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 | | c.736N>A | p.Gly246Ser | p.G246S | Q8TEK3 | protein_coding | deleterious(0.03) | probably_damaging(1) | TCGA-BH-A0EE-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | docetaxel | SD |
DOT1L | SNV | Missense_Mutation | rs779433641 | c.1609C>G | p.Gln537Glu | p.Q537E | Q8TEK3 | protein_coding | tolerated(0.08) | benign(0.009) | TCGA-E2-A15K-06 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD |
DOT1L | SNV | Missense_Mutation | | c.186N>A | p.Asp62Glu | p.D62E | Q8TEK3 | protein_coding | deleterious(0.03) | possibly_damaging(0.875) | TCGA-EW-A1IZ-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | taxotere | SD |
DOT1L | SNV | Missense_Mutation | | c.3574G>A | p.Glu1192Lys | p.E1192K | Q8TEK3 | protein_coding | deleterious_low_confidence(0.01) | probably_damaging(0.991) | TCGA-GM-A2D9-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | SD |
DOT1L | deletion | Frame_Shift_Del | novel | c.354delN | p.Val119Ter | p.V119* | Q8TEK3 | protein_coding | | | TCGA-EW-A2FV-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | docetaxel | SD |
DOT1L | SNV | Missense_Mutation | | c.4227G>T | p.Lys1409Asn | p.K1409N | Q8TEK3 | protein_coding | deleterious_low_confidence(0) | possibly_damaging(0.553) | TCGA-C5-A2LX-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | SD |
DOT1L | SNV | Missense_Mutation | novel | c.2884N>T | p.Pro962Ser | p.P962S | Q8TEK3 | protein_coding | tolerated_low_confidence(0.15) | benign(0.007) | TCGA-DS-A1OB-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | carboplatin | PD |
DOT1L | SNV | Missense_Mutation | novel | c.3023N>G | p.Ser1008Cys | p.S1008C | Q8TEK3 | protein_coding | deleterious_low_confidence(0) | possibly_damaging(0.465) | TCGA-DS-A1OB-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | carboplatin | PD |
DOT1L | SNV | Missense_Mutation | | c.3603N>C | p.Glu1201Asp | p.E1201D | Q8TEK3 | protein_coding | deleterious_low_confidence(0) | benign(0.167) | TCGA-FU-A2QG-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
DOT1L | SNV | Missense_Mutation | novel | c.3997G>A | p.Asp1333Asn | p.D1333N | Q8TEK3 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.993) | TCGA-JW-A5VL-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
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 |