:004254227 | Skin | cSCC | response to hydrogen peroxide | 68/4864 | 146/18723 | 6.10e-08 | 1.56e-06 | 68 |
GO:004578717 | Skin | cSCC | positive regulation of cell cycle | 120/4864 | 313/18723 | 8.95e-07 | 1.64e-05 | 120 |
GO:007180610 | Skin | cSCC | protein transmembrane transport | 33/4864 | 59/18723 | 9.93e-07 | 1.78e-05 | 33 |
GO:004593118 | Skin | cSCC | positive regulation of mitotic cell cycle | 56/4864 | 121/18723 | 1.11e-06 | 1.96e-05 | 56 |
GO:000756827 | Skin | cSCC | aging | 127/4864 | 339/18723 | 1.80e-06 | 3.02e-05 | 127 |
GO:004343426 | Skin | cSCC | response to peptide hormone | 150/4864 | 414/18723 | 2.11e-06 | 3.43e-05 | 150 |
GO:003220015 | Skin | cSCC | telomere organization | 68/4864 | 159/18723 | 2.94e-06 | 4.62e-05 | 68 |
GO:000008222 | Skin | cSCC | G1/S transition of mitotic cell cycle | 85/4864 | 214/18723 | 6.90e-06 | 9.60e-05 | 85 |
GO:009006815 | Skin | cSCC | positive regulation of cell cycle process | 92/4864 | 236/18723 | 7.33e-06 | 1.01e-04 | 92 |
GO:00650027 | Skin | cSCC | intracellular protein transmembrane transport | 28/4864 | 51/18723 | 1.05e-05 | 1.37e-04 | 28 |
GO:002240610 | Skin | cSCC | membrane docking | 41/4864 | 86/18723 | 1.20e-05 | 1.53e-04 | 41 |
GO:190199212 | Skin | cSCC | positive regulation of mitotic cell cycle phase transition | 43/4864 | 93/18723 | 1.94e-05 | 2.28e-04 | 43 |
GO:004484322 | Skin | cSCC | cell cycle G1/S phase transition | 92/4864 | 241/18723 | 1.95e-05 | 2.28e-04 | 92 |
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 |
PEX1 | SNV | Missense_Mutation | | c.749G>A | p.Gly250Glu | p.G250E | O43933 | protein_coding | tolerated(0.06) | possibly_damaging(0.896) | TCGA-A2-A0YK-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | SD |
PEX1 | SNV | Missense_Mutation | novel | c.171C>A | p.Phe57Leu | p.F57L | O43933 | protein_coding | tolerated(0.09) | benign(0.298) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
PEX1 | SNV | Missense_Mutation | novel | c.3025N>C | p.Asp1009His | p.D1009H | O43933 | protein_coding | deleterious(0) | probably_damaging(0.946) | TCGA-BH-A0B6-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
PEX1 | SNV | Missense_Mutation | rs780349018 | c.1285G>A | p.Val429Ile | p.V429I | O43933 | protein_coding | tolerated(0.11) | benign(0.083) | TCGA-BH-A0BP-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
PEX1 | SNV | Missense_Mutation | | c.3581A>G | p.Asp1194Gly | p.D1194G | O43933 | protein_coding | deleterious(0) | benign(0.133) | TCGA-E9-A1R7-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | fareston | SD |
PEX1 | SNV | Missense_Mutation | | c.3146N>G | p.Ala1049Gly | p.A1049G | O43933 | protein_coding | deleterious(0) | probably_damaging(0.949) | TCGA-E9-A244-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cyclophosphamide | SD |
PEX1 | SNV | Missense_Mutation | | c.1970N>G | p.Ser657Cys | p.S657C | O43933 | protein_coding | deleterious(0) | probably_damaging(0.995) | TCGA-GM-A2DO-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | CR |
PEX1 | insertion | Frame_Shift_Ins | novel | c.429dupT | p.Pro144SerfsTer5 | p.P144Sfs*5 | O43933 | protein_coding | | | TCGA-A8-A09Z-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
PEX1 | insertion | Frame_Shift_Ins | novel | c.437_438insCTTAGATA | p.Trp146CysfsTer18 | p.W146Cfs*18 | O43933 | protein_coding | | | TCGA-AO-A0JB-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | cyclophosphamide | SD |
PEX1 | SNV | Missense_Mutation | novel | c.1883N>G | p.Asp628Gly | p.D628G | O43933 | protein_coding | deleterious(0.01) | benign(0.024) | TCGA-5M-AAT6-01 | Colorectum | colon adenocarcinoma | Female | <65 | III/IV | Unknown | Unknown | PD |