GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:000838022 | Liver | HCC | RNA splicing | 313/7958 | 434/18723 | 1.36e-36 | 1.73e-33 | 313 |
GO:000037522 | Liver | HCC | RNA splicing, via transesterification reactions | 228/7958 | 324/18723 | 1.47e-24 | 4.06e-22 | 228 |
GO:000037722 | Liver | HCC | RNA splicing, via transesterification reactions with bulged adenosine as nucleophile | 224/7958 | 320/18723 | 1.16e-23 | 2.62e-21 | 224 |
GO:000039822 | Liver | HCC | mRNA splicing, via spliceosome | 224/7958 | 320/18723 | 1.16e-23 | 2.62e-21 | 224 |
GO:001657021 | Liver | HCC | histone modification | 283/7958 | 463/18723 | 2.68e-16 | 2.33e-14 | 283 |
GO:00706461 | Liver | HCC | protein modification by small protein removal | 91/7958 | 157/18723 | 6.50e-05 | 5.92e-04 | 91 |
GO:00165791 | Liver | HCC | protein deubiquitination | 78/7958 | 139/18723 | 8.13e-04 | 4.87e-03 | 78 |
GO:0016578 | Liver | HCC | histone deubiquitination | 17/7958 | 23/18723 | 2.28e-03 | 1.13e-02 | 17 |
GO:00165704 | Lung | IAC | histone modification | 93/2061 | 463/18723 | 5.41e-09 | 8.03e-07 | 93 |
GO:00083808 | Lung | IAC | RNA splicing | 75/2061 | 434/18723 | 4.89e-05 | 1.12e-03 | 75 |
GO:00003778 | Lung | IAC | RNA splicing, via transesterification reactions with bulged adenosine as nucleophile | 52/2061 | 320/18723 | 2.64e-03 | 2.44e-02 | 52 |
GO:00003988 | Lung | IAC | mRNA splicing, via spliceosome | 52/2061 | 320/18723 | 2.64e-03 | 2.44e-02 | 52 |
GO:00003758 | Lung | IAC | RNA splicing, via transesterification reactions | 52/2061 | 324/18723 | 3.43e-03 | 2.93e-02 | 52 |
GO:001657012 | Lung | AIS | histone modification | 81/1849 | 463/18723 | 2.30e-07 | 2.16e-05 | 81 |
GO:000838013 | Lung | AIS | RNA splicing | 68/1849 | 434/18723 | 8.50e-05 | 2.11e-03 | 68 |
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:000037513 | Lung | AIS | RNA splicing, via transesterification reactions | 49/1849 | 324/18723 | 1.69e-03 | 1.93e-02 | 49 |
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 |
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 |
USP49 | SNV | Missense_Mutation | rs776833185 | c.1138N>A | p.Ala380Thr | p.A380T | Q70CQ1 | protein_coding | deleterious(0.01) | possibly_damaging(0.782) | TCGA-AX-A06F-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatin | SD |
USP49 | SNV | Missense_Mutation | novel | c.1232T>C | p.Val411Ala | p.V411A | Q70CQ1 | protein_coding | deleterious(0) | possibly_damaging(0.88) | TCGA-B5-A3FA-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
USP49 | SNV | Missense_Mutation | novel | c.206T>C | p.Val69Ala | p.V69A | Q70CQ1 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-B5-A3FA-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
USP49 | SNV | Missense_Mutation | novel | c.1640A>G | p.Gln547Arg | p.Q547R | Q70CQ1 | protein_coding | deleterious(0.04) | benign(0.316) | TCGA-BG-A222-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
USP49 | SNV | Missense_Mutation | rs774788681 | c.914N>A | p.Gly305Asp | p.G305D | Q70CQ1 | protein_coding | tolerated(0.16) | benign(0.005) | TCGA-D1-A17F-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
USP49 | SNV | Missense_Mutation | novel | c.932N>T | p.Ser311Leu | p.S311L | Q70CQ1 | protein_coding | tolerated(0.09) | benign(0.005) | TCGA-EO-A22U-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
USP49 | SNV | Missense_Mutation | novel | c.1959T>G | p.Phe653Leu | p.F653L | Q70CQ1 | protein_coding | deleterious(0) | probably_damaging(0.924) | TCGA-EY-A1GI-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
USP49 | SNV | Missense_Mutation | | c.1267C>T | p.Arg423Trp | p.R423W | Q70CQ1 | protein_coding | deleterious(0.03) | probably_damaging(0.981) | TCGA-FI-A2D0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
USP49 | SNV | Missense_Mutation | novel | c.1091T>C | p.Leu364Pro | p.L364P | Q70CQ1 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-FI-A2D5-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatinum | PD |
USP49 | SNV | Missense_Mutation | rs753721736 | c.890C>T | p.Thr297Ile | p.T297I | Q70CQ1 | protein_coding | deleterious(0.03) | benign(0.01) | TCGA-FI-A2D5-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatinum | PD |