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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

DOT1L Gene

protein-coding   GIFtS: 63
GCID: GC19P002115

DOT1-Like Histone H3K79 Methyltransferase

(Previous names: DOT1-like, histone H3 methyltransferase (S. cerevisiae))
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
DOT1-Like Histone H3K79 Methyltransferase1 2     DOT12 5
Histone Methyltransferase DOT1L1 2     KIAA18143 5
Histone H3-K79 Methyltransferase2 3     DOT1-Like, Histone H3 Methyltransferase (S. Cerevisiae)1
Lysine N-Methyltransferase 42 3     DOT1-Like, Histone H3 Methyltransferase2
H3-K79-HMTase2 3     Histone-Lysine N-Methyltransferase, H3 Lysine-79 Specific2
KMT42 3     EC 2.1.1.433
DOT1-Like Protein2 3     

External Ids:    HGNC: 249481   Entrez Gene: 844442   Ensembl: ENSG000001048857   OMIM: 6073755   UniProtKB: Q8TEK33   

Export aliases for DOT1L gene to outside databases

Previous GC identifers: GC19P002248 GC19P002104 GC19P001935


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for DOT1L Gene:
The protein encoded by this gene is a histone methyltransferase that methylates lysine-79 of histone H3. It is
inactive against free core histones, but shows significant histone methyltransferase activity against
nucleosomes. (provided by RefSeq, Aug 2011)

GeneCards Summary for DOT1L Gene: 
DOT1L (DOT1-like histone H3K79 methyltransferase) is a protein-coding gene. Diseases associated with DOT1L include osteoarthritis, and hepatocellular carcinoma. GO annotations related to this gene include transcription factor binding and histone-lysine N-methyltransferase activity.

UniProtKB/Swiss-Prot: DOT1L_HUMAN, Q8TEK3
Function: Histone methyltransferase. Methylates 'Lys-79' of histone H3. Nucleosomes are preferred as substrate
compared to free histones. Binds to DNA

Gene Wiki entry for DOT1L Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000019.9  NT_011255.14  NC_018930.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the DOT1L gene promoter:
         Sp1   GCNF   NRSF form 1   MIF-1   NRSF form 2   GATA-2   FOXI1   GCNF-1   Pax-4a   GCNF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidDOT1L promoter sequence
   Search SABiosciences Chromatin IP Primers for DOT1L

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DOT1L


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 19p13.3   Ensembl cytogenetic band:  19p13.3   HGNC cytogenetic band: 19p13.3

DOT1L Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DOT1L gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19P002115:  view genomic region     (about GC identifiers)

Start:
2,164,148 bp from pter      End:
2,232,577 bp from pter
Size:
68,430 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: DOT1L_HUMAN, Q8TEK3 (See protein sequence)
Recommended Name: Histone-lysine N-methyltransferase, H3 lysine-79 specific  
Size: 1739 amino acids; 184853 Da
Subunit: Interacts with MLLT10
Subcellular location: Nucleus
Miscellaneous: In contrast to other lysine histone methyltransferases, it does not contain a SET domain,
suggesting the existence of another mechanism for methylation of lysine residues of histones
Sequence caution: Sequence=AAC08316.1; Type=Erroneous gene model prediction;
6/15 PDB 3D structures from and Proteopedia for DOT1L (see all 15):
1NW3 (3D)        3QOW (3D)        3QOX (3D)        3SR4 (3D)        3SX0 (3D)        3UWP (3D)    
Secondary accessions: O60379 Q96JL1
Alternative splicing: 2 isoforms:  Q8TEK3-1   Q8TEK3-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for DOT1L: NX_Q8TEK3

Explore proteomics data for DOT1L at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q8TEK3

  • DOT1L Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    DOT1L Protein Expression
    REFSEQ proteins: NP_115871.1  
    ENSEMBL proteins: 
     ENSP00000381657   ENSP00000404284   ENSP00000388276   ENSP00000407411   ENSP00000412916  

    Human Recombinant Protein Products for DOT1L: 
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    Novus Biologicals DOT1L Protein
    Novus Biologicals DOT1L Lysate
    Sino Biological Recombinant Protein for DOT1L
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for DOT1L 

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--

    DOT1L for ontologies           About GeneDecksing



    DOT1L Antibody Products: 
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    Cloud-Clone Corp. Antibodies for DOT1L 
    ThermoFisher Antibodies for DOT1L
    LSBio Antibodies in human, mouse, rat for DOT1L 

    Assay Products for DOT1L: 
    Browse Kits and Assays available from EMD Millipore
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    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for DOT1L
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for DOT1L 
    Cloud-Clone Corp. CLIAs for DOT1L


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    KMT: Chromatin-modifying enzymes / K-methyltransferases

    4 InterPro protein domains:
     IPR017956 AT_hook_DNA-bd_motif
     IPR013110 DOT1
     IPR025789 Histone_H3-K79_MeTrfase
     IPR021169 Histone_H3-K79_MeTrfase_met

    Graphical View of Domain Structure for InterPro Entry Q8TEK3

    ProtoNet protein and cluster: Q8TEK3

    UniProtKB/Swiss-Prot: DOT1L_HUMAN, Q8TEK3
    Similarity: Belongs to the class I-like SAM-binding methyltransferase superfamily. DOT1 family
    Similarity: Contains 1 DOT1 domain


    DOT1L for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: DOT1L_HUMAN, Q8TEK3
    Function: Histone methyltransferase. Methylates 'Lys-79' of histone H3. Nucleosomes are preferred as substrate
    compared to free histones. Binds to DNA
    Catalytic activity: S-adenosyl-L-methionine + L-lysine-[histone] = S-adenosyl-L-homocysteine +
    N(6)-methyl-L-lysine-[histone]

         Enzyme Number (IUBMB): EC 2.1.1.431

         Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IEA--
    GO:0005515protein binding IPI--
    GO:0008134transcription factor binding IPI--
    GO:0018024histone-lysine N-methyltransferase activity IDA17707234
    GO:0042054histone methyltransferase activity ----
         
    DOT1L for ontologies           About GeneDecksing


    Phenotypes:
         13 MGI mutant phenotypes (inferred from 8 alleles(MGI details for Dot1l):
     cardiovascular system  cellular  embryogenesis  growth/size  hematopoietic system 
     homeostasis/metabolism  immune system  limbs/digits/tail  mortality/aging  muscle 
     normal  tumorigenesis  vision/eye 

    DOT1L for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Dot1ltm1.1Tche for DOT1L

       inGenious Targeting Laboratory - Custom generated mouse model solutions for DOT1L 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for DOT1L

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for DOT1L 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for DOT1L 

    miRNA
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    8/49 QIAGEN miScript miRNA Assays for microRNAs that regulate DOT1L (see all 49):
    hsa-miR-548j hsa-miR-429 hsa-let-7d hsa-miR-513a-5p hsa-miR-29a hsa-miR-128 hsa-let-7g hsa-miR-9
    SwitchGear 3'UTR luciferase reporter plasmidDOT1L 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DOT1L


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for DOT1L About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Transcriptional misregulation in cancer
    Transcriptional misregulation in cancer
    2Lysine degradation
    Lysine degradation

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways




    2         Kegg Pathways  (Kegg details for DOT1L):
        Lysine degradation
    Transcriptional misregulation in cancer


    DOT1L for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for DOT1L

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/41 Interacting proteins for DOT1L (Q8TEK31, 2, 3 ENSP000003816574) via UniProtKB, MINT, STRING, and/or I2D (see all 41)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MLLT1Q031111, 3, ENSP000002526744EBI-2619253,EBI-1384215 I2D: score=2 STRING: ENSP00000252674
    BAG6P463792, ENSP000003651314MINT-8380894 MINT-8380903 STRING: ENSP00000365131
    MLLT3P425683, ENSP000003696954I2D: score=2 STRING: ENSP00000369695
    CCNT1O605633, ENSP000002619004I2D: score=1 STRING: ENSP00000261900
    GNL3Q9BVP23, ENSP000003957724I2D: score=1 STRING: ENSP00000395772
    About this table

    Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0034968histone lysine methylation IDA17707234
    GO:0046425regulation of JAK-STAT cascade IDA--
    GO:2000677regulation of transcription regulatory region DNA binding IMP--

    DOT1L for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    DOT1L for compounds           About GeneDecksing

    EMD Millipore small molecules for DOT1L:
    Small Molecule - inhibitor
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for DOT1L

    3 HMDB Compounds for DOT1L    About this table
    CompoundSynonyms CAS #PubMed Ids
    L-Lysine(+)-S-Lysine (see all 25)56-87-1--
    S-Adenosylhomocysteine(S)-5'-(S)-(3-Amino-3-carboxypropyl)-5'-thioadenosine (see all 19)979-92-0--
    S-Adenosylmethionine(3S)-5'-[(3-amino-3-carboxypropyl)methylsulfonio]-5'-deoxyadenosine (see all 16)29908-03-0--

    1 Novoseek inferred chemical compound relationship for DOT1L gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    lysine 58.4 2 14572310 (1), 18065378 (1)

    Search CenterWatch for drugs/clinical trials and news about DOT1L

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for DOT1L gene: 
    NM_032482.2  

    Unigene Cluster for DOT1L:

    DOT1-like, histone H3 methyltransferase (S. cerevisiae)
    Hs.713641  [show with all ESTs]
    Unigene Representative Sequence: NM_032482
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000398665(uc002lvb.4 uc002lvc.1) ENST00000478937 ENST00000452696
    ENST00000440640 ENST00000591498 ENST00000586024 ENST00000472540 ENST00000482433(uc002lve.1)
    ENST00000457590 ENST00000446286
    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat DOT1L
    8/49 QIAGEN miScript miRNA Assays for microRNAs that regulate DOT1L (see all 49):
    hsa-miR-548j hsa-miR-429 hsa-let-7d hsa-miR-513a-5p hsa-miR-29a hsa-miR-128 hsa-let-7g hsa-miR-9
    SwitchGear 3'UTR luciferase reporter plasmidDOT1L 3' UTR sequence
    Inhib. RNA
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    Primer
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DOT1L

    Additional mRNA sequence: 

    AB058717.1 AF509504.1 AK074120.1 AL080221.1 BC021037.1 BC032803.1 

    15 DOTS entries:

    DT.100024459  DT.99936606  DT.100749671  DT.310751  DT.121414401  DT.92418676  DT.95159594  DT.100001366 
    DT.100749670  DT.443785  DT.92033664  DT.95205123  DT.95219318  DT.100884259  DT.91967410 

    24/175 AceView cDNA sequences (see all 175):

    BM708530 CB528521 CA433891 AI224128 BF514076 AW338905 AL080221 BU623754 
    BQ673798 BQ229264 AB058717 BF847839 AL040709 AK074120 BM710320 BM725109 
    BF982417 BC021037 BU622332 BM797557 AI026903 BU191550 BF343473 AA831699 

    GeneLoc Exon Structure

    5/6 Alternative Splicing Database (ASD) splice patterns (SP) for DOT1L (see all 6)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16a · 16b ^ 17 ^ 18 ^ 19 ^ 20 ^ 21a ·
    SP1:                                -                 -                 -                                                                 -                     
    SP2:                                                                                                                                      -                     
    SP3:                                -                 -                                                                                                         
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 21b ^ 22 ^ 23 ^ 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32a · 32b
    SP1:                                                        -     -               
    SP2:                                                                              
    SP3:                                                                              
    SP4:                                                                              
    SP5:                                                                              


    ECgene alternative splicing isoforms for DOT1L

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    DOT1L expression in normal human tissues (normalized intensities)      DOT1L embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTGCCCGCCG
    DOT1L Expression
    About this image


    DOT1L expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/4 selected tissues (see all 4) fully expand
     
     Bone (Muscoskeletal System)
             Mandibular Condyle
     
     Lymph (Hematopoietic System)
             lymph node   
     
     Testis (Reproductive System)
     
     Pancreas (Endocrine System)

    See DOT1L Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for DOT1L

    SOURCE GeneReport for Unigene cluster: Hs.713641
        SABiosciences Expression via Pathway-Focused PCR Array including DOT1L: 
              Epigenetic Chromatin Modification Enzymes in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DOT1L

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals and fungi.

    Orthologs for DOT1L gene from 8/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Dot1l1 , 5 DOT1-like, histone H3 methyltransferase (S. cerevisiae)1, 5 82.31(n)1
    84.79(a)1
      10 (39.72 cM)5
    2082661  NM_199322.11  NP_955354.11 
     807552065 
    chicken
    (Gallus gallus)
    Aves DOT1L1 DOT1-like, histone H3 methyltransferase (S. cerevisiae) 74.71(n)
    77.01(a)
      420078  XM_003642862.1  XP_003642910.1 
    lizard
    (Anolis carolinensis)
    Reptilia DOT1L6
    Uncharacterized protein
    97(a)
    1 ↔ 1
    AAWZ02039615(3100-8206)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.145612 Xenopus laevis transcribed sequences 78.77(n)    BJ065417.1 
    zebrafish
    (Danio rerio)
    Actinopterygii BI864981.12   -- 84.81(n)    BI864981.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta gpp6
    grappa
    17(a)
    1 ↔ 1
    3R(2232579-2273729)
    worm
    (Caenorhabditis elegans)
    Secernentea F55G7.26
    ZC53.66
    (see all 5)
    Protein ZC53.6
    (see all 5)
    25(a)
    25(a)
    (see all 5)
    many → 1
    many → 1
    (see all 5)
    X(11929899-11931646)
    X(1917469-1919709)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes DOT16
    Nucleosomal histone H3-Lys79 methylase; methylatio...
    20(a)
    1 ↔ 1
    IV(1342493-1344241)


    ENSEMBL Gene Tree for DOT1L (if available)
    TreeFam Gene Tree for DOT1L (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1987 SNPs in DOT1L are shown (see all 1987)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs350491771,2
    C,F--1933068(+) CTCCCG/AGACTC 1 -- us2k16Minor allele frequency- A:0.37NA EA 248
    rs1135362871,2
    C,F--1933432(+) GCATCT/CCTACT 1 -- us2k12Minor allele frequency- C:0.11WA 120
    rs1999991621,2
    C--1933634(-) TTTTTG/TGGGTT 1 -- us2k10--------
    rs1379548981,2
    C--1935199(+) CCTACC/TTCCCG 1 -- int10--------
    rs129853461,2
    C--1935258(+) CGCGCT/ACACCG 1 -- int15Minor allele frequency- A:0.39NA EA 246
    rs106694211,2
    C--1945917(+) TAtttA/Tttttt 1 -- int1 trp30--------
    rs1464841311,2
    C--2088827(+) AGGCAC/TGAGTC 1 -- us2k10--------
    rs1918275961,2
    --2088927(+) CACCCG/TCCTCG 1 -- us2k10--------
    rs1830165911,2
    --2088959(+) ACAAGC/TGTGAG 1 -- us2k10--------
    rs23855431,2
    C,A--2089284(-) CTGTCG/ACCCAG 1 -- us2k12Minor allele frequency- A:0.25NA 4

    HapMap Linkage Disequilibrium report for DOT1L (2164148 - 2232577 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/19 variations for DOT1L (see all 19):    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv2389CNV Insertion18451855
    dgv3614n71CNV Loss21882294
    nsv828393CNV Loss20364138
    nsv910499CNV Loss21882294
    nsv833706CNV Loss17160897
    nsv470108CNV Loss18288195
    nsv910623CNV Loss21882294
    nsv833707CNV Loss17160897
    dgv3631n71CNV Loss21882294
    dgv3630n71CNV Loss21882294

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 607375    OMIM disorders: --

    3 diseases for DOT1L:    About MalaCards
    osteoarthritis    hepatocellular carcinoma    leukemia

    1 disease from the University of Copenhagen DISEASES database for DOT1L:
    Leukemia

    DOT1L for disorders           About GeneDecksing

    Genetic Association Database (GAD): DOT1L
    Human Genome Epidemiology (HuGE) Navigator: DOT1L (3 documents)

    Export disorders for DOT1L gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for DOT1L gene, integrated from 9 sources (see all 58):
    (articles sorted by number of sources associating them with DOT1L)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Methylation of H3-lysine 79 is mediated by a new family of HMTases without a SET domain. (PubMed id 12123582)1, 2, 3 Feng Q....Zhang Y. (2002)
    2. Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 11347906)1, 2, 3 Nagase T.... Ohara O. (2001)
    3. Structure of the catalytic domain of human DOT1L, a non-SET domain nucleosomal histone methyltransferase. (PubMed id 12628190)1, 2, 9 Min J.... Xu R.-M. (2003)
    4. A large-scale candidate gene association study of age at menarche and age at natural menopause. (PubMed id 20734064)1, 4 He C....Hunter D.J. (2010)
    5. The role of height-associated loci identified in geno me wide association studies in the determination of pediatric stature. (PubMed id 20546612)1, 4 Zhao J....Grant S.F. (2010)
    6. Genetic determinants of height growth assessed longitudinally from infancy to adulthood in the northern Finland birth cohort 1966. (PubMed id 19266077)1, 4 Sovio U....Jarvelin M.R. (2009)
    7. Identification of ten loci associated with height highlights new biological pathways in human growth. (PubMed id 18391950)1, 4 Lettre G....Hirschhorn J.N. (2008)
    8. hDOT1L links histone methylation to leukemogenesis. (PubMed id 15851025)1, 2 Okada Y.... Zhang Y. (2005)
    9. Characterization of long cDNA clones from human adult spleen. II. The complete sequences of 81 cDNA clones. (PubMed id 12693554)1, 2 Jikuya H....Ohara O. (2003)
    10. Characterization of the DOT1L network: implications o f diverse roles for DOT1L. (PubMed id 20431927)1, 9 Park G....Kim J.E. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 84444 HGNC: 24948 AceView: DOT1L Ensembl:ENSG00000104885 euGenes: HUgn84444
    ECgene: DOT1L Kegg: 84444 H-InvDB: DOT1L

    (According to HUGE)
    About This Section
    HUGE: KIAA1814

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for DOT1L Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for DOT1L gene:
    Search GeneIP for patents involving DOT1L

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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    About This Section

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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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