GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:00485457 | Liver | NAFLD | response to steroid hormone | 75/1882 | 339/18723 | 3.44e-11 | 1.12e-08 | 75 |
GO:00165703 | Liver | NAFLD | histone modification | 90/1882 | 463/18723 | 5.74e-10 | 1.28e-07 | 90 |
GO:00713836 | Liver | NAFLD | cellular response to steroid hormone stimulus | 48/1882 | 204/18723 | 1.50e-08 | 1.83e-06 | 48 |
GO:00305226 | Liver | NAFLD | intracellular receptor signaling pathway | 55/1882 | 265/18723 | 1.39e-07 | 1.03e-05 | 55 |
GO:00160495 | Liver | NAFLD | cell growth | 85/1882 | 482/18723 | 1.75e-07 | 1.25e-05 | 85 |
GO:0018205 | Liver | NAFLD | peptidyl-lysine modification | 65/1882 | 376/18723 | 9.42e-06 | 3.02e-04 | 65 |
GO:00097556 | Liver | NAFLD | hormone-mediated signaling pathway | 39/1882 | 190/18723 | 1.15e-05 | 3.58e-04 | 39 |
GO:00485884 | Liver | NAFLD | developmental cell growth | 45/1882 | 234/18723 | 1.50e-05 | 4.38e-04 | 45 |
GO:00165713 | Liver | NAFLD | histone methylation | 29/1882 | 141/18723 | 1.40e-04 | 2.63e-03 | 29 |
GO:00434016 | Liver | NAFLD | steroid hormone mediated signaling pathway | 28/1882 | 136/18723 | 1.78e-04 | 3.14e-03 | 28 |
GO:00349682 | Liver | NAFLD | histone lysine methylation | 24/1882 | 115/18723 | 4.06e-04 | 6.02e-03 | 24 |
GO:00305185 | Liver | NAFLD | intracellular steroid hormone receptor signaling pathway | 24/1882 | 116/18723 | 4.64e-04 | 6.74e-03 | 24 |
GO:00064793 | Liver | NAFLD | protein methylation | 33/1882 | 181/18723 | 5.36e-04 | 7.35e-03 | 33 |
GO:00082133 | Liver | NAFLD | protein alkylation | 33/1882 | 181/18723 | 5.36e-04 | 7.35e-03 | 33 |
GO:0018023 | Liver | NAFLD | peptidyl-lysine trimethylation | 13/1882 | 50/18723 | 1.04e-03 | 1.22e-02 | 13 |
GO:0018022 | Liver | NAFLD | peptidyl-lysine methylation | 24/1882 | 131/18723 | 2.70e-03 | 2.47e-02 | 24 |
GO:0043414 | Liver | NAFLD | macromolecule methylation | 47/1882 | 316/18723 | 4.08e-03 | 3.41e-02 | 47 |
GO:00331433 | Liver | NAFLD | regulation of intracellular steroid hormone receptor signaling pathway | 15/1882 | 74/18723 | 6.18e-03 | 4.62e-02 | 15 |
GO:00305203 | Liver | NAFLD | intracellular estrogen receptor signaling pathway | 12/1882 | 54/18723 | 6.44e-03 | 4.69e-02 | 12 |
GO:001657021 | Liver | HCC | histone modification | 283/7958 | 463/18723 | 2.68e-16 | 2.33e-14 | 283 |
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 |
KMT2D | SNV | Missense_Mutation | | c.4312G>A | p.Asp1438Asn | p.D1438N | O14686 | protein_coding | deleterious(0.01) | probably_damaging(0.996) | TCGA-C8-A26Y-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
KMT2D | SNV | Missense_Mutation | | c.15996G>T | p.Met5332Ile | p.M5332I | O14686 | protein_coding | tolerated(0.09) | possibly_damaging(0.787) | TCGA-D8-A13Z-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicine | SD |
KMT2D | SNV | Missense_Mutation | | c.10375N>T | p.Ala3459Ser | p.A3459S | O14686 | protein_coding | deleterious(0.03) | probably_damaging(0.991) | TCGA-D8-A1JG-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |
KMT2D | SNV | Missense_Mutation | | c.14613C>G | p.Ser4871Arg | p.S4871R | O14686 | protein_coding | tolerated(0.18) | benign(0.117) | TCGA-D8-A1XQ-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
KMT2D | SNV | Missense_Mutation | | c.5542N>A | p.Asp1848Asn | p.D1848N | O14686 | protein_coding | deleterious(0.02) | possibly_damaging(0.815) | TCGA-GM-A2D9-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | SD |
KMT2D | SNV | Missense_Mutation | novel | c.13076C>T | p.Ser4359Leu | p.S4359L | O14686 | protein_coding | tolerated_low_confidence(0.12) | benign(0.095) | TCGA-PE-A5DE-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | taxotere | CR |
KMT2D | insertion | Frame_Shift_Ins | novel | c.9973_9974insGGAATCATGCC | p.Leu3325TrpfsTer9 | p.L3325Wfs*9 | O14686 | protein_coding | | | TCGA-A2-A0EV-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
KMT2D | insertion | In_Frame_Ins | novel | c.9971_9972insGTCTGCCTGGGG | p.Gly3324_Leu3325insSerAlaTrpGly | p.G3324_L3325insSAWG | O14686 | protein_coding | | | TCGA-A2-A0EV-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
KMT2D | insertion | In_Frame_Ins | novel | c.15158_15159insTACTACACACCTAGGCTCTGCGGTATACCC | p.Asp5053_Leu5054insThrThrHisLeuGlySerAlaValTyrPro | p.D5053_L5054insTTHLGSAVYP | O14686 | protein_coding | | | TCGA-A2-A0EX-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
KMT2D | insertion | Frame_Shift_Ins | novel | c.14329_14330insTCTGGGGGAGA | p.Gly4777ValfsTer24 | p.G4777Vfs*24 | O14686 | protein_coding | | | TCGA-A2-A0EX-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |