{ "uniprot_canonical_ac": "O14817-1", "uniprot_ac": "O14817", "uniprot_id": "TSN4_HUMAN", "mass": { "chemical_mass": 26118.0, "monoisotopic_mass": 26118.0 }, "refseq": { "ac": "NP_001020405", "name": "tetraspanin-4 isoform a", "summary": "The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein and is similar in sequence to its family member CD53 antigen. It is known to complex with integrins and other transmembrane 4 superfamily proteins. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001020405" }, "gene_names": [ { "name": "TSPAN4", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O14817", "id": "O14817" }, { "name": "NAG-2; NAG2; TETRASPAN; TM4SF7; TSPAN-4", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001020405", "id": "NP_001020405" }, { "name": "NAG2", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O14817", "id": "O14817" }, { "name": "TM4SF7", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O14817", "id": "O14817" }, { "name": "TSPAN4", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001020405", "id": "NP_001020405" } ], "protein_names": [ { "name": "Tetraspanin-4", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O14817" }, { "name": "NAG-2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O14817" }, { "name": "Novel antigen 2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O14817" }, { "name": "Transmembrane 4 superfamily member 7", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O14817" }, { "name": "Tspan-4", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O14817" }, { "name": "tetraspanin-4 isoform a", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001020405", "id": "NP_001020405" }, { "name": "transmembrane 4 superfamily member 7; tetraspan TM4SF; novel antigen 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001020405", "id": "NP_001020405" } ], "function": [ { "annotation": "Exome sequencing of child-parent trios with bladder exstrophy: Findings in 26 children.", "evidence": [ { "database": "RefSeq", "id": "NP_001020405", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001020405" }, { "database": "PubMed", "id": "34355505", "url": "https://glygen.org/publication/PubMed/34355505" } ] }, { "annotation": "Identification of TSPAN4 as Novel Histamine H4 Receptor Interactor. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001020405", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001020405" }, { "database": "PubMed", "id": "34439793", "url": "https://glygen.org/publication/PubMed/34439793" } ] }, { "annotation": "TSPAN4 and migrasomes in atherosclerosis regression correlated to myocardial infarction and pan-cancer progression.", "evidence": [ { "database": "RefSeq", "id": "NP_001020405", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001020405" }, { "database": "PubMed", "id": "36513632", "url": "https://glygen.org/publication/PubMed/36513632" } ] }, { "annotation": "The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein and is similar in sequence to its family member CD53 antigen. It is known to complex with integrins and other transmembrane 4 superfamily proteins. Alternatively spliced transcript variants encoding different isoforms have been identified. 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filters: n-glyco-sequon-loss (NAT->SAT).", "chr_id": "11", "chr_pos": "865743", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N161", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs369027951", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs369027951" }, { "id": "rs369027951", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs369027951" }, { "id": "rs369027951", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs369027951#frequency_tab" }, { "id": "rs369027951", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs369027951" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 163, "end_pos": 163, "sequence_org": "T", "sequence_mut": "K", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NAT->NAK).", "chr_id": "11", "chr_pos": "865749", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T163", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O14817", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O14817" }, { "id": "rs369027951", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs369027951" }, { "id": "rs369027951", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs369027951" }, { "id": "rs369027951", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs369027951" }, { "id": "rs369027951", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs369027951#frequency_tab" }, { "id": "rs369027951", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs369027951" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 163, "end_pos": 163, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "M", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NAT->NAM).", "chr_id": "11", "chr_pos": "865749", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "T163", "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", 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"ENSG00000214063", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000214063" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "80.84", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000214063", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000214063" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "81.67", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000214063", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000214063" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "85.2", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000214063", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000214063" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "98.26", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000214063", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000214063" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "83.5", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000214063", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000214063" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "76.38", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000214063", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000214063" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": 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"database": "Bgee", "id": "ENSG00000214063", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000214063" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "93.5", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000214063", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000214063" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "95.77", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000214063", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000214063" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O14817", "url": 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"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": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": 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"" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, 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"https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O14817", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14817" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor 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"https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", 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"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": "O14817", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14817" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": 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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": "O14817", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14817" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "O14817", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14817" } ], "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O14817", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14817" } ], "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": "O14817", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14817" } ], "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": "No", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "O14817", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14817" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "O14817", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14817" } ], "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": 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"database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR018503", "url": "https://www.ebi.ac.uk/interpro/entry/IPR018503", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:7106", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:7106", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "602644", "url": "http://www.omim.org/entry/602644", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O14817", "url": "https://www.nextprot.org/entry/NX_O14817", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "KADTYCT", "url": "https://omabrowser.org/oma/group/KADTYCT/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "3234802at2759", "url": "http://www.orthodb.org/?query=3234802at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR19282", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR19282", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR19282:SF40", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR19282:SF40", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF00335", "url": "http://pfam.xfam.org/family/PF00335", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O14817", "url": "https://pharos.nih.gov/targets/O14817", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O14817", "url": "http://purl.obolibrary.org/obo/PR_O14817", "database": "PRO", "categories": [ "Protein" ] }, { "id": "NP_001020405", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001020405", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "A8MVV6", "url": "https://www.uniprot.org/uniprot/A8MVV6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A8MVV6-1", "url": "https://www.uniprot.org/uniprot/A8MVV6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PMX4", "url": "https://www.uniprot.org/uniprot/E9PMX4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PMX4-1", "url": "https://www.uniprot.org/uniprot/E9PMX4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PN41", "url": "https://www.uniprot.org/uniprot/E9PN41", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PN41-1", "url": "https://www.uniprot.org/uniprot/E9PN41-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PPX8", "url": "https://www.uniprot.org/uniprot/E9PPX8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PPX8-1", "url": "https://www.uniprot.org/uniprot/E9PPX8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PSH3", "url": "https://www.uniprot.org/uniprot/E9PSH3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PSH3-1", "url": "https://www.uniprot.org/uniprot/E9PSH3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "J3KNL1", "url": "https://www.uniprot.org/uniprot/J3KNL1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "J3KNL1-1", "url": "https://www.uniprot.org/uniprot/J3KNL1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "J3KQ42", "url": "https://www.uniprot.org/uniprot/J3KQ42", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "J3KQ42-1", "url": "https://www.uniprot.org/uniprot/J3KQ42-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O14817", "url": "https://www.uniprot.org/uniprot/O14817", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O14817-1", "url": "https://www.uniprot.org/uniprot/O14817-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MARACLQAVKYLMFAFNLLFWLGGCGVLGVGIWLAATQGSFATLSSSFPSLSAANLLIITGAFVMAIGFVGCLGAIKENKCLLLTFFLLLLLVFLLEATIAILFFAYTDKIDRYAQQDLKKGLHLYGTQGNVGLTNAWSIIQTDFRCCGVSNYTDWFEVYNATRVPDSCCLEFSESCGLHAPGTWWKAPCYETVKVWLQENLLAVGIFGLCTALVQILGLTFAMTMYCQVVKADTYCA", "length": 238, "header": "sp|O14817-1|TSN4_HUMAN Isoform 1 of Tetraspanin-4 OS=Homo sapiens OX=9606 GN=TSPAN4 PE=1 SV=1 CANONICAL=O14817-1" }, "isoforms": [ { "isoform_ac": "A8MVV6-1", "url": "", "sequence": { "sequence": "MAIGFVGCLGAIKENKCLLLTFFLLLLLVFLLEATIAILFFAYTDKIDRYAQQDLKKGLHLYGTQGNVGLTNAWSIIQTDFRCCGVSNYTDWFEVYNATRVPDSCCLEFSESCGLHAPGTWWKAPCYETVKVWLQENLLAVGIFGLCTALVQILGLTFAMTMYCQVVKADTYCA", "length": 174, "header": "tr|A8MVV6-1|TSN4_HUMAN Computationally mapped isoform of Tetraspanin-4 OS=Homo sapiens OX=9606 GN=TSPAN4 PE=1 SV=1 CANONICAL=O14817-1" }, "locus": { "chromosome": "11", "start_pos": 866627, "end_pos": 862679, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000525201.5", "url": "https://www.ensembl.org/id/ENST00000525201.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000431943.1", "url": "https://www.ensembl.org/id/ENSP00000431943.1" } ] } }, { "isoform_ac": "E9PMX4-1", "url": "", "sequence": { "sequence": "MARACLQAVKYLMFAFNLLFWLGGCGVLGVGIWLAATQGSFATLSSSFPSLSAANLLIITGAFVMAIGFVGCLGAIKENKCLLLT", "length": 85, "header": "tr|E9PMX4-1|TSN4_HUMAN Computationally mapped isoform of Tetraspanin-4 OS=Homo sapiens OX=9606 GN=TSPAN4 PE=1 SV=1 CANONICAL=O14817-1" }, "locus": { "chromosome": "11", "start_pos": 862741, "end_pos": 850305, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000530404.5", "url": "https://www.ensembl.org/id/ENST00000530404.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000437266.1", "url": "https://www.ensembl.org/id/ENSP00000437266.1" } ] } }, { "isoform_ac": "E9PN41-1", "url": "", "sequence": { "sequence": "MARACLQAVKYLMFAFNLLFWFFLLLLLVFLLEATIAILFFAYTDKIDRYAQQDLKKGLHLYGTQGNVGLTNAWSIIQTDFRCCGVSNYTDWFEVYNATRVPDSCCLEFSESCGLHAPGTWWKAPCYETVKV", "length": 132, "header": "tr|E9PN41-1|TSN4_HUMAN Computationally mapped isoform of Tetraspanin-4 OS=Homo sapiens OX=9606 GN=TSPAN4 PE=1 SV=1 CANONICAL=O14817-1" }, "locus": { "chromosome": "11", "start_pos": 865941, "end_pos": 850305, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000532375.5", "url": "https://www.ensembl.org/id/ENST00000532375.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000434818.1", "url": "https://www.ensembl.org/id/ENSP00000434818.1" } ] } }, { "isoform_ac": "E9PPX8-1", "url": "", "sequence": { "sequence": "MRRSSTDESTYRRSPSPEGKEPDFARGGPFRRYSSLYGRAGGGDAGGSFFGLHANPGPKAAQARYTSPKGNKYVVFYLDLSFIFLLELKRCGMARACLQAVKYLMFAFNLLFWLGGCGVLGVGIWLAATQGSFATLSSSFPSLSAANLLIITGAFVMAIGFVGCLGAIKENKCLLLTFFLLLLLVFLLEATIAILFFAYTDKIDRYAQQDLKKGLHLYGTQGNVGLTNAWSIIQTDFRCCGVSNYTDWFEVYNATRVPDSCCLEFSESCGLHAPGTWWKAPCYETVKVWLQENLLAVGIFGLCTALVQILGLTFAMTMYCQVVKADTYCA", "length": 330, "header": "tr|E9PPX8-1|E9PPX8_HUMAN Computationally mapped isoform of Tetraspanin 4 OS=Homo sapiens OX=9606 GN=TSPAN4 PE=1 SV=2 CANONICAL=O14817-1" }, "locus": { "chromosome": "11", "start_pos": 866627, "end_pos": 850029, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000527644.2", "url": "https://www.ensembl.org/id/ENST00000527644.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000436260.2", "url": "https://www.ensembl.org/id/ENSP00000436260.2" } ] } }, { "isoform_ac": "E9PSH3-1", "url": "", "sequence": { "sequence": "MAIGFVGCLGAIKENKCLLLTFFLLLLLVFLLEATIAILFFAYTDKIDRYAQQDLKKGLHLYGTQGNVGLTNAWSIIQTDFRCCGVSNYTDWFEVYNATR", "length": 100, "header": "tr|E9PSH3-1|TSN4_HUMAN Computationally mapped isoform of Tetraspanin-4 OS=Homo sapiens OX=9606 GN=TSPAN4 PE=1 SV=1 CANONICAL=O14817-1" }, "locus": { "chromosome": "11", "start_pos": 865753, "end_pos": 862679, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000525334.5", "url": "https://www.ensembl.org/id/ENST00000525334.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000433980.1", "url": "https://www.ensembl.org/id/ENSP00000433980.1" } ] } }, { "isoform_ac": "J3KNL1-1", "url": "", "sequence": { "sequence": "MARACLQAVKYLMFAFNLLFWLGGCGVLGVGIWLAATQGSFATLSSSFPSLSAANLLIITGAFVMAIGFVGCLGAIKENKCLLLTFFLLLLLVFLLEATIAILFFAYTDKFRCCGVSNYTDWFEVYNATRVPDSCCLEFSESCGLHAPGTWWKAPCYETVKVWLQENLLAVGIFGLCTALVQILGLTFAMTMYCQVVKADTYCA", "length": 204, "header": "tr|J3KNL1-1|TSN4_HUMAN Computationally mapped isoform of Tetraspanin-4 OS=Homo sapiens OX=9606 GN=TSPAN4 PE=1 SV=1 CANONICAL=O14817-1" }, "locus": { "chromosome": "11", "start_pos": 866627, "end_pos": 850305, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000346501.8", "url": "https://www.ensembl.org/id/ENST00000346501.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000324304.5", "url": "https://www.ensembl.org/id/ENSP00000324304.5" } ] } }, { "isoform_ac": "J3KQ42-1", "url": "", "sequence": { "sequence": "MTPRSAGTSAHGAELKRCGMARACLQAVKYLMFAFNLLFWLGGCGVLGVGIWLAATQGSFATLSSSFPSLSAANLLIITGAFVMAIGFVGCLGAIKENKCLLLTFFLLLLLVFLLEATIAILFFAYTDKIDRYAQQDLKKGLHLYGTQGNVGLTNAWSIIQTDFRCCGVSNYTDWFEVYNATRVPDSCCLEFSESCGLHAPGTWWKAPCYETVKVWLQENLLAVGIFGLCTALVQILGLTFAMTMYCQVVKADTYCA", "length": 257, "header": "tr|J3KQ42-1|TSN4_HUMAN Computationally mapped isoform of Tetraspanin-4 OS=Homo sapiens OX=9606 GN=TSPAN4 PE=1 SV=1 CANONICAL=O14817-1" }, "locus": { "chromosome": "11", "start_pos": 866627, "end_pos": 848894, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000409531.5", "url": "https://www.ensembl.org/id/ENST00000409531.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000386899.1", "url": "https://www.ensembl.org/id/ENSP00000386899.1" } ] } }, { "isoform_ac": "O14817-1", "url": "", "sequence": { "sequence": "MARACLQAVKYLMFAFNLLFWLGGCGVLGVGIWLAATQGSFATLSSSFPSLSAANLLIITGAFVMAIGFVGCLGAIKENKCLLLTFFLLLLLVFLLEATIAILFFAYTDKIDRYAQQDLKKGLHLYGTQGNVGLTNAWSIIQTDFRCCGVSNYTDWFEVYNATRVPDSCCLEFSESCGLHAPGTWWKAPCYETVKVWLQENLLAVGIFGLCTALVQILGLTFAMTMYCQVVKADTYCA", "length": 238, "header": "sp|O14817-1|TSN4_HUMAN Isoform 1 of Tetraspanin-4 OS=Homo sapiens OX=9606 GN=TSPAN4 PE=1 SV=1 CANONICAL=O14817-1" }, "locus": { "chromosome": "11", "start_pos": 866627, "end_pos": 850305, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000397406.5", "url": "https://www.ensembl.org/id/ENST00000397406.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000380554.1", "url": "https://www.ensembl.org/id/ENSP00000380554.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 152, "start_aa": "Asn", "end_pos": 152, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn152", "evidence": [ { "id": "O14817", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O14817#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 161, "start_aa": "Asn", "end_pos": 161, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn161", "evidence": [ { "id": "O14817", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O14817#ptm_processing" }, { "id": "19159218", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19159218" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_predicted", "glycoprotein_reported" ], "publication": [ { "title": "The consensus coding sequences of human breast and colorectal cancers.", "journal": "Science (New York, N.Y.)", "date": "2006", "authors": "Sjoblom T, Jones S, Wood LD, Parsons DW, Lin J, Barber TD, Mandelker D, Leary RJ, Ptak J, Silliman N, Szabo S, Buckhaults P, Farrell C, Meeh P, Markowitz SD, Willis J, Dawson D, Willson JK, Gazdar AF, Hartigan J, Wu L, Liu C, Parmigiani G, Park BH, Bachman KE, Papadopoulos N, Vogelstein B, Kinzler KW, Velculescu VE", "evidence": [ { "database": "UniProtKB", "id": "O14817", "url": "https://www.uniprot.org/uniprot/O14817" } ], "reference": [ { "type": "PubMed", "id": "16959974", "url": "https://glygen.org/publication/PubMed/16959974" } ] }, { "title": "Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry.", "journal": "Journal of proteome research", "date": "2009", "authors": "Chen R, Jiang X, Sun D, Han G, Wang F, Ye M, Wang L, Zou H", "evidence": [ { "database": "UniProtKB", "id": "O14817", "url": "https://www.uniprot.org/uniprot/O14817#ptm_processing" }, { "database": "UniProtKB", "id": "O14817", "url": "https://www.uniprot.org/uniprot/O14817" } ], "reference": [ { "type": "PubMed", "id": "19159218", "url": "https://glygen.org/publication/PubMed/19159218" } ] }, { "title": "Exome sequencing of child-parent trios with bladder exstrophy: Findings in 26 children.", "journal": "American journal of medical genetics. Part A", "date": "2021", "authors": "Pitsava G, Feldkamp ML, Pankratz N, Lane J, Kay DM, Conway KM, Shaw GM, Reefhuis J, Jenkins MM, Almli LM, Olshan AF, Pangilinan F, Brody LC, Sicko RJ, Hobbs CA, Bamshad M, McGoldrick D, Nickerson DA, Finnell RH, Mullikin J, Romitti PA, Mills JL", "evidence": [ { "database": "RefSeq", "id": "NP_001020405", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001020405" } ], "reference": [ { "type": "PubMed", "id": "34355505", "url": "https://glygen.org/publication/PubMed/34355505" } ] }, { "title": "Identification of TSPAN4 as Novel Histamine H4 Receptor Interactor.", "journal": "Biomolecules", "date": "2021", "authors": "Ma X, Verweij EWE, Siderius M, Leurs R, Vischer HF", "evidence": [ { "database": "RefSeq", "id": "NP_001020405", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001020405" } ], "reference": [ { "type": "PubMed", "id": "34439793", "url": "https://glygen.org/publication/PubMed/34439793" } ] }, { "title": "TSPAN4 and migrasomes in atherosclerosis regression correlated to myocardial infarction and pan-cancer progression.", "journal": "Cell adhesion & migration", "date": "2023-12", "authors": "Zheng Yue, Lang Yuheng, Qi Bingcai, Li Tong", "evidence": [ { "database": "RefSeq", "id": "NP_001020405", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001020405" } ], "reference": [ { "type": "PubMed", "id": "36513632", "url": "https://glygen.org/publication/PubMed/36513632" } ] }, { "title": "NAG-2, a novel transmembrane-4 superfamily (TM4SF) protein that complexes with integrins and other TM4SF proteins.", "journal": "J. Biol. Chem.", "date": "1997", "authors": "Tachibana I, Bodorova J, Berditchevski F, Zutter MM, Hemler ME", "evidence": [ { "database": "UniProtKB", "id": "O14817", "url": "https://www.uniprot.org/uniprot/O14817" } ], "reference": [ { "type": "PubMed", "id": "9360996", "url": "https://glygen.org/publication/PubMed/9360996" } ] }, { "title": "Sequences and expression of six new members of the tetraspanin/TM4SF family.", "journal": "Biochim. Biophys. Acta", "date": "1998", "authors": "Todd S C, Doctor V S, Levy S", "evidence": [ { "database": "UniProtKB", "id": "O14817", "url": "https://www.uniprot.org/uniprot/O14817" } ], "reference": [ { "type": "PubMed", "id": "9714763", "url": "https://glygen.org/publication/PubMed/9714763" } ] } ], "pathway": [ { "id": "hsa:7106", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:7106", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "A6HY09-1", "protein_name": "Tetraspanin", "gene_name": "Tspan4", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MARGCLQGVKYLMFAFNLLFWLGGCGVLGVGIWLAATQGNFATLSSSFPSLSAANLLIVTGTFVMAIGFVGCIGALKENKCLLLTFFVLLLLVFLLEATIAVLFFAYSDKIDSYAQQDLKKGLHLYGTEGNVGLTNAWSIIQTDFRCCGVSNYTDWFEVYNATRVPDSCCLEFSDSCGLHEPGTWWKSPCYETVKAWLQENLLAVGIFGLCTALVQILGLTFAMTMYCQVVKADTYCA", "length": 238 }, "evidence": [ { "id": "45930749", "url": "http://www.informatics.jax.org/homology/45930749", "database": "MGI" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q9DCK3-1", "protein_name": "Tetraspanin-4", "gene_name": "Tspan4", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MARGCLQGVKYLMFAFNLLFWLGGCGVLGVGIWLAATQGNFATLSSSFPSLSAANLLIVTGTFVMAIGFVGCIGALKENKCLLLTFFVLLLLVFLLEATIAVLFFAYSDKIDSYAQQDLKKGLHLYGTQGNVGLTNAWSIIQTDFRCCGVSNYTDWFEVYNATRVPDSCCLEFSDSCGLHEPGTWWKSPCYETVKAWLQENLLAVGIFGLCTALVQILGLTFAMTMYCQVVKADTYCA", "length": 238 }, "evidence": [ { "id": "45930749", "url": "http://www.informatics.jax.org/homology/45930749", "database": "MGI" }, { "id": "O14817", "url": "https://omabrowser.org/oma/group/O14817/", "database": "OMA" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 4, "go_terms": [ { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "O14817", "url": "https://www.uniprot.org/uniprot/O14817" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "O14817", "url": "https://www.uniprot.org/uniprot/O14817" } ], "pmid": "" }, { "name": "focal adhesion", "id": "GO:0005925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005925", "evidence": [ { "database": "UniProtKB", "id": "O14817", "url": "https://www.uniprot.org/uniprot/O14817" } ], "pmid": "" }, { "name": "vesicle", "id": "GO:0031982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031982", "evidence": [ { "database": "UniProtKB", "id": "O14817", "url": "https://www.uniprot.org/uniprot/O14817" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 2, "go_terms": [ { "name": "integrin binding", "id": "GO:0005178", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005178", "evidence": [ { "database": "UniProtKB", "id": "O14817", "url": "https://www.uniprot.org/uniprot/O14817" } ], "pmid": "" }, { "name": "antigen binding", 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"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_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_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": 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