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

PUS10 Gene

protein-coding   GIFtS: 46
GCID: GC02M061167

pseudouridylate synthase 10

(Previous name: coiled-coil domain containing 139 )
(Previous symbol: CCDC139)
 Explore 6 diseases affiliated with
PUS10 via our new
 Human Malady Compendium 
Biological research products
for PUS10
    

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

Aliases
Pseudouridylate Synthase 101 2     TRNA-Uridine Isomerase2 3
CCDC1391 2 3     FLJ323121
DOBI2 3 5     Pseudouridine Synthase 102
Coiled-Coil Domain Containing 1391 2     Putative TRNA Pseudouridine Synthase Pus102
Coiled-Coil Domain-Containing Protein 1392 3     EC 5.4.99.-3
Psi55 Synthase2 3     PUS15
TRNA Pseudouridine 55 Synthase2 3     EC 5.4.998
TRNA Pseudouridylate Synthase2 3     

External Ids:    HGNC: 265051   Entrez Gene: 1509622   Ensembl: ENSG000001629277   OMIM: 6127875   UniProtKB: Q3MIT23   

Export aliases for PUS10 gene to outside databases

Previous GC identifers: GC02M061023 GC02M060909


(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 PUS10:
Pseudouridination, the isomerization of uridine to pseudouridine, is the most common posttranscriptional nucleotide
modification found in RNA and is essential for biologic functions such as spliceosome biogenesis. Pseudouridylate
synthases, such as PUS10, catalyze pseudouridination of structural RNAs, including transfer, ribosomal, and splicing
RNAs. These enzymes also act as RNA chaperones, facilitating the correct folding and assembly of tRNAs (McCleverty et
al., 2007 (PubMed 17900615)).(supplied by OMIM, May 2009)

UniProtKB/Swiss-Prot: PUS10_HUMAN, Q3MIT2
Function: Pseudouridylate synthases catalyze pseudouridination of structural RNAs, including transfer, ribosomal, and
splicing RNAs. PUS10 catalyzes the formation of the universal psi55 in the GC loop of transfer RNAs (Probable).
Modulator of TRAIL-induced cell death via activation of procaspase 8 and BID cleavage. Required for the progression of
the apoptotic signal through intrinsic mitochondrial cell death




(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_000002.11  NC_018913.1  NT_022184.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the PUS10 gene promoter:
         p53   CUTL1   Tal-1beta   E47   YY1   POU2F1   POU2F1b   POU2F1a   POU2F1c   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPUS10 promoter sequence
   Search SABiosciences Chromatin IP Primers for PUS10

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PUS10


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

Entrez Gene cytogenetic band: 2p16.1   Ensembl cytogenetic band:  2p16.1   HGNC cytogenetic band: 2p16.1

PUS10 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PUS10 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M061167:  view genomic region     (about GC identifiers)

Start:
61,167,548 bp from pter      End:
61,245,389 bp from pter
Size:
77,842 bases      Orientation:
minus 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: PUS10_HUMAN, Q3MIT2 (See protein sequence)
Recommended Name: Putative tRNA pseudouridine synthase Pus10  
Size: 529 amino acids; 60244 Da
Sequence caution: Sequence=CAI46123.1; Type=Miscellaneous discrepancy; Note=Partially unspliced pre-RNA;
1 PDB 3D structure from and Proteopedia for PUS10:
2V9K (3D)    
Secondary accessions: Q5JPJ5 Q96MI8

Explore the universe of human proteins at neXtProt for PUS10: NX_Q3MIT2

Post-translational modifications:

  • Proteolytically cleaved during TRAIL-induced cell death. Cleaved, in vitro, either by caspase-3 or caspase-81
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q3MIT2

  • 2 DME Specific Peptides for PUS10 (Q3MIT2)
     TQAGTYIKE  SSGREDVDVR 

    PUS10 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_653310.2  
    ENSEMBL proteins: 
     ENSP00000326003   ENSP00000386074   ENSP00000403880   ENSP00000402185   ENSP00000381651  

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    Uscn Proteins for PUS10


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    Uscn ELISAs and CLIAs for PUS10


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    PUS10 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR020103 PsdUridine_synth_cat_dom

    Graphical View of Domain Structure for InterPro Entry Q3MIT2

    ProtoNet protein and cluster: Q3MIT2

    UniProtKB/Swiss-Prot: PUS10_HUMAN, Q3MIT2
    Similarity: Belongs to the pseudouridine synthase Pus10 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: PUS10_HUMAN, Q3MIT2
    Function: Pseudouridylate synthases catalyze pseudouridination of structural RNAs, including transfer, ribosomal, and
    splicing RNAs. PUS10 catalyzes the formation of the universal psi55 in the GC loop of transfer RNAs (Probable).
    Modulator of TRAIL-induced cell death via activation of procaspase 8 and BID cleavage. Required for the progression of
    the apoptotic signal through intrinsic mitochondrial cell death
    Catalytic activity: tRNA uridine = tRNA pseudouridine

    Enzyme Numbers (IUBMB): EC 5.4.992 EC 5.4.99.-1

    miRNA
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    hsa-miR-30c hsa-miR-640 hsa-miR-219-5p hsa-miR-30d hsa-miR-877* hsa-miR-10b* hsa-miR-9 hsa-miR-124
    SwitchGear 3'UTR luciferase reporter plasmidPUS10 3' UTR sequence
    Inhib. RNA
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    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003723RNA binding IEA--
    GO:0009982pseudouridine synthase activity IEA--


    PUS10 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for PUS10:
     Increased viability with TRAIL 


    (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



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for PUS10

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

    1 Interacting protein for PUS10 (ENSP000003260034) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    FAM206AENSP000003637534STRING: ENSP00000363753
    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:0001522pseudouridine synthesis IEA--
    GO:0008033tRNA processing IEA--


    PUS10 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
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for PUS10

    2 HMDB Compounds for PUS10    About this table
    CompoundSynonyms CAS #PubMed Ids
    Pseudouridine5-(b-D-Ribofuranosyl)uracil (see all 12)1445-07-4--
    Uridine1-b-D-Ribofuranosyl-2,4(1H,3H)-pyrimidinedione (see all 9)58-96-8--
    Search CenterWatch for drugs/clinical trials and news about PUS10 

    (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 PUS10 gene: 
    NM_144709.2  

    Unigene Cluster for PUS10:

    Pseudouridylate synthase 10
    Hs.368348  [show with all ESTs]
    Unigene Representative Sequence: AL832208
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000316752(uc010fci.3 uc002sao.3 uc010ypk.2) ENST00000407787
    ENST00000430495 ENST00000421319 ENST00000398658(uc002sap.1 uc002saq.1)


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    8/25 QIAGEN miScript miRNA Assays for microRNAs that regulate PUS10 (see all 25):
    hsa-miR-30c hsa-miR-640 hsa-miR-219-5p hsa-miR-30d hsa-miR-877* hsa-miR-10b* hsa-miR-9 hsa-miR-124
    SwitchGear 3'UTR luciferase reporter plasmidPUS10 3' UTR sequence
    Inhib. RNA
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PUS10
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PUS10

    Additional cDNA sequence: 

    AK021502.1 AK056874.1 AK291729.1 AL832208.1 BC060323.1 BC065197.1 BC101680.1 BC101706.1 
    BC143480.1 

    9 DOTS entries:

    DT.410843  DT.100744161  DT.97795960  DT.100806543  DT.102831152  DT.86852422  DT.95363132  DT.100745630 
    DT.95201729 

    24/59 AceView cDNA sequences (see all 59):

    BC065197 AK056874 AA813267 AW295480 AA992539 AA213623 BM742823 Z44756 
    NM_144709 AA731778 AK130934 AL832208 AA720884 AA213749 AW576368 F03741 
    BE046344 R37793 AW503429 BU624272 AK021502 BP354604 AA125988 AV700540 

    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

    PUS10 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TTCTAATTTT

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

    About this image
    See PUS10 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PUS10

    SOURCE GeneReport for Unigene cluster: Hs.368348
        SABiosciences Custom PCR Arrays for PUS10
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PUS10

    (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 eukaryotes.

    Orthologs for PUS10 gene from 9/29 species (see all 29)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pus101 , 5 pseudouridylate synthase 101, 5 86.21(n)1
    86.91(a)1
      11 (14.34 cM)5
    744671  NM_001033654.21  NP_001028826.11 
     236656745 
    chicken
    (Gallus gallus)
    Aves PUS101 pseudouridylate synthase 10 76.81(n)
    75.61(a)
      421198  NM_001199449.1  NP_001186378.1 
    lizard
    (Anolis carolinensis)
    Reptilia PUS106
    --
    69(a)
    1 ↔ 1
    GL343523.1(410879-427168)
    African clawed frog
    (Xenopus laevis)
    Amphibia BU900034.12   -- 74.24(n)    BU900034.1 
    zebrafish
    (Danio rerio)
    Actinopterygii BQ605475.12   -- 78.47(n)    BQ605475.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG37091 CG3709 46.06(n)
    37.05(a)
      33178  NM_134656.3  NP_608500.1 
    worm
    (Caenorhabditis elegans)
    Secernentea Y48C3A.201 Protein Y48C3A.20 47.14(n)
    37.14(a)
      174977  NM_064418.1  NP_496819.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT1G204101 Pseudouridine synthase family protein 50.04(n)
    39.4(a)
      838630  NM_101892.3  NP_173466.2 
    rice
    (Oryza sativa)
    Liliopsida Os04g05617001 hypothetical protein 47.91(n)
    37.85(a)
      4336659  NM_001060089.2  NP_001053554.2 


    ENSEMBL Gene Tree for PUS10 (if available)
    TreeFam Gene Tree for PUS10 (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

    10/1065 NCBI SNPs in PUS10 are shown (see all 1065    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs748029081,2
    --61167051(+) CCATGA/GTTCAG 1 -- int10--------
    rs1456637411,2
    --61167130(+) AATAGA/CATCAT 1 -- int10--------
    rs1839502021,2
    --61167153(+) TTTCAC/TAATAA 1 -- int10--------
    rs728890201,2
    C,--61167167(+) AGGGTA/CGCCTT 1 -- int15Minor allele frequency- C:0.14WA CSA NA EA 362
    rs130148031,2
    C,F,H,--61167216(+) TCTTAT/CGTGGA 1 -- int114Minor allele frequency- C:0.07NS EA NA 1772
    rs1887269041,2
    --61167258(+) GAAAAG/TATTTG 1 -- int10--------
    rs1381163141,2
    --61167385(+) TTTCTC/TTTGAC 1 -- int10--------
    rs10538621,2
    C,F,O,A,H,--61167761(-) GAAGAT/CTTCTA 1 -- ut3122Minor allele frequency- C:0.33MN NS EA NA WA 2532
    rs1807623501,2
    --61167865(+) TCCTAA/TATTAT 1 -- ut310--------
    rs12061,2
    C,F,A,H,--61168000(-) TCACTA/CTTGTC 1 -- ut3123Minor allele frequency- N:0.00MN EA NA NS WA 2614

    HapMap Linkage Disequilibrium report for PUS10 (61167548 - 61245389 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 3 variations for PUS10
         3 CNVs: 2386 3361 8373

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing PUS10
    DNA2.0 Custom Variant and Variant Library Synthesis for PUS10

    (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

    PUS10 for disorders           About GeneDecksing

    OMIM gene information: 612787    OMIM disorders: --

    6 diseases for PUS10:    About MalaCards
    ankylosing spondylitis    conduct disorder    ulcerative colitis    spondylitis
    celiac disease    crohn's disease

    Human Genome Epidemiology (HuGE) Navigator: PUS10 (7 documents)

    Export disorders for PUS10 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 PUS10 gene, integrated from 9 sources (see all 21):
    (articles sorted by number of sources associating them with PUS10)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Crystal structure of human Pus10, a novel pseudouridine synthase. (PubMed id 17900615)1, 2, 3 McCleverty C.J.... Kreusch A. (2007)
    2. DOBI is cleaved by caspases during TRAIL-induced apop totic cell death. (PubMed id 19712588)1, 2 Park S.Y....Kim T.H. (2009)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    4. Identification of modulators of TRAIL-induced apoptosis via RNAi-based phenotypic screening. (PubMed id 14527409)1, 2 Aza-Blanc P....Cooke M.P. (2003)
    5. A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci. (PubMed id 22412388)1 Kenny E.E....Peter I. (2012)
    6. A meta-analysis of genome-wide association scans iden tifies IL18RAP, PTPN2, TAGAP, and PUS10 as shared risk loci for Crohn's disease and celiac disease. (PubMed id 21298027)1 Festen E.A....Rioux J.D. (2011)
    7. Meta-analysis identifies 29 additional ulcerative col itis risk loci, increasing the number of confirmed associations to 47. (PubMed id 21297633)1 Anderson C.A....Rioux J.D. (2011)
    8. Evidence for significant overlap between common risk variants for Crohn's disease and ankylosing spondylitis. (PubMed id 21072187)1 Laukens D....De Vos M. (2010)
    9. Genome-wide association identifies multiple ulcerativ e colitis susceptibility loci. (PubMed id 20228799)1 McGovern D.P....Weersma R.K. (2010)
    10. Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci. (PubMed id 21102463)1 Franke A....Parkes M. (2010)

    (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: 150962 HGNC: 26505 AceView: FLJ32312 Ensembl:ENSG00000162927 euGenes: HUgn150962
    ECgene: PUS10 H-InvDB: PUS10

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
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    About This Section
    NameDescription
    PharmGKB entry for PUS10 Pharmacogenomics, SNPs, Pathways

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    Patent Information for PUS10 gene:
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