GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:19019907 | Skin | AK | regulation of mitotic cell cycle phase transition | 57/1910 | 299/18723 | 2.47e-06 | 6.76e-05 | 57 |
GO:000931420 | Skin | AK | response to radiation | 78/1910 | 456/18723 | 3.32e-06 | 8.59e-05 | 78 |
GO:19019877 | Skin | AK | regulation of cell cycle phase transition | 69/1910 | 390/18723 | 3.69e-06 | 9.11e-05 | 69 |
GO:001046625 | Skin | AK | negative regulation of peptidase activity | 51/1910 | 262/18723 | 4.43e-06 | 1.07e-04 | 51 |
GO:005134626 | Skin | AK | negative regulation of hydrolase activity | 67/1910 | 379/18723 | 5.22e-06 | 1.21e-04 | 67 |
GO:19022299 | Skin | AK | regulation of intrinsic apoptotic signaling pathway in response to DNA damage | 14/1910 | 36/18723 | 5.46e-06 | 1.26e-04 | 14 |
GO:001095120 | Skin | AK | negative regulation of endopeptidase activity | 49/1910 | 252/18723 | 6.98e-06 | 1.55e-04 | 49 |
GO:200011724 | Skin | AK | negative regulation of cysteine-type endopeptidase activity | 23/1910 | 86/18723 | 1.13e-05 | 2.36e-04 | 23 |
GO:004315420 | Skin | AK | negative regulation of cysteine-type endopeptidase activity involved in apoptotic process | 21/1910 | 78/18723 | 2.41e-05 | 4.39e-04 | 21 |
GO:003030716 | Skin | AK | positive regulation of cell growth | 34/1910 | 166/18723 | 5.76e-05 | 8.63e-04 | 34 |
GO:19022305 | Skin | AK | negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage | 11/1910 | 29/18723 | 7.32e-05 | 1.05e-03 | 11 |
GO:00457866 | Skin | AK | negative regulation of cell cycle | 63/1910 | 385/18723 | 1.08e-04 | 1.40e-03 | 63 |
GO:004592718 | Skin | AK | positive regulation of growth | 46/1910 | 259/18723 | 1.33e-04 | 1.64e-03 | 46 |
GO:200102020 | Skin | AK | regulation of response to DNA damage stimulus | 40/1910 | 219/18723 | 1.93e-04 | 2.19e-03 | 40 |
GO:00459306 | Skin | AK | negative regulation of mitotic cell cycle | 42/1910 | 235/18723 | 2.21e-04 | 2.46e-03 | 42 |
GO:19019916 | Skin | AK | negative regulation of mitotic cell cycle phase transition | 33/1910 | 179/18723 | 5.67e-04 | 5.06e-03 | 33 |
GO:00346446 | Skin | AK | cellular response to UV | 20/1910 | 90/18723 | 6.22e-04 | 5.45e-03 | 20 |
GO:19019884 | Skin | AK | negative regulation of cell cycle phase transition | 42/1910 | 249/18723 | 7.65e-04 | 6.39e-03 | 42 |
GO:00094116 | Skin | AK | response to UV | 28/1910 | 149/18723 | 1.05e-03 | 8.24e-03 | 28 |
GO:20010215 | Skin | AK | negative regulation of response to DNA damage stimulus | 18/1910 | 81/18723 | 1.14e-03 | 8.81e-03 | 18 |
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 |