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FRAXA Locus

genetic locus   GIFtS: 17
GCID: GC0XU990057

Fragile Site, Folic Acid Type, Rare, Fra(X)(Q27.3) A (Macroorchidism,...

  See FRAXA-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)
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Aliases
Fragile Site, Folic Acid Type, Rare, Fra(X)(Q27.3) A (Macroorchidism,
Mental Retardation)1 2
FMR12 5
POF15

External Ids:    HGNC: 39451   Entrez Gene: 24772   OMIM: 3095505   

Export aliases for FRAXA 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 FRAXA Gene:
FRAXA (fragile site, folic acid type, rare, fra(X)(q27.3) A (macroorchidism, mental retardation)) is a genetic locus. Diseases associated with FRAXA include fragile x-associated tremor/ataxia syndrome, and fragile x syndrome.


(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 FRAXA
         Other transcription factors

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


Genomic Location:
Chromosome:X   

Entrez Gene cytogenetic band: Xq27.3   HGNC cytogenetic band: Xq27.3

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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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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, 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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Molecular Function:
     Genatlas biochemistry entry for FRAXA:
fragile site,folic acid type,rare,fra(X)(q27.3),with polymorphic CGG repeat located in exon 1, and a 5' CpG island
hypermethylated in patients (macroorchidism,mental retardation);see FMR1

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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,
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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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: --

FRAXA 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 FRAXA
DNA2.0 Custom Variant and Variant Library Synthesis for FRAXA

(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: 309550   
OMIM disorders: 300624  300623  311360  
4 diseases for FRAXA:    
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fragile x-associated tremor/ataxia syndrome    fragile x syndrome    fragile x-associated primary ovarian insufficiency    pervasive developmental disorder


Find genes that share disorders with FRAXA           About GenesLikeMe

4 Novoseek inferred disease relationships for FRAXA gene    About this table

Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
fragile x syndrome 93.7 24 15639835 (2), 10799273 (2), 1760838 (1), 14505067 (1) (see all 20)
mental retardation 85.9 22 8033209 (3), 10850542 (2), 10799273 (2), 14505067 (1) (see all 16)
macrocephaly 63.2 2 9863601 (2)
genetic disorder 17 2 11901818 (1), 16010677 (1)

Genatlas disease: FRAXA
fragile X syndrome,Martin Bell syndrome of mental retardation,and macroorchidism (premature ovarian failure in
women carrier of premutation)

Genetic Association Database (GAD): FRAXA
Human Genome Epidemiology (HuGE) Navigator: FRAXA (105 documents)

Export disorders for FRAXA 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 FRAXA gene, integrated from 10 sources (see all 76):
(articles sorted by number of sources associating them with FRAXA)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Haplotype analysis at the FRAXA locus in an Indian population. (PubMed id 18627041)1, 4 Chakraborty S.S....Dasgupta U.B. (Am. J. Med. Genet. A 2008)
  2. Mutation screening of the MECP2 gene in a large cohort of 613 fragile-X negative patients with mental retardation. (PubMed id 17383248)1, 4 Lesca G....Calender A. (Eur J Med Genet 2007)
  3. An investigation of FRAXA intermediate allele phenotype in a longitudinal sample. (PubMed id 16626328)1, 4 Ennis S....Jacobs P.A. (Ann. Hum. Genet. 2006)
  4. Validity of analysis of FMRP expression in blood smears as a screening test for Fragile X Syndrome in the Indian population. (PubMed id 15900569)1, 4 Ravindran M.S....Babu S. (J. Clin. Lab. Anal. 2005)
  5. Fragile X syndrome carrier screening in the prenatal genetic counseling setting. (PubMed id 15834242)1, 4 Cronister A....Hallam S. (Genet. Med. 2005)
  6. Prevalence of the FMR1 mutation in Taiwan assessed by large-scale screening of newborn boys and analysis of DXS548-FRAXAC1 haplotype. (PubMed id 15637705)1, 4 Tzeng C.C....Lu C.L. (Am. J. Med. Genet. A 2005)
  7. Fragile X gene premutation in multiple system atrophy. (PubMed id 15546601)1, 4 Garland E.M....Robertson D. (J. Neurol. Sci. 2004)
  8. FRAXE intermediate alleles are associated with Parkinson's disease. (PubMed id 15342126)1, 4 Annesi G....Quattrone A. (Neurosci. Lett. 2004)
  9. Five years of molecular diagnosis of Fragile X syndrome (1997-2001): a collaborative study reporting 95% of the activity in France. (PubMed id 15326620)1, 4 Biancalana V....Mandel J.L. (Am. J. Med. Genet. A 2004)
  10. Fragile X premutation alleles in SCA, ET, and parkinsonism in an Asian cohort. (PubMed id 15277639)1, 4 Tan E.K....Ng I.S. (Neurology 2004)

(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: 2477 HGNC: 3945 euGenes: HUgn2477 ECgene: FRAXA H-InvDB: FRAXA

(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 FRAXA 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 FRAXA gene:
Search GeneIP for patents involving FRAXA

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, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, 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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