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

MLLT3 Gene

protein-coding   GIFtS: 60
GCID: GC09M020334

myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog,...

(Previous names: myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila)...)
 Explore 16 diseases affiliated with
MLLT3 via our new
 Human Malady Compendium 
Biological research products
for MLLT3
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Myeloid/Lymphoid Or Mixed-Lineage Leukemia (Trithorax Homolog, Drosophila);
Translocated To, 31 2
     YEATS Domain-Containing Protein 32 3
AF91 2 3 5     AF-91
YEATS31 2 3     Myeloid/Lymphoid Or Mixed-Lineage Leukemia (Trithorax (Drosophila) Homolog);
Translocated To, 31
Myeloid/Lymphoid Or Mixed-Lineage Leukemia Translocated To Chromosome 3 Protein2 3     Myeloid/Lymphoid Or Mixed-Lineage Leukemia (Trithorax Homolog); Translocated
To, 32
ALL1-Fused Gene From Chromosome 9 Protein2 3     Protein AF-92

External Ids:    HGNC: 71361   Entrez Gene: 43002   Ensembl: ENSG000001718437   OMIM: 1595585   UniProtKB: P425683   

Export aliases for MLLT3 gene to outside databases

Previous GC identifers: GC09M020675 GC09M020533


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

UniProtKB/Swiss-Prot: AF9_HUMAN, P42568
Function: Component of the super elongation complex (SEC), a complex required to increase the catalytic rate of RNA
polymerase II transcription by suppressing transient pausing by the polymerase at multiple sites along the DNA

Gene Wiki entry for MLLT3


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000009.11  NC_018920.1  NT_008413.18  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the MLLT3 gene promoter:
         SRF   SRF (504 AA)   C/EBPalpha   MEF-2A   AREB6   POU2F1   POU2F1b   POU2F1a   aMEF-2   RSRFC4   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMLLT3 promoter sequence
   Search SABiosciences Chromatin IP Primers for MLLT3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MLLT3


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

Entrez Gene cytogenetic band: 9p22   Ensembl cytogenetic band:  9p21.3   HGNC cytogenetic band: 9p22

MLLT3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MLLT3 gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09M020334:  view genomic region     (about GC identifiers)

Start:
20,341,663 bp from pter      End:
20,622,542 bp from pter
Size:
280,880 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: AF9_HUMAN, P42568 (See protein sequence)
Recommended Name: Protein AF-9  
Size: 568 amino acids; 63351 Da
Subunit: Component of the super elongation complex (SEC), at least composed of EAF1, MLLT3/AF9, AFF (AFF1 or AFF4), the
P-TEFb complex and ELL (ELL, ELL2 or ELL3). Interacts with BCOR. Interacts with CBX8
Subcellular location: Nucleus (By similarity)
1 PDB 3D structure from and Proteopedia for MLLT3:
2LM0 (3D)    
Secondary accessions: B1AMQ2 D3DRJ8

Explore the universe of human proteins at neXtProt for MLLT3: NX_P42568

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P42568

  • MLLT3 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_004520.2  
    ENSEMBL proteins: 
     ENSP00000369695   ENSP00000369680   ENSP00000369678   ENSP00000410482   ENSP00000348196  

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    Browse ProSpec Recombinant Proteins
    Uscn Proteins for MLLT3

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

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


    MLLT3 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for MLLT3


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    MLLT3 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR005033 YEATS

    Graphical View of Domain Structure for InterPro Entry P42568

    ProtoNet protein and cluster: P42568

    1 Blocks protein family: IPB005033 YEATS family

    UniProtKB/Swiss-Prot: AF9_HUMAN, P42568
    Similarity: Contains 1 YEATS domain


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: AF9_HUMAN, P42568
    Function: Component of the super elongation complex (SEC), a complex required to increase the catalytic rate of RNA
    polymerase II transcription by suppressing transient pausing by the polymerase at multiple sites along the DNA

         Genatlas biochemistry entry for MLLT3:
    AF-9 protein,fused with HRX (MLL),in acute myeloid/lymphoid,monoblastic leukemia with granulocytic sarcomas
    mixed-lineage leukemia,with translocation t(9;11)(p22;q23)

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    hsa-miR-3938 hsa-miR-449a hsa-miR-124 hsa-miR-133a hsa-miR-3613-3p hsa-miR-506 hsa-miR-616 hsa-miR-34c-5p
    SwitchGear 3'UTR luciferase reporter plasmidMLLT3 3' UTR sequence
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    Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI--


    MLLT3 for ontologies           About GeneDecksing


    Animal Models:
         8 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Mllt3):
     embryogenesis  growth/size  hematopoietic system  immune system  mortality/aging 
     no phenotypic analysis  skeleton  tumorigenesis 

    MLLT3 for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for MLLT3

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

    5/41 Interacting proteins for MLLT3 (P425681, 2, 3 ENSP000003696954) via UniProtKB, MINT, STRING, and/or I2D (see all 41)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    APPBP2Q926242, 3, ENSP000000831824MINT-67647 I2D: score=4 STRING: ENSP00000083182
    PTNP212462, 3MINT-63744 I2D: score=5 
    LRIF1Q5T3J32, 3MINT-63746 I2D: score=4 
    AFF4Q9UHB71, 3, ENSP000002653434EBI-716132,EBI-1384303 I2D: score=2 STRING: ENSP00000265343
    MCM6Q145662, 3, ENSP000002641564MINT-68179 I2D: score=4 STRING: ENSP00000264156
    About this table

    Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-dependent IEA--
    GO:0006355regulation of transcription, DNA-dependent IEA--
    GO:0007379segment specification IEA--
    GO:0009952anterior/posterior pattern specification IEA--
    GO:0090090negative regulation of canonical Wnt receptor signaling pathway IGI19591803


    MLLT3 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for MLLT3
    Search CenterWatch for drugs/clinical trials and news about MLLT3 / AF9 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    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, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for MLLT3 gene: 
    NM_004529.2  

    Unigene Cluster for MLLT3:

    Myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3
    Hs.591085  [show with all ESTs]
    Unigene Representative Sequence: NM_004529
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000380338(uc011lne.1 uc011lnf.1 uc003zoe.2) ENST00000380323
    ENST00000469261 ENST00000488705 ENST00000380321 ENST00000468513 ENST00000491137
    ENST00000475957(uc003zof.3) ENST00000429426 ENST00000355930

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    hsa-miR-3938 hsa-miR-449a hsa-miR-124 hsa-miR-133a hsa-miR-3613-3p hsa-miR-506 hsa-miR-616 hsa-miR-34c-5p
    SwitchGear 3'UTR luciferase reporter plasmidMLLT3 3' UTR sequence
    Inhib. RNA
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    Additional cDNA sequence: 

    AK128222.1 AK225957.1 AK297587.1 AK301474.1 AK312914.1 BC030550.1 BC036089.1 BX649194.1 
    D16688.1 EF406122.1 L13744.1 

    12 DOTS entries:

    DT.114118  DT.121208968  DT.101959995  DT.91758472  DT.91894374  DT.100836178  DT.121208959  DT.453972 
    DT.97778208  DT.99994733  DT.121208926  DT.99966489 

    24/91 AceView cDNA sequences (see all 91):

    NM_004529 BC030550 AW163788 AW302520 AK128222 AI375975 BU623899 BU733026 
    AI554049 AA621884 AI911245 L13744 AA442179 BM664793 F11547 BI710808 
    BI857131 AW044133 BX452207 BP347393 BM310961 BU616826 BP376873 BX649194 

    GeneLoc Exon Structure


    (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

    MLLT3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CAAAAGAAAG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See MLLT3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MLLT3

    SOURCE GeneReport for Unigene cluster: Hs.591085
        SABiosciences Custom PCR Arrays for MLLT3
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    In Situ
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    (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.

    Orthologs for MLLT3 gene from 5/20 species (see all 20)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves MLLT31 myeloid/lymphoid or mixed-lineage leukemia (trithorax more 80.31(n)
    83.07(a)
      427234  XM_424818.3  XP_424818.3 
    lizard
    (Anolis carolinensis)
    Reptilia MLLT36
    --
    83(a)
    1 ↔ 1
    2(62092364-62148753)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.253972 Xenopus laevis transcribed sequence with moderate similarity more 81.79(n)    BM180544.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufc39c112 Transcribed sequence with moderate similarity to protein more 78.42(n)    57049447 
    fruit fly
    (Drosophila melanogaster)
    Insecta ear3 transcription initiation from Pol II
    promoter more
    35(a)   88F1   --


    ENSEMBL Gene Tree for MLLT3 (if available)
    TreeFam Gene Tree for MLLT3 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for MLLT3 gene
    MLLT12  
    4 SIMAP similar genes for MLLT3 using alignment to 5 protein entries:     AF9_HUMAN (see all proteins):
    DKFZp686D09204    LTG9/MLLT3    MLLT1    YEATS4

    MLLT3 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/4841 NCBI SNPs in MLLT3 are shown (see all 4841    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1855079621,2
    --20344524(+) CACATA/CAAGAA 1 -- ds50010--------
    rs1906645361,2
    --20344533(+) AAGTGC/GACAAT 1 -- ds50010--------
    rs763370531,2
    F,--20344560(+) GTACGG/TTTCAT 1 -- ds50011Minor allele frequency- T:0.04WA 118
    rs1830177381,2
    --20344629(+) ACGCTA/TCAGAG 1 -- ds50010--------
    rs1880890021,2
    --20344654(+) GAGCAG/TGGCTG 1 -- ds50010--------
    rs1392166861,2
    --20344841(+) AAGACA/GGCATC 1 -- ds50010--------
    rs1452907081,2
    --20344874(+) GATACC/TGGTCT 1 -- ds50010--------
    rs1932337061,2
    --20344899(+) AGACTG/TTCTTA 1 -- ds50010--------
    rs1472043491,2
    --20345020(+) TCTCCA/TCTTAT 1 -- ut310--------
    rs1827171611,2
    --20345091(+) CTTTCA/TTTTGC 1 -- ut310--------

    HapMap Linkage Disequilibrium report for MLLT3 (20341663 - 20591663 bp, first 250kb of MLLT3)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for MLLT3
         2 CNVs: 39546 52762
    Human Gene Mutation Database (HGMD): MLLT3

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    MLLT3 for disorders           About GeneDecksing

    OMIM gene information: 159558    OMIM disorders: --

    UniProtKB/Swiss-Prot: AF9_HUMAN, P42568
  • Note=A chromosomal aberration involving MLLT3 is associated with acute leukemias. Translocation
  • t(9;11)(p22;q23) with MLL/HRX. The result is a rogue activator protein

    16 diseases for MLLT3:    About MalaCards
    leukemia    polycythemia vera    monocytic leukemia    acute monocytic leukemia
    lymphoblastic leukemia    acute lymphoblastic leukemia    polycythemia    acute myeloid leukemia
    myeloid leukemia    childhood leukemia    acute leukemia    bipolar disorder
    aldosteronism    lung cancer    sarcoma    schizophrenia

    1 disease from the University of Copenhagen DISEASES database for MLLT3:
    Leukemia

    5 Novoseek disease relationships for MLLT3 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    leukemogenesis 71.5 1 10861294 (1)
    lymphoblastic leukemia acute 62.5 1 9331569 (1)
    leukemia 59 6 9331569 (2), 8681380 (1), 17344103 (1), 18948748 (1)
    acute leukemia 56.8 1 15269783 (1)
    chromosomal aberrations 47.5 2 8506309 (1), 9331569 (1)

    Human Genome Epidemiology (HuGE) Navigator: MLLT3 (3 documents)

    Export disorders for MLLT3 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 MLLT3 gene, integrated from 9 sources (see all 73):
    (articles sorted by number of sources associating them with MLLT3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Genes on chromosomes 4, 9, and 19 involved in 11q23 abnormalities in acute leukemia share sequence homology and/or common motifs. (PubMed id 8506309)1, 2, 3, 9 Nakamura T.... Canaani E. (1993)
    2. HIV-1 Tat and host AFF4 recruit two transcription elo ngation factors into a bifunctional complex for coordinated activation of HIV-1 transcription. (PubMed id 20471948)1, 2 He N....Zhou Q. (2010)
    3. The ENL moiety of the childhood leukemia-associated MLL-ENL oncoprotein recruits human Polycomb 3. (PubMed id 11313972)1, 2 Garcia-Cuellar M.P.... Slany R.K. (2001)
    4. BCoR, a novel corepressor involved in BCL-6 repression. (PubMed id 10898795)1, 2 Huynh K.D.... Bardwell V.J. (2000)
    5. MLLT3 gene on 9p22 involved in t(9;11) leukemia encodes a serine/proline rich protein homologous to MLLT1 on 19p13. (PubMed id 8414510)1, 3 Iida S....Ueda R. (1993)
    6. Leukemia fusion target AF9 is an intrinsically disordered transcriptional regulator that recruits multiple partners via coupled folding and binding. (PubMed id 23260655)2 Leach B.I....Bushweller J.H. (2013)
    7. Immune response as a possible mechanism of long-lastin g disease control in spontaneous remission of MLL/AF9-positive acute myeloid leu kemia. (PubMed id 21959947)1 Muller-Schmah C....Lubbert M. (2012)
    8. The super elongation complex (SEC) family in transcriptional control. (PubMed id 22895430)2 Luo Z.... Shilatifard A. (2012)
    9. Sequential array comparative genomic hybridization ana lysis identifies copy number changes during blastic transformation of chronic my eloid leukemia. (PubMed id 22309891)1 Lee S.T....Kim S.H. (2012)
    10. An insertional mutagenesis screen identifies genes tha t cooperate with Mll-AF9 in a murine leukemogenesis model. (PubMed id 22427200)1 Bergerson R.J....Largaespada D.A. (2012)

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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 4300 HGNC: 7136 AceView: MLLT3 Ensembl:ENSG00000171843 euGenes: HUgn4300
    ECgene: MLLT3 H-InvDB: MLLT3

    (According to HUGE)
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
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    NameDescription
    PharmGKB entry for MLLT3 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for MLLT3 Genetics and Cytogenetics in Oncology and Haematology

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