FRAXA Gene
uncategorized GIFtS: 18
GCID: GC0XU990057
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fragile site, folic acid type, rare, fra(X)(q27.3) A (macroorchidism,...
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Aliases
for FRAXA gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
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| Aliases |
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| Fragile Site, Folic Acid Type, Rare, Fra(X)(Q27.3) A (Macroorchidism, MentalRetardation)1 2 | | FMR12 5 |
Export aliases for FRAXA gene to outside databases |
Summaries
for FRAXA gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
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Genomic Views
for FRAXA 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
| Regulatory elements:
 Search SABiosciences Regulatory transcription factor binding sites for FRAXA
Other transcription factors
Search SABiosciences Chromatin IP Primers for FRAXA
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FRAXA |
Genomic Location:
Chromosome:X
Entrez Gene cytogenetic band: Xq27.3 HGNC cytogenetic band: Xq27.3GeneLoc information about chromosome X |
Proteins
for FRAXA 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
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UniProtKB: --
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Protein
Domains /
Families
for FRAXA gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
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Function
for FRAXA 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
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Function Summary:
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 islandhypermethylated in patients (macroorchidism,mental retardation);see FMR1
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FRAXA |
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Pathways & Interactions
for FRAXA 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
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Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for FRAXA
|
Drugs & Compounds
for FRAXA 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
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 Browse Tocris compounds for FRAXA
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Transcripts
for FRAXA 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
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Expression
for FRAXA 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
| See probesets specificity/sensitivity at GeneAnnot
CGAP TAG: --
SABiosciences Custom PCR Arrays for FRAXA
Primer
Products: |  | Browse OriGene genome-wide validated SYBR primer pairs
Browse OriGene validated miRNA SYBR primer pairs
| | | Search SABiosciences RT2 qPCR
Primer Assays in human, mouse, rat FRAXA | | | Search QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat FRAXA | | | Search QIAGEN QuantiFast Probe-based Assays in human, mouse, rat FRAXA | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FRAXA |
Orthologs
for FRAXA 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)
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Paralogs
for FRAXA gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
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Genomic Variants
for FRAXA 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
| | SABiosciences Cancer Mutation PCR Assays |
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Disorders
/ Diseases
for FRAXA 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
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FRAXA for disorders About GeneDecksing
OMIM gene information: 309550
OMIM disorders: 300624 300623
9  diseases for FRAXA: About MalaCardsfragile x syndrome pervasive developmental disorder premature ovarian failure multiple system atrophy
tremor spinocerebellar ataxia ataxia parkinson's disease
cardiomyopathy
4 Novoseek disease relationships for FRAXA gene About this table
Genatlas disease: FRAXA fragile X syndrome,Martin Bell syndrome of mental retardation,and macroorchidism (premature ovarian failure in womencarrier of premutation)
Genetic Association Database (GAD): FRAXA
Human Genome Epidemiology (HuGE) Navigator: FRAXA (105 documents)
Export disorders for FRAXA gene to outside databases
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Publications
for FRAXA 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
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PubMed articles for FRAXA gene, integrated from 9 sources (see all 75):
(articles sorted by number of sources associating them with FRAXA) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- 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. (2005)
- Fragile X syndrome carrier screening in the prenatal genetic counseling setting. (PubMed id 15834242)1, 4 Cronister A....Hallam S. (2005)
- 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. (2005)
- Fragile X gene premutation in multiple system atrophy. (PubMed id 15546601)1, 4 Garland E.M....Robertson D. (2004)
- FRAXE intermediate alleles are associated with Parkinson's disease. (PubMed id 15342126)1, 4 Annesi G....Quattrone A. (2004)
- 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. (2004)
- Fragile X premutation alleles in SCA, ET, and parkinsonism in an Asian cohort. (PubMed id 15277639)1, 4 Tan E.K....Ng I.S. (2004)
- Fragile X syndrome: a clinico-genetic study of mentally retarded patients in Kuwait. (PubMed id 16201716)1, 4 Bastaki L.A....Naguib K.K. (2004)
- A step-wise diagnosis of fragile X syndrome in Taiwan. (PubMed id 15335113)1, 4 Huang Y.T....Hwu W.L. (2004)
- Observation of an excess of fragile-X premutations in a population of males referred with spinocerebellar ataxia. (PubMed id 12612802)1, 4 Macpherson J....Jacobs P. (2003)
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External Searches for FRAXA gene
(in PubMed,
OMIM, and NCBI Bookshelf)
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Genome Databases showing FRAXA gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
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Other Databases showing FRAXA gene
(According to HUGE)
About This Section
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Specialized Databases showing FRAXA 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
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| Name | Description |
| PharmGKB entry for FRAXA | Pharmacogenomics, SNPs, Pathways |
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About This Section
| 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
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Products
for FRAXA gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
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|  | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat FRAXA | | | Search QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing FRAXA | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FRAXA | | | Search QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat FRAXA | | | Search QIAGEN QuantiFast Probe-based Assays in human, mouse, rat FRAXA | | | Search QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat FRAXA |
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| | | | Search Tocris compounds for FRAXA |
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 | | | FRAXA Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FRAXA |
|  |  |  | | | | Search ThermoFisher Antibodies for FRAXA |
| | | Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat FRAXA |
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