{ "uniprot_canonical_ac": "P0DPD6-4", "uniprot_ac": "P0DPD6", "uniprot_id": "ECE2_HUMAN", "mass": { "chemical_mass": 91211.0, "monoisotopic_mass": 91211.0 }, "refseq": { "ac": "NP_001032401", "name": "endothelin-converting enzyme 2 isoform B", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001032401" }, "gene_names": [ { "name": "ECE2", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P0DPD6", "id": "P0DPD6" }, { "name": "KIAA0604", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P0DPD6", "id": "P0DPD6" }, { "name": "PRO740", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P0DPD6", "id": "P0DPD6" } ], "protein_names": [ { "name": "Endothelin-converting enzyme 2", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P0DPD6" }, { "name": "3.4.24.71", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P0DPD6" }, { "name": "ECE-2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P0DPD6" }, { "name": "EEF1A lysine methyltransferase 4; EEF1AKMT4-ECE2; EEF1AKMT4-ECE2 readthrough transcript protein", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001032401", "id": "NP_001032401" }, { "name": "endothelin-converting enzyme 2 isoform B", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001032401", "id": "NP_001032401" } ], "function": [ { "annotation": "Converts big endothelin-1 to endothelin-1. Also involved in the processing of various neuroendocrine peptides, including neurotensin, angiotensin I, substance P, proenkephalin-derived peptides, and prodynorphin-derived peptides. May play a role in amyloid-beta processing (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "P0DPD6", "url": "https://www.uniprot.org/uniprot/P0DPD6#function" }, { "database": "PubMed", "id": "12560336", "url": "https://glygen.org/publication/PubMed/12560336" }, { "database": "UniProtKB", "id": "B2RQR8", "url": "https://www.uniprot.org/uniprot/B2RQR8#function" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs867596624", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs867596624" }, { "id": "rs867596624", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs867596624#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 199, "end_pos": 199, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NQA->NQT).", "chr_id": "3", "chr_pos": "184277445", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A199", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1015686908", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1015686908" }, { "id": "rs1015686908", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1015686908" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 207, "end_pos": 207, "sequence_org": "N", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NTT->TTT).", "chr_id": "3", "chr_pos": "184277928", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N207", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs780045458", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780045458" }, { "id": "rs780045458", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780045458" }, { "id": "rs780045458", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs780045458" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 209, "end_pos": 209, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NTT->NTI).", "chr_id": "3", "chr_pos": "184277934", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T209", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs746916386", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746916386" }, { "id": "rs746916386", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746916386" }, { "id": "rs746916386", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs746916386" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 212, "end_pos": 212, "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NSS->NPS).", "chr_id": "3", "chr_pos": "184277942", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S212", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P0DPD6", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P0DPD6" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 213, "end_pos": 213, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "C", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NSS->NSC).", "chr_id": "3", "chr_pos": "184277945", "ref_nt": "A", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S213", "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 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"name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", 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"http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - 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", 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"MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant 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"https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "P0DPD6", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P0DPD6" } ], "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. 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P0DPD6" } ], "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": 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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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{ "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 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"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": "No", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "P0DPD6", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P0DPD6" } ], "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", 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P0DPD6" } ], "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": "P0DPD6", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P0DPD6" } ], "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", 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located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": 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"MNVALQELGAGSNMVEYKRATLRDEDAPETPVEGGASPDAMEVGKGASPFSPGPSPGMTPGTPRSSGLFWRVTCPHLRSISGLCSRTMVGFQKGTRQLLGSRTQLELVLAGASLLLAALLLGCLVALGVQYHRDPSHSTCLTEACIRVAGKILESLDRGVSPCEDFYQFSCGGWIRRNPLPDGRSRWNTFNSLWDQNQAILKHLLENTTFNSSSEAEQKTQRFYLSCLQVERIEELGAQPLRDLIEKIGGWNITGPWDQDNFMEVLKAVAGTYRATPFFTVYISADSKSSNSNVIQVDQSGLFLPSRDYYLNRTANEKVLTAYLDYMEELGMLLGGRPTSTREQMQQVLELEIQLANITVPQDQRRDEEKIYHKMSISELQALAPSMDWLEFLSFLLSPLELSDSEPVVVYGMDYLQQVSELINRTEPSILNNYLIWNLVQKTTSSLDRRFESAQEKLLETLYGTKKSCVPRWQTCISNTDDALGFALGSLFVKATFDRQSKEIAEGMISEIRTAFEEALGQLVWMDEKTRQAAKEKADAIYDMIGFPDFILEPKELDDVYDGYEISEDSFFQNMLNLYNFSAKVMADQLRKPPSRDQWSMTPQTVNAYYLPTKNEIVFPAGILQAPFYARNHPKALNFGGIGVVMGHELTHAFDDQGREYDKEGNLRPWWQNESLAAFRNHTACMEEQYNQYQVNGERLNGRQTLGENIADNGGLKAAYNAYKAWLRKHGEEQQLPAVGLTNHQLFFVGFAQVWCSVRTPESSHEGLVTDPHSPARFRVLGTLSNSRDFLRHFGCPVGSPMNPGQLCEVW", "length": 811, "header": "sp|P0DPD6-4|ECE2_HUMAN Isoform 4 of Endothelin-converting enzyme 2 OS=Homo sapiens OX=9606 GN=ECE2 PE=1 SV=1 CANONICAL=P0DPD6-4" }, "isoforms": [ { "isoform_ac": "P0DPD6-2", "url": "", "sequence": { "sequence": "MNVALQELGAGSNMVEYKRATLRDEDAPETPVEGGASPDAMEVGFQKGTRQLLGSRTQLELVLAGASLLLAALLLGCLVALGVQYHRDPSHSTCLTEACIRVAGKILESLDRGVSPCEDFYQFSCGGWIRRNPLPDGRSRWNTFNSLWDQNQAILKHLLENTTFNSSSEAEQKTQRFYLSCLQVERIEELGAQPLRDLIEKIGGWNITGPWDQDNFMEVLKAVAGTYRATPFFTVYISADSKSSNSNVIQVDQSGLFLPSRDYYLNRTANEKVLTAYLDYMEELGMLLGGRPTSTREQMQQVLELEIQLANITVPQDQRRDEEKIYHKMSISELQALAPSMDWLEFLSFLLSPLELSDSEPVVVYGMDYLQQVSELINRTEPSILNNYLIWNLVQKTTSSLDRRFESAQEKLLETLYGTKKSCVPRWQTCISNTDDALGFALGSLFVKATFDRQSKEIAEGMISEIRTAFEEALGQLVWMDEKTRQAAKEKADAIYDMIGFPDFILEPKELDDVYDGYEISEDSFFQNMLNLYNFSAKVMADQLRKPPSRDQWSMTPQTVNAYYLPTKNEIVFPAGILQAPFYARNHPKALNFGGIGVVMGHELTHAFDDQGREYDKEGNLRPWWQNESLAAFRNHTACMEEQYNQYQVNGERLNGRQTLGENIADNGGLKAAYNAYKAWLRKHGEEQQLPAVGLTNHQLFFVGFAQVWCSVRTPESSHEGLVTDPHSPARFRVLGTLSNSRDFLRHFGCPVGSPMNPGQLCEVW", "length": 765, "header": "sp|P0DPD6-2|ECE2_HUMAN Isoform 2 of Endothelin-converting enzyme 2 OS=Homo sapiens OX=9606 GN=ECE2 PE=1 SV=1 CANONICAL=P0DPD6-4" }, "locus": { "chromosome": "3", "start_pos": 184292235, "end_pos": 184276154, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000404464.8", "url": "https://www.ensembl.org/id/ENST00000404464.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000385846.3", "url": "https://www.ensembl.org/id/ENSP00000385846.3" } ] } }, { "isoform_ac": "P0DPD6-3", "url": "", "sequence": { "sequence": "MNVALQELGAGSNVGFQKGTRQLLGSRTQLELVLAGASLLLAALLLGCLVALGVQYHRDPSHSTCLTEACIRVAGKILESLDRGVSPCEDFYQFSCGGWIRRNPLPDGRSRWNTFNSLWDQNQAILKHLLENTTFNSSSEAEQKTQRFYLSCLQVERIEELGAQPLRDLIEKIGGWNITGPWDQDNFMEVLKAVAGTYRATPFFTVYISADSKSSNSNVIQVDQSGLFLPSRDYYLNRTANEKVLTAYLDYMEELGMLLGGRPTSTREQMQQVLELEIQLANITVPQDQRRDEEKIYHKMSISELQALAPSMDWLEFLSFLLSPLELSDSEPVVVYGMDYLQQVSELINRTEPSILNNYLIWNLVQKTTSSLDRRFESAQEKLLETLYGTKKSCVPRWQTCISNTDDALGFALGSLFVKATFDRQSKEIAEGMISEIRTAFEEALGQLVWMDEKTRQAAKEKADAIYDMIGFPDFILEPKELDDVYDGYEISEDSFFQNMLNLYNFSAKVMADQLRKPPSRDQWSMTPQTVNAYYLPTKNEIVFPAGILQAPFYARNHPKALNFGGIGVVMGHELTHAFDDQGREYDKEGNLRPWWQNESLAAFRNHTACMEEQYNQYQVNGERLNGRQTLGENIADNGGLKAAYNAYKAWLRKHGEEQQLPAVGLTNHQLFFVGFAQVWCSVRTPESSHEGLVTDPHSPARFRVLGTLSNSRDFLRHFGCPVGSPMNPGQLCEVW", "length": 736, "header": "sp|P0DPD6-3|ECE2_HUMAN Isoform 3 of Endothelin-converting enzyme 2 OS=Homo sapiens OX=9606 GN=ECE2 PE=1 SV=1 CANONICAL=P0DPD6-4" }, "locus": { "chromosome": "3", "start_pos": 184292235, "end_pos": 184276154, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000359140.8", "url": "https://www.ensembl.org/id/ENST00000359140.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000352052.4", "url": "https://www.ensembl.org/id/ENSP00000352052.4" } ] } }, { "isoform_ac": "P0DPD6-4", "url": "", "sequence": { "sequence": "MNVALQELGAGSNMVEYKRATLRDEDAPETPVEGGASPDAMEVGKGASPFSPGPSPGMTPGTPRSSGLFWRVTCPHLRSISGLCSRTMVGFQKGTRQLLGSRTQLELVLAGASLLLAALLLGCLVALGVQYHRDPSHSTCLTEACIRVAGKILESLDRGVSPCEDFYQFSCGGWIRRNPLPDGRSRWNTFNSLWDQNQAILKHLLENTTFNSSSEAEQKTQRFYLSCLQVERIEELGAQPLRDLIEKIGGWNITGPWDQDNFMEVLKAVAGTYRATPFFTVYISADSKSSNSNVIQVDQSGLFLPSRDYYLNRTANEKVLTAYLDYMEELGMLLGGRPTSTREQMQQVLELEIQLANITVPQDQRRDEEKIYHKMSISELQALAPSMDWLEFLSFLLSPLELSDSEPVVVYGMDYLQQVSELINRTEPSILNNYLIWNLVQKTTSSLDRRFESAQEKLLETLYGTKKSCVPRWQTCISNTDDALGFALGSLFVKATFDRQSKEIAEGMISEIRTAFEEALGQLVWMDEKTRQAAKEKADAIYDMIGFPDFILEPKELDDVYDGYEISEDSFFQNMLNLYNFSAKVMADQLRKPPSRDQWSMTPQTVNAYYLPTKNEIVFPAGILQAPFYARNHPKALNFGGIGVVMGHELTHAFDDQGREYDKEGNLRPWWQNESLAAFRNHTACMEEQYNQYQVNGERLNGRQTLGENIADNGGLKAAYNAYKAWLRKHGEEQQLPAVGLTNHQLFFVGFAQVWCSVRTPESSHEGLVTDPHSPARFRVLGTLSNSRDFLRHFGCPVGSPMNPGQLCEVW", "length": 811, "header": "sp|P0DPD6-4|ECE2_HUMAN Isoform 4 of Endothelin-converting enzyme 2 OS=Homo sapiens OX=9606 GN=ECE2 PE=1 SV=1 CANONICAL=P0DPD6-4" }, "locus": { "chromosome": "3", "start_pos": 184292235, "end_pos": 184276154, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000357474.9", "url": "https://www.ensembl.org/id/ENST00000357474.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000350066.5", "url": "https://www.ensembl.org/id/ENSP00000350066.5" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 207, "start_aa": "Asn", "end_pos": 207, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn207", "evidence": [ { "id": "P0DPD6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P0DPD6#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 211, "start_aa": "Asn", "end_pos": 211, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn211", "evidence": [ { "id": "P0DPD6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P0DPD6#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 252, "start_aa": "Asn", "end_pos": 252, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn252", "evidence": [ { "id": "P0DPD6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P0DPD6#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 312, "start_aa": "Asn", "end_pos": 312, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn312", "evidence": [ { "id": "P0DPD6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P0DPD6#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 357, "start_aa": "Asn", "end_pos": 357, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn357", "evidence": [ { "id": "P0DPD6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P0DPD6#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 424, "start_aa": "Asn", "end_pos": 424, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn424", "evidence": [ { "id": "P0DPD6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P0DPD6#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 580, "start_aa": "Asn", "end_pos": 580, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn580", "evidence": [ { "id": "P0DPD6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P0DPD6#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 673, "start_aa": "Asn", "end_pos": 673, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn673", "evidence": [ { "id": "P0DPD6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P0DPD6#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 681, "start_aa": "Asn", "end_pos": 681, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn681", "evidence": [ { "id": "P0DPD6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P0DPD6#ptm_processing" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "P0DPD6", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P0DPD6" }, { "id": "28510447", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28510447" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "enzyme", "glycoprotein", "glycoprotein_predicted", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Protease-activated receptors 1 and 4 mediate activation of human platelets by thrombin.", "journal": "The Journal of clinical investigation", "date": "1999", "authors": "Kahn ML, Nakanishi-Matsui M, Shapiro MJ, Ishihara H, Coughlin SR", "evidence": [ { "database": "Reactome", "id": "R-HSA-375276", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-375276" } ], "reference": [ { "type": "PubMed", "id": "10079109", "url": "https://glygen.org/publication/PubMed/10079109" } ] }, { "title": "Discovery of a receptor related to the galanin receptors.", "journal": "FEBS letters", "date": "1999", "authors": "Lee DK, Nguyen T, O'Neill GP, Cheng R, Liu Y, Howard AD, Coulombe N, Tan CP, Tang-Nguyen AT, George SR, O'Dowd BF", "evidence": [ { "database": "Reactome", "id": "R-HSA-375276", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-375276" } ], "reference": [ { "type": "PubMed", "id": "10100623", "url": "https://glygen.org/publication/PubMed/10100623" } ] }, { "title": "Receptor for motilin identified in the human gastrointestinal system.", "journal": "Science (New York, N.Y.)", "date": "1999", "authors": "Feighner SD, Tan CP, McKee KK, Palyha OC, Hreniuk DL, Pong SS, Austin CP, Figueroa D, MacNeil D, Cascieri MA, Nargund R, Bakshi R, Abramovitz M, Stocco R, Kargman S, O'Neill G, Van Der Ploeg LH, Evans J, Patchett AA, Smith RG, Howard AD", "evidence": [ { "database": "Reactome", "id": "R-HSA-375276", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-375276" } ], "reference": [ { "type": "PubMed", "id": "10381885", "url": "https://glygen.org/publication/PubMed/10381885" } ] }, { "title": "Melanin-concentrating hormone is the cognate ligand for the orphan G-protein-coupled receptor SLC-1.", "journal": "Nature", "date": "1999", "authors": "Chambers J, Ames RS, Bergsma D, Muir A, Fitzgerald LR, Hervieu G, Dytko GM, Foley JJ, Martin J, Liu WS, Park J, Ellis C, Ganguly S, Konchar S, Cluderay J, Leslie R, Wilson S, Sarau HM", "evidence": [ { "database": "Reactome", "id": "R-HSA-375276", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-375276" } ], "reference": [ { "type": "PubMed", "id": "10421367", "url": "https://glygen.org/publication/PubMed/10421367" } ] }, { "title": "Molecular characterization of the melanin-concentrating-hormone receptor.", "journal": "Nature", "date": "1999", "authors": "Saito Y, Nothacker HP, Wang Z, Lin SH, Leslie F, Civelli O", "evidence": [ { "database": "Reactome", "id": "R-HSA-375276", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-375276" } ], "reference": [ { "type": "PubMed", "id": "10421368", "url": "https://glygen.org/publication/PubMed/10421368" } ] }, { "title": "Proteolytic processing of big endothelin-3 by the kell blood group protein.", "journal": "Blood", "date": "1999", "authors": "Lee S, Lin M, Mele A, Cao Y, Farmar J, Russo D, Redman C", "evidence": [ { "database": "Reactome", "id": "R-HSA-375276", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-375276" } ], "reference": [ { "type": "PubMed", "id": "10438732", "url": "https://glygen.org/publication/PubMed/10438732" } ] }, { "title": "Extensive alternative splicing in the 5'-untranslated region of the rat and human neuropeptide Y Y5 receptor genes regulates receptor expression.", "journal": "Journal of neurochemistry", "date": "1999", "authors": "Parker EM, Xia L", "evidence": [ { "database": "Reactome", "id": "R-HSA-375276", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-375276" } ], "reference": [ { "type": "PubMed", "id": "10461880", "url": "https://glygen.org/publication/PubMed/10461880" } ] }, { "title": "Tissue distribution of prolactin-releasing peptide (PrRP) and its receptor.", "journal": "Regulatory peptides", "date": "1999", "authors": "Fujii R, Fukusumi S, Hosoya M, Kawamata Y, Habata Y, Hinuma S, Sekiguchi M, Kitada C, Kurokawa T, Nishimura O, Onda H, Sumino Y, Fujino M", "evidence": [ { "database": "Reactome", "id": "R-HSA-375276", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-375276" } ], "reference": [ { "type": "PubMed", "id": "10498338", "url": "https://glygen.org/publication/PubMed/10498338" } ] }, { "title": "Human urotensin-II is a potent vasoconstrictor and agonist for the orphan receptor GPR14.", "journal": "Nature", "date": "1999", "authors": "Ames RS, Sarau HM, Chambers JK, Willette RN, Aiyar NV, Romanic AM, Louden CS, Foley JJ, Sauermelch CF, Coatney RW, Ao Z, Disa J, Holmes SD, Stadel JM, Martin JD, Liu WS, Glover GI, Wilson S, McNulty DE, Ellis CE, Elshourbagy NA, Shabon U, Trill JJ, Hay DW, Ohlstein EH, Bergsma DJ, Douglas SA", "evidence": [ { "database": "Reactome", "id": "R-HSA-375276", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-375276" } ], "reference": [ { "type": "PubMed", "id": "10499587", "url": "https://glygen.org/publication/PubMed/10499587" } ] }, { "title": "Ghrelin is a growth-hormone-releasing acylated peptide from stomach.", "journal": "Nature", "date": "1999", "authors": "Kojima M, Hosoda H, Date Y, Nakazato M, Matsuo H, Kangawa K", "evidence": [ { "database": "Reactome", "id": "R-HSA-375276", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-375276" } ], "reference": [ { "type": "PubMed", "id": "10604470", "url": "https://glygen.org/publication/PubMed/10604470" } ] }, { "title": "Clinical pharmacokinetics of angiotensin II (AT1) receptor blockers in hypertension.", "journal": "Journal of human hypertension", "date": "2000", "authors": "Israili ZH", "evidence": [ { "database": "Reactome", "id": "R-HSA-375276", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-375276" } ], "reference": [ { "type": "PubMed", "id": "10854085", "url": "https://glygen.org/publication/PubMed/10854085" } ] }, { "title": "Identification and characterization of two neuromedin U receptors differentially expressed in peripheral tissues and the central nervous system.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Raddatz R, Wilson AE, Artymyshyn R, Bonini JA, Borowsky B, Boteju LW, Zhou S, Kouranova EV, Nagorny R, Guevarra MS, Dai M, Lerman GS, Vaysse PJ, Branchek TA, Gerald C, Forray C, Adham N", "evidence": [ { "database": "Reactome", "id": "R-HSA-375276", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-375276" } ], "reference": [ { "type": "PubMed", "id": "10899166", "url": "https://glygen.org/publication/PubMed/10899166" } ] }, { "title": "Growth hormone secretagogue receptor family members and ligands.", "journal": "Endocrine", "date": "2001", "authors": "Smith RG, Leonard R, Bailey AR, Palyha O, Feighner S, Tan C, Mckee KK, Pong SS, Griffin P, Howard A", "evidence": [ { "database": "Reactome", "id": "R-HSA-375276", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-375276" } ], "reference": [ { "type": "PubMed", "id": "11322507", "url": "https://glygen.org/publication/PubMed/11322507" } ] }, { "title": "Metastasis suppressor gene KiSS-1 encodes peptide ligand of a G-protein-coupled receptor.", "journal": "Nature", "date": "2001", "authors": "Ohtaki T, Shintani Y, Honda S, Matsumoto H, Hori A, Kanehashi K, Terao Y, Kumano S, Takatsu Y, Masuda Y, Ishibashi Y, Watanabe T, Asada M, Yamada T, Suenaga M, Kitada C, Usuki S, Kurokawa T, Onda H, Nishimura O, Fujino M", "evidence": [ { "database": "Reactome", "id": "R-HSA-375276", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-375276" } ], "reference": [ { "type": "PubMed", "id": "11385580", "url": "https://glygen.org/publication/PubMed/11385580" } ] }, { "title": "The metastasis suppressor gene KiSS-1 encodes kisspeptins, the natural ligands of the orphan G protein-coupled receptor GPR54.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Kotani M, Detheux M, Vandenbogaerde A, Communi D, Vanderwinden JM, Le Poul E, Brezillon S, Tyldesley R, Suarez-Huerta N, Vandeput F, Blanpain C, Schiffmann SN, Vassart G, Parmentier M", "evidence": [ { "database": "Reactome", "id": "R-HSA-375276", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-375276" } ], "reference": [ { "type": "PubMed", "id": "11457843", "url": "https://glygen.org/publication/PubMed/11457843" } ] }, { "title": "Cloning and molecular characterization of the novel human melanin-concentrating hormone receptor MCH2.", "journal": "Molecular pharmacology", "date": "2001", 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"MASPRTPVSPPELPEKNFQYRQVQYWDQRYKDAADSGPYEWFGDFASFRALLEPELCPEDRILVLGCGNSALSYELFLGGFPNVTSVDYSPVVVAAMQVRYAHVPSLRWETMDVRALDFPSGSFDVVLEKGTLDAMLAGEPDPWNVSSEGVHTVDQVLSEVGFQKRTRQLFGSHTQLELVLAGLILVLAALLLGCLVALWVHRDPAHSTCVTEACIRVAGKILESLDRGVSPCQDFYQFSCGGWIRRNPLPNGRSRWNTFNSLWDQNQAILKHLLENTTFNSSSEAERKTRSFYLSCLQSERIEKLGAKPLRDLIDKIGGWNITGPWDEDSFMDVLKAVAGTYRATPFFTVYVSADSKSSNSNIIQVDQSGLFLPSRDYYLNRTANEKVLTAYLDYMVELGVLLGGQPTSTREQMQQVLELEIQLANITVPQDQRRDEEKIYHKMSISELQALAPAVDWLEFLSFLLSPLELGDSEPVVVYGTEYLQQVSELINRTEPSILNNYLIWNLVQKTTSSLDQRFETAQEKLLETLYGTKKSCTPRWQTCISNTDDALGFALGSLFVKATFDRQSKEIAEGMINEIRSAFEETLGDLVWMDEKTRLAAKEKADAIYDMIGFPDFILEPKELDDVYDGYEVSEDSFFQNMLNLYNFSAKVMADQLRKPPSRDQWSMTPQTVNAYYLPTKNEIVFPAGILQAPFYAHNHPKALNFGGIGVVMGHELTHAFDDQGREYDKEGNLRPWWQNESLTAFQNHTACMEEQYSQYQVNGERLNGLQTLGENIADNGGLKAAYNAYKAWLRKHGEEQPLPAVGLTNHQLFFVGFAQVWCSVRTPESSHEGLVTDPHSPARFRVLGTLSNSRDFLRHFGCPVGSPMNPGQLCEVW", "length": 881 }, "evidence": [ { "id": "P0DPD6", "url": "https://omabrowser.org/oma/group/P0DPD6/", "database": "OMA" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "Q9W5Y0-1", "protein_name": "Neprilysin-3", "gene_name": "Nep3", "tax_id": 7227, "organism": "Drosophila melanogaster", "sequence": { "sequence": "MTRYKQTEFTEDDSSSIGGIQLNEATGHTGMQIRYHTARATWNWRSRNKTEKWLLITTFVMAITIFTLLIVLFTDGGSSDATKHVLHVQPHQKDCPSGNELPCLNKHCIFASSEILKSIDVTVDPCDDFYGYSCNQWIKNNPIPEGKSTWGTFGKLEQMNQLIIRNVLEKPAKSFKSDAERKAKVYYESCLDADEHMEKLGAKPMNDLLLQIGGWNVTKSGYNVANWTMGHTLKILHNKYNFNCLFGWAIGEDDKNSSRHVIQIDQGGLTLPTADYYNNKTDNHRKVLNEYIEYMTKVCVLLGANESDARAQMIGVINFEKKLANITIPLEDRRNEEAMYHPMQLRQLSKLAPFLNWTDHFDNAMQMVGRRVTDDEVVVVYAPDFLKNLSDIILKMEQTEEGKITLNNYLVWQAVRTLTSCLSKPFRDAYKGVRKALMGSDGGEEIWRYCVSDTNNVVGFAVGAIFVRQAFHGESKPAAEQMIAEIREAFKMNLQNLTWVDKQTREKAIEKANQISDMIGFPDYILDPVELDKKYAELNITPNAYFENNIQVAIYNLKSNLKRLDQPVNKTNWGMTPQTVNAYYTPTKNQIVFPAGILQTPFFDINNPKSLNFGAMGVVMGHELTHAFDDQGREYDKFGNINRWWDSKSIERFNEKSECIARQYSGYKMNGRTLNGKQTLGENIADNGGLKAAYHAYQRTKSDRDVDILKLPGLNLTHSQLFFVSFAQVWCSSTTDETNLLQMEKDPHSPSQFRVIGTLSNMKEFAEVFQCKPGKRMNPTEKCEVW", "length": 786 }, "evidence": [ { "id": "P0DPD6", "url": "https://omabrowser.org/oma/group/P0DPD6/", "database": "OMA" } ], "common_name": "Fruit fly" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 4, "go_terms": [ { "name": "Golgi membrane", "id": "GO:0000139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000139", "evidence": [ { "database": "UniProtKB", "id": "P0DPD6", "url": "https://www.uniprot.org/uniprot/P0DPD6" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P0DPD6", "url": "https://www.uniprot.org/uniprot/P0DPD6" } ], "pmid": "" }, { "name": "transport vesicle membrane", "id": "GO:0030658", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030658", "evidence": [ { "database": "UniProtKB", "id": "P0DPD6", "url": "https://www.uniprot.org/uniprot/P0DPD6" } ], "pmid": "" }, { "name": "cytoplasmic vesicle membrane", "id": "GO:0030659", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030659", "evidence": [ { "database": "UniProtKB", "id": "P0DPD6", "url": "https://www.uniprot.org/uniprot/P0DPD6" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 3, "go_terms": [ { "name": "metalloendopeptidase activity", "id": "GO:0004222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004222", "evidence": [ { "database": "UniProtKB", "id": "P0DPD6", "url": "https://www.uniprot.org/uniprot/P0DPD6" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "P0DPD6", "url": "https://www.uniprot.org/uniprot/P0DPD6" } ], "pmid": "" }, { "name": "methyltransferase activity", "id": "GO:0008168", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008168", "evidence": [ { "database": "UniProtKB", "id": "P0DPD6", "url": "https://www.uniprot.org/uniprot/P0DPD6" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 5, "go_terms": [ { "name": "G protein-coupled receptor signaling pathway", "id": "GO:0007186", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007186", "evidence": [ { "database": "UniProtKB", "id": "P0DPD6", "url": "https://www.uniprot.org/uniprot/P0DPD6" } ], "pmid": "" }, { "name": "cell-cell signaling", "id": "GO:0007267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007267", "evidence": [ { "database": "UniProtKB", "id": "P0DPD6", "url": "https://www.uniprot.org/uniprot/P0DPD6" } ], "pmid": "" }, { "name": "protein processing", "id": "GO:0016485", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016485", "evidence": [ { "database": "UniProtKB", "id": "P0DPD6", "url": "https://www.uniprot.org/uniprot/P0DPD6" } ], "pmid": "" }, { "name": "peptide hormone processing", "id": "GO:0016486", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016486", "evidence": [ { "database": "UniProtKB", "id": "P0DPD6", "url": "https://www.uniprot.org/uniprot/P0DPD6" } ], "pmid": "" }, { "name": "methylation", "id": "GO:0032259", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032259", "evidence": [ { "database": "UniProtKB", "id": "P0DPD6", "url": "https://www.uniprot.org/uniprot/P0DPD6" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 207, "end_pos": 209, "annotation": "n_glycosylation_sequon" }, { "start_pos": 211, "end_pos": 213, "annotation": "n_glycosylation_sequon" }, { "start_pos": 252, "end_pos": 254, "annotation": "n_glycosylation_sequon" }, { "start_pos": 312, "end_pos": 314, "annotation": "n_glycosylation_sequon" }, { "start_pos": 357, "end_pos": 359, "annotation": "n_glycosylation_sequon" }, { "start_pos": 424, "end_pos": 426, "annotation": "n_glycosylation_sequon" }, { "start_pos": 580, "end_pos": 582, "annotation": "n_glycosylation_sequon" }, { "start_pos": 673, "end_pos": 675, "annotation": "n_glycosylation_sequon" }, { "start_pos": 681, "end_pos": 683, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "R-HSA-8877620", "name": "ECE2 cleaves EDN1(53-90)", "equation": "", "summary": "Endothelin-converting enzyme 2 (ECE2) belongs to the type II membrane-bound zinc metalloprotease family and shares 59% sequence similarity to ECE1 (Emoto & Yanagisawa1995, Yanagisawa et al. 2000, Lorenzo et al. 2001). In contrast to ECE1, the optimum pH for ECE2 activity is acidic (pH 5.5), which would favor an intracellular localization and a potential role under low pH conditions, for example in ischemia. This difference provides an experimental method for distinguishing between the activities of the two enzymes. ECE2 was found to be localized to the acidified environment of vesicles of the secretory pathway in human endothelial cells but was not detected in Weibel-Palade storage granules (Russell & Davenport 1999).", "cellular_location": "extracellular region, plasma membrane", "input_participant_list": [ "R-HSA-8878413" ], "output_participant_list": [ "R-HSA-8878414" ], "enzyme_list": [ "P0DPD6-4" ], "evidence": [ { "id": "R-HSA-8877620", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8877620" } ] } ], "reaction_participants": [ { "participant_id": "R-HSA-8878413", "participant_name": "EDN1(53-90) [transport vesicle]", "crossref": [ { "id": "P05305", "database": "UniProt", "url": "" }, { "id": "ENSG00000078401-EDN1", "database": "HPA", "url": "" }, { "id": "8HCQ", "database": "PDB", "url": "" }, { "id": "1T7H", "database": "PDB", "url": "" }, { "id": "P05305", "database": "GeneCards", "url": "" }, { "id": "XP_016865820.1", "database": "RefSeq", "url": "" }, { "id": "XP_011512633.1", "database": "RefSeq", "url": "" }, { "id": "6DK5", "database": "PDB", "url": "" }, { "id": "1EDP", "database": "PDB", "url": "" }, { "id": "P05305", "database": "Pharos - Targets", "url": "" }, { "id": "ENST00000379375", "database": "Ensembl", "url": "" }, { "id": "ENSG00000078401", "database": "Ensembl", "url": "" }, { "id": "P05305", "database": "PRO", "url": "" }, { "id": "XP_011512632.1", "database": "RefSeq", "url": "" }, { "id": "ENSP00000368683", "database": "Ensembl", "url": "" }, { "id": "5GLH", "database": "PDB", "url": "" }, { "id": "NP_001946.3", "database": "RefSeq", "url": "" }, { "id": "1EDN", "database": "PDB", "url": "" }, { "id": "22577", "database": "Orphanet", "url": "" }, { "id": "HMDBP02088", "database": "HMDB Protein", "url": "" }, { "id": "8HCX", "database": "PDB", "url": "" }, { "id": "1V6R", "database": "PDB", "url": "" }, { "id": "NP_001161791.1", "database": "RefSeq", "url": "" }, { "id": "ENSG00000078401", "database": "OpenTargets", "url": "" } ] }, { "participant_id": "R-HSA-8878414", "participant_name": "EDN1 [transport vesicle]", "crossref": [ { "id": "ENSG00000078401", "database": "Ensembl", "url": "" }, { "id": "1T7H", "database": "PDB", "url": "" }, { "id": "HMDBP02088", "database": "HMDB Protein", "url": "" }, { "id": "ENSG00000078401", "database": "OpenTargets", "url": "" }, { "id": "6DK5", "database": "PDB", "url": "" }, { "id": "5GLH", "database": "PDB", "url": "" }, { "id": "ENSG00000078401-EDN1", "database": "HPA", "url": "" }, { "id": "1EDN", "database": "PDB", "url": "" }, { "id": "P05305", "database": "Pharos - Targets", "url": "" }, { "id": "1V6R", "database": "PDB", "url": "" }, { "id": "XP_016865820.1", "database": "RefSeq", "url": "" }, { "id": "XP_011512632.1", "database": "RefSeq", "url": "" }, { "id": "P05305", "database": "UniProt", "url": "" }, { "id": "NP_001946.3", "database": "RefSeq", "url": "" }, { "id": "1EDP", "database": "PDB", "url": "" }, { "id": "8HCX", "database": "PDB", "url": "" }, { "id": "P05305", "database": "GeneCards", "url": "" }, { "id": "P05305", "database": "PRO", "url": "" }, { "id": "NP_001161791.1", "database": "RefSeq", "url": "" }, { "id": "XP_011512633.1", "database": "RefSeq", "url": "" }, { "id": "ENSP00000368683", "database": "Ensembl", "url": "" }, { "id": "8HCQ", "database": "PDB", "url": "" }, { "id": "22577", "database": "Orphanet", "url": "" }, { "id": "ENST00000379375", "database": "Ensembl", "url": "" } ] } ], "reaction_enzymes": [ { "uniprot_ac": "P0DPD6", "gene_name": "ECE2", "activity": [ { "ec_number": "3.4.24.71", "activity": "Hydrolysis of the 21-Trp-|-Val-22 bond in big endothelin to form endothelin 1.", "evidence": [ { "id": "P0DPD6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P0DPD6" } ] }, { "ec_number": "3.4.24.71", "activity": "", "evidence": [ { "id": "P0DPD6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P0DPD6" } ] } ] } ], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "sequence_features": { "n_linked_sites": [ 207, 211, 252, 312, 357, 424, 580, 673, 681 ], "o_linked_sites": [], "snv_sites": [ 93, 199, 207, 209, 212, 213, 254, 263, 293, 312, 376, 403, 426, 442, 463, 466, 580, 640, 673, 683, 693 ], "glycation_sites": [], "phosphorylation_sites": [], "sequon_annotation_sites": [ { "start_pos": 207, "end_pos": 209 }, { "start_pos": 211, "end_pos": 213 }, { "start_pos": 252, "end_pos": 254 }, { "start_pos": 312, "end_pos": 314 }, { "start_pos": 357, "end_pos": 359 }, { "start_pos": 424, "end_pos": 426 }, { "start_pos": 580, "end_pos": 582 }, { "start_pos": 673, "end_pos": 675 }, { "start_pos": 681, "end_pos": 683 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 10 }, { "field": "total_sites", "count": 10 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 9 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 9 }, { "field": "total_sites", "count": 9 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 9 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 25 }, { "field": "total_sites", "count": 21 } ], "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": 4 }, { "field": "total_sites", "count": 3 } ], "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": 21 }, { "field": "total_sites", "count": 18 } ], "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": 95 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }