{ "uniprot_canonical_ac": "Q6UVK1-1", "uniprot_ac": "Q6UVK1", "uniprot_id": "CSPG4_HUMAN", "mass": { "chemical_mass": 250537.0, "monoisotopic_mass": 250537.0 }, "refseq": { "ac": "NP_001888", "name": "chondroitin sulfate proteoglycan 4 precursor", "summary": "A human melanoma-associated chondroitin sulfate proteoglycan plays a role in stabilizing cell-substratum interactions during early events of melanoma cell spreading on endothelial basement membranes. CSPG4 represents an integral membrane chondroitin sulfate proteoglycan expressed by human malignant melanoma cells. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001888" }, "gene_names": [ { "name": "CSPG4", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/Q6UVK1", "id": "Q6UVK1" }, { "name": "CSPG4A; HMW-MAA; MCSP; MCSPG; MEL-CSPG; MSK16; NG2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001888", "id": "NP_001888" }, { "name": "CSPG4", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001888", "id": "NP_001888" }, { "name": "MCSP", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q6UVK1", "id": "Q6UVK1" } ], "protein_names": [ { "name": "Chondroitin sulfate proteoglycan 4", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "Q6UVK1" }, { "name": "Chondroitin sulfate proteoglycan NG2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q6UVK1" }, { "name": "Melanoma chondroitin sulfate proteoglycan", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q6UVK1" }, { "name": "Melanoma-associated chondroitin sulfate proteoglycan", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q6UVK1" }, { "name": "chondroitin sulfate proteoglycan 4 (melanoma-associated); melanoma-associated chondroitin sulfate proteoglycan; chondroitin sulfate proteoglycan NG2; melanoma chondroitin sulfate proteoglycan", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001888", "id": "NP_001888" }, { "name": "chondroitin sulfate proteoglycan 4 precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001888", "id": "NP_001888" } ], "function": [ { "annotation": "A human melanoma-associated chondroitin sulfate proteoglycan plays a role in stabilizing cell-substratum interactions during early events of melanoma cell spreading on endothelial basement membranes. CSPG4 represents an integral membrane chondroitin sulfate proteoglycan expressed by human malignant melanoma cells. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_001888", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001888" } ] }, { "annotation": "CSPG4 expression in soft tissue sarcomas is associated with poor prognosis and low cytotoxic immune response. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001888", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001888" }, { "database": "PubMed", "id": "36221119", "url": "https://glygen.org/publication/PubMed/36221119" } ] }, { "annotation": "Discovery of Hippo signaling as a regulator of CSPG4 expression and as a therapeutic target for Clostridioides difficile disease. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001888", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001888" }, { "database": "PubMed", "id": "36972308", "url": "https://glygen.org/publication/PubMed/36972308" } ] }, { "annotation": "Disrupting mechanical homeostasis promotes matrix metalloproteinase-13 mediated processing of neuron glial antigen 2 in mandibular condylar cartilage. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001888", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001888" }, { "database": "PubMed", "id": "37154195", "url": "https://glygen.org/publication/PubMed/37154195" } ] }, { "annotation": "Neuron-Glial Antigen 2 Participates in Liver Fibrosis via Regulating the Differentiation of Bone Marrow Mesenchymal Stem Cell to Myofibroblast. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001888", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001888" }, { "database": "PubMed", "id": "36674693", "url": "https://glygen.org/publication/PubMed/36674693" } ] }, { "annotation": "Proteoglycan playing a role in cell proliferation and migration which stimulates endothelial cells motility during microvascular morphogenesis. May also inhibit neurite outgrowth and growth cone collapse during axon regeneration. Cell surface receptor for collagen alpha 2(VI) which may confer cells ability to migrate on that substrate. Binds through its extracellular N-terminus growth factors, extracellular matrix proteases modulating their activity. May regulate MPP16-dependent degradation and invasion of type I collagen participating in melanoma cells invasion properties. May modulate the plasminogen system by enhancing plasminogen activation and inhibiting angiostatin. Functions also as a signal transducing protein by binding through its cytoplasmic C-terminus scaffolding and signaling proteins. May promote retraction fiber formation and cell polarization through Rho GTPase activation. May stimulate alpha-4, beta-1 integrin-mediated adhesion and spreading by recruiting and activating a signaling cascade through CDC42, ACK1 and BCAR1. May activate FAK and ERK1/ERK2 signaling cascades.", "evidence": [ { "database": "UniProtKB", "id": "Q6UVK1", "url": "https://www.uniprot.org/uniprot/Q6UVK1#function" }, { "database": "PubMed", "id": "10587647", "url": "https://glygen.org/publication/PubMed/10587647" }, { "database": "PubMed", "id": "15210734", "url": "https://glygen.org/publication/PubMed/15210734" }, { "database": "PubMed", "id": "11278606", "url": "https://glygen.org/publication/PubMed/11278606" } ] }, { "annotation": "Trophoblast-specific knockdown of CSPG4 expression causes pregnancy complications with poor placentation in mice.", "evidence": [ { "database": "RefSeq", "id": "NP_001888", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001888" }, { "database": "PubMed", "id": "36634519", "url": "https://glygen.org/publication/PubMed/36634519" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "Q6UVK1", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/Q6UVK1" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 102, "end_pos": 102, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "M", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "15", "chr_pos": "75690760", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "T102", "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": "" } ] }, { "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 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"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" } ] }, { "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 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"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": "rs532782733", "database": "dbSNP", "url": 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Most primary malignant ovarian neoplasms are either carcinomas (serous, mucinous, or endometrioid adenocarcinomas) or malignant germ cell tumors. 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"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, 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"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": "" 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"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 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"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 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"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 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"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, 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"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 - 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"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", 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"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", 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"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": "Q6UVK1", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q6UVK1" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] } ] }, { "significant": "No", "trend": "down", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "Q6UVK1", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q6UVK1" } ], "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": "down", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "Q6UVK1", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q6UVK1" } ], "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": "Q6UVK1", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q6UVK1" } ], "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": "Yes", "trend": "up", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "Q6UVK1", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q6UVK1" } ], "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": "Q6UVK1", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q6UVK1" } ], "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": "down", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "Q6UVK1", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q6UVK1" } ], "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": 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"http://pfam.xfam.org/family/PF02210", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF16184", "url": "http://pfam.xfam.org/family/PF16184", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "Q6UVK1", "url": "https://pharos.nih.gov/targets/Q6UVK1", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR:000057425", "url": "https://proconsortium.org/app/entry/PR:000057425", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000057426", "url": "https://proconsortium.org/app/entry/PR:000057426", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000057427", "url": "https://proconsortium.org/app/entry/PR:000057427", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000057428", "url": "https://proconsortium.org/app/entry/PR:000057428", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR_Q6UVK1", "url": "http://purl.obolibrary.org/obo/PR_Q6UVK1", 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Classification" ] }, { "id": "R-HSA-3595172", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3595172", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-3595174", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3595174", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-3595177", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3595177", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-4420332", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4420332", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_001888", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001888", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "Q6UVK1", "url": "DISABLED", "database": "UniCarbKB", "categories": [ "Glycoproteomics" ] }, { "id": "Q6UVK1", "url": "https://www.uniprot.org/uniprot/Q6UVK1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q6UVK1-1", "url": "https://www.uniprot.org/uniprot/Q6UVK1-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MQSGPRPPLPAPGLALALTLTMLARLASAASFFGENHLEVPVATALTDIDLQLQFSTSQPEALLLLAAGPADHLLLQLYSGRLQVRLVLGQEELRLQTPAETLLSDSIPHTVVLTVVEGWATLSVDGFLNASSAVPGAPLEVPYGLFVGGTGTLGLPYLRGTSRPLRGCLHAATLNGRSLLRPLTPDVHEGCAEEFSASDDVALGFSGPHSLAAFPAWGTQDEGTLEFTLTTQSRQAPLAFQAGGRRGDFIYVDIFEGHLRAVVEKGQGTVLLHNSVPVADGQPHEVSVHINAHRLEISVDQYPTHTSNRGVLSYLEPRGSLLLGGLDAEASRHLQEHRLGLTPEATNASLLGCMEDLSVNGQRRGLREALLTRNMAAGCRLEEEEYEDDAYGHYEAFSTLAPEAWPAMELPEPCVPEPGLPPVFANFTQLLTISPLVVAEGGTAWLEWRHVQPTLDLMEAELRKSQVLFSVTRGARHGELELDIPGAQARKMFTLLDVVNRKARFIHDGSEDTSDQLVLEVSVTARVPMPSCLRRGQTYLLPIQVNPVNDPPHIIFPHGSLMVILEHTQKPLGPEVFQAYDPDSACEGLTFQVLGTSSGLPVERRDQPGEPATEFSCRELEAGSLVYVHRGGPAQDLTFRVSDGLQASPPATLKVVAIRPAIQIHRSTGLRLAQGSAMPILPANLSVETNAVGQDVSVLFRVTGALQFGELQKQGAGGVEGAEWWATQAFHQRDVEQGRVRYLSTDPQHHAYDTVENLALEVQVGQEILSNLSFPVTIQRATVWMLRLEPLHTQNTQQETLTTAHLEATLEEAGPSPPTFHYEVVQAPRKGNLQLQGTRLSDGQGFTQDDIQAGRVTYGATARASEAVEDTFRFRVTAPPYFSPLYTFPIHIGGDPDAPVLTNVLLVVPEGGEGVLSADHLFVKSLNSASYLYEVMERPRHGRLAWRGTQDKTTMVTSFTNEDLLRGRLVYQHDDSETTEDDIPFVATRQGESSGDMAWEEVRGVFRVAIQPVNDHAPVQTISRIFHVARGGRRLLTTDDVAFSDADSGFADAQLVLTRKDLLFGSIVAVDEPTRPIYRFTQEDLRKRRVLFVHSGADRGWIQLQVSDGQHQATALLEVQASEPYLRVANGSSLVVPQGGQGTIDTAVLHLDTNLDIRSGDEVHYHVTAGPRWGQLVRAGQPATAFSQQDLLDGAVLYSHNGSLSPRDTMAFSVEAGPVHTDATLQVTIALEGPLAPLKLVRHKKIYVFQGEAAEIRRDQLEAAQEAVPPADIVFSVKSPPSAGYLVMVSRGALADEPPSLDPVQSFSQEAVDTGRVLYLHSRPEAWSDAFSLDVASGLGAPLEGVLVELEVLPAAIPLEAQNFSVPEGGSLTLAPPLLRVSGPYFPTLLGLSLQVLEPPQHGALQKEDGPQARTLSAFSWRMVEEQLIRYVHDGSETLTDSFVLMANASEMDRQSHPVAFTVTVLPVNDQPPILTTNTGLQMWEGATAPIPAEALRSTDGDSGSEDLVYTIEQPSNGRVVLRGAPGTEVRSFTQAQLDGGLVLFSHRGTLDGGFRFRLSDGEHTSPGHFFRVTAQKQVLLSLKGSQTLTVCPGSVQPLSSQTLRASSSAGTDPQLLLYRVVRGPQLGRLFHAQQDSTGEALVNFTQAEVYAGNILYEHEMPPEPFWEAHDTLELQLSSPPARDVAATLAVAVSFEAACPQRPSHLWKNKGLWVPEGQRARITVAALDASNLLASVPSPQRSEHDVLFQVTQFPSRGQLLVSEEPLHAGQPHFLQSQLAAGQLVYAHGGGGTQQDGFHFRAHLQGPAGASVAGPQTSEAFAITVRDVNERPPQPQASVPLRLTRGSRAPISRAQLSVVDPDSAPGEIEYEVQRAPHNGFLSLVGGGLGPVTRFTQADVDSGRLAFVANGSSVAGIFQLSMSDGASPPLPMSLAVDILPSAIEVQLRAPLEVPQALGRSSLSQQQLRVVSDREEPEAAYRLIQGPQYGHLLVGGRPTSAFSQFQIDQGEVVFAFTNFSSSHDHFRVLALARGVNASAVVNVTVRALLHVWAGGPWPQGATLRLDPTVLDAGELANRTGSVPRFRLLEGPRHGRVVRVPRARTEPGGSQLVEQFTQQDLEDGRLGLEVGRPEGRAPGPAGDSLTLELWAQGVPPAVASLDFATEPYNAARPYSVALLSVPEAARTEAGKPESSTPTGEPGPMASSPEPAVAKGGFLSFLEANMFSVIIPMCLVLLLLALILPLLFYLRKRNKTGKHDVQVLTAKPRNGLAGDTETFRKVEPGQAIPLTAVPGQGPPPGGQPDPELLQFCRTPNPALKNGQYWV", "length": 2322, "header": "sp|Q6UVK1-1|CSPG4_HUMAN Isoform 1 of Chondroitin sulfate proteoglycan 4 OS=Homo sapiens OX=9606 GN=CSPG4 PE=1 SV=2 CANONICAL=Q6UVK1-1" }, "isoforms": [ { "isoform_ac": "Q6UVK1-1", "url": "", "sequence": { "sequence": "MQSGPRPPLPAPGLALALTLTMLARLASAASFFGENHLEVPVATALTDIDLQLQFSTSQPEALLLLAAGPADHLLLQLYSGRLQVRLVLGQEELRLQTPAETLLSDSIPHTVVLTVVEGWATLSVDGFLNASSAVPGAPLEVPYGLFVGGTGTLGLPYLRGTSRPLRGCLHAATLNGRSLLRPLTPDVHEGCAEEFSASDDVALGFSGPHSLAAFPAWGTQDEGTLEFTLTTQSRQAPLAFQAGGRRGDFIYVDIFEGHLRAVVEKGQGTVLLHNSVPVADGQPHEVSVHINAHRLEISVDQYPTHTSNRGVLSYLEPRGSLLLGGLDAEASRHLQEHRLGLTPEATNASLLGCMEDLSVNGQRRGLREALLTRNMAAGCRLEEEEYEDDAYGHYEAFSTLAPEAWPAMELPEPCVPEPGLPPVFANFTQLLTISPLVVAEGGTAWLEWRHVQPTLDLMEAELRKSQVLFSVTRGARHGELELDIPGAQARKMFTLLDVVNRKARFIHDGSEDTSDQLVLEVSVTARVPMPSCLRRGQTYLLPIQVNPVNDPPHIIFPHGSLMVILEHTQKPLGPEVFQAYDPDSACEGLTFQVLGTSSGLPVERRDQPGEPATEFSCRELEAGSLVYVHRGGPAQDLTFRVSDGLQASPPATLKVVAIRPAIQIHRSTGLRLAQGSAMPILPANLSVETNAVGQDVSVLFRVTGALQFGELQKQGAGGVEGAEWWATQAFHQRDVEQGRVRYLSTDPQHHAYDTVENLALEVQVGQEILSNLSFPVTIQRATVWMLRLEPLHTQNTQQETLTTAHLEATLEEAGPSPPTFHYEVVQAPRKGNLQLQGTRLSDGQGFTQDDIQAGRVTYGATARASEAVEDTFRFRVTAPPYFSPLYTFPIHIGGDPDAPVLTNVLLVVPEGGEGVLSADHLFVKSLNSASYLYEVMERPRHGRLAWRGTQDKTTMVTSFTNEDLLRGRLVYQHDDSETTEDDIPFVATRQGESSGDMAWEEVRGVFRVAIQPVNDHAPVQTISRIFHVARGGRRLLTTDDVAFSDADSGFADAQLVLTRKDLLFGSIVAVDEPTRPIYRFTQEDLRKRRVLFVHSGADRGWIQLQVSDGQHQATALLEVQASEPYLRVANGSSLVVPQGGQGTIDTAVLHLDTNLDIRSGDEVHYHVTAGPRWGQLVRAGQPATAFSQQDLLDGAVLYSHNGSLSPRDTMAFSVEAGPVHTDATLQVTIALEGPLAPLKLVRHKKIYVFQGEAAEIRRDQLEAAQEAVPPADIVFSVKSPPSAGYLVMVSRGALADEPPSLDPVQSFSQEAVDTGRVLYLHSRPEAWSDAFSLDVASGLGAPLEGVLVELEVLPAAIPLEAQNFSVPEGGSLTLAPPLLRVSGPYFPTLLGLSLQVLEPPQHGALQKEDGPQARTLSAFSWRMVEEQLIRYVHDGSETLTDSFVLMANASEMDRQSHPVAFTVTVLPVNDQPPILTTNTGLQMWEGATAPIPAEALRSTDGDSGSEDLVYTIEQPSNGRVVLRGAPGTEVRSFTQAQLDGGLVLFSHRGTLDGGFRFRLSDGEHTSPGHFFRVTAQKQVLLSLKGSQTLTVCPGSVQPLSSQTLRASSSAGTDPQLLLYRVVRGPQLGRLFHAQQDSTGEALVNFTQAEVYAGNILYEHEMPPEPFWEAHDTLELQLSSPPARDVAATLAVAVSFEAACPQRPSHLWKNKGLWVPEGQRARITVAALDASNLLASVPSPQRSEHDVLFQVTQFPSRGQLLVSEEPLHAGQPHFLQSQLAAGQLVYAHGGGGTQQDGFHFRAHLQGPAGASVAGPQTSEAFAITVRDVNERPPQPQASVPLRLTRGSRAPISRAQLSVVDPDSAPGEIEYEVQRAPHNGFLSLVGGGLGPVTRFTQADVDSGRLAFVANGSSVAGIFQLSMSDGASPPLPMSLAVDILPSAIEVQLRAPLEVPQALGRSSLSQQQLRVVSDREEPEAAYRLIQGPQYGHLLVGGRPTSAFSQFQIDQGEVVFAFTNFSSSHDHFRVLALARGVNASAVVNVTVRALLHVWAGGPWPQGATLRLDPTVLDAGELANRTGSVPRFRLLEGPRHGRVVRVPRARTEPGGSQLVEQFTQQDLEDGRLGLEVGRPEGRAPGPAGDSLTLELWAQGVPPAVASLDFATEPYNAARPYSVALLSVPEAARTEAGKPESSTPTGEPGPMASSPEPAVAKGGFLSFLEANMFSVIIPMCLVLLLLALILPLLFYLRKRNKTGKHDVQVLTAKPRNGLAGDTETFRKVEPGQAIPLTAVPGQGPPPGGQPDPELLQFCRTPNPALKNGQYWV", "length": 2322, "header": "sp|Q6UVK1-1|CSPG4_HUMAN Isoform 1 of Chondroitin sulfate proteoglycan 4 OS=Homo sapiens OX=9606 GN=CSPG4 PE=1 SV=2 CANONICAL=Q6UVK1-1" }, "locus": { "chromosome": "15", "start_pos": 75712755, "end_pos": 75675553, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000308508.5", "url": "https://www.ensembl.org/id/ENST00000308508.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000312506.5", "url": "https://www.ensembl.org/id/ENSP00000312506.5" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 1131, "start_aa": "Asn", "end_pos": 1131, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1131", "evidence": [ { "id": "Q6UVK1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6UVK1#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 1202, "start_aa": "Asn", "end_pos": 1202, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1202", "evidence": [ { "id": "Q6UVK1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6UVK1#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 130, "start_aa": "Asn", "end_pos": 130, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn130", "evidence": [ { "id": "Q6UVK1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6UVK1#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 1364, "start_aa": "Asn", "end_pos": 1364, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1364", "evidence": [ { "id": "Q6UVK1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6UVK1#ptm_processing" } ] }, { "glytoucan_ac": "G62765YT", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 1449, "start_aa": "Asn", "end_pos": 1449, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1449", "evidence": [ { "id": "Q6UVK1", "database": "UniCarbKB", "url": "" }, { "id": "29671580", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29671580" } ] }, { "glytoucan_ac": "G64527OM", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 1449, "start_aa": "Asn", "end_pos": 1449, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1449", "evidence": [ { "id": "2028", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2028" }, { "id": "29671580", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29671580" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 1449, "start_aa": "Asn", "end_pos": 1449, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1449", "evidence": [ { "id": "Q6UVK1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6UVK1#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 1645, "start_aa": "Asn", "end_pos": 1645, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1645", "evidence": [ { "id": "Q6UVK1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6UVK1#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 1909, "start_aa": "Asn", "end_pos": 1909, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1909", "evidence": [ { "id": "Q6UVK1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6UVK1#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 2016, "start_aa": "Asn", "end_pos": 2016, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2016", "evidence": [ { "id": "Q6UVK1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6UVK1#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", 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A seventh member of the human beta4-galactosyltransferase gene family.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Almeida R, Levery SB, Mandel U, Kresse H, Schwientek T, Bennett EP, Clausen H", "evidence": [ { "database": "Reactome", "id": "R-HSA-1971475", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1971475" } ], "reference": [ { "type": "PubMed", "id": "10473568", "url": "https://glygen.org/publication/PubMed/10473568" } ] }, { "title": "Molecular basis for the progeroid variant of Ehlers-Danlos syndrome. Identification and characterization of two mutations in galactosyltransferase I gene.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Okajima T, Fukumoto S, Furukawa K, Urano T", "evidence": [ { "database": "Reactome", "id": "R-HSA-1971475", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1971475" } ], "reference": [ { "type": "PubMed", "id": "10506123", "url": "https://glygen.org/publication/PubMed/10506123" } ] }, { "title": "Melanoma chondroitin sulphate proteoglycan regulates cell spreading through Cdc42, Ack-1 and p130cas.", "journal": "Nat. Cell Biol.", "date": "1999", "authors": "Eisenmann K.M., Furcht L.T., Guan J.-L., Iida J., Keely P.J., Lim L., Manser E., McCarthy J.B., Simpson M.A., Tachibana K.", "evidence": [ { "database": "UniProtKB", "id": "Q6UVK1", "url": "https://www.uniprot.org/uniprot/Q6UVK1" } ], "reference": [ { "type": "PubMed", "id": "10587647", "url": "https://glygen.org/publication/PubMed/10587647" } ] }, { "title": "Molecular cloning and expression of a novel chondroitin 6-O-sulfotransferase.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Kitagawa H, Fujita M, Ito N, Sugahara K", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022870", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022870" } ], "reference": [ { "type": "PubMed", "id": "10781596", "url": "https://glygen.org/publication/PubMed/10781596" } ] }, { "title": "Molecular cloning and expression of two distinct human chondroitin 4-O-sulfotransferases that belong to the HNK-1 sulfotransferase gene family.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Hiraoka N, Nakagawa H, Ong E, Akama TO, Fukuda MN, Fukuda M", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022870", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022870" } ], "reference": [ { "type": "PubMed", "id": "10781601", "url": "https://glygen.org/publication/PubMed/10781601" } ] }, { "title": "Structure/function of the human Ga1beta1,3-glucuronosyltransferase. Dimerization and functional activity are mediated by two crucial cysteine residues.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Ouzzine M, Gulberti S, Netter P, Magdalou J, Fournel-Gigleux S", "evidence": [ { "database": "Reactome", "id": "R-HSA-1971475", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1971475" } ], "reference": [ { "type": "PubMed", "id": "10842173", "url": "https://glygen.org/publication/PubMed/10842173" } ] }, { "title": "Biosynthesis of decorin and glypican.", "journal": "Matrix biology : journal of the International Society for Matrix Biology", "date": "2000", "authors": "Fransson LA, Belting M, Jonsson M, Mani K, Moses J, Oldberg A", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022870", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022870" } ], "reference": [ { "type": "PubMed", "id": "10963998", "url": "https://glygen.org/publication/PubMed/10963998" } ] }, { "title": "Molecular cloning, expression, and chromosomal mapping of human chondroitin 4-sulfotransferase, whose expression pattern in human tissues is different from that of chondroitin 6-sulfotransferase.", "journal": "Journal of biochemistry", "date": "2000", "authors": "Okuda T, Mita S, Yamauchi S, Matsubara T, Yagi F, Yamamori D, Fukuta M, Kuroiwa A, Matsuda Y, Habuchi O", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022870", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022870" } ], "reference": [ { "type": "PubMed", "id": "11056388", "url": "https://glygen.org/publication/PubMed/11056388" } ] }, { "title": "Molecular cloning and expression of human UDP-d-Xylose:proteoglycan core protein beta-d-xylosyltransferase and its first isoform XT-II.", "journal": "Journal of molecular biology", "date": "2000", "authors": "Gotting C, Kuhn J, Zahn R, Brinkmann T, Kleesiek K", "evidence": [ { "database": "Reactome", "id": "R-HSA-1971475", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1971475" } ], "reference": [ { "type": "PubMed", "id": "11099377", "url": "https://glygen.org/publication/PubMed/11099377" } ] }, { "title": "Molecular cloning and expression of an N-acetylgalactosamine-4-O-sulfotransferase that transfers sulfate to terminal and non-terminal beta 1,4-linked N-acetylgalactosamine.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Kang HG, Evers MR, Xia G, Baenziger JU, Schachner M", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022870", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022870" } ], "reference": [ { "type": "PubMed", "id": "11139592", "url": "https://glygen.org/publication/PubMed/11139592" } ] }, { "title": "Melanoma chondroitin sulfate proteoglycan regulates matrix metalloproteinase-dependent human melanoma invasion into type I collagen.", "journal": "J. Biol. Chem.", "date": "2001", "authors": "Furcht L.T., Iida J., McCarthy J.B., Simpson M.A., Pei D., Herlyn M., Kang T.", "evidence": [ { "database": "UniProtKB", "id": "Q6UVK1", "url": "https://www.uniprot.org/uniprot/Q6UVK1" } ], "reference": [ { "type": "PubMed", "id": "11278606", "url": "https://glygen.org/publication/PubMed/11278606" } ] }, { "title": "The glucuronyl C5-epimerase activity is the limiting factor in the dermatan sulfate biosynthesis.", "journal": "Archives of biochemistry and biophysics", "date": "2001", "authors": "Tiedemann K, Larsson T, Heinegard D, Malmstrom A", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022923", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022923" } ], "reference": [ { "type": "PubMed", "id": "11414686", "url": "https://glygen.org/publication/PubMed/11414686" } ] }, { "title": "Molecular cloning and characterization of a dermatan-specific N-acetylgalactosamine 4-O-sulfotransferase.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Evers MR, Xia G, Kang HG, Schachner M, Baenziger JU", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022923", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022923" } ], "reference": [ { "type": "PubMed", "id": "11470797", "url": "https://glygen.org/publication/PubMed/11470797" } ] }, { "title": "Molecular cloning and expression of a human chondroitin synthase.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Kitagawa H, Uyama T, Sugahara K", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022870", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022870" } ], "reference": [ { "type": "PubMed", "id": "11514575", "url": "https://glygen.org/publication/PubMed/11514575" } ] }, { "title": "Biosynthesis of the linkage region of glycosaminoglycans: cloning and activity of galactosyltransferase II, the sixth member of the beta 1,3-galactosyltransferase family (beta 3GalT6).", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Bai X, Zhou D, Brown JR, Crawford BE, Hennet T, Esko JD", "evidence": [ { "database": "Reactome", "id": "R-HSA-1971475", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1971475" } ], "reference": [ { "type": "PubMed", "id": "11551958", "url": "https://glygen.org/publication/PubMed/11551958" } ] }, { "title": "Molecular cloning and expression of human chondroitin N-acetylgalactosaminyltransferase: the key enzyme for chain initiation and elongation of chondroitin/dermatan sulfate on the protein linkage region tetrasaccharide shared by heparin/heparan sulfate.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Uyama T, Kitagawa H, Tamura Ji J, Sugahara K", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022870", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022870" } ], "reference": [ { "type": "PubMed", "id": "11788602", "url": "https://glygen.org/publication/PubMed/11788602" } ] }, { "title": "Molecular cloning and characterization of chondroitin-4-O-sulfotransferase-3. A novel member of the HNK-1 family of sulfotransferases.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Kang HG, Evers MR, Xia G, Baenziger JU, Schachner M", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022870", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022870" } ], "reference": [ { "type": "PubMed", "id": "12080076", "url": "https://glygen.org/publication/PubMed/12080076" } ] }, { "title": "Molecular cloning and characterization of a novel chondroitin sulfate glucuronyltransferase that transfers glucuronic acid to N-acetylgalactosamine.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Gotoh M, Yada T, Sato T, Akashima T, Iwasaki H, Mochizuki H, Inaba N, Togayachi A, Kudo T, Watanabe H, Kimata K, Narimatsu H", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022870", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022870" } ], "reference": [ { "type": "PubMed", "id": "12145278", "url": "https://glygen.org/publication/PubMed/12145278" } ] }, { "title": "Enzymatic synthesis of chondroitin with a novel chondroitin sulfate N-acetylgalactosaminyltransferase that transfers N-acetylgalactosamine to glucuronic acid in initiation and elongation of chondroitin sulfate synthesis.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Gotoh M, Sato T, Akashima T, Iwasaki H, Kameyama A, Mochizuki H, Yada T, Inaba N, Zhang Y, Kikuchi N, Kwon YD, Togayachi A, Kudo T, Nishihara S, Watanabe H, Kimata K, Narimatsu H", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022870", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022870" } ], "reference": [ { "type": "PubMed", "id": "12163485", "url": "https://glygen.org/publication/PubMed/12163485" } ] }, { "title": "A novel repeat in the melanoma-associated chondroitin sulfate proteoglycan defines a new protein family.", "journal": "FEBS Lett.", "date": "2002", "authors": "Rosenthal A., Hinzmann B., Staub E.", "evidence": [ { "database": "UniProtKB", "id": "Q6UVK1", "url": "https://www.uniprot.org/uniprot/Q6UVK1" } ], "reference": [ { "type": "PubMed", "id": "12220645", "url": "https://glygen.org/publication/PubMed/12220645" } ] }, { "title": "Biosynthesis of chondroitin/dermatan sulfate.", "journal": "IUBMB life", "date": "2002", "authors": "Silbert JE, Sugumaran G", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022923", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022923" } ], "reference": [ { "type": "PubMed", "id": "12512856", "url": "https://glygen.org/publication/PubMed/12512856" } ] }, { "title": "Cloning, characterization, and chromosome mapping of the human GlcAT-S gene.", "journal": "Journal of human genetics", "date": "2002", "authors": "Marcos I, Galan JJ, Borrego S, Antinolo G", "evidence": [ { "database": "Reactome", "id": "R-HSA-1971475", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1971475" } ], "reference": [ { "type": "PubMed", "id": "12522689", "url": "https://glygen.org/publication/PubMed/12522689" } ] }, { "title": "A novel CpG-associated brain-expressed candidate gene for chromosome 18q-linked bipolar disorder.", "journal": "Molecular psychiatry", "date": "2003", "authors": "Goossens D, Van Gestel S, Claes S, De Rijk P, Souery D, Massat I, Van den Bossche D, Backhovens H, Mendlewicz J, Van Broeckhoven C, Del-Favero J", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022923", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022923" } ], "reference": [ { "type": "PubMed", "id": "12556911", "url": "https://glygen.org/publication/PubMed/12556911" } ] }, { "title": "Chondroitin sulfate synthase-2. Molecular cloning and characterization of a novel human glycosyltransferase homologous to chondroitin sulfate glucuronyltransferase, which has dual enzymatic activities.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Yada T, Gotoh M, Sato T, Shionyu M, Go M, Kaseyama H, Iwasaki H, Kikuchi N, Kwon YD, Togayachi A, Kudo T, Watanabe H, Narimatsu H, Kimata K", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022870", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022870" } ], "reference": [ { "type": "PubMed", "id": "12761225", "url": "https://glygen.org/publication/PubMed/12761225" } ] }, { "title": "A unique nonreducing terminal modification of chondroitin sulfate by N-acetylgalactosamine 4-sulfate 6-o-sulfotransferase.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Ohtake S, Kimata K, Habuchi O", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022870", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022870" } ], "reference": [ { "type": "PubMed", "id": "12874280", "url": "https://glygen.org/publication/PubMed/12874280" } ] }, { "title": "Crystal structure of a covalent intermediate of endogenous human arylsulfatase A.", "journal": "Journal of inorganic biochemistry", "date": "2003", "authors": "Chruszcz M, Laidler P, Monkiewicz M, Ortlund E, Lebioda L, Lewinski K", "evidence": [ { "database": "Reactome", "id": "R-HSA-2024101", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2024101" } ], "reference": [ { "type": "PubMed", "id": "12888274", "url": "https://glygen.org/publication/PubMed/12888274" } ] }, { "title": "Chondroitin sulfate synthase-3. 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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": "Q6UVK1", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6UVK1" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "Mass spectrometric analysis of chondroitin sulfate-linked peptides.", "journal": "Journal of proteins and proteomics", "date": "2022", "authors": "Ramarajan Madan Gopal, Saraswat Mayank, Budhraja Rohit, Garapati Kishore, Raymond Kimiyo, Pandey Akhilesh", "evidence": [ { "database": "UniProtKB", "id": "Q6UVK1", "url": "https://www.uniprot.org/uniprot/Q6UVK1#ptm_processing" }, { "database": "UniProtKB", "id": "Q6UVK1", "url": "https://www.uniprot.org/uniprot/Q6UVK1" } ], "reference": [ { "type": "PubMed", "id": "36213313", "url": "https://glygen.org/publication/PubMed/36213313" } ] }, { "title": "CSPG4 expression in soft tissue sarcomas is associated with poor prognosis and low cytotoxic immune response.", "journal": "Journal of translational medicine", "date": "2022-10-11", "authors": "Boudin Laurys, de Nonneville A, Finetti Pascal, Mescam L\u00e9na, Le Cesne A, Italiano Antoine, Blay Jean-Yves, Birnbaum Daniel, Mamessier Emilie, Bertucci Fran\u00e7ois", "evidence": [ { "database": "RefSeq", "id": "NP_001888", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001888" } ], "reference": [ { "type": "PubMed", "id": "36221119", "url": "https://glygen.org/publication/PubMed/36221119" } ] }, { "title": "Trophoblast-specific knockdown of CSPG4 expression causes pregnancy complications with poor placentation in mice.", "journal": "Reproductive biology", "date": "2023-03", "authors": "Xu Junfei, Yuan Anwen, Su Rui, Yang Qing, Fan Xiujun, Zhang Juzuo", "evidence": [ { "database": "RefSeq", "id": "NP_001888", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001888" } ], "reference": [ { "type": "PubMed", "id": "36634519", "url": "https://glygen.org/publication/PubMed/36634519" } ] }, { "title": "Neuron-Glial Antigen 2 Participates in Liver Fibrosis via Regulating the Differentiation of Bone Marrow Mesenchymal Stem Cell to Myofibroblast.", "journal": "International journal of molecular sciences", "date": "2023-01-07", "authors": "Yang Le, Zhang Hang, Dong Chengbin, Yue Wenhui, Xue Renmin, Liu Fuquan, Yang Lin, Li Liying", "evidence": [ { "database": "RefSeq", "id": "NP_001888", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001888" } ], "reference": [ { "type": "PubMed", "id": "36674693", "url": "https://glygen.org/publication/PubMed/36674693" } ] }, { "title": "Discovery of Hippo signaling as a regulator of CSPG4 expression and as a therapeutic target for Clostridioides difficile disease.", "journal": "PLoS pathogens", "date": "2023-03", "authors": "Larabee Jason L, Doyle D Annie, Ahmed Ummey Khalecha Bintha, Shadid Tyler M, Sharp Rachel R, Jones Kenneth L, Kim Young Mi, Li Shibo, Ballard Jimmy D", "evidence": [ { "database": "RefSeq", "id": "NP_001888", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001888" } ], "reference": [ { "type": "PubMed", "id": "36972308", "url": "https://glygen.org/publication/PubMed/36972308" } ] }, { "title": "Disrupting mechanical homeostasis promotes matrix metalloproteinase-13 mediated processing of neuron glial antigen 2 in mandibular condylar cartilage.", "journal": "European cells & materials", "date": "2023-03-29", "authors": "Bagheri Varzaneh M, Zhao Y, Rozynek J, Han M, Reed D A", "evidence": [ { "database": "RefSeq", "id": "NP_001888", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001888" } ], "reference": [ { "type": "PubMed", "id": "37154195", "url": "https://glygen.org/publication/PubMed/37154195" } ] }, { "title": "Arylsulphatase B, an exo-sulphatase for chondroitin 4-sulphate tetrasaccharide.", "journal": "Hoppe-Seyler's Zeitschrift fur physiologische Chemie", "date": "1978", "authors": "Gorham SD, Cantz M", "evidence": [ { "database": "Reactome", "id": "R-HSA-2024101", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2024101" } ], "reference": [ { "type": "PubMed", "id": "738706", "url": "https://glygen.org/publication/PubMed/738706" } ] }, { "title": "A novel amino acid modification in sulfatases that is defective in multiple sulfatase deficiency.", "journal": "Cell", "date": "1995", "authors": "Schmidt B, Selmer T, Ingendoh A, von Figura K", "evidence": [ { "database": "Reactome", "id": "R-HSA-2024101", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2024101" } ], "reference": [ { "type": "PubMed", "id": "7628016", "url": "https://glygen.org/publication/PubMed/7628016" } ] }, { "title": "Identification of mutations in the alpha-L-iduronidase gene (IDUA) that cause Hurler and Scheie syndromes.", "journal": "American journal of human genetics", "date": "1993", "authors": "Scott HS, Litjens T, Nelson PV, Thompson PR, Brooks DA, Hopwood JJ, Morris CP", "evidence": [ { 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Natl. Acad. Sci. U.S.A.", "date": "1996", "authors": "Pluschke G, Vanek M, Evans A, Dittmar T, Schmid P, Itin P, Filardo EJ, Reisfeld RA", "evidence": [ { "database": "UniProtKB", "id": "Q6UVK1", "url": "https://www.uniprot.org/uniprot/Q6UVK1" } ], "reference": [ { "type": "PubMed", "id": "8790396", "url": "https://glygen.org/publication/PubMed/8790396" } ] }, { "title": "Purification, cloning, and expression of human plasma hyaluronidase.", "journal": "Biochemical and biophysical research communications", "date": "1997", "authors": "Frost GI, Csoka AB, Wong T, Stern R", "evidence": [ { "database": "Reactome", "id": "R-HSA-2024101", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2024101" } ], "reference": [ { "type": "PubMed", "id": "9223416", "url": "https://glygen.org/publication/PubMed/9223416" } ] }, { "title": "A role of chondroitin sulfate glycosaminoglycan binding site in alpha4beta1 integrin-mediated melanoma cell adhesion.", "journal": "J. Biol. Chem.", "date": "1998", "authors": "Furcht L.T., Iida J., McCarthy J.B., Kovach N.L., Meijne A.M.L., Oegema T.R. Jr., Yednock T.A.", "evidence": [ { "database": "UniProtKB", "id": "Q6UVK1", "url": "https://www.uniprot.org/uniprot/Q6UVK1" } ], "reference": [ { "type": "PubMed", "id": "9488735", "url": "https://glygen.org/publication/PubMed/9488735" } ] }, { "title": "Molecular cloning and expression of glucuronyltransferase I involved in the biosynthesis of the glycosaminoglycan-protein linkage region of proteoglycans.", "journal": "The Journal of biological chemistry", "date": "1998", "authors": "Kitagawa H, Tone Y, Tamura J, Neumann KW, Ogawa T, Oka S, Kawasaki T, Sugahara K", "evidence": [ { "database": "Reactome", "id": "R-HSA-1971475", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1971475" } ], "reference": [ { "type": "PubMed", "id": "9506957", "url": "https://glygen.org/publication/PubMed/9506957" } ] }, { "title": "Crystal structure of human arylsulfatase A: the aldehyde function and the metal ion at the active site suggest a novel mechanism for sulfate ester hydrolysis.", 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"length": 2327 }, "evidence": [ { "id": "45227627", "url": "http://www.informatics.jax.org/homology/45227627", "database": "MGI" }, { "id": "Q6UVK1", "url": "https://omabrowser.org/oma/group/Q6UVK1/", "database": "OMA" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Biological Process", "total": 9, "go_terms": [ { "name": "angiogenesis", "id": "GO:0001525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001525", "evidence": [ { "database": "UniProtKB", "id": "Q6UVK1", "url": "https://www.uniprot.org/uniprot/Q6UVK1" } ], "pmid": "" }, { "name": "intracellular signal transduction", "id": "GO:0035556", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035556", "evidence": [ { "database": "UniProtKB", "id": "Q6UVK1", "url": "https://www.uniprot.org/uniprot/Q6UVK1" } ], "pmid": "" }, { "name": "positive regulation of MAPK cascade", "id": "GO:0043410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043410", "evidence": [ { "database": "UniProtKB", "id": "Q6UVK1", "url": "https://www.uniprot.org/uniprot/Q6UVK1" } ], "pmid": "" }, { "name": "positive regulation of peptidyl-tyrosine phosphorylation", "id": "GO:0050731", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050731", "evidence": [ { "database": "UniProtKB", "id": "Q6UVK1", "url": "https://www.uniprot.org/uniprot/Q6UVK1" } ], "pmid": "" }, { "name": "substrate-dependent cell migration", "id": "GO:0006929", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006929", "evidence": [ { "database": "UniProtKB", "id": "Q6UVK1", "url": "https://www.uniprot.org/uniprot/Q6UVK1" } ], "pmid": "" }, { "name": "ruffle assembly", "id": "GO:0097178", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097178", "evidence": [ { "database": "UniProtKB", "id": "Q6UVK1", "url": "https://www.uniprot.org/uniprot/Q6UVK1" } ], "pmid": "" }, { "name": "platelet-derived growth factor receptor signaling pathway", "id": "GO:0048008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048008", "evidence": [ { "database": "UniProtKB", "id": "Q6UVK1", "url": "https://www.uniprot.org/uniprot/Q6UVK1" } ], "pmid": "" }, { "name": "glial cell migration", "id": "GO:0008347", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008347", "evidence": [ { "database": "UniProtKB", "id": "Q6UVK1", "url": "https://www.uniprot.org/uniprot/Q6UVK1" } ], "pmid": "" }, { "name": "tissue remodeling", "id": "GO:0048771", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048771", "evidence": [ { "database": "UniProtKB", "id": "Q6UVK1", "url": "https://www.uniprot.org/uniprot/Q6UVK1" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 12, "go_terms": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "Q6UVK1", "url": "https://www.uniprot.org/uniprot/Q6UVK1" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q6UVK1", "url": "https://www.uniprot.org/uniprot/Q6UVK1" } ], "pmid": "" }, { "name": "Golgi lumen", "id": "GO:0005796", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005796", "evidence": [ { "database": "UniProtKB", "id": "Q6UVK1", "url": "https://www.uniprot.org/uniprot/Q6UVK1" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q6UVK1", "url": "https://www.uniprot.org/uniprot/Q6UVK1" } ], "pmid": "" }, { "name": "focal adhesion", "id": "GO:0005925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005925", "evidence": [ { "database": "UniProtKB", "id": "Q6UVK1", "url": "https://www.uniprot.org/uniprot/Q6UVK1" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "Q6UVK1", "url": "https://www.uniprot.org/uniprot/Q6UVK1" } ], "pmid": "" }, { "name": "extracellular exosome", "id": "GO:0070062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070062", "evidence": [ { "database": "UniProtKB", "id": "Q6UVK1", "url": "https://www.uniprot.org/uniprot/Q6UVK1" } ], "pmid": "" }, { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "Q6UVK1", "url": "https://www.uniprot.org/uniprot/Q6UVK1" } ], "pmid": "" }, { "name": "ruffle", "id": "GO:0001726", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001726", "evidence": [ { "database": "UniProtKB", "id": "Q6UVK1", "url": "https://www.uniprot.org/uniprot/Q6UVK1" } ], "pmid": "" }, { "name": "lamellipodium membrane", "id": "GO:0031258", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031258", "evidence": [ { "database": "UniProtKB", "id": "Q6UVK1", "url": "https://www.uniprot.org/uniprot/Q6UVK1" } ], "pmid": "" }, { "name": "lysosomal lumen", "id": "GO:0043202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043202", "evidence": [ { "database": "UniProtKB", "id": "Q6UVK1", "url": "https://www.uniprot.org/uniprot/Q6UVK1" } ], "pmid": "" }, { "name": "collagen-containing extracellular matrix", "id": "GO:0062023", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0062023", "evidence": [ { "database": "UniProtKB", "id": "Q6UVK1", "url": "https://www.uniprot.org/uniprot/Q6UVK1" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 2, "go_terms": [ { "name": "coreceptor activity", "id": "GO:0015026", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015026", "evidence": [ { "database": "UniProtKB", "id": "Q6UVK1", "url": "https://www.uniprot.org/uniprot/Q6UVK1" } ], "pmid": "" }, { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "Q6UVK1", "url": "https://www.uniprot.org/uniprot/Q6UVK1" } ], "pmid": "" } ] } ] }, "pro_annotation": [ { "name": "chondroitin sulfate proteoglycan 4 N-glycosylated 1 (human)", "definition": "A chondroitin sulfate proteoglycan 4 (human) that has been N-glycosylated at the residue equivalent to Asn-1449 of the amino acid sequence represented by UniProtKB:Q6UVK1-1, in which the glycan composition is represented by GlyTouCan:G62765YT. Example: UniProtKB:Q6UVK1-1, Asn-1449, MOD:00160~GNO:G62765YT. [PRO:DNx, PMID:29671580]", "evidence": [ { "id": "PR:000057425", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000057425" } ] }, { "name": "chondroitin sulfate proteoglycan 4 O-glycosylated 1 (human)", "definition": "A chondroitin sulfate proteoglycan 4 (human) that has been O-glycosylated at the residue equivalent to Ser-2203 of the amino acid sequence represented by UniProtKB:Q6UVK1-1, in which the glycan composition is represented by GlyTouCan:G27391WQ. Example: UniProtKB:Q6UVK1-1, Ser-2203, MOD:00002~GNO:G27391WQ. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000057426", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000057426" } ] }, { "name": "chondroitin sulfate proteoglycan 4 O-glycosylated 2 (human)", "definition": "A chondroitin sulfate proteoglycan 4 (human) that has been O-glycosylated at the residue equivalent to Ser-2203 of the amino acid sequence represented by UniProtKB:Q6UVK1-1, in which the glycan composition is represented by GlyTouCan:G53434XO. Example: UniProtKB:Q6UVK1-1, Ser-2203, MOD:00002~GNO:G53434XO. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000057427", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000057427" } ] }, { "name": "chondroitin sulfate proteoglycan 4 O-glycosylated 3 (human)", "definition": "A chondroitin sulfate proteoglycan 4 (human) that has been O-glycosylated at the residue equivalent to Ser-2204 of the amino acid sequence represented by UniProtKB:Q6UVK1-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:Q6UVK1-1, Ser-2204, MOD:00002~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000057428", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000057428" } ] } ], "site_annotation": [ { "start_pos": 1131, "end_pos": 1133, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1202, "end_pos": 1204, "annotation": "n_glycosylation_sequon" }, { "start_pos": 130, "end_pos": 132, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1364, "end_pos": 1366, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1449, "end_pos": 1451, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1645, "end_pos": 1647, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1909, "end_pos": 1911, "annotation": "n_glycosylation_sequon" }, { "start_pos": 2016, "end_pos": 2018, "annotation": "n_glycosylation_sequon" }, { "start_pos": 2034, "end_pos": 2036, "annotation": "n_glycosylation_sequon" }, { "start_pos": 2040, "end_pos": 2042, "annotation": "n_glycosylation_sequon" }, { "start_pos": 2075, "end_pos": 2077, "annotation": "n_glycosylation_sequon" }, { "start_pos": 2250, "end_pos": 2252, "annotation": "n_glycosylation_sequon" }, { "start_pos": 348, "end_pos": 350, "annotation": "n_glycosylation_sequon" }, { "start_pos": 427, "end_pos": 429, "annotation": "n_glycosylation_sequon" }, { "start_pos": 685, "end_pos": 687, "annotation": "n_glycosylation_sequon" }, { "start_pos": 772, "end_pos": 774, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [ { "annotation": "O-glycosylated; contains glycosaminoglycan chondroitin sulfate which are required for proper localization and function in stress fiber formation (By similarity). Involved in interaction with MMP16 and ITGA4.", "evidence": [ { "database": "UniProtKB", "id": "Q6UVK1", "url": "https://www.uniprot.org/uniprot/Q6UVK1" }, { "database": "PubMed", "id": "16335952", "url": "https://glygen.org/publication/PubMed/16335952" } ] } ], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 22 }, { "field": "total_sites", "count": 19 }, { "field": "n_linked_glycans", "count": 2 }, { "field": "n_linked_glycan_sites", "count": 16 }, { "field": "o_linked_glycans", "count": 4 }, { "field": "o_linked_glycan_sites", "count": 4 } ], "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": 3 }, { "field": "total_sites", "count": 3 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 2 }, { "field": "o_linked_glycans", "count": 0 }, { "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_with_glycan", "table_stats": [ { "field": "total", "count": 6 }, { "field": "total_sites", "count": 4 }, { "field": "n_linked_glycans", "count": 2 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycans", "count": 4 }, { "field": "o_linked_glycan_sites", "count": 3 } ], "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": 13 }, { "field": "total_sites", "count": 13 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 13 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 1 } ], "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": 47 }, { "field": "total_sites", "count": 39 } ], "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": 11 }, { "field": "total_sites", "count": 11 } ], "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": 36 }, { "field": "total_sites", "count": 28 } ], "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": 84 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }