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

CD3EAP Gene

protein-coding   GIFtS: 51
GCID: GC19P045909

CD3e molecule, epsilon associated protein

(Previous names: CD3e antigen, epsilon polypeptide associated protein )
 Explore 8 diseases affiliated with
CD3EAP via our new
 Human Malady Compendium 
Biological research products
for CD3EAP
    

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

Aliases
CD3e Molecule, Epsilon Associated Protein1 2     A34.52 3
PAF491 2 3 5     CD3-Epsilon-Associated Protein2 3
ASE-11 2 3     CD3E-Associated Protein2 3
CAST1 2 3     RNA Polymerase I-Associated Factor PAF492 3
ASE12 3 5     Antisense To ERCC 12
CD3e Antigen, Epsilon Polypeptide Associated Protein1 2     CD3 Epsilon Associated Protein2
Antisense To ERCC-1 Protein2 3     DNA-Directed RNA Polymerase I Subunit RPA342

External Ids:    HGNC: 242191   Entrez Gene: 108492   Ensembl: ENSG000001178777   OMIM: 1073255   UniProtKB: O154463   

Export aliases for CD3EAP gene to outside databases

Previous GC identifers: GC19P050602 GC19P042339


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

UniProtKB/Swiss-Prot: RPA34_HUMAN, O15446
Function: DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside
triphosphates as substrates. Component of RNA polymerase I which synthesizes ribosomal RNA precursors. Isoform 1 is
involved in UBTF-activated transcription, presumably at a step following PIC formation
Function: Isoform 2 has been described as a component of preformed T-cell receptor (TCR) complex

Gene Wiki entry for CD3EAP


(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_000019.9  NC_018930.1  NT_011109.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CD3EAP gene promoter:
         E2F-4   E2F-3a   E2F-5   E2F-1   E2F   p53   Bach2   E2F-2   AP-2alpha   AP-2alphaA   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCD3EAP promoter sequence
   Search SABiosciences Chromatin IP Primers for CD3EAP

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CD3EAP


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

Entrez Gene cytogenetic band: 19q13.3   Ensembl cytogenetic band:  19q13.32   HGNC cytogenetic band: 19q13.3

CD3EAP Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CD3EAP gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19P045909:  view genomic region     (about GC identifiers)

Start:
45,909,467 bp from pter      End:
45,914,024 bp from pter
Size:
4,558 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: RPA34_HUMAN, O15446 (See protein sequence)
Recommended Name: DNA-directed RNA polymerase I subunit RPA34  
Size: 510 amino acids; 54986 Da
Subunit: Component of the RNA polymerase I (Pol I) complex consisting of at least 13 subunits. Interacts with TAF1A
thereby associates with the SL1 complex. Interacts with UBTF. Interacts with POLR1E/PRAF1 through its N-terminal
region (By similarity). Isoform 2 interacts with CD3E
Subcellular location: Nucleus, nucleolus. Chromosome. Note=Found at the fibrillar centers of the nucleolus in
interphase and during cell division it is localized to the nucleolus organizer regions of the chromosomes
Miscellaneous: It is in an antisense orientation to and overlaps the gene of the DNA repair enzyme ERCC1. This gene
overlap is conserved in mouse suggesting an important biologic function
Caution: It is not known whether the so-called human ASE1 and human CAST proteins represent two sides of a single gene
product with sharply different functional characteristics. Experiments done with the mouse homolog protein are in
favor of an implication of this gene in rRNA transcription instead of T-cell receptor signaling
Secondary accessions: Q32N11 Q7Z5U2 Q9UPF6
Alternative splicing: 2 isoforms:  O15446-1   O15446-2   (No experimental confirmation available. Has sharply different functional characteristics)

Explore the universe of human proteins at neXtProt for CD3EAP: NX_O15446

Post-translational modifications:

  • Isoform 2 undergoes tyrosine phosphorylation upon T-cell receptor (TCR) stimulation. This phosphorylation has not been
  • confirmed by other group1
  • Isoform 1 is phosphorylated on tyrosine residues in initiation-competent Pol I-beta complexes but not in Pol I-alpha
  • complexes1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_O15446

  • CD3EAP Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_036231.1  
    ENSEMBL proteins: 
     ENSP00000310966   ENSP00000467771   ENSP00000465099   ENSP00000466503  

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    Uscn Proteins for CD3EAP

    Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000120RNA polymerase I transcription factor complex TAS9426281
    GO:0005634nucleus IDA--
    GO:0005694chromosome IEA--
    GO:0005730nucleolus IDA--
    GO:0005736DNA-directed RNA polymerase I complex IEA--


    CD3EAP 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

    CD3EAP for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR013240 DNA-dir_RNA_pol1_su_RPA34

    Graphical View of Domain Structure for InterPro Entry O15446

    ProtoNet protein and cluster: O15446

    UniProtKB/Swiss-Prot: RPA34_HUMAN, O15446
    Similarity: Belongs to the eukaryotic RPA34 RNA polymerase subunit 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

    Function Summary:

         UniProtKB/Swiss-Prot: RPA34_HUMAN, O15446
    Function: DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside
    triphosphates as substrates. Component of RNA polymerase I which synthesizes ribosomal RNA precursors. Isoform 1 is
    involved in UBTF-activated transcription, presumably at a step following PIC formation
    Function: Isoform 2 has been described as a component of preformed T-cell receptor (TCR) complex

    miRNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CD3EAP

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003899DNA-directed RNA polymerase activity IEA--
    GO:0005515protein binding ----


    CD3EAP for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for CD3EAP:
     Synthetic lethal with Ras 


    (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

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1TNF-alpha/NF-kB Signaling Pathway
    TNF-alpha/NF-kB Signaling Pathway1.00


    1 BioSystems Pathway for CD3EAP 
        TNF-alpha/NF-kB Signaling Pathway


    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for CD3EAP

    STRING Interaction Network Preview (showing 5 interactants - click image to see 18)

    5/25 Interacting proteins for CD3EAP (O154462, 3 ENSP000003109664) via UniProtKB, MINT, STRING, and/or I2D (see all 25)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SSRP1Q089452, 3, ENSP000002784124MINT-7264825 MINT-7264906 MINT-7264943 I2D: score=1 STRING: ENSP00000278412
    POLR1EQ9GZS12, 3, ENSP000003670294MINT-7264825 I2D: score=2 STRING: ENSP00000367029
    POLR1DQ9Y2S02, 3, ENSP000003024784MINT-7264825 I2D: score=1 STRING: ENSP00000302478
    NFKBIBQ156532, 3MINT-47849 I2D: score=3 
    SUPT16HQ9Y5B92, 3, ENSP000002162974MINT-7264825 MINT-7264906 MINT-7264892 I2D: score=1 STRING: ENSP00000216297
    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:0007169transmembrane receptor protein tyrosine kinase signaling pathway TAS10373416
    GO:0009303rRNA transcription IEA--


    CD3EAP 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

    CD3EAP for compounds           About GeneDecksing

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

    Browse Tocris compounds for CD3EAP
    1 PharmGKB related drug/compound annotation for CD3EAP gene
    Drug/compound PharmGKB Annotation
    Platinum compoundsCA  
    About this table

    Search CenterWatch for drugs/clinical trials and news about CD3EAP / RPA34 

    (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 CD3EAP gene: 
    NM_012099.1  

    Unigene Cluster for CD3EAP:

    CD3e molecule, epsilon associated protein
    Hs.710495  [show with all ESTs]
    Unigene Representative Sequence: NM_012099
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000309424(uc002pbq.1 uc002pbr.1) ENST00000592852 ENST00000589804
    ENST00000590794

    miRNA
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    Inhib. RNA
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    Additional cDNA sequence: 

    AF017633.1 AK292183.1 BC009705.1 BC028109.1 BC038992.1 BC046141.1 BC054044.1 BC065251.1 
    BC108889.2 U86751.1 

    6 DOTS entries:

    DT.101981645  DT.453132  DT.99949247  DT.91686145  DT.91686496  DT.121483504 

    24/64 AceView cDNA sequences (see all 64):

    BC065251 NM_012099 CA442565 U86751 BU166593 AA155591 CD624201 CA424029 
    AA155606 BC054044 BE796555 BC009705 BX117092 BQ212106 AF017633 CD624203 
    BC046141 BQ423643 AI952716 BM472060 BP348303 BM460317 BP353561 BQ924170 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for CD3EAP    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3a · 3b
    SP1:                              
    SP2:                              


    ECgene alternative splicing isoforms for CD3EAP

    (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

    CD3EAP expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GCGCCTCAAC

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

    About this image
    See CD3EAP Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CD3EAP

    SOURCE GeneReport for Unigene cluster: Hs.710495
        SABiosciences Custom PCR Arrays for CD3EAP
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CD3EAP

    (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 chordates.

    Orthologs for CD3EAP gene from 2/10 species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cd3eap1 , 5 CD3E antigen, epsilon polypeptide associated protein1, 5 70.31(n)1
    59.29(a)1
      7 (9.62 cM)5
    703331  NM_145822.21  NP_665821.11 
     193568495 
    zebrafish
    (Danio rerio)
    Actinopterygii BX950186.26
    --
    27(a)
    1 ↔ 1
    15(28136057-28150971)


    ENSEMBL Gene Tree for CD3EAP (if available)
    TreeFam Gene Tree for CD3EAP (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, 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

    Human Gene Mutation Database (HGMD): CD3EAP
    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CD3EAP
    DNA2.0 Custom Variant and Variant Library Synthesis for CD3EAP

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

    CD3EAP for disorders           About GeneDecksing

    OMIM gene information: 107325    OMIM disorders: --

    8 diseases for CD3EAP:    About MalaCards
    basal cell carcinoma    multiple myeloma    myeloma    colorectal cancer
    lung cancer    adenoma    carcinoma    alcoholism

    Genetic Association Database (GAD): CD3EAP
    Human Genome Epidemiology (HuGE) Navigator: CD3EAP (10 documents)

    Export disorders for CD3EAP 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 CD3EAP gene, integrated from 9 sources (see all 37):
    (articles sorted by number of sources associating them with CD3EAP)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. CAST, a novel CD3epsilon-binding protein transducing activation signal for interleukin-2 production in T cells. (PubMed id 10373416)1, 2, 3 Yamazaki T....Saito T. (1999)
    2. ASE-1: a novel protein of the fibrillar centres of the nucleolus and nucleolus organizer region of mitotic chromosomes. (PubMed id 9426281)1, 2, 3 Whitehead C.M.... Rattner J.B. (1997)
    3. Multiple protein-protein interactions by RNA polymerase I-associated factor PAF49 and role of PAF49 in rRNA transcription. (PubMed id 15226435)1, 3, 9 Yamamoto K....Muramatsu M. (2004)
    4. RNA polymerase I-specific subunit CAST/hPAF49 has a role in the activation of transcription by upstream binding factor. (PubMed id 16809778)1, 2 Panov K.I....Zomerdijk J.C.B.M. (2006)
    5. Effect of polymorphisms in XPD, RAI, ASE-1 and ERCC1 on the risk of basal cell carcinoma among Caucasians after age 50. (PubMed id 15936590)1, 4 Vogel U....Nexo B.A. (2005)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    7. Association of a single nucleotide polymorphic variation in the human chromosome 19q13.3 with drug responses in the NCI60 cell lines. (PubMed id 19396015)1, 9 Nissen K.K.... B.A. (2009)
    8. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
    9. A specific diplotype defined by PPP1R13L rs1970764, CD 3EAP rs967591 and ERCC1 rs11615 and lung cancer risk in a Chinese population. (PubMed id 22335888)1 Yin J....Li X. (2012)
    10. Proliferating cell nuclear antigen (PCNA)-associated KIAA0101/PAF15 protein is a cell cycle-regulated anaphase-promoting complex/cyc losome substrate. (PubMed id 21628590)1 Emanuele M.J....Elledge S.J. (2011)

    (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: 10849 HGNC: 24219 AceView: ASE-1 Ensembl:ENSG00000117877 euGenes: HUgn10849
    ECgene: CD3EAP H-InvDB: CD3EAP

    (According to HUGE)
    About This Section
      --

    (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 CD3EAP 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 CD3EAP gene:
    Search GeneIP for patents involving CD3EAP

    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, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, 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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    GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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