FGFR1OP (FGFR1 oncogene partner)
2001-01-01 Marie-Joséphe Pébusque AffiliationINSERM U119, IFR 57, 27 Blvd Lei Roure, 13009 Marseille, France
Identity
HGNC
LOCATION
6q27
IMAGE
LEGEND
FOP (6q27) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics.
LOCUSID
ALIAS
FGFR1OP,FOP
FUSION GENES
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
Proteins
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
Entity name
t(6;8)(q27; p12) myeloproliferative disorder --> FGFR1OP - 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 gene
5 FOP - 3 FGFR1; localisation: der(6)
Fusion 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
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 9949182 | 1999 | 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 et al |
Citation
Marie-Joséphe Pébusque
FGFR1OP (FGFR1 oncogene partner)
Atlas Genet Cytogenet Oncol Haematol. 2001-01-01
Online version: http://atlasgeneticsoncology.org/gene/140/fgfr1op-(fgfr1-oncogene-partner)
