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

SOX1 Gene

protein-coding   GIFtS: 55
GCID: GC13P112721

SRY (Sex Determining Region Y)-Box 1

  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)
About This Section

Aliases
SRY (Sex Determining Region Y)-Box 11 2
SRY-Related HMG-Box Gene 11 2
Transcription Factor SOX-12

External Ids:    HGNC: 111891   Entrez Gene: 66562   Ensembl: ENSG000001829687   OMIM: 6021485   UniProtKB: O005703   

Export aliases for SOX1 gene to outside databases

Previous GC identifers: GC13P111331 GC13P107359 GC13P111808 GC13P110669 GC13P111769 GC13P093184


(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 SOX1 Gene:
This intronless gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in
the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as
a transcriptional activator after forming a protein complex with other proteins. In mice, a similar protein
regulates the gamma-crystallin genes and is essential for lens development. (provided by RefSeq, Jul 2008)

GeneCards Summary for SOX1 Gene: 
SOX1 (SRY (sex determining region Y)-box 1) is a protein-coding gene. Diseases associated with SOX1 include lambert-eaton myasthenic syndrome, and hypopituitarism, and among its related super-pathways are Rho Family GTPases and Wnt signaling pathway. GO annotations related to this gene include core promoter sequence-specific DNA binding and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is SOX13.

UniProtKB/Swiss-Prot: SOX1_HUMAN, O00570
Function: Transcriptional activator. May function as a switch in neuronal development. Keeps neural cells
undifferentiated by counteracting the activity of proneural proteins and suppresses neuronal differentiation (By
similarity)




(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_000013.10  NC_018924.2  NT_027140.6  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SOX1 gene promoter:
         AhR   HNF-4alpha2   C/EBPalpha   Arnt   HNF-4alpha1   CREB   CHOP-10   FOXO4   deltaCREB   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSOX1 promoter sequence
   Search SABiosciences Chromatin IP Primers for SOX1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SOX1


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

Entrez Gene cytogenetic band: 13q34   Ensembl cytogenetic band:  13q34   HGNC cytogenetic band: 13q34

SOX1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SOX1 gene location

GeneLoc information about chromosome 13         GeneLoc Exon Structure

GeneLoc location for GC13P112721:  view genomic region     (about GC identifiers)

Start:
112,721,913 bp from pter      End:
112,726,020 bp from pter
Size:
4,108 bases      Orientation:
plus strand

(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: SOX1_HUMAN, O00570 (See protein sequence)
Recommended Name: Transcription factor SOX-1  
Size: 391 amino acids; 39023 Da
Subcellular location: Nucleus (Probable)
Secondary accessions: Q5W0Q1

Explore the universe of human proteins at neXtProt for SOX1: NX_O00570

Explore proteomics data for SOX1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O00570

  • SOX1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SOX1 Protein Expression
    REFSEQ proteins: NP_005977.2  
    ENSEMBL proteins: 
     ENSP00000330218  

    Human Recombinant Protein Products for SOX1: 
    Browse Purified and Recombinant Proteins at EMD Millipore
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    OriGene Purified Protein for SOX1
    OriGene Protein Over-expression Lysate for SOX1
    OriGene MassSpec for SOX1 
    OriGene Custom Protein Services for SOX1
    GenScript Custom Purified and Recombinant Proteins Services for SOX1
    Novus Biologicals SOX1 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for SOX1 

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus NAS9337405

    SOX1 for ontologies           About GeneDecksing



    SOX1 Antibody Products: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of SOX1
    R&D Systems Antibodies for SOX1
    Cell Signaling Technology (CST) Antibodies for SOX1 
    OriGene Antibodies for SOX1
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    Abcam antibodies for SOX1
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    ThermoFisher Antibodies for SOX1
    LSBio Antibodies in human, mouse, rat for SOX1 

    Assay Products for SOX1: 
    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for SOX1
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for SOX1 
    Cloud-Clone Corp. CLIAs for SOX1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    SOX: SRY (sex determining region Y)-boxes

    2 InterPro protein domains:
     IPR009071 HMG_box_dom
     IPR022097 TF_SOX

    Graphical View of Domain Structure for InterPro Entry O00570

    ProtoNet protein and cluster: O00570

    UniProtKB/Swiss-Prot: SOX1_HUMAN, O00570
    Similarity: Contains 1 HMG box DNA-binding domain


    SOX1 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: SOX1_HUMAN, O00570
    Function: Transcriptional activator. May function as a switch in neuronal development. Keeps neural cells
    undifferentiated by counteracting the activity of proneural proteins and suppresses neuronal differentiation (By
    similarity)

         Genatlas biochemistry entry for SOX1:
    SRY related HMG box gene 1,38.8kDa,moderately expressed in embryonic brain,involved in neural and lens
    development,modulator of LINE retroposons promoter activity

         Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001046core promoter sequence-specific DNA binding IDA--
    GO:0003677DNA binding NAS9337405
    GO:0003700sequence-specific DNA binding transcription factor activity NAS9337405
    GO:0005515protein binding IPI--
    GO:0043565sequence-specific DNA binding ----
         
    SOX1 for ontologies           About GeneDecksing


    Phenotypes:
         7 MGI mutant phenotypes (inferred from 5 alleles(MGI details for Sox1):
     behavior/neurological  cellular  embryogenesis  mortality/aging  nervous system 
     no phenotypic analysis  vision/eye 

    SOX1 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for SOX1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for SOX1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SOX1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SOX1 

    miRNA
    Products:
        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SOX1
    8/36 QIAGEN miScript miRNA Assays for microRNAs that regulate SOX1 (see all 36):
    hsa-miR-429 hsa-miR-139-5p hsa-miR-10b* hsa-miR-155 hsa-miR-3613-3p hsa-miR-1183 hsa-miR-200b hsa-miR-626
    SwitchGear 3'UTR luciferase reporter plasmidSOX1 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for SOX1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SOX1

    Gene Editing
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    Sirion Biotech Customized adenovirus for overexpression of SOX1

    Clone
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    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for SOX1 (see all 7)
    OriGene ORF clones in mouse, rat for SOX1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): SOX1 (NM_002826)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SOX1
    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat SOX1
    Sirion Biotech Customized lentivirus for stable overexpression of SOX1 
                         Customized lentivirus expression plasmids for stable overexpression of SOX1 

    Cell Line
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    Search LifeMap BioReagents cell lines for SOX1
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SOX1


    (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

    SuperPaths for SOX1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Rho Family GTPases
    Molecular Mechanisms of Cancer0.51
    2Wnt signaling pathway
    Wnt Signaling Pathway NetPath0.37
    3Cardiac Progenitor Differentiation
    Cardiac Progenitor Differentiation

    1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for SOX1
        Molecular Mechanisms of Cancer

    2 BioSystems Pathways for SOX1
        Cardiac Progenitor Differentiation
    Wnt Signaling Pathway NetPath


    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SOX1

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

    3 Interacting proteins for SOX1 (O005701, 3 ENSP000003302184) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    STAT3P407631, 3, ENSP000002646574EBI-2935583,EBI-518675 I2D: score=1 STRING: ENSP00000264657
    CTNNB1P352223, ENSP000003444564I2D: score=1 STRING: ENSP00000344456
    POU2F1ENSP000002714114STRING: ENSP00000271411
    About this table

    Gene Ontology (GO): 5/9 biological process terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001764neuron migration IEA--
    GO:0002089lens morphogenesis in camera-type eye IEA--
    GO:0006325chromatin organization NAS9337405
    GO:0006351transcription, DNA-dependent IEA--
    GO:0006355regulation of transcription, DNA-dependent NAS9337405

    SOX1 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 SOX1

    Search CenterWatch for drugs/clinical trials and news about SOX1

    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    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 SOX1 gene: 
    NM_005986.2  

    Unigene Cluster for SOX1:

    SRY (sex determining region Y)-box 1
    Hs.202526  [show with all ESTs]
    Unigene Representative Sequence: NM_005986
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000330949(uc001vsb.1)
    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SOX1
    8/36 QIAGEN miScript miRNA Assays for microRNAs that regulate SOX1 (see all 36):
    hsa-miR-429 hsa-miR-139-5p hsa-miR-10b* hsa-miR-155 hsa-miR-3613-3p hsa-miR-1183 hsa-miR-200b hsa-miR-626
    SwitchGear 3'UTR luciferase reporter plasmidSOX1 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for SOX1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SOX1
    Clone
    Products:
         
    OriGene clones in human, mouse for SOX1 (see all 7)
    OriGene ORF clones in mouse, rat for SOX1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): SOX1 (NM_002826)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SOX1
    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat SOX1
    Sirion Biotech Customized lentivirus for stable overexpression of SOX1 
                         Customized lentivirus expression plasmids for stable overexpression of SOX1 
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for SOX1
    OriGene qSTAR qPCR primer pairs in human, mouse for SOX1
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat SOX1
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SOX1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SOX1

    1 DOTS entry:

    DT.428143 

    10 AceView cDNA sequences:

    NM_005986 BE222206 AI703171 BE669725 AA961095 T07302 BE504430 D81624 
    R46080 R20579 

    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

    SOX1 expression in normal human tissues (normalized intensities)      SOX1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GATGGCTGAG
    SOX1 Expression
    About this image


    SOX1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/10 selected tissues (see all 10) fully expand
     
     Neural Tube (Nervous System)    fully expand to see all 18 entries
             Medial Hinge Point Cells Primitive Spinal Cord
             Telencephalon
             Neural rosettes ( Motor neuron differentiation using noggin induction )
     
     Neural Ectoderm (Nervous System)    fully expand to see all 17 entries
             Cranial Neural Plate Cells Neural Plate
             Neuroepithelial progenitor cells ( Generation of oligodendrocytes and spinal motor...
     
     Brain (Nervous System)    fully expand to see all 11 entries
             Late MN Progenitor Cells Motor Neural Progenitor Domain
             Thalamus
             GABA neuron-like cells ( Generation of motor and gamma-aminobutyric acid (GABA)...
             brain/forebrain/telencephalon   
     
     Spinal Cord (Nervous System)    fully expand to see all 2 entries
             Early MN Progenitor Cells Motor Neural Progenitor Domain
             Fetal spinal cord stem cells (NSI-566)
     
     Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 2 entries
             SNUhES1

    See SOX1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SOX1

    SOURCE GeneReport for Unigene cluster: Hs.202526

    UniProtKB/Swiss-Prot: SOX1_HUMAN, O00570
    Tissue specificity: Mainly expressed in the developing central nervous system

        SABiosciences Expression via Pathway-Focused PCR Array including SOX1: 
              Stem Cells in human mouse rat

    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SOX1

    (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 SOX1 gene from 5/11 species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Sox11 , 5 SRY-box containing gene 11, 5 94.29(n)1
    99.49(a)1
      8 (5.73 cM)5
    206641  NM_009233.31  NP_033259.21 
     123952955 
    lizard
    (Anolis carolinensis)
    Reptilia SOX16
    Uncharacterized protein
    71(a)
    1 ↔ 1
    3(105298539-105299823)
    zebrafish
    (Danio rerio)
    Actinopterygii sox1a1 SRY-box containing gene 1a 74.37(n)
    83.18(a)
      436756  NM_001002483.1  NP_001002483.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Sox21a3
    SoxN1
    transcription factor3
    SoxNeuro1
    88(a)
    (best of 4)3
    55.15(n)1
    47.09(a)1
      70D23
    442751  NM_079996.21  NP_524735.11 
    rice
    (Oryza sativa)
    Liliopsida Os.78552 Oryza sativa (japonica cultivar-group) cDNA cloneJ033027E22, full insert sequence less 72.89(n)    AK073361.1 


    ENSEMBL Gene Tree for SOX1 (if available)
    TreeFam Gene Tree for SOX1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SOX1 gene
    SOX132  SOX22  SOX42  SOX142  SOX32  SOX92  SOX122  SOX152  
    SOX182  SOX52  SOX212  ENSG000002587242  SOX172  SOX62  SOX112  SOX82  
    SRY2  SOX102  SOX72  
    5 SIMAP similar genes for SOX1 using alignment to 1 protein entry:     SOX1_HUMAN:
    SOX3    SOX10    SOX2    SOX14    SOX21

    SOX1 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

    10/117 SNPs in SOX1 are shown (see all 117)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 13 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1871554271,2
    --112720026(+) AGTGTA/GAGCGC 1 -- us2k10--------
    rs619556941,2
    F--112720181(+) GAGACC/TCGTCC 1 -- us2k11Minor allele frequency- T:0.50NA 2
    rs1117343881,2
    C,F--112720332(+) CAACTG/ATTGTT 1 -- us2k12Minor allele frequency- A:0.03NA EA 240
    rs124299201,2
    C,F,H--112720354(+) TTCCAG/AATAGA 1 -- us2k19Minor allele frequency- A:0.26NA WA EA 370
    rs96041871,2
    C,F--112720365(+) TCTTGT/ATGTGT 1 -- us2k12Minor allele frequency- A:0.04CSA WA 120
    rs73322661,2
    C,F,A,H--112720386(+) TAGAAA/GTTCCT 1 -- us2k15Minor allele frequency- G:0.01NS EA WA 530
    rs1488896391,2
    --112720409(+) GAAGAC/TCCGGG 1 -- us2k10--------
    rs1819895801,2
    --112720677(+) CCCTCA/GGAGGG 1 -- us2k10--------
    rs1849943411,2
    --112721444(+) GGCTTA/CCCCCG 1 -- us2k10--------
    rs1895803281,2
    --112721817(+) TTTTGC/TTGTCG 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for SOX1 (112721913 - 112726020 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/11 variations for SOX1 (see all 11):    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv826815CNV Loss20364138
    nsv456128CNV Loss19166990
    nsv832722CNV Loss17160897
    nsv901030CNV Loss21882294
    dgv1796n71CNV Loss21882294
    nsv819531CNV Gain19587683
    dgv351n67CNV Gain20364138
    nsv826816CNV Gain20364138
    dgv352n67CNV Gain20364138
    nsv826807CNV Gain20364138

    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing SOX1
    DNA2.0 Custom Variant and Variant Library Synthesis for SOX1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 602148    OMIM disorders: --

    7 diseases for SOX1:    About MalaCards
    lambert-eaton myasthenic syndrome    hypopituitarism    primitive neuroectodermal tumor    lung cancer
    medulloblastoma    myeloma    neuronitis

    1 disease from the University of Copenhagen DISEASES database for SOX1:
    Lambert-Eaton myasthenic syndrome

    SOX1 for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for SOX1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    small cell lung cancer 46.3 1 10760287 (1)

    Genetic Association Database (GAD): SOX1
    Human Genome Epidemiology (HuGE) Navigator: SOX1 (1 document)

    Export disorders for SOX1 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 SOX1 gene, integrated from 9 sources (see all 26):
    (articles sorted by number of sources associating them with SOX1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning and mapping of the human SOX1: a highly conserved gene expressed in the developing brain. (PubMed id 9337405)1, 2, 3 Malas S.... Episkopou V. (1997)
    2. Maternal genes and facial clefts in offspring: a comp rehensive search for genetic associations in two population-based cleft studies from Scandinavia. (PubMed id 20634891)1, 4 Jugessur A....Murray J.C. (2010)
    3. SOX antibodies in small-cell lung cancer and Lambert- Eaton myasthenic syndrome: frequency and relation with survival. (PubMed id 19667272)1, 9 Titulaer M.J....Verschuuren J.J. (2009)
    4. Frequent concomitant epigenetic silencing of SOX1 and secreted frizzled-related proteins (SFRPs) in human hepatocellular carcinoma. (PubMed id 23215838)1 Shih Y.L....Lin Y.W. (2013)
    5. DMH1, a highly selective small molecule BMP inhibitor promotes neurogenesis of hiPSCs: comparison of PAX6 and SOX1 expression during n eural induction. (PubMed id 22860217)1 Neely M.D....Bowman A.B. (2012)
    6. SOX1 antibodies in Lambert-Eaton myasthenic syndrome a nd screening for small cell lung carcinoma. (PubMed id 23278580)1 Lipka A.F....Titulaer M.J. (2012)
    7. SOX1 functions as a tumor suppressor by antagonizing t he WNT/b-catenin signaling pathway in hepatocellular carcinoma. (PubMed id 22767186)1 Tsao C.M....Lin Y.W. (2012)
    8. Sox1 is required for the specification of a novel p2- derived interneuron subtype in the mouse ventral spinal cord. (PubMed id 20844123)1 Panayi H....Malas S. (2010)
    9. Upregulation of SOX2, NOTCH1, and ID1 in supratentori al primitive neuroectodermal tumors: a distinct differentiation pattern from th at of medulloblastomas. (PubMed id 20515335)1 Phi J.H....Kim S.K. (2010)
    10. Expression of Sox1, Sox2 and Sox9 is maintained in adult human cerebellar cortex. (PubMed id 19061938)1 Alcock J....Sottile V. (2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    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)
    About This Section
    Entrez Gene: 6656 HGNC: 11189 AceView: SOX1 Ensembl:ENSG00000182968 euGenes: HUgn6656
    ECgene: SOX1 H-InvDB: SOX1

    (According to HUGE)
    About This Section
      --

    (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 SOX1 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 SOX1 gene:
    Search GeneIP for patents involving SOX1

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



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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