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SPANXA1 Gene

protein-coding   GIFtS: 42
GCID: GC0XM140671

Sperm Protein Associated With The Nucleus, X-Linked, Family...

(Previous names: sperm protein associated with the nucleus, X chromosome,...)
(Previous symbol: SPANX)
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Sperm Protein Associated With The Nucleus, X-Linked, Family Member
A11 2
     Cancer/Testis Antigen Family 111
SPANX1 2 5     Member 11
Sperm Protein Associated With The Nucleus, X Chromosome, Family Member A11 2     NAP-X2
Cancer/Testis Antigen 11.12 3     SPAN-Xa2
Nuclear-Associated Protein SPAN-Xa2 3     SPAN-Xb2
CT11.12 3     Cancer/Testis Antigen Family 11, Member 12
SPAN-X2 3     SPANX Family, Member A12
SPANX-A2 3     Sperm Protein Associated With The Nucleus On The X Chromosome A2
SPANX Family Member A2 3     SPANXA3

External Ids:    HGNC: 112181   Entrez Gene: 300142   Ensembl: ENSG000001980217   OMIM: 3003055   UniProtKB: Q9NS263   

Export aliases for SPANXA1 gene to outside databases

Previous GC identifers: GC0XP135207 GC0XM137529 GC0XM138604 GC0XM139365 GC0XP139371 GC0XM140398 GC0XM140499


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for SPANXA1 Gene:
Temporally regulated transcription and translation of several testis-specific genes is required to initiate the
series of molecular and morphological changes in the male germ cell lineage necessary for the formation of mature
spermatozoa. This gene is a member of the SPANX family of cancer/testis-associated genes, which are located in a
cluster on chromosome X. The SPANX genes encode differentially expressed testis-specific proteins that localize
to various subcellular compartments. This particular gene maps to chromosome X in a head-to-head orientation with
SPANX family member A2, which appears to be a duplication of the A1 locus. The protein encoded by this gene
targets to the nucleus where it associates with nuclear vacuoles and the redundant nuclear envelope. Based on its
association with these poorly characterized regions of the sperm nucleus, this protein provides a biochemical
marker to study unique structures in spermatazoa while attempting to further define its role in spermatogenesis.
(provided by RefSeq, Jul 2008)

GeneCards Summary for SPANXA1 Gene:
SPANXA1 (sperm protein associated with the nucleus, X-linked, family member A1) is a protein-coding gene. An important paralog of this gene is SPANXA2.

Gene Wiki entry for SPANXA1 (Sperm protein associated with the nucleus, X-linked, family member A1) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000023.10  NC_018934.2  NT_011786.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the SPANXA1 gene promoter:
         STAT5B   Max1   STAT4   STAT6   STAT5A   STAT2   STAT3   c-Myc   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for SPANXA1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SPANXA1


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

Entrez Gene cytogenetic band: Xq27.1   Ensembl cytogenetic band:  Xq27.2   HGNC cytogenetic band: Xq27.2

SPANXA1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SPANXA1 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XM140671:  view genomic region     (about GC identifiers)

Start:
140,671,796 bp from pter      End:
140,673,133 bp from pter
Size:
1,338 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: SPNXA_HUMAN, Q9NS26 (See protein sequence)
Recommended Name: Sperm protein associated with the nucleus on the X chromosome A  
Size: 97 amino acids; 11038 Da
Developmental stage: Detected in round and elongating spermatids
Secondary accessions: Q5JWI0

Explore the universe of human proteins at neXtProt for SPANXA1: NX_Q9NS26

Explore proteomics data for SPANXA1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See SPANXA1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_038481.2  
    ENSEMBL proteins: 
     ENSP00000359550  

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    Search eBioscience for ELISAs for SPANXA1 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR010007 SPANX_prot

    Graphical View of Domain Structure for InterPro Entry Q9NS26

    ProtoNet protein and cluster: Q9NS26

    UniProtKB/Swiss-Prot: SPNXA_HUMAN, Q9NS26
    Similarity: Belongs to the SPAN-X family


    Find genes that share domains with SPANXA1           About GenesLikeMe


    (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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SPANXA1
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    SPNXA_HUMAN, Q9NS26: Cytoplasm. Nucleus. Note=Associated with nuclear craters
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol1

    Gene Ontology (GO): 2 cellular component terms:    About this table

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

    Find genes that share ontologies with SPANXA1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SPANXA1
    Interactions:

        Search GeneGlobe Interaction Network for SPANXA1

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007283spermatogenesis ----

    Find genes that share ontologies with SPANXA1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for SPANXA1 (SPNXA)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for SPANXA1 gene: 
    NM_013453.2  

    Unigene Cluster for SPANXA1:

    Sperm protein associated with the nucleus, X-linked, family member A1
    Hs.334464  [show with all ESTs]
    Unigene Representative Sequence: BF212177
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000370519(uc004fbn.3)
    miRNA
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    OriGene qPCR primer pairs and template standards for SPANXA1
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      QuantiTect SYBR Green Assays in human, mouse, rat SPANXA1
      QuantiFast Probe-based Assays in human, mouse, rat SPANXA1

    Additional mRNA sequence: 

    AF098306.1 BC069393.1 BC069816.1 

    3 DOTS entries:

    DT.121307159  DT.100036177  DT.101961078 

    Selected AceView cDNA sequences (see all 27):

    BX280141 CB121332 CB122914 AF098306 CB113891 CB115288 CB107410 NM_013453 
    BC069816 CB110020 AI208372 BV206967 AW444776 NM_145662 BV199311 CB114159 
    CB122922 BV199565 BC069393 CB121392 BF056463 BC062672 AI962751 CB108555 

    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    SPANXA1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    SPANXA1 Expression
    About this image


    SPANXA1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Testis (Reproductive System)
             Seminiferous Tubules
     
     Liver (Hepatobiliary System)
    SPANXA1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SPANXA1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.334464

    UniProtKB/Swiss-Prot: SPNXA_HUMAN, Q9NS26
    Tissue specificity: Detected in testis and sperm

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SPANXA1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of human and chimp.

    Orthologs for SPANXA1 gene from 1 species (see representative species )    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chimpanzee
    (Pan troglodytes)
    Mammalia --
    Pan troglodytes SPANX A/D member 3 (LOC493983), mR...
    57(a)
    1 → many
    GL393313.1(41016-41996)


    ENSEMBL Gene Tree for SPANXA1 (if available)
    TreeFam Gene Tree for SPANXA1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SPANXA1 gene
    SPANXA21 2  SPANXC1 2  SPANXD1 2  SPANXB11 2  SPANXB22  
    11 SIMAP similar genes for SPANXA1 using alignment to 1 protein entry:     SPNXA_HUMAN:
    SPANXA2    SPANXD    SPANXC    SPANXE    SPANXB1    SPANXB2
    SPANXF1    SPANXN5    SPANXN1    SPANXN2    SPANXN3

    Find genes that share paralogs with SPANXA1           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for SPANXA1 (see all 82)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1437855051,2
    --140739625(+) GAGGTC/TATTAA 1 -- ds50010--------
    rs1904465241,2
    --140739641(+) TAACAA/CATATT 1 -- ds50010--------
    rs1923843051,2
    --140739657(+) TGCATC/TGAACA 1 -- ds50010--------
    rs1843697181,2
    --140739868(+) CAGAAC/GTATGT 1 -- ds50010--------
    rs1385154271,2
    --140739875(+) ATGTGC/GTGCTG 1 -- ds50010--------
    rs1472373691,2
    --140739884(+) TGGGTA/GCAGTT 1 -- ds50010--------
    rs1390494631,2
    C--140740121(+) GCCATA/CAGCTT 1 -- ut310--------
    rs6101021,2
    C,A--140740140(+) TTATTG/TTCATT 1 -- ut312Minor allele frequency- T:0.25NA WA 4
    rs1380798561,2
    C,F--140740196(+) CAACCA/GTTATT 2 T M mis11Minor allele frequency- G:0.00NA 4548
    rs1425379481,2
    C,F--140740229(+) TTTGGA/TGGGGG 2 H L mis11Minor allele frequency- T:0.01NA 4488

    HapMap Linkage Disequilibrium report for SPANXA1 (140671796 - 140673133 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for SPANXA1 (see all 14):    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv469528CNV Loss16826518
    nsv470367CNV Loss18288195
    nsv470369CNV Gain18288195
    nsv9983CNV Gain18304495
    nsv471606CNV Gain15918152
    esv2752315CNV Gain17911159
    esv26320CNV Gain+Loss19812545
    nsv516880CNV Gain+Loss19592680
    essv9625CNV CNV17122850
    nsv515177CNV Complex21397061

    Site Specific Mutation Identification with PCR Assays
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    (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.)
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    OMIM gene information: 300305    OMIM disorders: --


    Find genes that share disorders with SPANXA1           About GenesLikeMe

    3 Novoseek inferred disease relationships for SPANXA1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    melanoma 47.4 5 18626316 (2), 19276289 (1), 12758128 (1)
    cancer 26.8 2 19276289 (1)
    tumors 9.27 10 19276289 (2), 12758128 (2), 11133693 (1)

    Genetic Association Database (GAD): SPANXA1
    Human Genome Epidemiology (HuGE) Navigator: SPANXA1 (1 document)

    Export disorders for SPANXA1 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 SPANXA1 gene, integrated from 10 sources (see all 16):
    (articles sorted by number of sources associating them with SPANXA1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Spermatid-specific expression of the novel X-linked gene product SPAN-X localized to the nucleus of human spermatozoa. (PubMed id 10906052)1, 2, 3, 9 Westbrook V.A.... Herr J.C. (Biol. Reprod. 2000)
    2. The human SPANX multigene family: genomic organization, alignment and expression in male germ cells and tumor cell lines. (PubMed id 12758128)1, 2, 9 Zendman A.J.... van Muijen G.N.P. (Gene 2003)
    3. Dynamic structure of the SPANX gene cluster mapped to the prostate cancer susceptibility locus HPCX at Xq27. (PubMed id 16251457)1, 2, 9 Kouprina N.... Larionov V. (Genome Res. 2005)
    4. SPANX gene variation in fertile and infertile males. (PubMed id 20073942)1, 4 Hansen S....Carrell D. (Syst Biol Reprod Med 2010)
    5. The DNA sequence of the human X chromosome. (PubMed id 15772651)1, 2 Ross M.T.... Bentley D.R. (Nature 2005)
    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. (Genome Res. 2004)
    7. Differential nuclear localization of the cancer/testis-associated protein, SPAN-X/CTp11, in transfected cells and in 50% of human spermatozoa. (PubMed id 11133693)1, 9 Westbrook V.A....Herr J.C. (Biol. Reprod. 2001)
    8. Expression of SpanX proteins in normal testes and in testicular germ cell tumours. (PubMed id 16390498)1 Salemi M....Vicari E. (Int. J. Androl. 2006)
    9. Genomic organization, incidence, and localization of the SPAN-x family of cancer-testis antigens in melanoma tumors and cell lines. (PubMed id 14734458)1 Westbrook V.A....Herr J.C. (Clin. Cancer Res. 2004)
    10. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 30014 HGNC: 11218 AceView: SPANXA1.1 Ensembl:ENSG00000198021 euGenes: HUgn30014
    ECgene: SPANXA1 H-InvDB: SPANXA1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for SPANXA1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for SPANXA1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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