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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
  • FMR1 3 6
  • Fragile Site, Folic Acid Type, Rare, Fra(X)(Q27.3), (Macroorchidism, Mental Retardation) 3
  • POF1 6

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 tremor/ataxia syndrome and premature ovarian failure 1. Among its related pathways are Translational Control and Neuroscience.

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

Unknown strand

Genomic View for FRAXA Gene

Cytogenetic band:

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 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

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Phenotypes , Animal Models , miRNA , 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 for FRAXA Gene

genes like me logo Genes that share pathways with FRAXA: view

Pathways by source for FRAXA Gene

2 Cell Signaling Technology pathways for FRAXA Gene
1 KEGG pathway for FRAXA Gene

Interacting Proteins for FRAXA Gene

Gene Ontology (GO) - Biological Process for FRAXA Gene


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

No data available for mRNA/cDNA for FRAXA Gene

Expression for FRAXA Gene

No Expression Related Data Available

Primer Products

In Situ Assay Products

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 , mRNA Expression by UniProt/SwissProt and Expression partners 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

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 Relevant External Links for FRAXA Gene

Disorders for FRAXA Gene

(3) OMIM Diseases for FRAXA Gene (309550)

(4) Novoseek inferred disease relationships for FRAXA Gene

Disease -log(P) Hits PubMed IDs
fragile x syndrome 93.7 22
mental retardation 85.9 20
macrocephaly 63.2 2
genetic disorder 17 2

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

No data available for UniProtKB/Swiss-Prot and University of Copenhagen DISEASES for FRAXA Gene

Publications for FRAXA Gene

  1. Haplotype analysis at the FRAXA locus in Thai subjects. (PMID: 11169559) Limprasert P. … Brown W.T. (Am. J. Med. Genet. 2001) 3 48
  2. Longitudinal study of the carrier testing process for fragile X syndrome: perceptions and coping. (PMID: 11426454) McConkie-Rosell A. … Lachiewicz A.M. (Am. J. Med. Genet. 2001) 3 48
  3. Is the 31 CAG repeat allele of the spinocerebellar ataxia 1 (SCA1) gene locus non-specifically associated with trinucleotide expansion diseases? (PMID: 11807410) SaviA8 D. … Romac S. (Psychiatr. Genet. 2001) 3 48
  4. [Polymorphism of trinucleotide repeats at loci FRAXA and FRAXE in the population of Tomsk]. (PMID: 11898618) Tolmacheva E.N. … Nazarenko S.A. (Genetika 2002) 3 48
  5. Genetic and neurological evaluation in a sample of individuals with pervasive developmental disorders. (PMID: 12806492) Steiner C.E. … Marques-de-Faria A.P. (Arq Neuropsiquiatr 2003) 3 48

Products for FRAXA Gene

Sources for FRAXA Gene

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