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

SOX1 Gene

protein-coding   GIFtS: 56
GCID: GC13P112721

SRY (sex determining region Y)-box 1
 Explore 11 diseases affiliated with
SOX1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for SOX1    

Aliases
for SOX1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
SRY (Sex Determining Region Y)-Box 11 2
SRY-Related HMG-Box Gene 12
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


Summaries
for SOX1 gene

(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:
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)

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)




Genomic Views
for SOX1 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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000013.10  NC_018924.1  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 plasmid: SOX1 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

Proteins
for SOX1 gene

(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: 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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_O00570

    • SOX1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_005977.2  
    ENSEMBL proteins: 
     ENSP00000330218  

    Human Recombinant Protein Products: 
    Browse Purified and Recombinant Proteins at EMD Millipore
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    OriGene Protein Over-expression Lysate: 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 ProSpec Recombinant Proteins
    Uscn 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 
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    Abcam antibodies for SOX1 
    Uscn Antibodies for SOX1
    ThermoFisher Antibodies for SOX1

    Assay Products for SOX1: 
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    Uscn ELISAs and CLIAs for SOX1

    Protein Domains /
    Families
    for SOX1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    SOX1 for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR009071 HMG_superfamily
     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


    Function
    for SOX1 gene

    (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: 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

    miRNA
    Products:            		 OriGene 3'-UTR Clone: SOX1
    Browse MicroRNA Expression Plasmids
    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 plasmid: SOX1 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SOX1 (see all 4)
    OriGene shRNA RFP: SOX1
    OriGene siRNA: SOX1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SOX1

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for SOX1

    Clone
    Products:             		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SOX1 (see all 2)
    OriGene untagged cDNA clones in CMV expression vector in human, 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 

    Cell Line
    Products:             		GenScript Custom overexpressing Cell Line Services for SOX1
    Search LifeMap BioReagents cell lines for SOX1

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SOX1

    Gene Ontology (GO): 4 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--


    SOX1 for ontologies           About GeneDecksing


    Animal Models:
         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


    Pathways & Interactions
    for SOX1 gene

    (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

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Rho Family GTPases
    		Molecular Mechanisms of Cancer0.51
    2Wnt Signaling Pathway
    		Wnt Signaling Pathway NetPath0.22

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

    1 BioSystems Pathway for SOX1 
        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): 5/7 biological process terms (GO ID links to tree view) (see all 7):    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



    Drugs & Compounds
    for SOX1 gene

    (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 SOX1
    Search CenterWatch for drugs/clinical trials and news about SOX1 

    Transcripts
    for SOX1 gene

    (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 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:             		 OriGene 3'-UTR Clone: SOX1
    Browse OriGene MicroRNA Expression Plasmids
    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 plasmid: SOX1 3' UTR sequence
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SOX1 (see all 4)
    OriGene shRNA RFP: SOX1
    OriGene siRNA: SOX1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SOX1
    Clone
    Products:             		 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SOX1 (see all 2)
    OriGene untagged cDNA clones in CMV expression vector in human, 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 
    Primer
    Products:            		 OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for SOX1
    Browse OriGene validated miRNA SYBR primer pairs
    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 BE669725 AI703171 AA961095 T07302 BE504430 D81624 
    R46080 R20579 

    GeneLoc Exon Structure


    Expression
    for SOX1 gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GATGGCTGAG

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

    SOX1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    10/18 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 18) 
    Tissue Anatomical Compartment CellCategory (developmental path)
    EctodermEctodermIntraembryonic Ectoderm CellsEarly Embryo, Ectoderm
    Neural EctodermNeural PlateCranial Neural Plate CellsNeural Ectoderm
    Neural EctodermNeural PlateSpinal Neural Plate CellsNeural Ectoderm
    Neural TubeMesencephalonDorsolateral Hinge Point CellsNeural Ectoderm
    Neural TubeMesencephalonMedial Hinge Point CellsNeural Ectoderm
    Neural TubeMesencephalonNeural Fold CellsNeural Ectoderm
    Neural TubeProsencephalonDorsolateral Hinge Point CellsNeural Ectoderm
    Neural TubeProsencephalonMedial Hinge Point CellsNeural Ectoderm
    Neural TubeProsencephalonNeural Fold CellsNeural Ectoderm
    Neural TubeRhombencephalonDorsolateral Hinge Point CellsNeural Ectoderm
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 10/14 LifeMap Cells (see all 14) 
    NameCategory
    Fetal spinal cord stem cells (NSI-566) (Fetal Stem / Progenitor Cell)Spinal Cord
    Blimp1- mVenus and stella-ECFP genetically modified stem cells (Embryonic Stem Cell)Early Embryo, Inner Cell Mass
    Floating neuronal aggregates (Generation of choroi...)
    GABA neuron-like cells (Generation of motor ...)Brain
    Neuroectoderm cells (Generation of human ...)
    Neural rosettes (Generation of photor...)
    Neural rosettes (Motor neuron differe...)
    Neural rosettes (Spinal motor neurons...)
    Matured neural rosettes (Derivation of neural...)
    Neurospheres (Generation of neuros...)

    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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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SOX1
    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SOX1

    Orthologs
    for SOX1 gene

    (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 4/16 species (see all 16)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    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 
    worm
    (Caenorhabditis elegans)    		 Secernentea sox-26
    sox-46
    		 Protein SOX-4
    		 33(a)
    24(a)
    		 1 ↔ many
    possible ortholog
    		 X(7458248-7463691)
    X(3505427-3506378)
    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
    for SOX1 gene

    (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  ENSG000002587242  SOX212  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



    Genomic Variants
    for SOX1 gene

    (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

    10/84 NCBI SNPs in SOX1 are shown (see all 84)     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
    		--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
    		--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 (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for SOX1
         1 CNV: 58612

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SOX1
    DNA2.0 Custom Variant and Variant Library Synthesis for SOX1

    Disorders / Diseases
    for SOX1 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    SOX1 for disorders           About GeneDecksing

    OMIM gene information: 602148    OMIM disorders: --

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

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

    1 Novoseek 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)

    Human Genome Epidemiology (HuGE) Navigator: SOX1 (1 document)

    Export disorders for SOX1 gene to outside databases

    Publications
    for SOX1 gene

    (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 23):
    (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. 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)
    3. 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)
    4. 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 Jugessur A....Murray J.C. (2010)
    5. 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)
    6. 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)
    7. Expression of Sox1, Sox2 and Sox9 is maintained in adult human cerebellar cortex. (PubMed id 19061938)1 Alcock J....Sottile V. (2009)
    8. SOX1 antibodies are markers of paraneoplastic Lambert-Eaton myasthenic syndrome. (PubMed id 18032743)1 Sabater L....Graus F. (2008)
    9. The DNA sequence and analysis of human chromosome 13. (PubMed id 15057823)2 Dunham A.... Ross M.T. (2004)
    10. Sox1 acts through multiple independent pathways to promote neurogenesis. (PubMed id 15110721)1 Kan L....Kessler J.A. (2004)

    External Searches for SOX1 gene

    (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)

    Genome Databases showing SOX1 gene

    (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

    Other Databases showing SOX1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing SOX1 gene

    (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

    Intellectual Property
    for SOX1 gene

    (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:
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