{ "uniprot_canonical_ac": "O95497-1", "uniprot_ac": "O95497", "uniprot_id": "VNN1_HUMAN", "mass": { "chemical_mass": 57012.0, "monoisotopic_mass": 57012.0 }, "refseq": { "ac": "NP_004657", "name": "pantetheinase precursor", "summary": "This gene encodes a member of the vanin family of proteins, which share extensive sequence similarity with each other, and also with biotinidase. The family includes secreted and membrane-associated proteins, a few of which have been reported to participate in hematopoietic cell trafficking. No biotinidase activity has been demonstrated for any of the vanin proteins, however, they possess pantetheinase activity, which may play a role in oxidative-stress response. This protein, like its mouse homolog, is likely a GPI-anchored cell surface molecule. The mouse protein is expressed by the perivascular thymic stromal cells and regulates migration of T-cell progenitors to the thymus. This gene lies in close proximity to, and in the same transcriptional orientation as, two other vanin genes on chromosome 6q23-q24. [provided by RefSeq, Feb 2009].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004657" }, "gene_names": [ { "name": "VNN1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O95497", "id": "O95497" }, { "name": "HDLCQ8; Tiff66", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004657", "id": "NP_004657" }, { "name": "VNN1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004657", "id": "NP_004657" } ], "protein_names": [ { "name": "Pantetheinase", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O95497" }, { "name": "3.5.1.92", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95497" }, { "name": "Pantetheine hydrolase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95497" }, { "name": "Tiff66", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95497" }, { "name": "Vanin-1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95497" }, { "name": "Vascular non-inflammatory molecule 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95497" }, { "name": "pantetheinase precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004657", "id": "NP_004657" }, { "name": "pantetheinase; vannin 1; pantetheine hydrolase; vascular non-inflammatory molecule 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004657", "id": "NP_004657" } ], "function": [ { "annotation": "Amidohydrolase that hydrolyzes specifically one of the carboamide linkages in D-pantetheine thus recycling pantothenic acid (vitamin B5) and releasing cysteamine.", "evidence": [ { "database": "UniProtKB", "id": "O95497", "url": "https://www.uniprot.org/uniprot/O95497#function" }, { "database": "PubMed", "id": "11491533", "url": "https://glygen.org/publication/PubMed/11491533" }, { "database": "PubMed", "id": "25478849", "url": "https://glygen.org/publication/PubMed/25478849" }, { "database": "PubMed", "id": "10567687", "url": "https://glygen.org/publication/PubMed/10567687" } ] }, { "annotation": "Near-Infrared Fluorescent Probe for Imaging and Evaluating the Role of Vanin-1 in Chemotherapy.", "evidence": [ { "database": "RefSeq", "id": "NP_004657", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004657" }, { "database": "PubMed", "id": "34275284", "url": "https://glygen.org/publication/PubMed/34275284" } ] }, { "annotation": "Pancreatic ductal deletion of S100A9 alleviates acute pancreatitis by targeting VNN1-mediated ROS release to inhibit NLRP3 activation. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_004657", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004657" }, { "database": "PubMed", "id": "33754072", "url": "https://glygen.org/publication/PubMed/33754072" } ] }, { "annotation": "This gene encodes a member of the vanin family of proteins, which share extensive sequence similarity with each other, and also with biotinidase. The family includes secreted and membrane-associated proteins, a few of which have been reported to participate in hematopoietic cell trafficking. No biotinidase activity has been demonstrated for any of the vanin proteins, however, they possess pantetheinase activity, which may play a role in oxidative-stress response. This protein, like its mouse homolog, is likely a GPI-anchored cell surface molecule. The mouse protein is expressed by the perivascular thymic stromal cells and regulates migration of T-cell progenitors to the thymus. This gene lies in close proximity to, and in the same transcriptional orientation as, two other vanin genes on chromosome 6q23-q24. [provided by RefSeq, Feb 2009].", "evidence": [ { "database": "RefSeq", "id": "NP_004657", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004657" } ] }, { "annotation": "This review discusses the role of vanin 1 in the liver, kidney, intestine, and lung under physiological as well as pathophysiological conditions. [review] Review article Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_004657", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004657" }, { "database": "PubMed", "id": "31404995", "url": "https://glygen.org/publication/PubMed/31404995" } ] }, { "annotation": "Urinary vanin-1 for predicting acute pyelonephritis in young children with urinary tract infection: a pilot study.", "evidence": [ { "database": "RefSeq", "id": "NP_004657", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004657" }, { "database": "PubMed", "id": "33656956", "url": "https://glygen.org/publication/PubMed/33656956" } ] }, { "annotation": "Urinary vanin-1 is a useful biomarker to detect and monitor the clinical course of obstructive nephropathy. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_004657", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004657" }, { "database": "PubMed", "id": "30791405", "url": "https://glygen.org/publication/PubMed/30791405" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs201169889", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201169889" }, { "id": "rs201169889", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201169889" }, { "id": "rs201169889", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs201169889#frequency_tab" }, { "id": "rs201169889", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs201169889" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 130, "end_pos": 130, "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NNS->DNS).", "chr_id": "6", "chr_pos": "132694136", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N130", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs956333170", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs956333170" }, { "id": "rs956333170", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs956333170" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 130, "end_pos": 130, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NNS->SNS).", "chr_id": "6", "chr_pos": "132694135", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N130", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1333333303", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1333333303" }, { "id": "rs1333333303", "database": "TOPMed", "url": 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"start_pos": 133, "end_pos": 133, "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NSI->NST).", "chr_id": "6", "chr_pos": "132694126", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I133", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O95497", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O95497" }, { "id": "rs45624336", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs45624336" }, { "id": "rs45624336", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs45624336" }, { "id": "rs45624336", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs45624336" }, { "id": "rs45624336", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs45624336#frequency_tab" }, { "id": "rs45624336", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs45624336" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 146, "end_pos": 146, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (DTS->NTS).", "chr_id": "6", "chr_pos": "132694088", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D146", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": 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"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, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "No", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O95497", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95497" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O95497", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95497" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "O95497", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95497" } ], "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/O95497" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "No", "trend": "down", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "O95497", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95497" } ], "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": "No", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O95497", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95497" } ], "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": "O95497", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95497" } ], "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": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "O95497", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95497" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "O95497", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95497" } ], "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": 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Cloning, functional expression, gene structure, and chromosomal localization.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Wang H, Huang W, Fei YJ, Xia H, Yang-Feng TL, Leibach FH, Devoe LD, Ganapathy V, Prasad PD", "evidence": [ { "database": "Reactome", "id": "R-HSA-199220", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-199220" } ], "reference": [ { "type": "PubMed", "id": "10329687", "url": "https://glygen.org/publication/PubMed/10329687" } ] }, { "title": "Molecular and functional characterization of the intestinal Na+-dependent multivitamin transporter.", "journal": "Archives of biochemistry and biophysics", "date": "1999", "authors": "Prasad PD, Wang H, Huang W, Fei YJ, Leibach FH, Devoe LD, Ganapathy V", "evidence": [ { "database": "Reactome", "id": "R-HSA-199220", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-199220" } ], "reference": [ { "type": "PubMed", "id": "10334869", "url": 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"UniProtKB", "id": "O95497", "url": "https://www.uniprot.org/uniprot/O95497" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 10, "go_terms": [ { "name": "inflammatory response", "id": "GO:0006954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006954", "evidence": [ { "database": "UniProtKB", "id": "O95497", "url": "https://www.uniprot.org/uniprot/O95497" } ], "pmid": "" }, { "name": "response to oxidative stress", "id": "GO:0006979", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006979", "evidence": [ { "database": "UniProtKB", "id": "O95497", "url": "https://www.uniprot.org/uniprot/O95497" } ], "pmid": "" }, { "name": "pantothenate metabolic process", "id": "GO:0015939", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015939", "evidence": [ { "database": "UniProtKB", "id": "O95497", "url": "https://www.uniprot.org/uniprot/O95497" } ], "pmid": "" }, { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "O95497", "url": "https://www.uniprot.org/uniprot/O95497" } ], "pmid": "" }, { "name": "positive regulation of T cell differentiation in thymus", "id": "GO:0033089", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033089", "evidence": [ { "database": "UniProtKB", "id": "O95497", "url": "https://www.uniprot.org/uniprot/O95497" } ], "pmid": "" }, { "name": "cell-cell adhesion", "id": "GO:0098609", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098609", "evidence": [ { "database": "UniProtKB", "id": "O95497", "url": "https://www.uniprot.org/uniprot/O95497" } ], "pmid": "" }, { "name": "acute inflammatory response", "id": "GO:0002526", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002526", "evidence": [ { "database": "UniProtKB", "id": "O95497", "url": "https://www.uniprot.org/uniprot/O95497" } ], "pmid": "" }, { "name": "chronic inflammatory response", "id": "GO:0002544", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002544", "evidence": [ { "database": "UniProtKB", "id": "O95497", "url": "https://www.uniprot.org/uniprot/O95497" } ], "pmid": "" }, { "name": "positive regulation of oxidative stress-induced intrinsic apoptotic signaling pathway", "id": "GO:1902177", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902177", "evidence": [ { "database": "UniProtKB", "id": "O95497", "url": "https://www.uniprot.org/uniprot/O95497" } ], "pmid": "" }, { "name": "coenzyme A catabolic process", "id": "GO:0015938", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015938", "evidence": [ { "database": "UniProtKB", "id": "O95497", "url": "https://www.uniprot.org/uniprot/O95497" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 1, "go_terms": [ { "name": "pantetheine hydrolase activity", "id": "GO:0017159", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017159", "evidence": [ { "database": "UniProtKB", "id": "O95497", "url": "https://www.uniprot.org/uniprot/O95497" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 130, "end_pos": 132, "annotation": "n_glycosylation_sequon" }, { "start_pos": 200, "end_pos": 202, "annotation": "n_glycosylation_sequon" }, { "start_pos": 283, "end_pos": 285, "annotation": "n_glycosylation_sequon" }, { "start_pos": 315, "end_pos": 317, "annotation": "n_glycosylation_sequon" }, { "start_pos": 353, "end_pos": 355, "annotation": "n_glycosylation_sequon" }, { "start_pos": 38, "end_pos": 40, "annotation": "n_glycosylation_sequon" }, { "start_pos": 487, "end_pos": 489, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "13445", "name": "", "equation": "(R)-pantetheine + H2O = (R)-pantothenate + cysteamine", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q4KLZ0-1", "O95497-1", "O95498-1", "Q9Z0K8-1" ], "evidence": [ { "id": "13445", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/13445" } ] }, { "id": "R-HSA-6798739", "name": "Exocytosis of azurophil granule membrane proteins", "equation": "", "summary": "Azurophil or primary granules were originally defined by their high content of myeloperoxidase (MPO) and their affinity for the basic dye azure A (Spicer & Hardin 1969). Azurophil granules are generally described as spherical. Like lysosomes, they contain CD63 in their membrane (Cham et al. 1994) but are regarded as specialized secretory granules rather than lysosomes (Cieutat et al. 1998). Azurophil granules undergo limited exocytosis in response to stimulation (Sengelov et al. 1993, Faurschou et al. 2002), their primary role is believed to be killing and degradation of engulfed microbes in the phagolysosome (Joiner et al. 1989).", "cellular_location": "plasma membrane, azurophil granule membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P51148-1", "P42785-1", "P61224-1", "P49768-1", "Q86UQ4-1", "Q9Y2Q0-1", "Q9Y2G3-1", "P10253-1", "P15291-1", "O95497-1", "Q8NF37-1", "O00462-1", "P10620-1", "P15309-1" ], "evidence": [ { "id": "R-HSA-6798739", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6798739" } ] }, { "id": "R-HSA-8938300", "name": "Vanin hydrolyses pantetheine to PanK, 2AET", "equation": "", "summary": "Vanin (VNN1) is a membrane pantetheine hydrolase or pantetheinase (EC 3.56.1.-) (Maras et al. 1999, Martin et al. 2001), part of a cluster of three human orthologous genes (VNN1, VNN2, VNN3) on Chr. 6q22-24 (Kaskow et al. 2012, Boersma et al. 2014). VNN3 is a pseudogene in humans. Vanins catalyse the hydrolysis of pantetheine to pantothenic acid (PanK, vitamin B5) and cysteamine (2AET), a powerful anti-oxidant. PanK is the initial substrate for the synthesis of Coenzyme A (CoA-SH).

Mouse Vnn1 has been shown to be GPI-anchored to the outer face of the plasma membrane. Sequence motifs conserved with human VNN1 and VNN2 supports the inference that the human proteins are similarly anchored (Aurand-Lions et al. 1996; Naquet et al. 2020), so the enzymes are annotated as acting on extracellular panthetheine to generate extracellular PanK and 2AET.
", "cellular_location": "cytosol, plasma membrane", "input_participant_list": [ "R-ALL-8939157" ], "output_participant_list": [ "R-ALL-9837424" ], "enzyme_list": [ "O95497-1", "O95498-1" ], "evidence": [ { "id": "R-HSA-8938300", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8938300" } ] }, { "id": "R-HSA-8940388", "name": "GPLD1 hydrolyses GPI-anchors from proteins", "equation": "", "summary": "Some proteins function at the cell's surface, attached to the plasma membrane via GPI (glycosylphosphatidylinositol) anchors and include enzymes, receptors, cell adhesion molecules and antigens. These GPI-anchored proteins participate in many important cellular functions including immune recognition, complement regulation and intracellular signaling. Phosphatidylinositol-glycan-specific phospholipase D (GPLD1) (Schofield et al. 2000) is a secreted protein that specifically cleaves GPI-anchored proteins by cleaving the linkage between the phosphate and inositol in GPI (Davitz et al. 1987, Low & Prasad 1988). In addition, it also localises to the ER where it can cleave GPI anchor intermediates transiting to the plasma membrane (not shown here). GPLD1 may play a role in the regulation of GPI-anchored proteins on (intra)cellular membranes.", "cellular_location": "extracellular region, plasma membrane", "input_participant_list": [], "output_participant_list": [ "R-ALL-2197633" ], "enzyme_list": [ "Q7RTY9-1", "Q9Y6M0-1", "O43895-1", "Q13508-1", "P80108-1", "P10696-1", "Q93070-1", "O95497-1", "O95498-1", "Q10588-1", "P14384-1", "P09923-1", "P05186-1" ], "evidence": [ { "id": "R-HSA-8940388", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8940388" } ] } ], "reaction_participants": [ { "participant_id": "R-ALL-2197633", "participant_name": "PI [extracellular region]", "crossref": [ { "id": "57880", "database": "ChEBI", "url": "" }, { "id": "57880", "database": "ChEBI", "url": "" }, { "id": "57880", "database": "ChEBI", "url": "" }, { "id": "57880", "database": "ChEBI", "url": "" }, { "id": "57880", "database": "ChEBI", "url": "" }, { "id": "57880", "database": "ChEBI", "url": "" } ] }, { "participant_id": "R-ALL-8939157", "participant_name": "Pantetheine [extracellular region]", "crossref": [ { "id": "16753", "database": "ChEBI", "url": "" }, { "id": "C00831", "database": "COMPOUND", "url": "" }, { "id": "000003869684", "database": "ZINC", "url": "" }, { "id": "HMDB0003426", "database": "HMDB Metabolite", "url": "" }, { "id": "16753", "database": "ChEBI", "url": "" }, { "id": "HMDB0003426", "database": "HMDB Metabolite", "url": "" }, { "id": "C00831", "database": "COMPOUND", "url": "" }, { "id": "000003869684", "database": "ZINC", "url": "" }, { "id": "C00831", "database": "COMPOUND", "url": "" }, { "id": "16753", "database": "ChEBI", "url": "" }, { "id": "000003869684", "database": "ZINC", "url": "" }, { "id": "HMDB0003426", "database": "HMDB Metabolite", "url": "" }, { "id": "16753", "database": "ChEBI", "url": "" }, { "id": "HMDB0003426", "database": "HMDB Metabolite", "url": "" }, { "id": "C00831", "database": "COMPOUND", "url": "" }, { "id": "000003869684", "database": "ZINC", "url": "" }, { "id": "C00831", "database": "COMPOUND", "url": "" }, { "id": "16753", "database": "ChEBI", "url": "" }, { "id": "000003869684", "database": "ZINC", "url": "" }, { "id": "HMDB0003426", "database": "HMDB Metabolite", "url": "" } ] }, { "participant_id": "R-ALL-9837424", "participant_name": "2AET [extracellular region]", "crossref": [ { "id": "58029", "database": "ChEBI", "url": "" }, { "id": "000008034121", "database": "ZINC", "url": "" }, { "id": "000008034121", "database": "ZINC", "url": "" }, { "id": "58029", "database": "ChEBI", "url": "" }, { "id": "58029", "database": "ChEBI", "url": "" }, { "id": "000008034121", "database": "ZINC", "url": "" }, { "id": "58029", "database": "ChEBI", "url": "" }, { "id": "000008034121", "database": "ZINC", "url": "" }, { "id": "58029", "database": "ChEBI", "url": "" }, { "id": "000008034121", "database": "ZINC", "url": "" } ] } ], "reaction_enzymes": [ { "uniprot_ac": "O00462", "gene_name": "MANBA", "activity": [ { "ec_number": "3.2.1.25", "activity": "Hydrolysis of terminal, non-reducing beta-D-mannose residues in beta-D-mannosides.", "evidence": [ { "id": "O00462", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O00462" } ] }, { "ec_number": "3.2.1.25", "activity": "", "evidence": [ { "id": "O00462", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O00462" } ] } ] }, { "uniprot_ac": "O43895", "gene_name": "XPNPEP2", "activity": [ { "ec_number": "3.4.11.9", "activity": "Release of any N-terminal amino acid, including proline, that is linked to proline, even from a dipeptide or tripeptide.", "evidence": [ { "id": "O43895", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O43895" } ] }, { "ec_number": "3.4.11.9", "activity": "", "evidence": [ { "id": "O43895", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O43895" } ] } ] }, { "uniprot_ac": "O95497", "gene_name": "VNN1", "activity": [ { "ec_number": "3.5.1.92", "activity": "(R)-pantetheine + H2O = (R)-pantothenate + cysteamine.", "evidence": [ { "id": "O95497", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O95497" } ] }, { "ec_number": "3.5.1.92", "activity": "", "evidence": [ { "id": "O95497", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O95497" } ] } ] }, { "uniprot_ac": "O95498", "gene_name": "VNN2", "activity": [ { "ec_number": "3.5.1.92", "activity": "(R)-pantetheine + H2O = (R)-pantothenate + cysteamine.", "evidence": [ { "id": "O95498", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O95498" } ] }, { "ec_number": "3.5.1.92", "activity": "", "evidence": [ { "id": "O95498", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O95498" } ] } ] }, { "uniprot_ac": "P05186", "gene_name": "ALPL", "activity": [ { "ec_number": "3.1.3.1", "activity": "a phosphate monoester + H2O = an alcohol + phosphate.", "evidence": [ { "id": "P05186", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P05186" } ] }, { "ec_number": "3.9.1.1", "activity": "H2O + N-phosphocreatine = creatine + phosphate.", "evidence": [ { "id": "P05186", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P05186" } ] }, { "ec_number": "3.1.3.1", "activity": "", "evidence": [ { "id": "P05186", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P05186" } ] }, { "ec_number": "3.9.1.1", "activity": "", "evidence": [ { "id": "P05186", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P05186" } ] } ] }, { "uniprot_ac": "P09923", "gene_name": "ALPI", "activity": [ { "ec_number": "3.1.3.1", "activity": "a phosphate monoester + H2O = an alcohol + phosphate.", "evidence": [ { "id": "P09923", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P09923" } ] }, { "ec_number": "3.1.3.1", "activity": "", "evidence": [ { "id": "P09923", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P09923" } ] } ] }, { "uniprot_ac": "P10253", "gene_name": "GAA", "activity": [ { "ec_number": "3.2.1.20", "activity": "Hydrolysis of terminal, non-reducing (1->4)-linked alpha-D-glucose residues with release of alpha-D-glucose.", "evidence": [ { "id": "P10253", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P10253" } ] }, { "ec_number": "3.2.1.20", "activity": "", "evidence": [ { "id": "P10253", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P10253" } ] } ] }, { "uniprot_ac": "P10620", "gene_name": "MGST1", "activity": [ { "ec_number": "2.5.1.18", "activity": "glutathione + RX = a halide anion + an S-substituted glutathione + H(+).", "evidence": [ { "id": "P10620", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P10620" } ] }, { "ec_number": "2.5.1.18", "activity": "", "evidence": [ { "id": "P10620", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P10620" } ] } ] }, { "uniprot_ac": "P10696", "gene_name": "ALPG", "activity": [ { "ec_number": "3.1.3.1", "activity": "a phosphate monoester + H2O = an alcohol + phosphate.", "evidence": [ { "id": "P10696", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P10696" } ] }, { "ec_number": "3.1.3.1", "activity": "", "evidence": [ { "id": "P10696", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P10696" } ] } ] }, { "uniprot_ac": "P14384", "gene_name": "CPM", "activity": [ { "ec_number": "3.4.17.12", "activity": "Cleavage of C-terminal arginine or lysine residues from polypeptides.", "evidence": [ { "id": "P14384", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P14384" } ] }, { "ec_number": "3.4.17.12", "activity": "", "evidence": [ { "id": "P14384", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P14384" } ] } ] }, { "uniprot_ac": "P15291", "gene_name": "B4GALT1", "activity": [ { "ec_number": "2.4.1.-", "activity": "", "evidence": [ { "id": "P15291", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P15291" } ] }, { "ec_number": "2.4.1.275", "activity": "a beta-D-GlcNAc-(1->3)-beta-D-Gal-(1->4)-beta-D-Glc-(1<->1)-Cer(d18:1(4E)) + UDP-alpha-D-galactose = a neolactoside nLc4Cer(d18:1(4E)) + H(+) + UDP.", "evidence": [ { "id": "P15291", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P15291" } ] }, { "ec_number": "2.4.1.22", "activity": "D-glucose + UDP-alpha-D-galactose = H(+) + lactose + UDP.", "evidence": [ { "id": "P15291", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P15291" } ] }, { "ec_number": "2.4.1.38", "activity": "an N-acetyl-beta-D-glucosaminyl derivative + UDP-alpha-D-galactose = a beta-D-galactosyl-(1->4)-N-acetyl-beta-D-glucosaminyl derivative + H(+) + UDP.", "evidence": [ { "id": "P15291", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P15291" } ] }, { "ec_number": "2.4.1.90", "activity": "N-acetyl-D-glucosamine + UDP-alpha-D-galactose = beta-D-galactosyl-(1->4)-N-acetyl-D-glucosamine + H(+) + UDP.", "evidence": [ { "id": "P15291", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P15291" } ] } ] }, { "uniprot_ac": "P15309", "gene_name": "ACP3", "activity": [ { "ec_number": "3.1.3.5", "activity": "a ribonucleoside 5'-phosphate + H2O = a ribonucleoside + phosphate.", "evidence": [ { "id": "P15309", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P15309" } ] }, { "ec_number": "3.1.3.2", "activity": "a phosphate monoester + H2O = an alcohol + phosphate.", "evidence": [ { "id": "P15309", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P15309" } ] }, { "ec_number": "3.1.3.48", "activity": "H2O + O-phospho-L-tyrosyl-[protein] = L-tyrosyl-[protein] + phosphate.", "evidence": [ { "id": "P15309", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P15309" } ] }, { "ec_number": "3.1.3.2", "activity": "", "evidence": [ { "id": "P15309", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P15309" } ] } ] }, { "uniprot_ac": "P42785", "gene_name": "PRCP", "activity": [ { "ec_number": "3.4.16.2", "activity": "Cleavage of a -Pro-|-Xaa bond to release a C-terminal amino acid.", "evidence": [ { "id": "P42785", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P42785" } ] }, { "ec_number": "3.4.16.2", "activity": "", "evidence": [ { "id": "P42785", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P42785" } ] } ] }, { "uniprot_ac": "P49768", "gene_name": "PSEN1", "activity": [ { "ec_number": "3.4.23.-", "activity": "", "evidence": [ { "id": "P49768", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P49768" } ] } ] }, { "uniprot_ac": "P51148", "gene_name": "RAB5C", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "P51148", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P51148" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "P51148", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P51148" } ] } ] }, { "uniprot_ac": "P61224", "gene_name": "RAP1B", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "P61224", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P61224" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "P61224", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P61224" } ] } ] }, { "uniprot_ac": "P80108", "gene_name": "GPLD1", "activity": [ { "ec_number": "3.1.4.50", "activity": "an alpha-D-GlcN-(1->6)-(1,2-diacyl-sn-glycero-3-phospho)-1D-myo-inositol + H2O = 6-(alpha-D-glucosaminyl)-1D-myo-inositol + a 1,2-diacyl-sn-glycero-3-phosphate + H(+).", "evidence": [ { "id": "P80108", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P80108" } ] }, { "ec_number": "3.1.4.50", "activity": "", "evidence": [ { "id": "P80108", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P80108" } ] } ] }, { "uniprot_ac": "Q10588", "gene_name": "BST1", "activity": [ { "ec_number": "3.2.2.6", "activity": "H2O + NAD(+) = ADP-D-ribose + H(+) + nicotinamide.", "evidence": [ { "id": "Q10588", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q10588" } ] }, { "ec_number": "3.2.2.6", "activity": "", "evidence": [ { "id": "Q10588", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q10588" } ] } ] }, { "uniprot_ac": "Q13508", "gene_name": "ART3", "activity": [ { "ec_number": "2.4.2.31", "activity": "L-arginyl-[protein] + NADP(+) = H(+) + N(omega)-(2'-phospho-ADP-D-ribosyl)-L-arginyl-[protein] + nicotinamide.", "evidence": [ { "id": "Q13508", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q13508" } ] }, { "ec_number": "2.4.2.31", "activity": "", "evidence": [ { "id": "Q13508", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q13508" } ] } ] }, { "uniprot_ac": "Q4KLZ0", "gene_name": "Vnn1", "activity": [ { "ec_number": "3.5.1.92", "activity": "(R)-pantetheine + H2O = (R)-pantothenate + cysteamine.", "evidence": [ { "id": "Q4KLZ0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q4KLZ0" } ] }, { "ec_number": "3.5.1.92", "activity": "", "evidence": [ { "id": "Q4KLZ0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q4KLZ0" } ] } ] }, { "uniprot_ac": "Q7RTY9", "gene_name": "PRSS41", "activity": [ { "ec_number": "3.4.21.-", "activity": "", "evidence": [ { "id": "Q7RTY9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q7RTY9" } ] } ] }, { "uniprot_ac": "Q86UQ4", "gene_name": "ABCA13", "activity": [ { "ec_number": "7.6.2.-", "activity": "", "evidence": [ { "id": "Q86UQ4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q86UQ4" } ] } ] }, { "uniprot_ac": "Q8NF37", "gene_name": "LPCAT1", "activity": [ { "ec_number": "2.3.1.51", "activity": "a 1-acyl-sn-glycero-3-phosphate + an acyl-CoA = a 1,2-diacyl-sn-glycero-3-phosphate + CoA.", "evidence": [ { "id": "Q8NF37", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8NF37" } ] }, { "ec_number": "2.3.1.23", "activity": "a 1-acyl-sn-glycero-3-phosphocholine + an acyl-CoA = a 1,2-diacyl-sn-glycero-3-phosphocholine + CoA.", "evidence": [ { "id": "Q8NF37", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8NF37" } ] }, { "ec_number": "2.3.1.67", "activity": "1-O-alkyl-sn-glycero-3-phosphocholine + acetyl-CoA = a 1-O-alkyl-2-acetyl-sn-glycero-3-phosphocholine + CoA.", "evidence": [ { "id": "Q8NF37", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8NF37" } ] }, { "ec_number": "2.3.1.25", "activity": "1-O-(1Z-alkenyl)-sn-glycero-3-phosphocholine + an acyl-CoA = 1-O-(1Z-alkenyl)-2-acyl-sn-glycero-3-phosphocholine + CoA.", "evidence": [ { "id": "Q8NF37", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8NF37" } ] }, { "ec_number": "2.3.1.23", "activity": "", "evidence": [ { "id": "Q8NF37", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8NF37" } ] } ] }, { "uniprot_ac": "Q93070", "gene_name": "ART4", "activity": [ { "ec_number": "2.4.2.31", "activity": "L-arginyl-[protein] + NADP(+) = H(+) + N(omega)-(2'-phospho-ADP-D-ribosyl)-L-arginyl-[protein] + nicotinamide.", "evidence": [ { "id": "Q93070", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q93070" } ] }, { "ec_number": "2.4.2.31", "activity": "", "evidence": [ { "id": "Q93070", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q93070" } ] } ] }, { "uniprot_ac": "Q9Y2G3", "gene_name": "ATP11B", "activity": [ { "ec_number": "7.6.2.1", "activity": "ATP + H2O + phospholipidSide 1 = ADP + phosphate + phospholipidSide 2.", "evidence": [ { "id": "Q9Y2G3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9Y2G3" } ] }, { "ec_number": "7.6.2.1", "activity": "", "evidence": [ { "id": "Q9Y2G3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9Y2G3" } ] } ] }, { "uniprot_ac": "Q9Y2Q0", "gene_name": "ATP8A1", "activity": [ { "ec_number": "7.6.2.1", "activity": "ATP + H2O + phospholipidSide 1 = ADP + phosphate + phospholipidSide 2.", "evidence": [ { "id": "Q9Y2Q0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9Y2Q0" } ] }, { "ec_number": "7.6.2.1", "activity": "", "evidence": [ { "id": "Q9Y2Q0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9Y2Q0" } ] } ] }, { "uniprot_ac": "Q9Y6M0", "gene_name": "PRSS21", "activity": [ { "ec_number": "3.4.21.-", "activity": "", "evidence": [ { "id": "Q9Y6M0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9Y6M0" } ] } ] }, { "uniprot_ac": "Q9Z0K8", "gene_name": "Vnn1", "activity": [ { "ec_number": "3.5.1.92", "activity": "(R)-pantetheine + H2O = (R)-pantothenate + cysteamine.", "evidence": [ { "id": "Q9Z0K8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9Z0K8" } ] }, { "ec_number": "3.5.1.92", "activity": "", "evidence": [ { "id": "Q9Z0K8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9Z0K8" } ] } ] } ], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "sequence_features": { "n_linked_sites": [ 38, 130, 200, 283, 315, 353, 487 ], "o_linked_sites": [], "snv_sites": [ 26, 38, 56, 88, 130, 132, 133, 146, 191, 200, 202, 242, 283, 315, 317, 353, 355, 364, 459, 489 ], "glycation_sites": [], "phosphorylation_sites": [], "sequon_annotation_sites": [ { "start_pos": 130, "end_pos": 132 }, { "start_pos": 200, "end_pos": 202 }, { "start_pos": 283, "end_pos": 285 }, { "start_pos": 315, "end_pos": 317 }, { "start_pos": 353, "end_pos": 355 }, { "start_pos": 38, "end_pos": 40 }, { "start_pos": 487, "end_pos": 489 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 19 }, { "field": "total_sites", "count": 7 }, { "field": "n_linked_glycans", "count": 12 }, { "field": "n_linked_glycan_sites", "count": 10 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 6 }, { "field": "total_sites", "count": 6 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 6 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 13 }, { "field": "total_sites", "count": 4 }, { "field": "n_linked_glycans", "count": 12 }, { "field": "n_linked_glycan_sites", "count": 4 }, { "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_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 24 }, { "field": "total_sites", "count": 20 } ], "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": 6 }, { "field": "total_sites", "count": 6 } ], "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": 18 }, { "field": "total_sites", "count": 15 } ], "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": 35 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }