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Aliases for FRAXA Gene

Aliases for FRAXA Gene

  • Fragile Site, Folic Acid Type, Rare, Fra(X)(Q27.3) A (Macroorchidism, Mental Retardation) 2 3
  • Fragile Site, Folic Acid Type, Rare, Fra(X)(Q27.3), (Macroorchidism, Mental Retardation) 3
  • FMR1 3

External Ids for FRAXA Gene

Summaries for FRAXA Gene

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 Syndrome.

No data available for Entrez Gene Summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FRAXA Gene

Genomics for FRAXA Gene

Genomic Location for FRAXA Gene

Chromosome:
X
Orientation:
Unknown strand

Genomic View for FRAXA Gene


Cytogenetic band:
GeneLoc Logo Gene Density

No data available for Regulatory Elements and RefSeq DNA sequence for FRAXA Gene

Proteins for FRAXA Gene

Post-translational modifications for FRAXA Gene

No Post-translational modifications

No data available for DME Specific Peptides for FRAXA Gene

Domains & Families for FRAXA Gene

Graphical View of Domain Structure for InterPro Entry

No data available for Gene Families , Protein Domains , Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for FRAXA Gene

Function for FRAXA Gene

Molecular function for FRAXA Gene

GENATLAS Biochemistry:
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

Animal Model Products

miRNA for FRAXA Gene

miRTarBase miRNAs that target FRAXA

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Phenotypes , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for FRAXA Gene

Localization for FRAXA Gene

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from COMPARTMENTS and Gene Ontology (GO) - Cellular Components for FRAXA Gene

Pathways & Interactions for FRAXA Gene

SuperPathways for FRAXA Gene

No Data Available

Interacting Proteins for FRAXA Gene

Gene Ontology (GO) - Biological Process for FRAXA Gene

None

No data available for Pathways by source and SIGNOR curated interactions for FRAXA Gene

Drugs & Compounds for FRAXA Gene

(11) Drugs for FRAXA Gene - From: ClinicalTrials

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Lovastatin Approved, Investigational Pharma Competitive, Inhibitor HMG-CoA reductase inhibitor, Potent HMG-CoA reductase inhibitor 62
Minocycline Approved, Investigational Pharma 224
Anti-Bacterial Agents Pharma 10884
Anticholesteremic Agents Pharma 1983
Anti-Infective Agents Pharma 21402
genes like me logo Genes that share compounds with FRAXA: view

Transcripts for FRAXA Gene

Alternative Splicing Database (ASD) splice patterns (SP) for FRAXA Gene

No ASD Table

Relevant External Links for FRAXA Gene

ECgene alternative splicing isoforms for
FRAXA

No data available for mRNA/cDNA for FRAXA Gene

Expression for FRAXA Gene

NURSA nuclear receptor signaling pathways regulating expression of FRAXA Gene:

FRAXA
No Expression Related Data Available

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for FRAXA Gene

Orthologs for FRAXA Gene

No data available for Orthologs and Evolution for FRAXA Gene

Paralogs for FRAXA Gene

No data available for Paralogs for FRAXA Gene

Variants for FRAXA Gene

Relevant External Links for FRAXA Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
FRAXA

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Sequence variations from dbSNP and Humsavar , Structural Variations from Database of Genomic Variants (DGV) and Variation tolerance for FRAXA Gene

Disorders for FRAXA Gene

MalaCards: The human disease database

(1) MalaCards diseases for FRAXA Gene - From: Novoseek and GeneCards

Disorder Aliases PubMed IDs
fragile x syndrome
  • fragile x mental retardation syndrome
- elite association - COSMIC cancer census association via MalaCards
Search FRAXA in MalaCards View complete list of genes associated with diseases

Genatlas disease for FRAXA Gene

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

Relevant External Links for FRAXA

Genetic Association Database (GAD)
FRAXA
Human Genome Epidemiology (HuGE) Navigator
FRAXA
genes like me logo Genes that share disorders with FRAXA: view

No data available for UniProtKB/Swiss-Prot for FRAXA Gene

Publications for FRAXA Gene

  1. Haplotype analysis at the FRAXA locus in an Indian population. (PMID: 18627041) Chakraborty S.S. … Dasgupta U.B. (Am. J. Med. Genet. A 2008) 3 46 64
  2. Mutation screening of the MECP2 gene in a large cohort of 613 fragile-X negative patients with mental retardation. (PMID: 17383248) Lesca G. … Calender A. (Eur J Med Genet 2007) 3 46 64
  3. An investigation of FRAXA intermediate allele phenotype in a longitudinal sample. (PMID: 16626328) Ennis S. … Jacobs P.A. (Ann. Hum. Genet. 2006) 3 46 64
  4. Prevalence of the FMR1 mutation in Taiwan assessed by large-scale screening of newborn boys and analysis of DXS548-FRAXAC1 haplotype. (PMID: 15637705) Tzeng C.C. … Lu C.L. (Am. J. Med. Genet. A 2005) 3 46 64
  5. Fragile X syndrome carrier screening in the prenatal genetic counseling setting. (PMID: 15834242) Cronister A. … Hallam S. (Genet. Med. 2005) 3 46 64

Products for FRAXA Gene

Sources for FRAXA Gene

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