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C16orf13 Gene

protein-coding   GIFtS: 44
GCID: GC16M000729

Chromosome 16 Open Reading Frame 13

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(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 131 2
UPF0585 Protein C16orf132

External Ids:    HGNC: 141411   Entrez Gene: 843262   Ensembl: ENSG000001307317   UniProtKB: Q96S193   

Export aliases for C16orf13 gene to outside databases

Previous GC identifers: GC16U990159 GC16M000625 GC16M000605


(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 C16orf13 Gene:
C16orf13 (chromosome 16 open reading frame 13) is a protein-coding 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 at NCBI GenBank:
NC_000016.9  NC_018927.2  NT_010393.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the C16orf13 gene promoter:
         NF-1   AP-2alpha isoform 3   AP-2alpha isoform 2   LCR-F1   E47   HEN1   Ik-2   AP-2alpha isoform 4   AP-2alpha   AP-2alphaA   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidC16orf13 promoter sequence
   Search Chromatin IP Primers for C16orf13

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat C16orf13


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

Entrez Gene cytogenetic band: 16p13.3   Ensembl cytogenetic band:  16p13.3   HGNC cytogenetic band: 16p13.3

C16orf13 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C16orf13 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16M000729:  view genomic region     (about GC identifiers)

Start:
684,429 bp from pter      End:
686,358 bp from pter
Size:
1,930 bases      Orientation:
minus 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: CP013_HUMAN, Q96S19 (See protein sequence)
Recommended Name: UPF0585 protein C16orf13  
Size: 204 amino acids; 22578 Da
Sequence caution: Sequence=AAK61238.1; Type=Erroneous gene model prediction; Sequence=EAW85785.1; Type=Erroneous
gene model prediction;
Secondary accessions: A8MTR1 A8MWJ8 A8MZA1 B4DG95 B4DIJ3 D6REA6 F6TF62 F6VM53 Q96IW1 Q96MD6
Alternative splicing: 6 isoforms:  Q96S19-1   Q96S19-2   Q96S19-3   Q96S19-4   Q96S19-5   Q96S19-6   (No experimental confirmation available. Gene prediction based on EST data)

Explore the universe of human proteins at neXtProt for C16orf13: NX_Q96S19

Explore proteomics data for C16orf13 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See C16orf13 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (6 alternative transcripts): 
    NP_001035250.1  NP_001035251.1  NP_001035252.1  NP_001035255.1  NP_001275639.1  NP_115742.3  

    ENSEMBL proteins: 
     ENSP00000444140   ENSP00000440765   ENSP00000445926   ENSP00000440475   ENSP00000456569  
     ENSP00000454359   ENSP00000444460   ENSP00000456393   ENSP00000454993   ENSP00000455614  
     ENSP00000454764  

    C16orf13 Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for C16orf13

     
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    antibodies-online proteins for C16orf13 

     
    antibodies-online peptides for C16orf13

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    antibodies-online antibodies for C16orf13 (9 products) 

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    Cloud-Clone Corp. CLIAs for C16orf13
    Search eBioscience for ELISAs for C16orf13 
    antibodies-online kits for C16orf13 (2 products) 


    (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:
     IPR010342 DUF938

    Graphical View of Domain Structure for InterPro Entry Q96S19

    ProtoNet protein and cluster: Q96S19

    UniProtKB/Swiss-Prot: CP013_HUMAN, Q96S19
    Similarity: Belongs to the UPF0585 family


    Find genes that share domains with C16orf13           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Phenotypes:
         2 GenomeRNAi human phenotypes for C16orf13:
     Decreased POU5F1-GFP protein e  Increased number of cells in m 

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for C16orf13

    miRNA
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    Predesigned siRNA for gene silencing in human, mouse, rat C16orf13

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    Browse Sino Biological Human cDNA Clones
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    (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
    extracellular2
    cytosol1
    mitochondrion1
    nucleus1
    plasma membrane1

    (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 C16orf13
    Interactions:

        Search GeneGlobe Interaction Network for C16orf13

    (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 C16orf13 (CP013)



    (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,
    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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for C16orf13 gene (9 alternative transcripts): 
    NM_001040163.1  NM_001040164.1  NM_001040166.1  NM_001040160.2  NM_001040161.2  NM_001040162.2  NM_001040165.2  NM_001288710.1  
    NM_032366.4  

    Unigene Cluster for C16orf13:

    Chromosome 16 open reading frame 13
    Hs.239500  [show with all ESTs]
    Unigene Representative Sequence: AK057077
    13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000338401(uc002cib.1) ENST00000397666 ENST00000301686 ENST00000448973(uc002chv.1 uc002chw.1 uc002chz.1)
    ENST00000397664(uc002cia.1) ENST00000568077 ENST00000456420 ENST00000397665
    ENST00000564039 ENST00000568773 ENST00000565163 ENST00000568830 ENST00000565799

    miRNA
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    Primer
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    OriGene qPCR primer pairs and template standards for C16orf13
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat C16orf13
      QuantiTect SYBR Green Assays in human, mouse, rat C16orf13
      QuantiFast Probe-based Assays in human, mouse, rat C16orf13

    Additional mRNA sequence: 

    AK057077.1 AK293046.1 AK294482.1 AK295628.1 BC007207.1 

    14 DOTS entries:

    DT.92435396  DT.92435392  DT.120676469  DT.95203914  DT.100822569  DT.95203921  DT.455110  DT.100822568 
    DT.102845478  DT.120676483  DT.120676489  DT.100822567  DT.95203929  DT.95203935 

    Selected AceView cDNA sequences (see all 213):

    BU931662 AI740773 BF590588 AI452530 AI268083 BE504328 AI291286 BE504014 
    BE502931 AV705368 AI301893 AI393228 BE467661 AW340951 AI391582 AI697481 
    AI701112 AI392927 CB156542 AI146806 BE550025 AW163468 AI312111 CB046936 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for C16orf13 (see all 17)    About this scheme

    ExUns: 1a · 1b · 1c · 1d · 1e · 1f · 1g ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5a · 5b · 5c ^ 6a · 6b · 6c ^ 7a · 7b · 7c ^ 8a · 8b · 8c · 8d
    SP1:                                                        -           -     -                             -                                             
    SP2:                                                        -           -                                   -                                             
    SP3:                                                        -           -     -     -     -                 -                                             
    SP4:                                                        -     -     -     -                             -                                             
    SP5:                                            -     -     -           -                                   -                                             


    ECgene alternative splicing isoforms for C16orf13

    (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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    C16orf13 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCCTGCTGCC
    C16orf13 Expression
    About this image

    C16orf13 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    C16orf13 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.239500
        Custom PCR Arrays for C16orf13
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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C16orf13

    (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 C16orf13 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia 0610011F06Rik1 , 5 RIKEN cDNA 0610011F06 gene1, 5 85.71(n)1
    86.7(a)1
      17 (12.97 cM)5
    683471  NM_026686.21  NP_080962.11 
     258754645 
    lizard
    (Anolis carolinensis)
    Reptilia C16orf136
    chromosome 16 open reading frame 13
    44(a)
    1 ↔ 1
    AAWZ02036908(7661-20261)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia c16orf131 chromosome 16 open reading frame 13 61.88(n)
    57.92(a)
      496705  NM_001039734.1  NP_001034823.2 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc:567191 zgc:56719 58.78(n)
    57.64(a)
      386899  NM_200116.1  NP_956410.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG186611 CG18661 51.68(n)
    43.43(a)
      50438  NM_001201814.2  NP_001188743.1 
    worm
    (Caenorhabditis elegans)
    Secernentea Y26E6A.31 Y26E6A.3 48(n)
    45(a)
      3564786  NM_001029785.4  NP_001024956.1 


    ENSEMBL Gene Tree for C16orf13 (if available)
    TreeFam Gene Tree for C16orf13 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for C16orf13 gene
    1 SIMAP similar gene for C16orf13 using alignment to 7 protein entries:     CP013_HUMAN (see all proteins):
    MGC13114

    Find genes that share paralogs with C16orf13           About GenesLikeMe



    (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 C16orf13 (see all 16)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1891618441,2
    C--684669(+) GAGGAC/TGGCCC 5 -- int10--------
    rs2009768921,2
    --684682(+) AACCCC/GTAGAG 5 -- int10--------
    rs1473599151,2
    C--684777(+) TGTCCC/TGAAGC 10 Q R S mis1 syn12Minor allele frequency- T:0.00NA EU 5119
    rs2003453611,2
    C--684807(+) AGAGGA/GTGGGG 5 -- int10--------
    rs1818613751,2
    C--684811(+) GGTGGA/GGAGAT 5 -- int10--------
    VAR_0643684
    ----see VAR_0643682 L P mis40--------
    rs3708280181,2
    ----684718(+) ACCTAC/TCATCC 5 -- spd10--------
    rs3703004321,2
    ----684667(+) TGGAGA/GCGGCC 5 -- int10--------
    rs3739365601,2
    ----684627(+) TTGTTG/TTTGGC 10 K N Q mis10--------
    rs3712456171,2
    ----684666(+) CTGGAA/GGACGG 5 -- int10--------

    HapMap Linkage Disequilibrium report for C16orf13 (684429 - 686358 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for C16orf13 (see all 22):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2750219CNV Deletion23290073
    esv2422427CNV Duplication17116639
    dgv2489n71CNV Loss21882294
    dgv2475n71CNV Loss21882294
    nsv904760CNV Loss21882294
    dgv334n27CNV Loss19166990
    nsv904779CNV Loss21882294
    nsv904707CNV Loss21882294
    dgv2487n71CNV Loss21882294
    nsv904759CNV Loss21882294

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing C16orf13
    DNA2.0 Custom Variant and Variant Library Synthesis for C16orf13

    (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.)
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      --

    (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 C16orf13 gene, integrated from 10 sources (see all 11):
    (articles sorted by number of sources associating them with C16orf13)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    2. Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16. (PubMed id 11157797)1, 2 Daniels R.J....Higgs D.R. (Hum. Mol. Genet. 2001)
    3. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (Cell 2012)
    4. N-terminal acetylome analyses and functional insights of the N- terminal acetyltransferase NatB. (PubMed id 22814378)2 Van Damme P....Aldabe R. (Proc. Natl. Acad. Sci. U.S.A. 2012)
    5. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (amp 2011)
    6. A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24. (PubMed id 20797691)2 Corbett M.A.... Gecz J. (Am. J. Hum. Genet. 2010)
    7. Transcriptome analysis of human gastric cancer. (PubMed id 16341674)1 Oh J.H.... Kim N.S. (Mamm. Genome 2005)
    8. The sequence and analysis of duplication-rich human chromosome 16. (PubMed id 15616553)2 Martin J.... Pennacchio L.A. (Nature 2004)
    9. Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions. (PubMed id 15342556)1 Suzuki Y.... Sugano S. (Genome Res. 2004)
    10. 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)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    NCBI Bookshelf
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 84326 HGNC: 14141 AceView: MGC13114 Ensembl:ENSG00000130731 euGenes: HUgn84326
    ECgene: C16orf13 H-InvDB: C16orf13

    (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 C16orf13 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 C16orf13 gene:
    Search GeneIP for patents involving C16orf13

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



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