{ "uniprot_canonical_ac": "O15164-1", "uniprot_ac": "O15164", "uniprot_id": "TIF1A_HUMAN", "mass": { "chemical_mass": 116831.0, "monoisotopic_mass": 116831.0 }, "refseq": { "ac": "NP_003843", "name": "transcription intermediary factor 1-alpha isoform b", "summary": "The protein encoded by this gene mediates transcriptional control by interaction with the activation function 2 (AF2) region of several nuclear receptors, including the estrogen, retinoic acid, and vitamin D3 receptors. The protein localizes to nuclear bodies and is thought to associate with chromatin and heterochromatin-associated factors. The protein is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains - a RING, a B-box type 1 and a B-box type 2 - and a coiled-coil region. Two alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003843" }, "gene_names": [ { "name": "TRIM24", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O15164", "id": "O15164" }, { "name": "RNF82", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O15164", "id": "O15164" }, { "name": "TIF1A", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O15164", "id": "O15164" }, { "name": "TIF1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O15164", "id": "O15164" }, { "name": "TRIM24", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003843", "id": "NP_003843" }, { "name": "hTIF1; PTC6; RNF82; TF1A; TIF1; TIF1A; TIF1ALPHA", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003843", "id": "NP_003843" } ], "protein_names": [ { "name": "Transcription intermediary factor 1-alpha", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O15164" }, { "name": "2.3.2.27", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15164" }, { "name": "E3 ubiquitin-protein ligase TRIM24", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15164" }, { "name": "RING finger protein 82", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15164" }, { "name": "RING-type E3 ubiquitin transferase TIF1-alpha", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15164" }, { "name": "TIF1-alpha", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15164" }, { "name": "Tripartite motif-containing protein 24", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15164" }, { "name": "transcription intermediary factor 1-alpha isoform b", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003843", "id": "NP_003843" }, { "name": "transcriptional intermediary factor 1; TIF1-alpha; RING finger protein 82; E3 ubiquitin-protein ligase TRIM24; RING-type E3 ubiquitin transferase TIF1-alpha", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003843", "id": "NP_003843" } ], "function": [ { "annotation": "MiR-339-3p inhibits cell growth and epithelial-mesenchymal transition in nasopharyngeal carcinoma by modulating the KAT6A/TRIM24 axis.", "evidence": [ { "database": "RefSeq", "id": "NP_003843", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003843" }, { "database": "PubMed", "id": "35976474", "url": "https://glygen.org/publication/PubMed/35976474" } ] }, { "annotation": "Novel insights into the recognition of acetylated histone H4 tail by the TRIM24 PHD-Bromo module. Erratum:[Biochem J. 2023 May 31;480(10):751. PMID: 37255272]", "evidence": [ { "database": "RefSeq", "id": "NP_003843", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003843" }, { "database": "PubMed", "id": "37075063", "url": "https://glygen.org/publication/PubMed/37075063" } ] }, { "annotation": "STAT1 is regulated by TRIM24 and promotes immunosuppression in head and neck squamous carcinoma cells, but enhances T cell antitumour immunity in the tumour microenvironment.", "evidence": [ { "database": "RefSeq", "id": "NP_003843", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003843" }, { "database": "PubMed", "id": "35595823", "url": "https://glygen.org/publication/PubMed/35595823" } ] }, { "annotation": "TRIM24 controls induction of latent HIV-1 by stimulating transcriptional elongation. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_003843", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003843" }, { "database": "PubMed", "id": "36690785", "url": "https://glygen.org/publication/PubMed/36690785" } ] }, { "annotation": "TRIM24 is critical for the cellular response to DNA double-strand breaks through regulating the recruitment of MRN complex.", "evidence": [ { "database": "RefSeq", "id": "NP_003843", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003843" }, { "database": "PubMed", "id": "36550358", "url": "https://glygen.org/publication/PubMed/36550358" } ] }, { "annotation": "The protein encoded by this gene mediates transcriptional control by interaction with the activation function 2 (AF2) region of several nuclear receptors, including the estrogen, retinoic acid, and vitamin D3 receptors. The protein localizes to nuclear bodies and is thought to associate with chromatin and heterochromatin-associated factors. The protein is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains - a RING, a B-box type 1 and a B-box type 2 - and a coiled-coil region. Two alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_003843", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003843" } ] }, { "annotation": "Transcriptional coactivator that interacts with numerous nuclear receptors and coactivators and modulates the transcription of target genes. Interacts with chromatin depending on histone H3 modifications, having the highest affinity for histone H3 that is both unmodified at 'Lys-4' (H3K4me0) and acetylated at 'Lys-23' (H3K23ac). Has E3 protein-ubiquitin ligase activity. During the DNA damage response, participates in an autoregulatory feedback loop with TP53. Early in response to DNA damage, ATM kinase phosphorylates TRIM24 leading to its ubiquitination and degradation. After sufficient DNA repair has occurred, TP53 activates TRIM24 transcription, ultimately leading to TRIM24-mediated TP53 ubiquitination and degradation (PubMed:24820418). Plays a role in the regulation of cell proliferation and apoptosis, at least in part via its effects on p53/TP53 levels. Up-regulates ligand-dependent transcription activation by AR, GCR/NR3C1, thyroid hormone receptor (TR) and ESR1. Modulates transcription activation by retinoic acid (RA) receptors, including RARA. Plays a role in regulating retinoic acid-dependent proliferation of hepatocytes (By similarity). Participates also in innate immunity by mediating the specific 'Lys-63'-linked ubiquitination of TRAF3 leading to activation of downstream signal transduction of the type I IFN pathway (PubMed:32324863). Additionally, negatively regulates NLRP3/CASP1/IL-1beta-mediated pyroptosis and cell migration probably by ubiquitinating NLRP3 (PubMed:33724611).", "evidence": [ { "database": "UniProtKB", "id": "O15164", "url": "https://www.uniprot.org/uniprot/O15164#function" }, { "database": "PubMed", "id": "21164480", "url": "https://glygen.org/publication/PubMed/21164480" }, { "database": "PubMed", "id": "19556538", "url": "https://glygen.org/publication/PubMed/19556538" }, { "database": "PubMed", "id": "16322096", "url": "https://glygen.org/publication/PubMed/16322096" }, { "database": "PubMed", "id": "24820418", "url": "https://glygen.org/publication/PubMed/24820418" }, { "database": "PubMed", "id": "32324863", "url": "https://glygen.org/publication/PubMed/32324863" }, { "database": "PubMed", "id": "33724611", "url": "https://glygen.org/publication/PubMed/33724611" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "O15164", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O15164" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 146, "end_pos": 146, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "K", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (KDT->NDT).", "chr_id": "7", "chr_pos": "138504363", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "K146", "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" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "O15164", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O15164" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 153, "end_pos": 153, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (SST->NST).", "chr_id": "7", "chr_pos": "138504383", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S153", "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": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs192891114", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs192891114" }, { "id": "rs192891114", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs192891114" }, { "id": "rs192891114", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs192891114" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 580, "end_pos": 580, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->A).", "chr_id": "7", "chr_pos": "138570863", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "0.0002", "site_lbl": "T580", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs776795788", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776795788" }, { "id": "rs776795788", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776795788" }, { "id": "rs776795788", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs776795788" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 610, "end_pos": 610, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DLS->NLS).", "chr_id": "7", "chr_pos": "138570953", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D610", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1179585617", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1179585617" }, { "id": "rs1179585617", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1179585617" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 622, "end_pos": 622, "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NLP->NLT).", "chr_id": "7", "chr_pos": "138570989", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P622", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs564530883", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs564530883" }, { "id": "rs564530883", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs564530883" }, { "id": "rs564530883", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs564530883" }, { "id": "rs564530883", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs564530883" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 754, "end_pos": 754, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NAN->NAS).", "chr_id": "7", "chr_pos": "138579208", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "0.0002", "site_lbl": "N754", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs963806235", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs963806235" }, { "id": "rs963806235", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs963806235" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 756, "end_pos": 756, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NYP->NYS).", "chr_id": "7", "chr_pos": "138579213", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P756", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1043216107", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1043216107" }, { "id": "rs1043216107", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1043216107#frequency_tab" }, { "id": "rs1043216107", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1043216107" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 770, "end_pos": 770, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SST->NST).", "chr_id": "7", "chr_pos": "138579256", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S770", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs760057002", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760057002" }, { "id": "rs760057002", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760057002" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 899, "end_pos": 899, "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (KLT->NLT).", "chr_id": "7", "chr_pos": "138580668_138580672", "ref_nt": "l", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K899", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O15164", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O15164" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 990, "end_pos": 990, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "S", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (NAG->NAS).", "chr_id": "7", "chr_pos": "138584766", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "G990", "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Aerodigestive tract cancer, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Escc, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "gastric cardia adenocarcinoma, susceptibility to", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "mutagenesis": [ { "start_pos": 768, "end_pos": 768, "sequence_org": "S", "sequence_mut": "A", "comment": "Ubiquitination is significantly lower than wild-type.", "evidence": [ { "database": "UniProtKB", "id": "O15164", "url": "https://www.uniprot.org/uniprot/O15164" }, { "database": "PubMed", "id": "24820418", "url": "https://glygen.org/publication/PubMed/24820418" } ] }, { "start_pos": 827, "end_pos": 827, "sequence_org": "D", "sequence_mut": "A", "comment": "Strongly reduced affinity for histone H3 that is not methylated at 'Lys-4' (H3K4me0).", "evidence": [ { "database": "UniProtKB", "id": "O15164", "url": "https://www.uniprot.org/uniprot/O15164" }, { "database": "PubMed", "id": "21164480", "url": "https://glygen.org/publication/PubMed/21164480" } ] }, { "start_pos": 840, "end_pos": 840, "sequence_org": "C", "sequence_mut": "W", "comment": "Abolishes interaction with histone H3.", "evidence": [ { "database": "UniProtKB", "id": "O15164", "url": "https://www.uniprot.org/uniprot/O15164" }, { "database": "PubMed", "id": "21164480", "url": "https://glygen.org/publication/PubMed/21164480" } ] }, { "start_pos": 979, "end_pos": 980, "sequence_org": "FN", "sequence_mut": "AA", "comment": "Strongly reduced affinity for histone H3 that is acetylated at 'Lys-23' (H3K23ac).", "evidence": [ { "database": "UniProtKB", "id": "O15164", "url": "https://www.uniprot.org/uniprot/O15164" }, { "database": "PubMed", "id": "21164480", "url": "https://glygen.org/publication/PubMed/21164480" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "76.57", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000122779", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000122779" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "83.98", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000122779", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000122779" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "84.35", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000122779", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000122779" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "81.55", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000122779", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000122779" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "80.73", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000122779", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000122779" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "83.89", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000122779", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000122779" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "77.19", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000122779", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000122779" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "82.93", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000122779", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000122779" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "77.77", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000122779", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000122779" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "76.54", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000122779", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000122779" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "89.29", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000122779", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000122779" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "82.42", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000122779", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000122779" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "81.74", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000122779", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000122779" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O15164", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15164" } ], "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": "Yes", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O15164", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15164" } ], "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": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O15164", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15164" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder 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": "O15164", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15164" } ], "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": "Yes", "trend": "up", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "O15164", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15164" } ], "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": "Yes", "trend": "up", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "O15164", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15164" } ], "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": "Yes", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O15164", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15164" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "No", "trend": "down", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "O15164", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15164" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "O15164", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15164" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "O15164", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15164" } ], "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": "Esophageal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "O15164", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15164" } ], "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Aerodigestive tract cancer, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Escc, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "gastric cardia adenocarcinoma, susceptibility to", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Colorectal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:9256", "evidence": [ { "database": "BioXpress", "id": "O15164", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15164" } ], "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": "O15164", "url": "https://www.uniprot.org/uniprot/O15164" } ], "common_name": "Human" } ], "gene": [ { "name": "TRIM24", "url": "https://www.uniprot.org/uniprot/O15164", "locus": { "chromosome": "7", "start_pos": 138589996, "end_pos": 138460259, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000122779", "url": "https://www.ensembl.org/id/ENSG00000122779" } ] } } ], "crossref": [ { "id": "ENSG00000122779", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000122779", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "O15164", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O15164", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "cd05502", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd05502", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "cd15622", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd15622", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "cd16764", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd16764", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "cd19828", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd19828", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "cd19845", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd19845", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "CHEMBL3108638", "url": "https://www.ebi.ac.uk/chembldb/target/inspect/CHEMBL3108638", "database": "ChEMBL", "categories": [ "Other" ] }, { "id": "TRIM24", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM24", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "8805", "url": "https://www.ncbi.nlm.nih.gov/gene/8805", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "11812", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=11812", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "O15164", "url": "https://www.ebi.ac.uk/intact/interactors/id:O15164*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR000315", "url": "https://www.ebi.ac.uk/interpro/entry/IPR000315", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR001487", "url": "https://www.ebi.ac.uk/interpro/entry/IPR001487", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR001841", "url": "https://www.ebi.ac.uk/interpro/entry/IPR001841", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR001965", "url": "https://www.ebi.ac.uk/interpro/entry/IPR001965", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR003649", "url": "https://www.ebi.ac.uk/interpro/entry/IPR003649", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR011011", "url": "https://www.ebi.ac.uk/interpro/entry/IPR011011", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR013083", "url": "https://www.ebi.ac.uk/interpro/entry/IPR013083", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR017907", "url": "https://www.ebi.ac.uk/interpro/entry/IPR017907", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR018359", "url": "https://www.ebi.ac.uk/interpro/entry/IPR018359", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR019786", "url": "https://www.ebi.ac.uk/interpro/entry/IPR019786", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR019787", "url": "https://www.ebi.ac.uk/interpro/entry/IPR019787", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036427", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036427", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:8805", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:8805", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "603406", "url": "http://www.omim.org/entry/603406", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O15164", "url": "https://www.nextprot.org/entry/NX_O15164", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "O15164", "url": "https://oglcnac.org/atlas/detail/O15164", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "O15164", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O15164", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "HMAGRGR", "url": "https://omabrowser.org/oma/group/HMAGRGR/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "56754at2759", "url": "http://www.orthodb.org/?query=56754at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR45915", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR45915", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR45915:SF4", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR45915:SF4", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "2YYN", "url": "https://www.rcsb.org/structure/2YYN", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3O33", "url": "https://www.rcsb.org/structure/3O33", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3O34", "url": "https://www.rcsb.org/structure/3O34", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3O35", "url": "https://www.rcsb.org/structure/3O35", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3O36", "url": "https://www.rcsb.org/structure/3O36", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3O37", "url": "https://www.rcsb.org/structure/3O37", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4YAB", "url": "https://www.rcsb.org/structure/4YAB", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4YAD", "url": "https://www.rcsb.org/structure/4YAD", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4YAT", "url": "https://www.rcsb.org/structure/4YAT", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4YAX", "url": "https://www.rcsb.org/structure/4YAX", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4YBM", "url": "https://www.rcsb.org/structure/4YBM", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4YBS", "url": "https://www.rcsb.org/structure/4YBS", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4YBT", "url": "https://www.rcsb.org/structure/4YBT", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4YC9", "url": "https://www.rcsb.org/structure/4YC9", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4ZQL", "url": "https://www.rcsb.org/structure/4ZQL", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5H1T", "url": "https://www.rcsb.org/structure/5H1T", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5H1U", "url": "https://www.rcsb.org/structure/5H1U", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5H1V", "url": "https://www.rcsb.org/structure/5H1V", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7B9X", "url": "https://www.rcsb.org/structure/7B9X", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF00439", "url": "http://pfam.xfam.org/family/PF00439", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF00628", "url": "http://pfam.xfam.org/family/PF00628", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF00643", "url": "http://pfam.xfam.org/family/PF00643", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O15164", "url": "https://pharos.nih.gov/targets/O15164", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O15164", "url": "http://purl.obolibrary.org/obo/PR_O15164", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-1839117", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1839117", "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-6802952", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6802952", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_003843", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003843", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "O15164", "url": "https://www.uniprot.org/uniprot/O15164", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O15164-1", "url": "https://www.uniprot.org/uniprot/O15164-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O15164-2", "url": "https://www.uniprot.org/uniprot/O15164-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MEVAVEKAVAAAAAASAAASGGPSAAPSGENEAESRQGPDSERGGEAARLNLLDTCAVCHQNIQSRAPKLLPCLHSFCQRCLPAPQRYLMLPAPMLGSAETPPPVPAPGSPVSGSSPFATQVGVIRCPVCSQECAERHIIDNFFVKDTTEVPSSTVEKSNQVCTSCEDNAEANGFCVECVEWLCKTCIRAHQRVKFTKDHTVRQKEEVSPEAVGVTSQRPVFCPFHKKEQLKLYCETCDKLTCRDCQLLEHKEHRYQFIEEAFQNQKVIIDTLITKLMEKTKYIKFTGNQIQNRIIEVNQNQKQVEQDIKVAIFTLMVEINKKGKALLHQLESLAKDHRMKLMQQQQEVAGLSKQLEHVMHFSKWAVSSGSSTALLYSKRLITYRLRHLLRARCDASPVTNNTIQFHCDPSFWAQNIINLGSLVIEDKESQPQMPKQNPVVEQNSQPPSGLSSNQLSKFPTQISLAQLRLQHMQQQVMAQRQQVQRRPAPVGLPNPRMQGPIQQPSISHQQPPPRLINFQNHSPKPNGPVLPPHPQQLRYPPNQNIPRQAIKPNPLQMAFLAQQAIKQWQISSGQGTPSTTNSTSSTPSSPTITSAAGYDGKAFGSPMIDLSSPVGGSYNLPSLPDIDCSSTIMLDNIVRKDTNIDHGQPRPPSNRTVQSPNSSVPSPGLAGPVTMTSVHPPIRSPSASSVGSRGSSGSSSKPAGADSTHKVPVVMLEPIRIKQENSGPPENYDFPVVIVKQESDEESRPQNANYPRSILTSLLLNSSQSSTSEETVLRSDAPDSTGDQPGLHQDNSSNGKSEWLDPSQKSPLHVGETRKEDDPNEDWCAVCQNGGELLCCEKCPKVFHLSCHVPTLTNFPSGEWICTFCRDLSKPEVEYDCDAPSHNSEKKKTEGLVKLTPIDKRKCERLLLFLYCHEMSLAFQDPVPLTVPDYYKIIKNPMDLSTIKKRLQEDYSMYSKPEDFVADFRLIFQNCAEFNEPDSEVANAGIKLENYFEELLKNLYPEKRFPKPEFRNESEDNKFSDDSDDDFVQPRKKRLKSIEERQLLK", "length": 1050, "header": "sp|O15164-1|TIF1A_HUMAN Isoform 1 of Transcription intermediary factor 1-alpha OS=Homo sapiens OX=9606 GN=TRIM24 PE=1 SV=3 CANONICAL=O15164-1" }, "isoforms": [ { "isoform_ac": "O15164-1", "url": "", "sequence": { "sequence": "MEVAVEKAVAAAAAASAAASGGPSAAPSGENEAESRQGPDSERGGEAARLNLLDTCAVCHQNIQSRAPKLLPCLHSFCQRCLPAPQRYLMLPAPMLGSAETPPPVPAPGSPVSGSSPFATQVGVIRCPVCSQECAERHIIDNFFVKDTTEVPSSTVEKSNQVCTSCEDNAEANGFCVECVEWLCKTCIRAHQRVKFTKDHTVRQKEEVSPEAVGVTSQRPVFCPFHKKEQLKLYCETCDKLTCRDCQLLEHKEHRYQFIEEAFQNQKVIIDTLITKLMEKTKYIKFTGNQIQNRIIEVNQNQKQVEQDIKVAIFTLMVEINKKGKALLHQLESLAKDHRMKLMQQQQEVAGLSKQLEHVMHFSKWAVSSGSSTALLYSKRLITYRLRHLLRARCDASPVTNNTIQFHCDPSFWAQNIINLGSLVIEDKESQPQMPKQNPVVEQNSQPPSGLSSNQLSKFPTQISLAQLRLQHMQQQVMAQRQQVQRRPAPVGLPNPRMQGPIQQPSISHQQPPPRLINFQNHSPKPNGPVLPPHPQQLRYPPNQNIPRQAIKPNPLQMAFLAQQAIKQWQISSGQGTPSTTNSTSSTPSSPTITSAAGYDGKAFGSPMIDLSSPVGGSYNLPSLPDIDCSSTIMLDNIVRKDTNIDHGQPRPPSNRTVQSPNSSVPSPGLAGPVTMTSVHPPIRSPSASSVGSRGSSGSSSKPAGADSTHKVPVVMLEPIRIKQENSGPPENYDFPVVIVKQESDEESRPQNANYPRSILTSLLLNSSQSSTSEETVLRSDAPDSTGDQPGLHQDNSSNGKSEWLDPSQKSPLHVGETRKEDDPNEDWCAVCQNGGELLCCEKCPKVFHLSCHVPTLTNFPSGEWICTFCRDLSKPEVEYDCDAPSHNSEKKKTEGLVKLTPIDKRKCERLLLFLYCHEMSLAFQDPVPLTVPDYYKIIKNPMDLSTIKKRLQEDYSMYSKPEDFVADFRLIFQNCAEFNEPDSEVANAGIKLENYFEELLKNLYPEKRFPKPEFRNESEDNKFSDDSDDDFVQPRKKRLKSIEERQLLK", "length": 1050, "header": "sp|O15164-1|TIF1A_HUMAN Isoform 1 of Transcription intermediary factor 1-alpha OS=Homo sapiens OX=9606 GN=TRIM24 PE=1 SV=3 CANONICAL=O15164-1" }, "locus": { "chromosome": "7", "start_pos": 138584948, "end_pos": 138460549, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000343526.9", "url": "https://www.ensembl.org/id/ENST00000343526.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000340507.4", "url": "https://www.ensembl.org/id/ENSP00000340507.4" } ] } }, { "isoform_ac": "O15164-2", "url": "", "sequence": { "sequence": "MEVAVEKAVAAAAAASAAASGGPSAAPSGENEAESRQGPDSERGGEAARLNLLDTCAVCHQNIQSRAPKLLPCLHSFCQRCLPAPQRYLMLPAPMLGSAETPPPVPAPGSPVSGSSPFATQVGVIRCPVCSQECAERHIIDNFFVKDTTEVPSSTVEKSNQVCTSCEDNAEANGFCVECVEWLCKTCIRAHQRVKFTKDHTVRQKEEVSPEAVGVTSQRPVFCPFHKKEQLKLYCETCDKLTCRDCQLLEHKEHRYQFIEEAFQNQKVIIDTLITKLMEKTKYIKFTGNQIQNRIIEVNQNQKQVEQDIKVAIFTLMVEINKKGKALLHQLESLAKDHRMKLMQQQQEVAGLSKQLEHVMHFSKWAVSSGSSTALLYSKRLITYRLRHLLRARCDASPVTNNTIQFHCDPSFWAQNIINLGSLVIEDKESQPQMPKQNPVVEQNSQPPSGLSSNQLSKFPTQISLAQLRLQHMQQQQPPPRLINFQNHSPKPNGPVLPPHPQQLRYPPNQNIPRQAIKPNPLQMAFLAQQAIKQWQISSGQGTPSTTNSTSSTPSSPTITSAAGYDGKAFGSPMIDLSSPVGGSYNLPSLPDIDCSSTIMLDNIVRKDTNIDHGQPRPPSNRTVQSPNSSVPSPGLAGPVTMTSVHPPIRSPSASSVGSRGSSGSSSKPAGADSTHKVPVVMLEPIRIKQENSGPPENYDFPVVIVKQESDEESRPQNANYPRSILTSLLLNSSQSSTSEETVLRSDAPDSTGDQPGLHQDNSSNGKSEWLDPSQKSPLHVGETRKEDDPNEDWCAVCQNGGELLCCEKCPKVFHLSCHVPTLTNFPSGEWICTFCRDLSKPEVEYDCDAPSHNSEKKKTEGLVKLTPIDKRKCERLLLFLYCHEMSLAFQDPVPLTVPDYYKIIKNPMDLSTIKKRLQEDYSMYSKPEDFVADFRLIFQNCAEFNEPDSEVANAGIKLENYFEELLKNLYPEKRFPKPEFRNESEDNKFSDDSDDDFVQPRKKRLKSIEERQLLK", "length": 1016, "header": "sp|O15164-2|TIF1A_HUMAN Isoform 2 of Transcription intermediary factor 1-alpha OS=Homo sapiens OX=9606 GN=TRIM24 PE=1 SV=3 CANONICAL=O15164-1" }, "locus": { "chromosome": "7", "start_pos": 138584948, "end_pos": 138460549, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000415680.6", "url": "https://www.ensembl.org/id/ENST00000415680.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000390829.2", "url": "https://www.ensembl.org/id/ENSP00000390829.2" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 580, "start_aa": "Thr", "end_pos": 580, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr580", "evidence": [ { "id": "O15164", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O15164" }, { "id": "32119511", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32119511" }, { "id": "33214551", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33214551" }, { "id": "30620550", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30620550" }, { "id": "35132862", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35132862" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "O15164", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O15164" }, { "id": "32938750", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32938750" } ] } ], "phosphorylation": [ { "start_pos": 1019, "end_pos": 1019, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O15164", "url": "https://www.uniprot.org/uniprot/O15164" }, { "database": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" }, { "database": "iPTMnet", "id": "O15164", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15164" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" }, { "database": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "phospho.ELM", "id": "O15164", "url": "http://phospho.elm.eu.org/byAccession/O15164.html" } ], "site_lbl": "Ser1019" }, { "start_pos": 101, "end_pos": 101, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "O15164", "url": "https://www.uniprot.org/uniprot/O15164" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "iPTMnet", "id": "O15164", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15164" } ], "site_lbl": "Thr101" }, { "start_pos": 1025, "end_pos": 1025, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O15164", "url": "https://www.uniprot.org/uniprot/O15164" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" }, { "database": "iPTMnet", "id": "O15164", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15164" }, { "database": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "phospho.ELM", "id": "O15164", "url": "http://phospho.elm.eu.org/byAccession/O15164.html" } ], "site_lbl": "Ser1025" }, { "start_pos": 1028, "end_pos": 1028, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O15164", "url": "https://www.uniprot.org/uniprot/O15164" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" }, { "database": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" }, { "database": "iPTMnet", "id": "O15164", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15164" }, { "database": "PubMed", "id": "17322306", "url": "https://glygen.org/publication/PubMed/17322306" }, { "database": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "phospho.ELM", "id": "O15164", "url": "http://phospho.elm.eu.org/byAccession/O15164.html" } ], "site_lbl": "Ser1028" }, { "start_pos": 1042, "end_pos": 1042, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O15164", "url": "https://www.uniprot.org/uniprot/O15164" }, { "database": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" }, { "database": "iPTMnet", "id": "O15164", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15164" }, { "database": "PubMed", "id": "18212344", "url": "https://glygen.org/publication/PubMed/18212344" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser1042" }, { "start_pos": 110, "end_pos": 110, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O15164", "url": "https://www.uniprot.org/uniprot/O15164" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "iPTMnet", "id": "O15164", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15164" } ], "site_lbl": "Ser110" }, { "start_pos": 654, "end_pos": 654, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O15164", "url": "https://www.uniprot.org/uniprot/O15164" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "O15164", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15164" } ], "site_lbl": "Ser654" }, { "start_pos": 660, "end_pos": 660, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O15164", "url": "https://www.uniprot.org/uniprot/O15164" }, { "database": "iPTMnet", "id": "O15164", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15164" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" }, { "database": "phospho.ELM", "id": "O15164", "url": "http://phospho.elm.eu.org/byAccession/O15164.html" } ], "site_lbl": "Ser660" }, { "start_pos": 667, "end_pos": 667, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O15164", "url": "https://www.uniprot.org/uniprot/O15164" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "iPTMnet", "id": "O15164", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15164" }, { "database": "phospho.ELM", "id": "O15164", "url": "http://phospho.elm.eu.org/byAccession/O15164.html" } ], "site_lbl": "Ser667" }, { "start_pos": 685, "end_pos": 685, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O15164", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15164" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "phospho.ELM", "id": "O15164", "url": "http://phospho.elm.eu.org/byAccession/O15164.html" } ], "site_lbl": "Ser685" }, { "start_pos": 687, "end_pos": 687, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O15164", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15164" }, { "database": "PubMed", "id": "19664995", "url": "https://glygen.org/publication/PubMed/19664995" } ], "site_lbl": "Ser687" }, { "start_pos": 744, "end_pos": 744, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O15164", "url": "https://www.uniprot.org/uniprot/O15164" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" }, { "database": "iPTMnet", "id": "O15164", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15164" } ], "site_lbl": "Ser744" }, { "start_pos": 768, "end_pos": 768, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine; by ATM", "evidence": [ { "database": "UniProtKB", "id": "O15164", "url": "https://www.uniprot.org/uniprot/O15164" }, { "database": "iPTMnet", "id": "O15164", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15164" }, { "database": "PubMed", "id": "17525332", "url": "https://glygen.org/publication/PubMed/17525332" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "phospho.ELM", "id": "O15164", "url": "http://phospho.elm.eu.org/byAccession/O15164.html" }, { "database": "PubMed", "id": "24820418", "url": "https://glygen.org/publication/PubMed/24820418" } ], "site_lbl": "Ser768" }, { "start_pos": 771, "end_pos": 771, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O15164", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15164" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser771" }, { "start_pos": 772, "end_pos": 772, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O15164", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15164" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Thr772" }, { "start_pos": 773, "end_pos": 773, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O15164", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15164" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "phospho.ELM", "id": "O15164", "url": "http://phospho.elm.eu.org/byAccession/O15164.html" } ], "site_lbl": "Ser773" }, { "start_pos": 808, "end_pos": 808, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O15164", "url": "https://www.uniprot.org/uniprot/O15164" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "iPTMnet", "id": "O15164", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15164" }, { "database": "PubMed", "id": "19664995", "url": "https://glygen.org/publication/PubMed/19664995" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "phospho.ELM", "id": "O15164", "url": "http://phospho.elm.eu.org/byAccession/O15164.html" } ], "site_lbl": "Ser808" }, { "start_pos": 811, "end_pos": 811, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O15164", "url": "https://www.uniprot.org/uniprot/O15164" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" }, { "database": "iPTMnet", "id": "O15164", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15164" }, { "database": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" }, { "database": "PubMed", "id": "19664995", "url": "https://glygen.org/publication/PubMed/19664995" }, { "database": "phospho.ELM", "id": "O15164", "url": "http://phospho.elm.eu.org/byAccession/O15164.html" } ], "site_lbl": "Ser811" }, { "start_pos": 818, "end_pos": 818, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "O15164", "url": "https://www.uniprot.org/uniprot/O15164" }, { "database": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" }, { "database": "iPTMnet", "id": "O15164", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15164" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" } ], "site_lbl": "Thr818" } ], "glycation": [], "keywords": [ "enzyme", "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "TIF1gamma, a novel member of the transcriptional intermediary factor 1 family.", "journal": "Oncogene", "date": "1999", "authors": "Venturini L, You J, Stadler M, Galien R, Lallemand V, Koken M H, Mattei M G, Ganser A, Chambon P, Losson R, de Th\u00e9 H", "evidence": [ { "database": "UniProtKB", "id": "O15164", "url": "https://www.uniprot.org/uniprot/O15164" } ], "reference": [ { "type": "PubMed", "id": "10022127", "url": "https://glygen.org/publication/PubMed/10022127" } ] }, { "title": "The transcription coactivator HTIF1 and a related protein are fused to the RET receptor tyrosine kinase in childhood papillary thyroid carcinomas.", "journal": "Oncogene", "date": "1999", "authors": "Klugbauer S, Rabes HM", "evidence": [ { "database": "UniProtKB", "id": "O15164", "url": "https://www.uniprot.org/uniprot/O15164" } ], "reference": [ { "type": "PubMed", "id": "10439047", "url": "https://glygen.org/publication/PubMed/10439047" } ] }, { "title": "Characterization of FIM-FGFR1, the fusion product of the myeloproliferative disorder-associated t(8;13) translocation.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Ollendorff V, Guasch G, Isnardon D, Galindo R, Birnbaum D, Pebusque MJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-1839117", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1839117" } ], "reference": [ { "type": "PubMed", "id": "10480903", "url": "https://glygen.org/publication/PubMed/10480903" } ] }, { "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": "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": "FGFR1 is fused to the centrosome-associated protein CEP110 in the 8p12 stem cell myeloproliferative disorder with t(8;9)(p12;q33).", "journal": "Blood", "date": "2000", "authors": "Guasch G, Mack GJ, Popovici C, Dastugue N, Birnbaum D, Rattner JB, Pebusque MJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-1839117", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1839117" } ], "reference": [ { "type": "PubMed", "id": "10688839", "url": "https://glygen.org/publication/PubMed/10688839" } ] }, { "title": "ZNF198-FGFR1 transforming activity depends on a novel proline-rich ZNF198 oligomerization domain.", "journal": "Blood", "date": "2000", "authors": "Xiao S, McCarthy JG, Aster JC, Fletcher JA", "evidence": [ { "database": "Reactome", "id": "R-HSA-1839117", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1839117" } ], "reference": [ { "type": "PubMed", "id": "10887137", "url": "https://glygen.org/publication/PubMed/10887137" } ] }, { "title": "Transformation and Stat activation by derivatives of FGFR1, FGFR3, and FGFR4.", "journal": "Oncogene", "date": "2000", "authors": "Hart KC, Robertson SC, Kanemitsu MY, Meyer AN, Tynan JA, Donoghue DJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-5655302", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5655302" } ], "reference": [ { "type": "PubMed", "id": "10918587", "url": "https://glygen.org/publication/PubMed/10918587" } ] }, { "title": "ZNF198-FGFR1 transforms Ba/F3 cells to growth factor independence and results in high level tyrosine phosphorylation of STATS 1 and 5.", "journal": "Neoplasia (New York, N.Y.)", "date": "1999", "authors": "Smedley D, Demiroglu A, Abdul-Rauf M, Heath C, Cooper C, Shipley J, Cross NC", "evidence": [ { "database": "Reactome", "id": "R-HSA-1839117", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1839117" } ], "reference": [ { "type": "PubMed", "id": "10935490", "url": "https://glygen.org/publication/PubMed/10935490" } ] }, { "title": "Crucial role of the H11-H12 loop in stabilizing the active conformation of the human mineralocorticoid receptor.", "journal": "Mol. Endocrinol.", "date": "2000", "authors": "Hellal-Levy C, Fagart J, Souque A, Wurtz JM, Moras D, Rafestin-Oblin ME", "evidence": [ { "database": "UniProtKB", "id": "O15164", "url": "https://www.uniprot.org/uniprot/O15164" } ], "reference": [ { "type": "PubMed", "id": "10935545", "url": "https://glygen.org/publication/PubMed/10935545" } ] }, { "title": "Activated fibroblast growth factor receptor 3 is an oncogene that contributes to tumor progression in multiple myeloma.", "journal": "Blood", "date": "2001", "authors": "Chesi M, Brents LA, Ely SA, Bais C, Robbiani DF, Mesri EA, Kuehl WM, Bergsagel PL", "evidence": [ { "database": "Reactome", "id": "R-HSA-5655302", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5655302" } ], "reference": [ { "type": "PubMed", "id": "11157491", "url": "https://glygen.org/publication/PubMed/11157491" } ] }, { "title": "Deregulated FGFR3 mutants in multiple myeloma cell lines with t(4;14): comparative analysis of Y373C, K650E and the novel G384D mutations.", "journal": "Oncogene", "date": "2001", "authors": "Ronchetti D, Greco A, Compasso S, Colombo G, Dell'Era P, Otsuki T, Lombardi L, Neri A", "evidence": [ { "database": "Reactome", "id": "R-HSA-5655302", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5655302" } ], "reference": [ { "type": "PubMed", "id": "11429702", "url": "https://glygen.org/publication/PubMed/11429702" } ] }, { "title": "8p12 stem cell myeloproliferative disorder: the FOP-fibroblast growth factor receptor 1 fusion protein of the t(6;8) translocation induces cell survival mediated by mitogen-activated protein kinase and phosphatidylinositol 3-kinase/Akt/mTOR pathways.", "journal": "Molecular and cellular biology", "date": "2001", "authors": "Guasch G, Ollendorff V, Borg JP, Birnbaum D, Pebusque MJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-1839117", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1839117" } ], "reference": [ { "type": "PubMed", "id": "11689702", "url": "https://glygen.org/publication/PubMed/11689702" } ] }, { "title": "The t(8;22) in chronic myeloid leukemia fuses BCR to FGFR1: transforming activity and specific inhibition of FGFR1 fusion proteins.", "journal": "Blood", "date": "2001", "authors": "Demiroglu A, Steer EJ, Heath C, Taylor K, Bentley M, Allen SL, Koduru P, Brody JP, Hawson G, Rodwell R, Doody ML, Carnicero F, Reiter A, Goldman JM, Melo JV, Cross NC", "evidence": [ { "database": "Reactome", "id": "R-HSA-1839117", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1839117" } ], "reference": [ { "type": "PubMed", "id": "11739186", "url": "https://glygen.org/publication/PubMed/11739186" } ] }, { "title": "Critical role for Gab2 in transformation by BCR/ABL.", "journal": "Cancer cell", "date": "2002", "authors": "Sattler M, Mohi MG, Pride YB, Quinnan LR, Malouf NA, Podar K, Gesbert F, Iwasaki H, Li S, Van Etten RA, Gu H, Griffin JD, Neel BG", "evidence": [ { "database": "Reactome", "id": "R-HSA-1839117", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1839117" } ], "reference": [ { "type": "PubMed", "id": "12124177", "url": "https://glygen.org/publication/PubMed/12124177" } ] }, { "title": "Endogenous retroviral sequence is fused to FGFR1 kinase in the 8p12 stem-cell myeloproliferative disorder with t(8;19)(p12;q13.3).", "journal": "Blood", "date": "2003", "authors": "Guasch G, Popovici C, Mugneret F, Chaffanet M, Pontarotti P, Birnbaum D, Pebusque MJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-1839117", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1839117" } ], "reference": [ { "type": "PubMed", "id": "12393597", "url": "https://glygen.org/publication/PubMed/12393597" } ] }, { "title": "The phosphotyrosine phosphatase SHP2 is a critical mediator of transformation induced by the oncogenic fibroblast growth factor receptor 3.", "journal": "Oncogene", "date": "2003", "authors": "Agazie YM, Movilla N, Ischenko I, Hayman MJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-5655302", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5655302" } ], "reference": [ { "type": "PubMed", "id": "14534538", "url": "https://glygen.org/publication/PubMed/14534538" } ] }, { "title": "Critical role of STAT5 activation in transformation mediated by ZNF198-FGFR1.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Heath C, Cross NC", "evidence": [ { "database": "Reactome", "id": "R-HSA-1839117", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1839117" } ], "reference": [ { "type": "PubMed", "id": "14660670", "url": "https://glygen.org/publication/PubMed/14660670" } ] }, { "title": "Identification of a novel gene, FGFR1OP2, fused to FGFR1 in 8p11 myeloproliferative syndrome.", "journal": "Genes, chromosomes & cancer", "date": "2004", "authors": "Grand EK, Grand FH, Chase AJ, Ross FM, Corcoran MM, Oscier DG, Cross NC", "evidence": [ { "database": "Reactome", "id": "R-HSA-1839117", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1839117" } ], "reference": [ { "type": "PubMed", "id": "15034873", "url": "https://glygen.org/publication/PubMed/15034873" } ] }, { "title": "Distinct stem cell myeloproliferative/T lymphoma syndromes induced by ZNF198-FGFR1 and BCR-FGFR1 fusion genes from 8p11 translocations.", "journal": "Cancer cell", "date": "2004", "authors": "Roumiantsev S, Krause DS, Neumann CA, Dimitri CA, Asiedu F, Cross NC, Van Etten RA", "evidence": [ { "database": "Reactome", "id": "R-HSA-1839117", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1839117" } ], "reference": [ { "type": "PubMed", "id": "15050920", "url": "https://glygen.org/publication/PubMed/15050920" } ] }, { "title": "PKC412 inhibits the zinc finger 198-fibroblast growth factor receptor 1 fusion tyrosine kinase and is active in treatment of stem cell myeloproliferative disorder.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2004", "authors": "Chen J, Deangelo DJ, Kutok JL, Williams IR, Lee BH, Wadleigh M, Duclos N, Cohen S, Adelsperger J, Okabe R, Coburn A, Galinsky I, Huntly B, Cohen PS, Meyer T, Fabbro D, Roesel J, Banerji L, Griffin JD, Xiao S, Fletcher JA, Stone RM, Gilliland DG", "evidence": [ { "database": "Reactome", "id": "R-HSA-1839117", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1839117" } ], "reference": [ { "type": "PubMed", "id": "15448205", "url": "https://glygen.org/publication/PubMed/15448205" } ] }, { "title": "8p11 myeloproliferative syndrome with a novel t(7;8) translocation leading to fusion of the FGFR1 and TIF1 genes.", "journal": "Genes, chromosomes & cancer", "date": "2005", "authors": "Belloni E, Trubia M, Gasparini P, Micucci C, Tapinassi C, Confalonieri S, Nuciforo P, Martino B, Lo-Coco F, Pelicci PG, Di Fiore PP", "evidence": [ { "database": "Reactome", "id": "R-HSA-1839117", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1839117" } ], "reference": [ { "type": "PubMed", "id": "15609342", "url": "https://glygen.org/publication/PubMed/15609342" } ] }, { "title": "Oncogenic AKAP9-BRAF fusion is a novel mechanism of MAPK pathway activation in thyroid cancer.", "journal": "The Journal of clinical investigation", "date": "2005", "authors": "Ciampi R, Knauf JA, Kerler R, Gandhi M, Zhu Z, Nikiforova MN, Rabes HM, Fagin JA, Nikiforov YE", "evidence": [ { "database": "Reactome", "id": "R-HSA-6802952", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6802952" } ], "reference": [ { "type": "PubMed", "id": "15630448", "url": "https://glygen.org/publication/PubMed/15630448" } ] }, { "title": "The t(8;17)(p11;q23) in the 8p11 myeloproliferative syndrome fuses MYO18A to FGFR1.", "journal": "Leukemia", "date": "2005", "authors": "Walz C, Chase A, Schoch C, Weisser A, Schlegel F, Hochhaus A, Fuchs R, Schmitt-Graff A, Hehlmann R, Cross NC, Reiter A", "evidence": [ { "database": "Reactome", "id": "R-HSA-1839117", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1839117" } ], "reference": [ { "type": "PubMed", "id": "15800673", "url": "https://glygen.org/publication/PubMed/15800673" } ] }, { "title": "FGFR3 as a therapeutic target of the small molecule inhibitor PKC412 in hematopoietic malignancies.", "journal": "Oncogene", "date": "2005", "authors": "Chen J, Lee BH, Williams IR, Kutok JL, Mitsiades CS, Duclos N, Cohen S, Adelsperger J, Okabe R, Coburn A, Moore S, Huntly BJ, Fabbro D, Anderson KC, Griffin JD, Gilliland DG", "evidence": [ { "database": "Reactome", "id": "R-HSA-5655302", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5655302" } ], "reference": [ { "type": "PubMed", "id": "16091734", "url": "https://glygen.org/publication/PubMed/16091734" } ] }, { "title": "Transcriptional intermediary factor 1alpha mediates physical interaction and functional synergy between the coactivator-associated arginine methyltransferase 1 and glucocorticoid receptor-interacting protein 1 nuclear receptor coactivators.", "journal": "Molecular endocrinology (Baltimore, Md.)", "date": "2006-06", "authors": "Teyssier Catherine, Ou Chen-Yin, Khetchoumian Konstantin, Losson R\u00e9gine, Stallcup Michael R", "evidence": [ { "database": "UniProtKB", "id": "O15164", "url": "https://www.uniprot.org/uniprot/O15164" } ], "reference": [ { "type": "PubMed", "id": "16322096", "url": "https://glygen.org/publication/PubMed/16322096" } ] }, { "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": "Phosphotyrosine profiling identifies the KG-1 cell line as a model for the study of FGFR1 fusions in acute myeloid leukemia.", "journal": "Blood", "date": "2006", "authors": "Gu TL, Goss VL, Reeves C, Popova L, Nardone J, Macneill J, Walters DK, Wang Y, Rush J, Comb MJ, Druker BJ, Polakiewicz RD", "evidence": [ { "database": "Reactome", "id": "R-HSA-1839117", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1839117" } ], "reference": [ { "type": "PubMed", "id": "16946300", "url": "https://glygen.org/publication/PubMed/16946300" } ] }, { "title": "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.", "journal": "Cell", "date": "2006", "authors": "Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M", "evidence": [ { "database": "UniProtKB", "id": "O15164", "url": "https://www.uniprot.org/uniprot/O15164" }, { "database": "iPTMnet", "id": "O15164-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15164-1" } ], "reference": [ { "type": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" } ] }, { "title": "Phosphopeptide enrichment by aliphatic hydroxy acid-modified metal oxide chromatography for nano-LC-MS/MS in proteomics applications.", "journal": "Molecular & cellular proteomics : MCP", "date": "2007", "authors": "Sugiyama N, Masuda T, Shinoda K, Nakamura A, Tomita M, Ishihama Y", "evidence": [ { "database": "iPTMnet", "id": "O15164-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15164-1" } ], "reference": [ { "type": "PubMed", "id": "17322306", "url": "https://glygen.org/publication/PubMed/17322306" } ] }, { "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": "UniProtKB", "id": "O15164", "url": "https://www.uniprot.org/uniprot/O15164" } ], "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": "ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage.", "journal": "Science (New York, N.Y.)", "date": "2007", "authors": "Matsuoka S, Ballif BA, Smogorzewska A, McDonald ER 3rd, Hurov KE, Luo J, Bakalarski CE, Zhao Z, Solimini N, Lerenthal Y, Shiloh Y, Gygi SP, Elledge SJ", "evidence": [ { "database": "iPTMnet", "id": "O15164-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15164-1" } ], "reference": [ { "type": "PubMed", "id": "17525332", "url": "https://glygen.org/publication/PubMed/17525332" } ] }, { "title": "Indirubin-3'-monoxime inhibits autophosphorylation of FGFR1 and stimulates ERK1/2 activity via p38 MAPK.", "journal": "Oncogene", "date": "2007", "authors": "Zhen Y, Sorensen V, Jin Y, Suo Z, Wiedlocha A", "evidence": [ { "database": "Reactome", "id": "R-HSA-1839117", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1839117" } ], "reference": [ { "type": "PubMed", "id": "17533378", "url": "https://glygen.org/publication/PubMed/17533378" } ] }, { "title": "Activity of TKI258 against primary cells and cell lines with FGFR1 fusion genes associated with the 8p11 myeloproliferative syndrome.", "journal": "Blood", "date": "2007", "authors": "Chase A, Grand FH, Cross NC", "evidence": [ { "database": "Reactome", "id": "R-HSA-1839117", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1839117" } ], "reference": [ { "type": "PubMed", "id": "17698633", "url": "https://glygen.org/publication/PubMed/17698633" } ] }, { "title": "The t(1;9)(p34;q34) and t(8;12)(p11;q15) fuse pre-mRNA processing proteins SFPQ (PSF) and CPSF6 to ABL and FGFR1.", "journal": "Genes, chromosomes & cancer", "date": "2008", "authors": "Hidalgo-Curtis C, Chase A, Drachenberg M, Roberts MW, Finkelstein JZ, Mould S, Oscier D, Cross NC, Grand FH", "evidence": [ { "database": "Reactome", "id": "R-HSA-1839117", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1839117" } ], "reference": [ { "type": "PubMed", "id": "18205209", "url": "https://glygen.org/publication/PubMed/18205209" } ] }, { "title": "Hydrophilic interaction chromatography reduces the complexity of the phosphoproteome and improves global phosphopeptide isolation and detection.", "journal": "Molecular & cellular proteomics : MCP", "date": "2008", "authors": "McNulty DE, Annan RS", "evidence": [ { "database": "iPTMnet", "id": "O15164-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15164-1" } ], "reference": [ { "type": "PubMed", "id": "18212344", "url": "https://glygen.org/publication/PubMed/18212344" } ] }, { "title": "Involvement of fibroblast growth factor receptor 2 isoform switching in mammary oncogenesis.", "journal": "Molecular cancer research : MCR", "date": "2008", "authors": "Cha JY, Lambert QT, Reuther GW, Der CJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-5655302", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5655302" } ], "reference": [ { "type": "PubMed", "id": "18337450", "url": "https://glygen.org/publication/PubMed/18337450" } ] }, { "title": "Extracellular point mutations in FGFR2 elicit unexpected changes in intracellular signalling.", "journal": "The Biochemical journal", "date": "2008", "authors": "Ahmed Z, Schuller AC, Suhling K, Tregidgo C, Ladbury JE", "evidence": [ { "database": "Reactome", "id": "R-HSA-5655302", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5655302" } ], "reference": [ { "type": "PubMed", "id": "18373495", "url": "https://glygen.org/publication/PubMed/18373495" } ] }, { "title": "FGFR2-amplified gastric cancer cell lines require FGFR2 and Erbb3 signaling for growth and survival.", "journal": "Cancer research", "date": "2008", "authors": "Kunii K, Davis L, Gorenstein J, Hatch H, Yashiro M, Di Bacco A, Elbi C, Lutterbach B", "evidence": [ { "database": "Reactome", "id": "R-HSA-5655302", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5655302" } ], "reference": [ { "type": "PubMed", "id": "18381441", "url": "https://glygen.org/publication/PubMed/18381441" } ] }, { "title": "Myeloproliferative disorder FOP-FGFR1 fusion kinase recruits phosphoinositide-3 kinase and phospholipase Cgamma at the centrosome.", "journal": "Molecular cancer", "date": "2008", "authors": "Lelievre H, Chevrier V, Tassin AM, Birnbaum D", "evidence": [ { "database": "Reactome", "id": "R-HSA-1839117", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1839117" } ], "reference": [ { "type": "PubMed", "id": "18412956", "url": "https://glygen.org/publication/PubMed/18412956" } ] }, { "title": "Motif-specific sampling of phosphoproteomes.", "journal": "Journal of proteome research", "date": "2008", "authors": "Ruse CI, McClatchy DB, Lu B, Cociorva D, Motoyama A, Park SK, Yates JR 3rd", "evidence": [ { "database": "iPTMnet", "id": "O15164-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15164-1" } ], "reference": [ { "type": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" } ] }, { "title": "Drug-sensitive FGFR2 mutations in endometrial carcinoma.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dutt A, Salvesen HB, Chen TH, Ramos AH, Onofrio RC, Hatton C, Nicoletti R, Winckler W, Grewal R, Hanna M, Wyhs N, Ziaugra L, Richter DJ, Trovik J, Engelsen IB, Stefansson IM, Fennell T, Cibulskis K, Zody MC, Akslen LA, Gabriel S, Wong KK, Sellers WR, Meyerson M, Greulich H", "evidence": [ { "database": "Reactome", "id": "R-HSA-5655302", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5655302" } ], "reference": [ { "type": "PubMed", "id": "18552176", "url": "https://glygen.org/publication/PubMed/18552176" } ] }, { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "O15164", "url": "https://www.uniprot.org/uniprot/O15164" }, { "database": "iPTMnet", "id": "O15164-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15164-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "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-5655302", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5655302" } ], "reference": [ { "type": "PubMed", "id": "18757403", "url": "https://glygen.org/publication/PubMed/18757403" } ] }, { "title": "Tandem duplication producing a novel oncogenic BRAF fusion gene defines the majority of pilocytic astrocytomas.", "journal": "Cancer research", "date": "2008", "authors": "Jones DT, Kocialkowski S, Liu L, Pearson DM, Backlund LM, Ichimura K, Collins VP", "evidence": [ { "database": "Reactome", "id": "R-HSA-6802952", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6802952" } ], "reference": [ { "type": "PubMed", "id": "18974108", "url": "https://glygen.org/publication/PubMed/18974108" } ] }, { "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-5655302", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5655302" } ], "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": "LRRFIP1, a new FGFR1 partner gene associated with 8p11 myeloproliferative syndrome.", "journal": "Leukemia", "date": "2009", "authors": "Soler G, Nusbaum S, Varet B, Macintyre EA, Vekemans M, Romana SP, Radford-Weiss I", "evidence": [ { "database": "Reactome", "id": "R-HSA-1839117", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1839117" } ], "reference": [ { "type": "PubMed", "id": "19369959", "url": "https://glygen.org/publication/PubMed/19369959" } ] }, { "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-5655302", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5655302" } ], "reference": [ { "type": "PubMed", "id": "19381019", "url": "https://glygen.org/publication/PubMed/19381019" } ] }, { "title": "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.", "journal": "Analytical chemistry", "date": "2009", "authors": "Gauci S, Helbig AO, Slijper M, Krijgsveld J, Heck AJ, Mohammed S", "evidence": [ { "database": "iPTMnet", "id": "O15164-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15164-1" } ], "reference": [ { "type": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" } ] }, { "title": "Trim24 targets endogenous p53 for degradation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2009", "authors": "Allton K, Jain AK, Herz HM, Tsai WW, Jung SY, Qin J, Bergmann A, Johnson RL, Barton MC", "evidence": [ { "database": "UniProtKB", "id": "O15164", "url": "https://www.uniprot.org/uniprot/O15164" } ], "reference": [ { "type": "PubMed", "id": "19556538", "url": "https://glygen.org/publication/PubMed/19556538" } ] }, { "title": "Global effects of kinase inhibitors on signaling networks revealed by quantitative phosphoproteomics.", "journal": "Molecular & cellular proteomics : MCP", "date": "2009", "authors": "Pan C, Olsen JV, Daub H, Mann M", "evidence": [ { "database": "iPTMnet", "id": "O15164-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15164-1" } ], "reference": [ { "type": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" } ] }, { "title": "Phosphorylation dynamics during early differentiation of human embryonic stem cells.", "journal": "Cell stem cell", "date": "2009", "authors": "Van Hoof D, Munoz J, Braam SR, Pinkse MW, Linding R, Heck AJ, Mummery CL, Krijgsveld J", "evidence": [ { "database": "iPTMnet", "id": "O15164-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15164-1" } ], "reference": [ { "type": "PubMed", "id": "19664995", "url": "https://glygen.org/publication/PubMed/19664995" } ] }, { "title": "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.", "journal": "Science signaling", "date": "2009", "authors": "Mayya V, Lundgren DH, Hwang SI, Rezaul K, Wu L, Eng JK, Rodionov V, Han DK", "evidence": [ { "database": "UniProtKB", "id": "O15164", "url": "https://www.uniprot.org/uniprot/O15164" }, { "database": "iPTMnet", "id": "O15164", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15164" } ], "reference": [ { "type": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" } ] }, { "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": "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": "De-regulated FGF receptors as therapeutic targets in cancer.", "journal": "Pharmacology & therapeutics", "date": "2010", "authors": "Knights V, Cook SJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-1839117", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1839117" } ], "reference": [ { "type": "PubMed", "id": "19874848", "url": "https://glygen.org/publication/PubMed/19874848" } ] }, { "title": "TRIM24 mediates ligand-dependent activation of androgen receptor and is repressed by a bromodomain-containing protein, BRD7, in prostate cancer cells.", "journal": "Biochim. Biophys. Acta", "date": "2009", "authors": "Kikuchi Misato, Okumura Fumihiko, Tsukiyama Tadasuke, Watanabe Masashi, Miyajima Naoto, Tanaka Junji, Imamura Masahiro, Hatakeyama Shigetsugu", "evidence": [ { "database": "UniProtKB", "id": "O15164", "url": "https://www.uniprot.org/uniprot/O15164" } ], "reference": [ { "type": "PubMed", "id": "19909775", "url": "https://glygen.org/publication/PubMed/19909775" } ] }, { "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-5655302", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5655302" } ], "reference": [ { "type": "PubMed", "id": "19946327", "url": "https://glygen.org/publication/PubMed/19946327" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "UniProtKB", "id": "O15164", "url": "https://www.uniprot.org/uniprot/O15164" }, { "database": "iPTMnet", "id": "O15164-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15164-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "title": "Fibroblast growth factor signalling: from development to cancer.", "journal": "Nature reviews. Cancer", "date": "2010", "authors": "Turner N, Grose R", "evidence": [ { "database": "Reactome", "id": "R-HSA-5655302", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5655302" } ], "reference": [ { "type": "PubMed", "id": "20094046", "url": "https://glygen.org/publication/PubMed/20094046" } ] }, { "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-5655302", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5655302" } ], "reference": [ { "type": "PubMed", "id": "20179196", "url": "https://glygen.org/publication/PubMed/20179196" } ] }, { "title": "8p11 myeloproliferative syndrome: a review.", "journal": "Human pathology", "date": "2010", "authors": "Jackson CC, Medeiros LJ, Miranda RN", "evidence": [ { "database": "Reactome", "id": "R-HSA-1839117", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1839117" } ], "reference": [ { "type": "PubMed", "id": "20226962", "url": "https://glygen.org/publication/PubMed/20226962" } ] }, { "title": "Rearrangements of the RAF kinase pathway in prostate cancer, gastric cancer and melanoma.", "journal": "Nature medicine", "date": "2010", "authors": "Palanisamy N, Ateeq B, Kalyana-Sundaram S, Pflueger D, Ramnarayanan K, Shankar S, Han B, Cao Q, Cao X, Suleman K, Kumar-Sinha C, Dhanasekaran SM, Chen YB, Esgueva R, Banerjee S, LaFargue CJ, Siddiqui J, Demichelis F, Moeller P, Bismar TA, Kuefer R, Fullen DR, Johnson TM, Greenson JK, Giordano TJ, Tan P, Tomlins SA, Varambally S, Rubin MA, Maher CA, Chinnaiyan AM", "evidence": [ { "database": "Reactome", "id": "R-HSA-6802952", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6802952" } ], "reference": [ { "type": "PubMed", "id": "20526349", "url": "https://glygen.org/publication/PubMed/20526349" } ] }, { "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-5655302", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5655302" } ], "reference": [ { "type": "PubMed", "id": "20709759", "url": "https://glygen.org/publication/PubMed/20709759" } ] }, { "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-5655302", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5655302" } ], "reference": [ { "type": "PubMed", "id": "21160078", "url": "https://glygen.org/publication/PubMed/21160078" } ] }, { "title": "TRIM24 links a non-canonical histone signature to breast cancer.", "journal": "Nature", "date": "2010", "authors": "Tsai WW, Wang Z, Yiu TT, Akdemir KC, Xia W, Winter S, Tsai CY, Shi X, Schwarzer D, Plunkett W, Aronow B, Gozani O, Fischle W, Hung MC, Patel DJ, Barton MC", "evidence": [ { "database": "UniProtKB", "id": "O15164", "url": "https://www.uniprot.org/uniprot/O15164" } ], "reference": [ { "type": "PubMed", "id": "21164480", "url": "https://glygen.org/publication/PubMed/21164480" } ] }, { "title": "The kinase inhibitor TKI258 is active against the novel CUX1-FGFR1 fusion detected in a patient with T-lymphoblastic leukemia/lymphoma and t(7;8)(q22;p11).", "journal": "Haematologica", "date": "2011", "authors": "Wasag B, Lierman E, Meeus P, Cools J, Vandenberghe P", "evidence": [ { "database": "Reactome", "id": "R-HSA-1839117", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1839117" } ], "reference": [ { "type": "PubMed", "id": "21330321", "url": "https://glygen.org/publication/PubMed/21330321" } ] }, { "title": "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.", "journal": "Science signaling", "date": "2011", "authors": "Rigbolt KT, Prokhorova TA, Akimov V, Henningsen J, Johansen PT, Kratchmarova I, Kassem M, Mann M, Olsen JV, Blagoev B", "evidence": [ { "database": "UniProtKB", "id": "O15164", "url": "https://www.uniprot.org/uniprot/O15164" }, { "database": "iPTMnet", "id": "O15164", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15164" } ], "reference": [ { "type": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" } ] }, { "title": "Oncogenic FAM131B-BRAF fusion resulting from 7q34 deletion comprises an alternative mechanism of MAPK pathway activation in pilocytic astrocytoma.", "journal": "Acta neuropathologica", "date": "2011", "authors": "Cin H, Meyer C, Herr R, Janzarik WG, Lambert S, Jones DT, Jacob K, Benner A, Witt H, Remke M, Bender S, Falkenstein F, Van Anh TN, Olbrich H, von Deimling A, Pekrun A, Kulozik AE, Gnekow A, Scheurlen W, Witt O, Omran H, Jabado N, Collins VP, Brummer T, Marschalek R, Lichter P, Korshunov A, Pfister SM", "evidence": [ { "database": "Reactome", "id": "R-HSA-6802952", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6802952" } ], "reference": [ { "type": "PubMed", "id": "21424530", "url": "https://glygen.org/publication/PubMed/21424530" } ] }, { "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-5655302", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5655302" } ], "reference": [ { "type": "PubMed", "id": "21666749", "url": "https://glygen.org/publication/PubMed/21666749" } ] }, { "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-5655302", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5655302" } ], "reference": [ { "type": "PubMed", "id": "21711248", "url": "https://glygen.org/publication/PubMed/21711248" } ] }, { "title": "TRIM16 acts as an E3 ubiquitin ligase and can heterodimerize with other TRIM family members.", "journal": "PLoS ONE", "date": "2012", "authors": "Bell JL, Malyukova A, Holien JK, Koach J, Parker MW, Kavallaris M, Marshall GM, Cheung BB", "evidence": [ { "database": "UniProtKB", "id": "O15164", "url": "https://www.uniprot.org/uniprot/O15164" } ], "reference": [ { "type": "PubMed", "id": "22629402", "url": "https://glygen.org/publication/PubMed/22629402" } ] }, { "title": "A novel SND1-BRAF fusion confers resistance to c-Met inhibitor PF-04217903 in GTL16 cells through [corrected] MAPK activation.", "journal": "PloS one", "date": "2012", "authors": "Lee NV, Lira ME, Pavlicek A, Ye J, Buckman D, Bagrodia S, Srinivasa SP, Zhao Y, Aparicio S, Rejto PA, Christensen JG, Ching KA", "evidence": [ { "database": "Reactome", "id": "R-HSA-6802952", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6802952" } ], "reference": [ { "type": "PubMed", "id": "22745804", "url": "https://glygen.org/publication/PubMed/22745804" } ] }, { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "O15164", "url": "https://www.uniprot.org/uniprot/O15164" }, { "database": "iPTMnet", "id": "O15164", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15164" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "Whole-genome sequencing identifies genetic alterations in pediatric low-grade gliomas.", "journal": "Nature genetics", "date": "2013", "authors": "Zhang J, Wu G, Miller CP, Tatevossian RG, Dalton JD, Tang B, Orisme W, Punchihewa C, Parker M, Qaddoumi I, Boop FA, Lu C, Kandoth C, Ding L, Lee R, Huether R, Chen X, Hedlund E, Nagahawatte P, Rusch M, Boggs K, Cheng J, Becksfort J, Ma J, Song G, Li Y, Wei L, Wang J, Shurtleff S, Easton J, Zhao D, Fulton RS, Fulton LL, Dooling DJ, Vadodaria B, Mulder HL, Tang C, Ochoa K, Mullighan CG, Gajjar A, Kriwacki R, Sheer D, Gilbertson RJ, Mardis ER, Wilson RK, Downing JR, Baker SJ, Ellison DW", "evidence": [ { "database": "Reactome", "id": "R-HSA-6802952", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6802952" } ], "reference": [ { "type": "PubMed", "id": "23583981", "url": "https://glygen.org/publication/PubMed/23583981" } ] }, { "title": "Identification of kinase fusion oncogenes in post-Chernobyl radiation-induced thyroid cancers.", "journal": "The Journal of clinical investigation", "date": "2013", "authors": "Ricarte-Filho JC, Li S, Garcia-Rendueles ME, Montero-Conde C, Voza F, Knauf JA, Heguy A, Viale A, Bogdanova T, Thomas GA, Mason CE, Fagin JA", "evidence": [ { "database": "Reactome", "id": "R-HSA-6802952", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6802952" } ], "reference": [ { "type": "PubMed", "id": "24135138", "url": "https://glygen.org/publication/PubMed/24135138" } ] }, { "title": "BRAF fusions define a distinct molecular subset of melanomas with potential sensitivity to MEK inhibition.", "journal": "Clinical cancer research : an official journal of the American Association for Cancer Research", "date": "2013", "authors": "Hutchinson KE, Lipson D, Stephens PJ, Otto G, Lehmann BD, Lyle PL, Vnencak-Jones CL, Ross JS, Pietenpol JA, Sosman JA, Puzanov I, Miller VA, Pao W", "evidence": [ { "database": "Reactome", "id": "R-HSA-6802952", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6802952" } ], "reference": [ { "type": "PubMed", "id": "24345920", "url": "https://glygen.org/publication/PubMed/24345920" } ] }, { "title": "TRIM24 is a p53-induced E3-ubiquitin ligase that undergoes ATM-mediated phosphorylation and autodegradation during DNA damage.", "journal": "Molecular and cellular biology", "date": "2014", "authors": "Jain AK, Allton K, Duncan AD, Barton MC", "evidence": [ { "database": "UniProtKB", "id": "O15164", "url": "https://www.uniprot.org/uniprot/O15164" }, { "database": "iPTMnet", "id": "O15164", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15164" } ], "reference": [ { "type": "PubMed", "id": "24820418", "url": "https://glygen.org/publication/PubMed/24820418" } ] }, { "title": "Mapping of SUMO sites and analysis of SUMOylation changes induced by external stimuli.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "2014", "authors": "Impens F, Radoshevich L, Cossart P, Ribet D", "evidence": [ { "database": "UniProtKB", "id": "O15164", "url": "https://www.uniprot.org/uniprot/O15164" } ], "reference": [ { "type": "PubMed", "id": "25114211", "url": "https://glygen.org/publication/PubMed/25114211" } ] }, { "title": "The landscape of kinase fusions in cancer.", "journal": "Nature communications", "date": "2014", "authors": "Stransky N, Cerami E, Schalm S, Kim JL, Lengauer C", "evidence": [ { "database": "Reactome", "id": "R-HSA-6802952", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6802952" } ], "reference": [ { "type": "PubMed", "id": "25204415", "url": "https://glygen.org/publication/PubMed/25204415" } ] }, { "title": "Uncovering global SUMOylation signaling networks in a site-specific manner.", "journal": "Nat. Struct. Mol. Biol.", "date": "2014", "authors": "Hendriks IA, D'Souza RC, Yang B, Verlaan-de Vries M, Mann M, Vertegaal AC", "evidence": [ { "database": "UniProtKB", "id": "O15164", "url": "https://www.uniprot.org/uniprot/O15164" } ], "reference": [ { "type": "PubMed", "id": "25218447", "url": "https://glygen.org/publication/PubMed/25218447" } ] }, { "title": "Screen identifies bromodomain protein ZMYND8 in chromatin recognition of transcription-associated DNA damage that promotes homologous recombination.", "journal": "Genes Dev.", "date": "2015", "authors": "Gong Fade, Chiu Li-Ya, Cox Ben, Aymard Fran\u00e7ois, Clouaire Thomas, Leung Justin W, Cammarata Michael, Perez Mercedes, Agarwal Poonam, Brodbelt Jennifer S, Legube Ga\u00eblle, Miller Kyle M", "evidence": [ { "database": "UniProtKB", "id": "O15164", "url": "https://www.uniprot.org/uniprot/O15164" } ], "reference": [ { "type": "PubMed", "id": "25593309", "url": "https://glygen.org/publication/PubMed/25593309" } ] }, { "title": "System-wide analysis of SUMOylation dynamics in response to replication stress reveals novel small ubiquitin-like modified target proteins and acceptor lysines relevant for genome stability.", "journal": "Mol. Cell. Proteomics", "date": "2015", "authors": "Xiao Zhenyu, Chang Jer-Gung, Hendriks Ivo A, Sigur\u00f0sson J\u00f3n Otti, Olsen Jesper V, Vertegaal Alfred C O", "evidence": [ { "database": "UniProtKB", "id": "O15164", "url": "https://www.uniprot.org/uniprot/O15164" } ], "reference": [ { "type": "PubMed", "id": "25755297", "url": "https://glygen.org/publication/PubMed/25755297" } ] }, { "title": "SUMO-2 orchestrates chromatin modifiers in response to DNA damage.", "journal": "Cell Rep.", "date": "2015", "authors": "Hendriks Ivo A, Treffers Louise W, Verlaan-de Vries Matty, Olsen Jesper V, Vertegaal Alfred C O", "evidence": [ { "database": "UniProtKB", "id": "O15164", "url": "https://www.uniprot.org/uniprot/O15164" } ], "reference": [ { "type": "PubMed", "id": "25772364", "url": "https://glygen.org/publication/PubMed/25772364" } ] }, { "title": "Regulation of RAF protein kinases in ERK signalling.", "journal": "Nature reviews. Molecular cell biology", "date": "2015", "authors": "Lavoie H, Therrien M", "evidence": [ { "database": "Reactome", "id": "R-HSA-6802952", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6802952" } ], "reference": [ { "type": "PubMed", "id": "25907612", "url": "https://glygen.org/publication/PubMed/25907612" } ] }, { "title": "An Isotope-Coded Photocleavable Probe for Quantitative Profiling of Protein O-GlcNAcylation.", "journal": "ACS chemical biology", "date": "2019", "authors": "Li J, Li Z, Duan X, Qin K, Dang L, Sun S, Cai L, Hsieh-Wilson LC, Wu L, Yi W", "evidence": [ { "database": "O-GlcNAc Database", "id": "O15164", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O15164" }, { "database": "O-GlcNAc Atlas", "id": "O15164", "url": "https://oglcnac.org/atlas/detail/O15164" } ], "reference": [ { "type": "PubMed", "id": "30620550", "url": "https://glygen.org/publication/PubMed/30620550" } ] }, { "title": "Engineering a Proximity-Directed O-GlcNAc Transferase for Selective Protein O-GlcNAcylation in Cells.", "journal": "ACS chemical biology", "date": "2020", "authors": "Ramirez DH, Aonbangkhen C, Wu HY, Naftaly JA, Tang S, O'Meara TR, Woo CM", "evidence": [ { "database": "O-GlcNAc Database", "id": "O15164", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O15164" } ], "reference": [ { "type": "PubMed", "id": "32119511", "url": "https://glygen.org/publication/PubMed/32119511" } ] }, { "title": "TRIM24 facilitates antiviral immunity through mediating K63-linked TRAF3 ubiquitination.", "journal": "The Journal of experimental medicine", "date": "2020", "authors": "Zhu Q, Yu T, Gan S, Wang Y, Pei Y, Zhao Q, Pei S, Hao S, Yuan J, Xu J, Hou F, Wu X, Peng C, Wu P, Qin J, Xiao Y", "evidence": [ { "database": "UniProtKB", "id": "O15164", "url": "https://www.uniprot.org/uniprot/O15164" } ], "reference": [ { "type": "PubMed", "id": "32324863", "url": "https://glygen.org/publication/PubMed/32324863" } ] }, { "title": "Methods for Enrichment and Assignment of N-Acetylglucosamine Modification Sites.", "journal": "Molecular & cellular proteomics : MCP", "date": "2021", "authors": "Maynard JC, Chalkley RJ", "evidence": [ { "database": "O-GlcNAc Atlas", "id": "O15164", "url": "https://oglcnac.org/atlas/detail/O15164" } ], "reference": [ { "type": "PubMed", "id": "32938750", "url": "https://glygen.org/publication/PubMed/32938750" } ] }, { "title": "Proteomic profiling and genome-wide mapping of O-GlcNAc chromatin-associated proteins reveal an O-GlcNAc-regulated genotoxic stress response.", "journal": "Nature communications", "date": "2020", "authors": "Liu Y, Chen Q, Zhang N, Zhang K, Dou T, Cao Y, Liu Y, Li K, Hao X, Xie X, Li W, Ren Y, Zhang J", "evidence": [ { "database": "O-GlcNAc Database", "id": "O15164", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O15164" } ], "reference": [ { "type": "PubMed", "id": "33214551", "url": "https://glygen.org/publication/PubMed/33214551" } ] }, { "title": "E3 ubiquitin ligase TRIM24 deficiency promotes NLRP3/caspase-1/IL-1beta-mediated pyroptosis in endometriosis.", "journal": "Cell biology international", "date": "2021", "authors": "Hang Y, Tan L, Chen Q, Liu Q, Jin Y", "evidence": [ { "database": "UniProtKB", "id": "O15164", "url": "https://www.uniprot.org/uniprot/O15164" } ], "reference": [ { "type": "PubMed", "id": "33724611", "url": "https://glygen.org/publication/PubMed/33724611" } ] }, { "title": "O-GlcNAc modification regulates MTA1 transcriptional activity during breast cancer cell genotoxic adaptation.", "journal": "Biochimica et biophysica acta. General subjects", "date": "2021", "authors": "Xie X, Wu Q, Zhang K, Liu Y, Zhang N, Chen Q, Wang L, Li W, Zhang J, Liu Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "O15164", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O15164" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "Simultaneously Identifying and Distinguishing Glycoproteins with O-GlcNAc and O-GalNAc (the Tn Antigen) in Human Cancer Cells.", "journal": "Analytical chemistry", "date": "2022", "authors": "Xu S, Zheng J, Xiao H, Wu R", "evidence": [ { "database": "O-GlcNAc Database", "id": "O15164", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O15164" } ], "reference": [ { "type": "PubMed", "id": "35132862", "url": "https://glygen.org/publication/PubMed/35132862" } ] }, { "title": "STAT1 is regulated by TRIM24 and promotes immunosuppression in head and neck squamous carcinoma cells, but enhances T cell antitumour immunity in the tumour microenvironment.", "journal": "British journal of cancer", "date": "2022", "authors": "Anderson K, Ryan N, Nedungadi D, Lamenza F, Swingler M, Siddiqui A, Satoskar A, Upadhaya P, Pietrzak M, Oghumu S", "evidence": [ { "database": "RefSeq", "id": "NP_003843", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003843" } ], "reference": [ { "type": "PubMed", "id": "35595823", "url": "https://glygen.org/publication/PubMed/35595823" } ] }, { "title": "miR-339-3p inhibits cell growth and epithelial-mesenchymal transition in nasopharyngeal carcinoma by modulating the KAT6A/TRIM24 axis.", "journal": "International journal of clinical oncology", "date": "2022-11", "authors": "Gao Pei, Zhao Kun, Lu Wuhao, Wang Liang, Zhang Peng", "evidence": [ { "database": "RefSeq", "id": "NP_003843", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003843" } ], "reference": [ { "type": "PubMed", "id": "35976474", "url": "https://glygen.org/publication/PubMed/35976474" } ] }, { "title": "TRIM24 is critical for the cellular response to DNA double-strand breaks through regulating the recruitment of MRN complex.", "journal": "Oncogene", "date": "2022-12-22", "authors": "Wang Ya, Yao Yuanbing, Wei Qunhui, Long Shichao, Chen Yuqiao, Xie Jinru, Tan Rong, Jiang Wei, Zhang Qian, Wu Dongbo, Xiao Shuai, Wan Fengyi, Fu Kai", "evidence": [ { "database": "RefSeq", "id": "NP_003843", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003843" } ], "reference": [ { "type": "PubMed", "id": "36550358", "url": "https://glygen.org/publication/PubMed/36550358" } ] }, { "title": "TRIM24 controls induction of latent HIV-1 by stimulating transcriptional elongation.", "journal": "Communications biology", "date": "2023-01-23", "authors": "Horvath Riley M, Dahabieh Matthew, Malcolm Tom, Sadowski Ivan", "evidence": [ { "database": "RefSeq", "id": "NP_003843", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003843" } ], "reference": [ { "type": "PubMed", "id": "36690785", "url": "https://glygen.org/publication/PubMed/36690785" } ] }, { "title": "Novel insights into the recognition of acetylated histone H4 tail by the TRIM24 PHD-Bromo module.", "journal": "The Biochemical journal", "date": "2023-04-19", "authors": "Sudhamalla Babu, Bardhan Ishita, Barman Soumen, Roy Anirban", "evidence": [ { "database": "RefSeq", "id": "NP_003843", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003843" } ], "reference": [ { "type": "PubMed", "id": "37075063", "url": "https://glygen.org/publication/PubMed/37075063" } ] }, { "title": "Differential interaction of nuclear receptors with the putative human transcriptional coactivator hTIF1.", "journal": "J. Biol. Chem.", "date": "1997", "authors": "Th\u00e9not S, Henriquet C, Rochefort H, Cavaill\u00e8s V", "evidence": [ { "database": "UniProtKB", "id": "O15164", "url": "https://www.uniprot.org/uniprot/O15164" } ], "reference": [ { "type": "PubMed", "id": "9115274", "url": "https://glygen.org/publication/PubMed/9115274" } ] }, { "title": "FGFR1 is fused with a novel zinc-finger gene, ZNF198, in the t(8;13) leukaemia/lymphoma syndrome.", "journal": "Nature genetics", "date": "1998", "authors": "Xiao S, Nalabolu SR, Aster JC, Ma J, Abruzzo L, Jaffe ES, Stone R, Weissman SM, Hudson TJ, Fletcher JA", "evidence": [ { "database": "Reactome", "id": "R-HSA-1839117", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1839117" } ], "reference": [ { "type": "PubMed", "id": "9425908", "url": "https://glygen.org/publication/PubMed/9425908" } ] }, { "title": "Fibroblast growth factor receptor 1 is fused to FIM in stem-cell myeloproliferative disorder with t(8;13).", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1998", "authors": "Popovici C, Adelaide J, Ollendorff V, Chaffanet M, Guasch G, Jacrot M, Leroux D, Birnbaum D, Pebusque MJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-1839117", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1839117" } ], "reference": [ { "type": "PubMed", "id": "9576949", "url": "https://glygen.org/publication/PubMed/9576949" } ] }, { "title": "Consistent fusion of ZNF198 to the fibroblast growth factor receptor-1 in the t(8;13)(p11;q12) myeloproliferative syndrome.", "journal": "Blood", "date": "1998", "authors": "Reiter A, Sohal J, Kulkarni S, Chase A, Macdonald DH, Aguiar RC, Goncalves C, Hernandez JM, Jennings BA, Goldman JM, Cross NC", "evidence": [ { "database": "Reactome", "id": "R-HSA-1839117", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1839117" } ], "reference": [ { "type": "PubMed", "id": "9716603", "url": "https://glygen.org/publication/PubMed/9716603" } ] }, { "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-5655302", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5655302" } ], "reference": [ { "type": "PubMed", "id": "9857065", "url": "https://glygen.org/publication/PubMed/9857065" } ] }, { "title": "The t(6;8)(q27;p11) translocation in a stem cell myeloproliferative disorder fuses a novel gene, FOP, to fibroblast growth factor receptor 1.", "journal": "Blood", "date": "1999", "authors": "Popovici C, Zhang B, Gregoire MJ, Jonveaux P, Lafage-Pochitaloff M, Birnbaum D, Pebusque MJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-1839117", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1839117" } ], "reference": [ { "type": "PubMed", "id": "9949182", "url": "https://glygen.org/publication/PubMed/9949182" } ] } ], "pathway": [ { "id": "hsa:8805", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:8805", "resource": "KEGG Pathway" }, { "id": "R-HSA-1839117", "name": "Signaling by cytosolic FGFR1 fusion mutants", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1839117", "resource": "Reactome", "description": "Signaling by cytosolic FGFR1 fusion mutants" }, { "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-6802952", "name": "Signaling by BRAF and RAF1 fusions", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6802952", "resource": "Reactome", "description": "Signaling by BRAF and RAF1 fusions" } ], "orthologs": [ { "uniprot_canonical_ac": "Q64127-1", "protein_name": "Transcription intermediary factor 1-alpha", "gene_name": "Trim24", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MEVAVEKAAAAAAPAGGPAAAAPSGENEAESRQGPDSESGGEASRLNLLDTCAVCHQNIQSRVPKLLPCLHSFCQRCLPAPQRYLMLTAPALGSAETPPPAPAPAPAPGSPAGGPSPFATQVGVIRCPVCSQECAERHIIDNFFVKDTTEVPSSTVEKSNQVCTSCEDNAEANGFCVECVEWLCKTCIRAHQRVKFTKDHTVRQKEEVSPEAVGVTSQRPVFCPFHKKEQLKLYCETCDKLTCRDCQLLEHKEHRYQFIEEAFQNQKVIIDTLITKLMEKTKYIKYTGNQIQNRIIEINQNQKQVEQDIKVAIFTLMVEINKKGKALLHQLESLAKDHRMKLMQQQQEVAGLSKQLEHVMHFSKWAVSSGSSTALLYSKRLITYRLRHLLRARCDASPVTNTTIQFHCDPSFWAQNIINLGSLVIEDKESQPQMPKQNPVVEQSSQPPGGLPSNQLSKFPTQISLAQLRLQHIQQQVMAQRQQVQRRPAPVGLPNPRMQGPIQQPSISHQHPPPRLINFQNHSPKPNGPVLPPYPQQLRYSPSQNVPRQTTIKPNPLQMAFLAQQAIKQWQISSVQAPPTTASSSSSTPSSPTITSAAGYDGKAFSSPMIDLSAPVGGSYNLPSLPDIDCSSTIMLDNIARKDTGVDHAQPRPPSNRTVQSPNSSVPSPGLAGPVTMTSVHPPIRSPSASSVGSRGSSGSSSKPAGADSTHKVPVVMLEPIRIKQENSGPPENYDFPVVIVKQESDEESRPQNTNYPRSILTSLLLNSSQSSASEETVLRSDAPDSTGDQPGLHQENSSNGKSEWSDASQKSPVHVGETRKEDDPNEDWCAVCQNGGELLCCEKCPKVFHLTCHVPTLTNFPSGEWICTFCRDLSKPEVDYDCDVPSHHSEKRKSEGLTKLTPIDKRKCERLLLFLYCHEMSLAFQDPVPLTVPDYYKIIKNPMDLSTIKKRLQEDYCMYTKPEDFVADFRLIFQNCAEFNEPDSEVANAGIKLESYFEELLKNLYPEKRFPKVEFRHEAEDCKFSDDSDDDFVQPRKKRLKSTEDRQLLK", "length": 1051 }, "evidence": [ { "id": "45929275", "url": "http://www.informatics.jax.org/homology/45929275", "database": "MGI" }, { "id": "O15164", "url": "https://omabrowser.org/oma/group/O15164/", "database": "OMA" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 7, "go_terms": [ { "name": "perichromatin fibrils", "id": "GO:0005726", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005726", "evidence": [ { "database": "UniProtKB", "id": "O15164", "url": "https://www.uniprot.org/uniprot/O15164" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "O15164", "url": "https://www.uniprot.org/uniprot/O15164" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "O15164", "url": "https://www.uniprot.org/uniprot/O15164" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "O15164", "url": "https://www.uniprot.org/uniprot/O15164" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "O15164", "url": "https://www.uniprot.org/uniprot/O15164" } ], "pmid": "" }, { "name": "male germ cell nucleus", "id": "GO:0001673", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001673", "evidence": [ { "database": "UniProtKB", "id": "O15164", "url": "https://www.uniprot.org/uniprot/O15164" } ], "pmid": "" }, { "name": "euchromatin", "id": "GO:0000791", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000791", "evidence": [ { "database": "UniProtKB", "id": "O15164", "url": "https://www.uniprot.org/uniprot/O15164" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 10, "go_terms": [ { "name": "estrogen response element binding", "id": "GO:0034056", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034056", "evidence": [ { "database": "UniProtKB", "id": "O15164", "url": "https://www.uniprot.org/uniprot/O15164" } ], "pmid": "" }, { "name": "chromatin binding", "id": "GO:0003682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003682", "evidence": [ { "database": "UniProtKB", "id": "O15164", "url": "https://www.uniprot.org/uniprot/O15164" } ], "pmid": "" }, { "name": "transcription coactivator activity", "id": "GO:0003713", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003713", "evidence": [ { "database": "UniProtKB", "id": "O15164", "url": "https://www.uniprot.org/uniprot/O15164" } ], "pmid": "" }, { "name": "protein kinase activity", "id": "GO:0004672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004672", "evidence": [ { "database": "UniProtKB", "id": "O15164", "url": "https://www.uniprot.org/uniprot/O15164" } ], "pmid": "" }, { "name": "signaling receptor binding", "id": "GO:0005102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005102", "evidence": [ { "database": "UniProtKB", "id": "O15164", "url": "https://www.uniprot.org/uniprot/O15164" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "O15164", "url": "https://www.uniprot.org/uniprot/O15164" } ], "pmid": "" }, { "name": "ubiquitin protein ligase activity", "id": "GO:0061630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061630", "evidence": [ { "database": "UniProtKB", "id": "O15164", "url": "https://www.uniprot.org/uniprot/O15164" } ], "pmid": "" }, { "name": "lysine-acetylated histone binding", "id": "GO:0070577", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070577", "evidence": [ { "database": "UniProtKB", "id": "O15164", "url": "https://www.uniprot.org/uniprot/O15164" } ], "pmid": "" }, { "name": "p53 binding", "id": "GO:0002039", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002039", "evidence": [ { "database": "UniProtKB", "id": "O15164", "url": "https://www.uniprot.org/uniprot/O15164" } ], "pmid": "" }, { "name": "nuclear receptor binding", "id": "GO:0016922", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016922", "evidence": [ { "database": "UniProtKB", "id": "O15164", "url": "https://www.uniprot.org/uniprot/O15164" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 14, "go_terms": [ { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "O15164", "url": "https://www.uniprot.org/uniprot/O15164" } ], "pmid": "" }, { "name": "negative regulation of DNA-templated transcription", "id": "GO:0045892", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045892", "evidence": [ { "database": "UniProtKB", "id": "O15164", "url": "https://www.uniprot.org/uniprot/O15164" } ], "pmid": "" }, { "name": "negative regulation of epithelial cell proliferation", "id": "GO:0050680", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050680", "evidence": [ { "database": "UniProtKB", "id": "O15164", "url": "https://www.uniprot.org/uniprot/O15164" } ], "pmid": "" }, { "name": "regulation of signal transduction by p53 class mediator", "id": "GO:1901796", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901796", "evidence": [ { "database": "UniProtKB", "id": "O15164", "url": "https://www.uniprot.org/uniprot/O15164" } ], "pmid": "" }, { "name": "regulation of protein stability", "id": "GO:0031647", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031647", "evidence": [ { "database": "UniProtKB", "id": "O15164", "url": "https://www.uniprot.org/uniprot/O15164" } ], "pmid": "" }, { "name": "protein ubiquitination", "id": "GO:0016567", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016567", "evidence": [ { "database": "UniProtKB", "id": "O15164", "url": "https://www.uniprot.org/uniprot/O15164" } ], "pmid": "" }, { "name": "transcription by RNA polymerase II", "id": "GO:0006366", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006366", "evidence": [ { "database": "UniProtKB", "id": "O15164", "url": "https://www.uniprot.org/uniprot/O15164" } ], "pmid": "" }, { "name": "regulation of apoptotic process", "id": "GO:0042981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042981", "evidence": [ { "database": "UniProtKB", "id": "O15164", "url": "https://www.uniprot.org/uniprot/O15164" } ], "pmid": "" }, { "name": "response to peptide hormone", "id": "GO:0043434", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043434", "evidence": [ { "database": "UniProtKB", "id": "O15164", "url": "https://www.uniprot.org/uniprot/O15164" } ], "pmid": "" }, { "name": "protein catabolic process", "id": "GO:0030163", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030163", "evidence": [ { "database": "UniProtKB", "id": "O15164", "url": "https://www.uniprot.org/uniprot/O15164" } ], "pmid": "" }, { "name": "calcium ion homeostasis", "id": "GO:0055074", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055074", "evidence": [ { "database": "UniProtKB", "id": "O15164", "url": "https://www.uniprot.org/uniprot/O15164" } ], "pmid": "" }, { "name": "cellular response to estrogen stimulus", "id": "GO:0071391", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071391", "evidence": [ { "database": "UniProtKB", "id": "O15164", "url": "https://www.uniprot.org/uniprot/O15164" } ], "pmid": "" }, { "name": "epithelial cell proliferation", "id": "GO:0050673", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050673", "evidence": [ { "database": "UniProtKB", "id": "O15164", "url": "https://www.uniprot.org/uniprot/O15164" } ], "pmid": "" }, { "name": "regulation of vitamin D receptor signaling pathway", "id": "GO:0070562", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070562", "evidence": [ { "database": "UniProtKB", "id": "O15164", "url": "https://www.uniprot.org/uniprot/O15164" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 1017, "end_pos": 1019, "annotation": "n_glycosylation_sequon" }, { "start_pos": 401, "end_pos": 403, "annotation": "n_glycosylation_sequon" }, { "start_pos": 521, "end_pos": 523, "annotation": "n_glycosylation_sequon" }, { "start_pos": 582, "end_pos": 584, "annotation": "n_glycosylation_sequon" }, { "start_pos": 655, "end_pos": 657, "annotation": "n_glycosylation_sequon" }, { "start_pos": 662, "end_pos": 664, "annotation": "n_glycosylation_sequon" }, { "start_pos": 766, "end_pos": 768, "annotation": "n_glycosylation_sequon" }, { "start_pos": 796, "end_pos": 798, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [ { "annotation": "Phosphorylated at Ser-768 by ATM kinase induces ubiquitination and degradation during DNA damage.", "evidence": [ { "database": "UniProtKB", "id": "O15164", "url": "https://www.uniprot.org/uniprot/O15164" }, { "database": "PubMed", "id": "24820418", "url": "https://glygen.org/publication/PubMed/24820418" } ] }, { "annotation": "Undergoes ubiquitination-mediated degradation in response to DNA damage.", "evidence": [ { "database": "UniProtKB", "id": "O15164", "url": "https://www.uniprot.org/uniprot/O15164" }, { "database": "PubMed", "id": "24820418", "url": "https://glygen.org/publication/PubMed/24820418" } ] } ], "interactions": [], "reactions": [ { "id": "R-HSA-1839031", "name": "Dimerization of cytosolic FGFR1 fusion proteins", "equation": "", "summary": "8p11 myeloproliferative syndrome (EMS) is a myeloproliferative disorder that rapidly progresses to acute myeloid leukemia if not treated (reviewed in Jackson, 2010, Knights and Cook, 2010). A characteristic feature of EMS is the presence of fusion proteins that contain the kinase domain of FGFR1 and the oligomerization domain of an unrelated protein. This is believed to promote the ligand independent dimerization and activation of the kinase domain. To date, there are 11 identified partners that form fusion proteins with FGFR1 in EMS: ZMYM2 (Xiao, 1998; Popovici, 1998; Reiter, 1998; Ollendorff, 1999; Xiao, 2000), FGFR1OP1 (Popovici, 1999), CNTRL (Guasch, 2000), BCR (Demiroglu, 2001), FGFR1OP2 (Grand, 2004), TRIM24 (Belloni, 2005), CUX1 (Wasag, 2011), MYO18A (Walz, 2005), CPSF6 (Hidalgo-Curtis, 2008), HERV-K (Guasch, 2003) and LRRFIP1 (Soler, 2009).", "cellular_location": "cytosol", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O15164-1", "P11274-1" ], "evidence": [ { "id": "R-HSA-1839031", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1839031" } ] }, { "id": "R-HSA-1839039", "name": "Tyrosine kinase inhibitors bind and inhibit cytosolic FGFR1 fusion dimer phosphorylation", "equation": "", "summary": "In a murine mouse model of ZNF198-FGFR1-induced EMS, treatment with the FGFR-inhibitor Midostaurin (PKC412) resulted in prolonged survival (Chen, 2004). Similarly, growth of ZNF-198-FGFR1-, FGFR1OP2-FGFR1-, and BCR-FGFR1-expressing lines is blocked by treatment with FGFR-inhibitors (Demiroglu, 2001; Gu, 2006; Chase, 2007; Zhen, 2007; Wasag, 2011).", "cellular_location": "cytosol", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O15164-1", "P11274-1" ], "evidence": [ { "id": "R-HSA-1839039", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1839039" } ] }, { "id": "R-HSA-1839065", "name": "Phosphorylation of cytosolic FGFR1 fusion dimers", "equation": "", "summary": "After ligand-independent dimerization, FGFR1 fusions are trans-autophosphorylated on tyrosine residues (see for instance Popovici, 1998; Ollendorff, 1999; Guasch, 2000). Although the sites of tyrosine phosphorylation have not been mapped in the context of the fusion proteins, at least some of the same residues appear to be phosphorylated as in full length FGFR1. For instance, phospho-specific antibodies have demonstrated that TRIM24 is phosphorylated on Y653 and Y654, the activation loop tyrosines of FGFR1 (Belloni, 2005). Likewise, FGFR1 fusions with ZMYM2, BCR, FGFR1OP and TRIM24 all result in recruitment and phosphorylation of PLCgamma, and where mutational studies have been performed, mutation of the PLCgamma binding site Y766 has been shown to abrogate this signaling (Roumiantsev, 2004, Lelievre, 2008, Chase, 2007). In the case of BCR-FGFR1, the BCR moiety of the fusion protein has also been shown to be phosphorylated on at least one tyrosine residue, Y177, which results in the recruitment of GRB2 (Roumiantsev, 2004).", "cellular_location": "cytosol", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O15164-1", "P11274-1" ], "evidence": [ { "id": "R-HSA-1839065", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1839065" } ] }, { "id": "R-HSA-1839078", "name": "Cytosolic FGFR1 fusion proteins bind PIK3R1", "equation": "", "summary": "Activation of the PI3K signaling pathway has been demonstrated for a number of FGFR1 fusion proteins and inhibitors of this pathway impair the proliferative and survival function of the fusions (Guasch, 2001; Demiroglu, 2001; Chen, 2004; Lelievre, 2008). FGFR1 fusions lack the FRS2-binding site of the full length protein, so the mechanism of PI3K recruitment is unclear. Unlike BCR-FGFR1, which has been shown to recruit GRB2 through the BCR Y177 site, GRB2 did not co-precipitate with the ZMYM2-FGFR1 fusion (Roumianetsev, 2004). In the case of FOP-FGFR1, Y730 has been shown to be required for the recruitment of the p85 subunit of PI3K; however, CEP110-FGFR1, which contains Y730 in the context of the same pYXXM motif, was not shown to recruit p85 at the centrosome (Guasch, 2001).", "cellular_location": "cytosol", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O15164-1", "P11274-1" ], "evidence": [ { "id": "R-HSA-1839078", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1839078" } ] }, { "id": "R-HSA-1839080", "name": "Activated cytosolic FGFR1 fusions bind PIK3CA", "equation": "", "summary": "Activation of the PI3K pathway has been demonstrated in the case of ZMYM2-FGFR1 (Chen, 2004), BCR-FGFR1 (Demiroglu, 2001) and FOP-FGFR1 (Guasch, 2001), and is presumed to occur to a greater or lesser extent in other FGFR1 fusions as well (reviewed in Jackson, 2010). Activation of the PI3K pathway suggests that the PIK3CA catalytic subunit must be recruited to the fusion protein.", "cellular_location": "cytosol", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O15164-1", "P42336-1", "P11274-1" ], "evidence": [ { "id": "R-HSA-1839080", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1839080" } ] }, { "id": "R-HSA-1839091", "name": "Cytosolic FGFR1 fusion protein-associated PI3K phosphorylates PIP2 to PIP3", "equation": "", "summary": "Once recruited to the activated receptor, PI3K phosphorylates PIP2 to PIP3, leading to activation of AKT signaling. PI3K signaling has been demonstrated in ZMYM2-, FOP- and BCR-FGFR1 fusions (Chen, 2004; Demiroglu, 2001; Guasch, 2001), as well as downstream of a number of other FGFR mutants (see for instance, Byron, 2008; Kunii, 2008; Agazie, 2003; Takeda, 2007).", "cellular_location": "cytosol, plasma membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O15164-1", "P42336-1", "P11274-1" ], "evidence": [ { "id": "R-HSA-1839091", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1839091" } ] }, { "id": "R-HSA-1839094", "name": "Activated FGFR1 mutants and fusions bind PLCG1", "equation": "", "summary": "Although it has not been rigourously established, there is some evidence that PLC-gamma signaling may be activated after autophosphorylation of some FGFR mutants, analagous to the wild type receptor (see for instance, Hart, 2000; Chen, 2005; Cha, 2008; di Martino, 2009; Gartside, 2009; Cross, 2000; Hatch, 2006). The extent to which each of the mutants activates this pathway and to which proliferation and tumorigenesis relies on PLC-gamma dependent signaling, remains to be more firmly established. FGFR1 fusions with ZMYM2, BCR, FGFR1OP and TRIM24 all result in recruitment and phosphorylation of PLCgamma, and where mutational studies have been performed, mutation of the PLCgamma binding site Y766 has been shown to abrogate this signaling (Guasch, 2001; Roumiantsev, 2004, Lelievre, 2008, Chase, 2007). In the case of BCR-FGFR1 and ZMYM2-FGFR1, mutation of the PLCgamma binding site significantly decreased the transformative phenotype of the FGFR1 fusion (Roumiantsev, 2004).", "cellular_location": "cytosol, plasma membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O15164-1", "P19174-1", "P11362-1", "P11274-1" ], "evidence": [ { "id": "R-HSA-1839094", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1839094" } ] }, { "id": "R-HSA-1839098", "name": "Activated FGFR1 mutants and fusions phosphorylate PLCG1", "equation": "", "summary": "By analogy with the wild-type pathway, PLC-gamma is presumed to be phosphorylated by activated FGFR mutants, resulting in PLC-gamma activation, stimulation of phosphatidyl inositol hydrolysis and generation of two second messengers, diacylglycerol and inositol (1,4,5) P3.", "cellular_location": "cytosol", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O15164-1", "P19174-1", "P11362-1", "P11274-1" ], "evidence": [ { "id": "R-HSA-1839098", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1839098" } ] }, { "id": "R-HSA-1839100", "name": "p-4Y- PLCG1 dissociates from activated FGFR1 mutants and fusions", "equation": "", "summary": "Dissociation from the activated receptor quickly follows phosphorylation of PLC-gamma. Phosphorylated PLC-gamma catalyzes the hydrolysis of phosphatidylinositol(4, 5)bisphosphate to generate two second messengers, diacylglycerol and inositol (1,4,5) triphosphate.", "cellular_location": "cytosol, plasma membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O15164-1", "P19174-1", "P11362-1", "P11274-1" ], "evidence": [ { "id": "R-HSA-1839100", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1839100" } ] }, { "id": "R-HSA-6802927", "name": "BRAF and RAF fusion mutant dimers are phosphorylated", "equation": "", "summary": "Fusion mutants of BRAF and RAF1 are believed to form constitutive dimers and activate downstream signaling independent of RAS and external stimuli (Jones et al, 2008; Cin et al, 2011; Palanisamy et al, 2010; Ciampi et al, 2005; Stransky et al, 2014; Hutchinson et al, 2013; Zhang et al, 2013; Lee et al, 2012; Ricarte-Filho et al, 2013; reviewed in Lavoie and Therrien et al, 2015). The RAF portion of the fusion mutants may undergo phosphorylation of the N-region and activation loops similar to WT as shown in this reaction, although this has not been studied in detail. While WT RAF phosphorylation happens in the context of a complex with with RAS, this is unlikely to be the case for the fusion mutants, as many of these proteins lack the N-terminal RAS binding domain (reviewed in Lavoie and Therrien, 2015).", "cellular_location": "cytosol", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O15164-1", "Q6ZMT4-1", "O60674-1", "Q9UQM7-1", "P12931-1", "Q53H12-1", "P04049-1", "P10398-1", "P15056-1", "Q13554-1", "P36507-1", "Q7KZF4-1", "Q02750-1", "Q13557-1", "Q5XG87-1", "Q13555-1" ], "evidence": [ { "id": "R-HSA-6802927", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6802927" } ] }, { "id": "R-HSA-6802932", "name": "Dissociation of BRAF/RAF fusion complex", "equation": "", "summary": "After phosphorylation by MAP2Ks, the scaffolded kinase complex assembled by BRAF and RAF fusion dimers presumably dissociates, as is the case for WT complexes (Jones et al, 2008; Cin et al, 2011; Palanisamy et al, 2010; Ciampi et al, 2005; Stransky et al, 2014; Hutchinson et al, 2013; Zhang et al, 2013; Lee et al, 2012; Ricarte-Filho et al, 2013; reviewed in Lavoie and Therrien et al, 2015).", "cellular_location": "cytosol", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P27361-1", "O15164-1", "Q6ZMT4-1", "P41240-1", "P61224-1", "P62834-1", "P12931-1", "Q53H12-1", "P15056-1", "P27448-5", "P60709-1", "P63261-1", "P28482-1", "P36507-1", "Q7KZF4-1", "Q8IVT5-1", "Q02750-1", "Q6VAB6-1", "Q5XG87-1" ], "evidence": [ { "id": "R-HSA-6802932", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6802932" } ] }, { "id": "R-HSA-6802933", "name": "p-BRAF and RAF fusion dimers phosphorylate MAP2Ks", "equation": "", "summary": "BRAF and RAF fusion dimers constitutively phosphorylate MAP2Ks (Jones et al, 2008; Cin et al, 2011; Palanisamy et al, 2010; Ciampi et al, 2005; Stransky et al, 2014; Hutchinson et al, 2013; Zhang et al, 2013; Lee et al, 2012; Ricarte-Filho et al, 2013; reviewed in Lavoie and Therrien et al, 2015).", "cellular_location": "cytosol", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P27361-1", "O15164-1", "Q6ZMT4-1", "P41240-1", "P61224-1", "P62834-1", "P12931-1", "Q53H12-1", "P15056-1", "P27448-5", "P60709-1", "P63261-1", "P28482-1", "P36507-1", "Q7KZF4-1", "Q8IVT5-1", "Q02750-1", "Q6VAB6-1", "Q5XG87-1" ], "evidence": [ { "id": "R-HSA-6802933", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6802933" } ] }, { "id": "R-HSA-6802934", "name": "p-BRAF and RAF fusion dimers bind MAP2Ks and MAPKs", "equation": "", "summary": "BRAF and RAF fusion proteins expressed in cancer constitutively activate downstream signaling and promote cellular transformation (Jones et al, 2008; Cin et al, 2011; Palanisamy et al, 2010; Ciampi et al, 2005; Stransky et al, 2014; Hutchinson et al, 2013; Zhang et al, 2013; Lee et al, 2012; Ricarte-Filho et al, 2013; reviewed in Lavoie and Therrien et al, 2015). Recruitment of MAP2Ks and MAPKs to the fusion dimers may occur in conjunction with scaffold proteins as is the case for WT RAF dimers, however this has not been studied in detail.", "cellular_location": "cytosol", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P01111-1", "P27361-1", "O15164-1", "Q6ZMT4-1", "P41240-1", "P61224-1", "P62834-1", "P12931-1", "Q53H12-1", "P04049-1", "P10398-1", "P15056-1", "P27448-5", "P60709-1", "P63261-1", "P28482-1", "P01112-1", "P36507-1", "Q7KZF4-1", "Q8IVT5-1", "Q02750-1", "Q6VAB6-1", "Q5XG87-1" ], "evidence": [ { "id": "R-HSA-6802934", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6802934" } ] }, { "id": "R-HSA-6802935", "name": "MAPKs are phosphorylated downstream of BRAF and RAF fusion dimers", "equation": "", "summary": "MAPKs are phosphorylated downstream of constitutively active BRAF and RAF fusion proteins (Jones et al, 2008; Cin et al, 2011; Palanisamy et al, 2010; Ciampi et al, 2005; Stransky et al, 2014; Hutchinson et al, 2013; Zhang et al, 2013; Lee et al, 2012; Ricarte-Filho et al, 2013; reviewed in Lavoie and Therrien et al, 2015).", "cellular_location": "cytosol", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P27361-1", "O15164-1", "Q6ZMT4-1", "P41240-1", "P61224-1", "P62834-1", "P12931-1", "Q53H12-1", "P15056-1", "P27448-5", "P60709-1", "P63261-1", "P28482-1", "P36507-1", "Q7KZF4-1", "Q8IVT5-1", "Q02750-1", "Q6VAB6-1", "Q5XG87-1" ], "evidence": [ { "id": "R-HSA-6802935", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6802935" } ] } ], "reaction_participants": [], "reaction_enzymes": [ { "uniprot_ac": "O15164", "gene_name": "TRIM24", "activity": [ { "ec_number": "2.3.2.27", "activity": "S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.", "evidence": [ { "id": "O15164", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O15164" } ] }, { "ec_number": "2.3.2.27", "activity": "", "evidence": [ { "id": "O15164", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O15164" } ] } ] }, { "uniprot_ac": "O60674", "gene_name": "JAK2", "activity": [ { "ec_number": "2.7.10.2", "activity": "ATP + L-tyrosyl-[protein] = ADP + H(+) + O-phospho-L-tyrosyl-[protein].", "evidence": [ { "id": "O60674", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O60674" } ] }, { "ec_number": "2.7.10.2", "activity": "", "evidence": [ { "id": "O60674", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O60674" } ] } ] }, { "uniprot_ac": "P01111", "gene_name": "NRAS", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "P01111", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P01111" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "P01111", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P01111" } ] } ] }, { "uniprot_ac": "P01112", "gene_name": "HRAS", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "P01112", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P01112" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "P01112", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P01112" } ] } ] }, { "uniprot_ac": "P04049", "gene_name": "RAF1", "activity": [ { "ec_number": "2.7.11.1", "activity": "ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein].", "evidence": [ { "id": "P04049", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P04049" } ] }, { "ec_number": "2.7.11.1", "activity": "", "evidence": [ { "id": "P04049", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P04049" } ] } ] }, { "uniprot_ac": "P10398", "gene_name": "ARAF", "activity": [ { "ec_number": "2.7.11.1", "activity": "ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein].", "evidence": [ { "id": "P10398", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P10398" } ] }, { "ec_number": "2.7.11.1", "activity": "", "evidence": [ { "id": "P10398", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P10398" } ] } ] }, { "uniprot_ac": "P11274", "gene_name": "BCR", "activity": [ { "ec_number": "2.7.11.1", "activity": "ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein].", "evidence": [ { "id": "P11274", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P11274" } ] }, { "ec_number": "2.7.11.1", "activity": "", "evidence": [ { "id": "P11274", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P11274" } ] } ] }, { "uniprot_ac": "P11362", "gene_name": "FGFR1", "activity": [ { "ec_number": "2.7.10.1", "activity": "ATP + L-tyrosyl-[protein] = ADP + H(+) + O-phospho-L-tyrosyl-[protein].", "evidence": [ { "id": "P11362", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P11362" } ] }, { "ec_number": "2.7.10.1", "activity": "", "evidence": [ { "id": "P11362", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P11362" } ] } ] }, { "uniprot_ac": "P12931", "gene_name": "SRC", "activity": [ { "ec_number": "2.7.10.2", "activity": "ATP + L-tyrosyl-[protein] = ADP + H(+) + O-phospho-L-tyrosyl-[protein].", "evidence": [ { "id": "P12931", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P12931" } ] }, { "ec_number": "2.7.10.2", "activity": "", "evidence": [ { "id": "P12931", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P12931" } ] } ] }, { "uniprot_ac": "P15056", "gene_name": "BRAF", "activity": [ { "ec_number": "2.7.11.1", "activity": "ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein].", "evidence": [ { "id": "P15056", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P15056" } ] }, { "ec_number": "2.7.11.1", "activity": "", "evidence": [ { "id": "P15056", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P15056" } ] } ] }, { "uniprot_ac": "P19174", "gene_name": "PLCG1", "activity": [ { "ec_number": "3.1.4.11", "activity": "a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol-4,5-bisphosphate) + H2O = 1D-myo-inositol 1,4,5-trisphosphate + a 1,2-diacyl-sn-glycerol + H(+).", "evidence": [ { "id": "P19174", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P19174" } ] }, { "ec_number": "3.1.4.11", "activity": "", "evidence": [ { "id": "P19174", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P19174" } ] } ] }, { "uniprot_ac": "P27361", "gene_name": "MAPK3", "activity": [ { "ec_number": "2.7.11.24", "activity": "ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein].", "evidence": [ { "id": "P27361", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P27361" } ] }, { "ec_number": "2.7.11.24", "activity": "", "evidence": [ { "id": "P27361", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P27361" } ] } ] }, { "uniprot_ac": "P27448", "gene_name": "MARK3", "activity": [ { "ec_number": "2.7.11.1", "activity": "ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein].", "evidence": [ { "id": "P27448", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P27448" } ] }, { "ec_number": "2.7.11.1", "activity": "", "evidence": [ { "id": "P27448", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P27448" } ] } ] }, { "uniprot_ac": "P28482", "gene_name": "MAPK1", "activity": [ { "ec_number": "2.7.11.24", "activity": "ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein].", "evidence": [ { "id": "P28482", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P28482" } ] }, { "ec_number": "2.7.11.24", "activity": "", "evidence": [ { "id": "P28482", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P28482" } ] } ] }, { "uniprot_ac": "P36507", "gene_name": "MAP2K2", "activity": [ { "ec_number": "2.7.12.2", "activity": "ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein].", "evidence": [ { "id": "P36507", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P36507" } ] }, { "ec_number": "2.7.12.2", "activity": "", "evidence": [ { "id": "P36507", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P36507" } ] } ] }, { "uniprot_ac": "P41240", "gene_name": "CSK", "activity": [ { "ec_number": "2.7.10.2", "activity": "ATP + L-tyrosyl-[protein] = ADP + H(+) + O-phospho-L-tyrosyl-[protein].", "evidence": [ { "id": "P41240", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P41240" } ] }, { "ec_number": "2.7.10.2", "activity": "", "evidence": [ { "id": "P41240", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P41240" } ] } ] }, { "uniprot_ac": "P42336", "gene_name": "PIK3CA", "activity": [ { "ec_number": "2.7.1.153", "activity": "a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol-4,5-bisphosphate) + ATP = a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol-3,4,5-trisphosphate) + ADP + H(+).", "evidence": [ { "id": "P42336", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P42336" } ] }, { "ec_number": "2.7.1.153", "activity": "", "evidence": [ { "id": "P42336", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P42336" } ] }, { "ec_number": "2.7.11.1", "activity": "ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein].", "evidence": [ { "id": "P42336", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P42336" } ] }, { "ec_number": "2.7.1.137", "activity": "a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol) + ATP = a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol-3-phosphate) + ADP + H(+).", "evidence": [ { "id": "P42336", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P42336" } ] }, { "ec_number": "2.7.1.137", "activity": "", "evidence": [ { "id": "P42336", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P42336" } ] } ] }, { "uniprot_ac": "P60709", "gene_name": "ACTB", "activity": [ { "ec_number": "3.6.4.-", "activity": "", "evidence": [ { "id": "P60709", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P60709" } ] } ] }, { "uniprot_ac": "P61224", "gene_name": "RAP1B", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "P61224", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P61224" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "P61224", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P61224" } ] } ] }, { "uniprot_ac": "P62834", "gene_name": "RAP1A", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "P62834", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P62834" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "P62834", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P62834" } ] } ] }, { "uniprot_ac": "P63261", "gene_name": "ACTG1", "activity": [ { "ec_number": "3.6.4.-", "activity": "", "evidence": [ { "id": "P63261", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P63261" } ] } ] }, { "uniprot_ac": "Q02750", "gene_name": "MAP2K1", "activity": [ { "ec_number": "2.7.12.2", "activity": "ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein].", "evidence": [ { "id": "Q02750", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q02750" } ] }, { "ec_number": "2.7.12.2", "activity": "", "evidence": [ { "id": "Q02750", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q02750" } ] } ] }, { "uniprot_ac": "Q13554", "gene_name": "CAMK2B", "activity": [ { "ec_number": "2.7.11.17", "activity": "ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein].", "evidence": [ { "id": "Q13554", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q13554" } ] }, { "ec_number": "2.7.11.17", "activity": "", "evidence": [ { "id": "Q13554", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q13554" } ] } ] }, { "uniprot_ac": "Q13555", "gene_name": "CAMK2G", "activity": [ { "ec_number": "2.7.11.17", "activity": "ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein].", "evidence": [ { "id": "Q13555", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q13555" } ] }, { "ec_number": "2.7.11.17", "activity": "", "evidence": [ { "id": "Q13555", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q13555" } ] } ] }, { "uniprot_ac": "Q13557", "gene_name": "CAMK2D", "activity": [ { "ec_number": "2.7.11.17", "activity": "ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein].", "evidence": [ { "id": "Q13557", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q13557" } ] }, { "ec_number": "2.7.11.17", "activity": "", "evidence": [ { "id": "Q13557", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q13557" } ] } ] }, { "uniprot_ac": "Q53H12", "gene_name": "AGK", "activity": [ { "ec_number": "2.7.1.107", "activity": "a 1,2-diacyl-sn-glycerol + ATP = a 1,2-diacyl-sn-glycero-3-phosphate + ADP + H(+).", "evidence": [ { "id": "Q53H12", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q53H12" } ] }, { "ec_number": "2.7.1.94", "activity": "a monoacylglycerol + ATP = ADP + H(+) + monoacyl-sn-glycero-3-phosphate.", "evidence": [ { "id": "Q53H12", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q53H12" } ] }, { "ec_number": "2.7.1.138", "activity": "an N-acylsphing-4-enine + ATP = ADP + an N-acylsphing-4-enine 1-phosphate + H(+).", "evidence": [ { "id": "Q53H12", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q53H12" } ] }, { "ec_number": "2.7.1.107", "activity": "", "evidence": [ { "id": "Q53H12", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q53H12" } ] }, { "ec_number": "2.7.1.138", "activity": "", "evidence": [ { "id": "Q53H12", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q53H12" } ] }, { "ec_number": "2.7.1.94", "activity": "", "evidence": [ { "id": "Q53H12", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q53H12" } ] } ] }, { "uniprot_ac": "Q5XG87", "gene_name": "TENT4A", "activity": [ { "ec_number": "2.7.7.-", "activity": "", "evidence": [ { "id": "Q5XG87", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q5XG87" } ] }, { "ec_number": "2.7.7.19", "activity": "ATP + RNA(n) = diphosphate + RNA(n)-3'-adenine ribonucleotide.", "evidence": [ { "id": "Q5XG87", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q5XG87" } ] } ] }, { "uniprot_ac": "Q6VAB6", "gene_name": "KSR2", "activity": [ { "ec_number": "2.7.11.1", "activity": "ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein].", "evidence": [ { "id": "Q6VAB6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6VAB6" } ] }, { "ec_number": "2.7.11.1", "activity": "", "evidence": [ { "id": "Q6VAB6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6VAB6" } ] } ] }, { "uniprot_ac": "Q6ZMT4", "gene_name": "KDM7A", "activity": [ { "ec_number": "1.14.11.65", "activity": "2 2-oxoglutarate + N(6),N(6)-dimethyl-L-lysyl(9)-[histone H3] + 2 O2 = 2 CO2 + 2 formaldehyde + L-lysyl(9)-[histone H3] + 2 succinate.", "evidence": [ { "id": "Q6ZMT4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6ZMT4" } ] } ] }, { "uniprot_ac": "Q7KZF4", "gene_name": "SND1", "activity": [ { "ec_number": "3.1.31.1", "activity": "Endonucleolytic cleavage to nucleoside 3'-phosphates and 3'-phosphooligonucleotide end-products.", "evidence": [ { "id": "Q7KZF4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q7KZF4" } ] }, { "ec_number": "3.1.31.1", "activity": "", "evidence": [ { "id": "Q7KZF4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q7KZF4" } ] } ] }, { "uniprot_ac": "Q8IVT5", "gene_name": "KSR1", "activity": [ { "ec_number": "2.7.11.1", "activity": "ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein].", "evidence": [ { "id": "Q8IVT5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8IVT5" } ] }, { "ec_number": "2.7.11.1", "activity": "", "evidence": [ { "id": "Q8IVT5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8IVT5" } ] } ] }, { "uniprot_ac": "Q9UQM7", "gene_name": "CAMK2A", "activity": [ { "ec_number": "2.7.11.17", "activity": "ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein].", "evidence": [ { "id": "Q9UQM7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9UQM7" } ] }, { "ec_number": "2.7.11.17", "activity": "", "evidence": [ { "id": "Q9UQM7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9UQM7" } ] } ] } ], "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": [], "o_linked_sites": [ 580 ], "snv_sites": [ 146, 153, 580, 610, 622, 754, 756, 770, 899, 990 ], "glycation_sites": [], "phosphorylation_sites": [ 101, 110, 654, 660, 667, 685, 687, 744, 768, 771, 772, 773, 808, 811, 818, 1019, 1025, 1028, 1042 ], "sequon_annotation_sites": [ { "start_pos": 1017, "end_pos": 1019 }, { "start_pos": 401, "end_pos": 403 }, { "start_pos": 521, "end_pos": 523 }, { "start_pos": 582, "end_pos": 584 }, { "start_pos": 655, "end_pos": 657 }, { "start_pos": 662, "end_pos": 664 }, { "start_pos": 766, "end_pos": 768 }, { "start_pos": 796, "end_pos": 798 } ] }, "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": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "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": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "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_predicted", "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_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": 19 }, { "field": "total_sites", "count": 19 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 10 }, { "field": "total_sites", "count": 10 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 3 }, { "field": "total_sites", "count": 3 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 7 }, { "field": "total_sites", "count": 7 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 106 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }