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

DYX1C1 Gene

protein-coding   GIFtS: 52
GCID: GC15M055670

dyslexia susceptibility 1 candidate 1

 Explore 7 diseases affiliated with
DYX1C1 via our new
 Human Malady Compendium 
Biological research products
for DYX1C1
    

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

Aliases
Dyslexia Susceptibility 1 Candidate 11 2     FLJ378821
EKN11 2 3     RD2
DYX12 5     Dyslexia Susceptibility 1 Candidate Gene 1 Protein2
DYXC12 5     

External Ids:    HGNC: 214931   Entrez Gene: 1615822   Ensembl: ENSG000002560617   OMIM: 6087065   UniProtKB: Q8WXU23   

Export aliases for DYX1C1 gene to outside databases

Previous GC identifers: GC00U912963 GC15M053438 GC15M053509 GC15M053434 GC15M053497 GC15M055709 GC15M032535 GC15M055648


(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 DYX1C1:
This gene encodes a tetratricopeptide repeat domain-containing protein. The encoded protein interacts with estrogen
receptors and the heat shock proteins, Hsp70 and Hsp90. An homologous protein in rat has been shown to function in
neuronal migration in the developing neocortex. A chromosomal translocation involving this gene is associated with a
susceptibility to developmental dyslexia. Mutations in this gene are associated with deficits in reading and spelling.
Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene
and the downstream cell cycle progression 1 (CCPG1) gene. (provided by RefSeq, Mar 2011)

UniProtKB/Swiss-Prot: DYXC1_HUMAN, Q8WXU2
Function: Involved in neuronal migration during development of the cerebral neocortex. May regulate the stability and
proteasomal degradation of the estrogen receptors that play an important role in neuronal differentiation, survival
and plasticity

Gene Wiki entry for DYX1C1


(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_000015.9  NC_018926.1  NT_010194.17  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the DYX1C1 gene promoter:
         CREB   Elk-1   RFX1   deltaCREB   MIF-1   XBP-1   LUN-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidDYX1C1 promoter sequence
   Search SABiosciences Chromatin IP Primers for DYX1C1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DYX1C1


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

Entrez Gene cytogenetic band: 15q21.3   Ensembl cytogenetic band:  15q21.3   HGNC cytogenetic band: 15q21.1

DYX1C1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DYX1C1 gene location

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15M055670:  view genomic region     (about GC identifiers)

Start:
55,702,723 bp from pter      End:
55,800,432 bp from pter
Size:
97,710 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: DYXC1_HUMAN, Q8WXU2 (See protein sequence)
Recommended Name: Dyslexia susceptibility 1 candidate gene 1 protein  
Size: 420 amino acids; 48527 Da
Subunit: Interacts with ESR1 and ESR2. Interacts with STUB1
Subcellular location: Nucleus. Cytoplasm
Secondary accessions: Q6P5Y9 Q8N1S6
Alternative splicing: 3 isoforms:  Q8WXU2-1   Q8WXU2-2   Q8WXU2-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for DYX1C1: NX_Q8WXU2

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q8WXU2

  • DYX1C1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (3 alternative transcripts): 
    NP_001028731.1  NP_001028732.1  NP_570722.2  

    ENSEMBL proteins: 
     ENSP00000428097   ENSP00000403412   ENSP00000402640   ENSP00000323275   ENSP00000429219  
     ENSP00000370054   ENSP00000299561  

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    Uscn Proteins for DYX1C1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA19423554
    GO:0005737cytoplasm IDA19423554


    DYX1C1 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

    DYX1C1 for domains           About GeneDecksing

    5/7 InterPro domains/families (see all 7):
     IPR001440 TPR-1
     IPR011990 TPR-like_helical
     IPR008978 HSP20-like_chaperone
     IPR017447 CS_domain
     IPR007052 CS-like_domain

    Graphical View of Domain Structure for InterPro Entry Q8WXU2

    ProtoNet protein and cluster: Q8WXU2

    UniProtKB/Swiss-Prot: DYXC1_HUMAN, Q8WXU2
    Similarity: Contains 1 CS domain
    Similarity: Contains 3 TPR repeats


    (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: DYXC1_HUMAN, Q8WXU2
    Function: Involved in neuronal migration during development of the cerebral neocortex. May regulate the stability and
    proteasomal degradation of the estrogen receptors that play an important role in neuronal differentiation, survival
    and plasticity

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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:0005515protein binding IPI--
    GO:0030331estrogen receptor binding IDA19423554


    DYX1C1 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for DYX1C1:
     Increased cell number in G1, a 


    (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 DYX1C1

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

    5/8 Interacting proteins for DYX1C1 (Q8WXU21, 3 ENSP000003232754) via UniProtKB, MINT, STRING, and/or I2D (see all 8)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MAP1LC3CQ9BXW41, 3, ENSP000003497854EBI-2946907,EBI-2948714 I2D: score=1 STRING: ENSP00000349785
    GABARAPO951661, 3EBI-2946907,EBI-712001 I2D: score=3 
    GABARAPL1Q9H0R81, 3EBI-2946907,EBI-3240381 I2D: score=3 
    GABARAPL2P605201, 3EBI-2946907,EBI-2973440 I2D: score=2 
    HSPA1AP081073, ENSP000003648024I2D: score=1 STRING: ENSP00000364802
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001764neuron migration ISS--
    GO:0033146regulation of intracellular estrogen receptor signaling pathway IDA19423554
    GO:0061136regulation of proteasomal protein catabolic process IDA19423554


    DYX1C1 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
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    Browse Tocris compounds for DYX1C1
    Search CenterWatch for drugs/clinical trials and news about DYX1C1 / DYXC1 

    (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 DYX1C1 gene (3 alternative transcripts): 
    NM_001033559.2  NM_001033560.1  NM_130810.3  

    Unigene Cluster for DYX1C1:

    Dyslexia susceptibility 1 candidate 1
    Hs.126403  [show with all ESTs]
    Unigene Representative Sequence: NM_130810
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000524160(uc010ugi.2) ENST00000448430 ENST00000457155 ENST00000321149(uc002adc.3)
    ENST00000522437 ENST00000519017 ENST00000380679(uc002adb.3) ENST00000348518(uc002add.3)


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    Additional cDNA sequence: 

    AF337549.1 AK095201.1 BC017392.1 BC062564.1 

    7 DOTS entries:

    DT.92420550  DT.65288218  DT.100747122  DT.99955962  DT.97788301  DT.318388  DT.99947043 

    24/44 AceView cDNA sequences (see all 44):

    AF337549 AA724419 BM820152 BG540324 CA422987 AA912610 AK095201 NM_130810 
    AI359890 AI094704 AW080470 AI783611 CD107587 BC062564 AI360851 AI073572 
    BU567908 BC017392 AI674107 AA317003 BG192162 BE463906 BE972748 BF372375 

    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

    DYX1C1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: ATGAAGATTG

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

    About this image

    DYX1C1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    Posterior foregut-like cells (A scalable, suspensi...)
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See DYX1C1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for DYX1C1

    SOURCE GeneReport for Unigene cluster: Hs.126403

    UniProtKB/Swiss-Prot: DYXC1_HUMAN, Q8WXU2
    Tissue specificity: Expressed in several tissues, including brain, lung, kidney and testis. In brain localizes to a
    fraction of cortical neurons and white matter glial cells

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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 DYX1C1 gene from 6/21 species (see all 21)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Dyx1c11 , 5 dyslexia susceptibility 1 candidate 1 homolog (human)1, 5 80.3(n)1
    79.43(a)1
      9 (40.08 cM)5
    676851  NM_026314.31  NP_080590.31 
     729587855 
    chicken
    (Gallus gallus)
    Aves DYX1C11 dyslexia susceptibility 1 candidate 1 70.27(n)
    66.11(a)
      415409  NM_001008674.1  NP_001008674.1 
    lizard
    (Anolis carolinensis)
    Reptilia DYX1C16
    --
    44(a)
    1 ↔ 1
    AAWZ02041743(1093-5038)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.159252 Xenopus laevis transcribed sequence with weak similarity more 72.27(n)    BJ056709.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.150372 Transcribed sequence with moderate similarity to protein more 70.9(n)    CK026536.1 
    mosquito
    (Anopheles gambiae)
    Insecta AgaP_AGAP0017271 AGAP001727-PA 43.41(n)
    34.37(a)
      4577322  XM_001238467.1  XP_001238468.1 


    ENSEMBL Gene Tree for DYX1C1 (if available)
    TreeFam Gene Tree for DYX1C1 (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

    10/1833 NCBI SNPs in DYX1C1 are shown (see all 1833    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs578099071,2
    C,F,other55722882(+) TAGTTC/ATGTTC 5 /E /* ut31 int1 stg18Minor allele frequency- A:0.20WA CSA NA EU 6098
    rs285703041,2
    --55711486(+) GGCATG/TATCAT 2 -- int10--------
    rs1873057141,2
    --55711504(+) TGCAAA/CCTTGG 2 -- int10--------
    rs80276111,2
    C,--55711531(+) tatccC/Gccacc 2 -- int12Minor allele frequency- G:0.07WA 120
    rs71682021,2
    C,--55711600(+) TGGGGT/GGTGTG 2 -- int14Minor allele frequency- G:0.24NA WA EA 360
    rs110711861,2
    C,F,A,H,--55711713(+) TTACAG/AGAGTG 2 -- int110Minor allele frequency- A:0.48NA WA EA 374
    rs1926921301,2
    --55711758(+) ATTGTA/GTTAGT 2 -- int10--------
    rs781351981,2
    C,F,--55711809(+) TTGATA/TGATTG 2 -- int16Minor allele frequency- T:0.37WA CSA NA 244
    rs1124386911,2
    C,--55711933(+) CTCACG/ACCTGT 2 -- int13Minor allele frequency- A:0.25WA CSA 4
    rs125920851,2
    H--55711938(+) acctgC/Taatcc 2 -- int10--------

    HapMap Linkage Disequilibrium report for DYX1C1 (55702723 - 55800432 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for DYX1C1
         1 CNV: 10485
    Human Gene Mutation Database (HGMD): DYX1C1

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    (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

    DYX1C1 for disorders           About GeneDecksing

    OMIM gene information: 608706   
    OMIM disorders: 127700  
    UniProtKB/Swiss-Prot: DYXC1_HUMAN, Q8WXU2
  • Defects in DYX1C1 may be a cause of susceptibility to dyslexia type 1 (DYX1) [MIM:127700]. A relatively
  • common, complex cognitive disorder characterized by an impairment of reading performance despite adequate
    motivational, educational and intellectual opportunities. It is a multifactorial trait, with evidence for familial
    clustering and heritability. Note=A chromosomal aberration involving DYX1C1 has been found in a family affected by
    dyslexia. Translocation t(2;15)(q11;q21)

    7 diseases for DYX1C1:    About MalaCards
    dyslexia    autism spectrum disorder    neuronitis    adhd
    twinning    breast cancer    cerebritis

    2 diseases from the University of Copenhagen DISEASES database for DYX1C1:
    Dyslexia     Articulation disorder
    Genetic Association Database (GAD): DYX1C1
    Human Genome Epidemiology (HuGE) Navigator: DYX1C1 (14 documents)

    Export disorders for DYX1C1 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 DYX1C1 gene, integrated from 9 sources (see all 37):
    (articles sorted by number of sources associating them with DYX1C1)
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    1. A candidate gene for developmental dyslexia encodes a nuclear tetratricopeptide repeat domain protein dynamically regulated in brain. (PubMed id 12954984)1, 2, 3, 9 Taipale M.... Kere J. (2003)
    2. Functional interaction of DYX1C1 with estrogen recept ors suggests involvement of hormonal pathways in dyslexia. (PubMed id 19423554)1, 2 Massinen S....Kere J. (2009)
    3. DYX1C1 functions in neuronal migration in developing neocortex. (PubMed id 16989952)1, 2 Wang Y....Loturco J.J. (2006)
    4. A family-based association study does not support DYX1C1 on 15q21.3 as a candidate gene in developmental dyslexia. (PubMed id 15702132)1, 4 Marino C....Molteni M. (2005)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    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. Support for EKN1 as the susceptibility locus for dyslexia on 15q21. (PubMed id 15249932)1, 9 Wigg K.G....Barr C.L. (2004)
    8. Exploring the transcriptome of ciliated cells using in silico dissection of human tissues. (PubMed id 22558177)1 Ivliev A.E....Sergeeva M.G. (2012)
    9. The dyslexia candidate gene DYX1C1 is a potential mark er of poor survival in breast cancer. (PubMed id 22375924)1 Rosin G....Kere J. (2012)
    10. The rs3743205 SNP is important for the regulation of t he dyslexia candidate gene DYX1C1 by estrogen receptor b and DNA methylation. (PubMed id 22383464)1 Tammimies K....Nalvarte I. (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)
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    Entrez Gene: 161582 HGNC: 21493 AceView: DYX1C1 Ensembl:ENSG00000256061 euGenes: HUgn161582
    ECgene: DYX1C1 H-InvDB: DYX1C1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for DYX1C1 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 DYX1C1 gene:
    Search GeneIP for patents involving DYX1C1

    GeneCards and IP:
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