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AFF1 Gene

protein-coding   GIFtS: 59
GCID: GC04P087856

AF4/FMR2 Family, Member 1

(Previous names: myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila)...)
(Previous symbols: PBM1, MLLT2)
  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)
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Aliases
AF4/FMR2 Family, Member 11 2     ALL1-Fused Gene From Chromosome 4 Protein2 3
MLLT21 2 3 5     Myeloid/Lymphoid Or Mixed-Lineage Leukemia (Trithorax (Drosophila)
Homolog); Translocated To, 21
PBM11 2 3     AF4/FMR2 Family Member 12
AF42 3 5     Myeloid/Lymphoid Or Mixed-Lineage Leukemia (Trithorax Homolog,
Drosophila); Translocated To, 22
Pre-B-Cell Monocytic Leukemia Partner 11 2     FEL3
Protein AF-42 3     Protein FEL3
Proto-Oncogene AF42 3     

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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for AFF1 Gene:
AFF1 (AF4/FMR2 family, member 1) is a protein-coding gene. Diseases associated with AFF1 include chronic neutrophilic leukemia, and precursor b-cell acute lymphoblastic leukemia. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity. An important paralog of this gene is AFF3.

Gene Wiki entry for AFF1 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000004.12  NT_016354.20  NC_018915.2  
Regulatory elements:
   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 Chromatin IP Primers for AFF1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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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)
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

Explore proteomics data for AFF1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See AFF1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

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

    ENSEMBL proteins: 
     ENSP00000427593   ENSP00000424483   ENSP00000425755   ENSP00000305689   ENSP00000424766  
     ENSP00000424881   ENSP00000378578   ENSP00000440843  

    AFF1 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
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    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate for AFF1
    OriGene Custom MassSpec
    OriGene Custom Protein Services for AFF1
    GenScript Custom Purified and Recombinant Proteins Services for AFF1
    Novus Biologicals AFF1 Protein
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for AFF1

    AFF1 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    Novus Biologicals AFF1 Antibodies
    Abcam antibodies for AFF1
    Cloud-Clone Corp. Antibodies for AFF1
    ThermoFisher Antibodies for AFF1
    LSBio Antibodies in human, mouse, rat for AFF1

    AFF1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for AFF1
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for AFF1
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for AFF1
    Cloud-Clone Corp. CLIAs for AFF1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR007797 TF_AF4/FMR2

    Graphical View of Domain Structure for InterPro Entry P51825

    ProtoNet protein and cluster: P51825

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

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


    AFF1 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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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         Gene Ontology (GO): 2 molecular function terms:    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


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

         9 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Aff1):
     behavior/neurological  growth/size/body  hematopoietic system  immune system  mortality/aging 
     nervous system  no phenotypic analysis  reproductive system  vision/eye 

    AFF1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for AFF1: Aff1tm1Afst Aff1tm1Cim

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for AFF1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for AFF1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for AFF1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for AFF1

    miRNA
    Products:
        
    miRTarBase miRNAs that target AFF1:
    hsa-mir-615-3p (MIRT039920), hsa-mir-877-5p (MIRT037336), hsa-mir-128b (MIRT006588)

    Block miRNA regulation of human, mouse, rat AFF1 using miScript Target Protectors
    Selected qRT-PCR 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
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for AFF1
    Predesigned siRNA for gene silencing in human, mouse, rat AFF1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for AFF1

    Clone
    Products:
         
    OriGene clones in human, mouse for AFF1 (see all 12)
    OriGene ORF clones in mouse, rat for AFF1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): AFF1 (NM_005935)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for AFF1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AFF1

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for AFF1
    Browse ESI BIO Cell Lines and PureStem Progenitors for AFF1 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AFF1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    AFF1_HUMAN, P51825: Nucleus (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus3
    cytosol2

    Gene Ontology (GO): 1 cellular component term:    About this table

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

    AFF1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for AFF1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Transcriptional misregulation in cancer
    Transcriptional misregulation in cancer

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1 Kegg Pathway  (Kegg details for AFF1):
        Transcriptional misregulation in cancer


    AFF1 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including AFF1: 
              Lymphoma in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for AFF1

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

    Selected 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): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0045893positive regulation of transcription, DNA-templated IEA--

    AFF1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for AFF1

    2 Novoseek inferred 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)



    AFF1 for compounds           About GeneDecksing



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    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
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat AFF1 using miScript Target Protectors
    Selected qRT-PCR 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
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for AFF1
    Predesigned siRNA for gene silencing in human, mouse, rat AFF1
    Clone
    Products:
         
    OriGene clones in human, mouse for AFF1 (see all 12)
    OriGene ORF clones in mouse, rat for AFF1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): AFF1 (NM_005935)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for AFF1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AFF1
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for AFF1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat AFF1
      QuantiTect SYBR Green Assays in human, mouse, rat AFF1
      QuantiFast Probe-based Assays in human, mouse, rat AFF1

    Additional mRNA 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 

    Selected AceView cDNA sequences (see all 280):

    AU119022 BU782668 CK903363 BU679210 BU170453 AI189392 AA312155 AI339616 
    BX498213 BM980910 BU732434 C02520 AI401199 AI638134 T59667 AW513962 
    BF431765 AI471121 BM980735 AI401650 T59801 AW058339 BU630914 BX504246 

    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    AFF1 expression in normal human tissues (normalized intensities)      AFF1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TATTTTACCT
    AFF1 Expression
    About this image


    AFF1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Cerebral Cortex
     
     Ovary (Reproductive System)
             Pre-Granulosa Cells Primordial Follicle
     
     Kidney (Urinary System)
             Metanephros
     
     Neural Tube (Nervous System)
             Telencephalon
     
     Dermis (Integumentary System)
    AFF1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    AFF1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.480190
        Pathway & Disease-focused RT2 Profiler PCR Array including AFF1: 
              Lymphoma in human mouse rat

    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for AFF1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat AFF1
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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)
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    This gene was present in the common ancestor of animals.

    Orthologs for AFF1 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Aff11 , 5 AF4/FMR2 family, member 11, 5 76.56(n)1
    71.68(a)1
      5 (50.45 cM)5
    173551  NM_133919.31  NP_598680.31 
     1036923745 
    chicken
    (Gallus gallus)
    Aves AFF11 AF4/FMR2 family, member 1 61.93(n)
    52.3(a)
      422590  XM_004941100.1  XP_004941157.1 
    lizard
    (Anolis carolinensis)
    Reptilia AFF16
    AF4/FMR2 family, member 1
    53(a)
    1 ↔ 1
    5(45148761-45236481)
    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
    Uncharacterized protein
    36(a)
    1 ↔ 1
    21(121013-124374) ENSDARG00000086044
    fruit fly
    (Drosophila melanogaster)
    Insecta lilli6
    lilliputian
    15(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)
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    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, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for AFF1 (see all 4430)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0361304
    A breast cancer sample4--see VAR_0361302 Q K mis40--------
    rs341052591,2
    C--87778938(+) GGGGG-/GGACAAC 2 -- int11Minor allele frequency- GG:0.00NA 2
    rs1394287941,2
    --87858154(+) GAGATC/TGAAGA 1 -- int10--------
    rs1441357811,2
    --87858241(+) GCTGGA/GGATGT 1 -- int10--------
    rs2018763731,2
    --87858297(+) AAGAA-/AATG  
            
    AACTG
    1 -- int10--------
    rs1913670141,2
    --87858318(+) TTAATC/GTGCCT 1 -- int10--------
    rs1857180921,2
    --87858388(+) AAACTA/GTAATT 1 -- int10--------
    rs1488756481,2
    C--87858405(+) AATCAC/TAGTGT 1 -- int10--------
    rs1906287881,2
    --87858429(+) ACAAAG/TATCAT 1 -- int10--------
    rs1819313031,2
    --87858491(+) TCTCCA/TACATG 1 -- int10--------

    HapMap Linkage Disequilibrium report for AFF1 (87856154 - 88062206 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for AFF1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2727935CNV Deletion23290073
    esv1030392CNV Deletion17803354
    esv1008659CNV Deletion20482838
    esv2663810CNV Deletion23128226
    nsv507181CNV Insertion20534489
    nsv291773CNV Loss16902084
    nsv508297CNV Loss20534489
    nsv879525CNV Gain21882294

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers 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, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    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 KMT2A/MLL1. The result is a rogue activator protein

  • 19 diseases for AFF1:    About MalaCards
    chronic neutrophilic leukemia    precursor b-cell acute lymphoblastic leukemia    monocytic leukemia    eaf
    acute leukemia    lymphoblastic leukemia    leukemia    intellectual disability
    coronary artery disease    chronic lymphocytic leukemia    breast and colorectal cancer    systemic lupus erythematosus
    lupus erythematosus    hiv-1    alzheimer's disease    colorectal cancer
    multiple myeloma    myeloma    cerebritis

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

    AFF1 for disorders           About GeneDecksing

    6 Novoseek inferred 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)

    Genetic Association Database (GAD): AFF1
    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)
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    PubMed articles for AFF1 gene, integrated from 10 sources (see all 115):
    (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. (Cell 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. (Blood 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. (Proc. Natl. Acad. Sci. U.S.A. 1993)
    4. Leukemia fusion target AF9 is an intrinsically disordered transcriptional regulator that recruits multiple partners via coupled folding and binding. (PubMed id 23260655)1, 2 Leach B.I....Bushweller J.H. (Structure 2013)
    5. A genome-wide association study identified AFF1 as a susceptibility locus for systemic lupus eyrthematosus in Japanese. (PubMed id 22291604)1, 4 Okada Y....Yamamoto K. (PLoS Genet. 2012)
    6. Genetic variants influencing circulating lipid levels and risk of coronary artery disease. (PubMed id 20864672)1, 4 Waterworth D.M....Sandhu M.S. (Arterioscler. Thromb. Vasc. Biol. 2010)
    7. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    8. Biological, clinical and population relevance of 95 loci for blood lipids. (PubMed id 20686565)1, 4 Teslovich T.M....Kathiresan S. (Nature 2010)
    9. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    10. 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. (Proc. Natl. Acad. Sci. U.S.A. 1993)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    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)
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    Entrez Gene: 4299 HGNC: 7135 AceView: MLLT2 Ensembl:ENSG00000172493 euGenes: HUgn4299
    ECgene: AFF1 Kegg: 4299 H-InvDB: AFF1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for AFF1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for AFF1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for AFF1 gene:
    Search GeneIP for patents involving AFF1

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



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