{ "uniprot_canonical_ac": "P05981-1", "uniprot_ac": "P05981", "uniprot_id": "HEPS_HUMAN", "mass": { "chemical_mass": 45011.0, "monoisotopic_mass": 45011.0 }, "refseq": { "ac": "NP_002142", "name": "serine protease hepsin precursor", "summary": "This gene encodes a type II transmembrane serine protease that may be involved in diverse cellular functions, including blood coagulation and the maintenance of cell morphology. Expression of the encoded protein is associated with the growth and progression of cancers, particularly prostate cancer. The protein is cleaved into a catalytic serine protease chain and a non-catalytic scavenger receptor cysteine-rich chain, which associate via a single disulfide bond. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002142" }, "gene_names": [ { "name": "HPN", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P05981", "id": "P05981" }, { "name": "HPN", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002142", "id": "NP_002142" }, { "name": "TMPRSS1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002142", "id": "NP_002142" }, { "name": "TMPRSS1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P05981", "id": "P05981" } ], "protein_names": [ { "name": "Serine protease hepsin", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P05981" }, { "name": "3.4.21.106", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P05981" }, { "name": "Transmembrane protease serine 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P05981" }, { "name": "serine protease hepsin precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002142", "id": "NP_002142" }, { "name": "transmembrane protease serine 1; testicular tissue protein Li 85; serine protease hepsin", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002142", "id": "NP_002142" } ], "function": [ { "annotation": "Hepsin: a multifunctional transmembrane serine protease in pathobiology. Review article", "evidence": [ { "database": "RefSeq", "id": "NP_002142", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002142" }, { "database": "PubMed", "id": "33300264", "url": "https://glygen.org/publication/PubMed/33300264" } ] }, { "annotation": "N-glycosylation mediated folding and quality control in serine proteases of the hepsin family.", "evidence": [ { "database": "RefSeq", "id": "NP_002142", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002142" }, { "database": "PubMed", "id": "37013685", "url": "https://glygen.org/publication/PubMed/37013685" } ] }, { "annotation": "Serine protease that cleaves extracellular substrates, and contributes to the proteolytic processing of growth factors, such as HGF and MST1/HGFL (PubMed:21875933, PubMed:15839837). Plays a role in cell growth and maintenance of cell morphology (PubMed:8346233, PubMed:21875933). Plays a role in the proteolytic processing of ACE2 (PubMed:24227843). Mediates the proteolytic cleavage of urinary UMOD that is required for UMOD polymerization (PubMed:26673890).", "evidence": [ { "database": "UniProtKB", "id": "P05981", "url": "https://www.uniprot.org/uniprot/P05981#function" }, { "database": "PubMed", "id": "8346233", "url": "https://glygen.org/publication/PubMed/8346233" }, { "database": "PubMed", "id": "21875933", "url": "https://glygen.org/publication/PubMed/21875933" }, { "database": "PubMed", "id": "15839837", "url": "https://glygen.org/publication/PubMed/15839837" }, { "database": "PubMed", "id": "26673890", "url": "https://glygen.org/publication/PubMed/26673890" }, { "database": "PubMed", "id": "24227843", "url": "https://glygen.org/publication/PubMed/24227843" } ] }, { "annotation": "Silencing of hepsin and inosine 5-monophosphate dehydrogenase 2 by siRNA reduces prostate cancer cells proliferation.", "evidence": [ { "database": "RefSeq", "id": "NP_002142", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002142" }, { "database": "PubMed", "id": "35484884", "url": "https://glygen.org/publication/PubMed/35484884" } ] }, { "annotation": "Spatial position is a key determinant of N-glycan functionality of the scavenger receptor cysteine-rich domain of human hepsin.", "evidence": [ { "database": "RefSeq", "id": "NP_002142", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002142" }, { "database": "PubMed", "id": "36802168", "url": "https://glygen.org/publication/PubMed/36802168" } ] }, { "annotation": "This gene encodes a type II transmembrane serine protease that may be involved in diverse cellular functions, including blood coagulation and the maintenance of cell morphology. Expression of the encoded protein is associated with the growth and progression of cancers, particularly prostate cancer. The protein is cleaved into a catalytic serine protease chain and a non-catalytic scavenger receptor cysteine-rich chain, which associate via a single disulfide bond. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013].", "evidence": [ { "database": "RefSeq", "id": "NP_002142", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002142" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs969048046", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs969048046" }, { "id": "rs969048046", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs969048046#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 112, "end_pos": 112, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NGT->SGT).", "chr_id": "19", "chr_pos": "35059918", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N112", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P05981", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P05981" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 114, "end_pos": 114, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "M", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NGT->NGM).", "chr_id": "19", "chr_pos": "35059924", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "T114", "disease": [ { "disease_id": "DOID:1115", "recommended_name": { "id": "DOID:1115", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1115", "name": "sarcoma", "description": "A cell type cancer that has_material_basis_in abnormally proliferating cells derives from embryonic mesoderm." }, "synonyms": [ { "id": "DOID:1115", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1115", "name": "connective and soft tissue neoplasm", "description": "" }, { "id": "DOID:1115", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1115", "name": "tumor of soft tissue and skeleton", "description": "" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. 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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, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P05981", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P05981" } ], "glycoeffect": [], "start_pos": 162, "end_pos": 162, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "35060376", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R162", "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" } ] }, { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs989267944", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs989267944" }, { "id": "rs989267944", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs989267944#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 325, "end_pos": 325, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NGA->NGT).", "chr_id": "19", "chr_pos": "35065604", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A325", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "93.07", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000105707", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105707" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "41.27", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000105707", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105707" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "76.48", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000105707", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105707" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "49.96", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000105707", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105707" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "73.52", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000105707", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105707" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "56.32", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000105707", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105707" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "47.76", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000105707", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105707" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "54.44", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000105707", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105707" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "85.9", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000105707", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105707" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "47.6", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000105707", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105707" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "97.99", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000105707", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105707" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "86.13", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000105707", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105707" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "75.19", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000105707", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105707" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P05981", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P05981" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", 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"MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "No", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P05981", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P05981" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "P05981", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P05981" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": 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"https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "P05981", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P05981" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] } ] }, { "significant": "No", "trend": "up", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "P05981", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P05981" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": 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"MAQKEGGRTVPCCSRPKVAALTAGTLLLLTAIGAASWAIVAVLLRSDQEPLYPVQVSSADARLMVFDKTEGTWRLLCSSRSNARVAGLSCEEMGFLRALTHSELDVRTAGANGTSGFFCVDEGRLPHTQRLLEVISVCDCPRGRFLAAICQDCGRRKLPVDRIVGGRDTSLGRWPWQVSLRYDGAHLCGGSLLSGDWVLTAAHCFPERNRVLSRWRVFAGAVAQASPHGLQLGVQAVVYHGGYLPFRDPNSEENSNDIALVHLSSPLPLTEYIQPVCLPAAGQALVDGKICTVTGWGNTQYYGQQAGVLQEARVPIISNDVCNGADFYGNQIKPKMFCAGYPEGGIDACQGDSGGPFVCEDSISRTPRWRLCGIVSWGTGCALAQKPGVYTKVSDFREWIFQAIKTHSEASGMVTQL", "length": 417, "header": "sp|P05981-1|HEPS_HUMAN Isoform 1 of Serine protease hepsin OS=Homo sapiens OX=9606 GN=HPN PE=1 SV=1 CANONICAL=P05981-1" }, "isoforms": [ { "isoform_ac": "M0QZ63-1", "url": "", "sequence": { "sequence": "MAQKEVQVSSADARLMVFDKTEGTWRLLCSSRSNARVAGLSCEEMGFLRRNRVLSRWRVFAGAVAQASPHGLQLGVQAVVYHGGYLPFRDPNSEENSNDIALVHLSSPLPLTEYIQPVCLPAAGQALVDGKICTVTGWGNTQYYGQQAGVLQEARVPIISNDVCNGADFYGNQIKPKMFCAGYPEGGIDACQGDSGGPFVCEDSISRTPRWRLCGIVSWGTGCALAQKPGVYTKVSDFREWIFQAIKTHSEASGMVTQL", "length": 259, "header": "tr|M0QZ63-1|HEPS_HUMAN Computationally mapped isoform of Serine protease hepsin OS=Homo sapiens OX=9606 GN=HPN PE=1 SV=1 CANONICAL=P05981-1" }, "locus": { "chromosome": "19", "start_pos": 35066284, "end_pos": 35042507, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000597419.1", "url": "https://www.ensembl.org/id/ENST00000597419.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000470327.1", "url": "https://www.ensembl.org/id/ENSP00000470327.1" } ] } }, { "isoform_ac": "M0R244-1", "url": "", "sequence": { "sequence": "MAQKEGGRTVPCCSRPKVAALTAGTLLLLTAIGAASWAIVAVLLRSDQEPLYPVQVSSADARLMVFDKTEGTWRLLCSSR", "length": 80, "header": "tr|M0R244-1|HEPS_HUMAN Computationally mapped isoform of Serine protease hepsin OS=Homo sapiens OX=9606 GN=HPN PE=1 SV=1 CANONICAL=P05981-1" }, "locus": { "chromosome": "19", "start_pos": 35059752, "end_pos": 35042507, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000600390.1", "url": "https://www.ensembl.org/id/ENST00000600390.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000472310.1", "url": "https://www.ensembl.org/id/ENSP00000472310.1" } ] } }, { "isoform_ac": "P05981-1", "url": "", "sequence": { "sequence": "MAQKEGGRTVPCCSRPKVAALTAGTLLLLTAIGAASWAIVAVLLRSDQEPLYPVQVSSADARLMVFDKTEGTWRLLCSSRSNARVAGLSCEEMGFLRALTHSELDVRTAGANGTSGFFCVDEGRLPHTQRLLEVISVCDCPRGRFLAAICQDCGRRKLPVDRIVGGRDTSLGRWPWQVSLRYDGAHLCGGSLLSGDWVLTAAHCFPERNRVLSRWRVFAGAVAQASPHGLQLGVQAVVYHGGYLPFRDPNSEENSNDIALVHLSSPLPLTEYIQPVCLPAAGQALVDGKICTVTGWGNTQYYGQQAGVLQEARVPIISNDVCNGADFYGNQIKPKMFCAGYPEGGIDACQGDSGGPFVCEDSISRTPRWRLCGIVSWGTGCALAQKPGVYTKVSDFREWIFQAIKTHSEASGMVTQL", "length": 417, "header": "sp|P05981-1|HEPS_HUMAN Isoform 1 of Serine protease hepsin OS=Homo sapiens OX=9606 GN=HPN PE=1 SV=1 CANONICAL=P05981-1" }, "locus": { "chromosome": "19", "start_pos": 35066284, "end_pos": 35042507, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000392226.5", "url": "https://www.ensembl.org/id/ENST00000392226.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000376060.1", "url": "https://www.ensembl.org/id/ENSP00000376060.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 112, "start_aa": "Asn", "end_pos": 112, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn112", "evidence": [ { "id": "P05981", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P05981#ptm_processing" }, { "id": "19159218", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19159218" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "enzyme", "glycoprotein", "glycoprotein_reported" ], "publication": [ { "title": "Hypoxia promotes invasive growth by transcriptional activation of the met protooncogene.", "journal": "Cancer cell", "date": "2003", "authors": "Pennacchietti S, Michieli P, Galluzzo M, Mazzone M, Giordano S, Comoglio PM", "evidence": [ { "database": "Reactome", "id": "R-HSA-6806942", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6806942" } ], "reference": [ { "type": "PubMed", "id": "12726861", "url": "https://glygen.org/publication/PubMed/12726861" } ] }, { "title": "A functional domain in the heavy chain of scatter factor/hepatocyte growth factor binds the c-Met receptor and induces cell dissociation but not mitogenesis.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1992", "authors": "Hartmann G, Naldini L, Weidner KM, Sachs M, Vigna E, Comoglio PM, Birchmeier W", "evidence": [ { "database": "Reactome", "id": "R-HSA-6806942", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6806942" } ], "reference": [ { "type": "PubMed", "id": "1280830", "url": "https://glygen.org/publication/PubMed/1280830" } ] }, { "title": "The structure of the extracellular region of human hepsin reveals a serine protease domain and a novel scavenger receptor cysteine-rich (SRCR) domain.", "journal": "Structure (London, England : 1993)", "date": "2003", "authors": "Somoza JR, Ho JD, Luong C, Ghate M, Sprengeler PA, Mortara K, Shrader WD, Sperandio D, Chan H, McGrath ME, Katz BA", "evidence": [ { "database": "UniProtKB", "id": "P05981", "url": "https://www.uniprot.org/uniprot/P05981" } ], "reference": [ { "type": "PubMed", "id": "12962630", "url": "https://glygen.org/publication/PubMed/12962630" } ] }, { "title": "Crystal structure of the HGF beta-chain in complex with the Sema domain of the Met receptor.", "journal": "The EMBO journal", "date": "2004", "authors": "Stamos J, Lazarus RA, Yao X, Kirchhofer D, Wiesmann C", "evidence": [ { "database": "Reactome", "id": "R-HSA-6806942", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6806942" } ], "reference": [ { "type": "PubMed", "id": "15167892", "url": "https://glygen.org/publication/PubMed/15167892" } ] }, { "title": "Structural and functional basis of the serine protease-like hepatocyte growth factor beta-chain in Met binding and signaling.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Kirchhofer D, Yao X, Peek M, Eigenbrot C, Lipari MT, Billeci KL, Maun HR, Moran P, Santell L, Wiesmann C, Lazarus RA", "evidence": [ { "database": "Reactome", "id": "R-HSA-6806942", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6806942" } ], "reference": [ { "type": "PubMed", "id": "15218027", "url": "https://glygen.org/publication/PubMed/15218027" } ] }, { "title": "Oligomerization-dependent changes in the thermodynamic properties of the TPR-MET receptor tyrosine kinase.", "journal": "Biochemistry", "date": "2004", "authors": "Hays JL, Watowich SJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-6806942", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6806942" } ], "reference": [ { "type": "PubMed", "id": "15301554", "url": "https://glygen.org/publication/PubMed/15301554" } ] }, { "title": "Hepsin promotes prostate cancer progression and metastasis.", "journal": "Cancer cell", "date": "2004", "authors": "Klezovitch O, Chevillet J, Mirosevich J, Roberts RL, Matusik RJ, Vasioukhin V", "evidence": [ { "database": "Reactome", "id": "R-HSA-6806942", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6806942" } ], "reference": [ { "type": "PubMed", "id": "15324701", "url": "https://glygen.org/publication/PubMed/15324701" } ] }, { "title": "The C terminus of RON tyrosine kinase plays an autoinhibitory role.", "journal": "The Journal of biological chemistry", "date": "2005", "authors": "Yokoyama N, Ischenko I, Hayman MJ, Miller WT", "evidence": [ { "database": "Reactome", "id": "R-HSA-8852405", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8852405" } ], "reference": [ { "type": "PubMed", "id": "15632155", "url": "https://glygen.org/publication/PubMed/15632155" } ] }, { "title": "Conformational lability in serine protease active sites: structures of hepatocyte growth factor activator (HGFA) alone and with the inhibitory domain from HGFA inhibitor-1B.", "journal": "Journal of molecular biology", "date": "2005", "authors": "Shia S, Stamos J, Kirchhofer D, Fan B, Wu J, Corpuz RT, Santell L, Lazarus RA, Eigenbrot C", "evidence": [ { "database": "Reactome", "id": "R-HSA-6806942", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6806942" } ], "reference": [ { "type": "PubMed", "id": "15713485", "url": "https://glygen.org/publication/PubMed/15713485" } ] }, { "title": "Hepsin activates pro-hepatocyte growth factor and is inhibited by hepatocyte growth factor activator inhibitor-1B (HAI-1B) and HAI-2.", "journal": "FEBS letters", "date": "2005", "authors": "Kirchhofer D, Peek M, Lipari MT, Billeci K, Fan B, Moran P", "evidence": [ { "database": "Reactome", "id": "R-HSA-6806942", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6806942" } ], "reference": [ { "type": "PubMed", "id": "15792801", "url": "https://glygen.org/publication/PubMed/15792801" } ] }, { "title": "Hepatocyte growth factor is a preferred in vitro substrate for human hepsin, a membrane-anchored serine protease implicated in prostate and ovarian cancers.", "journal": "The Biochemical journal", "date": "2005", "authors": "Herter S, Piper DE, Aaron W, Gabriele T, Cutler G, Cao P, Bhatt AS, Choe Y, Craik CS, Walker N, Meininger D, Hoey T, Austin RJ", "evidence": [ { "database": "UniProtKB", "id": "P05981", "url": "https://www.uniprot.org/uniprot/P05981" } ], "reference": [ { "type": "PubMed", "id": "15839837", "url": "https://glygen.org/publication/PubMed/15839837" } ] }, { "title": "Structural basis of hepatocyte growth factor/scatter factor and MET signalling.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2006", "authors": "Gherardi E, Sandin S, Petoukhov MV, Finch J, Youles ME, Ofverstedt LG, Miguel RN, Blundell TL, Vande Woude GF, Skoglund U, Svergun DI", "evidence": [ { "database": "Reactome", "id": "R-HSA-6806942", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6806942" } ], "reference": [ { "type": "PubMed", "id": "16537482", "url": "https://glygen.org/publication/PubMed/16537482" } ] }, { "title": "Identification of the major autophosphorylation site of the Met/hepatocyte growth factor receptor tyrosine kinase.", "journal": "The Journal of biological chemistry", "date": "1991", "authors": "Ferracini R, Longati P, Naldini L, Vigna E, Comoglio PM", "evidence": [ { "database": "Reactome", "id": "R-HSA-6806942", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6806942" } ], "reference": [ { "type": "PubMed", "id": "1655790", "url": "https://glygen.org/publication/PubMed/1655790" } ] }, { "title": "Hepsin, a cell membrane-associated protease. Characterization, tissue distribution, and gene localization.", "journal": "J. Biol. Chem.", "date": "1991", "authors": "Tsuji A, Torres-Rosado A, Arai T, Le Beau MM, Lemons RS, Chou SH, Kurachi K", "evidence": [ { "database": "UniProtKB", "id": "P05981", "url": "https://www.uniprot.org/uniprot/P05981" }, { "database": "Reactome", "id": "R-HSA-6806942", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6806942" } ], "reference": [ { "type": "PubMed", "id": "1885621", "url": "https://glygen.org/publication/PubMed/1885621" } ] }, { "title": "Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry.", "journal": "Journal of proteome research", "date": "2009", "authors": "Chen R, Jiang X, Sun D, Han G, Wang F, Ye M, Wang L, Zou H", "evidence": [ { "database": "UniProtKB", "id": "P05981", "url": "https://www.uniprot.org/uniprot/P05981#ptm_processing" }, { "database": "UniProtKB", "id": "P05981", "url": "https://www.uniprot.org/uniprot/P05981" } ], "reference": [ { "type": "PubMed", "id": "19159218", "url": "https://glygen.org/publication/PubMed/19159218" } ] }, { "title": "Genome-wide association identifies multiple ulcerative colitis susceptibility loci.", "journal": "Nature genetics", "date": "2010", "authors": "McGovern DP, Gardet A, Torkvist L, Goyette P, Essers J, Taylor KD, Neale BM, Ong RT, Lagace C, Li C, Green T, Stevens CR, Beauchamp C, Fleshner PR, Carlson M, D'Amato M, Halfvarson J, Hibberd ML, Lordal M, Padyukov L, Andriulli A, Colombo E, Latiano A, Palmieri O, Bernard EJ, Deslandres C, Hommes DW, de Jong DJ, Stokkers PC, Weersma RK, Sharma Y, Silverberg MS, Cho JH, Wu J, Roeder K, Brant SR, Schumm LP, Duerr RH, Dubinsky MC, Glazer NL, Haritunians T, Ippoliti A, Melmed GY, Siscovick DS, Vasiliauskas EA, Targan SR, Annese V, Wijmenga C, Pettersson S, Rotter JI, Xavier RJ, Daly MJ, Rioux JD, Seielstad M", "evidence": [ { "database": "Reactome", "id": "R-HSA-8852405", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8852405" } ], "reference": [ { "type": "PubMed", "id": "20228799", "url": "https://glygen.org/publication/PubMed/20228799" } ] }, { "title": "The macrophage stimulating protein/Ron pathway as a potential therapeutic target to impede multiple mechanisms involved in breast cancer progression.", "journal": "Current drug targets", "date": "2010", "authors": "Kretschmann KL, Eyob H, Buys SS, Welm AL", "evidence": [ { "database": "Reactome", "id": "R-HSA-8852405", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8852405" } ], "reference": [ { "type": "PubMed", "id": "20545605", "url": "https://glygen.org/publication/PubMed/20545605" } ] }, { "title": "The crystal structure of a constitutively active mutant RON kinase suggests an intramolecular autophosphorylation hypothesis.", "journal": "Biochemistry", "date": "2010", "authors": "Wang J, Steinbacher S, Augustin M, Schreiner P, Epstein D, Mulvihill MJ, Crew AP", "evidence": [ { "database": "Reactome", "id": "R-HSA-8852405", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8852405" } ], "reference": [ { "type": "PubMed", "id": "20726546", "url": "https://glygen.org/publication/PubMed/20726546" } ] }, { "title": "Proteolytic activation of pro-macrophage-stimulating protein by hepsin.", "journal": "Molecular cancer research : MCR", "date": "2011", "authors": "Ganesan R, Kolumam GA, Lin SJ, Xie MH, Santell L, Wu TD, Lazarus RA, Chaudhuri A, Kirchhofer D", "evidence": [ { "database": "UniProtKB", "id": "P05981", "url": "https://www.uniprot.org/uniprot/P05981" }, { "database": "Reactome", "id": "R-HSA-8852405", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8852405" } ], "reference": [ { "type": "PubMed", "id": "21875933", "url": "https://glygen.org/publication/PubMed/21875933" } ] }, { "title": "Protein characterization of a candidate mechanism SNP for Crohn's disease: the macrophage stimulating protein R689C substitution.", "journal": "PloS one", "date": "2011", "authors": "Gorlatova N, Chao K, Pal LR, Araj RH, Galkin A, Turko I, Moult J, Herzberg O", "evidence": [ { "database": "Reactome", "id": "R-HSA-8852405", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8852405" } ], "reference": [ { "type": "PubMed", "id": "22087277", "url": "https://glygen.org/publication/PubMed/22087277" } ] }, { "title": "TMPRSS2 and ADAM17 cleave ACE2 differentially and only proteolysis by TMPRSS2 augments entry driven by the severe acute respiratory syndrome coronavirus spike protein.", "journal": "Journal of virology", "date": "2014", "authors": "Heurich A, Hofmann-Winkler H, Gierer S, Liepold T, Jahn O, Pohlmann S", "evidence": [ { "database": "UniProtKB", "id": "P05981", "url": "https://www.uniprot.org/uniprot/P05981" } ], "reference": [ { "type": "PubMed", "id": "24227843", "url": "https://glygen.org/publication/PubMed/24227843" } ] }, { "title": "Functional consequences of the macrophage stimulating protein 689C inflammatory bowel disease risk allele.", "journal": "PloS one", "date": "2013", "authors": "Kauder SE, Santell L, Mai E, Wright LY, Luis E, N'Diaye EN, Lutman J, Ratti N, Sa SM, Maun HR, Stefanich E, Gonzalez LC, Graham RR, Diehl L, Faubion WA Jr, Keir ME, Young J, Chaudhuri A, Lazarus RA, Egen JG", "evidence": [ { "database": "Reactome", "id": "R-HSA-8852405", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8852405" } ], "reference": [ { "type": "PubMed", "id": "24409221", "url": "https://glygen.org/publication/PubMed/24409221" } ] }, { "title": "Structural basis for the binding specificity of human Recepteur d'Origine Nantais (RON) receptor tyrosine kinase to macrophage-stimulating protein.", "journal": "The Journal of biological chemistry", "date": "2014", "authors": "Chao KL, Gorlatova NV, Eisenstein E, Herzberg O", "evidence": [ { "database": "Reactome", "id": "R-HSA-8852405", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8852405" } ], "reference": [ { "type": "PubMed", "id": "25193665", "url": "https://glygen.org/publication/PubMed/25193665" } ] }, { "title": "The serine protease hepsin 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"https://glygen.org/publication/PubMed/2835076" } ] }, { "title": "Hepsin: a multifunctional transmembrane serine protease in pathobiology.", "journal": "The FEBS journal", "date": "2021", "authors": "Li S, Wang L, Sun S, Wu Q", "evidence": [ { "database": "RefSeq", "id": "NP_002142", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002142" } ], "reference": [ { "type": "PubMed", "id": "33300264", "url": "https://glygen.org/publication/PubMed/33300264" } ] }, { "title": "Silencing of hepsin and inosine 5-monophosphate dehydrogenase 2 by siRNA reduces prostate cancer cells proliferation.", "journal": "The Malaysian journal of pathology", "date": "2022", "authors": "A Wahab N, D Dardar H, Yunus R, M Zainudin Z, M Mokhtar N", "evidence": [ { "database": "RefSeq", "id": "NP_002142", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002142" } ], "reference": [ { "type": "PubMed", "id": "35484884", "url": "https://glygen.org/publication/PubMed/35484884" } ] }, { "title": "Spatial position is a 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"title": "Placental defect and embryonic lethality in mice lacking hepatocyte growth factor/scatter factor.", "journal": "Nature", "date": "1995", "authors": "Uehara Y, Minowa O, Mori C, Shiota K, Kuno J, Noda T, Kitamura N", "evidence": [ { "database": "Reactome", "id": "R-HSA-6806942", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6806942" } ], "reference": [ { "type": "PubMed", "id": "7854453", "url": "https://glygen.org/publication/PubMed/7854453" } ] }, { "title": "Invasiveness and metastasis of NIH 3T3 cells induced by Met-hepatocyte growth factor/scatter factor autocrine stimulation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1994", "authors": "Rong S, Segal S, Anver M, Resau JH, Vande Woude GF", "evidence": [ { "database": "Reactome", "id": "R-HSA-6806942", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6806942" } ], "reference": [ { "type": "PubMed", "id": "8197126", "url": 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"title": "Hepsin, a putative cell-surface serine protease, is required for mammalian cell growth.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1993", "authors": "Torres-Rosado A, O'Shea KS, Tsuji A, Chou SH, Kurachi K", "evidence": [ { "database": "UniProtKB", "id": "P05981", "url": "https://www.uniprot.org/uniprot/P05981" }, { "database": "Reactome", "id": "R-HSA-6806942", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6806942" } ], "reference": [ { "type": "PubMed", "id": "8346233", "url": "https://glygen.org/publication/PubMed/8346233" } ] }, { "title": "Hepatocyte growth factor activator inhibitor, a novel Kunitz-type serine protease inhibitor.", "journal": "The Journal of biological chemistry", "date": "1997", "authors": "Shimomura T, Denda K, Kitamura A, Kawaguchi T, Kito M, Kondo J, Kagaya S, Qin L, Takata H, Miyazawa K, Kitamura N", "evidence": [ { "database": "Reactome", "id": "R-HSA-6806942", "url": 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"Macrophage stimulating protein (MSP) binds to its receptor via the MSP beta chain.", "journal": "The Journal of biological chemistry", "date": "1997", "authors": "Wang MH, Julian FM, Breathnach R, Godowski PJ, Takehara T, Yoshikawa W, Hagiya M, Leonard EJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-8852405", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8852405" } ], "reference": [ { "type": "PubMed", "id": "9202013", "url": "https://glygen.org/publication/PubMed/9202013" } ] }, { "title": "Purification and cloning of hepatocyte growth factor activator inhibitor type 2, a Kunitz-type serine protease inhibitor.", "journal": "The Journal of biological chemistry", "date": "1997", "authors": "Kawaguchi T, Qin L, Shimomura T, Kondo J, Matsumoto K, Denda K, Kitamura N", "evidence": [ { "database": "Reactome", "id": "R-HSA-6806942", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6806942" } ], "reference": [ { "type": "PubMed", "id": "9346890", "url": "https://glygen.org/publication/PubMed/9346890" } ] }, { "title": "Mode of receptor binding and activation by plasminogen-related growth factors.", "journal": "FEBS letters", "date": "1998", "authors": "Miller M, Leonard EJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-8852405", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8852405" } ], "reference": [ { "type": "PubMed", "id": "9657372", "url": "https://glygen.org/publication/PubMed/9657372" } ] } ], "pathway": [ { "id": "hsa:3249", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:3249", "resource": "KEGG Pathway" }, { "id": "R-HSA-6806942", "name": "MET Receptor Activation", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6806942", "resource": "Reactome", "description": "MET Receptor Activation" }, { "id": "R-HSA-8852405", "name": "Signaling by MST1", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8852405", "resource": "Reactome", "description": "Signaling by MST1" } ], "orthologs": [ { "uniprot_canonical_ac": "O35453-1", "protein_name": "Serine protease hepsin", "gene_name": "Hpn", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MAKEDEEPGAHRGGSTCSRPQPGKGGRTAACCSRPKVAALIVGTLLFLTGIGAASWAIVTILLQSDQEPLYQVQLSPGDSRLAVFDKTEGTWRLLCSSRSNARVAGLGCEEMGFLRALAHSELDVRTAGANGTSGFFCVDEGGLPLAQRLLDVISVCDCPRGRFLTATCQDCGRRKLPVDRIVGGQDSSLGRWPWQVSLRYDGTHLCGGSLLSGDWVLTAAHCFPERNRVLSRWRVFAGAVARTSPHAVQLGVQAVIYHGGYLPFRDPTIDENSNDIALVHLSSSLPLTEYIQPVCLPAAGQALVDGKVCTVTGWGNTQFYGQQAMVLQEARVPIISNEVCNSPDFYGNQIKPKMFCAGYPEGGIDACQGDSGGPFVCEDSISGTSRWRLCGIVSWGTGCALARKPGVYTKVTDFREWIFKAIKTHSEASGMVTQP", "length": 436 }, "evidence": [ { "id": "45932070", "url": "http://www.informatics.jax.org/homology/45932070", "database": "MGI" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "Q05511-1", "protein_name": "Serine protease hepsin", "gene_name": "Hpn", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": 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hormone", "id": "GO:0097066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097066", "evidence": [ { "database": "UniProtKB", "id": "P05981", "url": "https://www.uniprot.org/uniprot/P05981" } ], "pmid": "" }, { "name": "pilomotor reflex", "id": "GO:0097195", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097195", "evidence": [ { "database": "UniProtKB", "id": "P05981", "url": "https://www.uniprot.org/uniprot/P05981" } ], "pmid": "" }, { "name": "positive regulation of thyroid hormone generation", "id": "GO:2000611", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000611", "evidence": [ { "database": "UniProtKB", "id": "P05981", "url": "https://www.uniprot.org/uniprot/P05981" } ], "pmid": "" }, { "name": "positive regulation by host of viral transcription", "id": "GO:0043923", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043923", "evidence": [ { "database": "UniProtKB", "id": "P05981", "url": "https://www.uniprot.org/uniprot/P05981" } ], "pmid": "" }, { "name": "potassium ion transmembrane transport", "id": "GO:0071805", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071805", "evidence": [ { "database": "UniProtKB", "id": "P05981", "url": "https://www.uniprot.org/uniprot/P05981" } ], "pmid": "" }, { "name": "negative regulation of epithelial to mesenchymal transition", "id": "GO:0010719", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010719", "evidence": [ { "database": "UniProtKB", "id": "P05981", "url": "https://www.uniprot.org/uniprot/P05981" } ], "pmid": "" }, { "name": "basement membrane disassembly", "id": "GO:0034769", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034769", "evidence": [ { "database": "UniProtKB", "id": "P05981", "url": "https://www.uniprot.org/uniprot/P05981" } ], "pmid": "" }, { "name": "cochlea morphogenesis", "id": "GO:0090103", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090103", "evidence": [ { "database": "UniProtKB", "id": "P05981", "url": "https://www.uniprot.org/uniprot/P05981" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 4, "go_terms": [ { "name": "serine-type endopeptidase activity", "id": "GO:0004252", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004252", "evidence": [ { "database": "UniProtKB", "id": "P05981", "url": "https://www.uniprot.org/uniprot/P05981" } ], "pmid": "" }, { "name": "peptidase activity", "id": "GO:0008233", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008233", "evidence": [ { "database": "UniProtKB", "id": "P05981", "url": "https://www.uniprot.org/uniprot/P05981" } ], "pmid": "" }, { "name": "serine-type peptidase activity", "id": "GO:0008236", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008236", "evidence": [ { "database": "UniProtKB", "id": "P05981", "url": "https://www.uniprot.org/uniprot/P05981" } ], "pmid": "" }, { "name": "serine-type exopeptidase activity", "id": "GO:0070008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070008", "evidence": [ { "database": "UniProtKB", "id": "P05981", "url": "https://www.uniprot.org/uniprot/P05981" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 8, "go_terms": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P05981", "url": "https://www.uniprot.org/uniprot/P05981" } ], "pmid": "" }, { "name": "cell-cell junction", "id": "GO:0005911", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005911", "evidence": [ { "database": "UniProtKB", "id": "P05981", "url": "https://www.uniprot.org/uniprot/P05981" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "P05981", "url": "https://www.uniprot.org/uniprot/P05981" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P05981", "url": "https://www.uniprot.org/uniprot/P05981" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "P05981", "url": "https://www.uniprot.org/uniprot/P05981" } ], "pmid": "" }, { "name": "extracellular exosome", "id": "GO:0070062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070062", "evidence": [ { "database": "UniProtKB", "id": "P05981", "url": "https://www.uniprot.org/uniprot/P05981" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "P05981", "url": "https://www.uniprot.org/uniprot/P05981" } ], "pmid": "" }, { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "P05981", "url": "https://www.uniprot.org/uniprot/P05981" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 112, "end_pos": 114, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "R-HSA-6800198", "name": "HPN heterodimer cleaves pro-MST1 to form MST1 dimer", "equation": "", "summary": "Hepsin (HPN, aka TMPRSS1) is a cell surface-expressed chymotrypsin-like serine protease and a member of the family of type II transmembrane serine proteases (TTSP). The HPN zymogen is activated autocatalytically by cleavage at Arg162\u2013Ile163, forming a heterodimeric enzyme (Tsuji et al. 1991, Torres-Rosado et al. 1993). HPN plays an essential role in cell growth and maintenance of cell morphology and is highly upregulated in prostate cancer and promotes tumor progression and metastasis. Located on the cell surface, HPN can activate fibrinolytic enzymes, matrix metalloproteases and latent forms of growth factors such as hepatocyte growth factor-like protein (MST1, aka macrophage stimulatory protein, MSP). MST1 is a plasminogen-related growth factor and ligand for the receptor tyrosine kinase (MST1R, RON). The MST1/MST1R (MSP/RON) signaling system promotes wound healing and invasive tumor growth and suppresses proinflammatory immune response. For MST1 to bind MST1R, the inactive single-chain form (pro-MST1) must be cleaved into the disulfide-linked alpha-beta heterodimer by HPN (Ganesan et al. 2011). The Kunitz-type protease inhibitors 1 and 2 (SPINT1 and 2, aka HAI1 and 2) are inhibitors of HPN activity (Kirchhofer et al. 2005).

The non-synonymous coding variant in MST1 (R689C) has been associated with genetic susceptibility to both Crohn's disease and ulcerative colitis, two major types of inflammatory bowel disease (IBD). The R689C variant reduces the amount of circulating MST1 thereby reducing MST1R activity and down-regulation of the MST1/MST1R signaling pathway (McGovern et al. 2010, Gorlatova et al. 2011, Kauder et al. 2013).", "cellular_location": "extracellular region, plasma membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P05981-1" ], "evidence": [ { "id": "R-HSA-6800198", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6800198" } ] }, { "id": "R-HSA-6800200", "name": "HPN heterodimer cleaves pro-HGF to form HGF dimer", "equation": "", "summary": "Hepsin (HPN, aka TMPRSS1) is a cell surface-expressed chymotrypsin-like serine protease and a member of the family of type II transmembrane serine proteases (TTSP). The HPN zymogen is activated autocatalytically by cleavage at Arg162-Ile163, forming a heterodimeric enzyme (Tsuji et al. 1991, Torres-Rosado et al. 1993). HPN plays an essential role in cell growth and maintenance of cell morphology and is highly upregulated in prostate cancer and promotes tumor progression and metastasis (Klezovitch et al. 2004). Located on the cell surface, HPN can activate fibrinolytic enzymes, matrix metalloproteases and latent forms of growth factors, such as hepatocyte growth factor (HGF). HGF is a pleiotropic factor and activates hepatocyte growth factor receptor (MET). HGF is secreted into the extracellular matrix as an inactive single chain precursor (pro-HGF (32-728)) and requires cleavage at Arg494\u2013Val495 to form the biologically active alpha-beta heterodimer (Hartmann et al. 1992, Kirchhofer et al. 2005). The Kunitz-type protease inhibitors 1 and 2 (SPINT1 and 2, aka HAI1 and 2) are inhibitors of HPN activity (Kawaguchi et al. 1997, Shimomoura et al. 1997, Kirchhofer et al. 2005).", "cellular_location": "extracellular region, plasma membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P05981-1" ], "evidence": [ { "id": "R-HSA-6800200", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6800200" } ] } ], "reaction_participants": [], "reaction_enzymes": [ { "uniprot_ac": "P05981", "gene_name": "HPN", "activity": [ { "ec_number": "3.4.21.106", "activity": "Cleavage after basic amino-acid residues, with Arg strongly preferred to Lys.", "evidence": [ { "id": "P05981", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P05981" } ] }, { "ec_number": "3.4.21.106", "activity": "", "evidence": [ { "id": "P05981", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P05981" } ] } ] } ], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" } ], "sequence_features": { "n_linked_sites": [ 112 ], "o_linked_sites": [], "snv_sites": [ 112, 114, 162, 325 ], "glycation_sites": [], "phosphorylation_sites": [], "sequon_annotation_sites": [ { "start_pos": 112, "end_pos": 114 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 4 }, { "field": "total_sites", "count": 4 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 2 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 2 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 43 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }