GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:007121412 | Lung | AIS | cellular response to abiotic stimulus | 51/1849 | 331/18723 | 9.10e-04 | 1.21e-02 | 51 |
GO:010400412 | Lung | AIS | cellular response to environmental stimulus | 51/1849 | 331/18723 | 9.10e-04 | 1.21e-02 | 51 |
GO:005254813 | Lung | AIS | regulation of endopeptidase activity | 63/1849 | 432/18723 | 1.06e-03 | 1.38e-02 | 63 |
GO:000037713 | Lung | AIS | RNA splicing, via transesterification reactions with bulged adenosine as nucleophile | 49/1849 | 320/18723 | 1.30e-03 | 1.63e-02 | 49 |
GO:000039813 | Lung | AIS | mRNA splicing, via spliceosome | 49/1849 | 320/18723 | 1.30e-03 | 1.63e-02 | 49 |
GO:004328113 | Lung | AIS | regulation of cysteine-type endopeptidase activity involved in apoptotic process | 35/1849 | 209/18723 | 1.31e-03 | 1.63e-02 | 35 |
GO:000863012 | Lung | AIS | intrinsic apoptotic signaling pathway in response to DNA damage | 20/1849 | 99/18723 | 1.46e-03 | 1.77e-02 | 20 |
GO:200011613 | Lung | AIS | regulation of cysteine-type endopeptidase activity | 38/1849 | 235/18723 | 1.62e-03 | 1.87e-02 | 38 |
GO:000037513 | Lung | AIS | RNA splicing, via transesterification reactions | 49/1849 | 324/18723 | 1.69e-03 | 1.93e-02 | 49 |
GO:003030712 | Lung | AIS | positive regulation of cell growth | 29/1849 | 166/18723 | 1.70e-03 | 1.93e-02 | 29 |
GO:190222911 | Lung | AIS | regulation of intrinsic apoptotic signaling pathway in response to DNA damage | 10/1849 | 36/18723 | 1.98e-03 | 2.18e-02 | 10 |
GO:00094162 | Lung | AIS | response to light stimulus | 47/1849 | 320/18723 | 3.72e-03 | 3.48e-02 | 47 |
GO:20010211 | Lung | AIS | negative regulation of response to DNA damage stimulus | 16/1849 | 81/18723 | 5.23e-03 | 4.49e-02 | 16 |
GO:000838023 | Lung | MIAC | RNA splicing | 44/967 | 434/18723 | 1.56e-05 | 1.07e-03 | 44 |
GO:001657022 | Lung | MIAC | histone modification | 45/967 | 463/18723 | 3.58e-05 | 1.97e-03 | 45 |
GO:000037723 | Lung | MIAC | RNA splicing, via transesterification reactions with bulged adenosine as nucleophile | 33/967 | 320/18723 | 1.27e-04 | 5.13e-03 | 33 |
GO:000039823 | Lung | MIAC | mRNA splicing, via spliceosome | 33/967 | 320/18723 | 1.27e-04 | 5.13e-03 | 33 |
GO:000037523 | Lung | MIAC | RNA splicing, via transesterification reactions | 33/967 | 324/18723 | 1.61e-04 | 6.19e-03 | 33 |
GO:200123320 | Oral cavity | OSCC | regulation of apoptotic signaling pathway | 242/7305 | 356/18723 | 6.66e-29 | 3.24e-26 | 242 |
GO:009719320 | Oral cavity | OSCC | intrinsic apoptotic signaling pathway | 202/7305 | 288/18723 | 4.64e-27 | 1.73e-24 | 202 |
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 |