{ "uniprot_canonical_ac": "P10767-1", "uniprot_ac": "P10767", "uniprot_id": "FGF6_HUMAN", "mass": { "chemical_mass": 22905.0, "monoisotopic_mass": 22905.0 }, "refseq": { "ac": "NP_066276", "name": "fibroblast growth factor 6 precursor", "summary": "The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. This gene displayed oncogenic transforming activity when transfected into mammalian cells. The mouse homolog of this gene exhibits a restricted expression profile predominantly in the myogenic lineage, which suggested a role in muscle regeneration or differentiation. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_066276" }, "gene_names": [ { "name": "FGF6", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P10767", "id": "P10767" }, { "name": "FGF6", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_066276", "id": "NP_066276" }, { "name": "HBGF-6; HST2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_066276", "id": "NP_066276" }, { "name": "HST2", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P10767", "id": "P10767" }, { "name": "HSTF2", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P10767", "id": "P10767" } ], "protein_names": [ { "name": "Fibroblast growth factor 6", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P10767" }, { "name": "FGF-6; HST-2; HSTF-2; heparin-binding growth factor 6; heparin secretory-transforming protein 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_066276", "id": "NP_066276" }, { "name": "FGF-6", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P10767" }, { "name": "HBGF-6", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P10767" }, { "name": "HST-2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P10767" }, { "name": "HSTF-2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P10767" }, { "name": "Heparin secretory-transforming protein 2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P10767" }, { "name": "Heparin-binding growth factor 6", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P10767" }, { "name": "fibroblast growth factor 6 precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_066276", "id": "NP_066276" } ], "function": [ { "annotation": "FGF6 downregulation correlated with iron-metabolism dysfunction in systemic sclerosis and cancer.", "evidence": [ { "database": "RefSeq", "id": "NP_066276", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_066276" }, { "database": "PubMed", "id": "30814063", "url": "https://glygen.org/publication/PubMed/30814063" } ] }, { "annotation": "FGF6 promotes cardiac repair after myocardial infarction by inhibiting the Hippo pathway.", "evidence": [ { "database": "RefSeq", "id": "NP_066276", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_066276" }, { "database": "PubMed", "id": "35355356", "url": "https://glygen.org/publication/PubMed/35355356" } ] }, { "annotation": "LINC00265 promotes the viability, proliferation, and migration of bladder cancer cells via the miR-4677-3p/FGF6 axis.", "evidence": [ { "database": "RefSeq", "id": "NP_066276", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_066276" }, { "database": "PubMed", "id": "34591706", "url": "https://glygen.org/publication/PubMed/34591706" } ] }, { "annotation": "Plays an important role in the regulation of cell proliferation, cell differentiation, angiogenesis and myogenesis, and is required for normal muscle regeneration.", "evidence": [ { "database": "UniProtKB", "id": "P10767", "url": "https://www.uniprot.org/uniprot/P10767#function" }, { "database": "PubMed", "id": "8663044", "url": "https://glygen.org/publication/PubMed/8663044" } ] }, { "annotation": "Skeletal muscle-targeted delivery of Fgf6 protects mice from diet-induced obesity and insulin resistance. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_066276", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_066276" }, { "database": "PubMed", "id": "34491915", "url": "https://glygen.org/publication/PubMed/34491915" } ] }, { "annotation": "The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. This gene displayed oncogenic transforming activity when transfected into mammalian cells. The mouse homolog of this gene exhibits a restricted expression profile predominantly in the myogenic lineage, which suggested a role in muscle regeneration or differentiation. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_066276", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_066276" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs1236384347", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1236384347" }, { "id": "rs1236384347", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1236384347#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 107, "end_pos": 107, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SGT->NGT).", "chr_id": "12", "chr_pos": "4445251", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S107", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P10767", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P10767" } ], "glycoeffect": [], "start_pos": 188, "end_pos": 188, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "W", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "12", "chr_pos": "4434280", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R188", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] }, { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1228309395", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1228309395" }, { "id": "rs1228309395", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1228309395" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 198, "end_pos": 198, "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (IMT->NMT).", "chr_id": "12", "chr_pos": "4434249", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I198", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1347976478", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1347976478" }, { "id": "rs1347976478", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1347976478" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 47, "end_pos": 47, "sequence_org": "T", "sequence_mut": "M", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NNT->NNM).", "chr_id": "12", "chr_pos": "4445431", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T47", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "47.18", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000111241", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000111241" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "61.59", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000111241", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000111241" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "37.59", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000111241", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000111241" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "88.41", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000111241", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000111241" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "17.43", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000111241", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000111241" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "24.44", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000111241", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000111241" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "75.19", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000111241", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000111241" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "48.37", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000111241", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000111241" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "23.22", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000111241", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000111241" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "73.45", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000111241", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000111241" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "30.58", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000111241", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000111241" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "23.04", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000111241", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000111241" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "23.98", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000111241", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000111241" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P10767", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P10767" } ], "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": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "No", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P10767", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P10767" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "P10767", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P10767" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] } ] }, { "significant": "No", "trend": "up", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "P10767", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P10767" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "No", "trend": "down", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "P10767", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P10767" } ], "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial 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": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "P10767", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P10767" } ], "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": "No", "trend": "up", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "P10767", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P10767" } ], "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ] }, { "significant": "No", "trend": "down", "name": "Colorectal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:9256", "evidence": [ { "database": "BioXpress", "id": "P10767", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P10767" } ], "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P10767", "url": "https://www.uniprot.org/uniprot/P10767" } ], "common_name": "Human" } ], "gene": [ { "name": "FGF6", "url": "https://www.uniprot.org/uniprot/P10767", "locus": { "chromosome": "12", "start_pos": 4428155, "end_pos": 4445815, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000111241", "url": "https://www.ensembl.org/id/ENSG00000111241" } ] } } ], "crossref": [ { "id": "ENSG00000111241", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000111241", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "P10767", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P10767", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "cd00058", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd00058", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "FGF6", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=FGF6", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "2251", "url": "https://www.ncbi.nlm.nih.gov/gene/2251", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "3684", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=3684", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "P10767", "url": "https://www.ebi.ac.uk/intact/interactors/id:P10767*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR002209", "url": "https://www.ebi.ac.uk/interpro/entry/IPR002209", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR008996", "url": "https://www.ebi.ac.uk/interpro/entry/IPR008996", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:2251", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:2251", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "134921", "url": "http://www.omim.org/entry/134921", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_P10767", "url": "https://www.nextprot.org/entry/NX_P10767", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "RISGAHN", "url": "https://omabrowser.org/oma/group/RISGAHN/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "2883843at2759", "url": "http://www.orthodb.org/?query=2883843at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR11486", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11486", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR11486:SF25", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11486:SF25", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF00167", "url": "http://pfam.xfam.org/family/PF00167", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "P10767", "url": "https://pharos.nih.gov/targets/P10767", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_P10767", "url": "http://purl.obolibrary.org/obo/PR_P10767", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-109704", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-109704", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-1257604", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1257604", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-1839122", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1839122", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-190322", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-190322", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-190373", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-190373", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-190375", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-190375", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-2033519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2033519", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-2219530", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2219530", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-5654219", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5654219", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-5654221", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5654221", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-5654228", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5654228", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-5654687", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5654687", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-5654688", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5654688", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-5654689", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5654689", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-5654693", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5654693", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-5654695", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5654695", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-5654699", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5654699", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-5654700", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5654700", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-5654712", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5654712", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-5654719", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5654719", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-5654720", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5654720", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-5654726", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5654726", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-5654727", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5654727", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-5654733", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5654733", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-5655253", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5655253", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-5655302", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5655302", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-6811558", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811558", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_066276", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_066276", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "H0YGZ9", "url": "https://www.uniprot.org/uniprot/H0YGZ9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YGZ9-1", "url": "https://www.uniprot.org/uniprot/H0YGZ9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P10767", "url": "https://www.uniprot.org/uniprot/P10767", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P10767-1", "url": "https://www.uniprot.org/uniprot/P10767-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MALGQKLFITMSRGAGRLQGTLWALVFLGILVGMVVPSPAGTRANNTLLDSRGWGTLLSRSRAGLAGEIAGVNWESGYLVGIKRQRRLYCNVGIGFHLQVLPDGRISGTHEENPYSLLEISTVERGVVSLFGVRSALFVAMNSKGRLYATPSFQEECKFRETLLPNNYNAYESDLYQGTYIALSKYGRVKRGSKVSPIMTVTHFLPRI", "length": 208, "header": "sp|P10767-1|FGF6_HUMAN Isoform 1 of Fibroblast growth factor 6 OS=Homo sapiens OX=9606 GN=FGF6 PE=1 SV=4 CANONICAL=P10767-1" }, "isoforms": [ { "isoform_ac": "H0YGZ9-1", "url": "", "sequence": { "sequence": "TVERGVVSLFGVRSALFVAMNSKGRLYATVK", "length": 31, "header": "tr|H0YGZ9-1|FGF6_HUMAN Computationally mapped isoform of Fibroblast growth factor 6 OS=Homo sapiens OX=9606 GN=FGF6 PE=1 SV=1 CANONICAL=P10767-1" }, "locus": { "chromosome": "12", "start_pos": 4444219, "end_pos": 4428398, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000543077.1", "url": "https://www.ensembl.org/id/ENST00000543077.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000445479.1", "url": "https://www.ensembl.org/id/ENSP00000445479.1" } ] } }, { "isoform_ac": "P10767-1", "url": "", "sequence": { "sequence": "MALGQKLFITMSRGAGRLQGTLWALVFLGILVGMVVPSPAGTRANNTLLDSRGWGTLLSRSRAGLAGEIAGVNWESGYLVGIKRQRRLYCNVGIGFHLQVLPDGRISGTHEENPYSLLEISTVERGVVSLFGVRSALFVAMNSKGRLYATPSFQEECKFRETLLPNNYNAYESDLYQGTYIALSKYGRVKRGSKVSPIMTVTHFLPRI", "length": 208, "header": "sp|P10767-1|FGF6_HUMAN Isoform 1 of Fibroblast growth factor 6 OS=Homo sapiens OX=9606 GN=FGF6 PE=1 SV=4 CANONICAL=P10767-1" }, "locus": { "chromosome": "12", "start_pos": 4445570, "end_pos": 4434218, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000228837.3", "url": "https://www.ensembl.org/id/ENST00000228837.3" }, { "database": "Ensembl Peptide", "id": "ENSP00000228837.2", "url": "https://www.ensembl.org/id/ENSP00000228837.2" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 45, "start_aa": "Asn", "end_pos": 45, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn45", "evidence": [ { "id": "P10767", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P10767#ptm_processing" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_predicted" ], "publication": [ { "title": "A novel skeletal dysplasia with developmental delay and acanthosis nigricans is caused by a Lys650Met mutation in the fibroblast growth factor receptor 3 gene.", "journal": "American journal of human genetics", "date": "1999", "authors": "Tavormina PL, Bellus GA, Webster MK, Bamshad MJ, Fraley AE, McIntosh I, Szabo J, Jiang W, Jabs EW, Wilcox WR, Wasmuth JJ, Donoghue DJ, Thompson LM, Francomano CA", "evidence": [ { "database": "Reactome", "id": "R-HSA-1839122", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1839122" } ], "reference": [ { "type": "PubMed", "id": "10053006", "url": "https://glygen.org/publication/PubMed/10053006" } ] }, { "title": "Activation of serum- and glucocorticoid-regulated protein kinase by agonists that activate phosphatidylinositide 3-kinase is mediated by 3-phosphoinositide-dependent protein kinase-1 (PDK1) and PDK2.", "journal": "The Biochemical journal", "date": "1999", "authors": "Kobayashi T, Cohen P", "evidence": [ { "database": "Reactome", "id": "R-HSA-1257604", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1257604" } ], "reference": [ { "type": "PubMed", "id": "10191262", "url": "https://glygen.org/publication/PubMed/10191262" } ] }, { "title": "Structural basis for FGF receptor dimerization and activation.", "journal": "Cell", "date": "1999", "authors": "Plotnikov AN, Schlessinger J, Hubbard SR, Mohammadi M", "evidence": [ { "database": "Reactome", "id": "R-HSA-2033519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2033519" } ], "reference": [ { "type": "PubMed", "id": "10490103", "url": "https://glygen.org/publication/PubMed/10490103" } ] }, { "title": "Two co-existing mechanisms for nuclear import of MAP kinase: passive diffusion of a monomer and active transport of a dimer.", "journal": "The EMBO journal", "date": "1999", "authors": "Adachi M, Fukuda M, Nishida E", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "10508167", "url": "https://glygen.org/publication/PubMed/10508167" } ] }, { "title": "Mapping ligand binding domains in chimeric fibroblast growth factor receptor molecules. Multiple regions determine ligand binding specificity.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Chellaiah A, Yuan W, Chellaiah M, Ornitz DM", "evidence": [ { "database": "Reactome", "id": "R-HSA-2033519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2033519" } ], "reference": [ { "type": "PubMed", "id": "10574949", "url": "https://glygen.org/publication/PubMed/10574949" } ] }, { "title": "Phospholipase C-gamma as a signal-transducing element.", "journal": "Experimental cell research", "date": "1999", "authors": "Carpenter G, Ji Qs", "evidence": [ { "database": "Reactome", "id": "R-HSA-5655302", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5655302" } ], "reference": [ { "type": "PubMed", "id": "10579907", "url": "https://glygen.org/publication/PubMed/10579907" } ] }, { "title": "Structural interactions of fibroblast growth factor receptor with its ligands.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2000", "authors": "Stauber DJ, DiGabriele AD, Hendrickson WA", "evidence": [ { "database": "Reactome", "id": "R-HSA-2033519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2033519" } ], "reference": [ { "type": "PubMed", "id": "10618369", "url": "https://glygen.org/publication/PubMed/10618369" } ] }, { "title": "FRS2 proteins recruit intracellular signaling pathways by binding to diverse targets on fibroblast growth factor and nerve growth factor receptors.", "journal": "Molecular and cellular biology", "date": "2000", "authors": "Ong SH, Guy GR, Hadari YR, Laks S, Gotoh N, Schlessinger J, Lax I", "evidence": [ { "database": "Reactome", "id": "R-HSA-5654700", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5654700" } ], "reference": [ { "type": "PubMed", "id": "10629055", "url": "https://glygen.org/publication/PubMed/10629055" } ] }, { "title": "Tyrosine 766 in the fibroblast growth factor receptor-1 is required for FGF-stimulation of phospholipase C, phospholipase D, phospholipase A(2), phosphoinositide 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": "A novel RalGEF-like protein, RGL3, as a candidate effector for rit and Ras.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Shao H, Andres DA", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "10869344", "url": "https://glygen.org/publication/PubMed/10869344" } ] }, { "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": "Flt3 ligand induces tyrosine phosphorylation of gab1 and gab2 and their association with shp-2, grb2, and PI3 kinase.", "journal": "Biochemical and biophysical research communications", "date": "2000", "authors": "Zhang S, Broxmeyer HE", "evidence": [ { "database": "Reactome", "id": "R-HSA-109704", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-109704" } ], "reference": [ { "type": "PubMed", "id": "11027663", "url": "https://glygen.org/publication/PubMed/11027663" } ] }, { "title": "Distinct missense mutations of the FGFR3 lys650 codon modulate receptor kinase activation and the severity of the skeletal dysplasia phenotype.", "journal": "American journal of human genetics", "date": "2000", "authors": "Bellus GA, Spector EB, Speiser PW, Weaver CA, Garber AT, Bryke CR, Israel J, Rosengren SS, Webster MK, Donoghue DJ, Francomano CA", "evidence": [ { "database": "Reactome", "id": "R-HSA-2033519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2033519" } ], "reference": [ { "type": "PubMed", "id": "11055896", "url": "https://glygen.org/publication/PubMed/11055896" } ] }, { "title": "Flt3 mutations from patients with acute myeloid leukemia induce transformation of 32D cells mediated by the Ras and STAT5 pathways.", "journal": "Blood", "date": "2000", "authors": "Mizuki M, Fenski R, Halfter H, Matsumura I, Schmidt R, Muller C, Gruning W, Kratz-Albers K, Serve S, Steur C, Buchner T, Kienast J, Kanakura Y, Berdel WE, Serve H", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "11090077", "url": "https://glygen.org/publication/PubMed/11090077" } ] }, { "title": "Loss of fibroblast growth factor receptor 2 ligand-binding specificity in Apert syndrome.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2000", "authors": "Yu K, Herr AB, Waksman G, Ornitz DM", "evidence": [ { "database": "Reactome", "id": "R-HSA-1839122", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1839122" } ], "reference": [ { "type": "PubMed", "id": "11121055", "url": "https://glygen.org/publication/PubMed/11121055" } ] }, { "title": "Crystal structure and functional analysis of Ras binding to its effector phosphoinositide 3-kinase gamma.", "journal": "Cell", "date": "2000", "authors": "Pacold ME, Suire S, Perisic O, Lara-Gonzalez S, Davis CT, Walker EH, Hawkins PT, Stephens L, Eccleston JF, Williams RL", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "11136978", "url": "https://glygen.org/publication/PubMed/11136978" } ] }, { "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-5655253", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5655253" } ], "reference": [ { "type": "PubMed", "id": "11157491", "url": "https://glygen.org/publication/PubMed/11157491" } ] }, { "title": "Identification of tyrosine residues in constitutively activated fibroblast growth factor receptor 3 involved in mitogenesis, Stat activation, and phosphatidylinositol 3-kinase activation.", "journal": "Molecular biology of the cell", "date": "2001", "authors": "Hart KC, Robertson SC, Donoghue DJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-190322", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-190322" } ], "reference": [ { "type": "PubMed", "id": "11294897", "url": "https://glygen.org/publication/PubMed/11294897" } ] }, { "title": "The importance of autosomal genes in Kallmann syndrome: genotype-phenotype correlations and neuroendocrine characteristics.", "journal": "The Journal of clinical endocrinology and metabolism", "date": "2001", "authors": "Oliveira LM, Seminara SB, Beranova M, Hayes FJ, Valkenburgh SB, Schipani E, Costa EM, Latronico AC, Crowley WF Jr, Vallejo M", "evidence": [ { "database": "Reactome", "id": "R-HSA-5654726", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5654726" } ], "reference": [ { "type": "PubMed", "id": "11297579", "url": "https://glygen.org/publication/PubMed/11297579" } ] }, { "title": "A novel potential effector of M-Ras and p21 Ras negatively regulates p21 Ras-mediated gene induction and cell growth.", "journal": "Oncogene", "date": "2001", "authors": "Ehrhardt GR, Korherr C, Wieler JS, Knaus M, Schrader JW", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "11313946", "url": "https://glygen.org/publication/PubMed/11313946" } ] }, { "title": "Stimulation of phosphatidylinositol 3-kinase by fibroblast growth factor receptors is mediated by coordinated recruitment of multiple docking proteins.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2001", "authors": "Ong SH, Hadari YR, Gotoh N, Guy GR, Schlessinger J, Lax I", "evidence": [ { "database": "Reactome", "id": "R-HSA-5654693", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5654693" } ], "reference": [ { "type": "PubMed", "id": "11353842", "url": "https://glygen.org/publication/PubMed/11353842" } ] }, { "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-5655253", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5655253" } ], "reference": [ { "type": "PubMed", "id": "11429702", "url": "https://glygen.org/publication/PubMed/11429702" } ] }, { "title": "Critical role for the docking-protein FRS2 alpha in FGF receptor-mediated signal transduction pathways.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2001", "authors": "Hadari YR, Gotoh N, Kouhara H, Lax I, Schlessinger J", "evidence": [ { "database": "Reactome", "id": "R-HSA-5654693", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5654693" } ], "reference": [ { "type": "PubMed", "id": "11447289", "url": "https://glygen.org/publication/PubMed/11447289" } ] }, { "title": "Molecular modelling and experimental studies of mutation and cell-adhesion sites in the fibronectin type III and whey acidic protein domains of human anosmin-1.", "journal": "The Biochemical journal", "date": "2001", "authors": "Robertson A, MacColl GS, Nash JA, Boehm MK, Perkins SJ, Bouloux PM", "evidence": [ { "database": "Reactome", "id": "R-HSA-5654726", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5654726" } ], "reference": [ { "type": "PubMed", "id": "11463336", "url": "https://glygen.org/publication/PubMed/11463336" } ] }, { "title": "Evidence for existence of a nuclear pore complex-mediated, cytosol-independent pathway of nuclear translocation of ERK MAP kinase in permeabilized cells.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Matsubayashi Y, Fukuda M, Nishida E", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "11546808", "url": "https://glygen.org/publication/PubMed/11546808" } ] }, { "title": "Unique phosphorylation mechanism of Gab1 using PI 3-kinase as an adaptor protein.", "journal": "Biochemical and biophysical research communications", "date": "2001", "authors": "Onishi-Haraikawa Y, Funaki M, Gotoh N, Shibuya M, Inukai K, Katagiri H, Fukushima Y, Anai M, Ogihara T, Sakoda H, Ono H, Kikuchi M, Oka Y, Asano T", "evidence": [ { "database": "Reactome", "id": "R-HSA-5654689", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5654689" } ], "reference": [ { "type": "PubMed", "id": "11606067", "url": "https://glygen.org/publication/PubMed/11606067" } ] }, { "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-5655302", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5655302" } ], "reference": [ { "type": "PubMed", "id": "11689702", "url": "https://glygen.org/publication/PubMed/11689702" } ] }, { "title": "PEA-15 mediates cytoplasmic sequestration of ERK MAP kinase.", "journal": "Developmental cell", "date": "2001", "authors": "Formstecher E, Ramos JW, Fauquet M, Calderwood DA, Hsieh JC, Canton B, Nguyen XT, Barnier JV, Camonis J, Ginsberg MH, Chneiweiss H", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "11702783", "url": "https://glygen.org/publication/PubMed/11702783" } ] }, { "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-5655302", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5655302" } ], "reference": [ { "type": "PubMed", "id": "11739186", "url": "https://glygen.org/publication/PubMed/11739186" } ] }, { "title": "Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis.", "journal": "American journal of human genetics", "date": "2002", "authors": "Kan SH, Elanko N, Johnson D, Cornejo-Roldan L, Cook J, Reich EW, Tomkins S, Verloes A, Twigg SR, Rannan-Eliya S, McDonald-McGinn DM, Zackai EH, Wall SA, Muenke M, Wilkie AO", "evidence": [ { "database": "Reactome", "id": "R-HSA-1839122", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1839122" } ], "reference": [ { "type": "PubMed", "id": "11781872", "url": "https://glygen.org/publication/PubMed/11781872" } ] }, { "title": "Rac1 and RhoG promote cell survival by the activation of PI3K and Akt, independently of their ability to stimulate JNK and NF-kappaB.", "journal": "Oncogene", "date": "2002", "authors": "Murga C, Zohar M, Teramoto H, Gutkind JS", "evidence": [ { "database": "Reactome", "id": "R-HSA-1257604", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1257604" } ], "reference": [ { "type": "PubMed", "id": "11803464", "url": "https://glygen.org/publication/PubMed/11803464" } ] }, { "title": "FRS2 alpha attenuates FGF receptor signaling by Grb2-mediated recruitment of the ubiquitin ligase Cbl.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2002", "authors": "Wong A, Lamothe B, Lee A, Schlessinger J, Lax I", "evidence": [ { "database": "Reactome", "id": "R-HSA-5654726", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5654726" } ], "reference": [ { "type": "PubMed", "id": "11997436", "url": "https://glygen.org/publication/PubMed/11997436" } ] }, { "title": "Differential activation of cysteine-substitution mutants of fibroblast growth factor receptor 3 is determined by cysteine localization.", "journal": "Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research", "date": "2002", "authors": "Adar R, Monsonego-Ornan E, David P, Yayon A", "evidence": [ { "database": "Reactome", "id": "R-HSA-2033519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2033519" } ], "reference": [ { "type": "PubMed", "id": "12009017", "url": "https://glygen.org/publication/PubMed/12009017" } ] }, { "title": "ERK2 enters the nucleus by a carrier-independent mechanism.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2002", "authors": "Whitehurst AW, Wilsbacher JL, You Y, Luby-Phelps K, Moore MS, Cobb MH", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "12032311", "url": "https://glygen.org/publication/PubMed/12032311" } ] }, { "title": "The phosphatidylinositol 3-Kinase AKT pathway in human cancer.", "journal": "Nature reviews. Cancer", "date": "2002", "authors": "Vivanco I, Sawyers CL", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "12094235", "url": "https://glygen.org/publication/PubMed/12094235" } ] }, { "title": "Induction of chondrogenesis in neural crest cells by mutant fibroblast growth factor receptors.", "journal": "Developmental dynamics : an official publication of the American Association of Anatomists", "date": "2002", "authors": "Petiot A, Ferretti P, Copp AJ, Chan CT", "evidence": [ { "database": "Reactome", "id": "R-HSA-1839122", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1839122" } ], "reference": [ { "type": "PubMed", "id": "12112473", "url": "https://glygen.org/publication/PubMed/12112473" } ] }, { "title": "Activation of phosphoinositide 3-kinase gamma by Ras.", "journal": "Current biology : CB", "date": "2002", "authors": "Suire S, Hawkins P, Stephens L", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "12121613", "url": "https://glygen.org/publication/PubMed/12121613" } ] }, { "title": "Multiple phosphoinositide 3-kinase-dependent steps in activation of protein kinase B.", "journal": "Molecular and cellular biology", "date": "2002", "authors": "Scheid MP, Marignani PA, Woodgett JR", "evidence": [ { "database": "Reactome", "id": "R-HSA-1257604", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1257604" } ], "reference": [ { "type": "PubMed", "id": "12167717", "url": "https://glygen.org/publication/PubMed/12167717" } ] }, { "title": "The docking protein FRS2alpha controls a MAP kinase-mediated negative feedback mechanism for signaling by FGF receptors.", "journal": "Molecular cell", "date": "2002", "authors": "Lax I, Wong A, Lamothe B, Lee A, Frost A, Hawes J, Schlessinger J", "evidence": [ { "database": "Reactome", "id": "R-HSA-5654693", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5654693" } ], "reference": [ { "type": "PubMed", "id": "12419216", "url": "https://glygen.org/publication/PubMed/12419216" } ] }, { "title": "Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome.", "journal": "Nature genetics", "date": "2003", "authors": "Dode C, Levilliers J, Dupont JM, De Paepe A, Le Du N, Soussi-Yanicostas N, Coimbra RS, Delmaghani S, Compain-Nouaille S, Baverel F, Pecheux C, Le Tessier D, Cruaud C, Delpech M, Speleman F, Vermeulen S, Amalfitano A, Bachelot Y, Bouchard P, Cabrol S, Carel JC, Delemarre-van de Waal H, Goulet-Salmon B, Kottler ML, Richard O, Sanchez-Franco F, Saura R, Young J, Petit C, Hardelin JP", "evidence": [ { "database": "Reactome", "id": "R-HSA-5654726", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5654726" } ], "reference": [ { "type": "PubMed", "id": "12627230", "url": "https://glygen.org/publication/PubMed/12627230" } ] }, { "title": "The role of PI3K in immune cells.", "journal": "Nature immunology", "date": "2003", "authors": "Koyasu S", "evidence": [ { "database": "Reactome", "id": "R-HSA-109704", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-109704" } ], "reference": [ { "type": "PubMed", "id": "12660731", "url": "https://glygen.org/publication/PubMed/12660731" } ] }, { "title": "Threonine 308 phosphorylated form of Akt translocates to the nucleus of PC12 cells under nerve growth factor stimulation and associates with the nuclear matrix protein nucleolin.", "journal": "Journal of cellular physiology", "date": "2003", "authors": "Borgatti P, Martelli AM, Tabellini G, Bellacosa A, Capitani S, Neri LM", "evidence": [ { "database": "Reactome", "id": "R-HSA-1257604", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1257604" } ], "reference": [ { "type": "PubMed", "id": "12767043", "url": "https://glygen.org/publication/PubMed/12767043" } ] }, { "title": "Tyrosine phosphorylation of Sprouty2 enhances its interaction with c-Cbl and is crucial for its function.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Fong CW, Leong HF, Wong ES, Lim J, Yusoff P, Guy GR", "evidence": [ { "database": "Reactome", "id": "R-HSA-5654726", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5654726" } ], "reference": [ { "type": "PubMed", "id": "12815057", "url": "https://glygen.org/publication/PubMed/12815057" } ] }, { "title": "EGFR and FGFR signaling through FRS2 is subject to negative feedback control by ERK1/2.", "journal": "Biological chemistry", "date": "2003", "authors": "Wu Y, Chen Z, Ullrich A", "evidence": [ { "database": "Reactome", "id": "R-HSA-5654726", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5654726" } ], "reference": [ { "type": "PubMed", "id": "12974390", "url": "https://glygen.org/publication/PubMed/12974390" } ] }, { "title": "Regulation of protein serine-threonine phosphatase type-2A by tyrosine phosphorylation.", "journal": "Science (New York, N.Y.)", "date": "1992", "authors": "Chen J, Martin BL, Brautigan DL", "evidence": [ { "database": "Reactome", "id": "R-HSA-6811558", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811558" } ], "reference": [ { "type": "PubMed", "id": "1325671", "url": "https://glygen.org/publication/PubMed/1325671" } ] }, { "title": "Point mutation in FGF receptor eliminates phosphatidylinositol hydrolysis without affecting mitogenesis.", "journal": "Nature", "date": "1992", "authors": "Mohammadi M, Dionne CA, Li W, Li N, Spivak T, Honegger AM, Jaye M, Schlessinger J", "evidence": [ { "database": "Reactome", "id": "R-HSA-190322", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-190322" } ], "reference": [ { "type": "PubMed", "id": "1379698", "url": "https://glygen.org/publication/PubMed/1379698" } ] }, { "title": "Insulin and insulinomimetic agents induce activation of phosphatidylinositol 3'-kinase upon its association with pp185 (IRS-1) in intact rat livers.", "journal": "The Journal of biological chemistry", "date": "1992", "authors": "Hadari YR, Tzahar E, Nadiv O, Rothenberg P, Roberts CT Jr, LeRoith D, Yarden Y, Zick Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-109704", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-109704" } ], "reference": [ { "type": "PubMed", "id": "1381348", "url": "https://glygen.org/publication/PubMed/1381348" } ] }, { "title": "PEA-15 binding to ERK1/2 MAPKs is required for its modulation of integrin activation.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Chou FL, Hill JM, Hsieh JC, Pouyssegur J, Brunet A, Glading A, Uberall F, Ramos JW, Werner MH, Ginsberg MH", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "14506247", "url": "https://glygen.org/publication/PubMed/14506247" } ] }, { "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-5654693", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5654693" } ], "reference": [ { "type": "PubMed", "id": "14534538", "url": "https://glygen.org/publication/PubMed/14534538" } ] }, { "title": "Proline to arginine mutations in FGF receptors 1 and 3 result in Pfeiffer and Muenke craniosynostosis syndromes through enhancement of FGF binding affinity.", "journal": "Human molecular genetics", "date": "2004", "authors": "Ibrahimi OA, Zhang F, Eliseenkova AV, Linhardt RJ, Mohammadi M", "evidence": [ { "database": "Reactome", "id": "R-HSA-1839122", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1839122" } ], "reference": [ { "type": "PubMed", "id": "14613973", "url": "https://glygen.org/publication/PubMed/14613973" } ] }, { "title": "The transmembrane protein XFLRT3 forms a complex with FGF receptors and promotes FGF signalling.", "journal": "Nature cell biology", "date": "2004", "authors": "Bottcher RT, Pollet N, Delius H, Niehrs C", "evidence": [ { "database": "Reactome", "id": "R-HSA-5654687", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5654687" } ], "reference": [ { "type": "PubMed", "id": "14688794", "url": "https://glygen.org/publication/PubMed/14688794" } ] }, { "title": "The death effector domain protein PEA-15 prevents nuclear entry of ERK2 by inhibiting required interactions.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Whitehurst AW, Robinson FL, Moore MS, Cobb MH", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "14707138", "url": "https://glygen.org/publication/PubMed/14707138" } ] }, { "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-5655302", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5655302" } ], "reference": [ { "type": "PubMed", "id": "15050920", "url": "https://glygen.org/publication/PubMed/15050920" } ] }, { "title": "FRS2 family docking proteins with overlapping roles in activation of MAP kinase have distinct spatial-temporal patterns of expression of their transcripts.", "journal": "FEBS letters", "date": "2004", "authors": "Gotoh N, Laks S, Nakashima M, Lax I, Schlessinger J", "evidence": [ { "database": "Reactome", "id": "R-HSA-5654693", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5654693" } ], "reference": [ { "type": "PubMed", "id": "15094036", "url": "https://glygen.org/publication/PubMed/15094036" } ] }, { "title": "Biochemical analysis of pathogenic ligand-dependent FGFR2 mutations suggests distinct pathophysiological mechanisms for craniofacial and limb abnormalities.", "journal": "Human molecular genetics", "date": "2004", "authors": "Ibrahimi OA, Zhang F, Eliseenkova AV, Itoh N, Linhardt RJ, Mohammadi M", "evidence": [ { "database": "Reactome", "id": "R-HSA-1839122", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1839122" } ], "reference": [ { "type": "PubMed", "id": "15282208", "url": "https://glygen.org/publication/PubMed/15282208" } ] }, { "title": "Cross-talk of anosmin-1, the protein implicated in X-linked Kallmann's syndrome, with heparan sulphate and urokinase-type plasminogen activator.", "journal": "The Biochemical journal", "date": "2004", "authors": "Hu Y, Gonzalez-Martinez D, Kim SH, Bouloux PM", "evidence": [ { "database": "Reactome", "id": "R-HSA-5654726", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5654726" } ], "reference": [ { "type": "PubMed", "id": "15324302", "url": "https://glygen.org/publication/PubMed/15324302" } ] }, { "title": "Phosphorylation of Grb2-associated binder 2 on serine 623 by ERK MAPK regulates its association with the phosphatase SHP-2 and decreases STAT5 activation.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "2004", "authors": "Arnaud M, Crouin C, Deon C, Loyaux D, Bertoglio J", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "15356145", "url": "https://glygen.org/publication/PubMed/15356145" } ] }, { "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-5655302", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5655302" } ], "reference": [ { "type": "PubMed", "id": "15448205", "url": "https://glygen.org/publication/PubMed/15448205" } ] }, { "title": "Nuclear localization and regulation of erk- and rsk-encoded protein kinases.", "journal": "Molecular and cellular biology", "date": "1992", "authors": "Chen RH, Sarnecki C, Blenis J", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "1545823", "url": "https://glygen.org/publication/PubMed/1545823" } ] }, { "title": "Human hst-2 (FGF-6) oncogene: cDNA cloning and characterization.", "journal": "Oncogene", "date": "1992", "authors": "Iida S, Yoshida T, Naito K, Sakamoto H, Katoh O, Hirohashi S, Sato T, Onda M, Sugimura T, Terada M", "evidence": [ { "database": "UniProtKB", "id": "P10767", "url": "https://www.uniprot.org/uniprot/P10767" } ], "reference": [ { "type": "PubMed", "id": "1549352", "url": "https://glygen.org/publication/PubMed/1549352" } ] }, { "title": "Live Cell Imaging of ERK and MEK: simple binding equilibrium explains the regulated nucleocytoplasmic distribution of ERK.", "journal": "The Journal of biological chemistry", "date": "2005", "authors": "Burack WR, Shaw AS", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "15546878", "url": "https://glygen.org/publication/PubMed/15546878" } ] }, { "title": "Anosmin-1 modulates fibroblast growth factor receptor 1 signaling in human gonadotropin-releasing hormone olfactory neuroblasts through a heparan sulfate-dependent mechanism.", "journal": "The Journal of neuroscience : the official journal of the Society for Neuroscience", "date": "2004", "authors": "Gonzalez-Martinez D, Kim SH, Hu Y, Guimond S, Schofield J, Winyard P, Vannelli GB, Turnbull J, Bouloux PM", "evidence": [ { "database": "Reactome", "id": "R-HSA-5654726", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5654726" } ], "reference": [ { "type": "PubMed", "id": "15548653", "url": "https://glygen.org/publication/PubMed/15548653" } ] }, { "title": "Phosphorylation and regulation of Akt/PKB by the rictor-mTOR complex.", "journal": "Science (New York, N.Y.)", "date": "2005", "authors": "Sarbassov DD, Guertin DA, Ali SM, Sabatini DM", "evidence": [ { "database": "Reactome", "id": "R-HSA-1257604", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1257604" } ], "reference": [ { "type": "PubMed", "id": "15718470", "url": "https://glygen.org/publication/PubMed/15718470" } ] }, { "title": "PI 3-kinase p110beta: a new target for antithrombotic therapy.", "journal": "Nature medicine", "date": "2005", "authors": "Jackson SP, Schoenwaelder SM, Goncalves I, Nesbitt WS, Yap CL, Wright CE, Kenche V, Anderson KE, Dopheide SM, Yuan Y, Sturgeon SA, Prabaharan H, Thompson PE, Smith GD, Shepherd PR, Daniele N, Kulkarni S, Abbott B, Saylik D, Jones C, Lu L, Giuliano S, Hughan SC, Angus JA, Robertson AD, Salem HH", "evidence": [ { "database": "Reactome", "id": "R-HSA-2219530", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2219530" } ], "reference": [ { "type": "PubMed", "id": "15834429", "url": "https://glygen.org/publication/PubMed/15834429" } ] }, { "title": "Structural basis for fibroblast growth factor receptor activation.", "journal": "Cytokine & growth factor reviews", "date": "2005", "authors": "Mohammadi M, Olsen SK, Ibrahimi OA", "evidence": [ { "database": "Reactome", "id": "R-HSA-190373", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-190373" } ], "reference": [ { "type": "PubMed", "id": "15863029", "url": "https://glygen.org/publication/PubMed/15863029" } ] }, { "title": "Cellular signaling by fibroblast growth factor receptors.", "journal": "Cytokine & growth factor reviews", "date": "2005", "authors": "Eswarakumar VP, Lax I, Schlessinger J", "evidence": [ { "database": "Reactome", "id": "R-HSA-5654689", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5654689" } ], "reference": [ { "type": "PubMed", "id": "15863030", "url": "https://glygen.org/publication/PubMed/15863030" } ] }, { "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": "Somatic mutations of the protein kinase gene family in human lung cancer.", "journal": "Cancer research", "date": "2005", "authors": "Davies H, Hunter C, Smith R, Stephens P, Greenman C, Bignell G, Teague J, Butler A, Edkins S, Stevens C, Parker A, O'Meara S, Avis T, Barthorpe S, Brackenbury L, Buck G, Clements J, Cole J, Dicks E, Edwards K, Forbes S, Gorton M, Gray K, Halliday K, Harrison R, Hills K, Hinton J, Jones D, Kosmidou V, Laman R, Lugg R, Menzies A, Perry J, Petty R, Raine K, Shepherd R, Small A, Solomon H, Stephens Y, Tofts C, Varian J, Webb A, West S, Widaa S, Yates A, Brasseur F, Cooper CS, Flanagan AM, Green A, Knowles M, Leung SY, Looijenga LH, Malkowicz B, Pierotti MA, Teh BT, Yuen ST, Lakhani SR, Easton DF, Weber BL, Goldstraw P, Nicholson AG, Wooster R, Stratton MR, Futreal PA", "evidence": [ { "database": "Reactome", "id": "R-HSA-1839122", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1839122" } ], "reference": [ { "type": "PubMed", "id": "16140923", "url": "https://glygen.org/publication/PubMed/16140923" } ] }, { "title": "Sequence survey of receptor tyrosine kinases reveals mutations in glioblastomas.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2005", "authors": "Rand V, Huang J, Stockwell T, Ferriera S, Buzko O, Levy S, Busam D, Li K, Edwards JB, Eberhart C, Murphy KM, Tsiamouri A, Beeson K, Simpson AJ, Venter JC, Riggins GJ, Strausberg RL", "evidence": [ { "database": "Reactome", "id": "R-HSA-1839122", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1839122" } ], "reference": [ { "type": "PubMed", "id": "16186508", "url": "https://glygen.org/publication/PubMed/16186508" } ] }, { "title": "The oncogenic properties of mutant p110alpha and p110beta phosphatidylinositol 3-kinases in human mammary epithelial cells.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2005", "authors": "Zhao JJ, Liu Z, Wang L, Shin E, Loda MF, Roberts TM", "evidence": [ { "database": "Reactome", "id": "R-HSA-2219530", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2219530" } ], "reference": [ { "type": "PubMed", "id": "16339315", "url": "https://glygen.org/publication/PubMed/16339315" } ] }, { "title": "B56-containing PP2A dephosphorylate ERK and their activity is controlled by the early gene IEX-1 and ERK.", "journal": "The EMBO journal", "date": "2006", "authors": "Letourneux C, Rocher G, Porteu F", "evidence": [ { "database": "Reactome", "id": "R-HSA-6811558", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811558" } ], "reference": [ { "type": "PubMed", "id": "16456541", "url": "https://glygen.org/publication/PubMed/16456541" } ] }, { "title": "Autophosphorylation of FGFR1 kinase is mediated by a sequential and precisely ordered reaction.", "journal": "Molecular cell", "date": "2006", "authors": "Furdui CM, Lew ED, Schlessinger J, Anderson KS", "evidence": [ { "database": "Reactome", "id": "R-HSA-190373", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-190373" } ], "reference": [ { "type": "PubMed", "id": "16507368", "url": "https://glygen.org/publication/PubMed/16507368" } ] }, { "title": "A tyrosine-phosphorylated carboxy-terminal peptide of the fibroblast growth factor receptor (Flg) is a binding site for the SH2 domain of phospholipase C-gamma 1.", "journal": "Molecular and cellular biology", "date": "1991", "authors": "Mohammadi M, Honegger AM, Rotin D, Fischer R, Bellot F, Li W, Dionne CA, Jaye M, Rubinstein M, Schlessinger J", "evidence": [ { "database": "Reactome", "id": "R-HSA-190322", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-190322" } ], "reference": [ { "type": "PubMed", "id": "1656221", "url": "https://glygen.org/publication/PubMed/1656221" } ] }, { "title": "Receptor specificity of the fibroblast growth factor family. The complete mammalian FGF family.", "journal": "The Journal of biological chemistry", "date": "2006", "authors": "Zhang X, Ibrahimi OA, Olsen SK, Umemori H, Mohammadi M, Ornitz DM", "evidence": [ { "database": "Reactome", "id": "R-HSA-190373", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-190373" } ], "reference": [ { "type": "PubMed", "id": "16597617", "url": "https://glygen.org/publication/PubMed/16597617" } ] }, { "title": "Roles of tyrosine 589 and 591 in STAT5 activation and transformation mediated by FLT3-ITD.", "journal": "Blood", "date": "2006", "authors": "Rocnik JL, Okabe R, Yu JC, Lee BH, Giese N, Schenkein DP, Gilliland DG", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "16627759", "url": "https://glygen.org/publication/PubMed/16627759" } ] }, { "title": "A pharmacological map of the PI3-K family defines a role for p110alpha in insulin signaling.", "journal": "Cell", "date": "2006", "authors": "Knight ZA, Gonzalez B, Feldman ME, Zunder ER, Goldenberg DD, Williams O, Loewith R, Stokoe D, Balla A, Toth B, Balla T, Weiss WA, Williams RL, Shokat KM", "evidence": [ { "database": "Reactome", "id": "R-HSA-2219530", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2219530" } ], "reference": [ { "type": "PubMed", "id": "16647110", "url": "https://glygen.org/publication/PubMed/16647110" } ] }, { "title": "Identification of Y589 and Y599 in the juxtamembrane domain of Flt3 as ligand-induced autophosphorylation sites involved in binding of Src family kinases and the protein tyrosine phosphatase SHP2.", "journal": "Blood", "date": "2006", "authors": "Heiss E, Masson K, Sundberg C, Pedersen M, Sun J, Bengtsson S, Ronnstrand L", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "16684964", "url": "https://glygen.org/publication/PubMed/16684964" } ] }, { "title": "Mutations in fibroblast growth factor receptor 1 cause Kallmann syndrome with a wide spectrum of reproductive phenotypes.", "journal": "Molecular and cellular endocrinology", "date": "2006", "authors": "Pitteloud N, Meysing A, Quinton R, Acierno JS Jr, Dwyer AA, Plummer L, Fliers E, Boepple P, Hayes F, Seminara S, Hughes VA, Ma J, Bouloux P, Mohammadi M, Crowley WF Jr", "evidence": [ { "database": "Reactome", "id": "R-HSA-5654726", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5654726" } ], "reference": [ { "type": "PubMed", "id": "16764984", "url": "https://glygen.org/publication/PubMed/16764984" } ] }, { "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": "https://glygen.org/publication/PubMed/16844695" } ] }, { "title": "The evolution of phosphatidylinositol 3-kinases as regulators of growth and metabolism.", "journal": "Nature reviews. Genetics", "date": "2006", "authors": "Engelman JA, Luo J, Cantley LC", "evidence": [ { "database": "Reactome", "id": "R-HSA-109704", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-109704" } ], "reference": [ { "type": "PubMed", "id": "16847462", "url": "https://glygen.org/publication/PubMed/16847462" } ] }, { "title": "Regulated expression of FLRT genes implies a functional role in the regulation of FGF signalling during mouse development.", "journal": "Developmental biology", "date": "2006", "authors": "Haines BP, Wheldon LM, Summerbell D, Heath JK, Rigby PW", "evidence": [ { "database": "Reactome", "id": "R-HSA-5654687", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5654687" } ], "reference": [ { "type": "PubMed", "id": "16872596", "url": "https://glygen.org/publication/PubMed/16872596" } ] }, { "title": "Cloning and expression of two distinct high-affinity receptors cross-reacting with acidic and basic fibroblast growth factors.", "journal": "The EMBO journal", "date": "1990", "authors": "Dionne CA, Crumley G, Bellot F, Kaplow JM, Searfoss G, Ruta M, Burgess WH, Jaye M, Schlessinger J", "evidence": [ { "database": "Reactome", "id": "R-HSA-190375", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-190375" } ], "reference": [ { "type": "PubMed", "id": "1697263", "url": "https://glygen.org/publication/PubMed/1697263" } ] }, { "title": "Association of p21ras with phosphatidylinositol 3-kinase.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1991", "authors": "Sjolander A, Yamamoto K, Huber BE, Lapetina EG", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "1716764", "url": "https://glygen.org/publication/PubMed/1716764" } ] }, { "title": "Inhibition of B56-containing protein phosphatase 2As by the early response gene IEX-1 leads to control of Akt activity.", "journal": "The Journal of biological chemistry", "date": "2007", "authors": "Rocher G, Letourneux C, Lenormand P, Porteu F", "evidence": [ { "database": "Reactome", "id": "R-HSA-6811558", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811558" } ], "reference": [ { "type": "PubMed", "id": "17200115", "url": "https://glygen.org/publication/PubMed/17200115" } ] }, { "title": "The role of Shp2 (PTPN11) in cancer.", "journal": "Current opinion in genetics & development", "date": "2007", "authors": "Mohi MG, Neel BG", "evidence": [ { "database": "Reactome", "id": "R-HSA-5654712", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5654712" } ], "reference": [ { "type": "PubMed", "id": "17227708", "url": "https://glygen.org/publication/PubMed/17227708" } ] }, { "title": "Patterns of somatic mutation in human cancer genomes.", "journal": "Nature", "date": "2007", "authors": "Greenman C, Stephens P, Smith R, Dalgliesh GL, Hunter C, Bignell G, Davies H, Teague J, Butler A, Stevens C, Edkins S, O'Meara S, Vastrik I, Schmidt EE, Avis T, Barthorpe S, Bhamra G, Buck G, Choudhury B, Clements J, Cole J, Dicks E, Forbes S, Gray K, Halliday K, Harrison R, Hills K, Hinton J, Jenkinson A, Jones D, Menzies A, Mironenko T, Perry J, Raine K, Richardson D, Shepherd R, Small A, Tofts C, Varian J, Webb T, West S, Widaa S, Yates A, Cahill DP, Louis DN, Goldstraw P, Nicholson AG, Brasseur F, Looijenga L, Weber BL, Chiew YE, DeFazio A, Greaves MF, Green AR, Campbell P, Birney E, Easton DF, Chenevix-Trench G, Tan MH, Khoo SK, Teh BT, Yuen ST, Leung SY, Wooster R, Futreal PA, Stratton MR", "evidence": [ { "database": "Reactome", "id": "R-HSA-2033519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2033519" } ], "reference": [ { "type": "PubMed", "id": "17344846", "url": "https://glygen.org/publication/PubMed/17344846" } ] }, { "title": "AZD2171 shows potent antitumor activity against gastric cancer over-expressing fibroblast growth factor receptor 2/keratinocyte growth factor receptor.", "journal": "Clinical cancer research : an official journal of the American Association for Cancer Research", "date": "2007", "authors": "Takeda M, Arao T, Yokote H, Komatsu T, Yanagihara K, Sasaki H, Yamada Y, Tamura T, Fukuoka K, Kimura H, Saijo N, Nishio K", "evidence": [ { "database": "Reactome", "id": "R-HSA-5655302", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5655302" } ], "reference": [ { "type": "PubMed", "id": "17505008", "url": "https://glygen.org/publication/PubMed/17505008" } ] }, { "title": "Frequent activating FGFR2 mutations in endometrial carcinomas parallel germline mutations associated with craniosynostosis and skeletal dysplasia syndromes.", "journal": "Oncogene", "date": "2007", "authors": "Pollock PM, Gartside MG, Dejeza LC, Powell MA, Mallon MA, Davies H, Mohammadi M, Futreal PA, Stratton MR, Trent JM, Goodfellow PJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-1839122", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1839122" } ], "reference": [ { "type": "PubMed", "id": "17525745", "url": "https://glygen.org/publication/PubMed/17525745" } ] }, { "title": "Syndromic craniosynostosis: from history to hydrogen bonds.", "journal": "Orthodontics & craniofacial research", "date": "2007", "authors": "Cunningham ML, Seto ML, Ratisoontorn C, Heike CL, Hing AV", "evidence": [ { "database": "Reactome", "id": "R-HSA-2033519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2033519" } ], "reference": [ { "type": "PubMed", "id": "17552943", "url": "https://glygen.org/publication/PubMed/17552943" } ] }, { "title": "Mechanism of two classes of cancer mutations in the phosphoinositide 3-kinase catalytic subunit.", "journal": "Science (New York, N.Y.)", "date": "2007", "authors": "Miled N, Yan Y, Hon WC, Perisic O, Zvelebil M, Inbar Y, Schneidman-Duhovny D, Wolfson HJ, Backer JM, Williams RL", "evidence": [ { "database": "Reactome", "id": "R-HSA-2219530", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2219530" } ], "reference": [ { "type": "PubMed", "id": "17626883", "url": "https://glygen.org/publication/PubMed/17626883" } ] }, { "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-5655302", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5655302" } ], "reference": [ { "type": "PubMed", "id": "17698633", "url": "https://glygen.org/publication/PubMed/17698633" } ] }, { "title": "A molecular brake in the kinase hinge region regulates the activity of receptor tyrosine kinases.", "journal": "Molecular cell", "date": "2007", "authors": "Chen H, Ma J, Li W, Eliseenkova AV, Xu C, Neubert TA, Miller WT, Mohammadi M", "evidence": [ { "database": "Reactome", "id": "R-HSA-2033519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2033519" } ], "reference": [ { "type": "PubMed", "id": "17803937", "url": "https://glygen.org/publication/PubMed/17803937" } ] }, { "title": "Oncogenic signaling of class I PI3K isoforms.", "journal": "Oncogene", "date": "2008", "authors": "Denley A, Kang S, Karst U, Vogt PK", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "17998941", "url": "https://glygen.org/publication/PubMed/17998941" } ] }, { "title": "Genetic alterations in the tyrosine kinase transcriptome of human cancer cell lines.", "journal": "Cancer research", "date": "2007", "authors": "Ruhe JE, Streit S, Hart S, Wong CH, Specht K, Knyazev P, Knyazeva T, Tay LS, Loo HL, Foo P, Wong W, Pok S, Lim SJ, Ong H, Luo M, Ho HK, Peng K, Lee TC, Bezler M, Mann C, Gaertner S, Hoefler H, Iacobelli S, Peter S, Tay A, Brenner S, Venkatesh B, Ullrich A", "evidence": [ { "database": "Reactome", "id": "R-HSA-1839122", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1839122" } ], "reference": [ { "type": "PubMed", "id": "18056464", "url": "https://glygen.org/publication/PubMed/18056464" } ] }, { "title": "The structure of a human p110alpha/p85alpha complex elucidates the effects of oncogenic PI3Kalpha mutations.", "journal": "Science (New York, N.Y.)", "date": "2007", "authors": "Huang CH, Mandelker D, Schmidt-Kittler O, Samuels Y, Velculescu VE, Kinzler KW, Vogelstein B, Gabelli SB, Amzel LM", "evidence": [ { "database": "Reactome", "id": "R-HSA-2219530", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2219530" } ], "reference": [ { "type": "PubMed", "id": "18079394", "url": "https://glygen.org/publication/PubMed/18079394" } ] }, { "title": "Mutations in the catalytic subunit of class IA PI3K confer leukemogenic potential to hematopoietic cells.", "journal": "Oncogene", "date": "2008", "authors": "Horn S, Bergholz U, Jucker M, McCubrey JA, Trumper L, Stocking C, Basecke J", "evidence": [ { "database": "Reactome", "id": "R-HSA-2219530", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2219530" } ], "reference": [ { "type": "PubMed", "id": "18317450", "url": "https://glygen.org/publication/PubMed/18317450" } ] }, { "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-5654700", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5654700" } ], "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-5655302", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5655302" } ], "reference": [ { "type": "PubMed", "id": "18412956", "url": "https://glygen.org/publication/PubMed/18412956" } ] }, { "title": "Regulation of growth factor signaling by FRS2 family docking/scaffold adaptor proteins.", "journal": "Cancer science", "date": "2008", "authors": "Gotoh N", "evidence": [ { "database": "Reactome", "id": "R-HSA-5654712", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5654712" } ], "reference": [ { "type": "PubMed", "id": "18452557", "url": "https://glygen.org/publication/PubMed/18452557" } ] }, { "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-1839122", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1839122" } ], "reference": [ { "type": "PubMed", "id": "18552176", "url": "https://glygen.org/publication/PubMed/18552176" } ] }, { "title": "Essential roles of PI(3)K-p110beta in cell growth, metabolism and tumorigenesis.", "journal": "Nature", "date": "2008", "authors": "Jia S, Liu Z, Zhang S, Liu P, Zhang L, Lee SH, Zhang J, Signoretti S, Loda M, Roberts TM, Zhao JJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-2219530", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2219530" } ], "reference": [ { "type": "PubMed", "id": "18594509", "url": "https://glygen.org/publication/PubMed/18594509" } ] }, { "title": "Identification and characterization of NVP-BEZ235, a new orally available dual phosphatidylinositol 3-kinase/mammalian target of rapamycin inhibitor with potent in vivo antitumor activity.", "journal": "Molecular cancer therapeutics", "date": "2008", "authors": "Maira SM, Stauffer F, Brueggen J, Furet P, Schnell C, Fritsch C, Brachmann S, Chene P, De Pover A, Schoemaker K, Fabbro D, Gabriel D, Simonen M, Murphy L, Finan P, Sellers W, Garcia-Echeverria C", "evidence": [ { "database": "Reactome", "id": "R-HSA-2219530", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2219530" } ], "reference": [ { "type": "PubMed", "id": "18606717", "url": "https://glygen.org/publication/PubMed/18606717" } ] }, { "title": "The identification of 2-(1H-indazol-4-yl)-6-(4-methanesulfonyl-piperazin-1-ylmethyl)-4-morpholin-4-yl-t hieno[3,2-d]pyrimidine (GDC-0941) as a potent, selective, orally bioavailable inhibitor of class I PI3 kinase for the treatment of cancer .", "journal": "Journal of medicinal chemistry", "date": "2008", "authors": "Folkes AJ, Ahmadi K, Alderton WK, Alix S, Baker SJ, Box G, Chuckowree IS, Clarke PA, Depledge P, Eccles SA, Friedman LS, Hayes A, Hancox TC, Kugendradas A, Lensun L, Moore P, Olivero AG, Pang J, Patel S, Pergl-Wilson GH, Raynaud FI, Robson A, Saghir N, Salphati L, Sohal S, Ultsch MH, Valenti M, Wallweber HJ, Wan NC, Wiesmann C, Workman P, Zhyvoloup A, Zvelebil MJ, Shuttleworth SJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-2219530", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2219530" } ], "reference": [ { "type": "PubMed", "id": "18754654", "url": "https://glygen.org/publication/PubMed/18754654" } ] }, { "title": "PTEN-deficient cancers depend on PIK3CB.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Wee S, Wiederschain D, Maira SM, Loo A, Miller C, deBeaumont R, Stegmeier F, Yao YM, Lengauer C", "evidence": [ { "database": "Reactome", "id": "R-HSA-2219530", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2219530" } ], "reference": [ { "type": "PubMed", "id": "18755892", "url": "https://glygen.org/publication/PubMed/18755892" } ] }, { "title": "Inhibition of activated fibroblast growth factor receptor 2 in endometrial cancer cells induces cell death despite PTEN abrogation.", "journal": "Cancer research", "date": "2008", "authors": "Byron SA, Gartside MG, Wellens CL, Mallon MA, Keenan JB, Powell MA, Goodfellow PJ, Pollock PM", "evidence": [ { "database": "Reactome", "id": "R-HSA-2033519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2033519" } ], "reference": [ { "type": "PubMed", "id": "18757403", "url": "https://glygen.org/publication/PubMed/18757403" } ] }, { "title": "Comprehensive genomic characterization defines human glioblastoma genes and core pathways.", "journal": "Nature", "date": "2008", "authors": "McLendon R, Friedman A, Bigner D, Van Meir EG, Brat DJ, Mastrogianakis GM, Olson JJ, Mikkelsen T, Lehman N, Aldape K, Yung WK, Bogler O, Weinstein JN, VandenBerg S, Berger M, Prados M, Muzny D, Morgan M, Scherer S, Sabo A, Nazareth L, Lewis L, Hall O, Zhu Y, Ren Y, Alvi O, Yao J, Hawes A, Jhangiani S, Fowler G, San Lucas A, Kovar C, Cree A, Dinh H, Santibanez J, Joshi V, Gonzalez-Garay ML, Miller CA, Milosavljevic A, Donehower L, Wheeler DA, Gibbs RA, Cibulskis K, Sougnez C, Fennell T, Mahan S, Wilkinson J, Ziaugra L, Onofrio R, Bloom T, Nicol R, Ardlie K, Baldwin J, Gabriel S, Lander ES, Ding L, Fulton RS, McLellan MD, Wallis J, Larson DE, Shi X, Abbott R, Fulton L, Chen K, Koboldt DC, Wendl MC, Meyer R, Tang Y, Lin L, Osborne JR, Dunford-Shore BH, Miner TL, Delehaunty K, Markovic C, Swift G, Courtney W, Pohl C, Abbott S, Hawkins A, Leong S, Haipek C, Schmidt H, Wiechert M, Vickery T, Scott S, Dooling DJ, Chinwalla A, Weinstock GM, Mardis ER, Wilson RK, Getz G, Winckler W, Verhaak RG, Lawrence MS, O'Kelly M, Robinson J, Alexe G, Beroukhim R, Carter S, Chiang D, Gould J, Gupta S, Korn J, Mermel C, Mesirov J, Monti S, Nguyen H, Parkin M, Reich M, Stransky N, Weir BA, Garraway L, Golub T, Meyerson M, Chin L, Protopopov A, Zhang J, Perna I, Aronson S, Sathiamoorthy N, Ren G, Yao J, Wiedemeyer WR, Kim H, Kong SW, Xiao Y, Kohane IS, Seidman J, Park PJ, Kucherlapati R, Laird PW, Cope L, Herman JG, Weisenberger DJ, Pan F, Van den Berg D, Van Neste L, Yi JM, Schuebel KE, Baylin SB, Absher DM, Li JZ, Southwick A, Brady S, Aggarwal A, Chung T, Sherlock G, Brooks JD, Myers RM, Spellman PT, Purdom E, Jakkula LR, Lapuk AV, Marr H, Dorton S, Choi YG, Han J, Ray A, Wang V, Durinck S, Robinson M, Wang NJ, Vranizan K, Peng V, Van Name E, Fontenay GV, Ngai J, Conboy JG, Parvin B, Feiler HS, Speed TP, Gray JW, Brennan C, Socci ND, Olshen A, Taylor BS, Lash A, Schultz N, Reva B, Antipin Y, Stukalov A, Gross B, Cerami E, Wang WQ, Qin LX, Seshan VE, Villafania L, Cavatore M, Borsu L, Viale A, Gerald W, Sander C, Ladanyi M, Perou CM, Hayes DN, Topal MD, Hoadley KA, Qi Y, Balu S, Shi Y, Wu J, Penny R, Bittner M, Shelton T, Lenkiewicz E, Morris S, Beasley D, Sanders S, Kahn A, Sfeir R, Chen J, Nassau D, Feng L, Hickey E, Barker A, Gerhard DS, Vockley J, Compton C, Vaught J, Fielding P, Ferguson ML, Schaefer C, Zhang J, Madhavan S, Buetow KH, Collins F, Good P, Guyer M, Ozenberger B, Peterson J, Thomson E", "evidence": [ { "database": "Reactome", "id": "R-HSA-1839122", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1839122" } ], "reference": [ { "type": "PubMed", "id": "18772890", "url": "https://glygen.org/publication/PubMed/18772890" } ] }, { "title": "Essential role of ERK dimers in the activation of cytoplasmic but not nuclear substrates by ERK-scaffold complexes.", "journal": "Molecular cell", "date": "2008", "authors": "Casar B, Pinto A, Crespo P", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "18775330", "url": "https://glygen.org/publication/PubMed/18775330" } ] }, { "title": "NVP-BEZ235, a dual PI3K/mTOR inhibitor, prevents PI3K signaling and inhibits the growth of cancer cells with activating PI3K mutations.", "journal": "Cancer research", "date": "2008", "authors": "Serra V, Markman B, Scaltriti M, Eichhorn PJ, Valero V, Guzman M, Botero ML, Llonch E, Atzori F, Di Cosimo S, Maira M, Garcia-Echeverria C, Parra JL, Arribas J, Baselga J", "evidence": [ { "database": "Reactome", "id": "R-HSA-2219530", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2219530" } ], "reference": [ { "type": "PubMed", "id": "18829560", "url": "https://glygen.org/publication/PubMed/18829560" } ] }, { "title": "Indirect recruitment of the signalling adaptor Shc to the fibroblast growth factor receptor 2 (FGFR2).", "journal": "The Biochemical journal", "date": "2008", "authors": "Schuller AC, Ahmed Z, Levitt JA, Suen KM, Suhling K, Ladbury JE", "evidence": [ { "database": "Reactome", "id": "R-HSA-5654699", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5654699" } ], "reference": [ { "type": "PubMed", "id": "18840094", "url": "https://glygen.org/publication/PubMed/18840094" } ] }, { "title": "Putative structure of the FGF6 gene product and role of the signal peptide.", "journal": "Oncogene", "date": "1991", "authors": "Coulier F, Batoz M, Marics I, de Lapeyriere O, Birnbaum D", "evidence": [ { "database": "UniProtKB", "id": "P10767", "url": "https://www.uniprot.org/uniprot/P10767" } ], "reference": [ { "type": "PubMed", "id": "1886714", "url": "https://glygen.org/publication/PubMed/1886714" } ] }, { "title": "mTOR complex 2 (mTORC2) controls hydrophobic motif phosphorylation and activation of serum- and glucocorticoid-induced protein kinase 1 (SGK1).", "journal": "The Biochemical journal", "date": "2008", "authors": "Garcia-Martinez JM, Alessi DR", "evidence": [ { "database": "Reactome", "id": "R-HSA-1257604", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1257604" } ], "reference": [ { "type": "PubMed", "id": "18925875", "url": "https://glygen.org/publication/PubMed/18925875" } ] }, { "title": "Kallmann syndrome.", "journal": "European journal of human genetics : EJHG", "date": "2009", "authors": "Dode C, Hardelin JP", "evidence": [ { "database": "Reactome", "id": "R-HSA-5654726", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5654726" } ], "reference": [ { "type": "PubMed", "id": "18985070", "url": "https://glygen.org/publication/PubMed/18985070" } ] }, { "title": "The GTPase superfamily: conserved structure and molecular mechanism.", "journal": "Nature", "date": "1991", "authors": "Bourne HR, Sanders DA, McCormick F", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "1898771", "url": "https://glygen.org/publication/PubMed/1898771" } ] }, { "title": "Aberrant receptor internalization and enhanced FRS2-dependent signaling contribute to the transforming activity of the fibroblast growth factor receptor 2 IIIb C3 isoform.", "journal": "The Journal of biological chemistry", "date": "2009", "authors": "Cha JY, Maddileti S, Mitin N, Harden TK, Der CJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-5655253", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5655253" } ], "reference": [ { "type": "PubMed", "id": "19103595", "url": "https://glygen.org/publication/PubMed/19103595" } ] }, { "title": "Loss-of-function fibroblast growth factor receptor-2 mutations in melanoma.", "journal": "Molecular cancer research : MCR", "date": "2009", "authors": "Gartside MG, Chen H, Ibrahimi OA, Byron SA, Curtis AV, Wellens CL, Bengston A, Yudt LM, Eliseenkova AV, Ma J, Curtin JA, Hyder P, Harper UL, Riedesel E, Mann GJ, Trent JM, Bastian BC, Meltzer PS, Mohammadi M, Pollock PM", "evidence": [ { "database": "Reactome", "id": "R-HSA-5655302", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5655302" } ], "reference": [ { "type": "PubMed", "id": "19147536", "url": "https://glygen.org/publication/PubMed/19147536" } ] }, { "title": "PI 3-kinase and cancer: changing accents.", "journal": "Current opinion in genetics & development", "date": "2009", "authors": "Vogt PK, Gymnopoulos M, Hart JR", "evidence": [ { "database": "Reactome", "id": "R-HSA-2219530", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2219530" } ], "reference": [ { "type": "PubMed", "id": "19185485", "url": "https://glygen.org/publication/PubMed/19185485" } ] }, { "title": "Prominent expression of FRS2beta protein in neural cells and its association with intracellular vesicles.", "journal": "FEBS letters", "date": "2009", "authors": "Minegishi Y, Iwanari H, Mochizuki Y, Horii T, Hoshino T, Kodama T, Hamakubo T, Gotoh N", "evidence": [ { "database": "Reactome", "id": "R-HSA-5654693", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5654693" } ], "reference": [ { "type": "PubMed", "id": "19187780", "url": "https://glygen.org/publication/PubMed/19187780" } ] }, { "title": "The precise sequence of FGF receptor autophosphorylation is kinetically driven and is disrupted by oncogenic mutations.", "journal": "Science signaling", "date": "2009", "authors": "Lew ED, Furdui CM, Anderson KS, Schlessinger J", "evidence": [ { "database": "Reactome", "id": "R-HSA-1839122", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1839122" } ], "reference": [ { "type": "PubMed", "id": "19224897", "url": "https://glygen.org/publication/PubMed/19224897" } ] }, { "title": "ERK dimers and scaffold proteins: unexpected partners for a forgotten (cytoplasmic) task.", "journal": "Cell cycle (Georgetown, Tex.)", "date": "2009", "authors": "Casar B, Pinto A, Crespo P", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "19279408", "url": "https://glygen.org/publication/PubMed/19279408" } ] }, { "title": "Antibody-based targeting of FGFR3 in bladder carcinoma and t(4;14)-positive multiple myeloma in mice.", "journal": "The Journal of clinical investigation", "date": "2009", "authors": "Qing J, Du X, Chen Y, Chan P, Li H, Wu P, Marsters S, Stawicki S, Tien J, Totpal K, Ross S, Stinson S, Dornan D, French D, Wang QR, Stephan JP, Wu Y, Wiesmann C, Ashkenazi A", "evidence": [ { "database": "Reactome", "id": "R-HSA-5655253", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5655253" } ], "reference": [ { "type": "PubMed", "id": "19381019", "url": "https://glygen.org/publication/PubMed/19381019" } ] }, { "title": "Ligand-independent HER2/HER3/PI3K complex is disrupted by trastuzumab and is effectively inhibited by the PI3K inhibitor GDC-0941.", "journal": "Cancer cell", "date": "2009", "authors": "Junttila TT, Akita RW, Parsons K, Fields C, Lewis Phillips GD, Friedman LS, Sampath D, Sliwkowski MX", "evidence": [ { "database": "Reactome", "id": "R-HSA-2219530", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2219530" } ], "reference": [ { "type": "PubMed", "id": "19411071", "url": "https://glygen.org/publication/PubMed/19411071" } ] }, { "title": "A role of Gab2 association in Flt3 ITD mediated Stat5 phosphorylation and cell survival.", "journal": "British journal of haematology", "date": "2009", "authors": "Masson K, Liu T, Khan R, Sun J, Ronnstrand L", "evidence": [ { "database": "Reactome", "id": "R-HSA-109704", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-109704" } ], "reference": [ { "type": "PubMed", "id": "19438505", "url": "https://glygen.org/publication/PubMed/19438505" } ] }, { "title": "PtdIns5P protects Akt from dephosphorylation through PP2A inhibition.", "journal": "Biochemical and biophysical research communications", "date": "2009", "authors": "Ramel D, Lagarrigue F, Dupuis-Coronas S, Chicanne G, Leslie N, Gaits-Iacovoni F, Payrastre B, Tronchere H", "evidence": [ { "database": "Reactome", "id": "R-HSA-6811558", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811558" } ], "reference": [ { "type": "PubMed", "id": "19576174", "url": "https://glygen.org/publication/PubMed/19576174" } ] }, { "title": "Targeting the phosphoinositide 3-kinase pathway in cancer.", "journal": "Nature reviews. Drug discovery", "date": "2009", "authors": "Liu P, Cheng H, Roberts TM, Zhao JJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-2219530", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2219530" } ], "reference": [ { "type": "PubMed", "id": "19644473", "url": "https://glygen.org/publication/PubMed/19644473" } ] }, { "title": "FGF-receptor substrate 2 functions as a molecular sensor integrating external regulatory signals into the FGF pathway.", "journal": "Cell research", "date": "2009", "authors": "Zhou W, Feng X, Wu Y, Benge J, Zhang Z, Chen Z", "evidence": [ { "database": "Reactome", "id": "R-HSA-5654726", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5654726" } ], "reference": [ { "type": "PubMed", "id": "19652666", "url": "https://glygen.org/publication/PubMed/19652666" } ] }, { "title": "Novel mechanisms of fibroblast growth factor receptor 1 regulation by extracellular matrix protein anosmin-1.", "journal": "The Journal of biological chemistry", "date": "2009", "authors": "Hu Y, Guimond SE, Travers P, Cadman S, Hohenester E, Turnbull JE, Kim SH, Bouloux PM", "evidence": [ { "database": "Reactome", "id": "R-HSA-5654726", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5654726" } ], "reference": [ { "type": "PubMed", "id": "19696444", "url": "https://glygen.org/publication/PubMed/19696444" } ] }, { "title": "Mutant fibroblast growth factor receptor 3 induces intracellular signaling and cellular transformation in a cell type- and mutation-specific manner.", "journal": "Oncogene", "date": "2009", "authors": "di Martino E, L'Hote CG, Kennedy W, Tomlinson DC, Knowles MA", "evidence": [ { "database": "Reactome", "id": "R-HSA-5655302", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5655302" } ], "reference": [ { "type": "PubMed", "id": "19749790", "url": "https://glygen.org/publication/PubMed/19749790" } ] }, { "title": "A frequent kinase domain mutation that changes the interaction between PI3Kalpha and the membrane.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2009", "authors": "Mandelker D, Gabelli SB, Schmidt-Kittler O, Zhu J, Cheong I, Huang CH, Kinzler KW, Vogelstein B, Amzel LM", "evidence": [ { "database": "Reactome", "id": "R-HSA-109704", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-109704" } ], "reference": [ { "type": "PubMed", "id": "19805105", "url": "https://glygen.org/publication/PubMed/19805105" } ] }, { "title": "Identification of FGFR4-activating mutations in human rhabdomyosarcomas that promote metastasis in xenotransplanted models.", "journal": "The Journal of clinical investigation", "date": "2009", "authors": "Taylor JG 6th, Cheuk AT, Tsang PS, Chung JY, Song YK, Desai K, Yu Y, Chen QR, Shah K, Youngblood V, Fang J, Kim SY, Yeung C, Helman LJ, Mendoza A, Ngo V, Staudt LM, Wei JS, Khanna C, Catchpoole D, Qualman SJ, Hewitt SM, Merlino G, Chanock SJ, Khan J", "evidence": [ { "database": "Reactome", "id": "R-HSA-5655302", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5655302" } ], "reference": [ { "type": "PubMed", "id": "19809159", "url": "https://glygen.org/publication/PubMed/19809159" } ] }, { "title": "ERK nuclear translocation is dimerization-independent but controlled by the rate of phosphorylation.", "journal": "The Journal of biological chemistry", "date": "2010", "authors": "Lidke DS, Huang F, Post JN, Rieger B, Wilsbacher J, Thomas JL, Pouyssegur J, Jovin TM, Lenormand P", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "19920141", "url": "https://glygen.org/publication/PubMed/19920141" } ] }, { "title": "The FGFR4 Y367C mutant is a dominant oncogene in MDA-MB453 breast cancer cells.", "journal": "Oncogene", "date": "2010", "authors": "Roidl A, Foo P, Wong W, Mann C, Bechtold S, Berger HJ, Streit S, Ruhe JE, Hart S, Ullrich A, Ho HK", "evidence": [ { "database": "Reactome", "id": "R-HSA-5655253", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5655253" } ], "reference": [ { "type": "PubMed", "id": "19946327", "url": "https://glygen.org/publication/PubMed/19946327" } ] }, { "title": "Somatic mutations in p85alpha promote tumorigenesis through class IA PI3K activation.", "journal": "Cancer cell", "date": "2009", "authors": "Jaiswal BS, Janakiraman V, Kljavin NM, Chaudhuri S, Stern HM, Wang W, Kan Z, Dbouk HA, Peters BA, Waring P, Dela Vega T, Kenski DM, Bowman KK, Lorenzo M, Li H, Wu J, Modrusan Z, Stinson J, Eby M, Yue P, Kaminker JS, de Sauvage FJ, Backer JM, Seshagiri S", "evidence": [ { "database": "Reactome", "id": "R-HSA-2219530", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2219530" } ], "reference": [ { "type": "PubMed", "id": "19962665", "url": "https://glygen.org/publication/PubMed/19962665" } ] }, { "title": "Fibroblast growth factor signalling: from development to cancer.", "journal": "Nat. Rev. Cancer", "date": "2010", "authors": "Turner N, Grose R", "evidence": [ { "database": "UniProtKB", "id": "P10767", "url": "https://www.uniprot.org/uniprot/P10767" }, { "database": "Reactome", "id": "R-HSA-5655253", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5655253" } ], "reference": [ { "type": "PubMed", "id": "20094046", "url": "https://glygen.org/publication/PubMed/20094046" } ] }, { "title": "FGFR2 mutations are rare across histologic subtypes of ovarian cancer.", "journal": "Gynecologic oncology", "date": "2010", "authors": "Byron SA, Gartside MG, Wellens CL, Goodfellow PJ, Birrer MJ, Campbell IG, Pollock PM", "evidence": [ { "database": "Reactome", "id": "R-HSA-2033519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2033519" } ], "reference": [ { "type": "PubMed", "id": "20106510", "url": "https://glygen.org/publication/PubMed/20106510" } ] }, { "title": "Novel insights in FGFR1 regulation: lessons from Kallmann syndrome.", "journal": "Trends in endocrinology and metabolism: TEM", "date": "2010", "authors": "Hu Y, Bouloux PM", "evidence": [ { "database": "Reactome", "id": "R-HSA-5654726", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5654726" } ], "reference": [ { "type": "PubMed", "id": "20117945", "url": "https://glygen.org/publication/PubMed/20117945" } ] }, { "title": "FGFR1 amplification drives endocrine therapy resistance and is a therapeutic target in breast cancer.", "journal": "Cancer research", "date": "2010", "authors": "Turner N, Pearson A, Sharpe R, Lambros M, Geyer F, Lopez-Garcia MA, Natrajan R, Marchio C, Iorns E, Mackay A, Gillett C, Grigoriadis A, Tutt A, Reis-Filho JS, Ashworth A", "evidence": [ { "database": "Reactome", "id": "R-HSA-5655253", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5655253" } ], "reference": [ { "type": "PubMed", "id": "20179196", "url": "https://glygen.org/publication/PubMed/20179196" } ] }, { "title": "Phosphoinositide 3-kinase pathway activation in phosphate and tensin homolog (PTEN)-deficient prostate cancer cells is independent of receptor tyrosine kinases and mediated by the p110beta and p110delta catalytic subunits.", "journal": "The Journal of biological chemistry", "date": "2010", "authors": "Jiang X, Chen S, Asara JM, Balk SP", "evidence": [ { "database": "Reactome", "id": "R-HSA-2219530", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2219530" } ], "reference": [ { "type": "PubMed", "id": "20231295", "url": "https://glygen.org/publication/PubMed/20231295" } ] }, { "title": "mTOR complex-2 activates ENaC by phosphorylating SGK1.", "journal": "Journal of the American Society of Nephrology : JASN", "date": "2010", "authors": "Lu M, Wang J, Jones KT, Ives HE, Feldman ME, Yao LJ, Shokat KM, Ashrafi K, Pearce D", "evidence": [ { "database": "Reactome", "id": "R-HSA-1257604", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1257604" } ], "reference": [ { "type": "PubMed", "id": "20338997", "url": "https://glygen.org/publication/PubMed/20338997" } ] }, { "title": "Critical role of FLRT1 phosphorylation in the interdependent regulation of FLRT1 function and FGF receptor signalling.", "journal": "PloS one", "date": "2010", "authors": "Wheldon LM, Haines BP, Rajappa R, Mason I, Rigby PW, Heath JK", "evidence": [ { "database": "Reactome", "id": "R-HSA-5654687", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5654687" } ], "reference": [ { "type": "PubMed", "id": "20421966", "url": "https://glygen.org/publication/PubMed/20421966" } ] }, { "title": "RalGDS family members couple Ras to Ral signalling and that's not all.", "journal": "Cellular signalling", "date": "2010", "authors": "Ferro E, Trabalzini L", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "20478380", "url": "https://glygen.org/publication/PubMed/20478380" } ] }, { "title": "Phosphatidylinositol 3-kinase-delta inhibitor CAL-101 shows promising preclinical activity in chronic lymphocytic leukemia by antagonizing intrinsic and extrinsic cellular survival signals.", "journal": "Blood", "date": "2010", "authors": "Herman SE, Gordon AL, Wagner AJ, Heerema NA, Zhao W, Flynn JM, Jones J, Andritsos L, Puri KD, Lannutti BJ, Giese NA, Zhang X, Wei L, Byrd JC, Johnson AJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-2219530", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2219530" } ], "reference": [ { "type": "PubMed", "id": "20522708", "url": "https://glygen.org/publication/PubMed/20522708" } ] }, { "title": "GP369, an FGFR2-IIIb-specific antibody, exhibits potent antitumor activity against human cancers driven by activated FGFR2 signaling.", "journal": "Cancer research", "date": "2010", "authors": "Bai A, Meetze K, Vo NY, Kollipara S, Mazsa EK, Winston WM, Weiler S, Poling LL, Chen T, Ismail NS, Jiang J, Lerner L, Gyuris J, Weng Z", "evidence": [ { "database": "Reactome", "id": "R-HSA-5655253", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5655253" } ], "reference": [ { "type": "PubMed", "id": "20709759", "url": "https://glygen.org/publication/PubMed/20709759" } ] }, { "title": "Cancer-derived mutations in the regulatory subunit p85alpha of phosphoinositide 3-kinase function through the catalytic subunit p110alpha.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2010", "authors": "Sun M, Hillmann P, Hofmann BT, Hart JR, Vogt PK", "evidence": [ { "database": "Reactome", "id": "R-HSA-2219530", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2219530" } ], "reference": [ { "type": "PubMed", "id": "20713702", "url": "https://glygen.org/publication/PubMed/20713702" } ] }, { "title": "Ras superfamily GEFs and GAPs: validated and tractable targets for cancer therapy?", "journal": "Nature reviews. Cancer", "date": "2010", "authors": "Vigil D, Cherfils J, Rossman KL, Der CJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "21102635", "url": "https://glygen.org/publication/PubMed/21102635" } ] }, { "title": "Frequent and focal FGFR1 amplification associates with therapeutically tractable FGFR1 dependency in squamous cell lung cancer.", "journal": "Science translational medicine", "date": "2010", "authors": "Weiss J, Sos ML, Seidel D, Peifer M, Zander T, Heuckmann JM, Ullrich RT, Menon R, Maier S, Soltermann A, Moch H, Wagener P, Fischer F, Heynck S, Koker M, Schottle J, Leenders F, Gabler F, Dabow I, Querings S, Heukamp LC, Balke-Want H, Ansen S, Rauh D, Baessmann I, Altmuller J, Wainer Z, Conron M, Wright G, Russell P, Solomon B, Brambilla E, Brambilla C, Lorimier P, Sollberg S, Brustugun OT, Engel-Riedel W, Ludwig C, Petersen I, Sanger J, Clement J, Groen H, Timens W, Sietsma H, Thunnissen E, Smit E, Heideman D, Cappuzzo F, Ligorio C, Damiani S, Hallek M, Beroukhim R, Pao W, Klebl B, Baumann M, Buettner R, Ernestus K, Stoelben E, Wolf J, Nurnberg P, Perner S, Thomas RK", "evidence": [ { "database": "Reactome", "id": "R-HSA-5655253", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5655253" } ], "reference": [ { "type": "PubMed", "id": "21160078", "url": "https://glygen.org/publication/PubMed/21160078" } ] }, { "title": "PTEN restoration and PIK3CB knockdown synergistically suppress glioblastoma growth in vitro and in xenografts.", "journal": "Journal of neuro-oncology", "date": "2011", "authors": "Chen H, Mei L, Zhou L, Shen X, Guo C, Zheng Y, Zhu H, Zhu Y, Huang L", "evidence": [ { "database": "Reactome", "id": "R-HSA-2219530", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2219530" } ], "reference": [ { "type": "PubMed", "id": "21188471", "url": "https://glygen.org/publication/PubMed/21188471" } ] }, { "title": "Inhibition of PI3K/mTOR pathways in glioblastoma and implications for combination therapy with temozolomide.", "journal": "Neuro-oncology", "date": "2011", "authors": "Prasad G, Sottero T, Yang X, Mueller S, James CD, Weiss WA, Polley MY, Ozawa T, Berger MS, Aftab DT, Prados MD, Haas-Kogan DA", "evidence": [ { "database": "Reactome", "id": "R-HSA-2219530", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2219530" } ], "reference": [ { "type": "PubMed", "id": "21317208", "url": "https://glygen.org/publication/PubMed/21317208" } ] }, { "title": "Targeting mutant fibroblast growth factor receptors in cancer.", "journal": "Trends in molecular medicine", "date": "2011", "authors": "Greulich H, Pollock PM", "evidence": [ { "database": "Reactome", "id": "R-HSA-2033519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2033519" } ], "reference": [ { "type": "PubMed", "id": "21367659", "url": "https://glygen.org/publication/PubMed/21367659" } ] }, { "title": "Feedback upregulation of HER3 (ErbB3) expression and activity attenuates antitumor effect of PI3K inhibitors.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2012", "authors": "Chakrabarty A, Sanchez V, Kuba MG, Rinehart C, Arteaga CL", "evidence": [ { "database": "Reactome", "id": "R-HSA-2219530", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2219530" } ], "reference": [ { "type": "PubMed", "id": "21368164", "url": "https://glygen.org/publication/PubMed/21368164" } ] }, { "title": "Activation and function of the MAPKs and their substrates, the MAPK-activated protein kinases.", "journal": "Microbiology and molecular biology reviews : MMBR", "date": "2011", "authors": "Cargnello M, Roux PP", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "21372320", "url": "https://glygen.org/publication/PubMed/21372320" } ] }, { "title": "PIK3R1 (p85alpha) is somatically mutated at high frequency in primary endometrial cancer.", "journal": "Cancer research", "date": "2011", "authors": "Urick ME, Rudd ML, Godwin AK, Sgroi D, Merino M, Bell DW", "evidence": [ { "database": "Reactome", "id": "R-HSA-2219530", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2219530" } ], "reference": [ { "type": "PubMed", "id": "21478295", "url": "https://glygen.org/publication/PubMed/21478295" } ] }, { "title": "Inhibitor-sensitive FGFR1 amplification in human non-small cell lung cancer.", "journal": "PloS one", "date": "2011", "authors": "Dutt A, Ramos AH, Hammerman PS, Mermel C, Cho J, Sharifnia T, Chande A, Tanaka KE, Stransky N, Greulich H, Gray NS, Meyerson M", "evidence": [ { "database": "Reactome", "id": "R-HSA-5655253", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5655253" } ], "reference": [ { "type": "PubMed", "id": "21666749", "url": "https://glygen.org/publication/PubMed/21666749" } ] }, { "title": "A drug targeting only p110alpha can block phosphoinositide 3-kinase signalling and tumour growth in certain cell types.", "journal": "The Biochemical journal", "date": "2011", "authors": "Jamieson S, Flanagan JU, Kolekar S, Buchanan C, Kendall JD, Lee WJ, Rewcastle GW, Denny WA, Singh R, Dickson J, Baguley BC, Shepherd PR", "evidence": [ { "database": "Reactome", "id": "R-HSA-2219530", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2219530" } ], "reference": [ { "type": "PubMed", "id": "21668414", "url": "https://glygen.org/publication/PubMed/21668414" } ] }, { "title": "Fibroblast growth factors and their receptors in cancer.", "journal": "The Biochemical journal", "date": "2011", "authors": "Wesche J, Haglund K, Haugsten EM", "evidence": [ { "database": "Reactome", "id": "R-HSA-2033519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2033519" } ], "reference": [ { "type": "PubMed", "id": "21711248", "url": "https://glygen.org/publication/PubMed/21711248" } ] }, { "title": "RAS Interaction with PI3K: More Than Just Another Effector Pathway.", "journal": "Genes & cancer", "date": "2011", "authors": "Castellano E, Downward J", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "21779497", "url": "https://glygen.org/publication/PubMed/21779497" } ] }, { "title": "Therapeutic strategies for targeting ras proteins.", "journal": "Genes & cancer", "date": "2011", "authors": "Gysin S, Salt M, Young A, McCormick F", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "21779505", "url": "https://glygen.org/publication/PubMed/21779505" } ] }, { "title": "Dynamics of the phosphoinositide 3-kinase p110delta interaction with p85alpha and membranes reveals aspects of regulation distinct from p110alpha.", "journal": "Structure (London, England : 1993)", "date": "2011", "authors": "Burke JE, Vadas O, Berndt A, Finegan T, Perisic O, Williams RL", "evidence": [ { "database": "Reactome", "id": "R-HSA-109704", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-109704" } ], "reference": [ { "type": "PubMed", "id": "21827948", "url": "https://glygen.org/publication/PubMed/21827948" } ] }, { "title": "Novel phosphoinositide 3-kinase/mTOR dual inhibitor, NVP-BGT226, displays potent growth-inhibitory activity against human head and neck cancer cells in vitro and in vivo.", "journal": "Clinical cancer research : an official journal of the American Association for Cancer Research", "date": "2011", "authors": "Chang KY, Tsai SY, Wu CM, Yen CJ, Chuang BF, Chang JY", "evidence": [ { "database": "Reactome", "id": "R-HSA-2219530", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2219530" } ], "reference": [ { "type": "PubMed", "id": "21976531", "url": "https://glygen.org/publication/PubMed/21976531" } ] }, { "title": "High frequency of PIK3R1 and PIK3R2 mutations in endometrial cancer elucidates a novel mechanism for regulation of PTEN protein stability.", "journal": "Cancer discovery", "date": "2011", "authors": "Cheung LW, Hennessy BT, Li J, Yu S, Myers AP, Djordjevic B, Lu Y, Stemke-Hale K, Dyer MD, Zhang F, Ju Z, Cantley LC, Scherer SE, Liang H, Lu KH, Broaddus RR, Mills GB", "evidence": [ { "database": "Reactome", "id": "R-HSA-2219530", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2219530" } ], "reference": [ { "type": "PubMed", "id": "21984976", "url": "https://glygen.org/publication/PubMed/21984976" } ] }, { "title": "RAS oncogenes: weaving a tumorigenic web.", "journal": "Nature reviews. Cancer", "date": "2011", "authors": "Pylayeva-Gupta Y, Grabocka E, Bar-Sagi D", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "21993244", "url": "https://glygen.org/publication/PubMed/21993244" } ] }, { "title": "Regulation of lipid binding underlies the activation mechanism of class IA PI3-kinases.", "journal": "Oncogene", "date": "2012", "authors": "Hon WC, Berndt A, Williams RL", "evidence": [ { "database": "Reactome", "id": "R-HSA-2219530", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2219530" } ], "reference": [ { "type": "PubMed", "id": "22120714", "url": "https://glygen.org/publication/PubMed/22120714" } ] }, { "title": "Identification and characterization of NVP-BKM120, an orally available pan-class I PI3-kinase inhibitor.", "journal": "Molecular cancer therapeutics", "date": "2012", "authors": "Maira SM, Pecchi S, Huang A, Burger M, Knapp M, Sterker D, Schnell C, Guthy D, Nagel T, Wiesmann M, Brachmann S, Fritsch C, Dorsch M, Chene P, Shoemaker K, De Pover A, Menezes D, Martiny-Baron G, Fabbro D, Wilson CJ, Schlegel R, Hofmann F, Garcia-Echeverria C, Sellers WR, Voliva CF", "evidence": [ { "database": "Reactome", "id": "R-HSA-2219530", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2219530" } ], "reference": [ { "type": "PubMed", "id": "22188813", "url": "https://glygen.org/publication/PubMed/22188813" } ] }, { "title": "ERK1/2 MAP kinases: structure, function, and regulation.", "journal": "Pharmacological research", "date": "2012", "authors": "Roskoski R Jr", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "22569528", "url": "https://glygen.org/publication/PubMed/22569528" } ] }, { "title": "Functional characterization of an isoform-selective inhibitor of PI3K-p110beta as a potential anticancer agent.", "journal": "Cancer discovery", "date": "2012", "authors": "Ni J, Liu Q, Xie S, Carlson C, Von T, Vogel K, Riddle S, Benes C, Eck M, Roberts T, Gray N, Zhao J", "evidence": [ { "database": "Reactome", "id": "R-HSA-2219530", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2219530" } ], "reference": [ { "type": "PubMed", "id": "22588880", "url": "https://glygen.org/publication/PubMed/22588880" } ] }, { "title": "A comprehensive survey of Ras mutations in cancer.", "journal": "Cancer research", "date": "2012", "authors": "Prior IA, Lewis PD, Mattos C", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "22589270", "url": "https://glygen.org/publication/PubMed/22589270" } ] }, { "title": "Probing the GTPase cycle with real-time NMR: GAP and GEF activities in cell extracts.", "journal": "Methods (San Diego, Calif.)", "date": "2012", "authors": "Marshall CB, Meiri D, Smith MJ, Mazhab-Jafari MT, Gasmi-Seabrook GM, Rottapel R, Stambolic V, Ikura M", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "22750304", "url": "https://glygen.org/publication/PubMed/22750304" } ] }, { "title": "The p110alpha and p110beta isoforms of PI3K play divergent roles in mammary gland development and tumorigenesis.", "journal": "Genes & development", "date": "2012", "authors": "Utermark T, Rao T, Cheng H, Wang Q, Lee SH, Wang ZC, Iglehart JD, Roberts TM, Muller WJ, Zhao JJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-2219530", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2219530" } ], "reference": [ { "type": "PubMed", "id": "22802530", "url": "https://glygen.org/publication/PubMed/22802530" } ] }, { "title": "The protein tyrosine phosphatase, Shp2, positively contributes to FLT3-ITD-induced hematopoietic progenitor hyperproliferation and malignant disease in vivo.", "journal": "Leukemia", "date": "2013", "authors": "Nabinger SC, Li XJ, Ramdas B, He Y, Zhang X, Zeng L, Richine B, Bowling JD, Fukuda S, Goenka S, Liu Z, Feng GS, Yu M, Sandusky GE, Boswell HS, Zhang ZY, Kapur R, Chan RJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "23103841", "url": "https://glygen.org/publication/PubMed/23103841" } ] }, { "title": "Regulation of small GTPases by GEFs, GAPs, and GDIs.", "journal": "Physiological reviews", "date": "2013", "authors": "Cherfils J, Zeghouf M", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "23303910", "url": "https://glygen.org/publication/PubMed/23303910" } ] }, { "title": "Nonredundant functions for Ras GTPase-activating proteins in tissue homeostasis.", "journal": "Science signaling", "date": "2013", "authors": "King PD, Lubeck BA, Lapinski PE", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "23443682", "url": "https://glygen.org/publication/PubMed/23443682" } ] }, { "title": "Structure of ERK2 bound to PEA-15 reveals a mechanism for rapid release of activated MAPK.", "journal": "Nature communications", "date": "2013", "authors": "Mace PD, Wallez Y, Egger MF, Dobaczewska MK, Robinson H, Pasquale EB, Riedl SJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "23575685", "url": "https://glygen.org/publication/PubMed/23575685" } ] }, { "title": "PI3K/AKT signaling pathway and cancer: an updated review.", "journal": "Annals of medicine", "date": "2014", "authors": "Martini M, De Santis MC, Braccini L, Gulluni F, Hirsch E", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "24897931", "url": "https://glygen.org/publication/PubMed/24897931" } ] }, { "title": "`RAF` neighborhood: protein-protein interaction in the Raf/Mek/Erk pathway.", "journal": "FEBS letters", "date": "2014", "authors": "Cseh B, Doma E, Baccarini M", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "24937142", "url": "https://glygen.org/publication/PubMed/24937142" } ] }, { "title": "Ral small GTPase signaling and oncogenesis: More than just 15minutes of fame.", "journal": "Biochimica et biophysica acta", "date": "2014", "authors": "Gentry LR, Martin TD, Reiner DJ, Der CJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "25219551", "url": "https://glygen.org/publication/PubMed/25219551" } ] }, { "title": "Ras activation revisited: role of GEF and GAP systems.", "journal": "Biological chemistry", "date": "2015", "authors": "Hennig A, Markwart R, Esparza-Franco MA, Ladds G, Rubio I", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "25781681", "url": "https://glygen.org/publication/PubMed/25781681" } ] }, { "title": "The Key Role of Calmodulin in KRAS-Driven Adenocarcinomas.", "journal": "Molecular cancer research : MCR", "date": "2015", "authors": "Nussinov R, Muratcioglu S, Tsai CJ, Jang H, Gursoy A, Keskin O", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "26085527", "url": "https://glygen.org/publication/PubMed/26085527" } ] }, { "title": "Characterization of the HST-related FGF.6 gene, a new member of the fibroblast growth factor gene family.", "journal": "Oncogene", "date": "1989", "authors": "Marics I, Adelaide J, Raybaud F, Mattei MG, Coulier F, Planche J, de Lapeyriere O, Birnbaum D", "evidence": [ { "database": "UniProtKB", "id": "P10767", "url": "https://www.uniprot.org/uniprot/P10767" } ], "reference": [ { "type": "PubMed", "id": "2649847", "url": "https://glygen.org/publication/PubMed/2649847" } ] }, { "title": "Targeting Ras with Macromolecules.", "journal": "Cold Spring Harbor perspectives in medicine", "date": "2018", "authors": "Pei D, Chen K, Liao H", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "28778966", "url": "https://glygen.org/publication/PubMed/28778966" } ] }, { "title": "A gene-based recessive diplotype exome scan discovers FGF6, a novel hepcidin-regulating iron-metabolism gene.", "journal": "Blood", "date": "2019", "authors": "Guo S, Jiang S, Epperla N, Ma Y, Maadooliat M, Ye Z, Olson B, Wang M, Kitchner T, Joyce J, An P, Wang F, Strenn R, Mazza JJ, Meece JK, Wu W, Jin L, Smith JA, Wang J, Schrodi SJ", "evidence": [ { "database": "RefSeq", "id": "NP_066276", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_066276" } ], "reference": [ { "type": "PubMed", "id": "30814063", "url": "https://glygen.org/publication/PubMed/30814063" } ] }, { "title": "The structural basis for Ras activation of PI3Kalpha lipid kinase.", "journal": "Physical chemistry chemical physics : PCCP", "date": "2019", "authors": "Zhang M, Jang H, Nussinov R", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "31135801", "url": "https://glygen.org/publication/PubMed/31135801" } ] }, { "title": "Skeletal muscle-targeted delivery of Fgf6 protects mice from diet-induced obesity and insulin resistance.", "journal": "JCI insight", "date": "2021", "authors": "Xu B, Liu C, Zhang H, Zhang R, Tang M, Huang Y, Jin L, Xu L, Hu C, Jia W", "evidence": [ { "database": "RefSeq", "id": "NP_066276", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_066276" } ], "reference": [ { "type": "PubMed", "id": "34491915", "url": "https://glygen.org/publication/PubMed/34491915" } ] }, { "title": "LINC00265 promotes the viability, proliferation, and migration of bladder cancer cells via the miR-4677-3p/FGF6 axis.", "journal": "Human & experimental toxicology", "date": "2021", "authors": "Zhi Y, Sun F, Cai C, Li H, Wang K, Sun J, He T, Ji Z, Liu Z, Wang H, Cheng R", "evidence": [ { "database": "RefSeq", "id": "NP_066276", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_066276" } ], "reference": [ { "type": "PubMed", "id": "34591706", "url": "https://glygen.org/publication/PubMed/34591706" } ] }, { "title": "FGF6 promotes cardiac repair after myocardial infarction by inhibiting the Hippo pathway.", "journal": "Cell proliferation", "date": "2022", "authors": "Hu Z, Chen P, Wang L, Zhu Y, Chen G, Chen Y, Hu Z, Mei L, You W, Cong W, Jin L, Wang X, Wang Y, Guan X", "evidence": [ { "database": "RefSeq", "id": "NP_066276", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_066276" } ], "reference": [ { "type": "PubMed", "id": "35355356", "url": "https://glygen.org/publication/PubMed/35355356" } ] }, { "title": "Intrinsic GTPase activity distinguishes normal and oncogenic ras p21 molecules.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1984", "authors": "Gibbs JB, Sigal IS, Poe M, Scolnick EM", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "6148751", "url": "https://glygen.org/publication/PubMed/6148751" } ] }, { "title": "Insulin-like growth factor induces phosphorylation of immunoreactive insulin receptor substrate and its association with phosphatidylinositol-3 kinase in human thymocytes.", "journal": "The Journal of experimental medicine", "date": "1995", "authors": "Kooijman R, Lauf JJ, Kappers AC, Rijkers GT", "evidence": [ { "database": "Reactome", "id": "R-HSA-109704", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-109704" } ], "reference": [ { "type": "PubMed", "id": "7543144", "url": "https://glygen.org/publication/PubMed/7543144" } ] }, { "title": "Shc and a novel 89-kDa component couple to the Grb2-Sos complex in fibroblast growth factor-2-stimulated cells.", "journal": "The Journal of biological chemistry", "date": "1995", "authors": "Klint P, Kanda S, Claesson-Welsh L", "evidence": [ { "database": "Reactome", "id": "R-HSA-5654699", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5654699" } ], "reference": [ { "type": "PubMed", "id": "7559490", "url": "https://glygen.org/publication/PubMed/7559490" } ] }, { "title": "Protein kinase B (c-Akt) in phosphatidylinositol-3-OH kinase signal transduction.", "journal": "Nature", "date": "1995", "authors": "Burgering BM, Coffer PJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-1257604", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1257604" } ], "reference": [ { "type": "PubMed", "id": "7637810", "url": "https://glygen.org/publication/PubMed/7637810" } ] }, { "title": "Stop codon FGFR3 mutations in thanatophoric dwarfism type 1.", "journal": "Nature genetics", "date": "1995", "authors": "Rousseau F, Saugier P, Le Merrer M, Munnich A, Delezoide AL, Maroteaux P, Bonaventure J, Narcy F, Sanak M", "evidence": [ { "database": "Reactome", "id": "R-HSA-2033519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2033519" } ], "reference": [ { "type": "PubMed", "id": "7647778", "url": "https://glygen.org/publication/PubMed/7647778" } ] }, { "title": "Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome.", "journal": "Nature genetics", "date": "1995", "authors": "Wilkie AO, Slaney SF, Oldridge M, Poole MD, Ashworth GJ, Hockley AD, Hayward RD, David DJ, Pulleyn LJ, Rutland P, et al.", "evidence": [ { "database": "Reactome", "id": "R-HSA-2033519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2033519" } ], "reference": [ { "type": "PubMed", "id": "7719344", "url": "https://glygen.org/publication/PubMed/7719344" } ] }, { "title": "Phosphoinositide 3-kinase inhibition spares actin assembly in activating platelets but reverses platelet aggregation.", "journal": "The Journal of biological chemistry", "date": "1995", "authors": "Kovacsovics TJ, Bachelot C, Toker A, Vlahos CJ, Duckworth B, Cantley LC, Hartwig JH", "evidence": [ { "database": "Reactome", "id": "R-HSA-1257604", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1257604" } ], "reference": [ { "type": "PubMed", "id": "7744773", "url": "https://glygen.org/publication/PubMed/7744773" } ] }, { "title": "Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3.", "journal": "Nature genetics", "date": "1995", "authors": "Tavormina PL, Shiang R, Thompson LM, Zhu YZ, Wilkin DJ, Lachman RS, Wilcox WR, Rimoin DL, Cohn DH, Wasmuth JJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-2033519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2033519" } ], "reference": [ { "type": "PubMed", "id": "7773297", "url": "https://glygen.org/publication/PubMed/7773297" } ] }, { "title": "Identification of the guanine nucleotide dissociation stimulator for Ral as a putative effector molecule of R-ras, H-ras, K-ras, and Rap.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1994", "authors": "Spaargaren M, Bischoff JR", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "7809086", "url": "https://glygen.org/publication/PubMed/7809086" } ] }, { "title": "A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome.", "journal": "Nature genetics", "date": "1994", "authors": "Muenke M, Schell U, Hehr A, Robin NH, Losken HW, Schinzel A, Pulleyn LJ, Rutland P, Reardon W, Malcolm S, et al.", "evidence": [ { "database": "Reactome", "id": "R-HSA-1839122", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1839122" } ], "reference": [ { "type": "PubMed", "id": "7874169", "url": "https://glygen.org/publication/PubMed/7874169" } ] }, { "title": "ralGDS family members interact with the effector loop of ras p21.", "journal": "Molecular and cellular biology", "date": "1994", "authors": "Kikuchi A, Demo SD, Ye ZH, Chen YW, Williams LT", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "7935463", "url": "https://glygen.org/publication/PubMed/7935463" } ] }, { "title": "Activated Ras interacts with the Ral guanine nucleotide dissociation stimulator.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1994", "authors": "Hofer F, Fields S, Schneider C, Martin GS", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "7972015", "url": "https://glygen.org/publication/PubMed/7972015" } ] }, { "title": "Phosphatidylinositol-3-OH kinase as a direct target of Ras.", "journal": "Nature", "date": "1994", "authors": "Rodriguez-Viciana P, Warne PH, Dhand R, Vanhaesebroeck B, Gout I, Fry MJ, Waterfield MD, Downward J", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "8052307", "url": "https://glygen.org/publication/PubMed/8052307" } ] }, { "title": "Fibroblast growth factor receptors have different signaling and mitogenic potentials.", "journal": "Molecular and cellular biology", "date": "1994", "authors": "Wang JK, Gao G, Goldfarb M", "evidence": [ { "database": "Reactome", "id": "R-HSA-5654699", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5654699" } ], "reference": [ { "type": "PubMed", "id": "8264585", "url": "https://glygen.org/publication/PubMed/8264585" } ] }, { "title": "Growth factors induce nuclear translocation of MAP kinases (p42mapk and p44mapk) but not of their activator MAP kinase kinase (p45mapkk) in fibroblasts.", "journal": "The Journal of cell biology", "date": "1993", "authors": "Lenormand P, Sardet C, Pages G, L'Allemain G, Brunet A, Pouyssegur J", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "8394845", "url": "https://glygen.org/publication/PubMed/8394845" } ] }, { "title": "Human Sos1: a guanine nucleotide exchange factor for Ras that binds to GRB2.", "journal": "Science (New York, N.Y.)", "date": "1993", "authors": "Chardin P, Camonis JH, Gale NW, van Aelst L, Schlessinger J, Wigler MH, Bar-Sagi D", "evidence": [ { "database": "Reactome", "id": "R-HSA-5654693", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5654693" } ], "reference": [ { "type": "PubMed", "id": "8493579", "url": "https://glygen.org/publication/PubMed/8493579" } ] }, { "title": "Identification of six novel autophosphorylation sites on fibroblast growth factor receptor 1 and elucidation of their importance in receptor activation and signal transduction.", "journal": "Molecular and cellular biology", "date": "1996", "authors": "Mohammadi M, Dikic I, Sorokin A, Burgess WH, Jaye M, Schlessinger J", "evidence": [ { "database": "Reactome", "id": "R-HSA-190322", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-190322" } ], "reference": [ { "type": "PubMed", "id": "8622701", "url": "https://glygen.org/publication/PubMed/8622701" } ] }, { "title": "Rac GTPase interacts specifically with phosphatidylinositol 3-kinase.", "journal": "The Biochemical journal", "date": "1996", "authors": "Bokoch GM, Vlahos CJ, Wang Y, Knaus UG, Traynor-Kaplan AE", "evidence": [ { "database": "Reactome", "id": "R-HSA-1257604", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1257604" } ], "reference": [ { "type": "PubMed", "id": "8645157", "url": "https://glygen.org/publication/PubMed/8645157" } ] }, { "title": "Wortmannin inactivates phosphoinositide 3-kinase by covalent modification of Lys-802, a residue involved in the phosphate transfer reaction.", "journal": "Molecular and cellular biology", "date": "1996", "authors": "Wymann MP, Bulgarelli-Leva G, Zvelebil MJ, Pirola L, Vanhaesebroeck B, Waterfield MD, Panayotou G", "evidence": [ { "database": "Reactome", "id": "R-HSA-2219530", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2219530" } ], "reference": [ { "type": "PubMed", "id": "8657148", "url": "https://glygen.org/publication/PubMed/8657148" } ] }, { "title": "Receptor specificity of the fibroblast growth factor family.", "journal": "The Journal of biological chemistry", "date": "1996", "authors": "Ornitz DM, Xu J, Colvin JS, McEwen DG, MacArthur CA, Coulier F, Gao G, Goldfarb M", "evidence": [ { "database": "UniProtKB", "id": "P10767", "url": "https://www.uniprot.org/uniprot/P10767" }, { "database": "Reactome", "id": "R-HSA-2033519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2033519" } ], "reference": [ { "type": "PubMed", "id": "8663044", "url": "https://glygen.org/publication/PubMed/8663044" } ] }, { "title": "Activation of phosphoinositide 3-kinase by interaction with Ras and by point mutation.", "journal": "The EMBO journal", "date": "1996", "authors": "Rodriguez-Viciana P, Warne PH, Vanhaesebroeck B, Waterfield MD, Downward J", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "8665852", "url": "https://glygen.org/publication/PubMed/8665852" } ] }, { "title": "RalGDS-like factor (Rlf) is a novel Ras and Rap 1A-associating protein.", "journal": "Oncogene", "date": "1996", "authors": "Wolthuis RM, Bauer B, van 't Veer LJ, de Vries-Smits AM, Cool RH, Spaargaren M, Wittinghofer A, Burgering BM, Bos JL", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "8710374", "url": "https://glygen.org/publication/PubMed/8710374" } ] }, { "title": "Constitutive receptor activation by Crouzon syndrome mutations in fibroblast growth factor receptor (FGFR)2 and FGFR2/Neu chimeras.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1996", "authors": "Galvin BD, Hart KC, Meyer AN, Webster MK, Donoghue DJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-2033519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2033519" } ], "reference": [ { "type": "PubMed", "id": "8755573", "url": "https://glygen.org/publication/PubMed/8755573" } ] }, { "title": "Suc1-associated neurotrophic factor target (SNT) protein is a major FGF-stimulated tyrosine phosphorylated 90-kDa protein which binds to the SH2 domain of GRB2.", "journal": "Biochemical and biophysical research communications", "date": "1996", "authors": "Ong SH, Goh KC, Lim YP, Low BC, Klint P, Claesson-Welsh L, Cao X, Tan YH, Guy GR", "evidence": [ { "database": "Reactome", "id": "R-HSA-5654700", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5654700" } ], "reference": [ { "type": "PubMed", "id": "8780727", "url": "https://glygen.org/publication/PubMed/8780727" } ] }, { "title": "Ligand-independent activation of fibroblast growth factor receptors by point mutations in the extracellular, transmembrane, and kinase domains.", "journal": "The Journal of biological chemistry", "date": "1996", "authors": "Neilson KM, Friesel R", "evidence": [ { "database": "Reactome", "id": "R-HSA-2033519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2033519" } ], "reference": [ { "type": "PubMed", "id": "8798788", "url": "https://glygen.org/publication/PubMed/8798788" } ] }, { "title": "Identification of a novel RalGDS-related protein as a candidate effector for Ras and Rap1.", "journal": "The Journal of biological chemistry", "date": "1996", "authors": "Peterson SN, Trabalzini L, Brtva TR, Fischer T, Altschuler DL, Martelli P, Lapetina EG, Der CJ, White GC 2nd", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "8939933", "url": "https://glygen.org/publication/PubMed/8939933" } ] }, { "title": "Signal transduction pathway of human fibroblast growth factor receptor 3. Identification of a novel 66-kDa phosphoprotein.", "journal": "The Journal of biological chemistry", "date": "1997", "authors": "Kanai M, Goke M, Tsunekawa S, Podolsky DK", "evidence": [ { "database": "Reactome", "id": "R-HSA-5654699", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5654699" } ], "reference": [ { "type": "PubMed", "id": "9045692", "url": "https://glygen.org/publication/PubMed/9045692" } ] }, { "title": "Structures of the tyrosine kinase domain of fibroblast growth factor receptor in complex with inhibitors.", "journal": "Science (New York, N.Y.)", "date": "1997", "authors": "Mohammadi M, McMahon G, Sun L, Tang C, Hirth P, Yeh BK, Hubbard SR, Schlessinger J", "evidence": [ { "database": "Reactome", "id": "R-HSA-190373", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-190373" } ], "reference": [ { "type": "PubMed", "id": "9139660", "url": "https://glygen.org/publication/PubMed/9139660" } ] }, { "title": "A lipid-anchored Grb2-binding protein that links FGF-receptor activation to the Ras/MAPK signaling pathway.", "journal": "Cell", "date": "1997", "authors": "Kouhara H, Hadari YR, Spivak-Kroizman T, Schilling J, Bar-Sagi D, Lax I, Schlessinger J", "evidence": [ { "database": "Reactome", "id": "R-HSA-5654700", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5654700" } ], "reference": [ { "type": "PubMed", "id": "9182757", "url": "https://glygen.org/publication/PubMed/9182757" } ] }, { "title": "SHP2 associates directly with tyrosine phosphorylated p90 (SNT) protein in FGF-stimulated cells.", "journal": "Biochemical and biophysical research communications", "date": "1997", "authors": "Ong SH, Lim YP, Low BC, Guy GR", "evidence": [ { "database": "Reactome", "id": "R-HSA-5654693", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5654693" } ], "reference": [ { "type": "PubMed", "id": "9299490", "url": "https://glygen.org/publication/PubMed/9299490" } ] }, { "title": "Constitutive activation of fibroblast growth factor receptor 3 by mutations responsible for the lethal skeletal dysplasia thanatophoric dysplasia type I.", "journal": "Cell growth & differentiation : the molecular biology journal of the American Association for Cancer Research", "date": "1998", "authors": "d'Avis PY, Robertson SC, Meyer AN, Bardwell WM, Webster MK, Donoghue DJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-2033519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2033519" } ], "reference": [ { "type": "PubMed", "id": "9438390", "url": "https://glygen.org/publication/PubMed/9438390" } ] }, { "title": "Novel recruitment of Shc, Grb2, and Sos by fibroblast growth factor receptor-1 in v-Src-transformed cells.", "journal": "Biochemical and biophysical research communications", "date": "1998", "authors": "Curto M, Frankel P, Carrero A, Foster DA", "evidence": [ { "database": "Reactome", "id": "R-HSA-5654699", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5654699" } ], "reference": [ { "type": "PubMed", "id": "9480847", "url": "https://glygen.org/publication/PubMed/9480847" } ] }, { "title": "Increased calvaria cell differentiation and bone matrix formation induced by fibroblast growth factor receptor 2 mutations in Apert syndrome.", "journal": "The Journal of clinical investigation", "date": "1998", "authors": "Lomri A, Lemonnier J, Hott M, de Parseval N, Lajeunie E, Munnich A, Renier D, Marie PJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-2033519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2033519" } ], "reference": [ { "type": "PubMed", "id": "9502772", "url": "https://glygen.org/publication/PubMed/9502772" } ] }, { "title": "Activating mutations in the extracellular domain of the fibroblast growth factor receptor 2 function by disruption of the disulfide bond in the third immunoglobulin-like domain.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1998", "authors": "Robertson SC, Meyer AN, Hart KC, Galvin BD, Webster MK, Donoghue DJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-2033519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2033519" } ], "reference": [ { "type": "PubMed", "id": "9539778", "url": "https://glygen.org/publication/PubMed/9539778" } ] }, { "title": "Phosphorylation of the MAP kinase ERK2 promotes its homodimerization and nuclear translocation.", "journal": "Cell", "date": "1998", "authors": "Khokhlatchev AV, Canagarajah B, Wilsbacher J, Robinson M, Atkinson M, Goldsmith E, Cobb MH", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "9604935", "url": "https://glygen.org/publication/PubMed/9604935" } ] }, { "title": "Binding of Shp2 tyrosine phosphatase to FRS2 is essential for fibroblast growth factor-induced PC12 cell differentiation.", "journal": "Molecular and cellular biology", "date": "1998", "authors": "Hadari YR, Kouhara H, Lax I, Schlessinger J", "evidence": [ { "database": "Reactome", "id": "R-HSA-5654700", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5654700" } ], "reference": [ { "type": "PubMed", "id": "9632781", "url": "https://glygen.org/publication/PubMed/9632781" } ] }, { "title": "Novel recognition motif on fibroblast growth factor receptor mediates direct association and activation of SNT adapter proteins.", "journal": "The Journal of biological chemistry", "date": "1998", "authors": "Xu H, Lee KW, Goldfarb M", "evidence": [ { "database": "Reactome", "id": "R-HSA-5654700", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5654700" } ], "reference": [ { "type": "PubMed", "id": "9660748", "url": "https://glygen.org/publication/PubMed/9660748" } ] }, { "title": "Apert syndrome mutations in fibroblast growth factor receptor 2 exhibit increased affinity for FGF ligand.", "journal": "Human molecular genetics", "date": "1998", "authors": "Anderson J, Burns HD, Enriquez-Harris P, Wilkie AO, Heath JK", "evidence": [ { "database": "Reactome", "id": "R-HSA-2033519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2033519" } ], "reference": [ { "type": "PubMed", "id": "9700203", "url": "https://glygen.org/publication/PubMed/9700203" } ] }, { "title": "Anosmin-1 underlying the X chromosome-linked Kallmann syndrome is an adhesion molecule that can modulate neurite growth in a cell-type specific manner.", "journal": "Journal of cell science", "date": "1998", "authors": "Soussi-Yanicostas N, Faivre-Sarrailh C, Hardelin JP, Levilliers J, Rougon G, Petit C", "evidence": [ { "database": "Reactome", "id": "R-HSA-5654726", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5654726" } ], "reference": [ { "type": "PubMed", "id": "9730987", "url": "https://glygen.org/publication/PubMed/9730987" } ] }, { "title": "Phosphoinositide-3-OH kinase-dependent regulation of glycogen synthase kinase 3 and protein kinase B/AKT by the integrin-linked kinase.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1998", "authors": "Delcommenne M, Tan C, Gray V, Rue L, Woodgett J, Dedhar S", "evidence": [ { "database": "Reactome", "id": "R-HSA-1257604", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1257604" } ], "reference": [ { "type": "PubMed", "id": "9736715", "url": "https://glygen.org/publication/PubMed/9736715" } ] }, { "title": "Effect of transmembrane and kinase domain mutations on fibroblast growth factor receptor 3 chimera signaling in PC12 cells. A model for the control of receptor tyrosine kinase activation.", "journal": "The Journal of biological chemistry", "date": "1998", "authors": "Raffioni S, Zhu YZ, Bradshaw RA, Thompson LM", "evidence": [ { "database": "Reactome", "id": "R-HSA-1839122", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1839122" } ], "reference": [ { "type": "PubMed", "id": "9857065", "url": "https://glygen.org/publication/PubMed/9857065" } ] }, { "title": "Role of phosphatidylinositol 3,4,5-trisphosphate in regulating the activity and localization of 3-phosphoinositide-dependent protein kinase-1.", "journal": "The Biochemical journal", "date": "1999", "authors": "Currie RA, Walker KS, Gray A, Deak M, Casamayor A, Downes CP, Cohen P, Alessi DR, Lucocq J", "evidence": [ { "database": "Reactome", "id": "R-HSA-1257604", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1257604" } ], "reference": [ { "type": "PubMed", "id": "9895304", "url": "https://glygen.org/publication/PubMed/9895304" } ] }, { "title": "Nuclear translocation of p42/p44 mitogen-activated protein kinase is required for growth factor-induced gene expression and cell cycle entry.", "journal": "The EMBO journal", "date": "1999", "authors": "Brunet A, Roux D, Lenormand P, Dowd S, Keyse S, Pouyssegur J", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "9927426", "url": "https://glygen.org/publication/PubMed/9927426" } ] } ], "pathway": [ { "id": "hsa:2251", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:2251", "resource": "KEGG Pathway" }, { "id": "R-HSA-109704", "name": "PI3K Cascade", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-109704", "resource": "Reactome", "description": "PI3K Cascade" }, { "id": "R-HSA-1257604", "name": "PIP3 activates AKT signaling", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1257604", "resource": "Reactome", "description": "PIP3 activates AKT signaling" }, { "id": "R-HSA-1839122", "name": "Signaling by activated point mutants of FGFR1", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1839122", "resource": "Reactome", "description": "Signaling by activated point mutants of FGFR1" }, { "id": "R-HSA-190322", "name": "FGFR4 ligand binding and activation", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-190322", "resource": "Reactome", "description": "FGFR4 ligand binding and activation" }, { "id": "R-HSA-190373", "name": "FGFR1c ligand binding and activation", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-190373", "resource": "Reactome", "description": "FGFR1c ligand binding and activation" }, { "id": "R-HSA-190375", "name": "FGFR2c ligand binding and activation", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-190375", "resource": "Reactome", "description": "FGFR2c ligand binding and activation" }, { "id": "R-HSA-2033519", "name": "Activated point mutants of FGFR2", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2033519", "resource": "Reactome", "description": "Activated point mutants of FGFR2" }, { "id": "R-HSA-2219530", "name": "Constitutive Signaling by Aberrant PI3K in Cancer", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2219530", "resource": "Reactome", "description": "Constitutive Signaling by Aberrant PI3K in Cancer" }, { "id": "R-HSA-5654219", "name": "Phospholipase C-mediated cascade: FGFR1", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5654219", "resource": "Reactome", "description": "Phospholipase C-mediated cascade: FGFR1" }, { "id": "R-HSA-5654221", "name": "Phospholipase C-mediated cascade; FGFR2", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5654221", "resource": "Reactome", "description": "Phospholipase C-mediated cascade; FGFR2" }, { "id": "R-HSA-5654228", "name": "Phospholipase C-mediated cascade; FGFR4", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5654228", "resource": "Reactome", "description": "Phospholipase C-mediated cascade; FGFR4" }, { "id": "R-HSA-5654687", "name": "Downstream signaling of activated FGFR1", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5654687", "resource": "Reactome", "description": "Downstream signaling of activated FGFR1" }, { "id": "R-HSA-5654688", "name": "SHC-mediated cascade:FGFR1", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5654688", "resource": "Reactome", "description": "SHC-mediated cascade:FGFR1" }, { "id": "R-HSA-5654689", "name": "PI-3K cascade:FGFR1", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5654689", "resource": "Reactome", "description": "PI-3K cascade:FGFR1" }, { "id": "R-HSA-5654693", "name": "FRS-mediated FGFR1 signaling", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5654693", "resource": "Reactome", "description": "FRS-mediated FGFR1 signaling" }, { "id": "R-HSA-5654695", "name": "PI-3K cascade:FGFR2", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5654695", "resource": "Reactome", "description": "PI-3K cascade:FGFR2" }, { "id": "R-HSA-5654699", "name": "SHC-mediated cascade:FGFR2", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5654699", "resource": "Reactome", "description": "SHC-mediated cascade:FGFR2" }, { "id": "R-HSA-5654700", "name": "FRS-mediated FGFR2 signaling", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5654700", "resource": "Reactome", "description": "FRS-mediated FGFR2 signaling" }, { "id": "R-HSA-5654712", "name": "FRS-mediated FGFR4 signaling", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5654712", "resource": "Reactome", "description": "FRS-mediated FGFR4 signaling" }, { "id": "R-HSA-5654719", "name": "SHC-mediated cascade:FGFR4", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5654719", "resource": "Reactome", "description": "SHC-mediated cascade:FGFR4" }, { "id": "R-HSA-5654720", "name": "PI-3K cascade:FGFR4", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5654720", "resource": "Reactome", "description": "PI-3K cascade:FGFR4" }, { "id": "R-HSA-5654726", "name": "Negative regulation of FGFR1 signaling", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5654726", "resource": "Reactome", "description": "Negative regulation of FGFR1 signaling" }, { "id": "R-HSA-5654727", "name": "Negative regulation of FGFR2 signaling", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5654727", "resource": "Reactome", "description": "Negative regulation of FGFR2 signaling" }, { "id": "R-HSA-5654733", "name": "Negative regulation of FGFR4 signaling", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5654733", "resource": "Reactome", "description": "Negative regulation of FGFR4 signaling" }, { "id": "R-HSA-5655253", "name": "Signaling by FGFR2 in disease", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5655253", "resource": "Reactome", "description": "Signaling by FGFR2 in disease" }, { "id": "R-HSA-5655302", "name": "Signaling by FGFR1 in disease", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5655302", "resource": "Reactome", "description": "Signaling by FGFR1 in disease" }, { "id": "R-HSA-5673001", "name": "RAF/MAP kinase cascade", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001", "resource": "Reactome", "description": "RAF/MAP kinase cascade" }, { "id": "R-HSA-6811558", "name": "PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811558", "resource": "Reactome", "description": "PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling" } ], "orthologs": [ { "uniprot_canonical_ac": "P21658-1", "protein_name": "Fibroblast growth factor 6", "gene_name": "Fgf6", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MALGQRLFITMSRGAGRVQGTLQALVFLGVLVGMVVPSPAGARANGTLLDSRGWGTLLSRSRAGLAGEISGVNWESGYLVGIKRQRRLYCNVGIGFHLQVPPDGRISGTHEENPYSLLEISTVERGVVSLFGVKSALFIAMNSKGRLYTTPSFHDECKFRETLLPNNYNAYESDLYRGTYIALSKYGRVKRGSKVSPIMTVTHFLPRI", "length": 208 }, "evidence": [ { "id": "45918312", "url": "http://www.informatics.jax.org/homology/45918312", "database": "MGI" }, { "id": "P10767", "url": "https://omabrowser.org/oma/group/P10767/", "database": "OMA" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "Q8R5L5-1", "protein_name": "Fibroblast growth factor", "gene_name": "Fgf6", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MALGQRLFITMSRGAGRVQGTLQALVFLGVLVGMVVPSPAGARANGTLLDSRGWGTLLSRSRAGLAGEISGVNWESGYLVGIKRQRRLYCNVGIGFHLQVPPDGRISGTHEENPYSLLEISTVERGVVSLFGVKSALFIAMNSKGRLYTTPSFQDECKFRETLLPNNYNAYESDLYRGTYIALSKYGRVKRGSKVSPIMTVTHFLPRI", "length": 208 }, "evidence": [ { "id": "45918312", "url": "http://www.informatics.jax.org/homology/45918312", "database": "MGI" }, { "id": "P10767", "url": "https://omabrowser.org/oma/group/P10767/", "database": "OMA" } ], "common_name": "Rat" } ], "go_annotation": { "categories": [ { "name": "Biological Process", "total": 11, "go_terms": [ { "name": "angiogenesis", "id": "GO:0001525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001525", "evidence": [ { "database": "UniProtKB", "id": "P10767", "url": "https://www.uniprot.org/uniprot/P10767" } ], "pmid": "" }, { "name": "positive regulation of protein phosphorylation", "id": "GO:0001934", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001934", "evidence": [ { "database": "UniProtKB", "id": "P10767", "url": "https://www.uniprot.org/uniprot/P10767" } ], "pmid": "" }, { "name": "positive regulation of cell population proliferation", "id": "GO:0008284", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008284", "evidence": [ { "database": "UniProtKB", "id": "P10767", "url": "https://www.uniprot.org/uniprot/P10767" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "P10767", "url": "https://www.uniprot.org/uniprot/P10767" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "P10767", "url": "https://www.uniprot.org/uniprot/P10767" } ], "pmid": "" }, { "name": "animal organ morphogenesis", "id": "GO:0009887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009887", "evidence": [ { "database": "UniProtKB", "id": "P10767", "url": "https://www.uniprot.org/uniprot/P10767" } ], "pmid": "" }, { "name": "positive regulation of cell division", "id": "GO:0051781", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051781", "evidence": [ { "database": "UniProtKB", "id": "P10767", "url": "https://www.uniprot.org/uniprot/P10767" } ], "pmid": "" }, { "name": "regulation of cell migration", "id": "GO:0030334", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030334", "evidence": [ { "database": "UniProtKB", "id": "P10767", "url": "https://www.uniprot.org/uniprot/P10767" } ], "pmid": "" }, { "name": "cartilage condensation", "id": "GO:0001502", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001502", "evidence": [ { "database": "UniProtKB", "id": "P10767", "url": "https://www.uniprot.org/uniprot/P10767" } ], "pmid": "" }, { "name": "myoblast differentiation", "id": "GO:0045445", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045445", "evidence": [ { "database": "UniProtKB", "id": "P10767", "url": "https://www.uniprot.org/uniprot/P10767" } ], "pmid": "" }, { "name": "fibroblast growth factor receptor signaling pathway", "id": "GO:0008543", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008543", "evidence": [ { "database": "UniProtKB", "id": "P10767", "url": "https://www.uniprot.org/uniprot/P10767" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 4, "go_terms": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "P10767", "url": "https://www.uniprot.org/uniprot/P10767" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P10767", "url": "https://www.uniprot.org/uniprot/P10767" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P10767", "url": "https://www.uniprot.org/uniprot/P10767" } ], "pmid": "" }, { "name": "sarcolemma", "id": "GO:0042383", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042383", "evidence": [ { "database": "UniProtKB", "id": "P10767", "url": "https://www.uniprot.org/uniprot/P10767" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 2, "go_terms": [ { "name": "growth factor activity", "id": "GO:0008083", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008083", "evidence": [ { "database": "UniProtKB", "id": "P10767", "url": "https://www.uniprot.org/uniprot/P10767" } ], "pmid": "" }, { "name": "fibroblast growth factor receptor binding", "id": "GO:0005104", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005104", "evidence": [ { "database": "UniProtKB", "id": "P10767", "url": "https://www.uniprot.org/uniprot/P10767" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 45, "end_pos": 47, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "sequence_features": { "n_linked_sites": [ 45 ], "o_linked_sites": [], "snv_sites": [ 47, 107, 188, 198 ], "glycation_sites": [], "phosphorylation_sites": [], "sequon_annotation_sites": [ { "start_pos": 45, "end_pos": 47 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 4 }, { "field": "total_sites", "count": 4 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 3 }, { "field": "total_sites", "count": 3 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 228 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }