GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:00902634 | Liver | NAFLD | positive regulation of canonical Wnt signaling pathway | 21/1882 | 106/18723 | 1.81e-03 | 1.86e-02 | 21 |
GO:20010206 | Liver | NAFLD | regulation of response to DNA damage stimulus | 36/1882 | 219/18723 | 2.14e-03 | 2.08e-02 | 36 |
GO:00971937 | Liver | NAFLD | intrinsic apoptotic signaling pathway | 44/1882 | 288/18723 | 3.24e-03 | 2.88e-02 | 44 |
GO:00459275 | Liver | NAFLD | positive regulation of growth | 40/1882 | 259/18723 | 4.00e-03 | 3.35e-02 | 40 |
GO:1901987 | Liver | NAFLD | regulation of cell cycle phase transition | 56/1882 | 390/18723 | 4.01e-03 | 3.36e-02 | 56 |
GO:00303075 | Liver | NAFLD | positive regulation of cell growth | 28/1882 | 166/18723 | 4.35e-03 | 3.57e-02 | 28 |
GO:19033217 | Liver | NAFLD | negative regulation of protein modification by small protein conjugation or removal | 18/1882 | 95/18723 | 6.05e-03 | 4.54e-02 | 18 |
GO:003164712 | Liver | Cirrhotic | regulation of protein stability | 144/4634 | 298/18723 | 6.74e-19 | 1.28e-16 | 144 |
GO:200123312 | Liver | Cirrhotic | regulation of apoptotic signaling pathway | 163/4634 | 356/18723 | 2.62e-18 | 4.43e-16 | 163 |
GO:009719312 | Liver | Cirrhotic | intrinsic apoptotic signaling pathway | 130/4634 | 288/18723 | 2.69e-14 | 2.45e-12 | 130 |
GO:005254712 | Liver | Cirrhotic | regulation of peptidase activity | 185/4634 | 461/18723 | 1.32e-13 | 1.09e-11 | 185 |
GO:005254812 | Liver | Cirrhotic | regulation of endopeptidase activity | 172/4634 | 432/18723 | 2.12e-12 | 1.58e-10 | 172 |
GO:20012427 | Liver | Cirrhotic | regulation of intrinsic apoptotic signaling pathway | 82/4634 | 164/18723 | 2.35e-12 | 1.71e-10 | 82 |
GO:20012347 | Liver | Cirrhotic | negative regulation of apoptotic signaling pathway | 102/4634 | 224/18723 | 8.40e-12 | 5.60e-10 | 102 |
GO:00432817 | Liver | Cirrhotic | regulation of cysteine-type endopeptidase activity involved in apoptotic process | 91/4634 | 209/18723 | 1.91e-09 | 7.98e-08 | 91 |
GO:004586112 | Liver | Cirrhotic | negative regulation of proteolysis | 136/4634 | 351/18723 | 3.46e-09 | 1.42e-07 | 136 |
GO:20001167 | Liver | Cirrhotic | regulation of cysteine-type endopeptidase activity | 97/4634 | 235/18723 | 1.61e-08 | 5.99e-07 | 97 |
GO:000941012 | Liver | Cirrhotic | response to xenobiotic stimulus | 165/4634 | 462/18723 | 6.82e-08 | 2.09e-06 | 165 |
GO:005134612 | Liver | Cirrhotic | negative regulation of hydrolase activity | 139/4634 | 379/18723 | 1.24e-07 | 3.42e-06 | 139 |
GO:00431546 | Liver | Cirrhotic | negative regulation of cysteine-type endopeptidase activity involved in apoptotic process | 40/4634 | 78/18723 | 4.00e-07 | 9.39e-06 | 40 |
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 |