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FMR1 (fragile X mental retardation 1)

Identity

Alias_namesPOF1
POF
premature ovarian failure 1
Alias_symbol (synonym)FMRP
FRAXA
MGC87458
HGNC (Hugo) FMR1
LocusID (NCBI) 2332
Atlas_Id 52309
Location Xq27.3  [Link to chromosome band Xq27]
Location_base_pair Starts at 146993469 and ends at 147032647 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
FMR1 (Xq27.3) / FMR1 (Xq27.3)HN1L (16p13.3) / FMR1 (Xq27.3)NAA25 (12q24.13) / FMR1 (Xq27.3)
TMEM207 (3q28) / FMR1 (Xq27.3)

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

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)FMR1   3775
LRG (Locus Reference Genomic)LRG_762
Cards
Entrez_Gene (NCBI)FMR1  2332  fragile X mental retardation 1
AliasesFMRP; FRAXA; POF; POF1
GeneCards (Weizmann)FMR1
Ensembl hg19 (Hinxton)ENSG00000102081 [Gene_View]  chrX:146993469-147032647 [Contig_View]  FMR1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000102081 [Gene_View]  chrX:146993469-147032647 [Contig_View]  FMR1 [Vega]
ICGC DataPortalENSG00000102081
TCGA cBioPortalFMR1
AceView (NCBI)FMR1
Genatlas (Paris)FMR1
WikiGenes2332
SOURCE (Princeton)FMR1
Genetics Home Reference (NIH)FMR1
Genomic and cartography
GoldenPath hg19 (UCSC)FMR1  -     chrX:146993469-147032647 +  Xq27.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)FMR1  -     Xq27.3   [Description]    (hg38-Dec_2013)
EnsemblFMR1 - Xq27.3 [CytoView hg19]  FMR1 - Xq27.3 [CytoView hg38]
Mapping of homologs : NCBIFMR1 [Mapview hg19]  FMR1 [Mapview hg38]
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)NC_000023 NC_018934 NG_007529 NT_011681 NW_004929447
Consensus coding sequences : CCDS (NCBI)FMR1
Cluster EST : UnigeneHs.103183 [ NCBI ]
CGAP (NCI)Hs.103183
Alternative Splicing GalleryENSG00000102081
Gene ExpressionFMR1 [ NCBI-GEO ]   FMR1 [ EBI - ARRAY_EXPRESS ]   FMR1 [ SEEK ]   FMR1 [ MEM ]
Gene Expression Viewer (FireBrowse)FMR1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)2332
GTEX Portal (Tissue expression)FMR1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ06787   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ06787  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ06787
Splice isoforms : SwissVarQ06787
PhosPhoSitePlusQ06787
Domaine pattern : Prosite (Expaxy)AGENET_LIKE (PS51641)    KH_TYPE_1 (PS50084)   
Domains : Interpro (EBI)Agenet-like_dom    FXMR_C2    FXMRP1_C_core    KH_dom    KH_dom_type_1   
Domain families : Pfam (Sanger)Agenet (PF05641)    FXMR_C2 (PF16098)    FXMRP1_C_core (PF12235)    KH_1 (PF00013)   
Domain families : Pfam (NCBI)pfam05641    pfam16098    pfam12235    pfam00013   
Domain families : Smart (EMBL)KH (SM00322)  
Conserved Domain (NCBI)FMR1
DMDM Disease mutations2332
Blocks (Seattle)FMR1
PDB (SRS)2BKD    2FMR    2LA5    2QND    4OVA    4QVZ    4QW2    5DE5    5DE8    5DEA   
PDB (PDBSum)2BKD    2FMR    2LA5    2QND    4OVA    4QVZ    4QW2    5DE5    5DE8    5DEA   
PDB (IMB)2BKD    2FMR    2LA5    2QND    4OVA    4QVZ    4QW2    5DE5    5DE8    5DEA   
PDB (RSDB)2BKD    2FMR    2LA5    2QND    4OVA    4QVZ    4QW2    5DE5    5DE8    5DEA   
Structural Biology KnowledgeBase2BKD    2FMR    2LA5    2QND    4OVA    4QVZ    4QW2    5DE5    5DE8    5DEA   
SCOP (Structural Classification of Proteins)2BKD    2FMR    2LA5    2QND    4OVA    4QVZ    4QW2    5DE5    5DE8    5DEA   
CATH (Classification of proteins structures)2BKD    2FMR    2LA5    2QND    4OVA    4QVZ    4QW2    5DE5    5DE8    5DEA   
SuperfamilyQ06787
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
STRING (EMBL)FMR1
ZODIACFMR1
Ontologies - Pathways
QuickGOQ06787
Ontology : AmiGOregulation of alternative mRNA splicing, via spliceosome  G-quadruplex RNA binding  RNA binding  mRNA binding  mRNA 3'-UTR binding  protein binding  nucleus  nucleus  nucleoplasm  nucleolus  nucleolus  cytoplasm  cytoplasm  polysome  polysome  mRNA cap binding complex  glutamate receptor signaling pathway  microtubule binding  poly(U) RNA binding  postsynaptic density  Cajal body  membrane  negative regulation of translation  extrinsic component of plasma membrane  translation repressor activity  axon  dendrite  growth cone  intracellular ribonucleoprotein complex  translation initiation factor binding  SMN complex  RNA strand annealing activity  poly(G) binding  siRNA binding  miRNA binding  RNA stem-loop binding  cytoplasmic ribonucleoprotein granule  polysomal ribosome  identical protein binding  protein homodimerization activity  cell projection  neuron projection  ribosome binding  dendritic spine  dendritic shaft  perikaryon  perikaryon  regulation of mRNA stability  axon terminus  poly(A) RNA binding  dynein binding  positive regulation of translation  negative regulation of translational initiation  regulation of neurotransmitter secretion  protein heterodimerization activity  mRNA 5'-UTR binding  perinuclear region of cytoplasm  mRNA transport  positive regulation of filopodium assembly  positive regulation of dendritic spine development  neuronal ribonucleoprotein granule  glial cell projection  presynapse  postsynapse  negative regulation of long term synaptic depression  negative regulation of voltage-gated calcium channel activity  positive regulation of proteasomal protein catabolic process  dendritic filopodium  sequence-specific mRNA binding  ribonucleoprotein complex  negative regulation of synaptic vesicle exocytosis  positive regulation of gene silencing by miRNA  negative regulation of cytoplasmic translation  
Ontology : EGO-EBIregulation of alternative mRNA splicing, via spliceosome  G-quadruplex RNA binding  RNA binding  mRNA binding  mRNA 3'-UTR binding  protein binding  nucleus  nucleus  nucleoplasm  nucleolus  nucleolus  cytoplasm  cytoplasm  polysome  polysome  mRNA cap binding complex  glutamate receptor signaling pathway  microtubule binding  poly(U) RNA binding  postsynaptic density  Cajal body  membrane  negative regulation of translation  extrinsic component of plasma membrane  translation repressor activity  axon  dendrite  growth cone  intracellular ribonucleoprotein complex  translation initiation factor binding  SMN complex  RNA strand annealing activity  poly(G) binding  siRNA binding  miRNA binding  RNA stem-loop binding  cytoplasmic ribonucleoprotein granule  polysomal ribosome  identical protein binding  protein homodimerization activity  cell projection  neuron projection  ribosome binding  dendritic spine  dendritic shaft  perikaryon  perikaryon  regulation of mRNA stability  axon terminus  poly(A) RNA binding  dynein binding  positive regulation of translation  negative regulation of translational initiation  regulation of neurotransmitter secretion  protein heterodimerization activity  mRNA 5'-UTR binding  perinuclear region of cytoplasm  mRNA transport  positive regulation of filopodium assembly  positive regulation of dendritic spine development  neuronal ribonucleoprotein granule  glial cell projection  presynapse  postsynapse  negative regulation of long term synaptic depression  negative regulation of voltage-gated calcium channel activity  positive regulation of proteasomal protein catabolic process  dendritic filopodium  sequence-specific mRNA binding  ribonucleoprotein complex  negative regulation of synaptic vesicle exocytosis  positive regulation of gene silencing by miRNA  negative regulation of cytoplasmic translation  
Pathways : KEGGRNA transport   
NDEx NetworkFMR1
Atlas of Cancer Signalling NetworkFMR1
Wikipedia pathwaysFMR1
Orthology - Evolution
OrthoDB2332
GeneTree (enSembl)ENSG00000102081
Phylogenetic Trees/Animal Genes : TreeFamFMR1
HOVERGENQ06787
HOGENOMQ06787
Homologs : HomoloGeneFMR1
Homology/Alignments : Family Browser (UCSC)FMR1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerFMR1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)FMR1
dbVarFMR1
ClinVarFMR1
1000_GenomesFMR1 
Exome Variant ServerFMR1
ExAC (Exome Aggregation Consortium)FMR1 (select the gene name)
Genetic variants : HAPMAP2332
Genomic Variants (DGV)FMR1 [DGVbeta]
DECIPHER (Syndromes)X:146993469-147032647  ENSG00000102081
CONAN: Copy Number AnalysisFMR1 
Mutations
ICGC Data PortalFMR1 
TCGA Data PortalFMR1 
Broad Tumor PortalFMR1
OASIS PortalFMR1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICFMR1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDFMR1
intOGen PortalFMR1
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
BioMutasearch FMR1
DgiDB (Drug Gene Interaction Database)FMR1
DoCM (Curated mutations)FMR1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)FMR1 (select a term)
intoGenFMR1
Cancer3DFMR1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM300623    300624    309550    311360   
Orphanet120    19880    23616    12199   
MedgenFMR1
Genetic Testing Registry FMR1
NextProtQ06787 [Medical]
TSGene2332
GENETestsFMR1
Huge Navigator FMR1 [HugePedia]
snp3D : Map Gene to Disease2332
BioCentury BCIQFMR1
ClinGenFMR1 (curated)
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD2332
Chemical/Pharm GKB GenePA28191
Clinical trialFMR1
Miscellaneous
canSAR (ICR)FMR1 (select the gene name)
Probes
Litterature
PubMed499 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineFMR1
EVEXFMR1
GoPubMedFMR1
iHOPFMR1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri Nov 18 19:37:39 CET 2016

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