| Written | 2001-01 | Marie-Joséphe Pébusque |
| INSERM U119, IFR 57, 27 Blvd Lei Roure, 13009 Marseille, France |
| Identity |
| Other names | FOP (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 |
| REVIEW articles | automatic search in PubMed |
| Last year publications | automatic search in PubMed |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Wed Sep 28 15:56:50 CEST 2016 |
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