{ "uniprot_canonical_ac": "P08185-1", "uniprot_ac": "P08185", "uniprot_id": "CBG_HUMAN", "mass": { "chemical_mass": 45141.0, "monoisotopic_mass": 45141.0 }, "refseq": { "ac": "NP_001747", "name": "corticosteroid-binding globulin precursor", "summary": "This gene encodes an alpha-globulin protein with corticosteroid-binding properties. This is the major transport protein for glucorticoids and progestins in the blood of most vertebrates. The gene localizes to a chromosomal region containing several closely related serine protease inhibitors which may have evolved by duplication events. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001747" }, "gene_names": [ { "name": "SERPINA6", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P08185", "id": "P08185" }, { "name": "CBG", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001747", "id": "NP_001747" }, { "name": "CBG", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P08185", "id": "P08185" }, { "name": "SERPINA6", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001747", "id": "NP_001747" }, { "name": "hCG_22332", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P08185", "id": "P08185" } ], "protein_names": [ { "name": "Corticosteroid-binding globulin", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P08185" }, { "name": "CBG", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P08185" }, { "name": "Serpin A6", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P08185" }, { "name": "Transcortin", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P08185" }, { "name": "corticosteroid-binding globulin precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001747", "id": "NP_001747" }, { "name": "serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6; transcortin; corticosteroid-binding globulin; serpin A6; serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001747", "id": "NP_001747" } ], "function": [ { "annotation": "Here, we show that these issues can be addressed concurrently, using the serpin human a1-antichymotrypsin (ACT) as a model. We have introduced up to 15 amino acid substitutions into ACT, converting it into a surrogate corticosteroid-binding globulin (CBG), thereby creating a new binding globulin (NewBG).", "evidence": [ { "database": "RefSeq", "id": "NP_001747", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001747" }, { "database": "PubMed", "id": "31103428", "url": "https://glygen.org/publication/PubMed/31103428" } ] }, { "annotation": "Major transport protein for glucocorticoids and progestins in the blood of almost all vertebrate species.", "evidence": [ { "database": "UniProtKB", "id": "P08185", "url": "https://www.uniprot.org/uniprot/P08185#function" }, { "database": "PubMed", "id": "18513745", "url": "https://glygen.org/publication/PubMed/18513745" } ] }, { "annotation": "Plasma cortisol-linked gene networks in hepatic and adipose tissues implicate corticosteroid-binding globulin in modulating tissue glucocorticoid action and cardiovascular risk. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001747", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001747" }, { "database": "PubMed", "id": "37745713", "url": "https://glygen.org/publication/PubMed/37745713" } ] }, { "annotation": "Pyrexia and acidosis act independently of neutrophil elastase reactive center loop cleavage to effect cortisol release from corticosteroid-binding globulin.", "evidence": [ { "database": "RefSeq", "id": "NP_001747", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001747" }, { "database": "PubMed", "id": "33085168", "url": "https://glygen.org/publication/PubMed/33085168" } ] }, { "annotation": "Stress-related genetic components in attention-deficit/hyperactivity disorder (ADHD): Effects of the SERPINA6 and SERPINA1 genetic markers in a family-based brazilian sample.", "evidence": [ { "database": "RefSeq", "id": "NP_001747", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001747" }, { "database": "PubMed", "id": "35217314", "url": "https://glygen.org/publication/PubMed/35217314" } ] }, { "annotation": "This gene encodes an alpha-globulin protein with corticosteroid-binding properties. This is the major transport protein for glucorticoids and progestins in the blood of most vertebrates. The gene localizes to a chromosomal region containing several closely related serine protease inhibitors which may have evolved by duplication events. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_001747", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001747" } ] }, { "annotation": "Variation in the SERPINA6/SERPINA1 locus alters morning plasma cortisol, hepatic corticosteroid binding globulin expression, gene expression in peripheral tissues, and risk of cardiovascular disease.", "evidence": [ { "database": "RefSeq", "id": "NP_001747", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001747" }, { "database": "PubMed", "id": "33469137", "url": "https://glygen.org/publication/PubMed/33469137" } ] } ], "disease": [ { "disease_id": "DOID:0090030", "recommended_name": { "id": "DOID:0090030", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0090030", "name": "corticosteroid-binding globulin deficiency", "description": "An adrenal gland disease characterized by decreased levels of serum corticosteroid-binding globulin and cortisol, and in some cases hypo- or hypertension, and muscle fatigue that has_material_basis_in heterozygous or homozygous mutation in the SERPINA6 gene on chromosome 14q32." }, "synonyms": [ { "id": "DOID:0090030", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0090030", "name": "CBG deficiency", "description": "" }, { "id": "DOID:0090030", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0090030", "name": "transcortin deficiency", "description": "" }, { "id": "MONDO:0012675", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012675", "name": "corticosteroid-binding globulin deficiency", "description": "Corticosteroid-binding globulin deficiency is a genetic disorder characterized by extreme tiredness (fatigue), particularly after physical exertion, and low blood pressure (hypotension). Corticosteroid-binding globulin (CBG) is a protein primarily produced in the liver that attaches to cortisol, a hormone with numerous functions, including maintaining blood sugar levels, protecting the body from stress, and suppressing inflammation.When cortisol is needed in the body, CBG delivers the cortisol where it is needed and releases it. Signs and symptoms of CBG deficiency vary. While some individuals may experience no symptoms, others are found to have a fatty liver and chronic pain. Some people with CBG deficiency also have chronic fatigue syndrome. CGB deficiency is caused by mutations in the SERPINA6 gene. The SERPINA6 gene is commonly also referred to as the CBG gene. Both autosomal dominant and autosomal recessive inheritance have been reported.While there is still no cure, treatment options will depend on the type and severity of symptoms present and may involve several specialists." }, { "id": "MONDO:0012675", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012675", "name": "CBG deficiency", "description": "" }, { "id": "MONDO:0012675", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012675", "name": "Transcortin deficiency", "description": "" }, { "id": "MONDO:0012675", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012675", "name": "corticosteroid-binding globulin deficiency", "description": "" }, { "id": "MONDO:0012675", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012675", "name": "transcortin deficiency", "description": "" }, { "id": "MONDO:0012675", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012675", "name": "Cbg deficiency", "description": "" }, { "id": "MONDO:0012675", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012675", "name": "corticosteroid-binding globulin, elevated", "description": "" }, { "id": "MIM:611489", "resource": "MIM", "url": "https://www.omim.org/entry/611489", "name": "Corticosteroid-binding globulin deficiency", "description": "Corticosteroid-binding globulin deficiency" } ], "evidence": [ { "id": "611489", "database": "MIM", "url": "https://www.omim.org/entry/611489" } ] } ], "snv": [ { "evidence": [ { "id": "rs754776547", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754776547" }, { "id": "rs754776547", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs754776547" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 176, "end_pos": 176, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NKT->SKT).", "chr_id": "14", "chr_pos": "94314122", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N176", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P08185", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P08185" }, { "id": "rs781027025", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781027025" }, { "id": "rs781027025", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781027025" }, { "id": "rs781027025", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781027025" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 224, "end_pos": 224, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (DET->NET).", "chr_id": "14", "chr_pos": "94309950", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D224", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs749209941", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749209941" }, { "id": "rs749209941", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749209941" }, { "id": "rs749209941", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs749209941" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 260, "end_pos": 260, "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NGT->KGT).", "chr_id": "14", "chr_pos": "94309840", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N260", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P08185", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P08185" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 303, "end_pos": 303, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "K", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (KVT->NVT).", "chr_id": "14", "chr_pos": "94306194", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "K303", "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": 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"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 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"https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P08185", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P08185" } ], "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", 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"description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "P08185", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P08185" } ], "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 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"https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "P08185", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P08185" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. 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"Glycoproteomics" ] }, { "id": "PR:000054430", "url": "https://proconsortium.org/app/entry/PR:000054430", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000054431", "url": "https://proconsortium.org/app/entry/PR:000054431", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000054432", "url": "https://proconsortium.org/app/entry/PR:000054432", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000054433", "url": "https://proconsortium.org/app/entry/PR:000054433", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000054434", "url": "https://proconsortium.org/app/entry/PR:000054434", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000054435", "url": "https://proconsortium.org/app/entry/PR:000054435", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000054436", "url": "https://proconsortium.org/app/entry/PR:000054436", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000054437", "url": "https://proconsortium.org/app/entry/PR:000054437", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000054438", "url": "https://proconsortium.org/app/entry/PR:000054438", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000054439", "url": "https://proconsortium.org/app/entry/PR:000054439", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR_P08185", "url": "http://purl.obolibrary.org/obo/PR_P08185", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-194002", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-194002", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-9757110", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9757110", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_001747", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001747", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "P08185", "url": "DISABLED", "database": "UniCarbKB", "categories": [ "Glycoproteomics" ] }, { "id": "G3V350", "url": "https://www.uniprot.org/uniprot/G3V350", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "G3V350-1", "url": "https://www.uniprot.org/uniprot/G3V350-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "G3V4V7", "url": "https://www.uniprot.org/uniprot/G3V4V7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "G3V4V7-1", "url": "https://www.uniprot.org/uniprot/G3V4V7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P08185", "url": "https://www.uniprot.org/uniprot/P08185", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P08185-1", "url": "https://www.uniprot.org/uniprot/P08185-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MPLLLYTCLLWLPTSGLWTVQAMDPNAAYVNMSNHHRGLASANVDFAFSLYKHLVALSPKKNIFISPVSISMALAMLSLGTCGHTRAQLLQGLGFNLTERSETEIHQGFQHLHQLFAKSDTSLEMTMGNALFLDGSLELLESFSADIKHYYESEVLAMNFQDWATASRQINSYVKNKTQGKIVDLFSGLDSPAILVLVNYIFFKGTWTQPFDLASTREENFYVDETTVVKVPMMLQSSTISYLHDSELPCQLVQMNYVGNGTVFFILPDKGKMNTVIAALSRDTINRWSAGLTSSQVDLYIPKVTISGVYDLGDVLEEMGIADLFTNQANFSRITQDAQLKSSKVVHKAVLQLNEEGVDTAGSTGVTLNLTSKPIILRFNQPFIIMIFDHFTWSSLFLARVMNPV", "length": 405, "header": "sp|P08185-1|CBG_HUMAN Isoform 1 of Corticosteroid-binding globulin OS=Homo sapiens OX=9606 GN=SERPINA6 PE=1 SV=1 CANONICAL=P08185-1" }, "isoforms": [ { "isoform_ac": "G3V350-1", "url": "", "sequence": { "sequence": "MPLLLYTCLLWLPTSGLWTVQAMDPNAAYVNMSNHHRGLASANVDFAFSLYKHLVALSPKKNIFISPVSISMALAMLSLGTCGHTRAQLLQGLGFNLTERSETEIHQGFQHLHQLFAKSDTSLEMTMGNALFLDGSLELLESFSADIKHYYESEVLAMNFQDWATASRQINSYVKNKTQGKIVDLFSGLDSPAILVLVNYIFFKGIPTHPHLKAHPLWPGITAAKIQGTLLGKVFDSVKHIHIWESPSSPQSCWAHGHSPLTWQAPGRRTSMWTRQLW", "length": 278, "header": "tr|G3V350-1|CBG_HUMAN Computationally mapped isoform of Corticosteroid-binding globulin OS=Homo sapiens OX=9606 GN=SERPINA6 PE=1 SV=1 CANONICAL=P08185-1" }, "locus": { "chromosome": "14", "start_pos": 94314648, "end_pos": 94309935, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000555056.1", "url": "https://www.ensembl.org/id/ENST00000555056.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000451045.1", "url": "https://www.ensembl.org/id/ENSP00000451045.1" } ] } }, { "isoform_ac": "G3V4V7-1", "url": "", "sequence": { "sequence": "MPLLLYTCLLWLPTSGLWTVQAMDPNAAYVNMSNHHRGLASANVDFAFSLYKHLVALSPKKNIFISPVSISMALAMLSLGTCGHTRAQLLQGLGFNLTERSETEIHQGFQHLHQLFAKSDTSLEMTMGNALFLDGS", "length": 136, "header": "tr|G3V4V7-1|G3V4V7_HUMAN Computationally mapped isoform of Corticosteroid-binding globulin OS=Homo sapiens OX=9606 GN=SERPINA6 PE=1 SV=1 CANONICAL=P08185-1" }, "locus": { "chromosome": "HSCHR14_7_CTG1", "start_pos": 1429210, "end_pos": 1428803, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000630843.1", "url": "https://www.ensembl.org/id/ENST00000630843.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000486954.1", "url": "https://www.ensembl.org/id/ENSP00000486954.1" } ] } }, { "isoform_ac": "P08185-1", "url": "", "sequence": { "sequence": "MPLLLYTCLLWLPTSGLWTVQAMDPNAAYVNMSNHHRGLASANVDFAFSLYKHLVALSPKKNIFISPVSISMALAMLSLGTCGHTRAQLLQGLGFNLTERSETEIHQGFQHLHQLFAKSDTSLEMTMGNALFLDGSLELLESFSADIKHYYESEVLAMNFQDWATASRQINSYVKNKTQGKIVDLFSGLDSPAILVLVNYIFFKGTWTQPFDLASTREENFYVDETTVVKVPMMLQSSTISYLHDSELPCQLVQMNYVGNGTVFFILPDKGKMNTVIAALSRDTINRWSAGLTSSQVDLYIPKVTISGVYDLGDVLEEMGIADLFTNQANFSRITQDAQLKSSKVVHKAVLQLNEEGVDTAGSTGVTLNLTSKPIILRFNQPFIIMIFDHFTWSSLFLARVMNPV", "length": 405, "header": "sp|P08185-1|CBG_HUMAN Isoform 1 of Corticosteroid-binding globulin OS=Homo sapiens OX=9606 GN=SERPINA6 PE=1 SV=1 CANONICAL=P08185-1" }, "locus": { "chromosome": "14", "start_pos": 94314648, "end_pos": 94304421, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000341584.4", "url": "https://www.ensembl.org/id/ENST00000341584.4" }, { "database": "Ensembl Peptide", "id": "ENSP00000342850.3", "url": "https://www.ensembl.org/id/ENSP00000342850.3" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 176, "start_aa": "Asn", "end_pos": 176, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn176", "evidence": [ { "id": "P08185", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08185#ptm_processing" } ] }, { "glytoucan_ac": "G48414YA", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 260, "start_aa": "Asn", "end_pos": 260, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn260", "evidence": [ { "id": "788", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/788" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 260, "start_aa": "Asn", "end_pos": 260, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn260", "evidence": [ { "id": "P08185", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08185#ptm_processing" } ] }, { "glytoucan_ac": "G00912UN", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 31, "start_aa": "Asn", "end_pos": 31, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn31", "evidence": [ { "id": "P08185", "database": "UniCarbKB", "url": "" }, { "id": "29671580", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29671580" } ] }, { "glytoucan_ac": "G02030ZB", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 31, "start_aa": "Asn", "end_pos": 31, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn31", "evidence": [ { "id": "788", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/788" }, { "id": "29671580", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29671580" } ] }, { "glytoucan_ac": "G06247RL", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 31, "start_aa": "Asn", "end_pos": 31, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn31", "evidence": [ { "id": "P08185", "database": "UniCarbKB", "url": "" }, { "id": "29671580", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29671580" } ] }, { "glytoucan_ac": "G08293MJ", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 31, "start_aa": "Asn", "end_pos": 31, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn31", "evidence": [ { "id": "P08185", "database": "UniCarbKB", "url": "" }, { "id": "29671580", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29671580" } ] }, { "glytoucan_ac": "G10256JP", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 31, "start_aa": "Asn", "end_pos": 31, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn31", "evidence": [ { "id": "788", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/788" }, { "id": "29671580", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29671580" } ] }, { "glytoucan_ac": "G12580WI", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 31, "start_aa": "Asn", "end_pos": 31, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn31", "evidence": [ { "id": "P08185", "database": "UniCarbKB", "url": "" }, { "id": "29671580", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29671580" } ] }, { "glytoucan_ac": "G14994KB", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 31, "start_aa": "Asn", "end_pos": 31, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn31", "evidence": [ { "id": "788", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/788" }, { "id": "29671580", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29671580" } ] }, { "glytoucan_ac": "G15169WU", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", 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"MSLALYTCLLWLCTSGLWTAQASTNESSNSHRGLAPTNVDFAFNLYQRLVALNPDKNTLISPVSISMALAMVSLGSAQTQSLQSLGFNLTETSEAEIHQSFQYLNYLLKQSDTGLEMNMGNAMFLLQKLKLKDSFLADVKQYYESEALAIDFEDWTKASQQINQHVKDKTQGKIEHVFSDLDSPASFILVNYIFLRGIWELPFSPENTREEDFYVNETSTVKVPMMVQSGSIGYFRDSVFPCQLIQMDYVGNGTAFFILPDQGQMDTVIAALSRDTIDRWGKLMTPRQVNLYIPKFSISDTYDLKDMLEDLNIKDLLTNQSDFSGNTKDVPLTLTMVHKAMLQLDEGNVLPNSTNGAPLHLRSEPLDIKFNKPFILLLFDKFTWSSLMMSQVVNPA", "length": 396 }, "evidence": [ { "id": "45927486", "url": "http://www.informatics.jax.org/homology/45927486", "database": "MGI" }, { "id": "P08185", "url": "https://omabrowser.org/oma/group/P08185/", "database": "OMA" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q06770-1", "protein_name": "Corticosteroid-binding globulin", "gene_name": "Serpina6", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MSLALYTCLFWLCTSGLWTTQAVTDEDSSSHRDLAPTNVDFAFNLYKRLVALNSDKNTLISPVSISMALAMLSLSTRGSTQYLENLGFNMSKMSEAEIHQGFQYLNSLLQQSDTGLEMNMGNVMFLLQNLKLKDSFLADTKHYYESEALTIPSKDWTKAGEQINNHVKNKTQGKIEHVVSDLDSSATLILINYIFLKGIWKLPFSPENTREEDFYVNETSTVKVPMMVQSGNISYFRDSAIPCQMVQMNYVGNGTTFIILPDQGQMDTVVAALNRDTIDRWGKLMIPRQMNLYIPKFSMSDTYDLQDVLADVGIKDLFTNQSDFADTTKDTPLTLTVLHKAMLQLDEGNVLPAATNGPPVHLPSESFTLKYNRPFIFLAFDKYTWSSLMMSQVMNPA", "length": 397 }, "evidence": [ { "id": "45927486", "url": "http://www.informatics.jax.org/homology/45927486", "database": "MGI" }, { "id": "P08185", "url": "https://omabrowser.org/oma/group/P08185/", "database": "OMA" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 2, "go_terms": [ { "name": "serine-type endopeptidase inhibitor activity", "id": "GO:0004867", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004867", "evidence": [ { "database": "UniProtKB", "id": "P08185", "url": "https://www.uniprot.org/uniprot/P08185" } ], "pmid": "" }, { "name": "steroid binding", "id": "GO:0005496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005496", "evidence": [ { "database": "UniProtKB", "id": "P08185", "url": "https://www.uniprot.org/uniprot/P08185" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 3, "go_terms": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P08185", "url": "https://www.uniprot.org/uniprot/P08185" } ], "pmid": "" }, { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "P08185", "url": "https://www.uniprot.org/uniprot/P08185" } ], "pmid": "" }, { "name": "extracellular exosome", "id": "GO:0070062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070062", "evidence": [ { "database": "UniProtKB", "id": "P08185", "url": "https://www.uniprot.org/uniprot/P08185" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 1, "go_terms": [ { "name": "glucocorticoid metabolic process", "id": "GO:0008211", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008211", "evidence": [ { "database": "UniProtKB", "id": "P08185", "url": "https://www.uniprot.org/uniprot/P08185" } ], "pmid": "" } ] } ] }, "pro_annotation": [ { "name": "corticosteroid-binding globulin N-glycosylated 1 (human)", "definition": "A corticosteroid-binding globulin (human) that has been N-glycosylated at the residue equivalent to Asn-31 of the amino acid sequence represented by UniProtKB:P08185-1, in which the glycan composition is represented by GlyTouCan:G00912UN. Example: UniProtKB:P08185-1, Asn-31, MOD:00160~GNO:G00912UN. [PRO:DNx, PMID:29671580]", "evidence": [ { "id": "PR:000054423", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000054423" } ] }, { "name": "corticosteroid-binding globulin N-glycosylated 2 (human)", "definition": "A corticosteroid-binding globulin (human) that has been N-glycosylated at the residue equivalent to Asn-31 of the amino acid sequence represented by UniProtKB:P08185-1, in which the glycan composition is represented by GlyTouCan:G06247RL. Example: UniProtKB:P08185-1, Asn-31, MOD:00160~GNO:G06247RL. [PRO:DNx, PMID:29671580]", "evidence": [ { "id": "PR:000054424", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000054424" } ] }, { "name": "corticosteroid-binding globulin N-glycosylated 3 (human)", "definition": "A corticosteroid-binding globulin (human) that has been N-glycosylated at the residue equivalent to Asn-31 of the amino acid sequence represented by UniProtKB:P08185-1, in which the glycan composition is represented by GlyTouCan:G08293MJ. Example: UniProtKB:P08185-1, Asn-31, MOD:00160~GNO:G08293MJ. [PRO:DNx, PMID:29671580]", "evidence": [ { "id": "PR:000054425", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000054425" } ] }, { "name": "corticosteroid-binding globulin N-glycosylated 4 (human)", "definition": "A corticosteroid-binding globulin (human) that has been N-glycosylated at the residue equivalent to Asn-31 of the amino acid sequence represented by UniProtKB:P08185-1, in which the glycan composition is represented by GlyTouCan:G12580WI. Example: UniProtKB:P08185-1, Asn-31, MOD:00160~GNO:G12580WI. [PRO:DNx, PMID:29671580]", "evidence": [ { "id": "PR:000054426", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000054426" } ] }, { "name": "corticosteroid-binding globulin N-glycosylated 5 (human)", "definition": "A corticosteroid-binding globulin (human) that has been N-glycosylated at the residue equivalent to Asn-31 of the amino acid sequence represented by UniProtKB:P08185-1, in which the glycan composition is represented by GlyTouCan:G45504EY. Example: UniProtKB:P08185-1, Asn-31, MOD:00160~GNO:G45504EY. [PRO:DNx, PMID:29671580]", "evidence": [ { "id": "PR:000054427", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000054427" } ] }, { "name": "corticosteroid-binding globulin N-glycosylated 6 (human)", "definition": "A corticosteroid-binding globulin (human) that has been N-glycosylated at the residue equivalent to Asn-31 of the amino acid sequence represented by UniProtKB:P08185-1, in which the glycan composition is represented by GlyTouCan:G54600FO. Example: UniProtKB:P08185-1, Asn-31, MOD:00160~GNO:G54600FO. [PRO:DNx, PMID:29671580]", "evidence": [ { "id": "PR:000054428", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000054428" } ] }, { "name": "corticosteroid-binding globulin N-glycosylated 7 (human)", "definition": "A corticosteroid-binding globulin (human) that has been N-glycosylated at the residue equivalent to Asn-31 of the amino acid sequence represented by UniProtKB:P08185-1, in which the glycan composition is represented by GlyTouCan:G59937CP. Example: UniProtKB:P08185-1, Asn-31, MOD:00160~GNO:G59937CP. [PRO:DNx, PMID:29671580]", "evidence": [ { "id": "PR:000054429", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000054429" } ] }, { "name": "corticosteroid-binding globulin N-glycosylated 8 (human)", "definition": "A corticosteroid-binding globulin (human) that has been N-glycosylated at the residue equivalent to Asn-31 of the amino acid sequence represented by UniProtKB:P08185-1, in which the glycan composition is represented by GlyTouCan:G83555HU. Example: UniProtKB:P08185-1, Asn-31, MOD:00160~GNO:G83555HU. [PRO:DNx, PMID:29671580]", "evidence": [ { "id": "PR:000054430", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000054430" } ] }, { "name": "corticosteroid-binding globulin N-glycosylated 9 (human)", "definition": "A corticosteroid-binding globulin (human) that has been N-glycosylated at the residue equivalent to Asn-31 of the amino acid sequence represented by UniProtKB:P08185-1, in which the glycan composition is represented by GlyTouCan:G88725PI. Example: UniProtKB:P08185-1, Asn-31, MOD:00160~GNO:G88725PI. [PRO:DNx, PMID:29671580]", "evidence": [ { "id": "PR:000054431", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000054431" } ] }, { "name": "corticosteroid-binding globulin N-glycosylated 10 (human)", "definition": "A corticosteroid-binding globulin (human) that has been N-glycosylated at the residue equivalent to Asn-31 of the amino acid sequence represented by UniProtKB:P08185-1, in which the glycan composition is represented by GlyTouCan:G94917XT. Example: UniProtKB:P08185-1, Asn-31, MOD:00160~GNO:G94917XT. [PRO:DNx, PMID:29671580]", "evidence": [ { "id": "PR:000054432", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000054432" } ] }, { "name": "corticosteroid-binding globulin N-glycosylated 11 (human)", "definition": "A corticosteroid-binding globulin (human) that has been N-glycosylated at the residue equivalent to Asn-96 of the amino acid sequence represented by UniProtKB:P08185-1, in which the glycan composition is represented by GlyTouCan:G00912UN. Example: UniProtKB:P08185-1, Asn-96, MOD:00160~GNO:G00912UN. [PRO:DNx, PMID:29671580]", "evidence": [ { "id": "PR:000054433", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000054433" } ] }, { "name": "corticosteroid-binding globulin N-glycosylated 12 (human)", "definition": "A corticosteroid-binding globulin (human) that has been N-glycosylated at the residue equivalent to Asn-96 of the amino acid sequence represented by UniProtKB:P08185-1, in which the glycan composition is represented by GlyTouCan:G06247RL. Example: UniProtKB:P08185-1, Asn-96, MOD:00160~GNO:G06247RL. [PRO:DNx, PMID:29671580]", "evidence": [ { "id": "PR:000054434", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000054434" } ] }, { "name": "corticosteroid-binding globulin N-glycosylated 13 (human)", "definition": "A corticosteroid-binding globulin (human) that has been N-glycosylated at the residue equivalent to Asn-96 of the amino acid sequence represented by UniProtKB:P08185-1, in which the glycan composition is represented by GlyTouCan:G40926MX. Example: UniProtKB:P08185-1, Asn-96, MOD:00160~GNO:G40926MX. [PRO:DNx, PMID:29671580]", "evidence": [ { "id": "PR:000054435", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000054435" } ] }, { "name": "corticosteroid-binding globulin N-glycosylated 14 (human)", "definition": "A corticosteroid-binding globulin (human) that has been N-glycosylated at the residue equivalent to Asn-96 of the amino acid sequence represented by UniProtKB:P08185-1, in which the glycan structure is represented by GlyTouCan:G42358LZ. Example: UniProtKB:P08185-1, Asn-96, MOD:00160~GNO:G42358LZ. [PRO:DNx, PMID:24279413]", "evidence": [ { "id": "PR:000054436", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000054436" } ] }, { "name": "corticosteroid-binding globulin N-glycosylated 15 (human)", "definition": "A corticosteroid-binding globulin (human) that has been N-glycosylated at the residue equivalent to Asn-96 of the amino acid sequence represented by UniProtKB:P08185-1, in which the glycan composition is represented by GlyTouCan:G59626AS. Example: UniProtKB:P08185-1, Asn-96, MOD:00160~GNO:G59626AS. [PRO:DNx, PMID:29671580]", "evidence": [ { "id": "PR:000054437", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000054437" } ] }, { "name": "corticosteroid-binding globulin O-glycosylated 1 (human)", "definition": "A corticosteroid-binding globulin (human) that has been O-glycosylated at the residue equivalent to Thr-364 of the amino acid sequence represented by UniProtKB:P08185-1, in which the glycan composition is represented by GlyTouCan:G29068FM. Example: UniProtKB:P08185-1, Thr-364, MOD:00005~GNO:G29068FM. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000054438", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000054438" } ] }, { "name": "corticosteroid-binding globulin O-glycosylated 2 (human)", "definition": "A corticosteroid-binding globulin (human) that has been O-glycosylated at the residue equivalent to Thr-364 of the amino acid sequence represented by UniProtKB:P08185-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P08185-1, Thr-364, MOD:00005~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000054439", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000054439" } ] } ], "site_annotation": [ { "start_pos": 176, "end_pos": 178, "annotation": "n_glycosylation_sequon" }, { "start_pos": 260, "end_pos": 262, "annotation": "n_glycosylation_sequon" }, { "start_pos": 31, "end_pos": 33, "annotation": "n_glycosylation_sequon" }, { "start_pos": 330, "end_pos": 332, "annotation": "n_glycosylation_sequon" }, { "start_pos": 369, "end_pos": 371, "annotation": "n_glycosylation_sequon" }, { "start_pos": 96, "end_pos": 98, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "sequence_features": { "n_linked_sites": [ 31, 96, 176, 260, 330, 369 ], "o_linked_sites": [ 41, 364 ], "snv_sites": [ 33, 41, 98, 176, 224, 260, 303, 330, 332, 364, 369, 371, 382, 392 ], "glycation_sites": [], "phosphorylation_sites": [], "sequon_annotation_sites": [ { "start_pos": 176, "end_pos": 178 }, { "start_pos": 260, "end_pos": 262 }, { "start_pos": 31, "end_pos": 33 }, { "start_pos": 330, "end_pos": 332 }, { "start_pos": 369, "end_pos": 371 }, { "start_pos": 96, "end_pos": 98 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 51 }, { "field": "total_sites", "count": 8 }, { "field": "n_linked_glycans", "count": 32 }, { "field": "n_linked_glycan_sites", "count": 11 }, { "field": "o_linked_glycans", "count": 3 }, { "field": "o_linked_glycan_sites", "count": 2 } ], "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": 45 }, { "field": "total_sites", "count": 7 }, { "field": "n_linked_glycans", "count": 32 }, { "field": "n_linked_glycan_sites", "count": 5 }, { "field": "o_linked_glycans", "count": 3 }, { "field": "o_linked_glycan_sites", "count": 2 } ], "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": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_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": 19 }, { "field": "total_sites", "count": 14 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 5 }, { "field": "total_sites", "count": 5 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 14 }, { "field": "total_sites", "count": 11 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 86 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }