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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 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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": "" }, { "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", "ebi", "germline" ] }, { "evidence": [ { "id": "A6BM72", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A6BM72" } ], "glycoeffect": [], "start_pos": 67, "end_pos": 67, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "W", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "15", "chr_pos": "66123900", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R67", "disease": [ { "disease_id": "DOID:2394", "recommended_name": { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "ovarian cancer", "description": "A female reproductive organ cancer that is located_in the ovary." }, "synonyms": [ { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "malignant Ovarian tumor", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "malignant tumour of ovary", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "ovarian neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "ovary neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "primary ovarian cancer", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "tumor of the Ovary", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", 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Most primary malignant ovarian neoplasms are either carcinomas (serous, mucinous, or endometrioid adenocarcinomas) or malignant germ cell tumors. Metastatic malignant neoplasms to the ovary include carcinomas, lymphomas, and melanomas." }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovary neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumor of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumour of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "cancer of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "cancer of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant neoplasm of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant neoplasm of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian tumor", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian tumour", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovary neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumor of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumor of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumour of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumour of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian 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"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", 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"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": 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"MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, 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"https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "A6BM72", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A6BM72" } ], "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 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"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", 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"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": 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"" }, { "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": 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"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 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"MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "A6BM72", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A6BM72" } ], "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": "A6BM72", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A6BM72" } ], "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": "A6BM72", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A6BM72" } ], "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": "A6BM72", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A6BM72" } ], "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": 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"name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "A6BM72", "url": "https://www.uniprot.org/uniprot/A6BM72" } ], "common_name": "Human" } ], "gene": [ { "name": "MEGF11", "url": "https://www.uniprot.org/uniprot/A6BM72", "locus": { "chromosome": "15", "start_pos": 65895079, "end_pos": 66253756, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000157890", "url": "https://www.ensembl.org/id/ENSG00000157890" } ] } } ], "crossref": [ { "id": "ENSG00000157890", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000157890", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "A6BM72", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A6BM72", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "cd00055", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd00055", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "MEGF11", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=MEGF11", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "84465", "url": "https://www.ncbi.nlm.nih.gov/gene/84465", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "29635", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=29635", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "A6BM72", "url": "https://www.ebi.ac.uk/intact/interactors/id:A6BM72*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR000742", "url": "https://www.ebi.ac.uk/interpro/entry/IPR000742", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR002049", "url": "https://www.ebi.ac.uk/interpro/entry/IPR002049", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR011489", "url": "https://www.ebi.ac.uk/interpro/entry/IPR011489", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR013032", "url": "https://www.ebi.ac.uk/interpro/entry/IPR013032", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR042635", "url": "https://www.ebi.ac.uk/interpro/entry/IPR042635", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:84465", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:84465", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "612454", "url": "http://www.omim.org/entry/612454", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_A6BM72", "url": "https://www.nextprot.org/entry/NX_A6BM72", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "DSCGPKG", "url": "https://omabrowser.org/oma/group/DSCGPKG/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "2540323at2759", "url": "http://www.orthodb.org/?query=2540323at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR24035", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR24035", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR24035:SF127", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR24035:SF127", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR24043", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR24043", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR24052", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR24052", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR24052:SF8", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR24052:SF8", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF00053", "url": "http://pfam.xfam.org/family/PF00053", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF12661", "url": "http://pfam.xfam.org/family/PF12661", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "A6BM72", "url": "https://pharos.nih.gov/targets/A6BM72", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_A6BM72", "url": "http://purl.obolibrary.org/obo/PR_A6BM72", "database": "PRO", "categories": [ "Protein" ] }, { "id": "NP_115821", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_115821", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "A0A087WT97", "url": "https://www.uniprot.org/uniprot/A0A087WT97", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A087WT97-1", "url": "https://www.uniprot.org/uniprot/A0A087WT97-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A087X003", "url": "https://www.uniprot.org/uniprot/A0A087X003", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A087X003-1", "url": "https://www.uniprot.org/uniprot/A0A087X003-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0A0MS64", "url": "https://www.uniprot.org/uniprot/A0A0A0MS64", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0A0MS64-1", "url": "https://www.uniprot.org/uniprot/A0A0A0MS64-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0G2JLW8", "url": "https://www.uniprot.org/uniprot/A0A0G2JLW8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0G2JLW8-1", "url": "https://www.uniprot.org/uniprot/A0A0G2JLW8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0G2JMV8", "url": "https://www.uniprot.org/uniprot/A0A0G2JMV8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0G2JMV8-1", "url": "https://www.uniprot.org/uniprot/A0A0G2JMV8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0G2JN40", "url": "https://www.uniprot.org/uniprot/A0A0G2JN40", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0G2JN40-1", "url": "https://www.uniprot.org/uniprot/A0A0G2JN40-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A6BM72", "url": "https://www.uniprot.org/uniprot/A6BM72", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A6BM72-1", "url": "https://www.uniprot.org/uniprot/A6BM72-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A6BM72-2", "url": "https://www.uniprot.org/uniprot/A6BM72-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A6BM72-3", "url": "https://www.uniprot.org/uniprot/A6BM72-3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A6BM72-4", "url": "https://www.uniprot.org/uniprot/A6BM72-4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JYE7", "url": "https://www.uniprot.org/uniprot/C9JYE7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JYE7-1", "url": "https://www.uniprot.org/uniprot/C9JYE7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BR81", "url": "https://www.uniprot.org/uniprot/H3BR81", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BR81-1", "url": "https://www.uniprot.org/uniprot/H3BR81-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MVLSLTGLIAFSFLQATLALNPEDPNVCSHWESYAVTVQESYAHPFDQIYYTRCTDILNWFKCTRHRISYKTAYRRGLRTMYRRRSQCCPGYYESGDFCIPLCTEECVHGRCVSPDTCHCEPGWGGPDCSSGCDSDHWGPHCSNRCQCQNGALCNPITGACVCAAGFRGWRCEELCAPGTHGKGCQLPCQCRHGASCDPRAGECLCAPGYTGVYCEELCPPGSHGAHCELRCPCQNGGTCHHITGECACPPGWTGAVCAQPCPPGTFGQNCSQDCPCHHGGQCDHVTGQCHCTAGYMGDRCQEECPFGSFGFQCSQHCDCHNGGQCSPTTGACECEPGYKGPRCQERLCPEGLHGPGCTLPCPCDADNTISCHPVTGACTCQPGWSGHHCNESCPVGYYGDGCQLPCTCQNGADCHSITGGCTCAPGFMGEVCAVSCAAGTYGPNCSSICSCNNGGTCSPVDGSCTCKEGWQGLDCTLPCPSGTWGLNCNESCTCANGAACSPIDGSCSCTPGWLGDTCELPCPDGTFGLNCSEHCDCSHADGCDPVTGHCCCLAGWTGIRCDSTCPPGRWGPNCSVSCSCENGGSCSPEDGSCECAPGFRGPLCQRICPPGFYGHGCAQPCPLCVHSSRPCHHISGICECLPGFSGALCNQVCAGGYFGQDCAQLCSCANNGTCSPIDGSCQCFPGWIGKDCSQACPPGFWGPACFHACSCHNGASCSAEDGACHCTPGWTGLFCTQRCPAAFFGKDCGRVCQCQNGASCDHISGKCTCRTGFTGQHCEQRCAPGTFGYGCQQLCECMNNSTCDHVTGTCYCSPGFKGIRCDQAALMMEELNPYTKISPALGAERHSVGAVTGIMLLLFLIVVLLGLFAWHRRRQKEKGRDLAPRVSYTPAMRMTSTDYSLSGACGMDRRQNTYIMDKGFKDYMKESVCSSSTCSLNSSENPYATIKDPPILTCKLPESSYVEMKSPVHMGSPYTDVPSLSTSNKNIYEVEPTVSVVQEGCGHNSSYIQNAYDLPRNSHIPGHYDLLPVRQSPANGPSQDKQS", "length": 1044, "header": "sp|A6BM72-1|MEG11_HUMAN Isoform 1 of Multiple epidermal growth factor-like domains protein 11 OS=Homo sapiens OX=9606 GN=MEGF11 PE=1 SV=3 CANONICAL=A6BM72-1" }, "isoforms": [ { "isoform_ac": "A0A087WT97-1", "url": "", "sequence": { "sequence": "XCLPGFSGALCNQASKWQKQILIPTCMLKG", "length": 30, "header": "tr|A0A087WT97-1|A0A087WT97_HUMAN Computationally mapped isoform of Multiple epidermal growth factor-like domains protein 11 OS=Homo sapiens OX=9606 GN=MEGF11 PE=4 SV=1 CANONICAL=A6BM72-1" }, "locus": { "chromosome": "15", "start_pos": 65922375, "end_pos": 65922056, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000564573.1", "url": "https://www.ensembl.org/id/ENST00000564573.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000477691.1", "url": "https://www.ensembl.org/id/ENSP00000477691.1" } ] } }, { "isoform_ac": "A0A087X003-1", "url": "", "sequence": { "sequence": "XWTPYSYVNVLDQCPGGQVPARGLLH", "length": 26, "header": "tr|A0A087X003-1|MEG11_HUMAN Computationally mapped isoform of Multiple epidermal growth factor-like domains protein 11 OS=Homo sapiens OX=9606 GN=MEGF11 PE=1 SV=1 CANONICAL=A6BM72-1" }, "locus": { "chromosome": "15", "start_pos": 65909771, "end_pos": 65909076, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000562154.5", "url": "https://www.ensembl.org/id/ENST00000562154.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000483007.1", "url": "https://www.ensembl.org/id/ENSP00000483007.1" } ] } }, { "isoform_ac": "A0A0A0MS64-1", "url": "", "sequence": { "sequence": "MVLSLTGLIAFSFLQATLALNPEDPNVCSHWESYAVTVQESYAHPFDQIYYTRCTDILNWFKCTRHRISYKTAYRRGLRTMYRRRSQCCPGYYESGDFCIPLCTEECVHGRCVSPDTCHCEPGWGGPDCSSGCDSDHWGPHCSNRCQCQNGALCNPITGACVCAAGFRGWRCEELCAPGTHGKGCQLPCQCRHGASCDPRAGECLCAPGYTGVYCEELCPPGSHGAHCELRCPCQNGGTCHHITGECACPPGWTGAVCAQPCPPGTFGQNCSQDCPCHHGGQCDHVTGQCHCTAGYMGDRCQEECPFGSFGFQCSQHCDCHNGGQCSPTTGACECEPGYKGPRCQERLCPEGLHGPGCTLPCPCDADNTISCHPVTGACTCQPGWSGHHCNESCPVGYYGDGCQLPCTCQNGADCHSITGGCTCAPGFMGEVCAVSCAAGTYGPNCSSICSCNNGGTCSPVDGSCTCKEGWQGLDCTLPCPSGTWGLNCNESCTCANGAACSPIDGSCSCTPGWLGDTCELPCPDGTFGLNCSEHCDCSHADGCDPVTGHCCCLAGWTGIRCDSTCPPGRWGPNCSVSCSCENGGSCSPEDGSCECAPGFRGPLCQRICPPGFYGHGCAQPCPLCVHSSRPCHHISGICECLPGFSGALCNQVCAGGYFGQDCAQLCSCANNGTCSPIDGSCQCFPGWIGKDCSQACPPGFWGPACFHACSCHNGASCSAEDGACHCTPGWTGLFCTQRCPAAFFGKDCGRVCQCQNGASCDHISGKCTCRTGFTGQHCEQRCAPGTFGYGCQQLCECMNNSTCDHVTGTCYCSPGFKGIRCDQAALMMEELNPYTKISPALGAERHSVGAVTGIMLLLFLIVVLLGLFAWHRRRQKEKGRDLAPRVSYTPAMRMTSTDYSLSDLSQSSSHAHCFSNSSYHALACGGPATSQASTLDRNSPTKLSNKSLDRDTAGWTPYSYVNVLDSHFQISALEARYPPEDFYIELRHLSRPAEPHSPGACGMDRRQNTYIMDKGFKDYMKESVCSSSTCSLNSSENPYATIKDPPILTCKLPESSYVEMKSPVHMGSPYTDVPSLSTSNKNIYEVEPTVSVVQEGCGHNSSYIQNAYDLPRNSHIPGHYDLLPVRQSPANGPSQDKQS", "length": 1140, "header": "tr|A0A0A0MS64-1|MEG11_HUMAN Computationally mapped isoform of Multiple epidermal growth factor-like domains protein 11 OS=Homo sapiens OX=9606 GN=MEGF11 PE=1 SV=1 CANONICAL=A6BM72-1" }, "locus": { "chromosome": "15", "start_pos": 66128403, "end_pos": 65897937, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000395614.6", "url": "https://www.ensembl.org/id/ENST00000395614.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000378976.2", "url": "https://www.ensembl.org/id/ENSP00000378976.2" } ] } }, { "isoform_ac": "A0A0G2JLW8-1", "url": "", "sequence": { "sequence": "MHTPSIRSITHDAQTSSTGSSAPGTALCTEECVHGRCVSPDTCHCEPGWGGPDCSSGCDSDHWGPHCSNRCQCQNGALCNPITGACVCAAGFRGWRCEELCAPGTHGKGCQLPCQCRHGASCDPRAGECLCAPGYTGVYCEELCPPGSHGAHCELRCPCQNGGTCHHITGECACPPGWTGAVCAQPCPPGTFGQNCSQDCPCHHGGQCDHVTGQCHCTAGYMGDRCQEECPFGSFGFQCSQHCDCHNGGQCSPTTGACECEPGYKGPRCQERLCPEGLHGPGCTLPCPCDADNTISCHPVTGACTCQPGWSGHHCNESCPVGYYGDGCQLPCTCQNGADCHSITGGCTCAPGFMGEVCAVSCAAGTYGPNCSSICSCNNGGTCSPVDGSCTCKEGWQGLDCTLPCPSGTWGLNCNESCTCANGAACSPIDGSCSCTPGWLGDTCELPCPDGTFGLNCSEHCDCSHADGCDPVTGHCCCLAGWTGIRCDSTCPPGRWGPNCSVSCSCENGGSCSPEDGSCECAPGFRGPLCQRICPPGFYGHGCAQPCPLCVHSSRPCHHISGICECLPGFSGALCNQVCAGGYFGQDCAQLCSCANNGTCSPIDGSCQCFPGWIGKDCSQACPPGFWGPACFHACSCHNGASCSAEDGACHCTPGWTGLFCTQRCPAAFFGKDCGRVCQCQNGASCDHISGKCTCRTGFTGQHCEQRCAPGTFGYGCQQLCECMNNSTCDHVTGTCYCSPGFKGIRCDQAALMMEELNPYTKISPALGAERHSVGAVTGIMLLLFLIVVLLGLFAWHRRRQKEKGRDLAPRVSYTPAMRMTSTDYSLS", "length": 828, "header": "tr|A0A0G2JLW8-1|A0A0G2JLW8_HUMAN Computationally mapped isoform of Multiple epidermal growth factor-like domains protein 11 OS=Homo sapiens OX=9606 GN=MEGF11 PE=4 SV=1 CANONICAL=A6BM72-1" }, "locus": { "chromosome": "HSCHR15_2_CTG8", "start_pos": 227929, "end_pos": 5556, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000615866.4", "url": "https://www.ensembl.org/id/ENST00000615866.4" }, { "database": "Ensembl Peptide", "id": "ENSP00000478094.1", "url": "https://www.ensembl.org/id/ENSP00000478094.1" } ] } }, { "isoform_ac": "A0A0G2JMV8-1", "url": "", "sequence": { "sequence": "GAVCAQPCPPGTFGQNCSQDCPCHHGGQCDHVTGQCHCTAGYMGDRCQEECPFGSFGFQCSQHCDCHNGGQCSPTTGACECEPGYKGPRCQERLCPEGLHGPGCTLPCPCDADNTISCHPVTGACTCQPGWSGHHCNESCPVGYYGDGCQLPCTCQNGADCHSITGGCTCAPGFMGEVCAVSCAAGTYGPNCSSICSCNNGGTCSPVDGSCTCKEGWQGLDCTLPCPSGTWGLNCNESCTCANGAACSPIDGSCSCTPGWLGDTCELPCPDGTFGLNCSEHCDCSHADGCDPVTGHCCCLAGWTGIRCDSTCPPGRWGPNCSVSCSCENGGSCSPEDGSCECAPGFRGPLCQRICPPGFYGHGCAQPCPLCVHSSRPCHHISGICECLPGFSGALCNQVCAGGYFGQDCAQLCSCANNGTCSPIDGSCQCFPGWIGKDCSQACPPGFWGPACFHACSCHNGASCSAEDGACHCTPGWTGLFCTQRKPHLLASQPLRIPCCGLLATVGIVQTSREGGMQAAPGLVVPDSCPTRTEELCRGSSRPDWIQGIDKPKVLEGQGCKAAQQHFLGRTVGAYASVRMAPAVTTSVASAPAAQASPGNTVSRDVPQEPLAMGVSSYVSA", "length": 621, "header": "tr|A0A0G2JMV8-1|MEG11_HUMAN Computationally mapped isoform of Multiple epidermal growth factor-like domains protein 11 OS=Homo sapiens OX=9606 GN=MEGF11 PE=1 SV=1 CANONICAL=A6BM72-1" }, "locus": { "chromosome": "HSCHR15_2_CTG8", "start_pos": 62507, "end_pos": 7366, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000614417.4", "url": "https://www.ensembl.org/id/ENST00000614417.4" }, { "database": "Ensembl Peptide", "id": "ENSP00000480105.1", "url": "https://www.ensembl.org/id/ENSP00000480105.1" } ] } }, { "isoform_ac": "A0A0G2JN40-1", "url": "", "sequence": { "sequence": "MVLSLTGLIAFSFLQATLALNPEDPNVCSHWESYAVTVQESYAHPFDQIYYTRCTDILNWFKCTRHRISYKTAYRRGLRTMYRRRSQCCPGYYESGDFCIPLCTEECVHGRCVSPDTCHCEPGWGGPDCSSGCDSDHWGPHCSNRCQCQNGALCNPITGACVCAAGFRGWRCEELCAPGTHGKGCQLPCQCRHGASCDPRAGECLCAPGYTGVYCEELCPPGSHGAHCELRCPCQNGGTCHHITGECACPPGWTGAVCAQPCPPGTFGQNCSQDCPCHHGGQCDHVTGQCHCTAGYMGDRCQEECPFGSFGFQCSQHCDCHNGGQCSPTTGACECEPGYKGPRCQERLCPEGLHGPGCTLPCPCDADNTISCHPVTGACTCQPGWSGHHCNESCPVGYYGDGCQLPCTCQNGADCHSITGGCTCAPGFMGEVCAVSCAAGTYGPNCSSICSCNNGGTCSPVDGSCTCKEGWQGLDCTLPCPSGTWGLNCNESCTCANGAACSPIDGSCSCTPGWLGDTCELPCPDGTFGLNCSEHCDCSHADGCDPVTGHCCCLAGWTGIRCDSTCPPGRWGPNCSVSCSCENGGSCSPEDGSCECAPGFRGPLCQRICPPGFYGHGCAQPCPLCVHSSRPCHHISGICECLPGFSGALCNQVCAGGYFGQDCAQLCSCANNGTCSPIDGSCQCFPGWIGKDCSQACPPGFWGPACFHACSCHNGASCSAEDGACHCTPGWTGLFCTQRCPAAFFGKDCGRVCQCQNGASCDHISGKCTCRTGFTGQHCEQRCAPGTFGYGCQQLCECMNNSTCDHVTGTCYCSPGFKGIRCDQAALMMEELNPYTKISPALGAERHSVGAVTGIMLLLFLIVVLLGLFAWHRRRQKEKGRDLAPRVSYTPAMRMTSTDYSLS", "length": 903, "header": "tr|A0A0G2JN40-1|MEG11_HUMAN Computationally mapped isoform of Multiple epidermal growth factor-like domains protein 11 OS=Homo sapiens OX=9606 GN=MEGF11 PE=1 SV=1 CANONICAL=A6BM72-1" }, "locus": { "chromosome": "HSCHR15_2_CTG8", "start_pos": 232358, "end_pos": 5556, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000614717.1", "url": "https://www.ensembl.org/id/ENST00000614717.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000480614.1", "url": "https://www.ensembl.org/id/ENSP00000480614.1" } ] } }, { "isoform_ac": "A6BM72-1", "url": "", "sequence": { "sequence": "MVLSLTGLIAFSFLQATLALNPEDPNVCSHWESYAVTVQESYAHPFDQIYYTRCTDILNWFKCTRHRISYKTAYRRGLRTMYRRRSQCCPGYYESGDFCIPLCTEECVHGRCVSPDTCHCEPGWGGPDCSSGCDSDHWGPHCSNRCQCQNGALCNPITGACVCAAGFRGWRCEELCAPGTHGKGCQLPCQCRHGASCDPRAGECLCAPGYTGVYCEELCPPGSHGAHCELRCPCQNGGTCHHITGECACPPGWTGAVCAQPCPPGTFGQNCSQDCPCHHGGQCDHVTGQCHCTAGYMGDRCQEECPFGSFGFQCSQHCDCHNGGQCSPTTGACECEPGYKGPRCQERLCPEGLHGPGCTLPCPCDADNTISCHPVTGACTCQPGWSGHHCNESCPVGYYGDGCQLPCTCQNGADCHSITGGCTCAPGFMGEVCAVSCAAGTYGPNCSSICSCNNGGTCSPVDGSCTCKEGWQGLDCTLPCPSGTWGLNCNESCTCANGAACSPIDGSCSCTPGWLGDTCELPCPDGTFGLNCSEHCDCSHADGCDPVTGHCCCLAGWTGIRCDSTCPPGRWGPNCSVSCSCENGGSCSPEDGSCECAPGFRGPLCQRICPPGFYGHGCAQPCPLCVHSSRPCHHISGICECLPGFSGALCNQVCAGGYFGQDCAQLCSCANNGTCSPIDGSCQCFPGWIGKDCSQACPPGFWGPACFHACSCHNGASCSAEDGACHCTPGWTGLFCTQRCPAAFFGKDCGRVCQCQNGASCDHISGKCTCRTGFTGQHCEQRCAPGTFGYGCQQLCECMNNSTCDHVTGTCYCSPGFKGIRCDQAALMMEELNPYTKISPALGAERHSVGAVTGIMLLLFLIVVLLGLFAWHRRRQKEKGRDLAPRVSYTPAMRMTSTDYSLSGACGMDRRQNTYIMDKGFKDYMKESVCSSSTCSLNSSENPYATIKDPPILTCKLPESSYVEMKSPVHMGSPYTDVPSLSTSNKNIYEVEPTVSVVQEGCGHNSSYIQNAYDLPRNSHIPGHYDLLPVRQSPANGPSQDKQS", "length": 1044, "header": "sp|A6BM72-1|MEG11_HUMAN Isoform 1 of Multiple epidermal growth factor-like domains protein 11 OS=Homo sapiens OX=9606 GN=MEGF11 PE=1 SV=3 CANONICAL=A6BM72-1" }, "locus": { "chromosome": "15", "start_pos": 66128403, "end_pos": 65897937, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000409699.6", "url": "https://www.ensembl.org/id/ENST00000409699.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000386908.2", "url": "https://www.ensembl.org/id/ENSP00000386908.2" } ] } }, { "isoform_ac": "A6BM72-2", "url": "", "sequence": { "sequence": "MHTPSIRSITHDAQTSSTGSSAPGTALCTEECVHGRCVSPDTCHCEPGWGGPDCSSGCDSDHWGPHCSNRCQCQNGALCNPITGACVCAAGFRGWRCEELCAPGTHGKGCQLPCQCRHGASCDPRAGECLCAPGYTGVYCEELCPPGSHGAHCELRCPCQNGGTCHHITGECACPPGWTGAVCAQPCPPGTFGQNCSQDCPCHHGGQCDHVTGQCHCTAGYMGDRCQEECPFGSFGFQCSQHCDCHNGGQCSPTTGACECEPGYKGPRCQERLCPEGLHGPGCTLPCPCDADNTISCHPVTGACTCQPGWSGHHCNESCPVGYYGDGCQLPCTCQNGADCHSITGGCTCAPGFMGEVCAVSCAAGTYGPNCSSICSCNNGGTCSPVDGSCTCKEGWQGLDCTLPCPSGTWGLNCNESCTCANGAACSPIDGSCSCTPGWLGDTCELPCPDGTFGLNCSEHCDCSHADGCDPVTGHCCCLAGWTGIRCDSTCPPGRWGPNCSVSCSCENGGSCSPEDGSCECAPGFRGPLCQRICPPGFYGHGCAQPCPLCVHSSRPCHHISGICECLPGFSGALCNQVCAGGYFGQDCAQLCSCANNGTCSPIDGSCQCFPGWIGKDCSQACPPGFWGPACFHACSCHNGASCSAEDGACHCTPGWTGLFCTQRCPAAFFGKDCGRVCQCQNGASCDHISGKCTCRTGFTGQHCEQRCAPGTFGYGCQQLCECMNNSTCDHVTGTCYCSPGFKGIRCDQAALMMEELNPYTKISPALGAERHSVGAVTGIMLLLFLIVVLLGLFAWHRRRQKEKGRDLAPRVSYTPAMRMTSTDYSLSGACGMDRRQNTYIMDKGFKDYMKESVCSSSTCSLNSSENPYATIKDPPILTCKLPESSYVEMKSPVHMGSPYTDVPSLSTSNKNIYEVEPTVSVVQEGCGHNSSYIQNAYDLPRNSHIPGHYDLLPVRQSPANGPSQDKQS", "length": 969, "header": "sp|A6BM72-2|MEG11_HUMAN Isoform 2 of Multiple epidermal growth factor-like domains protein 11 OS=Homo sapiens OX=9606 GN=MEGF11 PE=1 SV=3 CANONICAL=A6BM72-1" }, "locus": { "chromosome": "15", "start_pos": 66123974, "end_pos": 65897937, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000288745.7", "url": "https://www.ensembl.org/id/ENST00000288745.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000288745.3", "url": "https://www.ensembl.org/id/ENSP00000288745.3" } ] } }, { "isoform_ac": "A6BM72-3", "url": "", "sequence": { "sequence": "MVLSLTGLIAFSFLQATLALNPEDPNVCSHWESYAVTVQESYAHPFDQIYYTRCTDILNWFKCTRHRISYKTAYRRGLRTMYRRRSQCCPGYYESGDFCIPLCTEECVHGRCVSPDTCHCEPGWGGPDCSSGCDSDHWGPHCSNRCQCQNGALCNPITGACVCAAGFRGWRCEELCAPGTHGKGCQLPCQCRHGASCDPRAGECLCAPGYTGVYCEELCPPGSHGAHCELRCPCQNGGTCHHITGECACPPGWTGAVCAQPCPPGTFGQNCSQDCPCHHGGQCDHVTGQCHCTAGYMGDRCQEECPFGSFGFQCSQHCDCHNGGQCSPTTGACECEPGYKGPRCQERLCPEGLHGPGCTLPCPCDADNTISCHPVTGACTCQPGWSGHHCNESCPVGYYGDGCQLPCTCQNGADCHSITGGCTCAPGFMGEVCAVSCAAGTYGPNCSSICSCNNGGTCSPVDGSCTCKEGWQGLDCTLPCPSGTWGLNCNESCTCANGAACSPIDGSCSCTPGWLGDTCELPCPDGTFGLNCSEHCDCSHADGCDPVTGHCCCLAGWTGIRCDSTCPPGRWGPNCSVSCSCENGGSCSPEDGSCECAPGFRGPLCQRICPPGFYGHGCAQPCPLCVHSSRPCHHISGICECLPGFSGALCNQVCAGGYFGQDCAQLCSCANNGTCSPIDGSCQCFPGWIGKDCSQACPPGFWGPACFHACSCHNGASCSAEDGACHCTPGWTGLFCTQRKPHLLASQPLRIPCCGLLATVGIVQTSREGGMQAAPGLVVPDSCPTRTEELCRGSSRPDWIQGIDKPKVLEGQGCKAAQQHFLGRTVGAYASVRMAPAVTTSVASAPAAQASPGNTVSRDVPQEPLAMGVSSYVSA", "length": 875, "header": "sp|A6BM72-3|MEG11_HUMAN Isoform 3 of Multiple epidermal growth factor-like domains protein 11 OS=Homo sapiens OX=9606 GN=MEGF11 PE=1 SV=3 CANONICAL=A6BM72-1" }, "locus": {} }, { "isoform_ac": "A6BM72-4", "url": "", "sequence": { "sequence": "MMEELNPYTKISPALGAERHSVGAVTGIMLLLFLIVVLLGLFAWHRRRQKEKGRDLAPRVSYTPAMRMTSTDYSLSASTTPWWPVMEHLARPFSQRPRTQLSNKSLDRDTAGWTPYSYVNVLDQCPGGQVPARGLLH", "length": 137, "header": "sp|A6BM72-4|MEG11_HUMAN Isoform 4 of Multiple epidermal growth factor-like domains protein 11 OS=Homo sapiens OX=9606 GN=MEGF11 PE=1 SV=3 CANONICAL=A6BM72-1" }, "locus": {} }, { "isoform_ac": "C9JYE7-1", "url": "", "sequence": { "sequence": "MGDRCQEECPFGSFGFQCSQHCDCHNGGQCSPTTGACECEPGYKGPRCQERLCPEGLHGPGCTLPCPCDADNTISCHPVTGACTCQPGWSGHHCNESCPVGYYGDGCQLPCTCQNGADCHSITGGCTCAPGFMGEVCAVSCAAGTYGPNCSSICSCNNGGTCSPVDGSCTCKEGWQGLDCTLPCPSGTWGLNCNESCTCANGAACSPIDGSCSCTPGWLGDTCELPC", "length": 227, "header": "tr|C9JYE7-1|MEG11_HUMAN Computationally mapped isoform of Multiple epidermal growth factor-like domains protein 11 OS=Homo sapiens OX=9606 GN=MEGF11 PE=1 SV=8 CANONICAL=A6BM72-1" }, "locus": { "chromosome": "15", "start_pos": 65970563, "end_pos": 65929723, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000455812.2", "url": "https://www.ensembl.org/id/ENST00000455812.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000401400.1", "url": "https://www.ensembl.org/id/ENSP00000401400.1" } ] } }, { "isoform_ac": "H3BR81-1", "url": "", "sequence": { "sequence": "MGDRCQEECPFGSFGFQCSQHCDCHNGGQCSPTTGACECEPGYKGPRCQERLCPEGLHGPGCTLPCPCDADNTISCHPVTGACTCQPGWSGHHCNESCPVGYYGDGCQLPCTCQNGADCHSITGGCTCAPGFMGEVCAVSCAAGTYGPNCSSICSCNNGGTCSPVDGSCTCKEGWQGLDCTLPCPSGTWGLNCNESCTCANGAACSPIDGSCSCTPGWLGDTCELPCPDGTFGLNCSEHCDCSHADGCDPVTGHCCCLAGWTGIRCDSTCPPGRWGPNCSVSCSCENGGSCSPEDGSCECAPGFRGPLCQRICPPGFYGHGCAQPCPLCVHSSRPCHHISGICECLPGFSGALCNQVCAGGYFGQDCAQLCSCANNGTCSPIDGSCQCFPGWIGKDCSQACPPGFWGPACFHACSCHNGASCSAEDGACHCTPGWTGLFCTQRKPHLLASQPLRIPCCGLLATVGIVQTSREGGMQAAPGLVVPDSCPTRTEELCRGSSRPDWIQGIDKPKVLEGQGCKAAQQHFLGRTVGAYASVRMAPAVTTSVASAPAAQASPGNTVSRDVPQEPLAMGVSSYVSA", "length": 579, "header": "tr|H3BR81-1|MEG11_HUMAN Computationally mapped isoform of Multiple epidermal growth factor-like domains protein 11 OS=Homo sapiens OX=9606 GN=MEGF11 PE=1 SV=1 CANONICAL=A6BM72-1" }, "locus": { "chromosome": "15", "start_pos": 65970563, "end_pos": 65915548, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000490495.5", "url": "https://www.ensembl.org/id/ENST00000490495.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000456118.1", "url": "https://www.ensembl.org/id/ENSP00000456118.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 270, "start_aa": "Asn", "end_pos": 270, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn270", "evidence": [ { "id": "A6BM72", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A6BM72#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 531, "start_aa": "Asn", "end_pos": 531, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn531", "evidence": [ { "id": "A6BM72", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A6BM72#ptm_processing" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_predicted" ], "publication": [ { "title": "The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment.", "journal": "Genome Res.", "date": "2003", "authors": "Clark HF, Gurney AL, Abaya E, Baker K, Baldwin D, Brush J, Chen J, Chow B, Chui C, Crowley C, Currell B, Deuel B, Dowd P, Eaton D, Foster J, Grimaldi C, Gu Q, Hass PE, Heldens S, Huang A, Kim HS, Klimowski L, Jin Y, Johnson S, Lee J, Lewis L, Liao D, Mark M, Robbie E, Sanchez C, Schoenfeld J, Seshagiri S, Simmons L, Singh J, Smith V, Stinson J, Vagts A, Vandlen R, Watanabe C, Wieand D, Woods K, Xie MH, Yansura D, Yi S, Yu G, Yuan J, Zhang M, Zhang Z, Goddard A, Wood WI, Godowski P, Gray A", "evidence": [ { "database": "UniProtKB", "id": "A6BM72", "url": "https://www.uniprot.org/uniprot/A6BM72" } ], "reference": [ { "type": "PubMed", "id": "12975309", "url": "https://glygen.org/publication/PubMed/12975309" } ] }, { "title": "The mammalian Ced-1 ortholog MEGF10/KIAA1780 displays a novel adhesion pattern.", "journal": "Exp. Cell Res.", "date": "2007", "authors": "Suzuki E, Nakayama M", "evidence": [ { "database": "UniProtKB", "id": "A6BM72", "url": "https://www.uniprot.org/uniprot/A6BM72" } ], "reference": [ { "type": "PubMed", "id": "17498693", "url": "https://glygen.org/publication/PubMed/17498693" } ] }, { "title": "Assessment of a polymorphism of SDK1 with hypertension in Japanese Individuals.", "journal": "American journal of hypertension", "date": "2010", "authors": "Oguri M, Kato K, Yokoi K, Yoshida T, Watanabe S, Metoki N, Yoshida H, Satoh K, Aoyagi Y, Nozawa Y, Yamada Y", "evidence": [ { "database": "RefSeq", "id": "NP_115821", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_115821" } ], "reference": [ { "type": "PubMed", "id": "19851296", "url": "https://glygen.org/publication/PubMed/19851296" } ] }, { "title": "Association of genetic variants with hemorrhagic stroke in Japanese individuals.", "journal": "International journal of molecular medicine", "date": "2010", "authors": "Yoshida T, Kato K, Yokoi K, Oguri M, Watanabe S, Metoki N, Yoshida H, Satoh K, Aoyagi Y, Nozawa Y, Yamada Y", "evidence": [ { "database": "RefSeq", "id": "NP_115821", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_115821" } ], "reference": [ { "type": "PubMed", "id": "20198315", "url": "https://glygen.org/publication/PubMed/20198315" } ] }, { "title": "Overexpression of multiple epidermal growth factor like domains 11 rescues anoikis survival through tumor cells-platelet interaction in triple negative breast Cancer cells.", "journal": "Life sciences", "date": "2022", "authors": "Huang CP, Tsai YF, Lin YS, Liu CY, Huang TT, Huang CC, Chiu JH, Tseng LM", "evidence": [ { "database": "RefSeq", "id": "NP_115821", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_115821" } ], "reference": [ { "type": "PubMed", "id": "35398017", "url": "https://glygen.org/publication/PubMed/35398017" } ] }, { "title": "Prenatal phthalate exposure and cord blood DNA methylation.", "journal": "Scientific reports", "date": "2023-04-29", "authors": "Lee Jooah, Kim Jeeyoung, Zinia Sabrina Shafi, Park Jaehyun, Won Sungho, Kim Woo Jin", "evidence": [ { "database": "RefSeq", "id": "NP_115821", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_115821" } ], "reference": [ { "type": "PubMed", "id": "37120575", "url": "https://glygen.org/publication/PubMed/37120575" } ] } ], "pathway": [ { "id": "hsa:84465", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:84465", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "F1M370-1", "protein_name": "Multiple EGF-like-domains 11", "gene_name": "Megf11", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MAPSTVGLLVVFLLQAALALNPEDPNVCSHWESYAVTVQESYAHPFDQIYYTRCADILNWFKCTRHRISYKTAYRRGLRTMYRRRSQCCPGYYENGDFCIPLCTEECMHGRCVSPDTCHCEPGWGGPDCSSGCDSEHWGPHCSNRCQCQNGALCNPITGACVCAPGFRGWRCEEFCAPGTHGKGCQLLCQCHHGASCDPRTGECLCAPGYTGVYCEELCPPGSHGAHCELRCPCQNGGTCHHITGECACPPGWTGAVCAQPCPPGTFGQNCSQDCPCHHGGQCDHVTGQCHCTAGYMGDRCQEECPFGTFGFRCSQRCDCHNGGQCSPATGACECEPGYKGPSCQERLCPEGLHGPGCTSPCPCDTENTISCHPVTGACTCQPGWSGHYCNESCPAGYYGNGCQLPCTCQNGADCHSITGSCTCAPGFMGEVCAVPCAAGTYGPNCSSVCSCSNGGTCSPVDGSCTCREGWQGLDCSLPCPSGTWGLNCNESCVCANGAACSPFDGSCACTPGWLGDSCELPCPDGTFGLNCSEHCDCSHADGCDPVTGHCCCLAGWTGIRCDSTCPPGRWGPNCSVSCSCENGGSCSPVDGSCECAPGFRGPLCQRICPPGFYGHGCAQPCPLCVHSRGPCHHVSGICECLPGFSGALCNQVCAGGHFGQDCAQLCSCANNGTCSPIDGSCQCFPGWTGKDCSQGCPAAFFGKDCGHICQCQNGASCDHITGKCTCRTGFSGRHCEQRCAPGTFGYGCQQLCECMNNATCDHVTGTCYCSPGFKGIRCDQAALMMDELNPYTKISPALGAERHSVGAVTGIILLLFLVVVLLGLFAWRRRRQKEKGRDLAPRVSYTPAMRMTSTDYSLSDLSQSSSHAQCFSNASYHTLACGGPATSQASTLDRNSPTKLSNKSLDRDTAGWTPYSYVNVLDSHFQISALEARYPPEDFYIELRHLSRHAEPHSPGTCGMDRRQNTYIMDKGFKDYMKESVCSSSTCSLNSSENPYATIKDPPILTCKLPESSYVEMKSPVHMGSPYTDVPSLSTSNKNIYEVEPTVSVVQEGRGHNSSYIQNPYDLPRNSHIPGHYDLLPVRQSHAHGPSQDKQ", "length": 1096 }, "evidence": [ { "id": "45921235", "url": "http://www.informatics.jax.org/homology/45921235", "database": "MGI" }, { "id": "A6BM72", "url": "https://omabrowser.org/oma/group/A6BM72/", "database": "OMA" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q80T91-1", "protein_name": "Multiple epidermal growth factor-like domains protein 11", "gene_name": "Megf11", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MAPSAVGLLVFLLQAALALNPEDPNVCSHWESYAVTVQESYAHPFDQIYYTRCADILNWFKCTRHRISYKTAYRRGLRTMYRRRSQCCPGYYENGDFCIPLCTEECMHGRCVSPDTCHCEPGWGGPDCSSGCDSEHWGPHCSNRCQCQNGALCNPITGACVCAPGFRGWRCEELCAPGTHGKGCQLLCQCHHGASCDPRTGECLCAPGYTGVYCEELCPPGSHGAHCELRCPCQNGGTCHHITGECACPPGWTGAVCAQPCPPGTFGQNCSQDCPCHHGGQCDHVTGQCHCTAGYMGDRCQEECPFGTFGFLCSQRCDCHNGGQCSPATGACECEPGYKGPSCQERLCPEGLHGPGCTLPCPCDTENTISCHPVTGACTCQPGWSGHYCNESCPAGYYGNGCQLPCTCQNGADCHSITGSCTCAPGFMGEVCAVPCAAGTYGPNCSSVCSCSNGGTCSPVDGSCTCREGWQGLDCSLPCPSGTWGLNCNETCICANGAACSPFDGSCACTPGWLGDSCELPCPDGTFGLNCSEHCDCSHADGCDPVTGHCCCLAGWTGIRCDSTCPPGRWGPNCSVSCSCENGGSCSPEDGSCECAPGFRGPLCQRICPPGFYGHGCAQPCPLCVHSRGPCHHISGICECLPGFSGALCNQVCAGGHFGQDCAQLCSCANNGTCSPIDGSCQCFPGWIGKDCSQACPSGFWGSACFHTCSCHNGASCSAEDGACHCTPGWTGLFCTQRCPSAFFGKDCGHICQCQNGASCDHITGKCTCRTGFSGRHCEQRCAPGTFGYGCQQLCECMNNATCDHVTGTCYCSPGFKGIRCDQAALMMDELNPYTKISPALGAERHSVGAVTGIVLLLFLVVVLLGLFAWRRRRQKEKGRDLAPRVSYTPAMRMTSTDYSLSDLSQSSSHAQCFSNASYHTLACGGPATSQASTLDRNSPTKLSNKSLDRDTAGWTPYSYVNVLDSHFQISALEARYPPEDFYIELRHLSRHAEPHSPGTCGMDRRQNTYIMDKGFKDYMKESVCSSSTCSLNSSENPYATIKDPPILTCKLPESSYVEMKSPVHLGSPYTDVPSLSTSNKNIYEVGRCLT", "length": 1091 }, "evidence": [ { "id": "45921235", "url": "http://www.informatics.jax.org/homology/45921235", "database": "MGI" }, { "id": "A6BM72", "url": "https://omabrowser.org/oma/group/A6BM72/", "database": "OMA" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 1, "go_terms": [ { "name": "scavenger receptor activity", "id": "GO:0005044", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005044", "evidence": [ { "database": "UniProtKB", "id": "A6BM72", "url": "https://www.uniprot.org/uniprot/A6BM72" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 3, "go_terms": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "A6BM72", "url": "https://www.uniprot.org/uniprot/A6BM72" } ], "pmid": "" }, { "name": "basolateral plasma membrane", "id": "GO:0016323", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016323", "evidence": [ { "database": "UniProtKB", "id": "A6BM72", "url": "https://www.uniprot.org/uniprot/A6BM72" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "A6BM72", "url": "https://www.uniprot.org/uniprot/A6BM72" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 2, "go_terms": [ { "name": "homotypic cell-cell adhesion", "id": "GO:0034109", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034109", "evidence": [ { "database": "UniProtKB", "id": "A6BM72", "url": "https://www.uniprot.org/uniprot/A6BM72" } ], "pmid": "" }, { "name": "retina layer formation", "id": "GO:0010842", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010842", "evidence": [ { "database": "UniProtKB", "id": "A6BM72", "url": "https://www.uniprot.org/uniprot/A6BM72" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 1005, "end_pos": 1007, "annotation": "n_glycosylation_sequon" }, { "start_pos": 270, "end_pos": 272, "annotation": "n_glycosylation_sequon" }, { "start_pos": 391, "end_pos": 393, "annotation": "n_glycosylation_sequon" }, { "start_pos": 445, "end_pos": 447, "annotation": "n_glycosylation_sequon" }, { "start_pos": 490, "end_pos": 492, "annotation": "n_glycosylation_sequon" }, { "start_pos": 531, "end_pos": 533, "annotation": "n_glycosylation_sequon" }, { "start_pos": 574, "end_pos": 576, "annotation": "n_glycosylation_sequon" }, { "start_pos": 672, "end_pos": 674, "annotation": "n_glycosylation_sequon" }, { "start_pos": 800, "end_pos": 802, "annotation": "n_glycosylation_sequon" }, { "start_pos": 801, "end_pos": 803, "annotation": "n_glycosylation_sequon" }, { "start_pos": 938, "end_pos": 940, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "sequence_features": { "n_linked_sites": [ 270, 531 ], "o_linked_sites": [], "snv_sites": [ 28, 67, 128, 270, 413, 455, 457, 490, 492, 525, 531, 533, 563, 578, 585, 679, 716, 759, 808, 896, 899, 952 ], "glycation_sites": [], "phosphorylation_sites": [], "sequon_annotation_sites": [ { "start_pos": 1005, "end_pos": 1007 }, { "start_pos": 270, "end_pos": 272 }, { "start_pos": 391, "end_pos": 393 }, { "start_pos": 445, "end_pos": 447 }, { "start_pos": 490, "end_pos": 492 }, { "start_pos": 531, "end_pos": 533 }, { "start_pos": 574, "end_pos": 576 }, { "start_pos": 672, "end_pos": 674 }, { "start_pos": 800, "end_pos": 802 }, { "start_pos": 801, "end_pos": 803 }, { "start_pos": 938, "end_pos": 940 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", 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