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

THSD7A Gene

protein-coding   GIFtS: 49
GCID: GC07M011381

Thrombospondin, Type I, Domain Containing 7A

  See related disease
at  

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

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Thrombospondin, Type I, Domain Containing 7A1 2
KIAA09603 5
Thrombospondin Type-1 Domain-Containing Protein 7A2

External Ids:    HGNC: 222071   Entrez Gene: 2219812   Ensembl: ENSG000000051087   OMIM: 6122495   UniProtKB: Q9UPZ63   
ORGUL members:         
NONCODE14:n341186      

Export aliases for THSD7A gene to outside databases

Previous GC identifer: GC07M011268


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

Entrez Gene summary for THSD7A Gene:
The protein encoded by this gene is found almost exclusively in endothelial cells from placenta and umbilical
cord. The encoded protein appears to interact with alpha(V)beta(3) integrin and paxillin to inhibit endothelial
cell migration and tube formation. This protein may be involved in cytoskeletal organization. Variations in this
gene may be associated with low bone mineral density in osteoporosis. (provided by RefSeq, Aug 2010)

GeneCards Summary for THSD7A Gene: 
THSD7A (thrombospondin, type I, domain containing 7A) is a protein-coding gene, and is affiliated with the lncRNA class. Diseases associated with THSD7A include endotheliitis. An important paralog of this gene is THSD7B.

UniProtKB/Swiss-Prot: THS7A_HUMAN, Q9UPZ6
Function: The soluble form promotes endothelial cell migration and filopodia formationduring angiogenesis via a
FAK-dependent mechanism




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000007.13  NC_018918.2  NT_007819.17  NT_079592.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the THSD7A gene promoter:
         STAT5B   AML1a   STAT6   XBP-1   AREB6   POU2F1   POU2F1a   IRF-7A   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for THSD7A

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat THSD7A


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

Entrez Gene cytogenetic band: 7p21.3   Ensembl cytogenetic band:  7p21.3   HGNC cytogenetic band: 7p21.3

THSD7A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
THSD7A gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07M011381:  view genomic region     (about GC identifiers)

Start:
11,410,062 bp from pter      End:
11,871,824 bp from pter
Size:
461,763 bases      Orientation:
minus strand

1 alternative location:
Chr7-,CRA_TCAG 11,463,461-11,925,090     

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

UniProtKB/Swiss-Prot: THS7A_HUMAN, Q9UPZ6 (See protein sequence)
Recommended Name: Thrombospondin type-1 domain-containing protein 7A precursor  
Size: 1657 amino acids; 185363 Da
Subcellular location: Cell membrane; Single-pass type I membrane protein. Secreted

Explore the universe of human proteins at neXtProt for THSD7A: NX_Q9UPZ6

Explore proteomics data for THSD7A at MOPED 

Post-translational modifications:

  • UniProtKB: Proteolytic cleavage in the extracellular region generates a 210 kDa soluble form
  • UniProtKB: Extensively N-glycosylated
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9UPZ6

  • THSD7A Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    THSD7A Protein Expression
    REFSEQ proteins: NP_056019.1  
    ENSEMBL proteins: 
     ENSP00000406482  

    Human Recombinant Protein Products for THSD7A: 
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    Cloud-Clone Corp. Proteins for THSD7A 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region IEA--
    GO:0005886plasma membrane IEA--
    GO:0016021integral to membrane IEA--

    THSD7A for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    1 InterPro protein domain:
     IPR000884 Thrombospondin_1_rpt

    Graphical View of Domain Structure for InterPro Entry Q9UPZ6

    ProtoNet protein and cluster: Q9UPZ6

    UniProtKB/Swiss-Prot: THS7A_HUMAN, Q9UPZ6
    Similarity: Contains 15 TSP type-1 domains


    THSD7A for domains           About GeneDecksing


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

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: THS7A_HUMAN, Q9UPZ6
    Function: The soluble form promotes endothelial cell migration and filopodia formationduring angiogenesis via a
    FAK-dependent mechanism

    Animal Models:

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



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for THSD7A

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    4 Interacting proteins for THSD7A (Q9UPZ62, 3 ENSP000004064824) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SKILP127572, 3MINT-61682 I2D: score=2 
    ASAP2O431503, ENSP000002814194I2D: score=1 STRING: ENSP00000281419
    RANBP10ENSP000003165894STRING: ENSP00000316589
    REG3AENSP000003043114STRING: ENSP00000304311
    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:0001525angiogenesis IEA--
    GO:0030154cell differentiation IEA--

    THSD7A for ontologies           About GeneDecksing



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

    Browse Tocris compounds for THSD7A (THS7A)

    Search CenterWatch for drugs/clinical trials and news about THSD7A / THS7A

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

    REFSEQ mRNAs for THSD7A gene: 
    NM_015204.2  

    Unigene Cluster for THSD7A:

    Thrombospondin, type I, domain containing 7A
    Hs.120855  [show with all ESTs]
    Unigene Representative Sequence: NM_015204
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000408005 ENST00000423059(uc003ssd.4 uc021zzn.1 uc021zzo.1)
    ENST00000497575 ENST00000480061
    miRNA
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    Additional mRNA sequence: 

    AB023177.2 AK001884.1 AK092252.1 BC016980.2 BC030083.1 

    5 DOTS entries:

    DT.91945354  DT.85100740  DT.97836225  DT.91923370  DT.439769 

    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

    THSD7A expression in normal human tissues (normalized intensities)      THSD7A embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGAAGATGTA
    THSD7A Expression
    About this image


    THSD7A expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/13 selected tissues (see all 13) fully expand
     
     Brain (Nervous System)    fully expand to see all 11 entries
             Medulla Oblongata
             superior temporal gyrus   
     
     Neural Tube (Nervous System)    fully expand to see all 6 entries
             Telencephalon
             brain/midbrain/lateral wall   
     
     Kidney (Urinary System)    fully expand to see all 2 entries
             Podocytes Podocyte Layer
             visceral organ/metanephros/calyx   
     
     Eye (Sensory Organs)    fully expand to see all 2 entries
             Mature Horizontal Cells Inner Nuclear Layer
             Retina
     
     Peripheral Nervous System (Nervous System)
             spinal/ganglion/dorsal root ganglion   

    See THSD7A Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for THSD7A

    SOURCE GeneReport for Unigene cluster: Hs.120855
        SABiosciences Custom PCR Arrays for THSD7A
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    In Situ
    Assay Products:
     

     
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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 THSD7A gene from 5/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Thsd7a1 , 5 thrombospondin, type I, domain containing 7A1, 5 86.61(n)1
    91.25(a)1
      6 (5.31 cM)5
    3302671  NM_001164805.11  NP_001158277.11 
     123170875 
    chicken
    (Gallus gallus)
    Aves THSD7A1 thrombospondin, type I, domain containing 7A 78.22(n)
    83.25(a)
      420585  XM_418686.2  XP_418686.2 
    lizard
    (Anolis carolinensis)
    Reptilia --
    THSD7A6
    thrombospondin, type I, domain containing 7A
    8(a)
    78(a)
    possible ortholog
    1 ↔ 1
    1(62669268-62691209)
    6(25222845-25549529)
    zebrafish
    (Danio rerio)
    Actinopterygii thsd7a1 thrombospondin, type I, domain containing 7A 66.77(n)
    70.76(a)
      557991  NM_001122760.1  NP_001116232.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta mspo6
    M-spondin
    9(a)
    1 → many
    2R(10559458-10601127)


    ENSEMBL Gene Tree for THSD7A (if available)
    TreeFam Gene Tree for THSD7A (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for THSD7A gene
    THSD7B2  
    1 SIMAP similar gene for THSD7A using alignment to 1 protein entry:     THS7A_HUMAN:
    THSD7B

    THSD7A 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) 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

    10/11166 SNPs in THSD7A are shown (see all 11166)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs17178661,2
    C--11320741(-) accccG/Atctct 1 -- int11Minor allele frequency- A:0.50NA 2
    rs1489433041,2
    --11385457(+) AGCTAC/TTTCAG 1 -- ds50010--------
    rs1151676841,2
    F--11385488(+) TACCCC/TGGAAG 1 -- ds50011Minor allele frequency- T:0.01WA 118
    rs1848977341,2
    --11385559(+) ACTTTC/TAGGTT 1 -- ds50010--------
    rs1436625951,2
    --11385640(+) AAGCTA/GTACTC 1 -- ds50010--------
    rs576038521,2
    --11385798(+) TTATAC/TAACCC 1 -- ds50010--------
    rs1417991821,2
    --11385811(+) GAAAGA/GGCAAT 1 -- ds50010--------
    rs736759811,2
    C,F--11385826(+) TAGGTG/AAAAGG 1 -- ds50011Minor allele frequency- A:0.50WA 2
    rs1146123801,2
    C--11386072(+) TGTACA/GTAGAC 1 -- ut310--------
    rs1168953551,2
    C,F--11386307(+) TCTCTT/CCAAAT 1 -- ut311Minor allele frequency- C:0.02EA 120

    HapMap Linkage Disequilibrium report for THSD7A (11410062 - 11660062 bp, first 250kb of THSD7A)

    Structural Variations
         Database of Genomic Variants (DGV) 10/31 variations for THSD7A (see all 31):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2408291CNV Deletion18987734
    esv2672996CNV Deletion23128226
    dgv1123e201CNV Deletion23290073
    esv2733974CNV Deletion23290073
    esv2733975CNV Deletion23290073
    esv2663598CNV Deletion23128226
    esv2674412CNV Deletion23128226
    esv270634CNV Insertion20981092
    nsv464367CNV Loss19166990
    nsv887615CNV Loss21882294


    Human Gene Mutation Database (HGMD): THSD7A
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 612249    OMIM disorders: --

    2 diseases for THSD7A:    About MalaCards
    endotheliitis    


    THSD7A for disorders           About GeneDecksing

    Genetic Association Database (GAD): THSD7A
    Human Genome Epidemiology (HuGE) Navigator: THSD7A (4 documents)

    Export disorders for THSD7A 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 THSD7A gene, integrated from 9 sources (see all 25):
    (articles sorted by number of sources associating them with THSD7A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Soluble THSD7A is an N-glycoprotein that promotes endo thelial cell migration and tube formation in angiogenesis. (PubMed id 22194972)1, 2 Kuo M.W....Chuang Y.J. (2011)
    2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    3. Family-based association study for bipolar affective disorder. (PubMed id 20414141)1, 4 Secolin R....Lopes-Cendes I. (2010)
    4. Novel association strategy with copy number variation for identifying new risk Loci of human diseases. (PubMed id 20808825)1, 4 Chen X....Kong X. (2010)
    5. Association of genetic variations of genes encoding thrombospondin, type 1, domain-containing 4 and 7A with low bone mineral density in Japanese women with osteoporosis. (PubMed id 18488137)1, 4 Mori S....Ikegawa S. (2008)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    7. Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones. (PubMed id 12168954)1, 2 Nakajima D.... Nagase T. (2002)
    8. Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10231032)1, 2 Nagase T.... Ohara O. (1999)
    9. Association of the formiminotransferase N-terminal sub -domain containing gene and thrombospondin, type 1, domain-containing 7A gene wi th the prevalence of vertebral fracture in 2427 consecutive autopsy cases. (PubMed id 23303384)1 Zhou H....Ito H. (2013)
    10. A cohesin-RAD21 interactome. (PubMed id 22145905)1 Panigrahi A.K....Pati D. (2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 221981 HGNC: 22207 Ensembl:ENSG00000005108 euGenes: HUgn221981 ECgene: THSD7A
    H-InvDB: THSD7A

    (According to HUGE)
    About This Section
    HUGE: KIAA0960

    (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 THSD7A 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 THSD7A gene:
    Search GeneIP for patents involving THSD7A

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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