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C16orf72 Gene

protein-coding   GIFtS: 46
GCID: GC16P009185

Chromosome 16 Open Reading Frame 72

  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
Chromosome 16 Open Reading Frame 721 2
PRO01492
UPF0472 Protein C16orf722

External Ids:    HGNC: 301031   Entrez Gene: 290352   Ensembl: ENSG000001828317   UniProtKB: Q14CZ03   

Export aliases for C16orf72 gene to outside databases

Previous GC identifers: GC16P009094 GC16P009106


(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 C16orf72 Gene:
C16orf72 (chromosome 16 open reading frame 72) is a protein-coding gene. Diseases associated with C16orf72 include schizoaffective disorder, and williams-beuren syndrome.


(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_000016.10  NC_018927.2  NT_010393.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the C16orf72 gene promoter:
         STAT5B   STAT1   ATF-2   Lmo2   XBP-1   CREB   deltaCREB   c-Myb   NF-kappaB1   Hlf   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidC16orf72 promoter sequence
   Search Chromatin IP Primers for C16orf72

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat C16orf72


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

Entrez Gene cytogenetic band: 16p13.2   Ensembl cytogenetic band:  16p13.2   HGNC cytogenetic band: 16p13.2

C16orf72 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C16orf72 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16P009185:  view genomic region     (about GC identifiers)

Start:
9,185,505 bp from pter      End:
9,215,497 bp from pter
Size:
29,993 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: CP072_HUMAN, Q14CZ0 (See protein sequence)
Recommended Name: UPF0472 protein C16orf72  
Size: 275 amino acids; 30926 Da

Explore the universe of human proteins at neXtProt for C16orf72: NX_Q14CZ0

Explore proteomics data for C16orf72 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See C16orf72 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_054836.2  
    ENSEMBL proteins: 
     ENSP00000331720  

    C16orf72 Human Recombinant Protein Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    ProtoNet protein and cluster: Q14CZ0

    UniProtKB/Swiss-Prot: CP072_HUMAN, Q14CZ0
    Similarity: Belongs to the UPF0472 family


    (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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    Phenotypes:
         3 GenomeRNAi human phenotypes for C16orf72:
     Increased S DNA content  Increased circadian period len  Increased number of mitotic ce 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for C16orf72
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    miRNA
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    miRTarBase miRNAs that target C16orf72:
    hsa-mir-16-5p (MIRT032066), hsa-mir-103a-3p (MIRT027223)

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    Selected qRT-PCR Assays for microRNAs that regulate C16orf72 (see all 124):
    hsa-miR-124* hsa-miR-520e hsa-miR-106a hsa-miR-15a hsa-miR-3653 hsa-miR-550a* hsa-miR-208b hsa-miR-93
    SwitchGear 3'UTR luciferase reporter plasmidC16orf72 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C16orf72


    (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 COMPARTMENTS: 

    CompartmentConfidence
    nucleus3
    cytosol2

    (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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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for C16orf72
    Interactions:

        Search GeneGlobe Interaction Network for C16orf72

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for C16orf72 (ENSP000003317204) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ELAVL1ENSP000003852694STRING: ENSP00000385269
    About this table

    (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 C16orf72 (CP072)



    (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 C16orf72 gene: 
    NM_014117.2  

    Unigene Cluster for C16orf72:

    Chromosome 16 open reading frame 72
    Hs.221497  [show with all ESTs]
    Unigene Representative Sequence: NM_014117
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000327827(uc002czm.3)
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate C16orf72 (see all 124):
    hsa-miR-124* hsa-miR-520e hsa-miR-106a hsa-miR-15a hsa-miR-3653 hsa-miR-550a* hsa-miR-208b hsa-miR-93
    SwitchGear 3'UTR luciferase reporter plasmidC16orf72 3' UTR sequence
    Inhib. RNA
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    OriGene qPCR primer pairs and template standards for C16orf72
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat C16orf72
      QuantiTect SYBR Green Assays in human, mouse, rat C16orf72
      QuantiFast Probe-based Assays in human, mouse, rat C16orf72

    Additional mRNA sequence: 

    AK123266.1 BC029878.1 BC113570.1 

    9 DOTS entries:

    DT.100778406  DT.86847523  DT.97814012  DT.120655190  DT.454573  DT.91766604  DT.97794124  DT.91766608 
    DT.95277839 

    Selected AceView cDNA sequences (see all 489):

    AI298492 BM542567 NM_014117 AA676241 AA405665 CK819000 AI800080 AW138013 
    AA476851 BF593834 BM790299 BG575731 BE328163 BF432711 AA737784 AA745998 
    CA307404 BE043098 AA568372 AA947634 BQ228174 BI224497 AA424262 AA693914 

    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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    C16orf72 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CGTTTGGAGT
    C16orf72 Expression
    About this image


    C16orf72 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Blood (Hematopoietic System)
             Granulocytes Peripheral Blood
    C16orf72 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    C16orf72 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.221497
        Custom PCR Arrays for C16orf72
    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C16orf72

    (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 C16orf72 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia 1810013L24Rik1 , 5 RIKEN cDNA 1810013L24 gene1, 5 97.09(n)1
    98.55(a)1
      16 (4.37 cM)5
    690531  NM_001081400.31  NP_001074869.11 
     88301005 
    chicken
    (Gallus gallus)
    Aves LOC4166391 UPF0472 protein C16orf72 homolog 88.03(n)
    91.12(a)
      416639  XM_003642108.2  XP_003642156.2 
    lizard
    (Anolis carolinensis)
    Reptilia C16orf726
    chromosome 16 open reading frame 72
    82(a)
    1 ↔ 1
    GL343263.1(1849568-1865818)
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC685532 hypothetical protein MGC68553 83.26(n)    BC060006.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufb59e092 wufb59e09 74.8(n)   322387  BC050493.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG47686
    --
    32(a)
    1 ↔ 1
    X(16686154-16690789)


    ENSEMBL Gene Tree for C16orf72 (if available)
    TreeFam Gene Tree for C16orf72 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for C16orf72 gene

    C16orf72 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for C16orf72
    PGOHUM00000242048


    (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 C16orf72 (see all 812)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1507111571,2
    --9183661(+) CAAGTC/TATTTC 1 -- us2k10--------
    rs1149302371,2
    C,F--9183748(+) CTACAA/GTTGGA 1 -- us2k11Minor allele frequency- G:0.03WA 118
    rs127087761,2
    C,F,A--9183770(+) TAGCCG/ACCGCG 1 -- us2k112Minor allele frequency- A:0.32NA WA CSA EA 374
    rs1923411341,2
    --9183854(+) GAAGGA/GTGCTA 1 -- us2k10--------
    rs121489201,2
    C,F,A,H--9183900(+) GCTATC/GTGAGG 1 -- us2k122Minor allele frequency- G:0.33NS EA NA WA CSA 2046
    rs579752071,2
    C,F--9183937(+) GATAGC/TAGACT 1 -- us2k13Minor allele frequency- T:0.21CSA WA 122
    rs727699511,2
    --9183942(+) CAGACC/TGGGGC 1 -- us2k10--------
    rs1835312271,2
    --9184045(+) CCAAGC/TAGGGG 1 -- us2k10--------
    rs1133371291,2
    C,F--9184496(+) AGGTGC/TGGGGG 1 -- us2k11Minor allele frequency- T:0.50CSA 2
    rs129226621,2
    C,F--9184729(+) TGGGCC/GGGGCG 1 -- us2k15Minor allele frequency- G:0.09NA WA EA 362

    HapMap Linkage Disequilibrium report for C16orf72 (9185505 - 9215497 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for C16orf72:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv525864CNV Loss19592680
    nsv457400CNV Gain19166990
    nsv519065CNV Gain19592680
    nsv457401CNV Gain19166990
    dgv2600n71CNV Gain21882294
    nsv457402CNV Gain19166990

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing C16orf72
    DNA2.0 Custom Variant and Variant Library Synthesis for C16orf72

    (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.)
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    2 diseases for C16orf72:    
    About MalaCards
    schizoaffective disorder    williams-beuren syndrome

    2 diseases from the University of Copenhagen DISEASES database for C16orf72:
    Williams-Beuren syndrome     Schizoaffective disorder

    C16orf72 for disorders           About GeneDecksing

    Genetic Association Database (GAD): C16orf72
    Human Genome Epidemiology (HuGE) Navigator: C16orf72 (1 document)

    Export disorders for C16orf72 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 C16orf72 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with C16orf72)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Normalization and subtraction: two approaches to facilitate gene discovery. (PubMed id 8889548)1, 3 Bonaldo M.F.... Soares M.B. (Genome Res. 1996)
    2. A genome-wide association study of behavioral disinhibition. (PubMed id 23942779)1 McGue M....Iacono W.G. (Behav. Genet. 2013)
    3. Ubiquitin-mediated proteolysis of HuR by heat shock. (PubMed id 19322201)1 Abdelmohsen K....Gorospe M. (EMBO J. 2009)
    4. A quantitative atlas of mitotic phosphorylation. (PubMed id 18669648)2 Dephoure N.... Gygi S.P. (Proc. Natl. Acad. Sci. U.S.A. 2008)
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1 Ota T.... Sugano S. (Nat. Genet. 2004)
    7. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 29035 HGNC: 30103 AceView: PRO0149 Ensembl:ENSG00000182831 euGenes: HUgn29035
    ECgene: C16orf72 H-InvDB: C16orf72

    (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)
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    NameDescription
    PharmGKB entry for C16orf72 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for C16orf72 gene:
    Search GeneIP for patents involving C16orf72

    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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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