GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:190199114 | Skin | cSCC | negative regulation of mitotic cell cycle phase transition | 75/4864 | 179/18723 | 2.38e-06 | 3.84e-05 | 75 |
GO:004593014 | Skin | cSCC | negative regulation of mitotic cell cycle | 93/4864 | 235/18723 | 3.14e-06 | 4.89e-05 | 93 |
GO:004578613 | Skin | cSCC | negative regulation of cell cycle | 140/4864 | 385/18723 | 3.64e-06 | 5.50e-05 | 140 |
GO:001605524 | Skin | cSCC | Wnt signaling pathway | 158/4864 | 444/18723 | 3.80e-06 | 5.70e-05 | 158 |
GO:019873824 | Skin | cSCC | cell-cell signaling by wnt | 158/4864 | 446/18723 | 5.08e-06 | 7.38e-05 | 158 |
GO:2001020111 | Skin | cSCC | regulation of response to DNA damage stimulus | 87/4864 | 219/18723 | 5.38e-06 | 7.75e-05 | 87 |
GO:004586128 | Skin | cSCC | negative regulation of proteolysis | 128/4864 | 351/18723 | 7.95e-06 | 1.09e-04 | 128 |
GO:0008630111 | Skin | cSCC | intrinsic apoptotic signaling pathway in response to DNA damage | 46/4864 | 99/18723 | 8.60e-06 | 1.14e-04 | 46 |
GO:2000117111 | Skin | cSCC | negative regulation of cysteine-type endopeptidase activity | 41/4864 | 86/18723 | 1.20e-05 | 1.53e-04 | 41 |
GO:0043154111 | Skin | cSCC | negative regulation of cysteine-type endopeptidase activity involved in apoptotic process | 38/4864 | 78/18723 | 1.33e-05 | 1.67e-04 | 38 |
GO:000008611 | Skin | cSCC | G2/M transition of mitotic cell cycle | 58/4864 | 137/18723 | 2.19e-05 | 2.54e-04 | 58 |
GO:190198812 | Skin | cSCC | negative regulation of cell cycle phase transition | 94/4864 | 249/18723 | 2.65e-05 | 3.00e-04 | 94 |
GO:001094812 | Skin | cSCC | negative regulation of cell cycle process | 108/4864 | 294/18723 | 2.75e-05 | 3.09e-04 | 108 |
GO:004483911 | Skin | cSCC | cell cycle G2/M phase transition | 61/4864 | 148/18723 | 3.61e-05 | 3.90e-04 | 61 |
GO:003011124 | Skin | cSCC | regulation of Wnt signaling pathway | 117/4864 | 328/18723 | 5.80e-05 | 5.75e-04 | 117 |
GO:009026324 | Skin | cSCC | positive regulation of canonical Wnt signaling pathway | 45/4864 | 106/18723 | 1.61e-04 | 1.42e-03 | 45 |
GO:005134627 | Skin | cSCC | negative regulation of hydrolase activity | 130/4864 | 379/18723 | 1.74e-04 | 1.49e-03 | 130 |
GO:000155824 | Skin | cSCC | regulation of cell growth | 140/4864 | 414/18723 | 2.07e-04 | 1.72e-03 | 140 |
GO:007148211 | Skin | cSCC | cellular response to light stimulus | 50/4864 | 123/18723 | 2.60e-04 | 2.11e-03 | 50 |
GO:003017724 | Skin | cSCC | positive regulation of Wnt signaling pathway | 55/4864 | 140/18723 | 3.72e-04 | 2.92e-03 | 55 |
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 |