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 | novel | c.7507N>A | p.Ala2503Thr | p.A2503T | O14686 | protein_coding | tolerated(0.29) | benign(0) | TCGA-B5-A3FC-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
KMT2D | SNV | Missense_Mutation | rs749039924 | c.4802N>A | p.Arg1601His | p.R1601H | O14686 | protein_coding | deleterious(0) | probably_damaging(0.997) | TCGA-B5-A3FC-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
KMT2D | SNV | Missense_Mutation | | c.3566N>A | p.Arg1189His | p.R1189H | O14686 | protein_coding | tolerated_low_confidence(0.08) | benign(0) | TCGA-B5-A3FC-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
KMT2D | SNV | Missense_Mutation | novel | c.247N>T | p.Arg83Trp | p.R83W | O14686 | protein_coding | deleterious(0) | benign(0.425) | TCGA-B5-A3FC-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
KMT2D | SNV | Missense_Mutation | novel | c.4548N>C | p.Glu1516Asp | p.E1516D | O14686 | protein_coding | deleterious(0.04) | probably_damaging(0.991) | TCGA-B5-A3FH-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
KMT2D | SNV | Missense_Mutation | | c.784N>A | p.Ala262Thr | p.A262T | O14686 | protein_coding | deleterious(0) | benign(0.091) | TCGA-BG-A0VW-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
KMT2D | SNV | Missense_Mutation | rs201512665 | c.1396C>T | p.Arg466Cys | p.R466C | O14686 | protein_coding | deleterious_low_confidence(0.01) | benign(0.251) | TCGA-BG-A18B-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
KMT2D | SNV | Missense_Mutation | rs779247029 | c.13463N>G | p.Asn4488Ser | p.N4488S | O14686 | protein_coding | deleterious(0) | probably_damaging(0.991) | TCGA-BG-A222-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
KMT2D | SNV | Missense_Mutation | novel | c.3991N>C | p.Ser1331Pro | p.S1331P | O14686 | protein_coding | deleterious(0.01) | possibly_damaging(0.852) | TCGA-BG-A222-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
KMT2D | SNV | Missense_Mutation | novel | c.11850N>T | p.Gln3950His | p.Q3950H | O14686 | protein_coding | tolerated_low_confidence(0.47) | possibly_damaging(0.735) | TCGA-BK-A56F-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |