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FMR1 (fragile X mental retardation 1)

Identity

Other namesFMRP
FRAXA
POF
POF1
HGNC (Hugo) FMR1
LocusID (NCBI) 2332
Location Xq27.3
Location_base_pair Starts at 146993469 and ends at 147032647 bp from pter ( according to hg19-Feb_2009)
Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

External links

Nomenclature
HGNC (Hugo)FMR1   3775
Cards
Entrez_Gene (NCBI)FMR1  2332  fragile X mental retardation 1
GeneCards (Weizmann)FMR1
Ensembl (Hinxton)ENSG00000102081 [Gene_View]  chrX:146993469-147032647 [Contig_View]  FMR1 [Vega]
ICGC DataPortalENSG00000102081
AceView (NCBI)FMR1
Genatlas (Paris)FMR1
WikiGenes2332
SOURCE (Princeton)NM_001185075 NM_001185076 NM_001185081 NM_001185082 NM_002024
Genomic and cartography
GoldenPath (UCSC)FMR1  -  Xq27.3   chrX:146993469-147032647 +  Xq27.3   [Description]    (hg19-Feb_2009)
EnsemblFMR1 - Xq27.3 [CytoView]
Mapping of homologs : NCBIFMR1 [Mapview]
OMIM300623   300624   309550   311360   
Gene and transcription
Genbank (Entrez)AB209188 AK294104 AK302707 BC038998 BC086957
RefSeq transcript (Entrez)NM_001185075 NM_001185076 NM_001185081 NM_001185082 NM_002024
RefSeq genomic (Entrez)AC_000155 NC_000023 NC_018934 NG_007529 NT_011681 NW_001842411 NW_004929447
Consensus coding sequences : CCDS (NCBI)FMR1
Cluster EST : UnigeneHs.103183 [ NCBI ]
CGAP (NCI)Hs.103183
Alternative Splicing : Fast-db (Paris)GSHG0031863
Alternative Splicing GalleryENSG00000102081
Gene ExpressionFMR1 [ NCBI-GEO ]     FMR1 [ SEEK ]   FMR1 [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ06787 (Uniprot)
NextProtQ06787  [Medical]
With graphics : InterProQ06787
Splice isoforms : SwissVarQ06787 (Swissvar)
Domaine pattern : Prosite (Expaxy)AGENET_LIKE (PS51641)    KH_TYPE_1 (PS50084)   
Domains : Interpro (EBI)Agenet-like_dom    Frag_X_MRP_fam    KH_dom    KH_dom_type_1   
Related proteins : CluSTrQ06787
Domain families : Pfam (Sanger)Agenet (PF05641)    FXR1P_C (PF12235)    KH_1 (PF00013)   
Domain families : Pfam (NCBI)pfam05641    pfam12235    pfam00013   
Domain families : Smart (EMBL)KH (SM00322)  
DMDM Disease mutations2332
Blocks (Seattle)Q06787
PDB (SRS)2BKD    2FMR    2LA5    2QND   
PDB (PDBSum)2BKD    2FMR    2LA5    2QND   
PDB (IMB)2BKD    2FMR    2LA5    2QND   
PDB (RSDB)2BKD    2FMR    2LA5    2QND   
Human Protein AtlasENSG00000102081
Peptide AtlasQ06787
HPRD02398
IPIIPI00412343   IPI00215720   IPI00215721   IPI00215723   IPI00215724   IPI00215725   IPI00783298   IPI00645666   IPI00983464   IPI00981488   IPI00872761   IPI00937480   
Protein Interaction databases
DIP (DOE-UCLA)Q06787
IntAct (EBI)Q06787
FunCoupENSG00000102081
BioGRIDFMR1
InParanoidQ06787
Interologous Interaction database Q06787
IntegromeDBFMR1
STRING (EMBL)FMR1
Ontologies - Pathways
Ontology : AmiGORNA binding  mRNA binding  protein binding  nucleoplasm  nucleolus  cytoplasm  cytoplasm  mRNA cap binding complex  central nervous system development  cytoplasmic stress granule  membrane  cytoplasmic ribonucleoprotein granule  polysomal ribosome  dendritic spine  dendritic shaft  poly(A) RNA binding  synapse  negative regulation of translational initiation  mRNA transport  neuronal ribonucleoprotein granule  
Ontology : EGO-EBIRNA binding  mRNA binding  protein binding  nucleoplasm  nucleolus  cytoplasm  cytoplasm  mRNA cap binding complex  central nervous system development  cytoplasmic stress granule  membrane  cytoplasmic ribonucleoprotein granule  polysomal ribosome  dendritic spine  dendritic shaft  poly(A) RNA binding  synapse  negative regulation of translational initiation  mRNA transport  neuronal ribonucleoprotein granule  
Pathways : KEGGRNA transport   
Protein Interaction DatabaseFMR1
Wikipedia pathwaysFMR1
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)FMR1
SNP (GeneSNP Utah)FMR1
SNP : HGBaseFMR1
Genetic variants : HAPMAPFMR1
1000_GenomesFMR1 
ICGC programENSG00000102081 
CONAN: Copy Number AnalysisFMR1 
Somatic Mutations in Cancer : COSMICFMR1 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)X-chromosome gene database
Mutations and Diseases : HGMDFMR1
OMIM300623    300624    309550    311360   
MedgenFMR1
GENETestsFMR1
Disease Genetic AssociationFMR1
Huge Navigator FMR1 [HugePedia]  FMR1 [HugeCancerGEM]
Genomic VariantsFMR1  FMR1 [DGVbeta]
Exome VariantFMR1
dbVarFMR1
ClinVarFMR1
snp3D : Map Gene to Disease2332
General knowledge
Homologs : HomoloGeneFMR1
Homology/Alignments : Family Browser (UCSC)FMR1
Phylogenetic Trees/Animal Genes : TreeFamFMR1
Chemical/Protein Interactions : CTD2332
Chemical/Pharm GKB GenePA28191
Clinical trialFMR1
Cancer Resource (Charite)ENSG00000102081
Other databases
Probes
Litterature
PubMed414 Pubmed reference(s) in Entrez
CoreMineFMR1
iHOPFMR1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Oct 13 12:46:53 CEST 2014

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