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Gene: DOT1L |
Gene summary for DOT1L |
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Gene information | Species | Human | Gene symbol | DOT1L | Gene ID | 84444 |
Gene name | DOT1 like histone lysine methyltransferase | |
Gene Alias | DOT1 | |
Cytomap | 19p13.3 | |
Gene Type | protein-coding | GO ID | GO:0000075 | UniProtAcc | Q8TEK3 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
84444 | DOT1L | HCC1_Meng | Human | Liver | HCC | 2.91e-08 | -5.61e-02 | 0.0246 |
84444 | DOT1L | HCC2_Meng | Human | Liver | HCC | 4.39e-05 | -3.52e-02 | 0.0107 |
84444 | DOT1L | S014 | Human | Liver | HCC | 2.01e-03 | 2.78e-01 | 0.2254 |
84444 | DOT1L | S027 | Human | Liver | HCC | 3.21e-12 | 8.06e-01 | 0.2446 |
84444 | DOT1L | S028 | Human | Liver | HCC | 1.28e-10 | 5.00e-01 | 0.2503 |
84444 | DOT1L | S029 | Human | Liver | HCC | 1.40e-06 | 4.36e-01 | 0.2581 |
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Tissue | Expression Dynamics | Abbreviation |
Liver | ![]() | HCC: Hepatocellular carcinoma |
NAFLD: Non-alcoholic fatty liver disease |
∗log2FC in expression of this searched gene in stem-like cells from each diseased tissue sample relative to stem-like cells in normal samples in each tissue plotted against the malignancy continuum. Samples are colored based on if they are from different disease stage. |
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Malignant transformation related pathway analysis |
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Tissue | Disease Stage | Enriched GO biological Processes |
Colorectum | AD | ![]() |
Colorectum | SER | ![]() |
Colorectum | MSS | ![]() |
Colorectum | MSI-H | ![]() |
Colorectum | FAP | ![]() |
∗Top 15 enriched GO BP terms are showed in the bar plot of each disease state in each tissue. Each row represents a significant GO biological process which is colored according to the -log10(p.adjust). |
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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 |
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Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa0031041 | Liver | HCC | Lysine degradation | 47/4020 | 63/8465 | 1.02e-05 | 7.58e-05 | 4.22e-05 | 47 |
hsa0031051 | Liver | HCC | Lysine degradation | 47/4020 | 63/8465 | 1.02e-05 | 7.58e-05 | 4.22e-05 | 47 |
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Cell-cell communication analysis |
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Ligand | Receptor | LRpair | Pathway | Tissue | Disease Stage |
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Single-cell gene regulatory network inference analysis |
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TF | Cell Type | Tissue | Disease Stage | Target Gene | RSS | Regulon Activity |
∗The dot plots of a searched regulon are shown for all cell subpopulations in each disease state of each tissue based on the regulon specific score inferred using pySCENIC and by calculating the average expression. |
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Somatic mutation of malignant transformation related genes |
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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.133T>G | p.Cys45Gly | p.C45G | Q8TEK3 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-A6-2674-01 | Colorectum | colon adenocarcinoma | Male | >=65 | III/IV | Ancillary | leucovorin | PD | |
DOT1L | SNV | Missense_Mutation | c.2818N>A | p.Ala940Thr | p.A940T | Q8TEK3 | protein_coding | tolerated_low_confidence(0.21) | benign(0) | TCGA-A6-4105-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | PD | |
DOT1L | SNV | Missense_Mutation | rs752264656 | c.917C>T | p.Thr306Met | p.T306M | Q8TEK3 | protein_coding | deleterious(0) | probably_damaging(0.988) | TCGA-AA-3977-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
DOT1L | SNV | Missense_Mutation | rs756193932 | c.2405C>T | p.Ser802Leu | p.S802L | Q8TEK3 | protein_coding | tolerated_low_confidence(0.19) | benign(0) | TCGA-AA-A010-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Chemotherapy | folinic | CR |
DOT1L | SNV | Missense_Mutation | c.3726N>C | p.Lys1242Asn | p.K1242N | Q8TEK3 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.996) | TCGA-AD-6964-01 | Colorectum | colon adenocarcinoma | Male | <65 | III/IV | Chemotherapy | folfox | PD | |
DOT1L | SNV | Missense_Mutation | rs571375214 | c.3064N>A | p.Glu1022Lys | p.E1022K | Q8TEK3 | protein_coding | deleterious_low_confidence(0) | benign(0.131) | TCGA-AZ-4313-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
DOT1L | SNV | Missense_Mutation | novel | c.838N>C | p.Asn280His | p.N280H | Q8TEK3 | protein_coding | deleterious(0) | probably_damaging(0.997) | TCGA-AZ-4315-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
DOT1L | SNV | Missense_Mutation | novel | c.577A>G | p.Lys193Glu | p.K193E | Q8TEK3 | protein_coding | tolerated(0.08) | benign(0.418) | TCGA-CA-6717-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Chemotherapy | oxaliplatin | CR |
DOT1L | SNV | Missense_Mutation | novel | c.3102C>A | p.Phe1034Leu | p.F1034L | Q8TEK3 | protein_coding | tolerated_low_confidence(0.16) | benign(0.006) | TCGA-CA-6717-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Chemotherapy | oxaliplatin | CR |
DOT1L | SNV | Missense_Mutation | rs371142941 | c.1768N>T | p.Arg590Cys | p.R590C | Q8TEK3 | protein_coding | tolerated(0.06) | possibly_damaging(0.564) | TCGA-CK-4951-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
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Related drugs of malignant transformation related genes |
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(DGIdb 4.0) |
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 |
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