GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:00165704 | Lung | IAC | histone modification | 93/2061 | 463/18723 | 5.41e-09 | 8.03e-07 | 93 |
GO:00715594 | Lung | IAC | response to transforming growth factor beta | 60/2061 | 256/18723 | 9.50e-09 | 1.25e-06 | 60 |
GO:00715604 | Lung | IAC | cellular response to transforming growth factor beta stimulus | 57/2061 | 250/18723 | 6.17e-08 | 6.54e-06 | 57 |
GO:00071794 | Lung | IAC | transforming growth factor beta receptor signaling pathway | 45/2061 | 198/18723 | 1.60e-06 | 7.93e-05 | 45 |
GO:00063256 | Lung | IAC | chromatin organization | 69/2061 | 409/18723 | 2.01e-04 | 3.53e-03 | 69 |
GO:00071785 | Lung | IAC | transmembrane receptor protein serine/threonine kinase signaling pathway | 60/2061 | 355/18723 | 4.82e-04 | 7.03e-03 | 60 |
GO:00454443 | Lung | IAC | fat cell differentiation | 42/2061 | 229/18723 | 6.19e-04 | 8.50e-03 | 42 |
GO:00349684 | Lung | IAC | histone lysine methylation | 25/2061 | 115/18723 | 6.35e-04 | 8.68e-03 | 25 |
GO:00182053 | Lung | IAC | peptidyl-lysine modification | 62/2061 | 376/18723 | 7.55e-04 | 9.82e-03 | 62 |
GO:00180223 | Lung | IAC | peptidyl-lysine methylation | 27/2061 | 131/18723 | 9.41e-04 | 1.14e-02 | 27 |
GO:19038444 | Lung | IAC | regulation of cellular response to transforming growth factor beta stimulus | 27/2061 | 131/18723 | 9.41e-04 | 1.14e-02 | 27 |
GO:00064794 | Lung | IAC | protein methylation | 34/2061 | 181/18723 | 1.28e-03 | 1.45e-02 | 34 |
GO:00082134 | Lung | IAC | protein alkylation | 34/2061 | 181/18723 | 1.28e-03 | 1.45e-02 | 34 |
GO:00165714 | Lung | IAC | histone methylation | 28/2061 | 141/18723 | 1.39e-03 | 1.53e-02 | 28 |
GO:00170153 | Lung | IAC | regulation of transforming growth factor beta receptor signaling pathway | 26/2061 | 128/18723 | 1.45e-03 | 1.55e-02 | 26 |
GO:0030512 | Lung | IAC | negative regulation of transforming growth factor beta receptor signaling pathway | 18/2061 | 81/18723 | 2.68e-03 | 2.46e-02 | 18 |
GO:0061647 | Lung | IAC | histone H3-K9 modification | 12/2061 | 48/18723 | 4.87e-03 | 3.77e-02 | 12 |
GO:00515671 | Lung | IAC | histone H3-K9 methylation | 10/2061 | 37/18723 | 5.45e-03 | 4.08e-02 | 10 |
GO:001657012 | Lung | AIS | histone modification | 81/1849 | 463/18723 | 2.30e-07 | 2.16e-05 | 81 |
GO:007155912 | Lung | AIS | response to transforming growth factor beta | 51/1849 | 256/18723 | 8.45e-07 | 6.08e-05 | 51 |
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 |
PRDM16 | SNV | Missense_Mutation | rs768419281 | c.518G>A | p.Arg173His | p.R173H | Q9HAZ2 | protein_coding | deleterious(0) | probably_damaging(0.987) | TCGA-A2-A0EX-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
PRDM16 | SNV | Missense_Mutation | rs747460948 | c.3487N>A | p.Ala1163Thr | p.A1163T | Q9HAZ2 | protein_coding | tolerated(0.7) | benign(0) | TCGA-A8-A09V-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
PRDM16 | SNV | Missense_Mutation | | c.581A>G | p.Tyr194Cys | p.Y194C | Q9HAZ2 | protein_coding | deleterious(0) | probably_damaging(0.997) | TCGA-B6-A0WZ-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | PD |
PRDM16 | SNV | Missense_Mutation | novel | c.1553T>A | p.Phe518Tyr | p.F518Y | Q9HAZ2 | protein_coding | tolerated(0.06) | probably_damaging(0.98) | TCGA-BH-A8FZ-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
PRDM16 | SNV | Missense_Mutation | rs376469401 | c.784N>A | p.Glu262Lys | p.E262K | Q9HAZ2 | protein_coding | tolerated(0.14) | benign(0.003) | TCGA-E9-A22E-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | cyclophosphane | SD |
PRDM16 | deletion | Frame_Shift_Del | novel | c.2779_2783delNNNNN | p.His927ProfsTer54 | p.H927Pfs*54 | Q9HAZ2 | protein_coding | | | TCGA-AO-A0JA-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Hormone Therapy | leuprolide | SD |
PRDM16 | deletion | Frame_Shift_Del | novel | c.1171delG | p.Val391Ter | p.V391* | Q9HAZ2 | protein_coding | | | TCGA-D8-A27V-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
PRDM16 | deletion | Frame_Shift_Del | novel | c.3168delC | p.Ser1057GlnfsTer9 | p.S1057Qfs*9 | Q9HAZ2 | protein_coding | | | TCGA-D8-A27V-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
PRDM16 | deletion | Frame_Shift_Del | novel | c.1672delC | p.Leu558TrpfsTer34 | p.L558Wfs*34 | Q9HAZ2 | protein_coding | | | TCGA-EW-A2FV-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | docetaxel | SD |
PRDM16 | SNV | Missense_Mutation | novel | c.1519T>G | p.Phe507Val | p.F507V | Q9HAZ2 | protein_coding | tolerated(0.07) | benign(0.115) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |