{ "uniprot_canonical_ac": "O15481-1", "uniprot_ac": "O15481", "uniprot_id": "MAGB4_HUMAN", "mass": { "chemical_mass": 38923.0, "monoisotopic_mass": 38923.0 }, "refseq": { "ac": "NP_002358", "name": "melanoma-associated antigen B4", "summary": "This gene is a member of the MAGEB gene family. The members of this family have their entire coding sequences located in the last exon, and the encoded proteins show 50 to 68% sequence identity to each other. The promoters and first exons of the MAGEB genes show considerable variability, suggesting that the existence of this gene family enables the same function to be expressed under different transcriptional controls. The MAGEB genes are clustered on chromosome Xp22-p21. This gene sequence ends in the first intron of MAGEB1, another family member. This gene is expressed in testis. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002358" }, "gene_names": [ { "name": "MAGEB4", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O15481", "id": "O15481" }, { "name": "CT3.6", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002358", "id": "NP_002358" }, { "name": "MAGEB4", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002358", "id": "NP_002358" } ], "protein_names": [ { "name": "Melanoma-associated antigen B4", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O15481" }, { "name": "MAGE-B4 antigen", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15481" }, { "name": "cancer/testis antigen family 3, member 6; MAGE-B4 antigen; melanoma antigen family B, 4; melanoma antigen family B4", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002358", "id": "NP_002358" }, { "name": "melanoma-associated antigen B4", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002358", "id": "NP_002358" } ], "function": [ { "annotation": "High MAGEB4 expression is associated with Transitional Cell Carcinoma of Bladder.", "evidence": [ { "database": "RefSeq", "id": "NP_002358", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002358" }, { "database": "PubMed", "id": "29058301", "url": "https://glygen.org/publication/PubMed/29058301" } ] }, { "annotation": "The whole exome analysis of a consanguineous Turkish family revealed MAGEB4 as a possible new X-linked cause of inherited male infertility. This study provides the first clue to the physiological function of a MAGE protein.", "evidence": [ { "database": "RefSeq", "id": "NP_002358", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002358" }, { "database": "PubMed", "id": "28401488", "url": "https://glygen.org/publication/PubMed/28401488" } ] }, { "annotation": "This gene is a member of the MAGEB gene family. The members of this family have their entire coding sequences located in the last exon, and the encoded proteins show 50 to 68% sequence identity to each other. The promoters and first exons of the MAGEB genes show considerable variability, suggesting that the existence of this gene family enables the same function to be expressed under different transcriptional controls. The MAGEB genes are clustered on chromosome Xp22-p21. This gene sequence ends in the first intron of MAGEB1, another family member. This gene is expressed in testis. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_002358", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002358" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "O15481", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O15481" } ], "glycoeffect": [], "start_pos": 15, "end_pos": 15, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "X", "chr_pos": "30242179", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R15", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] }, { "disease_id": "DOID: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", 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"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" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. 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"https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "36.76", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000120289", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000120289" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "41.27", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000120289", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000120289" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "27.66", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000120289", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000120289" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "49.96", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000120289", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000120289" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "17.43", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000120289", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000120289" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "23.55", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000120289", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000120289" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "47.76", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000120289", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000120289" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "26.53", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000120289", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000120289" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "18.06", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000120289", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000120289" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "47.6", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000120289", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000120289" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "24.08", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000120289", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000120289" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "22.92", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000120289", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000120289" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "27.48", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000120289", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000120289" } ] } ], "expression_disease": [ { "significant": "No", "trend": "up", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "O15481", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15481" } ], "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, 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"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": 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"https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "O15481", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15481" } ], "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": "" }, { 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"https://www.uniprot.org/uniprot/O15481", "locus": { "chromosome": "X", "start_pos": 30244187, "end_pos": 30242000, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000120289", "url": "https://www.ensembl.org/id/ENSG00000120289" } ] } } ], "crossref": [ { "id": "ENSG00000120289", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000120289", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "O15481", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O15481", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "MAGEB4", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAGEB4", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "4115", "url": "https://www.ncbi.nlm.nih.gov/gene/4115", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "6811", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=6811", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "O15481", "url": "https://www.ebi.ac.uk/intact/interactors/id:O15481*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR002190", "url": "https://www.ebi.ac.uk/interpro/entry/IPR002190", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR021072", "url": "https://www.ebi.ac.uk/interpro/entry/IPR021072", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR037445", "url": "https://www.ebi.ac.uk/interpro/entry/IPR037445", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR041898", "url": "https://www.ebi.ac.uk/interpro/entry/IPR041898", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR041899", "url": "https://www.ebi.ac.uk/interpro/entry/IPR041899", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:4115", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:4115", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "300153", "url": "http://www.omim.org/entry/300153", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O15481", "url": "https://www.nextprot.org/entry/NX_O15481", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "O15481", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O15481", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "NGNCARE", "url": "https://omabrowser.org/oma/group/NGNCARE/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "3128316at2759", "url": "http://www.orthodb.org/?query=3128316at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR11736", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11736", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR11736:SF22", "url": 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"UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MPRGQKSKLRAREKRQRTRGQTQDLKVGQPTAAEKEESPSSSSSVLRDTASSSLAFGIPQEPQREPPTTSAAAAMSCTGSDKGDESQDEENASSSQASTSTERSLKDSLTRKTKMLVQFLLYKYKMKEPTTKAEMLKIISKKYKEHFPEIFRKVSQRTELVFGLALKEVNPTTHSYILVSMLGPNDGNQSSAWTLPRNGLLMPLLSVIFLNGNCAREEEIWEFLNMLGIYDGKRHLIFGEPRKLITQDLVQEKYLEYQQVPNSDPPRYQFLWGPRAHAETSKMKVLEFLAKVNDTTPNNFPLLYEEALRDEEERAGARPRVAARRGTTAMTSAYSRATSSSSSQPM", "length": 346, "header": "sp|O15481-1|MAGB4_HUMAN Isoform 1 of Melanoma-associated antigen B4 OS=Homo sapiens OX=9606 GN=MAGEB4 PE=1 SV=1 CANONICAL=O15481-1" }, "isoforms": [ { "isoform_ac": "O15481-1", "url": "", "sequence": { "sequence": "MPRGQKSKLRAREKRQRTRGQTQDLKVGQPTAAEKEESPSSSSSVLRDTASSSLAFGIPQEPQREPPTTSAAAAMSCTGSDKGDESQDEENASSSQASTSTERSLKDSLTRKTKMLVQFLLYKYKMKEPTTKAEMLKIISKKYKEHFPEIFRKVSQRTELVFGLALKEVNPTTHSYILVSMLGPNDGNQSSAWTLPRNGLLMPLLSVIFLNGNCAREEEIWEFLNMLGIYDGKRHLIFGEPRKLITQDLVQEKYLEYQQVPNSDPPRYQFLWGPRAHAETSKMKVLEFLAKVNDTTPNNFPLLYEEALRDEEERAGARPRVAARRGTTAMTSAYSRATSSSSSQPM", "length": 346, "header": "sp|O15481-1|MAGB4_HUMAN Isoform 1 of Melanoma-associated antigen B4 OS=Homo sapiens OX=9606 GN=MAGEB4 PE=1 SV=1 CANONICAL=O15481-1" }, "locus": { "chromosome": "X", "start_pos": 30243173, "end_pos": 30242136, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000378982.4", "url": "https://www.ensembl.org/id/ENST00000378982.4" }, { "database": "Ensembl Peptide", "id": "ENSP00000368266.2", "url": "https://www.ensembl.org/id/ENSP00000368266.2" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "O15481", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O15481" }, { "id": "29485866", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29485866" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "A no-stop mutation in MAGEB4 is a possible cause of rare X-linked azoospermia and oligozoospermia in a consanguineous Turkish family.", "journal": "Journal of assisted reproduction and genetics", "date": "2017", "authors": "Okutman O, Muller J, Skory V, Garnier JM, Gaucherot A, Baert Y, Lamour V, Serdarogullari M, Gultomruk M, Ropke A, Kliesch S, Herbepin V, Aknin I, Benkhalifa M, Teletin M, Bakircioglu E, Goossens E, Charlet-Berguerand N, Bahceci M, Tuttelmann F, Viville S", "evidence": [ { "database": "RefSeq", "id": "NP_002358", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002358" } ], "reference": [ { "type": "PubMed", "id": "28401488", "url": "https://glygen.org/publication/PubMed/28401488" } ] }, { "title": "Cancer-Testis Antigens as New Candidate Diagnostic Biomarkers for Transitional Cell Carcinoma of Bladder.", "journal": "Pathology oncology research : POR", "date": "2019", "authors": "Afsharpad M, Nowroozi MR, Mobasheri MB, Ayati M, Nekoohesh L, Saffari M, Zendehdel K, Modarressi MH", "evidence": [ { "database": "RefSeq", "id": "NP_002358", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002358" } ], "reference": [ { "type": "PubMed", "id": "29058301", "url": "https://glygen.org/publication/PubMed/29058301" } ] }, { "title": "O-GlcNAc Transferase Recognizes Protein Substrates Using an Asparagine Ladder in the Tetratricopeptide Repeat (TPR) Superhelix.", "journal": "Journal of the American Chemical Society", "date": "2018", "authors": "Levine ZG, Fan C, Melicher MS, Orman M, Benjamin T, Walker S", "evidence": [ { "database": "O-GlcNAc Database", "id": "O15481", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O15481" } ], "reference": [ { "type": "PubMed", "id": "29485866", "url": "https://glygen.org/publication/PubMed/29485866" } ] }, { "title": "A triarylphosphine-trimethylpiperidine reagent for the one-step derivatization and enrichment of protein post-translational modifications and identification by mass spectrometry.", "journal": "Chemical communications (Cambridge, England)", "date": "2018", "authors": "Huo B, Zhang W, Zhao X, Dong H, Yu Y, Wang J, Qian X, Qin W", "evidence": [ { "database": "O-GlcNAc Database", "id": "O15481", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O15481" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "title": "Two members of the human MAGEB gene family located in Xp21.3 are expressed in tumors of various histological origins.", "journal": "Genomics", "date": "1997", "authors": "Lurquin C, De Smet C, Brasseur F, Muscatelli F, Martelange V, De Plaen E, Brasseur R, Monaco A P, Boon T", "evidence": [ { "database": "UniProtKB", "id": "O15481", "url": "https://www.uniprot.org/uniprot/O15481" } ], "reference": [ { "type": "PubMed", "id": "9441743", "url": "https://glygen.org/publication/PubMed/9441743" } ] } ], "pathway": [ { "id": "hsa:4115", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:4115", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "A0A8I6AAL9-1", "protein_name": "MAGE family member B2", "gene_name": "Mageb2", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MPRGHKSKARAREKRRQVQDEAQGLKNAQAKAAEKGESSSCSDHDSGDAVASTSTAGFPQSKALTTSTAGFPQKSKSQGQAPTTTVRKVGPYRRSRKSTKGPREESTSCTRVPSFIENPQNDLLTRKTGILMQYLLCKYKMKQPANKGEMLKVINKRFKEQLPDILKKASERIQLVFGLEVKEIKPNGGYYTLVSKLDPNVGGTLTTSLPFPQNGLLMPLLGVIFLNGNRASEADIWEFLNILGIHDGKVHIIFGEPRKLITRDLVKEKYLVYQKEANSNPPSFEFLWGPRAYAETTKMKVLEFLAKVNETVPQAFPTHYQEALRDQEERAQAEAVGSPGTSAKDEAESKVRPVNSSCKDDAESKVRPVNSSCKDDAESKVRPVNSSCKDEAQSKVRPVNSSCKDEAQSKVRPVDSSHKGEAQSKVKLVDSSSKDKAKSKAKHVDASSKDKAKSKAKHVDASCKDKAKSK", "length": 470 }, "evidence": [ { "id": "O15481", "url": "https://omabrowser.org/oma/group/O15481/", "database": "OMA" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "A2A9R3-1", "protein_name": "Melanoma-associated antigen B4", "gene_name": "Mageb4", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MPRGQKSKARAREKRRLVQDEAQELQDAQAKAGEKGKSPSCSNQDSGDAVASTSTAGFPQKSKSQGEAPTTTARKGGACRRSRKSTRGPREESTSCTRVPRFSENPQNDLLTRKTGMLMQYLLCKYKMKQPASKGEMLKVINRRFKEQLPEILKKASERIQLVFGLEVKEIKPNGGYYTLVSKLDPSVGNALTTSLPFPQNGLLMPLLGVIFLNGNRASEAEIWEFLNVLGIYDGKVHIIFGEPRKLITRDLVKEKYLVYQKEANSDPPSFEFLWGPRAYAETTKMKILEFLAEVNETVPQAFPTHYEEALRDQEERAQAEAVGSPGTSAKDKAEAKVTLVDSSCKYQAESKVTLVDSSCKDQAESKVTLVDPSCKDNAKSKVTLGSSRKYKAKSKVPLVDSSCKDQAESKVTLVDSCKDQAESKVTLVDSSCKDQAESKVTLVDSSCKDQAESKVTLVDPSCKDKAKSKVTLGSSHKYKAKSKVTLVDSSCKDQAESKVTLVDSSCKDQAESKVTLVDPSCKDNAKSKVTLGSSRKYKAKSKVPLVDSSGKDKAV", "length": 556 }, "evidence": [ { "id": "45918590", "url": "http://www.informatics.jax.org/homology/45918590", "database": "MGI" }, { "id": "O15481", "url": "https://omabrowser.org/oma/group/O15481/", "database": "OMA" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "O15479-1", "protein_name": "Melanoma-associated antigen B2", "gene_name": "MAGEB2", "tax_id": 9606, "organism": "Homo sapiens", "sequence": { "sequence": "MPRGQKSKLRAREKRRKARDETRGLNVPQVTEAEEEEAPCCSSSVSGGAASSSPAAGIPQEPQRAPTTAAAAAAGVSSTKSKKGAKSHQGEKNASSSQASTSTKSPSEDPLTRKSGSLVQFLLYKYKIKKSVTKGEMLKIVGKRFREHFPEILKKASEGLSVVFGLELNKVNPNGHTYTFIDKVDLTDEESLLSSWDFPRRKLLMPLLGVIFLNGNSATEEEIWEFLNMLGVYDGEEHSVFGEPWKLITKDLVQEKYLEYKQVPSSDPPRFQFLWGPRAYAETSKMKVLEFLAKVNGTTPCAFPTHYEEALKDEEKAGV", "length": 319 }, "evidence": [ { "id": "45918590", "url": "http://www.informatics.jax.org/homology/45918590", "database": "MGI" } ], "common_name": "Human" }, { "uniprot_canonical_ac": "P43366-1", "protein_name": "Melanoma-associated antigen B1", "gene_name": "MAGEB1", "tax_id": 9606, "organism": "Homo sapiens", "sequence": { "sequence": "MPRGQKSKLRAREKRRKAREETQGLKVAHATAAEKEECPSSSPVLGDTPTSSPAAGIPQKPQGAPPTTTAAAAVSCTESDEGAKCQGEENASFSQATTSTESSVKDPVAWEAGMLMHFILRKYKMREPIMKADMLKVVDEKYKDHFTEILNGASRRLELVFGLDLKEDNPSGHTYTLVSKLNLTNDGNLSNDWDFPRNGLLMPLLGVIFLKGNSATEEEIWKFMNVLGAYDGEEHLIYGEPRKFITQDLVQEKYLKYEQVPNSDPPRYQFLWGPRAYAETTKMKVLEFLAKMNGATPRDFPSHYEEALRDEEERAQVRSSVRARRRTTATTFRARSRAPFSRSSHPM", "length": 347 }, "evidence": [ { "id": "45918590", "url": "http://www.informatics.jax.org/homology/45918590", "database": "MGI" } ], "common_name": "Human" } ], "go_annotation": { "categories": [ { "name": "Biological Process", "total": 1, "go_terms": [ { "name": "negative regulation of transcription by RNA polymerase II", "id": "GO:0000122", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000122", "evidence": [ { "database": "UniProtKB", "id": "O15481", "url": "https://www.uniprot.org/uniprot/O15481" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 2, "go_terms": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "O15481", "url": "https://www.uniprot.org/uniprot/O15481" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "O15481", "url": "https://www.uniprot.org/uniprot/O15481" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 188, "end_pos": 190, "annotation": "n_glycosylation_sequon" }, { "start_pos": 293, "end_pos": 295, "annotation": "n_glycosylation_sequon" }, { "start_pos": 91, "end_pos": 93, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "homologset.oma", "label": "OMA Homologs" }, { "name": "homologset.mgi", "label": "MGI Homologs" } ], "sequence_features": { "n_linked_sites": [], "o_linked_sites": [], "snv_sites": [ 15 ], "glycation_sites": [], "phosphorylation_sites": [], "sequon_annotation_sites": [ { "start_pos": 188, "end_pos": 190 }, { "start_pos": 293, "end_pos": 295 }, { "start_pos": 91, "end_pos": 93 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment" ] }, { "table_id": "glycosylation_reported", "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_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment" ] }, { "table_id": "glycosylation_predicted", "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_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 5 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }