TissGeneSummary for DOT1L |
Gene summary |
Basic gene information | Gene symbol | DOT1L |
Gene name | DOT1-like histone H3K79 methyltransferase | |
Synonyms | DOT1|KMT4 | |
Cytomap | UCSC genome browser: 19p13.3 | |
Type of gene | protein-coding | |
RefGenes | NM_032482.2, | |
Description | DOT1-like proteinDOT1-like, histone H3 methyltransferaseH3-K79-HMTasehistone H3-K79 methyltransferasehistone methyltransferase DOT1Lhistone-lysine N-methyltransferase, H3 lysine-79 specificlysine N-methyltransferase 4 | |
Modification date | 20141212 | |
dbXrefs | MIM : 607375 | |
HGNC : HGNC | ||
Ensembl : ENSG00000104885 | ||
HPRD : 10455 | ||
Vega : OTTHUMG00000150431 | ||
Protein | UniProt: go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_DOT1L | |
BioGPS: 84444 | ||
Pathway | NCI Pathway Interaction Database: DOT1L | |
KEGG: DOT1L | ||
REACTOME: DOT1L | ||
Pathway Commons: DOT1L | ||
Context | iHOP: DOT1L | |
ligand binding site mutation search in PubMed: DOT1L | ||
UCL Cancer Institute: DOT1L | ||
Assigned class in TissGDB* | C | |
Included tissue-specific gene expression resources | HPA,GTEx | |
Specific-tissues in normal samples (assigned by TissGDB using HPA, TiGER, and GTEx) | Testis | |
Cancer types related to the specific-tissues in cancer samples (assigned by TissGDB using TCGA) | TGCT | |
Reference showing the relevant tissue of DOT1L | ||
Description by TissGene annotations | Cancer gene TissgsLTS Fused withTSGene |
* Class A consists of genes with literature evidence and is part of the cTissGenes. Class B consists of only cTissGenes without additional evidence. The remaining genes belong to Class C. |
Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
GO ID | GO term | PubMed ID | GO:0034968 | histone lysine methylation | 17707234 | GO:0046425 | regulation of JAK-STAT cascade | 22002246 | GO:0034968 | histone lysine methylation | 17707234 | GO:0046425 | regulation of JAK-STAT cascade | 22002246 |
Top |
TissGeneExp for DOT1L |
Gene expressions across 28 cancer types (X-axis: cancer type and Y-axis: log2(norm_counts+1)) (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) |
Gene isoform expressions across 28 cancer types (X-axis: cancer type and Y-axis: log2(norm_counts+1)) (TCGA pan-cancer tcga_rsem_isoform_tpm, version 2016-09-01) |
Gene expressions across normal tissues of GTEx data (GTEx GTEx_Analysis_v6_RNA-seq_RNA-SeQCv1.1.8_gene_rpkm.gct) - Here, we shows the matched tissue types only among our 28 cancer types. |
Different expressions across 14 cancer types with more than 10 samples between matched tumors and normals (X-axis: cancer type and Y-axis: log2(norm_counts+1)) (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) |
- Significantly differentially expressed cancer types and information. (|Fold change|>1 and FDR<0.05) |
Cancer type | Mean(exp) in tumor | Mean(exp) in matched normal | Log2FC | P-val. | FDR |
Top |
TissGene-miRNA for DOT1L |
Significantly anti-correlated miRNAs of TissGene across 28 cancer types (Gene-miRNA relations from TargetScanHuman Relsease 7.1, Conserved_Site_Context_Scores.txt.zip, 06.01.2016) (TCGA IlluminaHiSeq_miRNASeq, log2(RPM+1) data, version 2016-11-21) (TCGA IlluminaHiSeq_RNASeqV2, log2(normalized_count+1) data, version 2016-08-16) (Spearman’s Rank Correlation (p-value<0.05 and coefficient<-0.25)) |
Cancer type | miRNA id | miRNA accession | P-val. | Coeff. | # samples |
Top |
TissGeneMut for DOT1L |
TissGeneSNV for DOT1L |
nsSNV counts per each loci. Different colors of circles represent different cancer types. Circle size denotes number of samples. (TCGA somatic mutation (SNPs and small INDELs) data, version 2016-04-25) * Click on the image to enlarge it in a new window. |
Somatic nucleotide variants of TissGene across 28 cancer types (X-axis: cancer type and Y-axis: % of mutated samples) The numbers in parentheses are numbers of samples with mutation (nsSNVs). (TCGA somatic mutation (SNPs and small INDELs) data, version 2016-04-25) |
- nsSNVs sorted by frequency. |
AAchange | Cancer type | # samples |
p.G1386S | COAD | 8 |
p.G1386S | READ | 6 |
p.S1208F | SKCM | 2 |
p.Q537E | BRCA | 2 |
p.V1418L | COAD | 2 |
p.R411H | UCEC | 2 |
p.S1008C | CESC | 1 |
p.G1471A | LUAD | 1 |
p.A591V | STAD | 1 |
p.P832L | SKCM | 1 |
p.A519V | KIRP | 1 |
p.E377* | BLCA | 1 |
p.S775F | SKCM | 1 |
p.F243C | SKCM | 1 |
p.N280H | COAD | 1 |
p.R759C | STAD | 1 |
p.Q430* | HNSC | 1 |
p.Q443* | CESC | 1 |
p.S1492F | SKCM | 1 |
p.S1035* | LUAD | 1 |
p.D610Y | LIHC | 1 |
p.P481L | SKCM | 1 |
p.V59I | LUSC | 1 |
p.P389Q | STAD | 1 |
p.K618N | SKCM | 1 |
p.A740T | STAD | 1 |
p.E843D | BLCA | 1 |
p.G1320A | SKCM | 1 |
p.F1034L | COAD | 1 |
p.G137W | ESCA | 1 |
p.E348* | LUAD | 1 |
p.M823I | LIHC | 1 |
p.P742H | SKCM | 1 |
p.S911L | LUAD | 1 |
p.S458G | STAD | 1 |
p.M417R | SKCM | 1 |
p.A195V | LIHC | 1 |
p.G1305R | SKCM | 1 |
p.M1479V | BLCA | 1 |
p.P962S | CESC | 1 |
p.M55V | BLCA | 1 |
p.P1399R | LIHC | 1 |
p.R469Q | UCEC | 1 |
p.A538T | ESCA | 1 |
p.D451Y | THYM | 1 |
p.A768T | LGG | 1 |
p.D157N | BLCA | 1 |
p.Q1158R | HNSC | 1 |
p.G919C | ACC | 1 |
p.K1409N | CESC | 1 |
p.E682* | LUAD | 1 |
p.Q439* | CESC | 1 |
p.A195V | KIRP | 1 |
p.K676E | LIHC | 1 |
p.G91C | STAD | 1 |
p.S118L | STAD | 1 |
p.M198I | CHOL | 1 |
p.D1333N | CESC | 1 |
p.P776L | SKCM | 1 |
p.G1018D | STAD | 1 |
p.R256W | BLCA | 1 |
p.S1213F | SKCM | 1 |
p.R409C | PRAD | 1 |
p.T613M | HNSC | 1 |
p.A935S | UCEC | 1 |
p.S1457F | SKCM | 1 |
p.S181C | LUSC | 1 |
p.P1182L | KIRP | 1 |
p.M417I | BLCA | 1 |
p.S455F | SKCM | 1 |
p.R1170W | THYM | 1 |
p.E46G | BRCA | 1 |
p.M707V | HNSC | 1 |
p.A353G | LGG | 1 |
p.I1143L | SKCM | 1 |
p.P664A | LUAD | 1 |
p.N242S | LIHC | 1 |
p.P813L | LIHC | 1 |
p.D62E | BRCA | 1 |
p.A435V | SKCM | 1 |
p.A940T | COAD | 1 |
p.K90N | LUAD | 1 |
p.D1250G | SKCM | 1 |
p.G1054D | THCA | 1 |
p.P481S | SKCM | 1 |
p.T1141I | COAD | 1 |
p.Q512H | UCEC | 1 |
p.G412R | STAD | 1 |
p.P247S | BLCA | 1 |
p.Q443X | KIRP | 1 |
p.R1011W | STAD | 1 |
p.Q31H | LUSC | 1 |
p.D50N | BLCA | 1 |
p.A1056V | STAD | 1 |
p.R282K | BLCA | 1 |
p.P1105L | BLCA | 1 |
p.R593C | COAD | 1 |
p.P122R | KIRP | 1 |
p.R1414W | ESCA | 1 |
p.A798T | GBM | 1 |
p.A1364T | LGG | 1 |
p.G246S | BRCA | 1 |
p.R73M | THYM | 1 |
p.Q737K | PRAD | 1 |
p.D1250N | LGG | 1 |
p.E655* | BLCA | 1 |
p.A1522T | LUAD | 1 |
p.F257L | STAD | 1 |
p.I883T | STAD | 1 |
p.P474S | SKCM | 1 |
p.Y115N | BLCA | 1 |
p.E379K | BLCA | 1 |
p.L111M | STAD | 1 |
p.R1170Q | KIRC | 1 |
p.S1512C | BLCA | 1 |
p.G1408D | PRAD | 1 |
p.C637G | LUAD | 1 |
p.K1203I | BLCA | 1 |
p.P422L | SKCM | 1 |
p.P758L | HNSC | 1 |
p.P1446L | PRAD | 1 |
p.W208X | KIRP | 1 |
p.A591T | LUAD | 1 |
p.A1142D | UCEC | 1 |
p.A54T | COAD | 1 |
p.E710K | BLCA | 1 |
p.H35Y | BLCA | 1 |
p.A353G | KIRP | 1 |
p.S1271F | CESC | 1 |
p.P664L | HNSC | 1 |
p.L1379M | KIRP | 1 |
p.E248D | BLCA | 1 |
p.V904M | BLCA | 1 |
p.E1201D | CESC | 1 |
p.F68L | UCEC | 1 |
p.A1225V | KIRP | 1 |
p.G115A | LUSC | 1 |
p.A1430V | PAAD | 1 |
p.K388M | HNSC | 1 |
p.R1089Q | PRAD | 1 |
p.N522S | UCEC | 1 |
p.S225L | SKCM | 1 |
p.R593H | COAD | 1 |
p.M206I | BLCA | 1 |
p.L704F | SKCM | 1 |
Top |
TissGeneCNV for DOT1L |
Copy number variations of TissGene across 28 cancer types (X-axis: cancer type and Y-axis: % of CNV samples) (TCGA Gistic2_CopyNumber_Gistic2_all_data_by_genes, Gistic2 copy number data, version 2016-08-16) |
Top |
TissGeneFusions for DOT1L |
Fusion genes including TissGene (ChimerDB 3.0, 2016-12-01 and TCGA fusion Portal 2015-12-01) |
Database | Src | Cancer type | Sample | Fusion gene | ORF | 5'-gene BP | 3'-gene BP |
Chimerdb3.0 | ChiTaRs | NA | AA554469 | WDR74-DOT1L | chr11:62600524 | chr19:2230330 | |
Chimerdb3.0 | ChiTaRs | NA | BE772409 | DOT1L-NEAT1 | chr19:2225432 | chr11:65191174 | |
Chimerdb3.0 | ChiTaRs | NA | BF847841 | DOT1L-COL6A1 | chr19:2220143 | chr21:47419985 | |
Chimerdb3.0 | ChiTaRs | NA | BF850201 | DOT1L-COL6A1 | chr19:2220134 | chr21:47420032 | |
Chimerdb3.0 | ChiTaRs | NA | BF849519 | DOT1L-COL6A1 | chr19:2220134 | chr21:47419998 | |
Chimerdb3.0 | ChiTaRs | NA | BF850059 | DOT1L-COL6A1 | chr19:2220134 | chr21:47419956 | |
Chimerdb3.0 | ChiTaRs | NA | BF847846 | DOT1L-COL6A1 | chr19:2220134 | chr21:47420031 | |
Chimerdb3.0 | ChiTaRs | NA | BF847866 | COL6A1-DOT1L | chr21:47420141 | chr19:2219943 | |
Chimerdb3.0 | ChiTaRs | NA | BF850194 | DOT1L-COL6A1 | chr19:2220134 | chr21:47420007 | |
Chimerdb3.0 | ChiTaRs | NA | CV336274 | DOT1L-COL6A1 | chr19:2220127 | chr21:47419956 | |
Chimerdb3.0 | FusionScan | LGG | TCGA-TM-A7CF-01A | DOT1L-TECR | In-Frame | chr19:2194576 | chr19:14673336 |
Chimerdb3.0 | FusionScan | LGG | TCGA-TM-A7CF-02A | DOT1L-TECR | In-Frame | chr19:2194576 | chr19:14673336 |
Chimerdb3.0 | TopHat-Fusion | LGG | TCGA-TM-A7CF-02A | DOT1L-TECR | In-Frame | chr19:2194575 | chr19:14673336 |
Chimerdb3.0 | TopHat-Fusion | LGG | TCGA-TM-A7CF-01A | DOT1L-TECR | In-Frame | chr19:2194575 | chr19:14673336 |
TCGAfusionPortal | PRADA | BRCA | TCGA-OL-A66I-01A | DOT1L-EPB41L2 | CDS-5UTR | Chr19:2180755 | Chr6:131277639 |
TCGAfusionPortal | PRADA | KIRC | TCGA-A3-3325-01A | DOT1L-ONECUT3 | Out-of-frame | Chr19:2207679 | Chr19:1775152 |
TCGAfusionPortal | PRADA | SKCM | TCGA-EB-A42Z-01A | HIVEP3-DOT1L | 5UTR-CDS | Chr1:42094420 | Chr19:2180712 |
Top |
TissGeneNet for DOT1L |
Co-expressed gene networks based on protein-protein interaction data (CePIN) (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (PINA2 ppi data) |
Top |
TissGeneProg for DOT1L |
Kaplan-Meier plots with logrank tests of overall survival (OS) using 28 cancer types (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (TCGA clinicalMatrix, phenotype data, version 2016-04-27) * Click on the image to enlarge it in a new window. |
Kaplan-Meier plots with logrank test of relapse free survival (RFS) using 28 cancer types (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (TCGA clinicalMatrix, phenotype data, version 2016-04-27) * Click on the image enlarge it in a new window. |
Forest plot of Cox proportional hazard ratio (HR) and 95% CI of overall survival (OS) using 28 cancer types (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (TCGA clinicalMatrix, phenotype data, version 2016-04-27) * Click on the image enlarge it in a new window. |
Forest plot of Cox proportional hazard ratio (HR) and 95% CI of relapse free survival (RFS) using 28 cancer types (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (TCGA clinicalMatrix, phenotype data, version 2016-04-27) * Click on the image enlarge it in a new window. |
Top |
TissGeneClin for DOT1L |
TissGeneDrug for DOT1L |
Drug information targeting TissGene (DrugBank Version 5.0.6, 2017-04-01) |
DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Top |
TissGeneDisease for DOT1L |
Disease information associated with TissGene (DisGeNet, 2016-06-01) |
Disease ID | Disease name | # pubmeds | Source |
umls:C0023418 | leukemia | 13 | BeFree |
umls:C0598766 | Leukemogenesis | 3 | BeFree |
umls:C0023467 | Leukemia, Myelocytic, Acute | 2 | BeFree |
umls:C0029408 | Degenerative polyarthritis | 2 | BeFree,GWASCAT |
umls:C0596263 | Carcinogenesis | 2 | BeFree |
umls:C0006142 | Malignant neoplasm of breast | 1 | BeFree |
umls:C0007193 | Cardiomyopathy, Dilated | 1 | BeFree |
umls:C0009402 | Colorectal Carcinoma | 1 | BeFree |
umls:C0011881 | Diabetic Nephropathy | 1 | BeFree |
umls:C0024299 | Lymphoma | 1 | BeFree |
umls:C0027051 | Myocardial Infarction | 1 | BeFree |
umls:C0030312 | Pancytopenia | 1 | BeFree |
umls:C0032617 | Polyuria | 1 | BeFree |
umls:C0042769 | Virus Diseases | 1 | BeFree |
umls:C0409959 | Osteoarthritis, Knee | 1 | BeFree |
umls:C0678222 | Breast Carcinoma | 1 | BeFree |
umls:C1527249 | Colorectal Cancer | 1 | BeFree |
umls:C1449563 | Cardiomyopathy, Familial Idiopathic | 0 | MGD |