{ "uniprot_canonical_ac": "Q9NVK5-1", "uniprot_ac": "Q9NVK5", "uniprot_id": "FGOP2_HUMAN", "mass": { "chemical_mass": 29426.0, "monoisotopic_mass": 29426.0 }, "refseq": { "ac": "NP_001165358", "name": "FGFR1 oncogene partner 2 isoform 2", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001165358" }, "gene_names": [ { "name": "FGFR1OP2", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/Q9NVK5", "id": "Q9NVK5" }, { "name": "FGFR1OP2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001165358", "id": "NP_001165358" }, { "name": "HSPC123-like; WIT3.0", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001165358", "id": "NP_001165358" }, { "name": "HSPC123", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q9NVK5", "id": "Q9NVK5" } ], "protein_names": [ { "name": "FGFR1 oncogene partner 2", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "Q9NVK5" }, { "name": "FGFR1 oncogene partner 2 isoform 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001165358", "id": "NP_001165358" }, { "name": "fibroblast growth factor receptor 1 oncogene partner 2; wound inducible transcript 3.0", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001165358", "id": "NP_001165358" } ], "function": [ { "annotation": "FGFR1OP2 is a new FGFR1 fusion gene involving a chromosomes 12X8 translocation in a 8p11 myeloproliferative syndrome patient.", "evidence": [ { "database": "RefSeq", "id": "NP_001165358", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001165358" }, { "database": "PubMed", "id": "15034873", "url": "https://glygen.org/publication/PubMed/15034873" } ] }, { "annotation": "FGFR1OP2/wit3.0 may regulate cell motility and stimulate wound closure.", "evidence": [ { "database": "RefSeq", "id": "NP_001165358", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001165358" }, { "database": "PubMed", "id": "19959814", "url": "https://glygen.org/publication/PubMed/19959814" } ] }, { "annotation": "May be involved in wound healing pathway.", "evidence": [ { "database": "UniProtKB", "id": "Q9NVK5", "url": "https://www.uniprot.org/uniprot/Q9NVK5#function" } ] }, { "annotation": "Patients with the minor allele of rs840869 or rs859024 of FGFR1OP2 were associated with excessive atrophy of edentulous mandible Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001165358", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001165358" }, { "database": "PubMed", "id": "21283824", "url": "https://glygen.org/publication/PubMed/21283824" } ] }, { "annotation": "The patient with minor allele of ss518063493 may be associated with excessive atrophy of edentulous mandible whereas the patients with that of rs840869 are not associated in Korean population.", "evidence": [ { "database": "RefSeq", "id": "NP_001165358", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001165358" }, { "database": "PubMed", "id": "22880093", "url": "https://glygen.org/publication/PubMed/22880093" } ] } ], "disease": [], "snv": [], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "89.32", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000111790", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000111790" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "84.95", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000111790", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000111790" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "88.73", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000111790", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000111790" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "94.13", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000111790", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000111790" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "92.85", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000111790", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000111790" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "88.65", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000111790", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000111790" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "90.31", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000111790", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000111790" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "90.3", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000111790", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000111790" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "89.96", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000111790", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000111790" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "92.72", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000111790", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000111790" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "Q9NVK5", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q9NVK5" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": 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Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "Q9NVK5", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q9NVK5" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q9NVK5" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ 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3-kinase and cytoskeletal reorganisation in porcine aortic endothelial cells.", "journal": "Journal of cell science", "date": "2000", "authors": "Cross MJ, Hodgkin MN, Roberts S, Landgren E, Wakelam MJ, Claesson-Welsh L", "evidence": [ { "database": "Reactome", "id": "R-HSA-5655302", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5655302" } ], "reference": [ { "type": "PubMed", "id": "10652257", "url": "https://glygen.org/publication/PubMed/10652257" } ] }, { "title": "FGFR1 is fused to the centrosome-associated protein CEP110 in the 8p12 stem cell myeloproliferative disorder with t(8;9)(p12;q33).", "journal": "Blood", "date": "2000", "authors": "Guasch G, Mack GJ, Popovici C, Dastugue N, Birnbaum D, Rattner JB, Pebusque MJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-1839117", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1839117" } ], "reference": [ { "type": "PubMed", "id": "10688839", "url": "https://glygen.org/publication/PubMed/10688839" } ] }, { "title": "ZNF198-FGFR1 transforming activity depends on a novel proline-rich ZNF198 oligomerization domain.", "journal": "Blood", "date": "2000", "authors": "Xiao S, McCarthy JG, Aster JC, Fletcher JA", "evidence": [ { "database": "Reactome", "id": "R-HSA-1839117", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1839117" } ], "reference": [ { "type": "PubMed", "id": "10887137", "url": "https://glygen.org/publication/PubMed/10887137" } ] }, { "title": "Transformation and Stat activation by derivatives of FGFR1, FGFR3, and FGFR4.", "journal": "Oncogene", "date": "2000", "authors": "Hart KC, Robertson SC, Kanemitsu MY, Meyer AN, Tynan JA, Donoghue DJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-5655302", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5655302" } ], "reference": [ { "type": "PubMed", "id": "10918587", "url": "https://glygen.org/publication/PubMed/10918587" } ] }, { "title": "ZNF198-FGFR1 transforms Ba/F3 cells to growth factor independence and results in high level tyrosine phosphorylation of STATS 1 and 5.", "journal": "Neoplasia (New York, N.Y.)", "date": "1999", "authors": "Smedley D, Demiroglu A, Abdul-Rauf M, Heath C, Cooper C, Shipley J, Cross NC", "evidence": [ { "database": "Reactome", "id": "R-HSA-1839117", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1839117" } ], "reference": [ { "type": "PubMed", "id": "10935490", "url": "https://glygen.org/publication/PubMed/10935490" } ] }, { "title": "Activated fibroblast growth factor receptor 3 is an oncogene that contributes to tumor progression in multiple myeloma.", "journal": "Blood", "date": "2001", "authors": "Chesi M, Brents LA, Ely SA, Bais C, Robbiani DF, Mesri EA, Kuehl WM, Bergsagel PL", "evidence": [ { "database": "Reactome", "id": "R-HSA-5655302", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5655302" } ], "reference": [ { "type": "PubMed", "id": "11157491", "url": "https://glygen.org/publication/PubMed/11157491" } ] }, { "title": "Deregulated FGFR3 mutants in multiple myeloma cell lines with t(4;14): comparative analysis of Y373C, K650E and the novel G384D mutations.", "journal": "Oncogene", "date": "2001", "authors": "Ronchetti D, Greco A, Compasso S, Colombo G, Dell'Era P, Otsuki T, Lombardi L, Neri A", "evidence": [ { "database": "Reactome", "id": "R-HSA-5655302", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5655302" } ], "reference": [ { "type": "PubMed", "id": "11429702", "url": "https://glygen.org/publication/PubMed/11429702" } ] }, { "title": "8p12 stem cell myeloproliferative disorder: the FOP-fibroblast growth factor receptor 1 fusion protein of the t(6;8) translocation induces cell survival mediated by mitogen-activated protein kinase and phosphatidylinositol 3-kinase/Akt/mTOR pathways.", "journal": "Molecular and cellular biology", "date": "2001", "authors": "Guasch G, Ollendorff V, Borg JP, Birnbaum D, Pebusque MJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-1839117", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1839117" } ], "reference": [ { "type": "PubMed", "id": "11689702", "url": "https://glygen.org/publication/PubMed/11689702" } ] }, { "title": "The t(8;22) in chronic myeloid leukemia fuses BCR to FGFR1: transforming activity and specific inhibition of FGFR1 fusion proteins.", "journal": "Blood", "date": "2001", "authors": "Demiroglu A, Steer EJ, Heath C, Taylor K, Bentley M, Allen SL, Koduru P, Brody JP, Hawson G, Rodwell R, Doody ML, Carnicero F, Reiter A, Goldman JM, Melo JV, Cross NC", "evidence": [ { "database": "Reactome", "id": "R-HSA-1839117", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1839117" } ], "reference": [ { "type": "PubMed", "id": "11739186", "url": "https://glygen.org/publication/PubMed/11739186" } ] }, { "title": "Critical role for Gab2 in transformation by BCR/ABL.", "journal": "Cancer cell", "date": "2002", "authors": "Sattler M, Mohi MG, Pride YB, Quinnan LR, Malouf NA, Podar K, Gesbert F, Iwasaki H, Li S, Van Etten RA, Gu H, Griffin JD, Neel BG", "evidence": [ { "database": "Reactome", "id": "R-HSA-1839117", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1839117" } ], "reference": [ { "type": "PubMed", "id": "12124177", "url": "https://glygen.org/publication/PubMed/12124177" } ] }, { "title": "Endogenous retroviral sequence is fused to FGFR1 kinase in the 8p12 stem-cell myeloproliferative disorder with t(8;19)(p12;q13.3).", "journal": "Blood", "date": "2003", "authors": "Guasch G, Popovici C, Mugneret F, Chaffanet M, Pontarotti P, Birnbaum D, Pebusque MJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-1839117", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1839117" } ], "reference": [ { "type": "PubMed", "id": "12393597", "url": "https://glygen.org/publication/PubMed/12393597" } ] }, { "title": "The phosphotyrosine phosphatase SHP2 is a critical mediator of transformation induced by the oncogenic fibroblast growth factor receptor 3.", "journal": "Oncogene", "date": "2003", "authors": "Agazie YM, Movilla N, Ischenko I, Hayman MJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-5655302", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5655302" } ], "reference": [ { "type": "PubMed", "id": "14534538", "url": "https://glygen.org/publication/PubMed/14534538" } ] }, { "title": "Critical role of STAT5 activation in transformation mediated by ZNF198-FGFR1.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Heath C, Cross NC", "evidence": [ { "database": "Reactome", "id": "R-HSA-1839117", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1839117" } ], "reference": [ { "type": "PubMed", "id": "14660670", "url": "https://glygen.org/publication/PubMed/14660670" } ] }, { "title": "Identification of a novel gene, FGFR1OP2, fused to FGFR1 in 8p11 myeloproliferative syndrome.", "journal": "Genes Chromosomes Cancer", "date": "2004", "authors": "Grand EK, Grand FH, Chase AJ, Ross FM, Corcoran MM, Oscier DG, Cross NC", "evidence": [ { "database": "UniProtKB", "id": "Q9NVK5", "url": "https://www.uniprot.org/uniprot/Q9NVK5" }, { "database": "Reactome", "id": "R-HSA-1839117", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1839117" }, { "database": "RefSeq", "id": "NP_001165358", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001165358" } ], "reference": [ { "type": "PubMed", "id": "15034873", "url": "https://glygen.org/publication/PubMed/15034873" } ] }, { "title": "Distinct stem cell myeloproliferative/T lymphoma syndromes induced by ZNF198-FGFR1 and BCR-FGFR1 fusion genes from 8p11 translocations.", "journal": "Cancer cell", "date": "2004", "authors": "Roumiantsev S, Krause DS, Neumann CA, Dimitri CA, Asiedu F, Cross NC, Van Etten RA", "evidence": [ { "database": "Reactome", "id": "R-HSA-1839117", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1839117" } ], "reference": [ { "type": "PubMed", "id": "15050920", "url": "https://glygen.org/publication/PubMed/15050920" } ] }, { "title": "PKC412 inhibits the zinc finger 198-fibroblast growth factor receptor 1 fusion tyrosine kinase and is active in treatment of stem cell myeloproliferative disorder.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2004", "authors": "Chen J, Deangelo DJ, Kutok JL, Williams IR, Lee BH, Wadleigh M, Duclos N, Cohen S, Adelsperger J, Okabe R, Coburn A, Galinsky I, Huntly B, Cohen PS, Meyer T, Fabbro D, Roesel J, Banerji L, Griffin JD, Xiao S, Fletcher JA, Stone RM, Gilliland DG", "evidence": [ { "database": "Reactome", "id": "R-HSA-1839117", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1839117" } ], "reference": [ { "type": "PubMed", "id": "15448205", "url": "https://glygen.org/publication/PubMed/15448205" } ] }, { "title": "8p11 myeloproliferative syndrome with a novel t(7;8) translocation leading to fusion of the FGFR1 and TIF1 genes.", "journal": "Genes, chromosomes & cancer", "date": "2005", "authors": "Belloni E, Trubia M, Gasparini P, Micucci C, Tapinassi C, Confalonieri S, Nuciforo P, Martino B, Lo-Coco F, Pelicci PG, Di Fiore PP", "evidence": [ { "database": "Reactome", "id": "R-HSA-1839117", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1839117" } ], "reference": [ { "type": "PubMed", "id": "15609342", "url": "https://glygen.org/publication/PubMed/15609342" } ] }, { "title": "The t(8;17)(p11;q23) in the 8p11 myeloproliferative syndrome fuses MYO18A to FGFR1.", "journal": "Leukemia", "date": "2005", "authors": "Walz C, Chase A, Schoch C, Weisser A, Schlegel F, Hochhaus A, Fuchs R, Schmitt-Graff A, Hehlmann R, Cross NC, Reiter A", "evidence": [ { "database": "Reactome", "id": "R-HSA-1839117", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1839117" } ], "reference": [ { "type": "PubMed", "id": "15800673", "url": "https://glygen.org/publication/PubMed/15800673" } ] }, { "title": "FGFR3 as a therapeutic target of the small molecule inhibitor PKC412 in hematopoietic malignancies.", "journal": "Oncogene", "date": "2005", "authors": "Chen J, Lee BH, Williams IR, Kutok JL, Mitsiades CS, Duclos N, Cohen S, Adelsperger J, Okabe R, Coburn A, Moore S, Huntly BJ, Fabbro D, Anderson KC, Griffin JD, Gilliland DG", "evidence": [ { "database": "Reactome", "id": "R-HSA-5655302", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5655302" } ], "reference": [ { "type": "PubMed", "id": "16091734", "url": "https://glygen.org/publication/PubMed/16091734" } ] }, { "title": "Intracellular retention, degradation, and signaling of glycosylation-deficient FGFR2 and craniosynostosis syndrome-associated FGFR2C278F.", "journal": "The Journal of biological chemistry", "date": "2006", "authors": "Hatch NE, Hudson M, Seto ML, Cunningham ML, Bothwell M", "evidence": [ { "database": "Reactome", "id": "R-HSA-5655302", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5655302" } ], "reference": [ { "type": "PubMed", "id": "16844695", "url": 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MAPK.", "journal": "Oncogene", "date": "2007", "authors": "Zhen Y, Sorensen V, Jin Y, Suo Z, Wiedlocha A", "evidence": [ { "database": "Reactome", "id": "R-HSA-1839117", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1839117" } ], "reference": [ { "type": "PubMed", "id": "17533378", "url": "https://glygen.org/publication/PubMed/17533378" } ] }, { "title": "Activity of TKI258 against primary cells and cell lines with FGFR1 fusion genes associated with the 8p11 myeloproliferative syndrome.", "journal": "Blood", "date": "2007", "authors": "Chase A, Grand FH, Cross NC", "evidence": [ { "database": "Reactome", "id": "R-HSA-1839117", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1839117" } ], "reference": [ { "type": "PubMed", "id": "17698633", "url": "https://glygen.org/publication/PubMed/17698633" } ] }, { "title": "The t(1;9)(p34;q34) and t(8;12)(p11;q15) fuse pre-mRNA processing proteins SFPQ (PSF) and CPSF6 to ABL and FGFR1.", "journal": "Genes, chromosomes & cancer", "date": "2008", "authors": "Hidalgo-Curtis C, Chase A, Drachenberg M, Roberts MW, Finkelstein JZ, Mould S, Oscier D, Cross NC, Grand FH", "evidence": [ { "database": "Reactome", "id": "R-HSA-1839117", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1839117" } ], "reference": [ { "type": "PubMed", "id": "18205209", "url": "https://glygen.org/publication/PubMed/18205209" } ] }, { "title": "Involvement of fibroblast growth factor receptor 2 isoform switching in mammary oncogenesis.", "journal": "Molecular cancer research : MCR", "date": "2008", "authors": "Cha JY, Lambert QT, Reuther GW, Der CJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-5655302", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5655302" } ], "reference": [ { "type": "PubMed", "id": "18337450", "url": "https://glygen.org/publication/PubMed/18337450" } ] }, { "title": "Extracellular point mutations in FGFR2 elicit unexpected changes in intracellular signalling.", "journal": "The Biochemical journal", "date": "2008", "authors": "Ahmed Z, Schuller AC, Suhling K, Tregidgo C, Ladbury JE", "evidence": [ { "database": "Reactome", "id": "R-HSA-5655302", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5655302" } ], "reference": [ { "type": "PubMed", "id": "18373495", "url": "https://glygen.org/publication/PubMed/18373495" } ] }, { "title": "FGFR2-amplified gastric cancer cell lines require FGFR2 and Erbb3 signaling for growth and survival.", "journal": "Cancer research", "date": "2008", "authors": "Kunii K, Davis L, Gorenstein J, Hatch H, Yashiro M, Di Bacco A, Elbi C, Lutterbach B", "evidence": [ { "database": "Reactome", "id": "R-HSA-5655302", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5655302" } ], "reference": [ { "type": "PubMed", "id": "18381441", "url": "https://glygen.org/publication/PubMed/18381441" } ] }, { "title": "Myeloproliferative disorder FOP-FGFR1 fusion kinase recruits phosphoinositide-3 kinase and phospholipase Cgamma at the centrosome.", "journal": "Molecular cancer", "date": "2008", "authors": "Lelievre H, Chevrier V, Tassin AM, Birnbaum D", "evidence": [ { "database": "Reactome", "id": "R-HSA-1839117", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1839117" } ], "reference": [ { "type": "PubMed", "id": "18412956", "url": "https://glygen.org/publication/PubMed/18412956" } ] }, { "title": "Drug-sensitive FGFR2 mutations in endometrial carcinoma.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dutt A, Salvesen HB, Chen TH, Ramos AH, Onofrio RC, Hatton C, Nicoletti R, Winckler W, Grewal R, Hanna M, Wyhs N, Ziaugra L, Richter DJ, Trovik J, Engelsen IB, Stefansson IM, Fennell T, Cibulskis K, Zody MC, Akslen LA, Gabriel S, Wong KK, Sellers WR, Meyerson M, Greulich H", "evidence": [ { "database": "Reactome", "id": "R-HSA-5655302", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5655302" } ], "reference": [ { "type": "PubMed", "id": 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