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FGFR1OP (FGFR1 oncogene partner)

Written2001-01Marie-Joséphe Pébusque
INSERM U119, IFR 57, 27 Blvd Lei Roure, 13009 Marseille, France

(Note : for Links provided by Atlas : click)

Identity

Other namesFOP (Fibroblast Growth Factor Receptor 1 Oncogene Partner)
HGNC (Hugo) FGFR1OP
LocusID (NCBI) 11116
Atlas_Id 140
Location 6q27  [Link to chromosome band 6q27]
Location_base_pair Starts at 167412805 and ends at 167455906 bp from pter ( according to hg19-Feb_2009)  [Mapping FGFR1OP.png]
 
  FOP (6q27) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics.
Fusion genes
(updated 2016)
FGFR1 (8p11.23) / FGFR1OP (6q27)FGFR1OP (6q27) / ABCC4 (13q32.1)FGFR1OP (6q27) / FGFR1 (8p11.23)
FGFR1OP (6q27) / MCM9 (6q22.31)FGFR1OP (6q27) / RET (10q11.21)TARS (5p13.3) / FGFR1OP (6q27)

DNA/RNA

Description full length cDNA: 1 627 bp
Transcription a single open reading frame of 1 197 bp mRNA; putative ATG: bp 85; stop codon at bp 1 282; alternative splicing: multiple FOP transcript variants resulting from exon 7 or exon 11 splices

Protein

 
Description 399 amino acids; predicted molecular mass: 44.3 kDa; Hydrophobic protein containing in its N- and C-termini several regions folding in a-helices with leucine-rich repeats with the consensus sequence L-X2-L-X3-5-L-X3-5-L, in one-third of which the leucine is substituted by either a valine or an isoleucine
Expression ubiquitous expression
Localisation cell cytoplasm
Function unknown

Implicated in

Note
Entity t(6;8)(q27; p12) myeloproliferative disorder --> FOP - FGFR1 ; stem-cell myeloproliferative disorder associated with the 8p12 chromosomal translocations with fusions to the catalytic domain of FGFR1
Disease stem-cell myeloproliferative disorder characterized by myeloid hyperplasia, T -cell lymphoblastic leukemia/lymphoma and peripheral blood eosinophilia, and it generally progresses to acute myeloid leukemia; specific to the 8p12 chromosomal region.
Prognosis very poor (median survival: 12 mths)
Cytogenetics additional abnormalities: 2q+ and +21
Hybrid/Mutated Gene 5' FOP - 3' FGFR1; localisation: der(6)
Abnormal Protein N-term leucine-rich region from FOP fused to the catalytic domain of FGFR1 (FGFR1 intracellular region minus the major part of the juxtamembrane domain)
 
Oncogenesis constitutive kinase activity of FGFR1 through constitutive activation of FGFR1 signal transduction pathways via putative constitutive dimerization capability mediated by the FOP N-term LRR sequences
  

Bibliography

The t(6;8)(q27;p11) translocation in a stem cell myeloproliferative disorder fuses a novel gene, FOP, to fibroblast growth factor receptor 1.
Popovici C, Zhang B, Grégoire MJ, Jonveaux P, Lafage-Pochitaloff M, Birnbaum D, Pébusque MJ
Blood. 1999 ; 93 (4) : 1381-1389.
PMID 9949182
 

Citation

This paper should be referenced as such :
Pébusque, MJ
FGFR1OP (FGFR1 oncogene partner)
Atlas Genet Cytogenet Oncol Haematol. 2001;5(1):21-22.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Genes/FOPID140.html


Other Leukemias implicated (Data extracted from papers in the Atlas) [ 2 ]
  8p11 myeloproliferative syndrome (FGFR1)
t(6;8)(q27;p12) FGFR1OP/FGFR1

External links

Nomenclature
HGNC (Hugo)FGFR1OP   17012
Cards
AtlasFOPID140
Entrez_Gene (NCBI)FGFR1OP  11116  FGFR1 oncogene partner
AliasesFOP
GeneCards (Weizmann)FGFR1OP
Ensembl hg19 (Hinxton)ENSG00000213066 [Gene_View]  chr6:167412805-167455906 [Contig_View]  FGFR1OP [Vega]
Ensembl hg38 (Hinxton)ENSG00000213066 [Gene_View]  chr6:167412805-167455906 [Contig_View]  FGFR1OP [Vega]
ICGC DataPortalENSG00000213066
TCGA cBioPortalFGFR1OP
AceView (NCBI)FGFR1OP
Genatlas (Paris)FGFR1OP
WikiGenes11116
SOURCE (Princeton)FGFR1OP
Genomic and cartography
GoldenPath hg19 (UCSC)FGFR1OP  -     chr6:167412805-167455906 +  6q27   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)FGFR1OP  -     6q27   [Description]    (hg38-Dec_2013)
EnsemblFGFR1OP - 6q27 [CytoView hg19]  FGFR1OP - 6q27 [CytoView hg38]
Mapping of homologs : NCBIFGFR1OP [Mapview hg19]  FGFR1OP [Mapview hg38]
OMIM605392   
Gene and transcription
Genbank (Entrez)AJ420472 AK289846 AK294950 AK312791 BC011902
RefSeq transcript (Entrez)NM_001278690 NM_007045 NM_194429
RefSeq genomic (Entrez)NC_000006 NC_018917 NT_025741 NW_004929328
Consensus coding sequences : CCDS (NCBI)FGFR1OP
Cluster EST : UnigeneHs.487175 [ NCBI ]
CGAP (NCI)Hs.487175
Alternative Splicing GalleryENSG00000213066
Gene ExpressionFGFR1OP [ NCBI-GEO ]   FGFR1OP [ EBI - ARRAY_EXPRESS ]   FGFR1OP [ SEEK ]   FGFR1OP [ MEM ]
Gene Expression Viewer (FireBrowse)FGFR1OP [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)11116
GTEX Portal (Tissue expression)FGFR1OP
Protein : pattern, domain, 3D structure
UniProt/SwissProtO95684 (Uniprot)
NextProtO95684  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO95684
Splice isoforms : SwissVarO95684 (Swissvar)
PhosPhoSitePlusO95684
Domaine pattern : Prosite (Expaxy)LISH (PS50896)   
Domains : Interpro (EBI)FOP_dimerisation-dom_N    LisH   
Domain families : Pfam (Sanger)FOP_dimer (PF09398)   
Domain families : Pfam (NCBI)pfam09398   
Domain families : Smart (EMBL)LisH (SM00667)  
DMDM Disease mutations11116
Blocks (Seattle)FGFR1OP
PDB (SRS)2D68   
PDB (PDBSum)2D68   
PDB (IMB)2D68   
PDB (RSDB)2D68   
Structural Biology KnowledgeBase2D68   
SCOP (Structural Classification of Proteins)2D68   
CATH (Classification of proteins structures)2D68   
SuperfamilyO95684
Human Protein AtlasENSG00000213066
Peptide AtlasO95684
HPRD10392
IPIIPI00013076   IPI00305013   IPI00641007   
Protein Interaction databases
DIP (DOE-UCLA)O95684
IntAct (EBI)O95684
FunCoupENSG00000213066
BioGRIDFGFR1OP
STRING (EMBL)FGFR1OP
ZODIACFGFR1OP
Ontologies - Pathways
QuickGOO95684
Ontology : AmiGOG2/M transition of mitotic cell cycle  protein tyrosine kinase activity  protein binding  nucleus  centrosome  cytosol  negative regulation of protein kinase activity  positive regulation of cell proliferation  peptidyl-tyrosine phosphorylation  protein kinase binding  protein tyrosine kinase inhibitor activity  positive regulation of cell growth  positive regulation of cell migration  microtubule anchoring  protein homodimerization activity  perinuclear region of cytoplasm  negative regulation of protein tyrosine kinase activity  
Ontology : EGO-EBIG2/M transition of mitotic cell cycle  protein tyrosine kinase activity  protein binding  nucleus  centrosome  cytosol  negative regulation of protein kinase activity  positive regulation of cell proliferation  peptidyl-tyrosine phosphorylation  protein kinase binding  protein tyrosine kinase inhibitor activity  positive regulation of cell growth  positive regulation of cell migration  microtubule anchoring  protein homodimerization activity  perinuclear region of cytoplasm  negative regulation of protein tyrosine kinase activity  
REACTOMEO95684 [protein]
REACTOME PathwaysR-HSA-5655302 Signaling by FGFR1 in disease [pathway]
REACTOME PathwaysR-HSA-380284 Loss of proteins required for interphase microtubule organization from the centrosome [pathway]
REACTOME PathwaysR-HSA-380259 Loss of Nlp from mitotic centrosomes [pathway]
REACTOME PathwaysR-HSA-2565942 Regulation of PLK1 Activity at G2/M Transition [pathway]
REACTOME PathwaysR-HSA-5620912 Anchoring of the basal body to the plasma membrane [pathway]
REACTOME PathwaysR-HSA-380270 Recruitment of mitotic centrosome proteins and complexes [pathway]
REACTOME PathwaysR-HSA-1839117 Signaling by FGFR1 fusion mutants [pathway]
NDEx Network
Atlas of Cancer Signalling NetworkFGFR1OP
Wikipedia pathwaysFGFR1OP
Orthology - Evolution
OrthoDB11116
GeneTree (enSembl)ENSG00000213066
Phylogenetic Trees/Animal Genes : TreeFamFGFR1OP
Homologs : HomoloGeneFGFR1OP
Homology/Alignments : Family Browser (UCSC)FGFR1OP
Gene fusions - Rearrangements
Fusion : MitelmanFGFR1OP/ABCC4 [6q27/13q32.1]  
Fusion : MitelmanFGFR1OP/FGFR1 [6q27/8p11.23]  [t(6;8)(q27;p11)]  
Fusion : MitelmanFGFR1OP/MCM9 [6q27/6q22.31]  [t(6;6)(q22;q27)]  
Fusion : MitelmanFGFR1OP/RET [6q27/10q11.21]  [t(6;10)(q27;q11)]  
Fusion: TCGAFGFR1OP 6q27 ABCC4 13q32.1 SKCM
Fusion: TCGAFGFR1OP 6q27 MCM9 6q22.31 BRCA
Polymorphisms : SNP, variants
NCBI Variation ViewerFGFR1OP [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)FGFR1OP
dbVarFGFR1OP
ClinVarFGFR1OP
1000_GenomesFGFR1OP 
Exome Variant ServerFGFR1OP
ExAC (Exome Aggregation Consortium)FGFR1OP (select the gene name)
Genetic variants : HAPMAP11116
Genomic Variants (DGV)FGFR1OP [DGVbeta]
Mutations
ICGC Data PortalFGFR1OP 
TCGA Data PortalFGFR1OP 
Broad Tumor PortalFGFR1OP
OASIS PortalFGFR1OP [ Somatic mutations - Copy number]
Cancer Gene: CensusFGFR1OP 
Somatic Mutations in Cancer : COSMICFGFR1OP 
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
BioMutasearch FGFR1OP
DgiDB (Drug Gene Interaction Database)FGFR1OP
DoCM (Curated mutations)FGFR1OP (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)FGFR1OP (select a term)
intoGenFGFR1OP
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)6:167412805-167455906  ENSG00000213066
CONAN: Copy Number AnalysisFGFR1OP 
Mutations and Diseases : HGMDFGFR1OP
OMIM605392   
MedgenFGFR1OP
Genetic Testing Registry FGFR1OP
NextProtO95684 [Medical]
TSGene11116
GENETestsFGFR1OP
Huge Navigator FGFR1OP [HugePedia]
snp3D : Map Gene to Disease11116
BioCentury BCIQFGFR1OP
ClinGenFGFR1OP
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD11116
Chemical/Pharm GKB GenePA134941638
Clinical trialFGFR1OP
Miscellaneous
canSAR (ICR)FGFR1OP (select the gene name)
Probes
ProbeCancer Cytogenetics (Bari)
Litterature
PubMed40 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineFGFR1OP
EVEXFGFR1OP
GoPubMedFGFR1OP
iHOPFGFR1OP
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Sat Jun 11 13:01:54 CEST 2016

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