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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A2A368" } ], "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": "LNCR1", "description": "" }, { "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 1; LNCR1", "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; LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "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: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; LNCR3", "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": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5; 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": "malignant tumor of the lung", "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": "malignant neoplasm of lung", "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 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": "malignant neoplasm of the lung", "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": "Nonsmall cell lung cancer", "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": "lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "A2A368", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A2A368" } ], "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": 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"sequence": "MSQDQESPRCTHDQHLQTFSETQSLEVAQVSKALEKTLLSSSHPLVPGKLKEAPAAKAESPLEVPQSFCSSSIAVTTTSSSESDEASSNQEEEDSPSSSEDTSDPRNVPADALDQKVAFLVNFMLHKCQMKKPITKADMLKIIIKDDESHFSEILLRASEHLEMIFGLDVVEVDPTTHCYGLFIKLGLTYDGMLSGEKGVPKTGLLIIVLGVIFMKGNRATEEEVWEVLNLTGVYSGKKHFIFGEPRMLITKDFVKEKYLEYQQVANSDPARYEFLWGPRAKAETSKMKVLEFVAKVHGSYPHSFPSQYAEALKEEEERARARI", "length": 324, "header": "sp|A2A368-1|MAGBG_HUMAN Isoform 1 of Melanoma-associated antigen B16 OS=Homo sapiens OX=9606 GN=MAGEB16 PE=4 SV=2 CANONICAL=A2A368-1" }, "isoforms": [ { "isoform_ac": "A0A0A0MSA3-1", "url": "https://www.uniprot.org/uniprot/A2A368#A0A0A0MSA3-1", "sequence": { "sequence": "MGTEAQPVVKAVILHCLPSCPHSCLLPPTRVIMSQDQESPRCTHDQHLQTFSETQSLEVAQVSKALEKTLLSSSHPLVPGKLKEAPAAKAESPLEVPQSFCSSSIAVTTTSSSESDEASSNQEEEDSPSSSEDTSDPRNVPADALDQKVAFLVNFMLHKCQMKKPITKADMLKIIIKDDESHFSEILLRASEHLEMIFGLDVVEVDPTTHCYGLFIKLGLTYDGMLSGEKGVPKTGLLIIVLGVIFMKGNRATEEEVWEVLNLTGVYSGKKHFIFGEPRMLITKDFVKEKYLEYQQVANSDPARYEFLWGPRAKAETSKMKVLEFVAKVHGSYPHSFPSQYAEALKEEEERARARI", "length": 356, "header": "tr|A0A0A0MSA3-1|A0A0A0MSA3_HUMAN Computationally mapped isoform of Melanoma-associated antigen B16 OS=Homo sapiens OX=9606 GN=MAGEB16 PE=1 SV=1 CANONICAL=A2A368-1" }, "locus": { "chromosome": "X", "start_pos": 35803168, "end_pos": 35800539, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000399992", "url": "https://www.ensembl.org/id/ENST00000399992" }, { "database": "Ensembl Peptide", "id": "ENSP00000382874", "url": "https://www.ensembl.org/id/ENSP00000382874" } ] } }, { "isoform_ac": "A2A368-1", "url": "https://www.uniprot.org/uniprot/A2A368#A2A368-1", "sequence": { "sequence": "MSQDQESPRCTHDQHLQTFSETQSLEVAQVSKALEKTLLSSSHPLVPGKLKEAPAAKAESPLEVPQSFCSSSIAVTTTSSSESDEASSNQEEEDSPSSSEDTSDPRNVPADALDQKVAFLVNFMLHKCQMKKPITKADMLKIIIKDDESHFSEILLRASEHLEMIFGLDVVEVDPTTHCYGLFIKLGLTYDGMLSGEKGVPKTGLLIIVLGVIFMKGNRATEEEVWEVLNLTGVYSGKKHFIFGEPRMLITKDFVKEKYLEYQQVANSDPARYEFLWGPRAKAETSKMKVLEFVAKVHGSYPHSFPSQYAEALKEEEERARARI", "length": 324, "header": "sp|A2A368-1|MAGBG_HUMAN Isoform 1 of Melanoma-associated antigen B16 OS=Homo sapiens OX=9606 GN=MAGEB16 PE=4 SV=2 CANONICAL=A2A368-1" }, "locus": { "chromosome": "X", "start_pos": 35803168, "end_pos": 35802197, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000399989", "url": "https://www.ensembl.org/id/ENST00000399989" }, { "database": "Ensembl Peptide", "id": "ENSP00000382871", "url": "https://www.ensembl.org/id/ENSP00000382871" } ] } } ], "glycosylation": [], "phosphorylation": [], "glycation": [], "keywords": [], "publication": [ { "title": "Demethylation of CpG islands in the 5' upstream regions mediates the expression of the human testis-specific gene MAGEB16 and its mouse homolog Mageb16.", "journal": "BMB reports", "date": "2014", "authors": "Liu Y, Wang M, Jiang S, Lu Y, Tao D, Yang Y, Ma Y, Zhang S", "evidence": [ { "database": "RefSeq", "id": "NP_001093391", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001093391" } ], "reference": [ { "type": "PubMed", "id": "24219866", "url": "https://glygen.org/publication/PubMed/24219866" } ] } ], "pathway": [ { "id": "hsa:139604", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:139604", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "Q6AY37-1", "protein_name": "Melanoma-associated antigen B16", "gene_name": "Mageb16", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MSQKNPEYAADHDHTREEMQNLQVAPASSDVEEPCSSSHLMASSLKGHTSEETQVPEDMEEPCSSSQLLTASNQEDPAYETPSTSRGLQHPYVSSSESAKGLGNKEMQGNSVIPPDQPDLPVMTIDGKVNFLVNYMLYKYQVKEMMSMNDIMTLIVREDEHHFHEILMRASERMEMVFGLEVREVDPVNHFYALFIKLGLTYDGMRADEYSFPKTGLLILILGVVFMKGNRATEEEIWEVLNPMGIYAGMNHFIFGDPRELLTDDFVREQYLAYQPIANSDPIQYEYVWGPRAKAETSKMKVLEFVAKVHGSDPTVFPSQYEEALIEEEERTLAMILEQAGPSSASGESSSDMGSNVPHI", "length": 360 }, "evidence": [ { "id": "72569", "url": "http://www.informatics.jax.org/homology/72569", "database": "MGI" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q9CWV4-1", "protein_name": "Melanoma-associated antigen B16", "gene_name": "Mageb16", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MSQSSEECAADQGQTCEETQKLQVAAASIDVEEPCSSPHLMATSLKDQTSEETQVSKDVEEPCSSSQLLMASDQDDSEDETASTSSDLQHPYDSSSESTEDLDDQEVQGSPVIPPDQSDSTDLPVMTVDGKVDFLVNYMLYKYQVKEVMSMNDIMTLIVREDEDRFHEILMRASERMEMVFGLDVKEVDPINHCYALFIKLGLTYDGMRNDEYSFPKTGLLILILGVVFMKGNRATEEEIWEVLNPMGIYAGMTHFMFGDPRELITDEFVREQYLEYQPIANSDPIQYEYVWGLRAKAETSKMRVLEFVAKVHGSDPTVFLSQYEEALIEEEERTLTMLLEHADSSSTSGESSSDTSSNFSQV", "length": 363 }, "evidence": [ { "id": "72569", "url": "http://www.informatics.jax.org/homology/72569", "database": "MGI" } ], "common_name": "Mouse" } ], "go_annotation": {}, "pro_annotation": [], "site_annotation": [ { "start_pos": 230, "end_pos": 232, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" } ] }