{ "uniprot_canonical_ac": "O43914-1", "uniprot_ac": "O43914", "uniprot_id": "TYOBP_HUMAN", "mass": { "chemical_mass": 12179.0, "monoisotopic_mass": 12179.0 }, "refseq": { "ac": "NP_001166985", "name": "TYRO protein tyrosine kinase-binding protein isoform 3 precursor", "summary": "This gene encodes a transmembrane signaling polypeptide which contains an immunoreceptor tyrosine-based activation motif (ITAM) in its cytoplasmic domain. The encoded protein may associate with the killer-cell inhibitory receptor (KIR) family of membrane glycoproteins and may act as an activating signal transduction element. This protein may bind zeta-chain (TCR) associated protein kinase 70kDa (ZAP-70) and spleen tyrosine kinase (SYK) and play a role in signal transduction, bone modeling, brain myelination, and inflammation. Mutations within this gene have been associated with polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL), also known as Nasu-Hakola disease. Its putative receptor, triggering receptor expressed on myeloid cells 2 (TREM2), also causes PLOSL. Multiple alternative transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Mar 2010].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001166985" }, "gene_names": [ { "name": "TYROBP", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O43914", "id": "O43914" }, { "name": "DAP12; KARAP; PLOSL; PLOSL1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001166985", "id": "NP_001166985" }, { "name": "DAP12", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O43914", "id": "O43914" }, { "name": "KARAP", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O43914", "id": "O43914" }, { "name": "TYROBP", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001166985", "id": "NP_001166985" } ], "protein_names": [ { "name": "TYRO protein tyrosine kinase-binding protein", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O43914" }, { "name": "DNAX-activation protein 12; TYRO protein tyrosine kinase binding protein; KAR-associated protein; killer-activating receptor-associated protein; polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy; DNAX adaptor protein 12", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001166985", "id": "NP_001166985" }, { "name": "DNAX-activation protein 12", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43914" }, { "name": "KAR-associated protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43914" }, { "name": "Killer-activating receptor-associated protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43914" }, { "name": "TYRO protein tyrosine kinase-binding protein isoform 3 precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001166985", "id": "NP_001166985" } ], "function": [ { "annotation": "Adapter protein which non-covalently associates with activating receptors found on the surface of a variety of immune cells to mediate signaling and cell activation following ligand binding by the receptors (PubMed:9490415, PubMed:9655483, PubMed:10604985). TYROBP is tyrosine-phosphorylated in the ITAM domain following ligand binding by the associated receptors which leads to activation of additional tyrosine kinases and subsequent cell activation (PubMed:9490415). Also has an inhibitory role in some cells (PubMed:21727189). Non-covalently associates with activating receptors of the CD300 family to mediate cell activation (PubMed:15557162, PubMed:16920917, PubMed:17928527, PubMed:26221034). Also mediates cell activation through association with activating receptors of the CD200R family (By similarity). Required for neutrophil activation mediated by integrin (By similarity). Required for the activation of myeloid cells mediated by the CLEC5A/MDL1 receptor (PubMed:10449773). Associates with natural killer (NK) cell receptors such as KIR2DS2 and the KLRD1/KLRC2 heterodimer to mediate NK cell activation (PubMed:9490415, PubMed:9655483, PubMed:23715743). Also enhances trafficking and cell surface expression of NK cell receptors KIR2DS1, KIR2DS2 and KIR2DS4 and ensures their stability at the cell surface (PubMed:23715743). Associates with SIRPB1 to mediate activation of myeloid cells such as monocytes and dendritic cells (PubMed:10604985). Associates with TREM1 to mediate activation of neutrophils and monocytes (PubMed:10799849). Associates with TREM2 on monocyte-derived dendritic cells to mediate up-regulation of chemokine receptor CCR7 and dendritic cell maturation and survival (PubMed:11602640). Association with TREM2 mediates cytokine-induced formation of multinucleated giant cells which are formed by the fusion of macrophages (PubMed:18957693). Stabilizes the TREM2 C-terminal fragment (TREM2-CTF) produced by TREM2 ectodomain shedding which suppresses the release of pro-inflammatory cytokines (PubMed:25957402). In microglia, required with TREM2 for phagocytosis of apoptotic neurons (By similarity). Required with ITGAM/CD11B in microglia to control production of microglial superoxide ions which promote the neuronal apoptosis that occurs during brain development (By similarity). Promotes pro-inflammatory responses in microglia following nerve injury which accelerates degeneration of injured neurons (By similarity). Positively regulates the expression of the IRAK3/IRAK-M kinase and IL10 production by liver dendritic cells and inhibits their T cell allostimulatory ability (By similarity). Negatively regulates B cell proliferation (PubMed:21727189). Required for CSF1-mediated osteoclast cytoskeletal organization (By similarity). Positively regulates multinucleation during osteoclast development (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "O43914", "url": "https://www.uniprot.org/uniprot/O43914#function" }, { "database": "PubMed", "id": "16920917", "url": "https://glygen.org/publication/PubMed/16920917" }, { "database": "PubMed", "id": "17928527", "url": "https://glygen.org/publication/PubMed/17928527" }, { "database": "PubMed", "id": "10449773", "url": "https://glygen.org/publication/PubMed/10449773" }, { "database": "PubMed", "id": "15557162", "url": "https://glygen.org/publication/PubMed/15557162" }, { "database": "PubMed", "id": "10799849", "url": "https://glygen.org/publication/PubMed/10799849" }, { "database": "UniProtKB", "id": "O54885", "url": "https://www.uniprot.org/uniprot/O54885#function" }, { "database": "PubMed", "id": "25957402", "url": "https://glygen.org/publication/PubMed/25957402" }, { "database": "PubMed", "id": "23715743", "url": "https://glygen.org/publication/PubMed/23715743" }, { "database": "PubMed", "id": "9490415", "url": "https://glygen.org/publication/PubMed/9490415" }, { "database": "PubMed", "id": "9655483", "url": "https://glygen.org/publication/PubMed/9655483" }, { "database": "PubMed", "id": "11602640", "url": "https://glygen.org/publication/PubMed/11602640" }, { "database": "PubMed", "id": "26221034", "url": "https://glygen.org/publication/PubMed/26221034" }, { "database": "PubMed", "id": "10604985", "url": "https://glygen.org/publication/PubMed/10604985" }, { "database": "PubMed", "id": "21727189", "url": "https://glygen.org/publication/PubMed/21727189" }, { "database": "PubMed", "id": "18957693", "url": "https://glygen.org/publication/PubMed/18957693" } ] }, { "annotation": "Human early-onset dementia caused by DAP12 deficiency reveals a unique signature of dysregulated microglia. Erratum:[Nat Immunol. 2023 Feb 20;:. PMID: 36807644]", "evidence": [ { "database": "RefSeq", "id": "NP_001166985", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001166985" }, { "database": "PubMed", "id": "36658241", "url": "https://glygen.org/publication/PubMed/36658241" } ] }, { "annotation": "MMP9 and TYROBP affect the survival of circulating tumor cells in clear cell renal cell carcinoma by adapting to tumor immune microenvironment. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001166985", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001166985" }, { "database": "PubMed", "id": "37117633", "url": "https://glygen.org/publication/PubMed/37117633" } ] }, { "annotation": "TYRO protein tyrosine kinase-binding protein predicts favorable overall survival in osteosarcoma and correlates with antitumor immunity.", "evidence": [ { "database": "RefSeq", "id": "NP_001166985", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001166985" }, { "database": "PubMed", "id": "36181123", "url": "https://glygen.org/publication/PubMed/36181123" } ] }, { "annotation": "TYROBP as a molecular target in cholangiocarcinoma, renal cancer and abdominal aortic aneurysm.", "evidence": [ { "database": "RefSeq", "id": "NP_001166985", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001166985" }, { "database": "PubMed", "id": "38181271", "url": "https://glygen.org/publication/PubMed/38181271" } ] }, { "annotation": "The role of SPI1-TYROBP-FCER1G network in oncogenesis and prognosis of osteosarcoma, and its association with immune infiltration. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001166985", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001166985" }, { "database": "PubMed", "id": "35078433", "url": "https://glygen.org/publication/PubMed/35078433" } ] }, { "annotation": "This gene encodes a transmembrane signaling polypeptide which contains an immunoreceptor tyrosine-based activation motif (ITAM) in its cytoplasmic domain. The encoded protein may associate with the killer-cell inhibitory receptor (KIR) family of membrane glycoproteins and may act as an activating signal transduction element. This protein may bind zeta-chain (TCR) associated protein kinase 70kDa (ZAP-70) and spleen tyrosine kinase (SYK) and play a role in signal transduction, bone modeling, brain myelination, and inflammation. Mutations within this gene have been associated with polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL), also known as Nasu-Hakola disease. Its putative receptor, triggering receptor expressed on myeloid cells 2 (TREM2), also causes PLOSL. Multiple alternative transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Mar 2010].", "evidence": [ { "database": "RefSeq", "id": "NP_001166985", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001166985" } ] } ], "disease": [ { "disease_id": "DOID:0090112", "recommended_name": { "id": "DOID:0090112", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0090112", "name": "Nasu-Hakola disease", "description": "A syndrome that is characterized by progressive presenile dementia and recurrent bone fractures due to polycystic osseous lesions of the lower and upper extremities that has_material_basis_in homozygous mutation in the TYRO protein tyrosine kinase binding protein (TYROBP) gene on chromosome 19q13 or homozygous mutation in the triggering receptor expressed on myeloid cells 2 (TREM2) gene on chromosome 6p21." }, "synonyms": [ { "id": "DOID:0090112", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0090112", "name": "NHD", "description": "" }, { "id": "DOID:0090112", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0090112", "name": "PLO-SL", "description": "" }, { "id": "DOID:0090112", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0090112", "name": "PLOSL", "description": "" }, { "id": "DOID:0090112", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0090112", "name": "progressive dementia with lipomembranous polycystic osteodysplasia; brain-bone-fat disease", "description": "" }, { "id": "DOID:0090112", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0090112", "name": "presenile dementia with bone cysts", "description": "" }, { "id": "DOID:0090112", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0090112", "name": "polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy", "description": "" }, { "id": "MONDO:0020749", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020749", "name": "polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1", "description": "" }, { "id": "MONDO:0020749", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020749", "name": "polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1", "description": "" }, { "id": "MIM:221770", "resource": "MIM", "url": "https://www.omim.org/entry/221770", "name": "Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1", "description": "Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1" } ], "evidence": [ { "id": "221770", "database": "MIM", "url": "https://www.omim.org/entry/221770" } ] } ], "snv": [ { "evidence": [ { "id": "O43914", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O43914" } ], "glycoeffect": [], "start_pos": 55, "end_pos": 55, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "V", "sequence_mut": "L", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "35907512", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "V55", "disease": [ { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ] }, { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] }, { "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 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"https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "No", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O43914", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43914" } ], "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": "No", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O43914", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43914" } ], "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": "up", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "O43914", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43914" } ], "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": "down", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "O43914", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43914" } ], "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": 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protein OS=Homo sapiens OX=9606 GN=TYROBP PE=1 SV=1 CANONICAL=O43914-1" }, "locus": { "chromosome": "19", "start_pos": 35908228, "end_pos": 35904572, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000262629.9", "url": "https://www.ensembl.org/id/ENST00000262629.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000262629.3", "url": "https://www.ensembl.org/id/ENSP00000262629.3" } ] } }, { "isoform_ac": "O43914-2", "url": "", "sequence": { "sequence": "MGGLEPCSRLLLLPLLLAVSGLRPVQAQAQSDCSCSTVSPGVLAGIVMGDLVLTVLIALAVYFLGRLVPRGRGAAEATRKQRITETESPYQELQGQRSDVYSDLNTQRPYYK", "length": 112, "header": "sp|O43914-2|TYOBP_HUMAN Isoform 2 of TYRO protein tyrosine kinase-binding protein OS=Homo sapiens OX=9606 GN=TYROBP PE=1 SV=1 CANONICAL=O43914-1" }, "locus": { "chromosome": "19", "start_pos": 35908228, "end_pos": 35904572, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000589517.1", "url": "https://www.ensembl.org/id/ENST00000589517.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000468447.1", "url": "https://www.ensembl.org/id/ENSP00000468447.1" } ] } }, { "isoform_ac": "O43914-3", "url": "", "sequence": { "sequence": "MGGLEPCSRLLLLPLLLAVSDCSCSTVSPGVLAGIVMGDLVLTVLIALAVYFLGRLVPRGRGAAEAATRKQRITETESPYQELQGQRSDVYSDLNTQRPYYK", "length": 102, "header": "sp|O43914-3|TYOBP_HUMAN Isoform 3 of TYRO protein tyrosine kinase-binding protein OS=Homo sapiens OX=9606 GN=TYROBP PE=1 SV=1 CANONICAL=O43914-1" }, "locus": { "chromosome": "19", "start_pos": 35908228, "end_pos": 35904572, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000544690.6", "url": "https://www.ensembl.org/id/ENST00000544690.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000445332.1", "url": "https://www.ensembl.org/id/ENSP00000445332.1" } ] } }, { "isoform_ac": "X6RGC9-1", "url": "", "sequence": { "sequence": "MGGLEPCSRLLLLPLLLAVSDCSCSTVSPGVLAGIVMGDLVLTVLIALAVYFLGRLVPRGRGAAEATRKQRITETESPYQELQGQRSDVYSDLNTQRPYYK", "length": 101, "header": "tr|X6RGC9-1|X6RGC9_HUMAN Computationally mapped isoform of TYRO protein tyrosine kinase-binding protein OS=Homo sapiens OX=9606 GN=TYROBP PE=1 SV=1 CANONICAL=O43914-1" }, "locus": { "chromosome": "19", "start_pos": 35908228, "end_pos": 35904572, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000424586.7", "url": "https://www.ensembl.org/id/ENST00000424586.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000402371.3", "url": "https://www.ensembl.org/id/ENSP00000402371.3" } ] } } ], "glycosylation": [], "phosphorylation": [ { "start_pos": 102, "end_pos": 102, "kinase_uniprot_canonical_ac": "P43405-1", "kinase_gene_name": "SYK", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O43914", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43914" }, { "database": "PubMed", "id": "9490415", "url": "https://glygen.org/publication/PubMed/9490415" }, { "database": "phospho.ELM", "id": "O43914", "url": "http://phospho.elm.eu.org/byAccession/O43914.html" } ], "site_lbl": "Tyr102" }, { "start_pos": 102, "end_pos": 102, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "Phosphotyrosine", "evidence": [ { "database": "UniProtKB", "id": "O43914", "url": "https://www.uniprot.org/uniprot/O43914" }, { "database": "PRO", "id": "O43914", "url": "http://purl.obolibrary.org/obo/O43914" }, { "database": "iPTMnet", "id": "O43914", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43914" } ], "site_lbl": "Tyr102" }, { "start_pos": 91, "end_pos": 91, "kinase_uniprot_canonical_ac": "P43405-1", "kinase_gene_name": "SYK", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O43914", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43914" }, { "database": "PubMed", "id": "9490415", "url": "https://glygen.org/publication/PubMed/9490415" }, { "database": "phospho.ELM", "id": "O43914", "url": "http://phospho.elm.eu.org/byAccession/O43914.html" } ], "site_lbl": "Tyr91" }, { "start_pos": 91, "end_pos": 91, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "Phosphotyrosine", "evidence": [ { "database": "UniProtKB", "id": "O43914", "url": "https://www.uniprot.org/uniprot/O43914" }, { "database": "phospho.ELM", "id": "O43914", "url": "http://phospho.elm.eu.org/byAccession/O43914.html" }, { "database": "iPTMnet", "id": "O43914", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43914" }, { "database": "PubMed", "id": "18083107", "url": "https://glygen.org/publication/PubMed/18083107" }, { "database": "PRO", "id": "O43914", "url": "http://purl.obolibrary.org/obo/O43914" } ], "site_lbl": "Tyr91" } ], "glycation": [], "keywords": [], "publication": [ { "title": "The hematopoietic-specific adaptor protein gads functions in T-cell signaling via interactions with the SLP-76 and LAT adaptors.", "journal": "Current biology : CB", "date": "1999", "authors": "Liu SK, Fang N, Koretzky GA, McGlade CJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-2424491", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2424491" } ], "reference": [ { "type": "PubMed", "id": "10021361", "url": "https://glygen.org/publication/PubMed/10021361" } ] }, { "title": "Tyrosine phosphorylation of SLP-76 is downstream of Syk following stimulation of the collagen receptor in platelets.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Gross BS, Lee JR, Clements JL, Turner M, Tybulewicz VL, Findell PR, Koretzky GA, Watson SP", "evidence": [ { "database": "Reactome", "id": "R-HSA-2424491", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2424491" } ], "reference": [ { "type": "PubMed", "id": "10026222", "url": "https://glygen.org/publication/PubMed/10026222" } ] }, { "title": "NKp44, a triggering receptor involved in tumor cell lysis by activated human natural killer cells, is a novel member of the immunoglobulin superfamily.", "journal": "The Journal of experimental medicine", "date": "1999", "authors": "Cantoni C, Bottino C, Vitale M, Pessino A, Augugliaro R, Malaspina A, Parolini S, Moretta L, Moretta A, Biassoni R", "evidence": [ { "database": "Reactome", "id": "R-HSA-2172127", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2172127" } ], "reference": [ { "type": "PubMed", "id": "10049942", "url": "https://glygen.org/publication/PubMed/10049942" } ] }, { "title": "Cutting edge: a role for the adaptor protein LAT in human NK cell-mediated cytotoxicity.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "1999", "authors": "Jevremovic D, Billadeau DD, Schoon RA, Dick CJ, Irvin BJ, Zhang W, Samelson LE, Abraham RT, Leibson PJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-2424491", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2424491" } ], "reference": [ { "type": "PubMed", "id": "10072481", "url": "https://glygen.org/publication/PubMed/10072481" } ] }, { "title": "Grf40, A novel Grb2 family member, is involved in T cell signaling through interaction with SLP-76 and LAT.", "journal": "The Journal of experimental medicine", "date": "1999", "authors": "Asada H, Ishii N, Sasaki Y, Endo K, Kasai H, Tanaka N, Takeshita T, Tsuchiya S, Konno T, Sugamura K", "evidence": [ { "database": "Reactome", "id": "R-HSA-2424491", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2424491" } ], "reference": [ { "type": "PubMed", "id": "10224278", "url": "https://glygen.org/publication/PubMed/10224278" } ] }, { "title": "Myeloid DAP12-associating lectin (MDL)-1 is a cell surface receptor involved in the activation of myeloid cells.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1999", "authors": "Bakker AB, Baker E, Sutherland GR, Phillips JH, Lanier LL", "evidence": [ { "database": "UniProtKB", "id": "O43914", "url": "https://www.uniprot.org/uniprot/O43914" }, { "database": "Reactome", "id": "R-HSA-2172127", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2172127" } ], "reference": [ { "type": "PubMed", "id": "10449773", "url": "https://glygen.org/publication/PubMed/10449773" } ] }, { "title": "SHPS-1 is a scaffold for assembling distinct adhesion-regulated multi-protein complexes in macrophages.", "journal": "Current biology : CB", "date": "1999", "authors": "Timms JF, Swanson KD, Marie-Cardine A, Raab M, Rudd CE, Schraven B, Neel BG", "evidence": [ { "database": "Reactome", "id": "R-HSA-391160", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-391160" } ], "reference": [ { "type": "PubMed", "id": "10469599", "url": "https://glygen.org/publication/PubMed/10469599" } ] }, { "title": "Identification and molecular cloning of p75/AIRM1, a novel member of the sialoadhesin family that functions as an inhibitory receptor in human natural killer cells.", "journal": "The Journal of experimental medicine", "date": "1999", "authors": "Falco M, Biassoni R, Bottino C, Vitale M, Sivori S, Augugliaro R, Moretta L, Moretta A", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "10499918", "url": "https://glygen.org/publication/PubMed/10499918" } ] }, { "title": "Plexins are a large family of receptors for transmembrane, secreted, and GPI-anchored semaphorins in vertebrates.", "journal": "Cell", "date": "1999", "authors": "Tamagnone L, Artigiani S, Chen H, He Z, Ming GI, Song H, Chedotal A, Winberg ML, Goodman CS, Poo M, Tessier-Lavigne M, Comoglio PM", "evidence": [ { "database": "Reactome", "id": "R-HSA-416700", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-416700" } ], "reference": [ { "type": "PubMed", "id": "10520995", "url": "https://glygen.org/publication/PubMed/10520995" } ] }, { "title": "Human signal-regulatory protein is expressed on normal, but not on subsets of leukemic myeloid cells and mediates cellular adhesion involving its counterreceptor CD47.", "journal": "Blood", "date": "1999", "authors": "Seiffert M, Cant C, Chen Z, Rappold I, Brugger W, Kanz L, Brown EJ, Ullrich A, Buhring HJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-391160", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-391160" } ], "reference": [ { "type": "PubMed", "id": "10572074", "url": "https://glygen.org/publication/PubMed/10572074" } ] }, { "title": "Cutting edge: signal-regulatory protein beta 1 is a DAP12-associated activating receptor expressed in myeloid cells.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "2000", "authors": "Dietrich J, Cella M, Seiffert M, Buhring HJ, Colonna M", "evidence": [ { "database": "UniProtKB", "id": "O43914", "url": "https://www.uniprot.org/uniprot/O43914" }, { "database": "Reactome", "id": "R-HSA-2172127", "url": 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"https://www.reactome.org/PathwayBrowser/#R-HSA-2424491" } ], "reference": [ { "type": "PubMed", "id": "10744696", "url": "https://glygen.org/publication/PubMed/10744696" } ] }, { "title": "The CMRF-35H gene structure predicts for an independently expressed member of an ITIM/ITAM pair of molecules localized to human chromosome 17.", "journal": "Tissue antigens", "date": "2000", "authors": "Clark GJ, Green BJ, Hart DN", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "10746781", "url": "https://glygen.org/publication/PubMed/10746781" } ] }, { "title": "Cutting edge: inflammatory responses can be triggered by TREM-1, a novel receptor expressed on neutrophils and monocytes.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "2000", "authors": "Bouchon A, Dietrich J, Colonna M", "evidence": [ { "database": "UniProtKB", "id": "O43914", "url": "https://www.uniprot.org/uniprot/O43914" } ], "reference": [ { "type": "PubMed", "id": "10799849", "url": "https://glygen.org/publication/PubMed/10799849" } ] }, { "title": "Association of Grb2, Gads, and phospholipase C-gamma 1 with phosphorylated LAT tyrosine residues. Effect of LAT tyrosine mutations on T cell angigen receptor-mediated signaling.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Zhang W, Trible RP, Zhu M, Liu SK, McGlade CJ, Samelson LE", "evidence": [ { "database": "Reactome", "id": "R-HSA-2424491", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2424491" } ], "reference": [ { "type": "PubMed", "id": "10811803", "url": "https://glygen.org/publication/PubMed/10811803" } ] }, { "title": "Loss-of-function mutations in TYROBP (DAP12) result in a presenile dementia with bone cysts.", "journal": "Nat. Genet.", "date": "2000", "authors": "Paloneva J, Kestil\u00e4 M, Wu J, Salminen A, B\u00f6hling T, Ruotsalainen V, Hakola P, Bakker A B, Phillips J H, Pekkarinen P, Lanier L L, Timonen T, Peltonen L", "evidence": [ { "database": "UniProtKB", "id": "O43914", "url": "https://www.uniprot.org/uniprot/O43914" } ], "reference": [ { "type": "PubMed", "id": "10888890", "url": "https://glygen.org/publication/PubMed/10888890" } ] }, { "title": "Association of signal-regulatory proteins beta with KARAP/DAP-12.", "journal": "European journal of immunology", "date": "2000", "authors": "Tomasello E, Cant C, Buhring HJ, Vely F, Andre P, Seiffert M, Ullrich A, Vivier E", "evidence": [ { "database": "Reactome", "id": "R-HSA-2172127", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2172127" } ], "reference": [ { "type": "PubMed", "id": "10940905", "url": "https://glygen.org/publication/PubMed/10940905" } ] }, { "title": "The mechanism of phospholipase C-gamma1 regulation.", "journal": "Experimental & molecular medicine", "date": "2000", "authors": "Kim MJ, Kim E, Ryu SH, Suh PG", "evidence": [ { "database": "Reactome", "id": "R-HSA-2424491", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2424491" } ], "reference": [ { "type": "PubMed", "id": "11048639", "url": "https://glygen.org/publication/PubMed/11048639" } ] }, { "title": "Vav3 mediates receptor protein tyrosine kinase signaling, regulates GTPase activity, modulates cell morphology, and induces cell transformation.", "journal": "Molecular and cellular biology", "date": "2000", "authors": "Zeng L, Sachdev P, Yan L, Chan JL, Trenkle T, McClelland M, Welsh J, Wang LH", "evidence": [ { "database": "Reactome", "id": "R-HSA-2424491", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2424491" } ], "reference": [ { "type": "PubMed", "id": "11094073", "url": "https://glygen.org/publication/PubMed/11094073" } ] }, { "title": "Identification of CD72 as a lymphocyte receptor for the class IV semaphorin CD100: a novel mechanism for regulating B cell signaling.", "journal": "Immunity", "date": "2000", "authors": "Kumanogoh A, Watanabe C, Lee I, Wang X, Shi W, Araki H, Hirata H, Iwahori K, Uchida J, Yasui T, Matsumoto M, Yoshida K, Yakura H, Pan C, Parnes JR, Kikutani H", "evidence": [ { "database": "Reactome", "id": "R-HSA-416700", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-416700" } ], "reference": [ { "type": "PubMed", "id": "11114375", "url": "https://glygen.org/publication/PubMed/11114375" } ] }, { "title": "Identification of NKp80, a novel triggering molecule expressed by human NK cells.", "journal": "European journal of immunology", "date": "2001", "authors": "Vitale M, Falco M, Castriconi R, Parolini S, Zambello R, Semenzato G, Biassoni R, Bottino C, Moretta L, Moretta A", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "11265639", "url": "https://glygen.org/publication/PubMed/11265639" } ] }, { "title": "Mapping the Zap-70 phosphorylation sites on LAT (linker for activation of T cells) required for recruitment and activation of signalling proteins in T cells.", "journal": "The Biochemical journal", "date": "2001", "authors": "Paz PE, Wang S, Clarke H, Lu X, Stokoe D, Abo A", "evidence": [ { "database": "Reactome", "id": "R-HSA-2424491", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2424491" } ], "reference": [ { "type": "PubMed", "id": "11368773", "url": "https://glygen.org/publication/PubMed/11368773" } ] }, { "title": "Identification of a phospholipase C-gamma1 (PLC-gamma1) SH3 domain-binding site in SLP-76 required for T-cell receptor-mediated activation of PLC-gamma1 and NFAT.", "journal": "Molecular and cellular biology", "date": "2001", "authors": "Yablonski D, Kadlecek T, Weiss A", "evidence": [ { "database": "Reactome", "id": "R-HSA-2424491", "url": 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