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"https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": 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"https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", 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"MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL 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"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, 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"http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - 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"https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", 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"MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", 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"name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "Q9NWL6", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q9NWL6" } ], "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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}, { "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": 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"description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "No", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "Q9NWL6", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q9NWL6" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", 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"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" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NWL6", "url": "https://www.uniprot.org/uniprot/Q9NWL6" } ], "common_name": "Human" } ], "gene": [ { "name": "ASNSD1", "url": "https://www.uniprot.org/uniprot/Q9NWL6", "locus": { "chromosome": "2", "start_pos": 189670831, "end_pos": 189661385, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000138381", "url": "https://www.ensembl.org/id/ENSG00000138381" } ] } } ], "crossref": [ { "id": "ENSG00000138381", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000138381", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "Q9NWL6", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/Q9NWL6", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "cd01991", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd01991", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "cd03766", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd03766", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "ASNSD1", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=ASNSD1", "database": "GeneCards", "categories": [ "Organism-specific", "Gene Annotation" ] }, { "id": "54529", "url": "https://www.ncbi.nlm.nih.gov/gene/54529", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "24910", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=24910", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "Q9NWL6", "url": "https://www.ebi.ac.uk/intact/interactors/id:Q9NWL6*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR001962", "url": "https://www.ebi.ac.uk/interpro/entry/IPR001962", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR014729", "url": "https://www.ebi.ac.uk/interpro/entry/IPR014729", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR017932", "url": "https://www.ebi.ac.uk/interpro/entry/IPR017932", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR029055", "url": "https://www.ebi.ac.uk/interpro/entry/IPR029055", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:54529", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:54529", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "619739", "url": "http://www.omim.org/entry/619739", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_Q9NWL6", "url": "https://www.nextprot.org/entry/NX_Q9NWL6", "database": "neXtProt", "categories": [ "Organism-specific", "Protein" ] }, { "id": "GYTRHAT", "url": "https://omabrowser.org/oma/group/GYTRHAT/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "168254at2759", "url": "http://www.orthodb.org/?query=168254at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR45937", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR45937", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR45937:SF1", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR45937:SF1", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF00733", "url": "http://pfam.xfam.org/family/PF00733", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "Q9NWL6", "url": "https://pharos.nih.gov/targets/Q9NWL6", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_Q9NWL6", "url": "http://purl.obolibrary.org/obo/PR_Q9NWL6", "database": "PRO", "categories": [ "Protein" ] }, { "id": "NP_061921", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_061921", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "C9IYZ1", "url": "https://www.uniprot.org/uniprot/C9IYZ1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9IYZ1-1", "url": "https://www.uniprot.org/uniprot/C9IYZ1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9J6C1", "url": "https://www.uniprot.org/uniprot/C9J6C1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9J6C1-1", "url": "https://www.uniprot.org/uniprot/C9J6C1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q9NWL6", "url": "https://www.uniprot.org/uniprot/Q9NWL6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q9NWL6-1", "url": "https://www.uniprot.org/uniprot/Q9NWL6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "U3KQK8", "url": "https://www.uniprot.org/uniprot/U3KQK8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "U3KQK8-1", "url": "https://www.uniprot.org/uniprot/U3KQK8-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MCGICCSVNFSAEHFSQDLKEDLLYNLKQRGPNSSKQLLKSDVNYQCLFSAHVLHLRGVLTTQPVEDERGNVFLWNGEIFSGIKVEAEENDTQILFNYLSSCKNESEILSLFSEVQGPWSFIYYQASSHYLWFGRDFFGRRSLLWHFSNLGKSFCLSSVGTQTSGLANQWQEVPASGLFRIDLKSTVISGCIILQLYPWKYISRENIIEENVNSLSQISADLPAFVSVVANEAKLYLEKPVVPLNMMLPQAALETHCSNISNVPPTREILQVFLTDVHMKEVIQQFIDVLSVAVKKRVLCLPRDENLTANEVLKTCDRKANVAILFSGGIDSMVIATLADRHIPLDEPIDLLNVAFIAEEKTMPTTFNREGNKQKNKCEIPSEEFSKDVAAAAADSPNKHVSVPDRITGRAGLKELQAVSPSRIWNFVEINVSMEELQKLRRTRICHLIRPLDTVLDDSIGCAVWFASRGIGWLVAQEGVKSYQSNAKVVLTGIGADEQLAGYSRHRVRFQSHGLEGLNKEIMMELGRISSRNLGRDDRVIGDHGKEARFPFLDENVVSFLNSLPIWEKANLTLPRGIGEKLLLRLAAVELGLTASALLPKRAMQFGSRIAKMEKINEKASDKCGRLQIMSLENLSIEKETKL", "length": 643, "header": "sp|Q9NWL6-1|ASND1_HUMAN Isoform 1 of Asparagine synthetase domain-containing protein 1 OS=Homo sapiens OX=9606 GN=ASNSD1 PE=2 SV=2 CANONICAL=Q9NWL6-1" }, "isoforms": [ { "isoform_ac": "C9IYZ1-1", "url": "", "sequence": { "sequence": "MCGICCSVNFSAEHFSQDLKEDLLYNLKQRGPNSSKQLLKSDVNYQCLFSAHVLHLRGVLTTQPVEDERGNVFLWNGEIFSGIKVEAEENDTQILFNYLSSCKNESEILSLFSEVQGPWSFIYYQASSHYLWFGRDFFGRRSLLWHFSNLGKSFCLSSVGTQTSGLANQWQEVPASGLFRIDLKSTVISGCIILQLYPWKYISRENIIEENVNSLSQISADLPAFVSVVANEAKLYLEKPVVPLNMMLPQAALETHCSNISNVPPTREILQVFLTDVHMKEVIQQFIDVLSVAVKKRVLCLPRDENLTANEVLKTCDRKANVAILFSGGIDSMVIATLADRHIPLDEPIDLLNVAFIAEEKTMPTTFNREGNKQKNKCEIPSEEFSKDVAAAAADSPNKHVSVPDRITGRAGLKELQAVSPSRIWNFVEINVSMEELQKLRRTRICHLIRPLDTVLDDSIGCAVWFASRGIGWLVAQEGVKSYQSNAKVVLTGIGADEQLAGYSRHRVRFQSHGLEGLNKEIMMELGRISSRNLGRDDRVIGDHGKEARFPFLDENVVSFLNSLPIWEKANLTLPRGIGEKLLLRLAAVELGLTASALLPKRAMQFGSRIAKMEKINE", "length": 618, "header": "tr|C9IYZ1-1|ASND1_HUMAN Computationally mapped isoform of Asparagine synthetase domain-containing protein 1 OS=Homo sapiens OX=9606 GN=ASNSD1 PE=2 SV=1 CANONICAL=Q9NWL6-1" }, "locus": { "chromosome": "2", "start_pos": 189670648, "end_pos": 189666133, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000420250.1", "url": "https://www.ensembl.org/id/ENST00000420250.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000406790.1", "url": "https://www.ensembl.org/id/ENSP00000406790.1" } ] } }, { "isoform_ac": "C9J6C1-1", "url": "", "sequence": { "sequence": "MCGICCSVNFSAEHFSQDLKEDLLYNLKQRGPNSSKQLLKSDVNYQCLFSAHVLHLRGVLTTQPVEDERGNVF", "length": 73, "header": "tr|C9J6C1-1|ASND1_HUMAN Computationally mapped isoform of Asparagine synthetase domain-containing protein 1 OS=Homo sapiens OX=9606 GN=ASNSD1 PE=2 SV=1 CANONICAL=Q9NWL6-1" }, "locus": { "chromosome": "2", "start_pos": 189666351, "end_pos": 189666133, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000425590.1", "url": "https://www.ensembl.org/id/ENST00000425590.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000398129.1", "url": "https://www.ensembl.org/id/ENSP00000398129.1" } ] } }, { "isoform_ac": "Q9NWL6-1", "url": "", "sequence": { "sequence": "MCGICCSVNFSAEHFSQDLKEDLLYNLKQRGPNSSKQLLKSDVNYQCLFSAHVLHLRGVLTTQPVEDERGNVFLWNGEIFSGIKVEAEENDTQILFNYLSSCKNESEILSLFSEVQGPWSFIYYQASSHYLWFGRDFFGRRSLLWHFSNLGKSFCLSSVGTQTSGLANQWQEVPASGLFRIDLKSTVISGCIILQLYPWKYISRENIIEENVNSLSQISADLPAFVSVVANEAKLYLEKPVVPLNMMLPQAALETHCSNISNVPPTREILQVFLTDVHMKEVIQQFIDVLSVAVKKRVLCLPRDENLTANEVLKTCDRKANVAILFSGGIDSMVIATLADRHIPLDEPIDLLNVAFIAEEKTMPTTFNREGNKQKNKCEIPSEEFSKDVAAAAADSPNKHVSVPDRITGRAGLKELQAVSPSRIWNFVEINVSMEELQKLRRTRICHLIRPLDTVLDDSIGCAVWFASRGIGWLVAQEGVKSYQSNAKVVLTGIGADEQLAGYSRHRVRFQSHGLEGLNKEIMMELGRISSRNLGRDDRVIGDHGKEARFPFLDENVVSFLNSLPIWEKANLTLPRGIGEKLLLRLAAVELGLTASALLPKRAMQFGSRIAKMEKINEKASDKCGRLQIMSLENLSIEKETKL", "length": 643, "header": "sp|Q9NWL6-1|ASND1_HUMAN Isoform 1 of Asparagine synthetase domain-containing protein 1 OS=Homo sapiens OX=9606 GN=ASNSD1 PE=2 SV=2 CANONICAL=Q9NWL6-1" }, "locus": { "chromosome": "2", "start_pos": 189670723, "end_pos": 189666133, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000260952.9", "url": "https://www.ensembl.org/id/ENST00000260952.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000260952.4", "url": "https://www.ensembl.org/id/ENSP00000260952.4" } ] } }, { "isoform_ac": "U3KQK8-1", "url": "", "sequence": { "sequence": "MCGICCSVVLTGIGADEQLAGYSRHRVRFQSHGLEGLNKEIMMELGRISSRNLGRDDRVIGDHGKEARFPFLDENVVSFLNSLPIWEKANLTLPRGIGEKLLLRLAAVELGLTASALLPKRAMQFGSRIAKMEKINEKASDKCGRLQIMSLENLSIEKETKL", "length": 162, "header": "tr|U3KQK8-1|ASND1_HUMAN Computationally mapped isoform of Asparagine synthetase domain-containing protein 1 OS=Homo sapiens OX=9606 GN=ASNSD1 PE=2 SV=1 CANONICAL=Q9NWL6-1" }, "locus": { "chromosome": "2", "start_pos": 189670723, "end_pos": 189666133, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000607062.5", "url": "https://www.ensembl.org/id/ENST00000607062.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000475970.1", "url": "https://www.ensembl.org/id/ENSP00000475970.1" } ] } } ], "glycosylation": [], "phosphorylation": [ { "start_pos": 512, "end_pos": 512, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q9NWL6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NWL6" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser512" }, { "start_pos": 641, "end_pos": 641, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q9NWL6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NWL6" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Thr641" } ], "glycation": [], "keywords": [], "publication": [ { "title": "Neuroblastoma oligo-capping cDNA project: toward the understanding of the genesis and biology of neuroblastoma.", "journal": "Cancer Lett.", "date": "2003", "authors": "Ohira M, Morohashi A, Nakamura Y, Isogai E, Furuya K, Hamano S, Machida T, Aoyama M, Fukumura M, Miyazaki K, Suzuki Y, Sugano S, Hirato J, Nakagawara A", "evidence": [ { "database": "UniProtKB", "id": "Q9NWL6", "url": "https://www.uniprot.org/uniprot/Q9NWL6" } ], "reference": [ { "type": "PubMed", "id": "12880961", "url": "https://glygen.org/publication/PubMed/12880961" } ] }, { "title": "Construction of eukaryotic expression plasmid containing HCV NS3 segment and protein expression in human HL-7702 hepatocytes.", "journal": "World journal of gastroenterology", "date": "2006", "authors": "Li JW, Li K, Jiang J, Xu XL, Huang ZQ", "evidence": [ { "database": "RefSeq", "id": "NP_061921", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_061921" } ], "reference": [ { "type": "PubMed", "id": "16534843", "url": "https://glygen.org/publication/PubMed/16534843" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "iPTMnet", "id": "Q9NWL6-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NWL6-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "title": "Peptidomic discovery of short open reading frame-encoded peptides in human cells.", "journal": "Nat. Chem. Biol.", "date": "2013", "authors": "Slavoff SA, Mitchell AJ, Schwaid AG, Cabili MN, Ma J, Levin JZ, Karger AD, Budnik BA, Rinn JL, Saghatelian A", "evidence": [ { "database": "UniProtKB", "id": "Q9NWL6", "url": "https://www.uniprot.org/uniprot/Q9NWL6" } ], "reference": [ { "type": "PubMed", "id": "23160002", "url": "https://glygen.org/publication/PubMed/23160002" } ] }, { "title": "Direct detection of alternative open reading frames translation products in human significantly expands the proteome.", "journal": "PLoS ONE", "date": "2013", "authors": "Boisvert F.-M., Roucou X., Tremblay G., Vanderperre B., Lucier J.-F., Motard J., Salzet M., Vanderperre S., Wisztorski M.", "evidence": [ { "database": "UniProtKB", "id": "Q9NWL6", "url": "https://www.uniprot.org/uniprot/Q9NWL6" } ], "reference": [ { "type": "PubMed", "id": "23950983", "url": "https://glygen.org/publication/PubMed/23950983" } ] }, { "title": "Identification and characterization of sORF-encoded polypeptides.", "journal": "Crit. Rev. Biochem. Mol. Biol.", "date": "2015", "authors": "Ma J., Chu Q., Saghatelian A.", "evidence": [ { "database": "UniProtKB", "id": "Q9NWL6", "url": "https://www.uniprot.org/uniprot/Q9NWL6" } ], "reference": [ { "type": "PubMed", "id": "25857697", "url": "https://glygen.org/publication/PubMed/25857697" } ] } ], "pathway": [ { "id": "hsa:54529", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:54529", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "Q8BFS9-1", "protein_name": "Asparagine synthetase domain-containing protein 1", "gene_name": "Asnsd1", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MCGICCSVSFSIEHFSKELKEDLLHNLRRRGPNSSRQLLKSAVNYQCLFSGHVLHLRGVLTIQPVEDEHGNVFLWNGEVFNGVKVEAEDNDTQVMFNSLSACKNESEILLLFSKVQGPWSFIYYQASSHHLWFGRDFFGRRSLLWQFSNLGKSFCLSSVGTQVYGVADQWQEVPASGIFQIDLNSAAVSRSVILKLYPWRYISKEDIAEECGNDLTQTPAGLPEFVSVVINEANLYLSKPVVPLNKKLPESPLEIQCRNSSSTSGTRETLEVFLTDEHTKKIVQQFIAILNVSVKRRILCLAREENLASKEVLKTCSSKANIAILFSGGVDSMVIAALADRHIPLDEPIDLLNVAFVPKQKTGLPIPNIERKQQNHHEIPSEESSQSPAADEGPGEAEVPDRVTGKAGLKELQSVNPSRTWNFVEINVSLEELQKLRRARICHLVQPLDTVLDDSIGCAVWFASRGIGWLVTQDAVRSYKSSAKVILTGIGADEQLAGYSRHRARFQSLGLEGLNEEIAMELGRISSRNLGRDDRVIGDHGKEARFPFLDENVVSFLNSLPVWEKVDLTLPRGVGEKLILRLAAMELGLPASALLPKRAIQFGSRIAKLEKSNEKASDKCGRLQILP", "length": 627 }, "evidence": [ { "id": "45226013", "url": "http://www.informatics.jax.org/homology/45226013", "database": "MGI" }, { "id": "Q9NWL6", "url": "https://omabrowser.org/oma/group/Q9NWL6/", "database": "OMA" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 1, "go_terms": [ { "name": "asparagine 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