GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:00608281 | Colorectum | SER | regulation of canonical Wnt signaling pathway | 56/2897 | 253/18723 | 3.03e-03 | 2.67e-02 | 56 |
GO:0010466 | Colorectum | SER | negative regulation of peptidase activity | 57/2897 | 262/18723 | 4.15e-03 | 3.38e-02 | 57 |
GO:20010201 | Colorectum | SER | regulation of response to DNA damage stimulus | 49/2897 | 219/18723 | 4.24e-03 | 3.45e-02 | 49 |
GO:00303071 | Colorectum | SER | positive regulation of cell growth | 39/2897 | 166/18723 | 4.25e-03 | 3.45e-02 | 39 |
GO:00459271 | Colorectum | SER | positive regulation of growth | 56/2897 | 259/18723 | 5.10e-03 | 3.91e-02 | 56 |
GO:0090263 | Colorectum | SER | positive regulation of canonical Wnt signaling pathway | 27/2897 | 106/18723 | 5.12e-03 | 3.92e-02 | 27 |
GO:00971932 | Colorectum | MSS | intrinsic apoptotic signaling pathway | 102/3467 | 288/18723 | 6.06e-12 | 9.82e-10 | 102 |
GO:00316472 | Colorectum | MSS | regulation of protein stability | 103/3467 | 298/18723 | 2.52e-11 | 3.49e-09 | 103 |
GO:20012422 | Colorectum | MSS | regulation of intrinsic apoptotic signaling pathway | 66/3467 | 164/18723 | 6.70e-11 | 7.47e-09 | 66 |
GO:20012332 | Colorectum | MSS | regulation of apoptotic signaling pathway | 116/3467 | 356/18723 | 1.02e-10 | 1.06e-08 | 116 |
GO:00525472 | Colorectum | MSS | regulation of peptidase activity | 130/3467 | 461/18723 | 1.81e-07 | 8.13e-06 | 130 |
GO:00301112 | Colorectum | MSS | regulation of Wnt signaling pathway | 98/3467 | 328/18723 | 3.37e-07 | 1.36e-05 | 98 |
GO:00160552 | Colorectum | MSS | Wnt signaling pathway | 124/3467 | 444/18723 | 6.06e-07 | 2.26e-05 | 124 |
GO:20012342 | Colorectum | MSS | negative regulation of apoptotic signaling pathway | 72/3467 | 224/18723 | 6.17e-07 | 2.29e-05 | 72 |
GO:01987382 | Colorectum | MSS | cell-cell signaling by wnt | 124/3467 | 446/18723 | 7.83e-07 | 2.77e-05 | 124 |
GO:20012432 | Colorectum | MSS | negative regulation of intrinsic apoptotic signaling pathway | 38/3467 | 98/18723 | 2.09e-06 | 6.41e-05 | 38 |
GO:20001162 | Colorectum | MSS | regulation of cysteine-type endopeptidase activity | 72/3467 | 235/18723 | 4.39e-06 | 1.24e-04 | 72 |
GO:00525482 | Colorectum | MSS | regulation of endopeptidase activity | 117/3467 | 432/18723 | 6.25e-06 | 1.65e-04 | 117 |
GO:00432812 | Colorectum | MSS | regulation of cysteine-type endopeptidase activity involved in apoptotic process | 65/3467 | 209/18723 | 7.29e-06 | 1.86e-04 | 65 |
GO:00458612 | Colorectum | MSS | negative regulation of proteolysis | 97/3467 | 351/18723 | 1.57e-05 | 3.54e-04 | 97 |
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 |