GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:001657021 | Liver | HCC | histone modification | 283/7958 | 463/18723 | 2.68e-16 | 2.33e-14 | 283 |
GO:005109822 | Liver | HCC | regulation of binding | 225/7958 | 363/18723 | 3.78e-14 | 2.37e-12 | 225 |
GO:00182052 | Liver | HCC | peptidyl-lysine modification | 230/7958 | 376/18723 | 1.51e-13 | 8.32e-12 | 230 |
GO:00434141 | Liver | HCC | macromolecule methylation | 183/7958 | 316/18723 | 2.00e-08 | 4.72e-07 | 183 |
GO:0032259 | Liver | HCC | methylation | 206/7958 | 364/18723 | 3.35e-08 | 7.53e-07 | 206 |
GO:00064792 | Liver | HCC | protein methylation | 111/7958 | 181/18723 | 2.36e-07 | 4.18e-06 | 111 |
GO:00082132 | Liver | HCC | protein alkylation | 111/7958 | 181/18723 | 2.36e-07 | 4.18e-06 | 111 |
GO:00165712 | Liver | HCC | histone methylation | 88/7958 | 141/18723 | 1.41e-06 | 2.02e-05 | 88 |
GO:19019871 | Liver | HCC | regulation of cell cycle phase transition | 211/7958 | 390/18723 | 2.11e-06 | 2.89e-05 | 211 |
GO:00427702 | Liver | HCC | signal transduction in response to DNA damage | 103/7958 | 172/18723 | 3.05e-06 | 4.04e-05 | 103 |
GO:00000751 | Liver | HCC | cell cycle checkpoint | 100/7958 | 169/18723 | 8.75e-06 | 1.02e-04 | 100 |
GO:0045786 | Liver | HCC | negative regulation of cell cycle | 204/7958 | 385/18723 | 1.84e-05 | 1.99e-04 | 204 |
GO:00349681 | Liver | HCC | histone lysine methylation | 70/7958 | 115/18723 | 5.32e-05 | 5.04e-04 | 70 |
GO:00000771 | Liver | HCC | DNA damage checkpoint | 68/7958 | 115/18723 | 2.33e-04 | 1.77e-03 | 68 |
GO:0031570 | Liver | HCC | DNA integrity checkpoint | 71/7958 | 123/18723 | 4.64e-04 | 3.08e-03 | 71 |
GO:1901988 | Liver | HCC | negative regulation of cell cycle phase transition | 132/7958 | 249/18723 | 4.97e-04 | 3.25e-03 | 132 |
GO:00180221 | Liver | HCC | peptidyl-lysine methylation | 74/7958 | 131/18723 | 8.46e-04 | 5.06e-03 | 74 |
GO:0010948 | Liver | HCC | negative regulation of cell cycle process | 152/7958 | 294/18723 | 8.50e-04 | 5.08e-03 | 152 |
GO:00322001 | Liver | HCC | telomere organization | 86/7958 | 159/18723 | 2.06e-03 | 1.04e-02 | 86 |
GO:005110112 | Liver | HCC | regulation of DNA binding | 64/7958 | 118/18723 | 6.60e-03 | 2.68e-02 | 64 |
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 |
DOT1L | SNV | Missense_Mutation | novel | c.3880N>G | p.Lys1294Glu | p.K1294E | Q8TEK3 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.987) | TCGA-DF-A2KU-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | Unknown | I/II | Unknown | Unknown | SD |
DOT1L | SNV | Missense_Mutation | | c.3422C>T | p.Thr1141Ile | p.T1141I | Q8TEK3 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.996) | TCGA-EC-A24G-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |
DOT1L | SNV | Missense_Mutation | novel | c.3767N>T | p.Ser1256Leu | p.S1256L | Q8TEK3 | protein_coding | deleterious_low_confidence(0.01) | benign(0.039) | TCGA-EO-A22R-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
DOT1L | SNV | Missense_Mutation | rs369996787 | c.1142N>T | p.Ala381Val | p.A381V | Q8TEK3 | protein_coding | tolerated(0.18) | benign(0.229) | TCGA-EY-A1GQ-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Chemotherapy | taxol | SD |
DOT1L | SNV | Missense_Mutation | rs762394774 | c.1406G>A | p.Arg469Gln | p.R469Q | Q8TEK3 | protein_coding | tolerated(0.07) | benign(0.031) | TCGA-EY-A215-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
DOT1L | SNV | Missense_Mutation | rs745691240 | c.1184N>A | p.Arg395His | p.R395H | Q8TEK3 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-FI-A2D5-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatinum | PD |
DOT1L | insertion | In_Frame_Ins | novel | c.180_181insCCAGAGCCACTGGTGTGTGGCCTCGAAGCC | p.Leu60_Ile61insProGluProLeuValCysGlyLeuGluAla | p.L60_I61insPEPLVCGLEA | Q8TEK3 | protein_coding | | | TCGA-A5-A0GE-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
DOT1L | deletion | In_Frame_Del | novel | c.1810_1812delTGC | p.Cys604del | p.C604del | Q8TEK3 | protein_coding | | | TCGA-FI-A3PX-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
DOT1L | SNV | Missense_Mutation | rs757113225 | c.584N>T | p.Ala195Val | p.A195V | Q8TEK3 | protein_coding | deleterious(0) | probably_damaging(0.99) | TCGA-4R-AA8I-01 | Liver | liver hepatocellular carcinoma | Male | >=65 | I/II | Unknown | Unknown | PD |
DOT1L | SNV | Missense_Mutation | | c.1828N>T | p.Asp610Tyr | p.D610Y | Q8TEK3 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.999) | TCGA-CC-5259-01 | Liver | liver hepatocellular carcinoma | Female | <65 | III/IV | Unknown | Unknown | PD |
Entrez ID | Symbol | Category | Interaction Types | Drug Claim Name | Drug Name | PMIDs |
84444 | DOT1L | CLINICALLY ACTIONABLE, DNA REPAIR, METHYL TRANSFERASE, DRUGGABLE GENOME, ENZYME | inhibitor | 178103597 | | |
84444 | DOT1L | CLINICALLY ACTIONABLE, DNA REPAIR, METHYL TRANSFERASE, DRUGGABLE GENOME, ENZYME | | candesartan | CANDESARTAN | 31327267 |
84444 | DOT1L | CLINICALLY ACTIONABLE, DNA REPAIR, METHYL TRANSFERASE, DRUGGABLE GENOME, ENZYME | inhibitor | 178103949 | | |
84444 | DOT1L | CLINICALLY ACTIONABLE, DNA REPAIR, METHYL TRANSFERASE, DRUGGABLE GENOME, ENZYME | inhibitor | 178103598 | PINOMETOSTAT | |
84444 | DOT1L | CLINICALLY ACTIONABLE, DNA REPAIR, METHYL TRANSFERASE, DRUGGABLE GENOME, ENZYME | inhibitor | 315661281 | | |
84444 | DOT1L | CLINICALLY ACTIONABLE, DNA REPAIR, METHYL TRANSFERASE, DRUGGABLE GENOME, ENZYME | inhibitor | 178103599 | | |
84444 | DOT1L | CLINICALLY ACTIONABLE, DNA REPAIR, METHYL TRANSFERASE, DRUGGABLE GENOME, ENZYME | | hydrochlorothiazide | HYDROCHLOROTHIAZIDE | 22440088 |