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FXR1 (FMR1 autosomal homolog 1)

Identity

Alias_namesfragile X mental retardation
Other aliasFXR1P
HGNC (Hugo) FXR1
LocusID (NCBI) 8087
Atlas_Id 47559
Location 3q26.33  [Link to chromosome band 3q26]
Location_base_pair Starts at 180630234 and ends at 180700539 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
C18orf25 (18q21.1) / FXR1 (3q26.33)FXR1 (3q26.33) / BRAF (7q34)FXR1 (3q26.33) / C6orf106 (6p21.31)
FXR1 (3q26.33) / CTSA (20q13.12)FXR1 (3q26.33) / KLHL24 (3q27.1)FXR1 (3q26.33) / RIMS2 (8q22.3)
FXR1 (3q26.33) / USP13 (3q26.33)IGFBP2 (2q35) / FXR1 (3q26.33)FXR1 3q26.33 / RIMS2 8q22.3

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)FXR1   4023
Cards
Entrez_Gene (NCBI)FXR1  8087  FMR1 autosomal homolog 1
AliasesFXR1P
GeneCards (Weizmann)FXR1
Ensembl hg19 (Hinxton)ENSG00000114416 [Gene_View]  chr3:180630234-180700539 [Contig_View]  FXR1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000114416 [Gene_View]  chr3:180630234-180700539 [Contig_View]  FXR1 [Vega]
ICGC DataPortalENSG00000114416
TCGA cBioPortalFXR1
AceView (NCBI)FXR1
Genatlas (Paris)FXR1
WikiGenes8087
SOURCE (Princeton)FXR1
Genetics Home Reference (NIH)FXR1
Genomic and cartography
GoldenPath hg19 (UCSC)FXR1  -     chr3:180630234-180700539 +  3q26.33   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)FXR1  -     3q26.33   [Description]    (hg38-Dec_2013)
EnsemblFXR1 - 3q26.33 [CytoView hg19]  FXR1 - 3q26.33 [CytoView hg38]
Mapping of homologs : NCBIFXR1 [Mapview hg19]  FXR1 [Mapview hg38]
OMIM600819   
Gene and transcription
Genbank (Entrez)AF075028 AK225334 AK292633 AK294603 AK297254
RefSeq transcript (Entrez)NM_001013438 NM_001013439 NM_005087
RefSeq genomic (Entrez)NC_000003 NC_018914 NT_005612 NW_004929311
Consensus coding sequences : CCDS (NCBI)FXR1
Cluster EST : UnigeneHs.478407 [ NCBI ]
CGAP (NCI)Hs.478407
Alternative Splicing GalleryENSG00000114416
Gene ExpressionFXR1 [ NCBI-GEO ]   FXR1 [ EBI - ARRAY_EXPRESS ]   FXR1 [ SEEK ]   FXR1 [ MEM ]
Gene Expression Viewer (FireBrowse)FXR1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)8087
GTEX Portal (Tissue expression)FXR1
Protein : pattern, domain, 3D structure
UniProt/SwissProtP51114   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP51114  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP51114
Splice isoforms : SwissVarP51114
PhosPhoSitePlusP51114
Domaine pattern : Prosite (Expaxy)AGENET_LIKE (PS51641)    KH_TYPE_1 (PS50084)   
Domains : Interpro (EBI)Agenet-like_dom    FXMRP1_C_core    FXR_C1    FXR_C3    KH_dom    KH_dom_type_1   
Domain families : Pfam (Sanger)Agenet (PF05641)    FXMRP1_C_core (PF12235)    FXR_C1 (PF16096)    FXR_C3 (PF16097)    KH_1 (PF00013)   
Domain families : Pfam (NCBI)pfam05641    pfam12235    pfam16096    pfam16097    pfam00013   
Domain families : Smart (EMBL)KH (SM00322)  
Conserved Domain (NCBI)FXR1
DMDM Disease mutations8087
Blocks (Seattle)FXR1
PDB (SRS)2CPQ    3KUF    3O8V   
PDB (PDBSum)2CPQ    3KUF    3O8V   
PDB (IMB)2CPQ    3KUF    3O8V   
PDB (RSDB)2CPQ    3KUF    3O8V   
Structural Biology KnowledgeBase2CPQ    3KUF    3O8V   
SCOP (Structural Classification of Proteins)2CPQ    3KUF    3O8V   
CATH (Classification of proteins structures)2CPQ    3KUF    3O8V   
SuperfamilyP51114
Human Protein AtlasENSG00000114416
Peptide AtlasP51114
HPRD02892
IPIIPI00016249   IPI00554715   IPI00479630   IPI00797887   IPI00947512   IPI00947266   IPI00945864   IPI00791041   IPI00946077   IPI00945697   IPI00946237   IPI00945294   IPI00945836   
Protein Interaction databases
DIP (DOE-UCLA)P51114
IntAct (EBI)P51114
FunCoupENSG00000114416
BioGRIDFXR1
STRING (EMBL)FXR1
ZODIACFXR1
Ontologies - Pathways
QuickGOP51114
Ontology : AmiGOG-quadruplex RNA binding  RNA binding  mRNA binding  mRNA 3'-UTR binding  protein binding  nucleolus  cytoplasm  polysome  apoptotic process  muscle organ development  membrane  negative regulation of translation  cell differentiation  axon  RNA strand annealing activity  ribonucleoprotein granule  protein homodimerization activity  costamere  dendritic spine  poly(A) RNA binding  protein heterodimerization activity  perinuclear region of cytoplasm  positive regulation of gene silencing by miRNA  
Ontology : EGO-EBIG-quadruplex RNA binding  RNA binding  mRNA binding  mRNA 3'-UTR binding  protein binding  nucleolus  cytoplasm  polysome  apoptotic process  muscle organ development  membrane  negative regulation of translation  cell differentiation  axon  RNA strand annealing activity  ribonucleoprotein granule  protein homodimerization activity  costamere  dendritic spine  poly(A) RNA binding  protein heterodimerization activity  perinuclear region of cytoplasm  positive regulation of gene silencing by miRNA  
Pathways : KEGGRNA transport   
NDEx NetworkFXR1
Atlas of Cancer Signalling NetworkFXR1
Wikipedia pathwaysFXR1
Orthology - Evolution
OrthoDB8087
GeneTree (enSembl)ENSG00000114416
Phylogenetic Trees/Animal Genes : TreeFamFXR1
HOVERGENP51114
HOGENOMP51114
Homologs : HomoloGeneFXR1
Homology/Alignments : Family Browser (UCSC)FXR1
Gene fusions - Rearrangements
Fusion : MitelmanFXR1/BRAF [3q26.33/7q34]  
Fusion : MitelmanFXR1/RIMS2 [3q26.33/8q22.3]  [t(3;8)(q26;q22)]  
Fusion: TCGAFXR1 3q26.33 RIMS2 8q22.3 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerFXR1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)FXR1
dbVarFXR1
ClinVarFXR1
1000_GenomesFXR1 
Exome Variant ServerFXR1
ExAC (Exome Aggregation Consortium)FXR1 (select the gene name)
Genetic variants : HAPMAP8087
Genomic Variants (DGV)FXR1 [DGVbeta]
DECIPHER (Syndromes)3:180630234-180700539  ENSG00000114416
CONAN: Copy Number AnalysisFXR1 
Mutations
ICGC Data PortalFXR1 
TCGA Data PortalFXR1 
Broad Tumor PortalFXR1
OASIS PortalFXR1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICFXR1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDFXR1
intOGen PortalFXR1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch FXR1
DgiDB (Drug Gene Interaction Database)FXR1
DoCM (Curated mutations)FXR1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)FXR1 (select a term)
intoGenFXR1
Cancer3DFXR1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM600819   
Orphanet
MedgenFXR1
Genetic Testing Registry FXR1
NextProtP51114 [Medical]
TSGene8087
GENETestsFXR1
Huge Navigator FXR1 [HugePedia]
snp3D : Map Gene to Disease8087
BioCentury BCIQFXR1
ClinGenFXR1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD8087
Chemical/Pharm GKB GenePA28439
Clinical trialFXR1
Miscellaneous
canSAR (ICR)FXR1 (select the gene name)
Probes
Litterature
PubMed71 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineFXR1
EVEXFXR1
GoPubMedFXR1
iHOPFXR1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 13:06:46 CET 2017

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