GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:004339310 | Endometrium | AEH | regulation of protein binding | 42/2100 | 196/18723 | 2.58e-05 | 4.86e-04 | 42 |
GO:00400134 | Endometrium | AEH | negative regulation of locomotion | 70/2100 | 391/18723 | 4.95e-05 | 8.05e-04 | 70 |
GO:00329848 | Endometrium | AEH | protein-containing complex disassembly | 45/2100 | 224/18723 | 7.16e-05 | 1.10e-03 | 45 |
GO:00194399 | Endometrium | AEH | aromatic compound catabolic process | 80/2100 | 467/18723 | 7.21e-05 | 1.10e-03 | 80 |
GO:003461415 | Endometrium | AEH | cellular response to reactive oxygen species | 34/2100 | 155/18723 | 9.00e-05 | 1.30e-03 | 34 |
GO:19013619 | Endometrium | AEH | organic cyclic compound catabolic process | 83/2100 | 495/18723 | 1.13e-04 | 1.60e-03 | 83 |
GO:19016539 | Endometrium | AEH | cellular response to peptide | 64/2100 | 359/18723 | 1.16e-04 | 1.63e-03 | 64 |
GO:004545410 | Endometrium | AEH | cell redox homeostasis | 12/2100 | 35/18723 | 2.69e-04 | 3.12e-03 | 12 |
GO:00457877 | Endometrium | AEH | positive regulation of cell cycle | 56/2100 | 313/18723 | 2.73e-04 | 3.14e-03 | 56 |
GO:004343410 | Endometrium | AEH | response to peptide hormone | 70/2100 | 414/18723 | 2.93e-04 | 3.35e-03 | 70 |
GO:000756810 | Endometrium | AEH | aging | 59/2100 | 339/18723 | 4.00e-04 | 4.28e-03 | 59 |
GO:00307058 | Endometrium | AEH | cytoskeleton-dependent intracellular transport | 38/2100 | 195/18723 | 4.72e-04 | 4.91e-03 | 38 |
GO:000072310 | Endometrium | AEH | telomere maintenance | 28/2100 | 131/18723 | 5.62e-04 | 5.62e-03 | 28 |
GO:005110010 | Endometrium | AEH | negative regulation of binding | 32/2100 | 162/18723 | 1.00e-03 | 8.94e-03 | 32 |
GO:005159116 | Endometrium | AEH | response to cAMP | 21/2100 | 93/18723 | 1.27e-03 | 1.09e-02 | 21 |
GO:00713758 | Endometrium | AEH | cellular response to peptide hormone stimulus | 49/2100 | 290/18723 | 2.24e-03 | 1.72e-02 | 49 |
GO:00447726 | Endometrium | AEH | mitotic cell cycle phase transition | 67/2100 | 424/18723 | 2.37e-03 | 1.78e-02 | 67 |
GO:00510905 | Endometrium | AEH | regulation of DNA-binding transcription factor activity | 69/2100 | 440/18723 | 2.51e-03 | 1.87e-02 | 69 |
GO:00170389 | Endometrium | AEH | protein import | 37/2100 | 206/18723 | 2.56e-03 | 1.89e-02 | 37 |
GO:00900686 | Endometrium | AEH | positive regulation of cell cycle process | 41/2100 | 236/18723 | 2.94e-03 | 2.09e-02 | 41 |
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 |