GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:00703713 | Breast | IDC | ERK1 and ERK2 cascade | 43/1434 | 330/18723 | 4.28e-04 | 5.84e-03 | 43 |
GO:00703733 | Breast | IDC | negative regulation of ERK1 and ERK2 cascade | 14/1434 | 78/18723 | 2.21e-03 | 2.06e-02 | 14 |
GO:00703722 | Breast | IDC | regulation of ERK1 and ERK2 cascade | 37/1434 | 309/18723 | 4.53e-03 | 3.49e-02 | 37 |
GO:007037111 | Breast | DCIS | ERK1 and ERK2 cascade | 41/1390 | 330/18723 | 8.11e-04 | 9.32e-03 | 41 |
GO:007037311 | Breast | DCIS | negative regulation of ERK1 and ERK2 cascade | 14/1390 | 78/18723 | 1.65e-03 | 1.64e-02 | 14 |
GO:009719310 | Cervix | CC | intrinsic apoptotic signaling pathway | 85/2311 | 288/18723 | 4.56e-15 | 6.46e-12 | 85 |
GO:200123310 | Cervix | CC | regulation of apoptotic signaling pathway | 96/2311 | 356/18723 | 4.08e-14 | 3.05e-11 | 96 |
GO:005254710 | Cervix | CC | regulation of peptidase activity | 112/2311 | 461/18723 | 6.70e-13 | 3.08e-10 | 112 |
GO:005254810 | Cervix | CC | regulation of endopeptidase activity | 103/2311 | 432/18723 | 1.89e-11 | 5.14e-09 | 103 |
GO:200124210 | Cervix | CC | regulation of intrinsic apoptotic signaling pathway | 52/2311 | 164/18723 | 5.06e-11 | 1.01e-08 | 52 |
GO:00160557 | Cervix | CC | Wnt signaling pathway | 98/2311 | 444/18723 | 4.82e-09 | 4.65e-07 | 98 |
GO:01987387 | Cervix | CC | cell-cell signaling by wnt | 98/2311 | 446/18723 | 6.16e-09 | 5.58e-07 | 98 |
GO:200011610 | Cervix | CC | regulation of cysteine-type endopeptidase activity | 61/2311 | 235/18723 | 8.69e-09 | 7.22e-07 | 61 |
GO:004328110 | Cervix | CC | regulation of cysteine-type endopeptidase activity involved in apoptotic process | 55/2311 | 209/18723 | 2.77e-08 | 1.95e-06 | 55 |
GO:004586110 | Cervix | CC | negative regulation of proteolysis | 80/2311 | 351/18723 | 2.88e-08 | 1.98e-06 | 80 |
GO:00301117 | Cervix | CC | regulation of Wnt signaling pathway | 76/2311 | 328/18723 | 3.05e-08 | 2.08e-06 | 76 |
GO:200123410 | Cervix | CC | negative regulation of apoptotic signaling pathway | 56/2311 | 224/18723 | 1.39e-07 | 6.70e-06 | 56 |
GO:00447725 | Cervix | CC | mitotic cell cycle phase transition | 89/2311 | 424/18723 | 2.70e-07 | 1.12e-05 | 89 |
GO:00513469 | Cervix | CC | negative regulation of hydrolase activity | 81/2311 | 379/18723 | 4.27e-07 | 1.67e-05 | 81 |
GO:00104669 | Cervix | CC | negative regulation of peptidase activity | 60/2311 | 262/18723 | 1.27e-06 | 4.34e-05 | 60 |
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 |
USP4 | SNV | Missense_Mutation | | c.290N>A | p.Pro97His | p.P97H | Q13107 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-A2-A25A-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unspecific | Cytoxan | SD |
USP4 | SNV | Missense_Mutation | novel | c.1675C>T | p.Arg559Trp | p.R559W | Q13107 | protein_coding | deleterious(0) | probably_damaging(0.978) | TCGA-AC-A2QI-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Chemotherapy | cytoxan | CR |
USP4 | SNV | Missense_Mutation | | c.944C>G | p.Ser315Cys | p.S315C | Q13107 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-AR-A0TX-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
USP4 | SNV | Missense_Mutation | novel | c.884N>G | p.Ser295Cys | p.S295C | Q13107 | protein_coding | tolerated(0.17) | possibly_damaging(0.566) | TCGA-BH-A0B6-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
USP4 | SNV | Missense_Mutation | novel | c.542N>A | p.Thr181Lys | p.T181K | Q13107 | protein_coding | deleterious(0) | possibly_damaging(0.788) | TCGA-C8-A3M8-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | tamoxiphen | CR |
USP4 | SNV | Missense_Mutation | | c.241N>G | p.Gln81Glu | p.Q81E | Q13107 | protein_coding | tolerated(0.27) | possibly_damaging(0.633) | TCGA-D8-A1JA-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | adriamycin | PD |
USP4 | SNV | Missense_Mutation | novel | c.23N>A | p.Arg8His | p.R8H | Q13107 | protein_coding | tolerated_low_confidence(0.16) | benign(0) | TCGA-E9-A54X-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
USP4 | insertion | Frame_Shift_Ins | novel | c.2080_2081insTTTGTATTTGGATGTGTCACTTCTT | p.Gln694LeufsTer34 | p.Q694Lfs*34 | Q13107 | protein_coding | | | TCGA-B6-A0RG-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
USP4 | deletion | Frame_Shift_Del | novel | c.1830delN | p.Lys611SerfsTer4 | p.K611Sfs*4 | Q13107 | protein_coding | | | TCGA-EW-A2FV-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | docetaxel | SD |
USP4 | SNV | Missense_Mutation | rs148734128 | c.2204G>A | p.Arg735Gln | p.R735Q | Q13107 | protein_coding | tolerated(0.8) | benign(0.063) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |