{ "uniprot_canonical_ac": "O95498-1", "uniprot_ac": "O95498", "uniprot_id": "VNN2_HUMAN", "mass": { "chemical_mass": 58503.0, "monoisotopic_mass": 58503.0 }, "refseq": { "ac": "NP_001229279", "name": "pantetheine hydrolase VNN2 isoform 3 precursor", "summary": "This gene product is a member of the Vanin family of proteins that 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. The encoded protein is a GPI-anchored cell surface molecule that plays a role in transendothelial migration of neutrophils. This gene lies in close proximity to, and in same transcriptional orientation as two other vanin genes on chromosome 6q23-q24. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, May 2011].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001229279" }, "gene_names": [ { "name": "VNN2", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O95498", "id": "O95498" }, { "name": "FOAP-4; GPI-80", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001229279", "id": "NP_001229279" }, { "name": "VNN2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001229279", "id": "NP_001229279" } ], "protein_names": [ { "name": "Pantetheine hydrolase VNN2", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O95498" }, { "name": "3.5.1.92", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95498" }, { "name": "Glycosylphosphatidyl inositol-anchored protein GPI-80", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95498" }, { "name": "Protein FOAP-4", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95498" }, { "name": "Vanin-2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95498" }, { "name": "Vannin 2; pantetheinase; vascular non-inflammatory molecule 2; pantetheine hydrolase VNN2; glycosylphosphatidyl inositol-anchored protein GPI-80", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001229279", "id": "NP_001229279" }, { "name": "Vascular non-inflammatory molecule 2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95498" }, { "name": "pantetheine hydrolase VNN2 isoform 3 precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001229279", "id": "NP_001229279" } ], "function": [ { "annotation": "Amidohydrolase that hydrolyzes specifically one of the carboamide linkages in D-pantetheine thus recycling pantothenic acid (vitamin B5) and releasing cysteamine (PubMed:11491533). Involved in the thymus homing of bone marrow cells. May regulate beta-2 integrin-mediated cell adhesion, migration and motility of neutrophil.", "evidence": [ { "database": "UniProtKB", "id": "O95498", "url": "https://www.uniprot.org/uniprot/O95498#function" }, { "database": "PubMed", "id": "11491533", "url": "https://glygen.org/publication/PubMed/11491533" } ] }, { "annotation": "GPI-80 Augments NF-kappaB Activation in Tumor Cells. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001229279", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001229279" }, { "database": "PubMed", "id": "34769456", "url": "https://glygen.org/publication/PubMed/34769456" } ] }, { "annotation": "Low VNN2 expression is associated with invasion of osteosarcoma.", "evidence": [ { "database": "RefSeq", "id": "NP_001229279", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001229279" }, { "database": "PubMed", "id": "30066949", "url": "https://glygen.org/publication/PubMed/30066949" } ] }, { "annotation": "The expression of GPI-80 on myeloid cells, a useful index for the heterogeneity of Myeloid-derived suppressor cells, serves as a potential prognostic biomarker for Metastatic Renal Cell Carcinoma.", "evidence": [ { "database": "RefSeq", "id": "NP_001229279", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001229279" }, { "database": "PubMed", "id": "31776298", "url": "https://glygen.org/publication/PubMed/31776298" } ] }, { "annotation": "The hematopoietic stem cell marker VNN2 is associated with chemoresistance in pediatric B-cell precursor ALL. Erratum:[Blood Adv. 2022 Apr 26;6(8):2700. PMID: 35467707]", "evidence": [ { "database": "RefSeq", "id": "NP_001229279", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001229279" }, { "database": "PubMed", "id": "32853382", "url": "https://glygen.org/publication/PubMed/32853382" } ] }, { "annotation": "This gene product is a member of the Vanin family of proteins that 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. The encoded protein is a GPI-anchored cell surface molecule that plays a role in transendothelial migration of neutrophils. This gene lies in close proximity to, and in same transcriptional orientation as two other vanin genes on chromosome 6q23-q24. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, May 2011].", "evidence": [ { "database": "RefSeq", "id": "NP_001229279", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001229279" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "O95498", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O95498" } ], "glycoeffect": [], "start_pos": 109, "end_pos": 109, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "L", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "6", "chr_pos": "132757434", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P109", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ] }, { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs777948720", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777948720" }, { "id": "rs777948720", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777948720" }, { "id": "rs777948720", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs777948720" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 131, "end_pos": 131, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DNS->NNS).", "chr_id": "6", "chr_pos": "132755989", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D131", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs770198693", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770198693" }, { "id": "rs770198693", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770198693" }, { "id": "rs770198693", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs770198693" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 134, "end_pos": 134, "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": "132755979", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I134", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O95498", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O95498" } ], "glycoeffect": [], "start_pos": 150, "end_pos": 150, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "E", "comment": "Somatic mutation passed 1 out of 6 filters: DB annot. (1).", "chr_id": "6", "chr_pos": "132755930", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D150", "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": 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"MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL 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"name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, 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": "O95498", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95498" } ], "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": "down", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O95498", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95498" } ], "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": "down", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "O95498", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95498" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "O95498", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95498" } ], "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 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"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": "up", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "O95498", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95498" } ], "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O95498", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95498" } ], "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": "O95498", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95498" } ], "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": "O95498", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95498" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95498" } ], "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ] }, { "significant": "No", "trend": "up", "name": "Esophageal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "O95498", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95498" } ], "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is 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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"id": "O95498", "url": "DISABLED", "database": "UniCarbKB", "categories": [ "Glycoproteomics" ] }, { "id": "B4DQB2", "url": "https://www.uniprot.org/uniprot/B4DQB2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "B4DQB2-1", "url": "https://www.uniprot.org/uniprot/B4DQB2-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PK31", "url": "https://www.uniprot.org/uniprot/E9PK31", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PK31-1", "url": "https://www.uniprot.org/uniprot/E9PK31-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PL76", "url": "https://www.uniprot.org/uniprot/E9PL76", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PL76-1", "url": "https://www.uniprot.org/uniprot/E9PL76-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PLK5", "url": "https://www.uniprot.org/uniprot/E9PLK5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PLK5-1", "url": "https://www.uniprot.org/uniprot/E9PLK5-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PQ75", "url": "https://www.uniprot.org/uniprot/E9PQ75", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PQ75-1", "url": "https://www.uniprot.org/uniprot/E9PQ75-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PRD9", "url": "https://www.uniprot.org/uniprot/E9PRD9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PRD9-1", "url": "https://www.uniprot.org/uniprot/E9PRD9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "J3KQ55", "url": "https://www.uniprot.org/uniprot/J3KQ55", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "J3KQ55-1", "url": "https://www.uniprot.org/uniprot/J3KQ55-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "J3KQQ7", "url": "https://www.uniprot.org/uniprot/J3KQQ7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "J3KQQ7-1", "url": "https://www.uniprot.org/uniprot/J3KQQ7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "J3QT03", "url": "https://www.uniprot.org/uniprot/J3QT03", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "J3QT03-1", "url": "https://www.uniprot.org/uniprot/J3QT03-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O95498", "url": "https://www.uniprot.org/uniprot/O95498", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O95498-1", "url": "https://www.uniprot.org/uniprot/O95498-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O95498-2", "url": "https://www.uniprot.org/uniprot/O95498-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O95498-3", "url": "https://www.uniprot.org/uniprot/O95498-3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O95498-4", "url": "https://www.uniprot.org/uniprot/O95498-4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O95498-5", "url": "https://www.uniprot.org/uniprot/O95498-5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O95498-6", "url": "https://www.uniprot.org/uniprot/O95498-6", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MVTSSFPISVAVFALITLQVGTQDSFIAAVYEHAVILPNKTETPVSQEDALNLMNENIDILETAIKQAAEQGARIIVTPEDALYGWKFTRETVFPYLEDIPDPQVNWIPCQDPHRFGHTPVQARLSCLAKDNSIYVLANLGDKKPCNSRDSTCPPNGYFQYNTNVVYNTEGKLVARYHKYHLYSEPQFNVPEKPELVTFNTAFGRFGIFTCFDIFFYDPGVTLVKDFHVDTILFPTAWMNVLPLLTAIEFHSAWAMGMGVNLLVANTHHVSLNMTGSGIYAPNGPKVYHYDMKTELGKLLLSEVDSHPLSSLAYPTAVNWNAYATTIKPFPVQKNTFRGFISRDGFNFTELFENAGNLTVCQKELCCHLSYRMLQKEENEVYVLGAFTGLHGRRRREYWQVCTLLKCKTTNLTTCGRPVETASTRFEMFSLSGTFGTEYVFPEVLLTEIHLSPGKFEVLKDGRLVNKNGSSGPILTVSLFGRWYTKDSLYSSCGTSNSAITYLLIFILLMIIALQNIVML", "length": 520, "header": "sp|O95498-1|VNN2_HUMAN Isoform 1 of Pantetheine hydrolase VNN2 OS=Homo sapiens OX=9606 GN=VNN2 PE=1 SV=3 CANONICAL=O95498-1" }, "isoforms": [ { "isoform_ac": "B4DQB2-1", "url": "", "sequence": { "sequence": "MVTSSFPISVAVFALITLQVGTQDSFIAAVYEHAVILPNKTETPVSQEDALNLMNENIDILETAIKQAAEQGARIIVTPEDALYGWKFTRETVFPYLEDIPDPQVNWIPCQDPHRFGHTPVQARLSCLAKDNSIYVLANLGDKKPCNSRDSTCPPNGYFQYNTNVVYNTEGKLVARYHKVGKSH", "length": 184, "header": "tr|B4DQB2-1|VNN2_HUMAN Computationally mapped isoform of Pantetheine hydrolase VNN2 OS=Homo sapiens OX=9606 GN=VNN2 PE=1 SV=1 CANONICAL=O95498-1" }, "locus": { "chromosome": "6", "start_pos": 132757883, "end_pos": 132753477, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000533835.5", "url": "https://www.ensembl.org/id/ENST00000533835.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000432516.1", "url": "https://www.ensembl.org/id/ENSP00000432516.1" } ] } }, { "isoform_ac": "E9PK31-1", "url": "", "sequence": { "sequence": "MVTSSFPISVAVFALITLQVGTQDSFIAAVYEHAVILPNKTETPVSQEDALNLMNENIDILETAIKQAAEQGARIIVTPEDALYGWKFTRETVFPYLEDIP", "length": 101, "header": "tr|E9PK31-1|E9PK31_HUMAN Computationally mapped isoform of Vanin 2 OS=Homo sapiens OX=9606 GN=VNN2 PE=1 SV=1 CANONICAL=O95498-1" }, "locus": { "chromosome": "6", "start_pos": 132757883, "end_pos": 132757457, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000532012.1", "url": "https://www.ensembl.org/id/ENST00000532012.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000431680.1", "url": "https://www.ensembl.org/id/ENSP00000431680.1" } ] } }, { "isoform_ac": "E9PL76-1", "url": "", "sequence": { "sequence": "MVTSSFPISVAVFALITLQVGTQDSFIAAVYEHAVILPNKTETPVSQEDALNLMNENIDILETAIKQAAEQGARIIVTPEDALYGWKFTRETVFPYLEDIPDPQVNWIPCQDPHRFGHTPVQARLSCLAKDNSIYVLANLGDKKPCNSRDSTCPPNGYFQYNTNVV", "length": 166, "header": "tr|E9PL76-1|VNN2_HUMAN Computationally mapped isoform of Pantetheine hydrolase VNN2 OS=Homo sapiens OX=9606 GN=VNN2 PE=1 SV=1 CANONICAL=O95498-1" }, "locus": { "chromosome": "6", "start_pos": 132757883, "end_pos": 132755882, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000524919.5", "url": "https://www.ensembl.org/id/ENST00000524919.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000431451.1", "url": "https://www.ensembl.org/id/ENSP00000431451.1" } ] } }, { "isoform_ac": "E9PLK5-1", "url": "", "sequence": { "sequence": "MVTSSFPISVAVFALITLQVGTQDSFIAAVYEHAVILPNKTETPVSQEDALNLMNENIDILETAIKQAAEQGARIIVTPEDALYGWKFTRETVFPYLEDIPDPQVNWIPCQDPHRSAHC", "length": 119, "header": "tr|E9PLK5-1|VNN2_HUMAN Computationally mapped isoform of Pantetheine hydrolase VNN2 OS=Homo sapiens OX=9606 GN=VNN2 PE=1 SV=1 CANONICAL=O95498-1" }, "locus": { "chromosome": "6", "start_pos": 132757883, "end_pos": 132749853, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000528801.5", "url": "https://www.ensembl.org/id/ENST00000528801.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000433285.1", "url": "https://www.ensembl.org/id/ENSP00000433285.1" } ] } }, { "isoform_ac": "E9PQ75-1", "url": "", "sequence": { "sequence": "MNENIDILETAIKQAAEQGARIIVTPEDALYGWKFTRETVFPYLEDIPDPQVNWIPCQDPHRFGHTPVQARLSCLAKDNSIYVLANLGDKKPCNSRDSTCPPNGYFQYNTNVVYNTEGKLVARYHKVGKSH", "length": 131, "header": "tr|E9PQ75-1|VNN2_HUMAN Computationally mapped isoform of Pantetheine hydrolase VNN2 OS=Homo sapiens OX=9606 GN=VNN2 PE=1 SV=1 CANONICAL=O95498-1" }, "locus": { "chromosome": "6", "start_pos": 132757724, "end_pos": 132753477, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000531279.5", "url": "https://www.ensembl.org/id/ENST00000531279.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000432582.1", "url": "https://www.ensembl.org/id/ENSP00000432582.1" } ] } }, { "isoform_ac": "E9PRD9-1", "url": "", "sequence": { "sequence": "MNENIDILETAIKQAAEQGARIIVTPEDALYGWKFTRETVFPYLEDIPDPQVNWIPCQDPHRFGHTPVQARLSCLAKDNSIYVLANLGDKKPCNSRDSTCPP", "length": 102, "header": "tr|E9PRD9-1|VNN2_HUMAN Computationally mapped isoform of Pantetheine hydrolase VNN2 OS=Homo sapiens OX=9606 GN=VNN2 PE=1 SV=1 CANONICAL=O95498-1" }, "locus": { "chromosome": "6", "start_pos": 132757724, "end_pos": 132755915, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000530536.5", "url": "https://www.ensembl.org/id/ENST00000530536.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000434210.1", "url": "https://www.ensembl.org/id/ENSP00000434210.1" } ] } }, { "isoform_ac": "J3KQ55-1", "url": "", "sequence": { "sequence": "MVTSSFPISVAVFALITLQVGTQDSFIAAVYEHAVILPNKTETPVSQEDALNLMNENIDILETAIKQAAEQGARIIVTPEDALYGWKFTRETVFPYLEDIPDPQVNWIPCQDPHRFGHTPVQARLSCLAKDNSIYVLANLGDKKPCNSRDSTCPPNGYFQYNTNVVYNTEGKLVARYHKYHLYSEPQFNVPEKPELVTFNTAFGRKWYLCTKWSQSVSL", "length": 219, "header": "tr|J3KQ55-1|VNN2_HUMAN Computationally mapped isoform of Pantetheine hydrolase VNN2 OS=Homo sapiens OX=9606 GN=VNN2 PE=1 SV=1 CANONICAL=O95498-1" }, "locus": { "chromosome": "6", "start_pos": 132757883, "end_pos": 132751476, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000418593.6", "url": "https://www.ensembl.org/id/ENST00000418593.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000387572.2", "url": "https://www.ensembl.org/id/ENSP00000387572.2" } ] } }, { "isoform_ac": "J3KQQ7-1", "url": "", "sequence": { "sequence": "MVTSSFPISVAVFALITLQVGTQDSFIAAVYEHAVILPNKTETPVSQEDALNLMNENIDILETAIKQAAEQGARIIVTPEDALYGWKFTRETVFPYLEDIPDPQVNWIPCQDPHRFGHTPVQARLSCLAKDNSIYVLANLGDKKPCNSRDSTCPPNGYFQYNTNVVYNTEGKLVARYHKYHLYSEPQFNVPEKPELVTFNTAFGSLDERFAPFDSY", "length": 216, "header": "tr|J3KQQ7-1|VNN2_HUMAN Computationally mapped isoform of Pantetheine hydrolase VNN2 OS=Homo sapiens OX=9606 GN=VNN2 PE=1 SV=1 CANONICAL=O95498-1" }, "locus": { "chromosome": "6", "start_pos": 132757883, "end_pos": 132752544, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000422400.6", "url": "https://www.ensembl.org/id/ENST00000422400.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000406536.2", "url": "https://www.ensembl.org/id/ENSP00000406536.2" } ] } }, { "isoform_ac": "J3QT03-1", "url": "", "sequence": { "sequence": "MVTSSFPISVAVFALITLQVGTQDSFIAAVYEHAVILPNKTETPVSQEDALNLMNENIDILETAIKQAAEQGARIIVTPEDALYGWKFTRETVFPYLEDIPDPQVNWIPCQDPHRFGHTPVQARLSCLAKDNSIYVLANLGDKKPCNSRDSTCPPNGYFQYNTNVVYNTEGKLVARYHKYHLYSEPQFNVPEKPELVTFNTAFGRFGIFTCFDIFFYDPGVTLVKDFHVDTILFPTAWMNVLPLLTAIEFHSAWAMGMGVNLLVANTHHVSLNMTVVFMHQMVPKCIIMT", "length": 290, "header": "tr|J3QT03-1|VNN2_HUMAN Computationally mapped isoform of Pantetheine hydrolase VNN2 OS=Homo sapiens OX=9606 GN=VNN2 PE=1 SV=1 CANONICAL=O95498-1" }, "locus": { "chromosome": "6", "start_pos": 132757883, "end_pos": 132751471, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000392389.6", "url": "https://www.ensembl.org/id/ENST00000392389.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000376190.2", "url": "https://www.ensembl.org/id/ENSP00000376190.2" } ] } }, { "isoform_ac": "O95498-1", "url": "", "sequence": { "sequence": "MVTSSFPISVAVFALITLQVGTQDSFIAAVYEHAVILPNKTETPVSQEDALNLMNENIDILETAIKQAAEQGARIIVTPEDALYGWKFTRETVFPYLEDIPDPQVNWIPCQDPHRFGHTPVQARLSCLAKDNSIYVLANLGDKKPCNSRDSTCPPNGYFQYNTNVVYNTEGKLVARYHKYHLYSEPQFNVPEKPELVTFNTAFGRFGIFTCFDIFFYDPGVTLVKDFHVDTILFPTAWMNVLPLLTAIEFHSAWAMGMGVNLLVANTHHVSLNMTGSGIYAPNGPKVYHYDMKTELGKLLLSEVDSHPLSSLAYPTAVNWNAYATTIKPFPVQKNTFRGFISRDGFNFTELFENAGNLTVCQKELCCHLSYRMLQKEENEVYVLGAFTGLHGRRRREYWQVCTLLKCKTTNLTTCGRPVETASTRFEMFSLSGTFGTEYVFPEVLLTEIHLSPGKFEVLKDGRLVNKNGSSGPILTVSLFGRWYTKDSLYSSCGTSNSAITYLLIFILLMIIALQNIVML", "length": 520, "header": "sp|O95498-1|VNN2_HUMAN Isoform 1 of Pantetheine hydrolase VNN2 OS=Homo sapiens OX=9606 GN=VNN2 PE=1 SV=3 CANONICAL=O95498-1" }, "locus": { "chromosome": "6", "start_pos": 132757883, "end_pos": 132744303, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000326499.11", "url": "https://www.ensembl.org/id/ENST00000326499.11" }, { "database": "Ensembl Peptide", "id": "ENSP00000322276.6", "url": "https://www.ensembl.org/id/ENSP00000322276.6" } ] } }, { "isoform_ac": "O95498-2", "url": "", "sequence": { "sequence": "MVTSSFPISVAVFALITLQVGTQDSFIAAVYEHAVILPNKTETPVSQEDALNLMNENIDILETAIKQAAEQGARIIVTPEDALYGWKFTRETVFPYLEDIPDPQVNWIPCQDPHRFGHTPVQARLSCLAKDNSIYVLANLGDKKPCNSRDSTCPPNGYFQYNTNVVYNTEGKLVARYHKVCTLLKCKTTNLTTCGRPVETASTRFEMFSLSGTFGTEYVFPEVLLTEIHLSPGKFEVLKDGRLVNKNGSSGPILTVSLFGRWYTKDSLYSSCGTSNSAITYLLIFILLMIIALQNIVML", "length": 299, "header": "sp|O95498-2|VNN2_HUMAN Isoform 2 of Pantetheine hydrolase VNN2 OS=Homo sapiens OX=9606 GN=VNN2 PE=1 SV=3 CANONICAL=O95498-1" }, "locus": { "chromosome": "6", "start_pos": 132757883, "end_pos": 132744303, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000525289.5", "url": "https://www.ensembl.org/id/ENST00000525289.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000436935.1", "url": "https://www.ensembl.org/id/ENSP00000436935.1" } ] } }, { "isoform_ac": "O95498-3", "url": "", "sequence": { "sequence": "MVTSSFPISVAVFALITLQVGTQDSFIAAVYEHAVILPNKTETPVSQEDALNLMNENIDILETAIKQAAEQGARIIVTPEDALYGWKFTRETVFPYLEDIPDPQVNWIPCQDPHRFGHTPVQARLSCLAKDNSIYVLANLGDKKPCNSRDSTCPPNGYFQYNTNVVYNTEGKLVARYHKETLQSVKRSFAVI", "length": 192, "header": "sp|O95498-3|VNN2_HUMAN Isoform 3 of Pantetheine hydrolase VNN2 OS=Homo sapiens OX=9606 GN=VNN2 PE=1 SV=3 CANONICAL=O95498-1" }, "locus": { "chromosome": "6", "start_pos": 132757883, "end_pos": 132751240, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000532053.5", "url": "https://www.ensembl.org/id/ENST00000532053.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000434077.1", "url": "https://www.ensembl.org/id/ENSP00000434077.1" } ] } }, { "isoform_ac": "O95498-4", "url": "", "sequence": { "sequence": "MVTSSFPISVAVFALITLQVGTQDSFIAAVYEHAVILPNKTETPVSQEDALNLMNENIDILETAIKQAAEQGARIIVTPEDALYGWKFTRETVFPYLEDIPDPQVNWIPCQDPHRFGHTPVQARLSCLAKDNSIYVLANLGDKKPCNSRDSTCPPNGYFQYNTNVVYNTEGKLVARYHKEVVFMHQMVPKCIIMT", "length": 195, "header": "sp|O95498-4|VNN2_HUMAN Isoform 4 of Pantetheine hydrolase VNN2 OS=Homo sapiens OX=9606 GN=VNN2 PE=1 SV=3 CANONICAL=O95498-1" }, "locus": { "chromosome": "6", "start_pos": 132757883, "end_pos": 132751471, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000525674.5", "url": "https://www.ensembl.org/id/ENST00000525674.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000436863.1", "url": "https://www.ensembl.org/id/ENSP00000436863.1" } ] } }, { "isoform_ac": "O95498-5", "url": "", "sequence": { "sequence": "MVTSSFPISVAVFALITLQVGTQDSFIAAVYEHAVILPNKTETPVSQEDALNLMNENIDILETAIKQAAEQGARIIVTPEDALYGWKFTRETVFPYLEDIPDPQVNWIPCQDPHRSAQC", "length": 119, "header": "sp|O95498-5|VNN2_HUMAN Isoform 5 of Pantetheine hydrolase VNN2 OS=Homo sapiens OX=9606 GN=VNN2 PE=1 SV=3 CANONICAL=O95498-1" }, "locus": {} }, { "isoform_ac": "O95498-6", "url": "", "sequence": { "sequence": "MNENIDILETAIKQAAEQGARIIVTPEDALYGWKFTRETVFPYLEDIPDPQVNWIPCQDPHRFGHTPVQARLSCLAKDNSIYVLANLGDKKPCNSRDSTCPPNGYFQYNTNVVYNTEGKLVARYHKYHLYSEPQFNVPEKPELVTFNTAFGRFGIFTCFDIFFYDPGVTLVKDFHVDTILFPTAWMNVLPLLTAIEFHSAWAMGMGVNLLVANTHHVSLNMTGSGIYAPNGPKVYHYDMKTELGKLLLSEVDSHPLSSLAYPTAVNWNAYATTIKPFPVQKNTFRGFISRDGFNFTELFENAGNLTVCQKELCCHLSYRMLQKEENEVYVLGAFTGLHGRRRREYWQVCTLLKCKTTNLTTCGRPVETASTRFEMFSLSGTFGTEYVFPEVLLTEIHLSPGKFEVLKDGRLVNKNGSSGPILTVSLFGRWYTKDSLYSSCGTSNSAITYLLIFILLMIIALQNIVML", "length": 467, "header": "sp|O95498-6|VNN2_HUMAN Isoform 6 of Pantetheine hydrolase VNN2 OS=Homo sapiens OX=9606 GN=VNN2 PE=1 SV=3 CANONICAL=O95498-1" }, "locus": { "chromosome": "6", "start_pos": 132757724, "end_pos": 132744303, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000525270.5", "url": "https://www.ensembl.org/id/ENST00000525270.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000436822.1", "url": "https://www.ensembl.org/id/ENSP00000436822.1" } ] } } ], "glycosylation": [ { 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glycosylphosphatidyl inositol-anchored protein on human leukocytes: a possible role for regulation of neutrophil adherence and migration.", "journal": "J. Immunol.", "date": "1999", "authors": "Suzuki K, Watanabe T, Sakurai S, Ohtake K, Kinoshita T, Araki A, Fujita T, Takei H, Takeda Y, Sato Y, Yamashita T, Araki Y, Sendo F", "evidence": [ { "database": "UniProtKB", "id": "O95498", "url": "https://www.uniprot.org/uniprot/O95498" } ], "reference": [ { "type": "PubMed", "id": "10201959", "url": "https://glygen.org/publication/PubMed/10201959" } ] }, { "title": "Human placental Na+-dependent multivitamin transporter. 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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human homologue Graves' disease protein are required for accumulation of coenzyme A in the matrix.", "journal": "Molecular and cellular biology", "date": "2001", "authors": "Prohl C, Pelzer W, Diekert K, Kmita H, Bedekovics T, Kispal G, Lill R", "evidence": [ { "database": "Reactome", "id": "R-HSA-199220", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-199220" } ], "reference": [ { "type": "PubMed", "id": "11158296", "url": "https://glygen.org/publication/PubMed/11158296" } ] }, { "title": "Vanin genes are clustered (human 6q22-24 and mouse 10A2B1) and encode isoforms of pantetheinase ectoenzymes.", "journal": "Immunogenetics", "date": "2001", "authors": "Martin F, Malergue F, Pitari G, Philippe J M, Philips S, Chabret C, Granjeaud S, Mattei M G, Mungall A J, Naquet P, Galland F", "evidence": [ { "database": "UniProtKB", "id": "O95498", "url": "https://www.uniprot.org/uniprot/O95498" } ], "reference": [ { "type": "PubMed", "id": "11491533", "url": "https://glygen.org/publication/PubMed/11491533" } ] }, { "title": "Physiological and pathophysiological functions of the ecto-nucleotide pyrophosphatase/phosphodiesterase family.", "journal": "Biochimica et biophysica acta", "date": "2003", "authors": "Goding JW, Grobben B, Slegers H", "evidence": [ { "database": "Reactome", "id": "R-HSA-199220", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-199220" } ], "reference": [ { "type": "PubMed", "id": "12757929", "url": "https://glygen.org/publication/PubMed/12757929" } ] }, { "title": "Cloning, expression, and characterization of a human 4'-phosphopantetheinyl transferase with broad substrate specificity.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Joshi AK, Zhang L, Rangan VS, Smith S", "evidence": [ { "database": "Reactome", "id": "R-HSA-199220", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-199220" } ], "reference": [ { "type": "PubMed", "id": "12815048", "url": "https://glygen.org/publication/PubMed/12815048" } ] }, { "title": "Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry.", "journal": "Journal of proteome research", "date": "2005", "authors": "Liu T, Qian WJ, Gritsenko MA, Camp DG 2nd, Monroe ME, Moore RJ, Smith RD", "evidence": [ { "database": "UniProtKB", "id": "O95498", "url": "https://www.uniprot.org/uniprot/O95498#ptm_processing" }, { "database": "UniProtKB", "id": "O95498", "url": "https://www.uniprot.org/uniprot/O95498" } ], "reference": [ { "type": "PubMed", "id": "16335952", "url": "https://glygen.org/publication/PubMed/16335952" } ] }, { "title": "Activation of human mitochondrial pantothenate kinase 2 by palmitoylcarnitine.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2007", "authors": "Leonardi R, Rock CO, Jackowski S, Zhang YM", "evidence": [ { "database": "Reactome", "id": "R-HSA-199220", "url": 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Invest. Dermatol.", "date": "2009", "authors": "Jansen PA, Kamsteeg M, Rodijk-Olthuis D, van Vlijmen-Willems IM, de Jongh GJ, Bergers M, Tjabringa GS, Zeeuwen PL, Schalkwijk J", "evidence": [ { "database": "UniProtKB", "id": "O95498", "url": "https://www.uniprot.org/uniprot/O95498" } ], "reference": [ { "type": "PubMed", "id": "19322213", "url": "https://glygen.org/publication/PubMed/19322213" } ] }, { "title": "A novel member of solute carrier family 25 (SLC25A42) is a transporter of coenzyme A and adenosine 3',5'-diphosphate in human mitochondria.", "journal": "The Journal of biological chemistry", "date": "2009", "authors": "Fiermonte G, Paradies E, Todisco S, Marobbio CM, Palmieri F", "evidence": [ { "database": "Reactome", "id": "R-HSA-199220", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-199220" } ], "reference": [ { "type": "PubMed", "id": "19429682", "url": "https://glygen.org/publication/PubMed/19429682" } ] }, { "title": "Association of PDZ-containing protein PDZD11 with the human sodium-dependent multivitamin transporter.", "journal": "American journal of physiology. Gastrointestinal and liver physiology", "date": "2011", "authors": "Nabokina SM, Subramanian VS, Said HM", "evidence": [ { "database": "Reactome", "id": "R-HSA-199220", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-199220" } ], "reference": [ { "type": "PubMed", "id": "21183659", "url": "https://glygen.org/publication/PubMed/21183659" } ] }, { "title": "N-linked glycosylation enrichment for in-depth cell surface proteomics of diffuse large B-cell lymphoma subtypes.", "journal": "Molecular & cellular proteomics : MCP", "date": "2014", "authors": "Deeb SJ, Cox J, Schmidt-Supprian M, Mann M", "evidence": [ { "database": "GlyGen", "id": "GLY_000143", "url": "https://data.glygen.org/GLY_000143" } ], "reference": [ { "type": "PubMed", "id": "24190977", "url": "https://glygen.org/publication/PubMed/24190977" } ] }, { "title": "A glycan-phosphatidylinositol-specific phospholipase D in human serum.", "journal": "Science (New York, N.Y.)", "date": "1987", "authors": "Davitz MA, Hereld 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Buldini B, Scarparo P, Basso G, Maglia O, Gaipa G, Skoblyn TL, Te Kronnie G, Vendramini E, Panzer-Grumayer R, Barz MJ, Marovca B, Hauri-Hohl M, Niggli F, Eckert C, Schrappe M, Stanulla M, Zimmermann M, Wollscheid B, Yaspo ML, Bourquin JP", "evidence": [ { "database": "RefSeq", "id": "NP_001229279", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001229279" } ], "reference": [ { "type": "PubMed", "id": "32853382", "url": "https://glygen.org/publication/PubMed/32853382" } ] }, { "title": "A phospholipase D specific for the phosphatidylinositol anchor of cell-surface proteins is abundant in plasma.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1988", "authors": "Low MG, Prasad AR", "evidence": [ { "database": "Reactome", "id": "R-HSA-163125", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-163125" } ], "reference": [ { "type": "PubMed", "id": "3422494", "url": "https://glygen.org/publication/PubMed/3422494" } ] }, { "title": "GPI-80 Augments NF-kappaB Activation in Tumor Cells.", "journal": "International journal of molecular sciences", "date": "2021", "authors": "Takeda Y, Kurota Y, Kato T, Ito H, Araki A, Nara H, Saitoh S, Tanaka N, Tsuchiya N, Asao H", "evidence": [ { "database": "RefSeq", "id": "NP_001229279", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001229279" } ], "reference": [ { "type": "PubMed", "id": "34769456", "url": "https://glygen.org/publication/PubMed/34769456" } ] }, { "title": "Inherited Disorders of Coenzyme A Biosynthesis: Models, Mechanisms, and Treatments.", "journal": "International journal of molecular sciences", "date": "2023-03-21", "authors": "Cavestro Chiara, Diodato Daria, Tiranti Valeria, Di Meo Ivano", "evidence": [ { "database": "Reactome", "id": "R-HSA-199220", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-199220" } ], "reference": [ { "type": "PubMed", "id": "36983025", "url": "https://glygen.org/publication/PubMed/36983025" } ] }, { "title": "Vanin-1, a novel GPI-linked perivascular molecule involved in thymus homing.", "journal": "Immunity", "date": "1996", "authors": "Aurrand-Lions M, Galland F, Bazin H, Zakharyev VM, Imhof BA, Naquet P", "evidence": [ { "database": "Reactome", "id": "R-HSA-199220", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-199220" } ], "reference": [ { "type": "PubMed", "id": "8934567", "url": "https://glygen.org/publication/PubMed/8934567" } ] }, { "title": "Cloning and functional expression of a cDNA encoding a mammalian sodium-dependent vitamin transporter mediating the uptake of pantothenate, biotin, and lipoate.", "journal": "The Journal of biological chemistry", "date": "1998", "authors": "Prasad PD, Wang H, Kekuda R, Fujita T, Fei YJ, Devoe LD, Leibach FH, Ganapathy V", "evidence": [ { "database": "Reactome", "id": "R-HSA-199220", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-199220" } ], "reference": [ { "type": "PubMed", "id": "9516450", "url": "https://glygen.org/publication/PubMed/9516450" } ] }, { "title": "Two human genes related to murine vanin-1 are located on the long arm of human chromosome 6.", "journal": "Genomics", "date": "1998", "authors": "Galland F, Malergue F, Bazin H, Mattei M G, Aurrand-Lions M, Theillet C, Naquet P", "evidence": [ { "database": "UniProtKB", "id": "O95498", "url": "https://www.uniprot.org/uniprot/O95498" } ], "reference": [ { "type": "PubMed", "id": "9790769", "url": "https://glygen.org/publication/PubMed/9790769" } ] } ], "pathway": [ { "id": "hsa:8875", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:8875", "resource": "KEGG Pathway" }, { "id": "R-HSA-163125", "name": "Post-translational modification: synthesis of GPI-anchored proteins", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-163125", "resource": "Reactome", "description": "Post-translational modification: synthesis of GPI-anchored proteins" }, { "id": "R-HSA-199220", "name": "Vitamin B5 (pantothenate) metabolism", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-199220", "resource": "Reactome", "description": "Vitamin B5 (pantothenate) metabolism" } ], "orthologs": [], "go_annotation": { "categories": [ { "name": "Biological Process", "total": 2, "go_terms": [ { "name": "nitrogen compound metabolic process", "id": "GO:0006807", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006807", "evidence": [ { "database": "UniProtKB", "id": "O95498", "url": "https://www.uniprot.org/uniprot/O95498" } ], "pmid": "" }, { "name": "pantothenate metabolic process", "id": "GO:0015939", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015939", "evidence": [ { "database": "UniProtKB", "id": "O95498", "url": "https://www.uniprot.org/uniprot/O95498" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 4, "go_terms": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "O95498", "url": "https://www.uniprot.org/uniprot/O95498" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "O95498", "url": "https://www.uniprot.org/uniprot/O95498" } ], "pmid": "" }, { "name": "side of membrane", "id": "GO:0098552", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098552", "evidence": [ { "database": "UniProtKB", "id": "O95498", "url": "https://www.uniprot.org/uniprot/O95498" } ], "pmid": "" }, { "name": "cellular anatomical entity", "id": "GO:0110165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0110165", "evidence": [ { "database": "UniProtKB", "id": "O95498", "url": "https://www.uniprot.org/uniprot/O95498" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 2, "go_terms": [ { "name": "pantetheine hydrolase activity", "id": "GO:0017159", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017159", "evidence": [ { "database": "UniProtKB", "id": "O95498", "url": "https://www.uniprot.org/uniprot/O95498" } ], "pmid": "" }, { "name": "hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides", "id": "GO:0016811", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016811", "evidence": [ { "database": "UniProtKB", "id": "O95498", "url": "https://www.uniprot.org/uniprot/O95498" } ], "pmid": "" } ] } ] }, "pro_annotation": [ { "name": "vascular non-inflammatory molecule 2 N-glycosylated 1 (human)", "definition": "A vascular non-inflammatory molecule 2 (human) that has been N-glycosylated at the residue equivalent to Asn-411 of the amino acid sequence represented by UniProtKB:O95498-1, in which the glycan composition is represented by GlyTouCan:G00912UN. Example: UniProtKB:O95498-1, Asn-411, MOD:00160~GNO:G00912UN. [PRO:DNx, PMID:29671580]", "evidence": [ { "id": "PR:000050923", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000050923" } ] } ], "site_annotation": [ { "start_pos": 273, "end_pos": 275, "annotation": "n_glycosylation_sequon" }, { "start_pos": 347, "end_pos": 349, "annotation": "n_glycosylation_sequon" }, { "start_pos": 357, "end_pos": 359, "annotation": "n_glycosylation_sequon" }, { "start_pos": 39, "end_pos": 41, "annotation": "n_glycosylation_sequon" }, { "start_pos": 411, "end_pos": 413, "annotation": "n_glycosylation_sequon" }, { "start_pos": 468, "end_pos": 470, "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-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": "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": "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": "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": "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": "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": "isoformset.uniprotkb", "label": "Isoforms" } ], "sequence_features": { "n_linked_sites": [ 39, 273, 347, 357, 411, 466, 468 ], "o_linked_sites": [], "snv_sites": [ 39, 41, 109, 131, 134, 150, 164, 202, 273, 275, 321, 349, 359, 413, 448, 468, 470 ], "glycation_sites": [], "phosphorylation_sites": [], "sequon_annotation_sites": [ { "start_pos": 273, "end_pos": 275 }, { "start_pos": 347, "end_pos": 349 }, { "start_pos": 357, "end_pos": 359 }, { "start_pos": 39, "end_pos": 41 }, { "start_pos": 411, "end_pos": 413 }, { "start_pos": 468, "end_pos": 470 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 9 }, { "field": "total_sites", "count": 7 }, { "field": "n_linked_glycans", "count": 2 }, { "field": "n_linked_glycan_sites", "count": 8 }, { "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": 5 }, { "field": "total_sites", "count": 5 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 5 }, { "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": 2 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 2 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 2 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 2 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 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": 20 }, { "field": "total_sites", "count": 17 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 5 }, { "field": "total_sites", "count": 5 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 15 }, { "field": "total_sites", "count": 13 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 30 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }