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DOT1L (DOT1 like histone lysine methyltransferase)

Identity

Alias_namesDOT1-like
Alias_symbol (synonym)KIAA1814
DOT1
KMT4
Other alias
HGNC (Hugo) DOT1L
LocusID (NCBI) 84444
Atlas_Id 43797
Location 19p13.3  [Link to chromosome band 19p13]
Location_base_pair Starts at 2164149 and ends at 2232578 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
COL6A1 (21q22.3) / DOT1L (19p13.3)DOT1L (19p13.3) / COL6A1 (21q22.3)DOT1L (19p13.3) / CSNK1G2 (19p13.3)
DOT1L (19p13.3) / EPB41L2 (6q23.1)DOT1L (19p13.3) / NEAT1 (11q13.1)DOT1L (19p13.3) / ONECUT3 (19p13.3)
HIVEP3 (1p34.2) / DOT1L (19p13.3)WDR74 (11q12.3) / DOT1L (19p13.3)DOT1L 19p13.3 / EPB41L2 6q23.1
DOT1L 19p13.3 / ONECUT3 19p13.3HIVEP3 1p34.2 / DOT1L 19p13.3

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


Other Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(4;11)(q21;q23) KMT2A/AFF1


External links

Nomenclature
HGNC (Hugo)DOT1L   24948
Cards
Entrez_Gene (NCBI)DOT1L  84444  DOT1 like histone lysine methyltransferase
AliasesDOT1; KMT4
GeneCards (Weizmann)DOT1L
Ensembl hg19 (Hinxton)ENSG00000104885 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000104885 [Gene_View]  chr19:2164149-2232578 [Contig_View]  DOT1L [Vega]
ICGC DataPortalENSG00000104885
TCGA cBioPortalDOT1L
AceView (NCBI)DOT1L
Genatlas (Paris)DOT1L
WikiGenes84444
SOURCE (Princeton)DOT1L
Genetics Home Reference (NIH)DOT1L
Genomic and cartography
GoldenPath hg38 (UCSC)DOT1L  -     chr19:2164149-2232578 +  19p13.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)DOT1L  -     19p13.3   [Description]    (hg19-Feb_2009)
EnsemblDOT1L - 19p13.3 [CytoView hg19]  DOT1L - 19p13.3 [CytoView hg38]
Mapping of homologs : NCBIDOT1L [Mapview hg19]  DOT1L [Mapview hg38]
OMIM607375   
Gene and transcription
Genbank (Entrez)AB058717 AF509504 AK074120 AK095280 AL080221
RefSeq transcript (Entrez)NM_032482
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)DOT1L
Cluster EST : UnigeneHs.713641 [ NCBI ]
CGAP (NCI)Hs.713641
Alternative Splicing GalleryENSG00000104885
Gene ExpressionDOT1L [ NCBI-GEO ]   DOT1L [ EBI - ARRAY_EXPRESS ]   DOT1L [ SEEK ]   DOT1L [ MEM ]
Gene Expression Viewer (FireBrowse)DOT1L [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)84444
GTEX Portal (Tissue expression)DOT1L
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8TEK3   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8TEK3  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8TEK3
Splice isoforms : SwissVarQ8TEK3
Catalytic activity : Enzyme2.1.1.43 [ Enzyme-Expasy ]   2.1.1.432.1.1.43 [ IntEnz-EBI ]   2.1.1.43 [ BRENDA ]   2.1.1.43 [ KEGG ]   
PhosPhoSitePlusQ8TEK3
Domaine pattern : Prosite (Expaxy)DOT1 (PS51569)   
Domains : Interpro (EBI)DOT1_dom    DOT1L/grappa    H3-K79_meTrfase    SAM-dependent_MTases   
Domain families : Pfam (Sanger)DOT1 (PF08123)   
Domain families : Pfam (NCBI)pfam08123   
Conserved Domain (NCBI)DOT1L
DMDM Disease mutations84444
Blocks (Seattle)DOT1L
PDB (SRS)1NW3    2MV7    3QOW    3QOX    3SR4    3SX0    3UWP    4EK9    4EKG    4EKI    4EQZ    4ER0    4ER3    4ER5    4ER6    4ER7    4HRA    4WVL    5DRT    5DRY    5DSX    5DT2    5DTM    5DTQ    5DTR    5JUW   
PDB (PDBSum)1NW3    2MV7    3QOW    3QOX    3SR4    3SX0    3UWP    4EK9    4EKG    4EKI    4EQZ    4ER0    4ER3    4ER5    4ER6    4ER7    4HRA    4WVL    5DRT    5DRY    5DSX    5DT2    5DTM    5DTQ    5DTR    5JUW   
PDB (IMB)1NW3    2MV7    3QOW    3QOX    3SR4    3SX0    3UWP    4EK9    4EKG    4EKI    4EQZ    4ER0    4ER3    4ER5    4ER6    4ER7    4HRA    4WVL    5DRT    5DRY    5DSX    5DT2    5DTM    5DTQ    5DTR    5JUW   
PDB (RSDB)1NW3    2MV7    3QOW    3QOX    3SR4    3SX0    3UWP    4EK9    4EKG    4EKI    4EQZ    4ER0    4ER3    4ER5    4ER6    4ER7    4HRA    4WVL    5DRT    5DRY    5DSX    5DT2    5DTM    5DTQ    5DTR    5JUW   
Structural Biology KnowledgeBase1NW3    2MV7    3QOW    3QOX    3SR4    3SX0    3UWP    4EK9    4EKG    4EKI    4EQZ    4ER0    4ER3    4ER5    4ER6    4ER7    4HRA    4WVL    5DRT    5DRY    5DSX    5DT2    5DTM    5DTQ    5DTR    5JUW   
SCOP (Structural Classification of Proteins)1NW3    2MV7    3QOW    3QOX    3SR4    3SX0    3UWP    4EK9    4EKG    4EKI    4EQZ    4ER0    4ER3    4ER5    4ER6    4ER7    4HRA    4WVL    5DRT    5DRY    5DSX    5DT2    5DTM    5DTQ    5DTR    5JUW   
CATH (Classification of proteins structures)1NW3    2MV7    3QOW    3QOX    3SR4    3SX0    3UWP    4EK9    4EKG    4EKI    4EQZ    4ER0    4ER3    4ER5    4ER6    4ER7    4HRA    4WVL    5DRT    5DRY    5DSX    5DT2    5DTM    5DTQ    5DTR    5JUW   
SuperfamilyQ8TEK3
Human Protein AtlasENSG00000104885
Peptide AtlasQ8TEK3
HPRD10455
IPIIPI00873164   IPI00289034   IPI00880197   IPI00878011   IPI00877878   IPI00878344   
Protein Interaction databases
DIP (DOE-UCLA)Q8TEK3
IntAct (EBI)Q8TEK3
FunCoupENSG00000104885
BioGRIDDOT1L
STRING (EMBL)DOT1L
ZODIACDOT1L
Ontologies - Pathways
QuickGOQ8TEK3
Ontology : AmiGODNA damage checkpoint  chromosome, telomeric region  DNA binding  protein binding  nucleus  nucleoplasm  nucleoplasm  DNA repair  chromatin silencing at telomere  positive regulation of cell proliferation  histone-lysine N-methyltransferase activity  histone-lysine N-methyltransferase activity  histone methyltransferase activity (H3-K79 specific)  telomere organization  histone H3-K79 methylation  histone methyltransferase activity  intracellular membrane-bounded organelle  protein complex  positive regulation of transcription from RNA polymerase II promoter  regulation of JAK-STAT cascade  regulation of transcription regulatory region DNA binding  
Ontology : EGO-EBIDNA damage checkpoint  chromosome, telomeric region  DNA binding  protein binding  nucleus  nucleoplasm  nucleoplasm  DNA repair  chromatin silencing at telomere  positive regulation of cell proliferation  histone-lysine N-methyltransferase activity  histone-lysine N-methyltransferase activity  histone methyltransferase activity (H3-K79 specific)  telomere organization  histone H3-K79 methylation  histone methyltransferase activity  intracellular membrane-bounded organelle  protein complex  positive regulation of transcription from RNA polymerase II promoter  regulation of JAK-STAT cascade  regulation of transcription regulatory region DNA binding  
Pathways : KEGGLysine degradation    Transcriptional misregulation in cancer   
NDEx NetworkDOT1L
Atlas of Cancer Signalling NetworkDOT1L
Wikipedia pathwaysDOT1L
Orthology - Evolution
OrthoDB84444
GeneTree (enSembl)ENSG00000104885
Phylogenetic Trees/Animal Genes : TreeFamDOT1L
HOVERGENQ8TEK3
HOGENOMQ8TEK3
Homologs : HomoloGeneDOT1L
Homology/Alignments : Family Browser (UCSC)DOT1L
Gene fusions - Rearrangements
Fusion : MitelmanDOT1L/CSNK1G2 [19p13.3/19p13.3]  
Fusion : MitelmanDOT1L/EPB41L2 [19p13.3/6q23.1]  [t(6;19)(q23;p13)]  
Fusion : MitelmanDOT1L/ONECUT3 [19p13.3/19p13.3]  [t(19;19)(p13;p13)]  
Fusion : MitelmanHIVEP3/DOT1L [1p34.2/19p13.3]  [t(1;19)(p34;p13)]  
Fusion: TCGADOT1L 19p13.3 EPB41L2 6q23.1 BRCA
Fusion: TCGADOT1L 19p13.3 ONECUT3 19p13.3 KIRC
Fusion: TCGAHIVEP3 1p34.2 DOT1L 19p13.3 SKCM
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerDOT1L [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)DOT1L
dbVarDOT1L
ClinVarDOT1L
1000_GenomesDOT1L 
Exome Variant ServerDOT1L
ExAC (Exome Aggregation Consortium)DOT1L (select the gene name)
Genetic variants : HAPMAP84444
Genomic Variants (DGV)DOT1L [DGVbeta]
DECIPHERDOT1L [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisDOT1L 
Mutations
ICGC Data PortalDOT1L 
TCGA Data PortalDOT1L 
Broad Tumor PortalDOT1L
OASIS PortalDOT1L [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICDOT1L  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDDOT1L
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch DOT1L
DgiDB (Drug Gene Interaction Database)DOT1L
DoCM (Curated mutations)DOT1L (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)DOT1L (select a term)
intoGenDOT1L
Cancer3DDOT1L(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM607375   
Orphanet
MedgenDOT1L
Genetic Testing Registry DOT1L
NextProtQ8TEK3 [Medical]
TSGene84444
GENETestsDOT1L
Target ValidationDOT1L
Huge Navigator DOT1L [HugePedia]
snp3D : Map Gene to Disease84444
BioCentury BCIQDOT1L
ClinGenDOT1L
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD84444
Chemical/Pharm GKB GenePA134993717
Clinical trialDOT1L
Miscellaneous
canSAR (ICR)DOT1L (select the gene name)
Probes
Litterature
PubMed70 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineDOT1L
EVEXDOT1L
GoPubMedDOT1L
iHOPDOT1L
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed Jun 7 12:31:38 CEST 2017

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