{ "uniprot_canonical_ac": "P02686-1", "uniprot_ac": "P02686", "uniprot_id": "MBP_HUMAN", "mass": { "chemical_mass": 33117.0, "monoisotopic_mass": 33117.0 }, "refseq": { "ac": "NP_001020252", "name": "myelin basic protein isoform 1", "summary": "The protein encoded by the classic MBP gene is a major constituent of the myelin sheath of oligodendrocytes and Schwann cells in the nervous system. However, MBP-related transcripts are also present in the bone marrow and the immune system. These mRNAs arise from the long MBP gene (otherwise called 'Golli-MBP') that contains 3 additional exons located upstream of the classic MBP exons. Alternative splicing from the Golli and the MBP transcription start sites gives rise to 2 sets of MBP-related transcripts and gene products. The Golli mRNAs contain 3 exons unique to Golli-MBP, spliced in-frame to 1 or more MBP exons. They encode hybrid proteins that have N-terminal Golli aa sequence linked to MBP aa sequence. The second family of transcripts contain only MBP exons and produce the well characterized myelin basic proteins. This complex gene structure is conserved among species suggesting that the MBP transcription unit is an integral part of the Golli transcription unit and that this arrangement is important for the function and/or regulation of these genes. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001020252" }, "gene_names": [ { "name": "MBP", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P02686", "id": "P02686" }, { "name": "MBP", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001020252", "id": "NP_001020252" } ], "protein_names": [ { "name": "Myelin basic protein", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P02686" }, { "name": "Golli-MBP; myelin A1 protein; myelin membrane encephalitogenic protein", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001020252", "id": "NP_001020252" }, { "name": "MBP", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P02686" }, { "name": "Myelin A1 protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P02686" }, { "name": "Myelin membrane encephalitogenic protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P02686" }, { "name": "myelin basic protein isoform 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001020252", "id": "NP_001020252" } ], "function": [ { "annotation": "Citrullination of myelin basic protein induces a Th17-cell response in healthy individuals and enhances the presentation of MBP85-99 in patients with multiple sclerosis.", "evidence": [ { "database": "RefSeq", "id": "NP_001020252", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001020252" }, { "database": "PubMed", "id": "37506490", "url": "https://glygen.org/publication/PubMed/37506490" } ] }, { "annotation": "Investigation of the relationship between MBP gene polymorphisms and delayed encephalopathy after acute carbon monoxide poisoning.", "evidence": [ { "database": "RefSeq", "id": "NP_001020252", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001020252" }, { "database": "PubMed", "id": "36481359", "url": "https://glygen.org/publication/PubMed/36481359" } ] }, { "annotation": "Multiple Sclerosis: Enzymatic Cross Site-Specific Hydrolysis of H1 Histone by IgGs against H1, H2A, H2B, H3, H4 Histones, and Myelin Basic Protein. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001020252", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001020252" }, { "database": "PubMed", "id": "34439806", "url": "https://glygen.org/publication/PubMed/34439806" } ] }, { "annotation": "Multiple sclerosis and myelin basic protein: insights into protein disorder and disease. Review article", "evidence": [ { "database": "RefSeq", "id": "NP_001020252", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001020252" }, { "database": "PubMed", "id": "34889995", "url": "https://glygen.org/publication/PubMed/34889995" } ] }, { "annotation": "The classic group of MBP isoforms (isoform 4-isoform 14) are with PLP the most abundant protein components of the myelin membrane in the CNS. They have a role in both its formation and stabilization. The smaller isoforms might have an important role in remyelination of denuded axons in multiple sclerosis. The non-classic group of MBP isoforms (isoform 1-isoform 3/Golli-MBPs) may preferentially have a role in the early developing brain long before myelination, maybe as components of transcriptional complexes, and may also be involved in signaling pathways in T-cells and neural cells. Differential splicing events combined with optional post-translational modifications give a wide spectrum of isomers, with each of them potentially having a specialized function. Induces T-cell proliferation.", "evidence": [ { "database": "UniProtKB", "id": "P02686", "url": "https://www.uniprot.org/uniprot/P02686#function" }, { "database": "PubMed", "id": "8544862", "url": "https://glygen.org/publication/PubMed/8544862" } ] }, { "annotation": "The protein encoded by the classic MBP gene is a major constituent of the myelin sheath of oligodendrocytes and Schwann cells in the nervous system. However, MBP-related transcripts are also present in the bone marrow and the immune system. These mRNAs arise from the long MBP gene (otherwise called 'Golli-MBP') that contains 3 additional exons located upstream of the classic MBP exons. Alternative splicing from the Golli and the MBP transcription start sites gives rise to 2 sets of MBP-related transcripts and gene products. The Golli mRNAs contain 3 exons unique to Golli-MBP, spliced in-frame to 1 or more MBP exons. They encode hybrid proteins that have N-terminal Golli aa sequence linked to MBP aa sequence. The second family of transcripts contain only MBP exons and produce the well characterized myelin basic proteins. This complex gene structure is conserved among species suggesting that the MBP transcription unit is an integral part of the Golli transcription unit and that this arrangement is important for the function and/or regulation of these genes. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_001020252", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001020252" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs375853029", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs375853029" }, { "id": "rs375853029", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs375853029" }, { "id": "rs375853029", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs375853029#frequency_tab" }, { "id": "rs375853029", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs375853029" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 104, "end_pos": 104, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DNT->NNT).", "chr_id": "18", "chr_pos": "77017098", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D104", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs149191307", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs149191307" }, { "id": "rs149191307", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs149191307" }, { "id": "rs149191307", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs149191307" }, { "id": "rs149191307", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs149191307#frequency_tab" }, { "id": "rs149191307", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs149191307" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 5, "end_pos": 5, "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NHA->NHS).", "chr_id": "18", "chr_pos": "77105249", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.0002", "site_lbl": "A5", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P02686", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P02686" }, { "id": "rs149191307", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs149191307" }, { "id": "rs149191307", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs149191307" }, { "id": "rs149191307", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs149191307" }, { "id": "rs149191307", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs149191307#frequency_tab" }, { "id": "rs149191307", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs149191307" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 5, "end_pos": 5, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (NHA->NHT).", "chr_id": "18", "chr_pos": "77105249", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A5", "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 of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs1216909565", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1216909565" }, { "id": "rs1216909565", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1216909565" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 68, "end_pos": 68, "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (KRT->NRT).", "chr_id": "18", "chr_pos": "77017204", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K68", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "84.4", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000197971", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000197971" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "88.13", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000197971", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000197971" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "89.46", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000197971", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000197971" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "73.39", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000197971", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000197971" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "88.94", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000197971", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000197971" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "88.99", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000197971", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000197971" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "82.19", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000197971", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000197971" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "86.56", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000197971", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000197971" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "91.2", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000197971", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000197971" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "95.01", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000197971", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000197971" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "89.55", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000197971", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000197971" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "86.58", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000197971", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000197971" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "85.96", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000197971", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000197971" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P02686", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P02686" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "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": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", 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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": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "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, 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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": "P02686", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P02686" } ], "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 of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "No", "trend": "down", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "P02686", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P02686" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": 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"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 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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": "P02686", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P02686" } ], "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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"name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P02686", "url": "https://www.uniprot.org/uniprot/P02686" } ], "common_name": "Human" } ], "gene": [ { "name": "MBP", "url": "https://www.uniprot.org/uniprot/P02686", "locus": { "chromosome": "18", "start_pos": 76978827, "end_pos": 77133683, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000197971", "url": "https://www.ensembl.org/id/ENSG00000197971" } ] } } ], "crossref": [ { "id": "ENSG00000197971", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000197971", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "P02686", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P02686", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "MBP", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=MBP", "database": "GeneCards", "categories": [ "Gene 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"https://www.uniprot.org/uniprot/H7BYR8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7BYR8-1", "url": "https://www.uniprot.org/uniprot/H7BYR8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "J3KS94", "url": "https://www.uniprot.org/uniprot/J3KS94", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "J3KS94-1", "url": "https://www.uniprot.org/uniprot/J3KS94-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "J3KT01", "url": "https://www.uniprot.org/uniprot/J3KT01", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "J3KT01-1", "url": "https://www.uniprot.org/uniprot/J3KT01-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "J3KT34", "url": "https://www.uniprot.org/uniprot/J3KT34", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "J3KT34-1", "url": "https://www.uniprot.org/uniprot/J3KT34-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "J3QKL5", "url": "https://www.uniprot.org/uniprot/J3QKL5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "J3QKL5-1", "url": "https://www.uniprot.org/uniprot/J3QKL5-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "J3QKN5", "url": "https://www.uniprot.org/uniprot/J3QKN5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "J3QKN5-1", "url": "https://www.uniprot.org/uniprot/J3QKN5-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "J3QL64", "url": "https://www.uniprot.org/uniprot/J3QL64", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "J3QL64-1", "url": "https://www.uniprot.org/uniprot/J3QL64-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "J3QQK6", "url": "https://www.uniprot.org/uniprot/J3QQK6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "J3QQK6-1", "url": "https://www.uniprot.org/uniprot/J3QQK6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P02686", "url": "https://www.uniprot.org/uniprot/P02686", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P02686-1", "url": "https://www.uniprot.org/uniprot/P02686-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P02686-2", "url": "https://www.uniprot.org/uniprot/P02686-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P02686-3", "url": "https://www.uniprot.org/uniprot/P02686-3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P02686-4", "url": "https://www.uniprot.org/uniprot/P02686-4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P02686-5", "url": "https://www.uniprot.org/uniprot/P02686-5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P02686-6", "url": "https://www.uniprot.org/uniprot/P02686-6", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MGNHAGKRELNAEKASTNSETNRGESEKKRNLGELSRTTSEDNEVFGEADANQNNGTSSQDTAVTDSKRTADPKNAWQDAHPADPGSRPHLIRLFSRDAPGREDNTFKDRPSESDELQTIQEDSAATSESLDVMASQKRPSQRHGSKYLATASTMDHARHGFLPRHRDTGILDSIGRFFGGDRGAPKRGSGKDSHHPARTAHYGSLPQKSHGRTQDENPVVHFFKNIVTPRTPPPSQGKGRGLSLSRFSWGAEGQRPGFGYGGRASDYKSAHKGFKGVDAQGTLSKIFKLGGRDSRSGSPMARR", "length": 304, "header": "sp|P02686-1|MBP_HUMAN Isoform 1 of Myelin basic protein OS=Homo sapiens OX=9606 GN=MBP PE=1 SV=3 CANONICAL=P02686-1" }, "isoforms": [ { "isoform_ac": "A8MZH3-1", "url": "", "sequence": { "sequence": "MASQKRPSQRHGSKYLATASTMDHARHGFLPRHRDTGILDSIGRFFGGDRGAPKRGSGKDSHHPARTAHYGSLPQKSHGRTQDENPVVHFFKNICSPRFSVSFQVTPRTPPPSQGKGRGLSLSRFSWGAEGQRPGFGYGGRASDYKSAHKGFKGVDAQGTLSKIFKLGGRDSRSGSPMARR", "length": 181, "header": "tr|A8MZH3-1|A8MZH3_HUMAN Computationally mapped isoform of Myelin basic protein OS=Homo sapiens OX=9606 GN=MBP PE=1 SV=1 CANONICAL=P02686-1" }, "locus": { "chromosome": "18", "start_pos": 77017008, "end_pos": 76980430, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000397875.7", "url": "https://www.ensembl.org/id/ENST00000397875.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000380973.3", "url": "https://www.ensembl.org/id/ENSP00000380973.3" } ] } }, { "isoform_ac": "C9J6H1-1", "url": "", "sequence": { "sequence": "MYKDSHHPARTAHYGSLPQKSHGRTQDENPVVHFFKNIVTPRTPPPSQGKGRGLSLSRFSWGAEGQRPGFGYGGRASDYKSAHKGFKGVDAQGTLSKIFKL", "length": 101, "header": "tr|C9J6H1-1|C9J6H1_HUMAN Computationally mapped isoform of Myelin basic protein OS=Homo sapiens OX=9606 GN=MBP PE=1 SV=1 CANONICAL=P02686-1" }, "locus": { "chromosome": "18", "start_pos": 77009857, "end_pos": 76984775, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000447114.5", "url": "https://www.ensembl.org/id/ENST00000447114.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000405882.1", "url": "https://www.ensembl.org/id/ENSP00000405882.1" } ] } }, { "isoform_ac": "E9PJ72-1", "url": "", "sequence": { "sequence": "MASQKRPSQRHRDTGILDSIGRFFGGDRGAPKRGSGKDSHHPARTAHYGSLPQKSHGRTQDENPVVHFFKNIVTPRTPPPSQGKGRGLSLSRFSWGAEGQRPGFGYGGRASDYKSAHKGFKGVDAQGTLSKIFKLGGRDSRSGSPMARR", "length": 149, "header": "tr|E9PJ72-1|E9PJ72_HUMAN Computationally mapped isoform of Myelin basic protein OS=Homo sapiens OX=9606 GN=MBP PE=1 SV=1 CANONICAL=P02686-1" }, "locus": { "chromosome": "18", "start_pos": 77017008, "end_pos": 76980430, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000526111.5", "url": "https://www.ensembl.org/id/ENST00000526111.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000435641.1", "url": "https://www.ensembl.org/id/ENSP00000435641.1" } ] } }, { "isoform_ac": "E9PKX9-1", "url": "", "sequence": { "sequence": "MASQKRPSQRHGSKYLATASTMDHARHGFLPRHRDTGILDSIGRFFGGDRGAPKRGSGKDSHHPARTAHYGSLPQKHTAAETERTWAAERTVDIQASFVFFSCPSLTS", "length": 108, "header": "tr|E9PKX9-1|MBP_HUMAN Computationally mapped isoform of Myelin basic protein OS=Homo sapiens OX=9606 GN=MBP PE=1 SV=1 CANONICAL=P02686-1" }, "locus": { "chromosome": "18", "start_pos": 77017008, "end_pos": 76979942, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000527041.1", "url": "https://www.ensembl.org/id/ENST00000527041.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000435243.1", "url": "https://www.ensembl.org/id/ENSP00000435243.1" } ] } }, { "isoform_ac": "E9PLQ9-1", "url": "", "sequence": { "sequence": "MASQKRPSQRHGSKYLATASTMDHARHGFLPRTHTTRQELLTTAPCPRSHTAGPKMKTP", "length": 59, "header": "tr|E9PLQ9-1|MBP_HUMAN Computationally mapped isoform of Myelin basic protein OS=Homo sapiens OX=9606 GN=MBP PE=1 SV=1 CANONICAL=P02686-1" }, "locus": { "chromosome": "18", "start_pos": 77017008, "end_pos": 76989979, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000583474.5", "url": "https://www.ensembl.org/id/ENST00000583474.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000462758.1", "url": "https://www.ensembl.org/id/ENSP00000462758.1" } ] } }, { "isoform_ac": "E9PLU9-1", "url": "", "sequence": { "sequence": "MASQKRPSQRHGSKYLATASTMDHARHGFLPR", "length": 32, "header": "tr|E9PLU9-1|E9PLU9_HUMAN Computationally mapped isoform of Myelin basic protein OS=Homo sapiens OX=9606 GN=MBP PE=1 SV=1 CANONICAL=P02686-1" }, "locus": { "chromosome": "18", "start_pos": 77017008, "end_pos": 76989990, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000527975.5", "url": "https://www.ensembl.org/id/ENST00000527975.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000431267.1", "url": "https://www.ensembl.org/id/ENSP00000431267.1" } ] } }, { "isoform_ac": "E9PMR5-1", "url": "", "sequence": { "sequence": "MASQKRPSQRHGSKYLATASTMDHARHGFLPRHRDTGILDSIGRFFGGDRGAPKRGSGKDSHHPARTAHYGSLPQKSHGRTQDENPVVHFFKNIAGAR", "length": 98, "header": "tr|E9PMR5-1|E9PMR5_HUMAN Computationally mapped isoform of Myelin basic protein OS=Homo sapiens OX=9606 GN=MBP PE=1 SV=2 CANONICAL=P02686-1" }, "locus": { "chromosome": "18", "start_pos": 77017008, "end_pos": 76988974, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000473302.5", "url": "https://www.ensembl.org/id/ENST00000473302.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000432988.1", "url": "https://www.ensembl.org/id/ENSP00000432988.1" } ] } }, { "isoform_ac": "E9PNZ1-1", "url": "", "sequence": { "sequence": "MASQKRPSQRHGSKYLATASTMDHARHGFLPRHRDTGILDSIGRFFGGDRGAPKRGSGKDSHHPARTAHYGSLPQKSHGRTQDENP", "length": 86, "header": "tr|E9PNZ1-1|MBP_HUMAN Computationally mapped isoform of Myelin basic protein OS=Homo sapiens OX=9606 GN=MBP PE=1 SV=1 CANONICAL=P02686-1" }, "locus": { "chromosome": "18", "start_pos": 77017008, "end_pos": 76989980, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000498683.2", "url": "https://www.ensembl.org/id/ENST00000498683.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000437063.1", "url": "https://www.ensembl.org/id/ENSP00000437063.1" } ] } }, { "isoform_ac": "E9PQE7-1", "url": "", "sequence": { "sequence": "MASQKRPSQRHGSKYLATASTMDHARHGFLPRARFPKFLSWEEEIVALDHPWLDAENPPGSGILSSAS", "length": 68, "header": "tr|E9PQE7-1|E9PQE7_HUMAN Computationally mapped isoform of Myelin basic protein OS=Homo sapiens OX=9606 GN=MBP PE=1 SV=1 CANONICAL=P02686-1" }, "locus": { "chromosome": "18", "start_pos": 77017008, "end_pos": 76980390, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000528160.1", "url": "https://www.ensembl.org/id/ENST00000528160.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000436830.1", "url": "https://www.ensembl.org/id/ENSP00000436830.1" } ] } }, { "isoform_ac": "E9PSE2-1", "url": "", "sequence": { "sequence": "MASQKRPSQRHGSKYLATASTMDHARHGFLPSGALARTHTTRQELLTTAPCPRSHTAGPKMKTP", "length": 64, "header": "tr|E9PSE2-1|E9PSE2_HUMAN Computationally mapped isoform of Myelin basic protein OS=Homo sapiens OX=9606 GN=MBP PE=1 SV=1 CANONICAL=P02686-1" }, "locus": { "chromosome": "18", "start_pos": 77017008, "end_pos": 76989979, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000533278.5", "url": "https://www.ensembl.org/id/ENST00000533278.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000434011.1", "url": "https://www.ensembl.org/id/ENSP00000434011.1" } ] } }, { "isoform_ac": "F5H7N4-1", "url": "", "sequence": { "sequence": "MASQKRPSQRHGSKYLATASTMDHARHGFLPRHRDTGILDSIGRFFGGDRGAPKRGSGKESRTLSR", "length": 66, "header": "tr|F5H7N4-1|F5H7N4_HUMAN Computationally mapped isoform of Myelin basic protein OS=Homo sapiens OX=9606 GN=MBP PE=1 SV=1 CANONICAL=P02686-1" }, "locus": { "chromosome": "18", "start_pos": 77017008, "end_pos": 76990894, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000483025.5", "url": "https://www.ensembl.org/id/ENST00000483025.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000442393.1", "url": "https://www.ensembl.org/id/ENSP00000442393.1" } ] } }, { "isoform_ac": "F8WEU6-1", "url": "", "sequence": { "sequence": "MASQKRPSQRHGSKYLATASTMDHARHGFLPRHRDTGILDSIGRFFGGDRGAPKRGSGKGGRDSRSGSPMARR", "length": 73, "header": "tr|F8WEU6-1|F8WEU6_HUMAN Computationally mapped isoform of Myelin basic protein OS=Homo sapiens OX=9606 GN=MBP PE=1 SV=1 CANONICAL=P02686-1" }, "locus": { "chromosome": "18", "start_pos": 77017008, "end_pos": 76980430, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000354542.4", "url": "https://www.ensembl.org/id/ENST00000354542.4" }, { "database": "Ensembl Peptide", "id": "ENSP00000346545.4", "url": "https://www.ensembl.org/id/ENSP00000346545.4" } ] } }, { "isoform_ac": "H0YEA2-1", "url": "", "sequence": { "sequence": "MASQKRPSQRHGSKYLATASTMDHARHGFLPRHRDTGILDSIGRFFGGDRGAPKRGSGKDSHHPARTAHYGSLPQKSHGRTQDENPVVHFFKNIVYTSSPTRTEVGRLGTRVLLAADGC", "length": 119, "header": "tr|H0YEA2-1|H0YEA2_HUMAN Computationally mapped isoform of Myelin basic protein OS=Homo sapiens OX=9606 GN=MBP PE=1 SV=2 CANONICAL=P02686-1" }, "locus": { "chromosome": "18", "start_pos": 77017008, "end_pos": 76989002, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000459948.1", "url": "https://www.ensembl.org/id/ENST00000459948.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000435322.1", "url": "https://www.ensembl.org/id/ENSP00000435322.1" } ] } }, { "isoform_ac": "H0YF02-1", "url": "", "sequence": { "sequence": "MASQKRPSQRHGSKYLATASTMDHARHGFLPRHRDTGILDSIGRFFGGDRGAPKRGSGKDSHHPARTAHYGSLPQKSHGRTQDENPVVHFFKNIDRSGEAGHPGASGS", "length": 108, "header": "tr|H0YF02-1|MBP_HUMAN Computationally mapped isoform of Myelin basic protein OS=Homo sapiens OX=9606 GN=MBP PE=1 SV=2 CANONICAL=P02686-1" }, "locus": { "chromosome": "18", "start_pos": 77017008, "end_pos": 76989012, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000493623.5", "url": "https://www.ensembl.org/id/ENST00000493623.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000436951.1", "url": "https://www.ensembl.org/id/ENSP00000436951.1" } ] } }, { "isoform_ac": "H7BYR8-1", "url": "", "sequence": { "sequence": "MASQKRPSQRHGSKYLATASTMDHARHGFLPRHRDTGILDSIGRFFGGDRGAPKRGSGKDSHHPARTAHYGSLPQKSHGRTQDENPVVHFFKNIVTPRTPPPSQGKGRGLSLSRFSWVGDERTSIGFLFRPSPHSPATFVFCSVSVASWPPFLSSRDLSAHSWDRAALSSTGEMKRGLPFRKGAEGQRPGFGYGGRASDYKSAHKGFKGVDAQGTLSKIFKLGGRDSRSGSPMARR", "length": 236, "header": "tr|H7BYR8-1|MBP_HUMAN Computationally mapped isoform of Myelin basic protein OS=Homo sapiens OX=9606 GN=MBP PE=1 SV=1 CANONICAL=P02686-1" }, "locus": { "chromosome": "18", "start_pos": 77017008, "end_pos": 76980430, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000397869.7", "url": "https://www.ensembl.org/id/ENST00000397869.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000380967.3", "url": "https://www.ensembl.org/id/ENSP00000380967.3" } ] } }, { "isoform_ac": "J3KS94-1", "url": "", "sequence": { "sequence": "MGNHAGKRELNAEKASTNSETNRGESEKKRNLGELSRTTSEDNEVFGEADANQNNGTSSQDTAVTDSKRTADPKNAWQDAHPADPGSRPHLIRLFSRDAPGREDNTFKDRPSESDELQTIQEDSAATSESLDVMASQKRPSQRHGSKYLATASTMDHAR", "length": 159, "header": "tr|J3KS94-1|MBP_HUMAN Computationally mapped isoform of Myelin basic protein OS=Homo sapiens OX=9606 GN=MBP PE=1 SV=1 CANONICAL=P02686-1" }, "locus": { "chromosome": "18", "start_pos": 77105261, "end_pos": 77016931, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000581878.5", "url": "https://www.ensembl.org/id/ENST00000581878.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000462374.1", "url": "https://www.ensembl.org/id/ENSP00000462374.1" } ] } }, { "isoform_ac": "J3KT01-1", "url": "", "sequence": { "sequence": "XLPQKSHGRTQDENPVVHFFKNIVTPRTPPPSQGKGRGLSLSRFSWVGDERTSIGFLFRPSPHSPATFVFCSVSVASWPPFLSSRDLSAHSWDRAALSSTGEMKRGLPFRKVWSLASVPGTQPCKARSSSPRGFPGDVTGLPPREGATPRPRKCLTSSNTTSARSPRNPHVEVGLAGPSQ", "length": 180, "header": "tr|J3KT01-1|J3KT01_HUMAN Computationally mapped isoform of Myelin basic protein OS=Homo sapiens OX=9606 GN=MBP PE=1 SV=1 CANONICAL=P02686-1" }, "locus": { "chromosome": "18", "start_pos": 76990023, "end_pos": 76988092, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000585201.5", "url": "https://www.ensembl.org/id/ENST00000585201.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000462734.1", "url": "https://www.ensembl.org/id/ENSP00000462734.1" } ] } }, { "isoform_ac": "J3KT34-1", "url": "", "sequence": { "sequence": "XQKRPSQRHGSKYLATASTMDHARHGFLPRHRDTGILDSIGRFFGGDRGAPKRGSGKDCP", "length": 60, "header": "tr|J3KT34-1|J3KT34_HUMAN Computationally mapped isoform of Myelin basic protein OS=Homo sapiens OX=9606 GN=MBP PE=1 SV=1 CANONICAL=P02686-1" }, "locus": { "chromosome": "18", "start_pos": 77017000, "end_pos": 76988510, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000577755.5", "url": "https://www.ensembl.org/id/ENST00000577755.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000462780.1", "url": "https://www.ensembl.org/id/ENSP00000462780.1" } ] } }, { "isoform_ac": "J3QKL5-1", "url": "", "sequence": { "sequence": "MASQKRPSQRHGSKYLATASTMDHARHGFLPRHRDTGILDSIGRFFGGDRGAPKRGSGKVPWLKPGRSPLPSHARSQPGLCNMYKDSHHPARTAHYGSLPQKSHGRTQDENPVVHFFKNIVTPRTPPPSQGKGRGLSLSRFSWVGDERTSIGFLFRPSPHSPATFVFCSVS", "length": 171, "header": "tr|J3QKL5-1|MBP_HUMAN Computationally mapped isoform of Myelin basic protein OS=Homo sapiens OX=9606 GN=MBP PE=1 SV=1 CANONICAL=P02686-1" }, "locus": { "chromosome": "18", "start_pos": 77017008, "end_pos": 76988411, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000578873.5", "url": "https://www.ensembl.org/id/ENST00000578873.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000463137.1", "url": "https://www.ensembl.org/id/ENSP00000463137.1" } ] } }, { "isoform_ac": "J3QKN5-1", "url": "", "sequence": { "sequence": "MGNHAGKRELNAEKASTNSETNRGESEKKRNLGELSRTTSE", "length": 41, "header": "tr|J3QKN5-1|J3QKN5_HUMAN Computationally mapped isoform of Myelin basic protein OS=Homo sapiens OX=9606 GN=MBP PE=1 SV=1 CANONICAL=P02686-1" }, "locus": { "chromosome": "18", "start_pos": 77105261, "end_pos": 77066314, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000583798.1", "url": "https://www.ensembl.org/id/ENST00000583798.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000463164.1", "url": "https://www.ensembl.org/id/ENSP00000463164.1" } ] } }, { "isoform_ac": "J3QL64-1", "url": "", "sequence": { "sequence": "MASQKRPSQRHGSKYLATASTMDHARHGFLPRHRDTGILDSIGRFFGGDRGAPKRGSGKDSHHPARTAHYGSLPQKSHGRTQDENPVVHFFKNIVTPRTPPPSQGKGRGLSLSRFSWGAEGQRPGFGYGGRASDYKSAHKGFKGVDAQGTLSKIFKL", "length": 157, "header": "tr|J3QL64-1|MBP_HUMAN Computationally mapped isoform of Myelin basic protein OS=Homo sapiens OX=9606 GN=MBP PE=1 SV=1 CANONICAL=P02686-1" }, "locus": { "chromosome": "18", "start_pos": 77017008, "end_pos": 76984775, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000578193.5", "url": "https://www.ensembl.org/id/ENST00000578193.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000463403.1", "url": "https://www.ensembl.org/id/ENSP00000463403.1" } ] } }, { "isoform_ac": "J3QQK6-1", "url": "", "sequence": { "sequence": "MGNHAGKRELNAEKASTNSETNRGESEKKRNLGELSRTTSEDNEVFGEADANQNNGTSSQDTAVTDSKRTADPKNAWQDAHPADPGSRPHLIRLFSRDAPGREDNTFKDRPSESDELQTIQEDSAATSESLDVMASQKRPSQRHGSKYLATASTMDHARHGFLPRHRDTGILDSIGRFFGGDRGAPKRGSGKDSHHPARTAHYGSLPQKSHGRTQDENPVVHFFKNIVTPRTPPPSQGKGGRDSRSGSPMARR", "length": 253, "header": "tr|J3QQK6-1|MBP_HUMAN Computationally mapped isoform of Myelin basic protein OS=Homo sapiens OX=9606 GN=MBP PE=1 SV=1 CANONICAL=P02686-1" }, "locus": { "chromosome": "18", "start_pos": 77105261, "end_pos": 76980430, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000579129.5", "url": "https://www.ensembl.org/id/ENST00000579129.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000463780.1", "url": "https://www.ensembl.org/id/ENSP00000463780.1" } ] } }, { "isoform_ac": "P02686-1", "url": "", "sequence": { "sequence": "MGNHAGKRELNAEKASTNSETNRGESEKKRNLGELSRTTSEDNEVFGEADANQNNGTSSQDTAVTDSKRTADPKNAWQDAHPADPGSRPHLIRLFSRDAPGREDNTFKDRPSESDELQTIQEDSAATSESLDVMASQKRPSQRHGSKYLATASTMDHARHGFLPRHRDTGILDSIGRFFGGDRGAPKRGSGKDSHHPARTAHYGSLPQKSHGRTQDENPVVHFFKNIVTPRTPPPSQGKGRGLSLSRFSWGAEGQRPGFGYGGRASDYKSAHKGFKGVDAQGTLSKIFKLGGRDSRSGSPMARR", "length": 304, "header": "sp|P02686-1|MBP_HUMAN Isoform 1 of Myelin basic protein OS=Homo sapiens OX=9606 GN=MBP PE=1 SV=3 CANONICAL=P02686-1" }, "locus": { "chromosome": "18", "start_pos": 77105261, "end_pos": 76980430, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000580402.5", "url": "https://www.ensembl.org/id/ENST00000580402.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000462223.1", "url": "https://www.ensembl.org/id/ENSP00000462223.1" } ] } }, { "isoform_ac": "P02686-2", "url": "", "sequence": { "sequence": "MGNHAGKRELNAEKASTNSETNRGESEKKRNLGELSRTTSEDNEVFGEADANQNNGTSSQDTAVTDSKRTADPKNAWQDAHPADPGSRPHLIRLFSRDAPGREDNTFKDRPSESDELQTIQEDSAATSESLDVMASQKRPSQRHGSKYLATASTMDHARHGFLPRHRDTGILDSIGRFFGGDRGAPKRGSGKVSSEE", "length": 197, "header": "sp|P02686-2|MBP_HUMAN Isoform 2 of Myelin basic protein OS=Homo sapiens OX=9606 GN=MBP PE=1 SV=3 CANONICAL=P02686-1" }, "locus": { "chromosome": "18", "start_pos": 77105261, "end_pos": 77016817, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000397860.7", "url": "https://www.ensembl.org/id/ENST00000397860.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000380958.3", "url": "https://www.ensembl.org/id/ENSP00000380958.3" } ] } }, { "isoform_ac": "P02686-3", "url": "", "sequence": { "sequence": "MASQKRPSQRHGSKYLATASTMDHARHGFLPRHRDTGILDSIGRFFGGDRGAPKRGSGKVPWLKPGRSPLPSHARSQPGLCNMYKDSHHPARTAHYGSLPQKSHGRTQDENPVVHFFKNIVTPRTPPPSQGKGRGLSLSRFSWGAEGQRPGFGYGGRASDYKSAHKGFKGVDAQGTLSKIFKLGGRDSRSGSPMARR", "length": 197, "header": "sp|P02686-3|MBP_HUMAN Isoform 3 of Myelin basic protein OS=Homo sapiens OX=9606 GN=MBP PE=1 SV=3 CANONICAL=P02686-1" }, "locus": { "chromosome": "18", "start_pos": 77017008, "end_pos": 76980430, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000382582.7", "url": "https://www.ensembl.org/id/ENST00000382582.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000372025.3", "url": "https://www.ensembl.org/id/ENSP00000372025.3" } ] } }, { "isoform_ac": "P02686-4", "url": "", "sequence": { "sequence": "MASQKRPSQRHGSKYLATASTMDHARHGFLPRHRDTGILDSIGRFFGGDRGAPKRGSGKVPWLKPGRSPLPSHARSQPGLCNMYKDSHHPARTAHYGSLPQKSHGRTQDENPVVHFFKNIVTPRTPPPSQGKGAEGQRPGFGYGGRASDYKSAHKGFKGVDAQGTLSKIFKLGGRDSRSGSPMARR", "length": 186, "header": "sp|P02686-4|MBP_HUMAN Isoform 4 of Myelin basic protein OS=Homo sapiens OX=9606 GN=MBP PE=1 SV=3 CANONICAL=P02686-1" }, "locus": { "chromosome": "18", "start_pos": 77017008, "end_pos": 76980430, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000359645.7", "url": "https://www.ensembl.org/id/ENST00000359645.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000352667.3", "url": "https://www.ensembl.org/id/ENSP00000352667.3" } ] } }, { "isoform_ac": "P02686-5", "url": "", "sequence": { "sequence": "MASQKRPSQRHGSKYLATASTMDHARHGFLPRHRDTGILDSIGRFFGGDRGAPKRGSGKDSHHPARTAHYGSLPQKSHGRTQDENPVVHFFKNIVTPRTPPPSQGKGRGLSLSRFSWGAEGQRPGFGYGGRASDYKSAHKGFKGVDAQGTLSKIFKLGGRDSRSGSPMARR", "length": 171, "header": "sp|P02686-5|MBP_HUMAN Isoform 5 of Myelin basic protein OS=Homo sapiens OX=9606 GN=MBP PE=1 SV=3 CANONICAL=P02686-1" }, "locus": { "chromosome": "18", "start_pos": 77017008, "end_pos": 76980430, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000397866.8", "url": "https://www.ensembl.org/id/ENST00000397866.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000380964.4", "url": "https://www.ensembl.org/id/ENSP00000380964.4" } ] } }, { "isoform_ac": "P02686-6", "url": "", "sequence": { "sequence": "MASQKRPSQRHGSKYLATASTMDHARHGFLPRHRDTGILDSIGRFFGGDRGAPKRGSGKDSHHPARTAHYGSLPQKSHGRTQDENPVVHFFKNIVTPRTPPPSQGKGAEGQRPGFGYGGRASDYKSAHKGFKGVDAQGTLSKIFKLGGRDSRSGSPMARR", "length": 160, "header": "sp|P02686-6|MBP_HUMAN Isoform 6 of Myelin basic protein OS=Homo sapiens OX=9606 GN=MBP PE=1 SV=3 CANONICAL=P02686-1" }, "locus": { "chromosome": "18", "start_pos": 77017008, "end_pos": 76980430, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000397865.9", "url": "https://www.ensembl.org/id/ENST00000397865.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000380963.5", "url": "https://www.ensembl.org/id/ENSP00000380963.5" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 249, "start_aa": "Ser", "end_pos": 249, "end_aa": "Ser", "residue": "Ser", "site_lbl": 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"https://www.uniprot.org/uniprot/P02686" } ], "site_lbl": "Ser174" }, { "start_pos": 190, "end_pos": 190, "kinase_uniprot_canonical_ac": "P17252-1", "kinase_gene_name": "PRKCA", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P02686", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P02686" }, { "database": "PubMed", "id": "2413024", "url": "https://glygen.org/publication/PubMed/2413024" } ], "site_lbl": "Ser190" }, { "start_pos": 190, "end_pos": 190, "kinase_uniprot_canonical_ac": "P17612-1", "kinase_gene_name": "PRKACA", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P02686", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P02686" }, { "database": "PubMed", "id": "2413024", "url": "https://glygen.org/publication/PubMed/2413024" } ], "site_lbl": "Ser190" }, { "start_pos": 190, "end_pos": 190, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", 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"http://phospho.elm.eu.org/byAccession/P02686.html" }, { "database": "iPTMnet", "id": "P02686", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P02686" }, { "database": "PubMed", "id": "10880969", "url": "https://glygen.org/publication/PubMed/10880969" } ], "site_lbl": "Ser299" }, { "start_pos": 65, "end_pos": 65, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P02686", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P02686" }, { "database": "PubMed", "id": "14517248", "url": "https://glygen.org/publication/PubMed/14517248" } ], "site_lbl": "Thr65" }, { "start_pos": 96, "end_pos": 96, "kinase_uniprot_canonical_ac": "P27361-1", "kinase_gene_name": "MAPK3", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P02686", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P02686" }, { "database": "PubMed", "id": "1699809", "url": 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"The Journal of biological chemistry", "date": "1999", "authors": "Tabor DE, Kim JB, Spiegelman BM, Edwards PA", "evidence": [ { "database": "Reactome", "id": "R-HSA-9619665", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9619665" } ], "reference": [ { "type": "PubMed", "id": "10400691", "url": "https://glygen.org/publication/PubMed/10400691" } ] }, { "title": "PSK, a novel STE20-like kinase derived from prostatic carcinoma that activates the JNK MAPK pathway and regulates actin cytoskeletal organisation.", "journal": "J. 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II. Molecular modeling and considerations of predicted structures in multiple sclerosis.", "journal": "J. Biol. Chem.", "date": "1997", "authors": "Ridsdale R A, Beniac D R, Tompkins T A, Moscarello M A, Harauz G", "evidence": [ { "database": "UniProtKB", "id": "P02686", "url": "https://www.uniprot.org/uniprot/P02686" } ], "reference": [ { "type": "PubMed", "id": "9020143", "url": "https://glygen.org/publication/PubMed/9020143" } ] }, { "title": "Differential regulation of the zinc finger genes Krox-20 and Krox-24 (Egr-1) suggests antagonistic roles in Schwann cells.", "journal": "Journal of neuroscience research", "date": "1997", "authors": "Topilko P, Levi G, Merlo G, Mantero S, Desmarquet C, Mancardi G, Charnay P", "evidence": [ { "database": "Reactome", "id": "R-HSA-9619665", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9619665" } ], "reference": [ { "type": "PubMed", "id": "9418958", "url": "https://glygen.org/publication/PubMed/9418958" } ] }, { "title": "Selective activation of p38 mitogen-activated protein (MAP) kinase isoforms by the MAP kinase kinases MKK3 and MKK6.", "journal": "J. Biol. Chem.", "date": "1998", "authors": "Enslen H, Raingeaud J, Davis RJ", "evidence": [ { "database": "UniProtKB", "id": "P02686", "url": "https://www.uniprot.org/uniprot/P02686" } ], "reference": [ { "type": "PubMed", "id": "9430721", "url": "https://glygen.org/publication/PubMed/9430721" } ] }, { "title": "Regenerating sciatic nerve does not utilize circulating cholesterol.", "journal": "Neurochemical research", "date": "1998", "authors": "Jurevics H, Bouldin TW, Toews AD, Morell P", "evidence": [ { "database": "Reactome", "id": "R-HSA-9619665", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9619665" } ], "reference": [ { "type": "PubMed", "id": "9482253", "url": "https://glygen.org/publication/PubMed/9482253" } ] }, { "title": "Transcriptional activation of the stearoyl-CoA desaturase 2 gene by sterol regulatory element-binding protein/adipocyte determination and differentiation factor 1.", "journal": "The Journal of biological chemistry", "date": "1998", "authors": "Tabor DE, Kim JB, Spiegelman BM, Edwards PA", "evidence": [ { "database": "Reactome", "id": "R-HSA-9619665", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9619665" } ], "reference": [ { "type": "PubMed", "id": "9705348", "url": "https://glygen.org/publication/PubMed/9705348" } ] }, { "title": "Differential stimulation of cholesterol and unsaturated fatty acid biosynthesis in cells expressing individual nuclear sterol regulatory element-binding proteins.", "journal": "The Journal of biological chemistry", "date": "1998", "authors": "Pai JT, Guryev O, Brown MS, Goldstein JL", "evidence": [ { "database": "Reactome", "id": "R-HSA-9619665", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9619665" } ], "reference": [ { "type": "PubMed", "id": "9748295", "url": "https://glygen.org/publication/PubMed/9748295" } ] }, { "title": "Inducible and constitutive transcription factors in the mammalian nervous system: control of gene expression by Jun, Fos and Krox, and CREB/ATF proteins.", "journal": "Brain research. Brain research reviews", "date": "1998", "authors": "Herdegen T, Leah JD", "evidence": [ { "database": "Reactome", "id": "R-HSA-9619665", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9619665" } ], "reference": [ { "type": "PubMed", "id": "9858769", "url": "https://glygen.org/publication/PubMed/9858769" } ] } ], "pathway": [ { "id": "hsa:4155", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:4155", "resource": "KEGG Pathway" }, { "id": "R-HSA-9619665", "name": "EGR2 and SOX10-mediated initiation of Schwann cell myelination", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9619665", "resource": "Reactome", "description": "EGR2 and SOX10-mediated initiation of Schwann cell myelination" } ], "orthologs": [ { "uniprot_canonical_ac": "P02688-1", "protein_name": "Myelin basic protein", "gene_name": "Mbp", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": 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"url": "https://www.uniprot.org/uniprot/P02686" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 11, "go_terms": [ { "name": "myelin sheath", "id": "GO:0043209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043209", "evidence": [ { "database": "UniProtKB", "id": "P02686", "url": "https://www.uniprot.org/uniprot/P02686" } ], "pmid": "" }, { "name": "internode region of axon", "id": "GO:0033269", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033269", "evidence": [ { "database": "UniProtKB", "id": "P02686", "url": "https://www.uniprot.org/uniprot/P02686" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P02686", "url": "https://www.uniprot.org/uniprot/P02686" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P02686", "url": "https://www.uniprot.org/uniprot/P02686" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P02686", "url": "https://www.uniprot.org/uniprot/P02686" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "P02686", "url": "https://www.uniprot.org/uniprot/P02686" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "P02686", "url": "https://www.uniprot.org/uniprot/P02686" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "P02686", "url": "https://www.uniprot.org/uniprot/P02686" } ], "pmid": "" }, { "name": "cell periphery", "id": "GO:0071944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071944", "evidence": [ { "database": "UniProtKB", "id": "P02686", "url": "https://www.uniprot.org/uniprot/P02686" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "P02686", "url": "https://www.uniprot.org/uniprot/P02686" } ], "pmid": "" }, { "name": "compact myelin", "id": "GO:0043218", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043218", "evidence": [ { "database": "UniProtKB", "id": "P02686", "url": "https://www.uniprot.org/uniprot/P02686" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 15, "go_terms": [ { "name": "immune response", "id": "GO:0006955", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006955", "evidence": [ { "database": "UniProtKB", "id": "P02686", "url": "https://www.uniprot.org/uniprot/P02686" } ], "pmid": "" }, { "name": "MAPK cascade", "id": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0042552", "evidence": [ { "database": "UniProtKB", "id": "P02686", "url": "https://www.uniprot.org/uniprot/P02686" } ], "pmid": "" }, { "name": "membrane organization", "id": "GO:0061024", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061024", "evidence": [ { "database": "UniProtKB", "id": "P02686", "url": "https://www.uniprot.org/uniprot/P02686" } ], "pmid": "" }, { "name": "central nervous system development", "id": "GO:0007417", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007417", "evidence": [ { "database": "UniProtKB", "id": "P02686", "url": "https://www.uniprot.org/uniprot/P02686" } ], "pmid": "" }, { "name": "response to toxic substance", "id": "GO:0009636", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009636", "evidence": [ { "database": "UniProtKB", "id": "P02686", "url": "https://www.uniprot.org/uniprot/P02686" } ], "pmid": "" }, { "name": "sensory perception of sound", "id": "GO:0007605", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007605", "evidence": [ { "database": "UniProtKB", "id": "P02686", "url": "https://www.uniprot.org/uniprot/P02686" } ], "pmid": "" }, { "name": "negative regulation of heterotypic cell-cell adhesion", "id": "GO:0034115", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034115", "evidence": [ { "database": "UniProtKB", "id": "P02686", "url": "https://www.uniprot.org/uniprot/P02686" } ], "pmid": "" }, { "name": "axon ensheathment", "id": "GO:0008366", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008366", "evidence": [ { "database": "UniProtKB", "id": "P02686", "url": "https://www.uniprot.org/uniprot/P02686" } ], "pmid": "" }, { "name": "maintenance of blood-brain barrier", "id": "GO:0035633", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035633", "evidence": [ { "database": "UniProtKB", "id": "P02686", "url": "https://www.uniprot.org/uniprot/P02686" } ], "pmid": "" }, { "name": "positive regulation of metalloendopeptidase activity", "id": "GO:1904685", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904685", "evidence": [ { "database": "UniProtKB", "id": "P02686", "url": "https://www.uniprot.org/uniprot/P02686" } ], "pmid": "" }, { "name": "positive regulation of chemokine (C-X-C motif) ligand 2 production", "id": "GO:2000343", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000343", "evidence": [ { "database": "UniProtKB", "id": "P02686", "url": "https://www.uniprot.org/uniprot/P02686" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 55, "end_pos": 57, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [ { "annotation": "Proteolytically cleaved in B cell lysosomes by cathepsin CTSG which degrades the major immunogenic MBP epitope and prevents the activation of MBP-specific autoreactive T cells.", "evidence": [ { "database": "UniProtKB", "id": "P02686", "url": "https://www.uniprot.org/uniprot/P02686" }, { "database": "PubMed", "id": "15100291", "url": "https://glygen.org/publication/PubMed/15100291" } ] }, { "annotation": "Several charge isomers of MBP; C1 (the most cationic, least modified, and most abundant form), C2, C3, C4, C5, C6, C7, C8-A and C8-B (the least cationic form); are produced as a result of optional PTM, such as phosphorylation, deamidation of glutamine or asparagine, arginine citrullination and methylation. C8-A and C8-B contain each two mass isoforms termed C8-A(H), C8-A(L), C8-B(H) and C8-B(L), (H) standing for higher and (L) for lower molecular weight. C3, C4 and C5 are phosphorylated. The ratio of methylated arginine residues decreases during aging, making the protein more cationic.", "evidence": [ { "database": "UniProtKB", "id": "P02686", "url": "https://www.uniprot.org/uniprot/P02686" }, { "database": "PubMed", "id": "5128665", "url": "https://glygen.org/publication/PubMed/5128665" }, { "database": "PubMed", "id": "23828821", "url": "https://glygen.org/publication/PubMed/23828821" }, { "database": "PubMed", "id": "2466844", "url": "https://glygen.org/publication/PubMed/2466844" } ] } ], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "sequence_features": { "n_linked_sites": [], "o_linked_sites": [ 249 ], "snv_sites": [ 5, 68, 104 ], "glycation_sites": [], "phosphorylation_sites": [ 65, 96, 114, 141, 146, 148, 151, 153, 154, 169, 174, 190, 203, 205, 210, 214, 229, 232, 249, 266, 285, 295, 299 ], "sequon_annotation_sites": [ { "start_pos": 55, "end_pos": 57 } ] }, "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", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "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", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "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": 40 }, { "field": "total_sites", "count": 23 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 4 }, { "field": "total_sites", "count": 3 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 3 }, { "field": "total_sites", "count": 3 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 138 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }