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FRAXE Locus

genetic locus   GIFtS: 17
GCID: GC0XU990061

Fragile Site, Folic Acid Type, Rare, Fra(X)(Q28) E

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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
Fragile Site, Folic Acid Type, Rare, Fra(X)(Q28) E1 2
FMR22 5
AFF25
MRX25

External Ids:    HGNC: 39491   Entrez Gene: 24812   OMIM: 3008065   

Export aliases for FRAXE gene to outside databases


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for FRAXE Gene:
FRAXE (fragile site, folic acid type, rare, fra(X)(q28) E) is a genetic locus. Diseases associated with FRAXE include fragile xe syndrome, and x-linked disease.


(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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Regulatory elements:
   Search for regulatory transcription factor binding sites for FRAXE
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidFRAXE promoter sequence
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Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat FRAXE


Genomic Location:
Chromosome:X   

Entrez Gene cytogenetic band: Xq28   HGNC cytogenetic band: Xq28

GeneLoc information about chromosome X        


(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, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB: --


(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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  --

(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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:
     Genatlas biochemistry entry for FRAXE:
fragile site,folic acid type,rare,fra(X)(q28) with polymorphic GCC (CGG) repeat

Animal Models:
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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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  --

(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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Interactions:

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(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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(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,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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miRNA
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(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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See probesets specificity/sensitivity at GeneAnnot
CGAP TAG: --

FRAXE Protein expression data from MOPED1, PaxDb2 and MaxQB3 --
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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)
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  --

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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  --

(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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Site Specific Mutation Identification with PCR Assays
Search QIAGEN SeqTarget long-range PCR primers for resequencing FRAXE
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(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.)
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OMIM gene information: 300806   
OMIM disorders: 309548  
12 diseases for FRAXE:    
About MalaCards
fragile xe syndrome    x-linked disease    fragile x syndrome    intellectual disability
premature ovarian failure    pervasive developmental disorder    non-specific x-linked mental retardation    mental retardation, x-linked
mental retardation    parkinson's disease    multiple myeloma    myeloma


FRAXE for disorders           About GeneDecksing


Congresses - knowledge worth sharing:
Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

2 Novoseek inferred disease relationships for FRAXE gene    About this table

Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
fragile x syndrome 70.2 4 11462240 (1), 9415473 (1), 14526173 (1)
mental retardation 61.7 10 11246464 (3), 14526173 (3), 10780779 (1)

Genatlas disease: FRAXE
mental retardation,X-linked,mild,associated with fragile site FRAXE and loss of FMR2 expression correlated with
FRAXE expression

Genetic Association Database (GAD): FRAXE
Human Genome Epidemiology (HuGE) Navigator: FRAXE (11 documents)

Export disorders for FRAXE 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 FRAXE gene, integrated from 10 sources (see all 22):
(articles sorted by number of sources associating them with FRAXE)
    Utopia: connect your pdf to the dynamic
world of online information

  1. [Polymorphism of CGG repeats in the FRAXE fragile site in the Qinba Mountain area children and its association with intelligence]. (PubMed id 17035177)1, 4 Niu Y.B....Zhang F.C. (Yi Chuan 2006)
  2. Fragile X syndrome: a clinico-genetic study of mentally retarded patients in Kuwait. (PubMed id 16201716)1, 4 Bastaki L.A....Naguib K.K. (East. Mediterr. Health J. 2004)
  3. FRAXE intermediate alleles are associated with Parkinson's disease. (PubMed id 15342126)1, 4 Annesi G....Quattrone A. (Neurosci. Lett. 2004)
  4. Genetic and neurological evaluation in a sample of individuals with pervasive developmental disorders. (PubMed id 12806492)1, 4 Steiner C.E....Marques-de-Faria A.P. (Arq Neuropsiquiatr 2003)
  5. [Polymorphism of trinucleotide repeats at loci FRAXA and FRAXE in the population of Tomsk]. (PubMed id 11898618)1, 4 Tolmacheva E.N. and Nazarenko S.A. (Genetika 2002)
  6. Three families with high expression of a fragile site at Xq27.3, lack of anomalies at the FMR-1 CpG island, and no clear phenotypic association. (PubMed id 1605195)1, 3 OberlAc I....Mandel J.L. (Am. J. Med. Genet. 1992)
  7. Familial intellectual disability and autistic behavior caused by a small FMR2 gene deletion. (PubMed id 21739600)1 Stettner G.M.... Auber B. (Am. J. Med. Genet. A 2011)
  8. Intermediate alleles at the FRAXA and FRAXE loci in Parkinson's disease. (PubMed id 21257332)1 Costa A....Pintado E. (amp 2011)
  9. A late origin of DNA replication in the trinucleotide repeat region of the human FMR2 gene. (PubMed id 16582587)1 Chastain P.D....Kaufman D.G. (Cell Cycle 2006)
  10. Large domains of apparent delayed replication timing associated with triplet repeat expansion at FRAXA and FRAXE. (PubMed id 8755928)4 Subramanian P.S....Chinault A.C. (Am. J. Hum. Genet. 1996)

(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: 2481 HGNC: 3949 euGenes: HUgn2481 ECgene: FRAXE H-InvDB: FRAXE

(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 FRAXE 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 FRAXE gene:
Search GeneIP for patents involving FRAXE

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



(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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