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

AFF1 Gene

protein-coding   GIFtS: 55
GCID: GC04P087856

AF4/FMR2 family, member 1

(Previous names: myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila)...)
(Previous symbols: PBM1, MLLT2)
 Explore 11 diseases affiliated with
AFF1 via our new
 Human Malady Compendium 
Biological research products
for AFF1
    

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

Aliases
AF4/FMR2 Family, Member 11 2     ALL1-Fused Gene From Chromosome 4 Protein2 3
AF41 2 3 5     AF-41
MLLT21 2 3 5     Myeloid/Lymphoid Or Mixed-Lineage Leukemia (Trithorax (Drosophila) Homolog);
Translocated To, 21
PBM11 2 3     AF4/FMR2 Family Member 12
Pre-B-Cell Monocytic Leukemia Partner 11 2     Myeloid/Lymphoid Or Mixed-Lineage Leukemia (Trithorax Homolog, Drosophila);
Translocated To, 22
Protein AF-42 3     FEL3
Proto-Oncogene AF42 3     Protein FEL3

External Ids:    HGNC: 71351   Entrez Gene: 42992   Ensembl: ENSG000001724937   OMIM: 1595575   UniProtKB: P518253   

Export aliases for AFF1 gene to outside databases

Previous GC identifers: GC04P088214 GC04P088075 GC04P083600


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

Gene Wiki entry for AFF1


(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_000004.11  NC_018915.1  NT_016354.19  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the AFF1 gene promoter:
         AML1a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): AFF1 promoter sequence
   Search SABiosciences Chromatin IP Primers for AFF1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat AFF1


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

Entrez Gene cytogenetic band: 4q21   Ensembl cytogenetic band:  4q21.3   HGNC cytogenetic band: 4q21.3

AFF1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
AFF1 gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04P087856:  view genomic region     (about GC identifiers)

Start:
87,856,154 bp from pter      End:
88,062,206 bp from pter
Size:
206,053 bases      Orientation:
plus 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: AFF1_HUMAN, P51825 (See protein sequence)
Recommended Name: AF4/FMR2 family member 1  
Size: 1210 amino acids; 131422 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)
Subcellular location: Nucleus (Potential)
Sequence caution: Sequence=AAA36642.1; Type=Frameshift; Positions=897, 905, 1178;
1 PDB 3D structure from and Proteopedia for AFF1:
2LM0 (3D)    
Secondary accessions: B4DTU1 E9PBM3
Alternative splicing: 3 isoforms:  P51825-1   P51825-2   P51825-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for AFF1: NX_P51825

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P51825

  • AFF1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_001160165.1  NP_005926.1  

    ENSEMBL proteins: 
     ENSP00000427593   ENSP00000424483   ENSP00000425755   ENSP00000305689   ENSP00000424766  
     ENSP00000424881   ENSP00000378578   ENSP00000440843  

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    Novus Biologicals AFF1 Protein
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    Browse ProSpec Recombinant Proteins
    Uscn Proteins for AFF1

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

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


    AFF1 for ontologies           About GeneDecksing



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

    AFF1 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR007797 TF_AF4/FMR2

    Graphical View of Domain Structure for InterPro Entry P51825

    ProtoNet protein and cluster: P51825

    1 Blocks protein family: IPB007797 AF-4 proto-oncoprotein

    UniProtKB/Swiss-Prot: AFF1_HUMAN, P51825
    Similarity: Belongs to the AF4 family


    (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

    miRNA
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    miRTarBase miRNAs that target AFF1:
    hsa-mir-128 (MIRT004416)

    OriGene 3'-UTR Clone: AFF1
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    8/98 QIAGEN miScript miRNA Assays for microRNAs that regulate AFF1 (see all 98):
    hsa-miR-300 hsa-miR-106a hsa-miR-218-1* hsa-miR-200a hsa-miR-4305 hsa-miR-374a hsa-miR-3653 hsa-miR-3138
    Browse SwitchGear 3'UTR luciferase reporter plasmids
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    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003700sequence-specific DNA binding transcription factor activity TAS7689231
    GO:0005515protein binding IPI--


    AFF1 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for AFF1:
     Increased gamma-H2AX phosphory 

    Animal Models:
         Mouse knock-outs for AFF1: Aff1tm1Afst Aff1tm1Cim
         10 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Aff1):
     behavior/neurological  cellular  growth/size  hematopoietic system  immune system 
     mortality/aging  nervous system  no phenotypic analysis  reproductive system  vision/eye 

    AFF1 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:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for AFF1

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

    5/32 Interacting proteins for AFF1 (P518251, 2, 3 ENSP000003056894) via UniProtKB, MINT, STRING, and/or I2D (see all 32)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SMAD9O151982, 3, ENSP000003691544MINT-62122 I2D: score=3 STRING: ENSP00000369154
    CCNT1O605633, ENSP000002619004I2D: score=2 STRING: ENSP00000261900
    MLLT3P425683, ENSP000003696954I2D: score=2 STRING: ENSP00000369695
    BRD4O608853, ENSP000002633774I2D: score=1 STRING: ENSP00000263377
    DOT1LQ8TEK33, ENSP000003816574I2D: score=1 STRING: ENSP00000381657
    About this table

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006355regulation of transcription, DNA-dependent TAS7689231
    GO:0045893positive regulation of transcription, DNA-dependent ----


    AFF1 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

    AFF1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for AFF1
    2 Novoseek chemical compound relationships for AFF1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    af 10 75.4 2 15856011 (1), 16511515 (1)
    probenecid 44.2 1 9233580 (1)

    Search CenterWatch for drugs/clinical trials and news about AFF1 

    (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 AFF1 gene (2 alternative transcripts): 
    NM_001166693.1  NM_005935.2  

    Unigene Cluster for AFF1:

    AF4/FMR2 family, member 1
    Hs.480190  [show with all ESTs]
    Unigene Representative Sequence: L13773
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000504956(uc011ccx.2) ENST00000507468 ENST00000503477 ENST00000511996
    ENST00000511442(uc003hqi.1) ENST00000307808(uc003hqj.4 uc003hqk.4 uc011cda.2)
    ENST00000511722 ENST00000514970 ENST00000503369 ENST00000395146(uc003hqh.2 uc011ccy.2 uc011ccz.2)
    ENST00000544085

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    hsa-miR-300 hsa-miR-106a hsa-miR-218-1* hsa-miR-200a hsa-miR-4305 hsa-miR-374a hsa-miR-3653 hsa-miR-3138
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    Additional cDNA sequence: 

    AF024541.1 AF177236.1 AF177237.1 AF177238.1 AF177239.1 AF492831.1 AK296149.1 AK296243.1 
    AK300364.1 BC017432.1 BC114930.1 DQ451148.1 L13743.1 L13773.1 L25050.1 

    20 DOTS entries:

    DT.320060  DT.121271684  DT.95106539  DT.40217563  DT.121271853  DT.121271770  DT.207714  DT.101985638 
    DT.95156841  DT.121271831  DT.75188384  DT.95295713  DT.100734271  DT.121271747  DT.91874814  DT.95106675 
    DT.95110406  DT.121271880  DT.91650693  DT.95106485 

    24/280 AceView cDNA sequences (see all 280):

    AI075843 BU428544 AW024718 CA446251 BM712463 BU170453 BU783660 BU782668 
    BF431765 AI424329 AI189392 F02274 AA889859 AA661744 AI339616 AI471121 
    AA701548 BU621800 AA483790 AW303894 BU630914 AW513962 AA256867 AI401199 

    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

    AFF1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TATTTTACCT

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

    About this image

    AFF1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    Stem Cell Differentiation: 2 LifeMap Cells 
    NameCategory
    Blimp1- mVenus and stella-ECFP genetically modified stem cells (Embryonic Stem Cell)Early Embryo, Inner Cell Mass
    Definitive endoderm-like cells (A scalable, suspensi...)
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See AFF1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for AFF1

    SOURCE GeneReport for Unigene cluster: Hs.480190
        SABiosciences Expression via Pathway-Focused PCR Array including AFF1: 
              Lymphoma in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AFF1

    (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 AFF1 gene from 5/17 species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves AFF11 AF4/FMR2 family, member 1 63.21(n)
    53.36(a)
      422590  XM_420549.3  XP_420549.3 
    lizard
    (Anolis carolinensis)
    Reptilia AFF16
    --
    52(a)
    1 ↔ 1
    5(45148761-45234956)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.326722 Xenopus laevis transcribed sequence with weak similarity more 75.21(n)    BJ639482.1 
    zebrafish
    (Danio rerio)
    Actinopterygii CABZ01072037.16
    --
    29(a)
    1 ↔ 1
    21(121013-124374)
    fruit fly
    (Drosophila melanogaster)
    Insecta lilli6
    lilliputian
    12(a)
    1 → many
    2L(2885929-2954406)


    ENSEMBL Gene Tree for AFF1 (if available)
    TreeFam Gene Tree for AFF1 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for AFF1 gene
    AFF32  AFF22  AFF42  
    4 SIMAP similar genes for AFF1 using alignment to 9 protein entries:     AFF1_HUMAN (see all proteins):
    AF-4    MLL/AF4 fusion    AFF3    AFF4

    AFF1 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

    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for AFF1
         1 CNV: 6290
         1 Indel: 27735
    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing AFF1
    DNA2.0 Custom Variant and Variant Library Synthesis for AFF1

    (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

    AFF1 for disorders           About GeneDecksing

    OMIM gene information: 159557    OMIM disorders: --

    UniProtKB/Swiss-Prot: AFF1_HUMAN, P51825
  • Note=A chromosomal aberration involving AFF1 is associated with acute leukemias. Translocation
  • t(4;11)(q21;q23) with MLL/HRX. The result is a rogue activator protein

    11 diseases for AFF1:    About MalaCards
    monocytic leukemia    leukemia    dna topoisomerase ii    chronic neutrophilic leukemia
    lymphoblastic leukemia    intellectual disability    acute lymphoblastic leukemia    chronic lymphocytic leukemia
    eaf    lymphocytic leukemia    acute leukemia

    1 disease from the University of Copenhagen DISEASES database for AFF1:
    Leukemia

    6 Novoseek disease relationships for AFF1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    lymphoblastic leukemia acute 77.2 10 11719380 (1), 11493704 (1), 12433702 (1), 15221006 (1) (see all 9)
    acute leukemia 74.6 6 8353274 (1), 7698025 (1), 11527155 (1), 8378328 (1) (see all 6)
    leukemogenesis 69.5 6 9737688 (2), 9808577 (1), 9365243 (1)
    leukemia 69.1 21 9808577 (2), 9737688 (2), 9403001 (2), 19340490 (1) (see all 15)
    chromosomal aberrations 40.4 1 8506309 (1)
    tumors 4.37 2 8378328 (1)

    Human Genome Epidemiology (HuGE) Navigator: AFF1 (5 documents)

    Export disorders for AFF1 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 AFF1 gene, integrated from 9 sources (see all 106):
    (articles sorted by number of sources associating them with AFF1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The t(4;11) chromosome translocation of human acute leukemias fuses the ALL-1 gene, related to Drosophila trithorax, to the AF-4 gene. (PubMed id 1423625)1, 2, 3, 9 Gu Y.... Canaani E. (1992)
    2. The chromosome 4q21 gene (AF-4/FEL) is widely expressed in normal tissues and shows breakpoint diversity in t(4;11)(q21;q23) acute leukemia. (PubMed id 8353274)1, 3, 9 Chen C.S....Kersey J.H. (1993)
    3. 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, 9 Nakamura T.... Canaani E. (1993)
    4. Acute mixed-lineage leukemia t(4;11)(q21;q23) generates an MLL-AF4 fusion product. (PubMed id 7689231)1, 3 Domer P.H....Korsmeyer S.J. (1993)
    5. A serine/proline-rich protein is fused to HRX in t(4;11) acute leukemias. (PubMed id 8443374)1, 2 Morrissey J....Cleary M.L. (1993)
    6. Duplicated regions of AF-4 intron 4 at t(4;11) translocation breakpoints. (PubMed id 10671636)1, 9 Felix C.A....Rappaport E.F. (1999)
    7. Exon/intron structure of the human AF-4 gene, a member of the AF- 4/LAF-4/FMR-2 gene family coding for a nuclear protein with structural alterations in acute leukaemia. (PubMed id 9233580)1, 9 Nilson I.... Marschalek R. (1997)
    8. Simultaneous localization of MLL, AF4 and ENL genes in interphase nuclei by 3D-FISH: MLL translocation revisited. (PubMed id 16433901)1, 9 Gue M....Boudier T. (2006)
    9. Interaction of AF4 wild-type and AF4.MLL fusion protein with SIAH proteins: indication for t(4;11) pathobiology? (PubMed id 15221006)1, 9 Bursen A....Marschalek R. (2004)
    10. Molecular characterization of a rare MLL-AF4 (MLL-AFF1) fusion rearrangement in infant leukemia. (PubMed id 17889710)1, 9 Bizarro S....Teixeira M.R. (2007)

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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 4299 HGNC: 7135 AceView: MLLT2 Ensembl:ENSG00000172493 euGenes: HUgn4299
    ECgene: AFF1 H-InvDB: AFF1

    (According to HUGE)
    About This Section
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
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    About This Section
    NameDescription
    PharmGKB entry for AFF1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for AFF1 Genetics and Cytogenetics in Oncology and Haematology

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