{ "uniprot_canonical_ac": "O00587-1", "uniprot_ac": "O00587", "uniprot_id": "MFNG_HUMAN", "mass": { "chemical_mass": 36202.0, "monoisotopic_mass": 36202.0 }, "refseq": { "ac": "NP_001159815", "name": "beta-1,3-N-acetylglucosaminyltransferase manic fringe isoform 2", "summary": "This gene is a member of the glycosyltransferase 31 gene family. Members of this gene family, which also includes the LFNG (GeneID: 3955) and RFNG (GeneID: 5986) genes, encode evolutionarily conserved glycosyltransferases that act in the Notch signaling pathway to define boundaries during embryonic development. While their genomic structure is distinct from other glycosyltransferases, these proteins have a fucose-specific beta-1,3-N-acetylglucosaminyltransferase activity that leads to elongation of O-linked fucose residues on Notch, which alters Notch signaling. The protein encoded by this gene may control Notch signaling in claudin-low breast cancer. [provided by RefSeq, May 2018].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001159815" }, "gene_names": [ { "name": "MFNG", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O00587", "id": "O00587" }, { "name": "CTA-390B3.2-005", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O00587", "id": "O00587" }, { "name": "CTA-390B3.2-007", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O00587", "id": "O00587" }, { "name": "MFNG", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001159815", "id": "NP_001159815" } ], "protein_names": [ { "name": "Beta-1,3-N-acetylglucosaminyltransferase manic fringe", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O00587" }, { "name": "2.4.1.222", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00587" }, { "name": "O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00587" }, { "name": "beta-1,3-N-acetylglucosaminyltransferase manic fringe isoform 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001159815", "id": "NP_001159815" }, { "name": "beta-1,3-N-acetylglucosaminyltransferase manic fringe; O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001159815", "id": "NP_001159815" } ], "function": [ { "annotation": "Glycosyltransferase that initiates the elongation of O-linked fucose residues attached to EGF-like repeats in the extracellular domain of Notch molecules (By similarity). Modulates NOTCH1 activity by modifying O-fucose residues at specific EGF-like domains resulting in inhibition of NOTCH1 activation by JAG1 and enhancement of NOTCH1 activation by DLL1 via an increase in its binding to DLL1 (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "O00587", "url": "https://www.uniprot.org/uniprot/O00587#function" }, { "database": "UniProtKB", "id": "O09008", "url": "https://www.uniprot.org/uniprot/O09008#function" } ] }, { "annotation": "MFNG imposes a negative correlation between Jag1 and Notch, being high Jag1 in the absence of MFNG predictive of poor prognosis. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001159815", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001159815" }, { "database": "PubMed", "id": "30065304", "url": "https://glygen.org/publication/PubMed/30065304" } ] }, { "annotation": "MFNG is an independent prognostic marker for osteosarcoma. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001159815", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001159815" }, { "database": "PubMed", "id": "37496053", "url": "https://glygen.org/publication/PubMed/37496053" } ] }, { "annotation": "Mfng is an oncogene acting through Notch-mediated induction of Pik3cg.", "evidence": [ { "database": "RefSeq", "id": "NP_001159815", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001159815" }, { "database": "PubMed", "id": "25808869", "url": "https://glygen.org/publication/PubMed/25808869" } ] }, { "annotation": "Nuclear and stromal expression of Manic fringe in renal cell carcinoma.", "evidence": [ { "database": "RefSeq", "id": "NP_001159815", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001159815" }, { "database": "PubMed", "id": "34371013", "url": "https://glygen.org/publication/PubMed/34371013" } ] }, { "annotation": "Observational study of gene-disease association. (HuGE Navigator)", "evidence": [ { "database": "RefSeq", "id": "NP_001159815", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001159815" }, { "database": "PubMed", "id": "20237496", "url": "https://glygen.org/publication/PubMed/20237496" } ] }, { "annotation": "This gene is a member of the glycosyltransferase 31 gene family. Members of this gene family, which also includes the LFNG (GeneID: 3955) and RFNG (GeneID: 5986) genes, encode evolutionarily conserved glycosyltransferases that act in the Notch signaling pathway to define boundaries during embryonic development. While their genomic structure is distinct from other glycosyltransferases, these proteins have a fucose-specific beta-1,3-N-acetylglucosaminyltransferase activity that leads to elongation of O-linked fucose residues on Notch, which alters Notch signaling. The protein encoded by this gene may control Notch signaling in claudin-low breast cancer. [provided by RefSeq, May 2018].", "evidence": [ { "database": "RefSeq", "id": "NP_001159815", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001159815" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs772211342", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772211342" }, { "id": "rs772211342", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772211342" }, { "id": "rs772211342", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs772211342" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 109, "end_pos": 109, "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NCS->DCS).", "chr_id": "22", "chr_pos": "37480279", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N109", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs748308130", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748308130" }, { "id": "rs748308130", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748308130" }, { "id": "rs748308130", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs748308130" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 109, "end_pos": 109, "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NCS->KCS).", "chr_id": "22", "chr_pos": "37480277", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N109", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs529673952", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs529673952" }, { "id": "rs529673952", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs529673952" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 109, "end_pos": 109, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NCS->SCS).", "chr_id": "22", "chr_pos": "37480278", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "0.0002", "site_lbl": "N109", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs760606489", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760606489" }, { "id": "rs760606489", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760606489" }, { "id": "rs760606489", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs760606489#frequency_tab" }, { "id": "rs760606489", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs760606489" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 111, "end_pos": 111, "sequence_org": "S", "sequence_mut": "L", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NCS->NCL).", "chr_id": "22", "chr_pos": "37480223", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S111", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs773658860", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773658860" }, { "id": "rs773658860", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773658860" }, { "id": "rs773658860", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs773658860" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 187, "end_pos": 187, "sequence_org": "T", "sequence_mut": "M", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NRT->NRM).", "chr_id": "22", "chr_pos": "37479346", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T187", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O00587", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O00587" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 206, "end_pos": 206, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "K", "sequence_mut": "T", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (NRK->NRT).", "chr_id": "22", "chr_pos": "37476926", "ref_nt": "T", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "K206", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ] } ], "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": "75.33", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000100060", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100060" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "74.33", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000100060", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100060" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "74.3", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000100060", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100060" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "84.97", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000100060", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100060" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "83.65", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000100060", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100060" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "82.93", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000100060", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100060" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "72.19", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000100060", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100060" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "74.67", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000100060", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100060" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "80.69", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000100060", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100060" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "80.66", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000100060", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100060" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "75.03", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000100060", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100060" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "77.8", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000100060", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100060" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "81.41", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000100060", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100060" } ] } ], "expression_disease": [ { "significant": "No", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O00587", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00587" } ], "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", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", 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"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, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL 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": "No", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O00587", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00587" } ], "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", 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"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": "Yes", "trend": "down", "name": "Urinary bladder 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"MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "O00587", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00587" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00587" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine 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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": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O00587", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00587" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "O00587", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00587" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "O00587", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00587" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", 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"database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:4242", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:4242", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "602577", "url": "http://www.omim.org/entry/602577", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O00587", "url": "https://www.nextprot.org/entry/NX_O00587", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "GSHFVDT", "url": "https://omabrowser.org/oma/group/GSHFVDT/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "2902544at2759", "url": "http://www.orthodb.org/?query=2902544at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR10811", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10811", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR10811:SF6", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10811:SF6", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF02434", "url": "http://pfam.xfam.org/family/PF02434", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O00587", "url": "https://pharos.nih.gov/targets/O00587", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O00587", "url": "http://purl.obolibrary.org/obo/PR_O00587", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-1912420", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1912420", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_001159815", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001159815", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "70511", "url": "https://www.rhea-db.org/rhea/70511", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "70531", "url": "https://www.rhea-db.org/rhea/70531", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "A0A1B0GX02", "url": "https://www.uniprot.org/uniprot/A0A1B0GX02", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A1B0GX02-1", "url": "https://www.uniprot.org/uniprot/A0A1B0GX02-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A9UJP9", "url": "https://www.uniprot.org/uniprot/A9UJP9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A9UJP9-1", "url": "https://www.uniprot.org/uniprot/A9UJP9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A9UJQ1", "url": "https://www.uniprot.org/uniprot/A9UJQ1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A9UJQ1-1", "url": "https://www.uniprot.org/uniprot/A9UJQ1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8WE05", "url": "https://www.uniprot.org/uniprot/F8WE05", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8WE05-1", "url": "https://www.uniprot.org/uniprot/F8WE05-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8WE21", "url": "https://www.uniprot.org/uniprot/F8WE21", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8WE21-1", "url": "https://www.uniprot.org/uniprot/F8WE21-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0Y6Q9", "url": "https://www.uniprot.org/uniprot/H0Y6Q9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0Y6Q9-1", "url": "https://www.uniprot.org/uniprot/H0Y6Q9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O00587", "url": "https://www.uniprot.org/uniprot/O00587", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O00587-1", "url": "https://www.uniprot.org/uniprot/O00587-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O00587-2", "url": "https://www.uniprot.org/uniprot/O00587-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MQCRLPRGLAGALLTLLCMGLLCLRYHLNLSPQRVQGTPELSQPNPGPPKLQLHDVFIAVKTTRAFHRLRLELLLDTWVSRTREQTFVFTDSPDKGLQERLGSHLVVTNCSAEHSHPALSCKMAAEFDTFLASGLRWFCHVDDDNYVNPRALLQLLRAFPLARDVYVGRPSLNRPIHASEPQPHNRTRLVQFWFATGGAGFCINRKLALKMAPWASGSRFMDTSALIRLPDDCTMGYIIECKLGGRLQPSPLFHSHLETLQLLRTAQLPEQVTLSYGVFEGKLNVIKLQGPFSPEEDPSRFRSLHCLLYPDTPWCPQLGAR", "length": 321, "header": "sp|O00587-1|MFNG_HUMAN Isoform 1 of Beta-1,3-N-acetylglucosaminyltransferase manic fringe OS=Homo sapiens OX=9606 GN=MFNG PE=2 SV=2 CANONICAL=O00587-1" }, "isoforms": [ { "isoform_ac": "A0A1B0GX02-1", "url": "", "sequence": { "sequence": "MAAEFDTFLASGLRWFCHVDDDNYVNPRALLQLLRAFPLARD", "length": 42, "header": "tr|A0A1B0GX02-1|MFNG_HUMAN Computationally mapped isoform of Beta-1,3-N-acetylglucosaminyltransferase manic fringe OS=Homo sapiens OX=9606 GN=MFNG PE=2 SV=1 CANONICAL=O00587-1" }, "locus": { "chromosome": "22", "start_pos": 37480237, "end_pos": 37479414, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000442496.1", "url": "https://www.ensembl.org/id/ENST00000442496.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000389274.1", "url": "https://www.ensembl.org/id/ENSP00000389274.1" } ] } }, { "isoform_ac": "A9UJP9-1", "url": "", "sequence": { "sequence": "MQCRLPRGLAGALLTLLCMGLLCLRYHLNLSPQRVQGTPELSQPNPGPPKLQLHDVFIAVKTTRAFHRLRLELLLDTWVSRTREQTFVFTDSPDKGLQERLGSPDSSSLLQGPTLWSP", "length": 118, "header": "tr|A9UJP9-1|A9UJP9_HUMAN Computationally mapped isoform of MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase OS=Homo sapiens OX=9606 GN=MFNG PE=1 SV=1 CANONICAL=O00587-1" }, "locus": { "chromosome": "22", "start_pos": 37486177, "end_pos": 37480279, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000424765.2", "url": "https://www.ensembl.org/id/ENST00000424765.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000407110.2", "url": "https://www.ensembl.org/id/ENSP00000407110.2" } ] } }, { "isoform_ac": "A9UJQ1-1", "url": "", "sequence": { "sequence": "MAAEFDTFLASGLRWFCHVDDDNYVNPRALLQLLRAFPLARDVYVGRPSLNRPIHASEPQPHNRTRLVQFWFATGGAGFCINRKLALKMAPWASGSRFMDTSALIRLPDDCTMGYIIECKLGGRLQPSPLFH", "length": 132, "header": "tr|A9UJQ1-1|MFNG_HUMAN Computationally mapped isoform of Beta-1,3-N-acetylglucosaminyltransferase manic fringe OS=Homo sapiens OX=9606 GN=MFNG PE=2 SV=1 CANONICAL=O00587-1" }, "locus": { "chromosome": "22", "start_pos": 37480237, "end_pos": 37474563, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000436341.5", "url": "https://www.ensembl.org/id/ENST00000436341.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000394081.1", "url": "https://www.ensembl.org/id/ENSP00000394081.1" } ] } }, { "isoform_ac": "F8WE05-1", "url": "", "sequence": { "sequence": "MQCRLPRGLAGALLTLLCMGLLCLRYHLNLSPQRVQGTPELSQPNPGPPKLQLHDVFIAVKTTRAFHRLRLELLLDTWVSRTREQVTNICLHRQPRQRPPGETGVPPCGHQLLRGTQPPSSVLQDGC", "length": 127, "header": "tr|F8WE05-1|F8WE05_HUMAN Computationally mapped isoform of MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase OS=Homo sapiens OX=9606 GN=MFNG PE=1 SV=1 CANONICAL=O00587-1" }, "locus": { "chromosome": "22", "start_pos": 37486177, "end_pos": 37480230, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000430411.1", "url": "https://www.ensembl.org/id/ENST00000430411.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000414342.1", "url": "https://www.ensembl.org/id/ENSP00000414342.1" } ] } }, { "isoform_ac": "F8WE21-1", "url": "", "sequence": { "sequence": "MQCRLPRGLAGALLTLLCMGLLCLRYHLNLSPQRVQGTPELSQPNPGPPKLQLHDVFIAVKTTRAFHRLRLELLLDTWVSRTREQGPTLWSPTAPRNTATQLCPARWLLSSTPSWPVGLGGSAMWTMTTM", "length": 130, "header": "tr|F8WE21-1|F8WE21_HUMAN Computationally mapped isoform of MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase OS=Homo sapiens OX=9606 GN=MFNG PE=1 SV=1 CANONICAL=O00587-1" }, "locus": { "chromosome": "22", "start_pos": 37486177, "end_pos": 37479467, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000438891.5", "url": "https://www.ensembl.org/id/ENST00000438891.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000414222.1", "url": "https://www.ensembl.org/id/ENSP00000414222.1" } ] } }, { "isoform_ac": "H0Y6Q9-1", "url": "", "sequence": { "sequence": "XSHLETLQLLRTAQLPEQISLPPLSALSRYTLVSPAGCPMNPELLGKGWAETSGCALAPKVALWVPGKCLVIGSPWQGLRVVGKPRI", "length": 87, "header": "tr|H0Y6Q9-1|H0Y6Q9_HUMAN Computationally mapped isoform of MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase OS=Homo sapiens OX=9606 GN=MFNG PE=4 SV=1 CANONICAL=O00587-1" }, "locus": { "chromosome": "22", "start_pos": 37474564, "end_pos": 37469822, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000454291.1", "url": "https://www.ensembl.org/id/ENST00000454291.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000407094.1", "url": "https://www.ensembl.org/id/ENSP00000407094.1" } ] } }, { "isoform_ac": "O00587-1", "url": "", "sequence": { "sequence": "MQCRLPRGLAGALLTLLCMGLLCLRYHLNLSPQRVQGTPELSQPNPGPPKLQLHDVFIAVKTTRAFHRLRLELLLDTWVSRTREQTFVFTDSPDKGLQERLGSHLVVTNCSAEHSHPALSCKMAAEFDTFLASGLRWFCHVDDDNYVNPRALLQLLRAFPLARDVYVGRPSLNRPIHASEPQPHNRTRLVQFWFATGGAGFCINRKLALKMAPWASGSRFMDTSALIRLPDDCTMGYIIECKLGGRLQPSPLFHSHLETLQLLRTAQLPEQVTLSYGVFEGKLNVIKLQGPFSPEEDPSRFRSLHCLLYPDTPWCPQLGAR", "length": 321, "header": "sp|O00587-1|MFNG_HUMAN Isoform 1 of Beta-1,3-N-acetylglucosaminyltransferase manic fringe OS=Homo sapiens OX=9606 GN=MFNG PE=2 SV=2 CANONICAL=O00587-1" }, "locus": { "chromosome": "22", "start_pos": 37486177, "end_pos": 37469966, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000356998.8", "url": "https://www.ensembl.org/id/ENST00000356998.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000349490.3", "url": "https://www.ensembl.org/id/ENSP00000349490.3" } ] } }, { "isoform_ac": "O00587-2", "url": "", "sequence": { "sequence": "MQCRLPRGLAGALLTLLCMGLLCLRYHLNLSPQRVQGTPELSQPNPGPPKLQLHDVFIAVKTTRAFHRLRLELLLDTWVSRTREQVTRSHLVVTNCSAEHSHPALSCKMAAEFDTFLASGLRWFCHVDDDNYVNPRALLQLLRAFPLARDVYVGRPSLNRPIHASEPQPHNRTRLVQFWFATGGAGFCINRKLALKMAPWASGSRFMDTSALIRLPDDCTMGYIIECKLGGRLQPSPLFHSHLETLQLLRTAQLPEQVTLSYGVFEGKLNVIKLQGPFSPEEDPSRFRSLHCLLYPDTPWCPQLGAR", "length": 307, "header": "sp|O00587-2|MFNG_HUMAN Isoform 2 of Beta-1,3-N-acetylglucosaminyltransferase manic fringe OS=Homo sapiens OX=9606 GN=MFNG PE=2 SV=2 CANONICAL=O00587-1" }, "locus": { "chromosome": "22", "start_pos": 37486177, "end_pos": 37469966, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000416983.7", "url": "https://www.ensembl.org/id/ENST00000416983.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000413855.3", "url": "https://www.ensembl.org/id/ENSP00000413855.3" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 109, "start_aa": "Asn", "end_pos": 109, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn109", "evidence": [ { "id": "O00587", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O00587#ptm_processing" }, { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 173, "start_aa": "Asn", "end_pos": 173, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn173", "evidence": [ { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 185, "start_aa": "Asn", "end_pos": 185, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn185", "evidence": [ { "id": "O00587", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O00587#ptm_processing" }, { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "enzyme", "glycosyltransferase-activity", "glycoprotein", "glycoprotein_reported" ], "publication": [ { "title": "Sorting of furin at the trans-Golgi network. Interaction of the cytoplasmic tail sorting signals with AP-1 Golgi-specific assembly proteins.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Teuchert M, Schafer W, Berghofer S, Hoflack B, Klenk HD, Garten W", "evidence": [ { "database": "Reactome", "id": "R-HSA-1912420", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1912420" } ], "reference": [ { "type": "PubMed", "id": "10075724", "url": "https://glygen.org/publication/PubMed/10075724" } ] }, { "title": "p24 proteins and quality control of LIN-12 and GLP-1 trafficking in Caenorhabditis elegans.", "journal": "The Journal of cell biology", "date": "1999", "authors": "Wen C, Greenwald I", "evidence": [ { "database": "Reactome", "id": "R-HSA-1912420", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1912420" } ], "reference": [ { "type": "PubMed", "id": "10366590", "url": "https://glygen.org/publication/PubMed/10366590" } ] }, { "title": "The developmental role of warthog, the notch modifier encoding Drab6.", "journal": "The Journal of cell biology", "date": "1999", "authors": "Purcell K, Artavanis-Tsakonas S", "evidence": [ { "database": "Reactome", "id": "R-HSA-1912420", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1912420" } ], "reference": [ { "type": "PubMed", "id": "10459009", "url": "https://glygen.org/publication/PubMed/10459009" } ] }, { "title": "Ca(2+)-ATPase function is required for intracellular trafficking of the Notch receptor in Drosophila.", "journal": "The EMBO journal", "date": "1999", "authors": "Periz G, Fortini ME", "evidence": [ { "database": "Reactome", "id": "R-HSA-1912420", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1912420" } ], "reference": [ { "type": "PubMed", "id": "10545110", "url": "https://glygen.org/publication/PubMed/10545110" } ] }, { "title": "Calcium depletion dissociates and activates heterodimeric notch receptors.", "journal": "Molecular and cellular biology", "date": "2000", "authors": "Rand MD, Grimm LM, Artavanis-Tsakonas S, Patriub V, Blacklow SC, Sklar J, Aster JC", "evidence": [ { "database": "Reactome", "id": "R-HSA-1912420", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1912420" } ], "reference": [ { "type": "PubMed", "id": "10669757", "url": "https://glygen.org/publication/PubMed/10669757" } ] }, { "title": "Fringe is a glycosyltransferase that modifies Notch.", "journal": "Nature", "date": "2000", "authors": "Moloney DJ, Panin VM, Johnston SH, Chen J, Shao L, Wilson R, Wang Y, Stanley P, Irvine KD, Haltiwanger RS, Vogt TF", "evidence": [ { "database": "Reactome", "id": "R-HSA-1912420", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1912420" } ], "reference": [ { "type": "PubMed", "id": "10935626", "url": "https://glygen.org/publication/PubMed/10935626" } ] }, { "title": "Glycosyltransferase activity of Fringe modulates Notch-Delta interactions.", "journal": "Nature", "date": "2000", "authors": "Bruckner K, Perez L, Clausen H, Cohen S", "evidence": [ { "database": "Reactome", "id": "R-HSA-1912420", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1912420" } ], "reference": [ { "type": "PubMed", "id": "10935637", "url": "https://glygen.org/publication/PubMed/10935637" } ] }, { "title": "Oh no, Notch again!", "journal": "BioEssays : news and reviews in molecular, cellular and developmental biology", "date": "2001", "authors": "Frisen J, Lendahl U", "evidence": [ { "database": "Reactome", "id": "R-HSA-1912420", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1912420" } ], "reference": [ { "type": "PubMed", "id": "11135303", "url": "https://glygen.org/publication/PubMed/11135303" } ] }, { "title": "The human sialyltransferase family.", "journal": "Biochimie", "date": "2001", "authors": "Harduin-Lepers A, Vallejo-Ruiz V, Krzewinski-Recchi MA, Samyn-Petit B, Julien S, Delannoy P", "evidence": [ { "database": "Reactome", "id": "R-HSA-1912420", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1912420" } ], "reference": [ { "type": "PubMed", "id": "11530204", "url": "https://glygen.org/publication/PubMed/11530204" } ] }, { "title": "Fringe modulation of Jagged1-induced Notch signaling requires the action of beta 4galactosyltransferase-1.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2001", "authors": "Chen J, Moloney DJ, Stanley P", "evidence": [ { "database": "Reactome", "id": "R-HSA-1912420", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1912420" } ], "reference": [ { "type": "PubMed", "id": "11707585", "url": "https://glygen.org/publication/PubMed/11707585" } ] }, { "title": "Furin cleavage is not a requirement for Drosophila Notch function.", "journal": "Mechanisms of development", "date": "2002", "authors": "Kidd S, Lieber T", "evidence": [ { "database": "Reactome", "id": "R-HSA-1912420", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1912420" } ], "reference": [ { "type": "PubMed", "id": "12049766", "url": "https://glygen.org/publication/PubMed/12049766" } ] }, { "title": "Notch2: a second mammalian Notch gene.", "journal": "Development (Cambridge, England)", "date": "1992", "authors": "Weinmaster G, Roberts VJ, Lemke G", "evidence": [ { "database": "Reactome", "id": "R-HSA-1912420", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1912420" } ], "reference": [ { "type": "PubMed", "id": "1295745", "url": "https://glygen.org/publication/PubMed/1295745" } ] }, { "title": "A homolog of Drosophila Notch expressed during mammalian development.", "journal": "Development (Cambridge, England)", "date": "1991", "authors": "Weinmaster G, Roberts VJ, Lemke G", "evidence": [ { "database": "Reactome", "id": "R-HSA-1912420", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1912420" } ], "reference": [ { "type": "PubMed", "id": "1764995", "url": "https://glygen.org/publication/PubMed/1764995" } ] }, { "title": "Effects of S1 cleavage on the structure, surface export, and signaling activity of human Notch1 and Notch2.", "journal": "PloS one", "date": "2009", "authors": "Gordon WR, Vardar-Ulu D, L'Heureux S, Ashworth T, Malecki MJ, Sanchez-Irizarry C, McArthur DG, Histen G, Mitchell JL, Aster JC, Blacklow SC", "evidence": [ { "database": "Reactome", "id": "R-HSA-1912420", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1912420" } ], "reference": [ { "type": "PubMed", "id": "19701457", "url": "https://glygen.org/publication/PubMed/19701457" } ] }, { "title": "SEL1L deficiency impairs growth and differentiation of pancreatic epithelial cells.", "journal": "BMC developmental biology", "date": "2010", "authors": "Li S, Francisco AB, Munroe RJ, Schimenti JC, Long Q", "evidence": [ { "database": "Reactome", "id": "R-HSA-1912420", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1912420" } ], "reference": [ { "type": "PubMed", "id": "20170518", "url": "https://glygen.org/publication/PubMed/20170518" } ] }, { "title": "Deficiency of suppressor enhancer Lin12 1 like (SEL1L) in mice leads to systemic endoplasmic reticulum stress and embryonic lethality.", "journal": "The Journal of biological chemistry", "date": "2010", "authors": "Francisco AB, Singh R, Li S, Vani AK, Yang L, Munroe RJ, Diaferia G, Cardano M, Biunno I, Qi L, Schimenti JC, Long Q", "evidence": [ { "database": "Reactome", "id": "R-HSA-1912420", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1912420" } ], "reference": [ { "type": "PubMed", "id": "20197277", "url": "https://glygen.org/publication/PubMed/20197277" } ] }, { "title": "New genetic associations detected in a host response study to hepatitis B vaccine.", "journal": "Genes and immunity", "date": "2010", "authors": "Davila S, Froeling FE, Tan A, Bonnard C, Boland GJ, Snippe H, Hibberd ML, Seielstad M", "evidence": [ { "database": "RefSeq", "id": "NP_001159815", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001159815" } ], "reference": [ { "type": "PubMed", "id": "20237496", "url": "https://glygen.org/publication/PubMed/20237496" } ] }, { "title": "Lunatic Fringe prolongs Delta/Notch-induced self-renewal of committed alphabeta T-cell progenitors.", "journal": "Blood", "date": "2011", "authors": "Yuan JS, Tan JB, Visan I, Matei IR, Urbanellis P, Xu K, Danska JS, Egan SE, Guidos CJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-1912420", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1912420" } ], "reference": [ { "type": "PubMed", "id": "21097675", "url": "https://glygen.org/publication/PubMed/21097675" } ] }, { "title": "N-linked glycosylation enrichment for in-depth cell surface proteomics of diffuse large B-cell lymphoma subtypes.", "journal": "Molecular & cellular proteomics : MCP", "date": "2014", "authors": "Deeb SJ, Cox J, Schmidt-Supprian M, Mann M", "evidence": [ { "database": "GlyGen", "id": "GLY_000143", "url": "https://data.glygen.org/GLY_000143" } ], "reference": [ { "type": "PubMed", "id": "24190977", "url": "https://glygen.org/publication/PubMed/24190977" } ] }, { "title": "Manic fringe promotes a claudin-low breast cancer phenotype through notch-mediated PIK3CG induction.", "journal": "Cancer research", "date": "2015", "authors": "Zhang S, Chung WC, Wu G, Egan SE, Miele L, Xu K", "evidence": [ { "database": "RefSeq", "id": "NP_001159815", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001159815" } ], "reference": [ { "type": "PubMed", "id": "25808869", "url": "https://glygen.org/publication/PubMed/25808869" } ] }, { "title": "Manic Fringe deficiency imposes Jagged1 addiction to intestinal tumor cells.", "journal": "Nature communications", "date": "2018", "authors": "Lopez-Arribillaga E, Rodilla V, Colomer C, Vert A, Shelton A, Cheng JH, Yan B, Gonzalez-Perez A, Junttila MR, Iglesias M, Torres F, Albanell J, Villanueva A, Bigas A, Siebel CW, Espinosa L", "evidence": [ { "database": "RefSeq", "id": "NP_001159815", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001159815" } ], "reference": [ { "type": "PubMed", "id": "30065304", "url": "https://glygen.org/publication/PubMed/30065304" } ] }, { "title": "Nuclear and stromal expression of Manic fringe in renal cell carcinoma.", "journal": "Experimental and molecular pathology", "date": "2021", "authors": "Cheng WK, Kaur G, Sjoberg E, Frodin M, Egevad L, Harmenberg U, Li JL, Oon CE", "evidence": [ { "database": "RefSeq", "id": "NP_001159815", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001159815" } ], "reference": [ { "type": "PubMed", "id": "34371013", "url": "https://glygen.org/publication/PubMed/34371013" } ] }, { "title": "MFNG is an independent prognostic marker for osteosarcoma.", "journal": "European journal of medical research", "date": "2023-07-26", "authors": "Gao Yi, Luo Lili, Qu Yuxing, Zhou Qi", "evidence": [ { "database": "RefSeq", "id": "NP_001159815", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001159815" } ], "reference": [ { "type": "PubMed", "id": "37496053", "url": "https://glygen.org/publication/PubMed/37496053" } ] }, { "title": "The novel Notch homologue mouse Notch 3 lacks specific epidermal growth factor-repeats and is expressed in proliferating neuroepithelium.", "journal": "Mechanisms of development", "date": "1994", "authors": "Lardelli M, Dahlstrand J, Lendahl U", "evidence": [ { "database": "Reactome", "id": "R-HSA-1912420", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1912420" } ], "reference": [ { "type": "PubMed", "id": "7918097", "url": "https://glygen.org/publication/PubMed/7918097" } ] }, { "title": "Suppressors of a lin-12 hypomorph define genes that interact with both lin-12 and glp-1 in Caenorhabditis elegans.", "journal": "Genetics", "date": "1993", "authors": "Sundaram M, Greenwald I", "evidence": [ { "database": "Reactome", "id": "R-HSA-1912420", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1912420" } ], "reference": [ { "type": "PubMed", "id": "8293978", "url": "https://glygen.org/publication/PubMed/8293978" } ] }, { "title": "Notch4/int-3, a mammary proto-oncogene, is an endothelial cell-specific mammalian Notch gene.", "journal": "Development (Cambridge, England)", "date": "1996", "authors": "Uyttendaele H, Marazzi G, Wu G, Yan Q, Sassoon D, Kitajewski J", "evidence": [ { "database": "Reactome", "id": "R-HSA-1912420", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1912420" } ], "reference": [ { "type": "PubMed", "id": "8681805", "url": "https://glygen.org/publication/PubMed/8681805" } ] }, { "title": "A family of mammalian Fringe genes implicated in boundary determination and the Notch pathway.", "journal": "Development", "date": "1997", "authors": "Johnston SH, Rauskolb C, Wilson R, Prabhakaran B, Irvine KD, Vogt TF", "evidence": [ { "database": "UniProtKB", "id": "O00587", "url": "https://www.uniprot.org/uniprot/O00587" }, { "database": "Reactome", "id": "R-HSA-1912420", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1912420" } ], "reference": [ { "type": "PubMed", "id": "9187150", "url": "https://glygen.org/publication/PubMed/9187150" } ] }, { "title": "Fringe boundaries coincide with Notch-dependent patterning centres in mammals and alter Notch-dependent development in Drosophila.", "journal": "Nature genetics", "date": "1997", "authors": "Cohen B, Bashirullah A, Dagnino L, Campbell C, Fisher WW, Leow CC, Whiting E, Ryan D, Zinyk D, Boulianne G, Hui CC, Gallie B, Phillips RA, Lipshitz HD, Egan SE", "evidence": [ { "database": "Reactome", "id": "R-HSA-1912420", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1912420" } ], "reference": [ { "type": "PubMed", "id": "9207795", "url": "https://glygen.org/publication/PubMed/9207795" } ] }, { "title": "Intracellular cleavage of Notch leads to a heterodimeric receptor on the plasma membrane.", "journal": "Cell", "date": "1997", "authors": "Blaumueller CM, Qi H, Zagouras P, Artavanis-Tsakonas S", "evidence": [ { "database": "Reactome", "id": "R-HSA-1912420", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1912420" } ], "reference": [ { "type": "PubMed", "id": "9244302", "url": "https://glygen.org/publication/PubMed/9244302" } ] }, { "title": "The Notch1 receptor is cleaved constitutively by a furin-like convertase.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1998", "authors": "Logeat F, Bessia C, Brou C, LeBail O, Jarriault S, Seidah NG, Israel A", "evidence": [ { "database": "Reactome", "id": "R-HSA-1912420", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1912420" } ], "reference": [ { "type": "PubMed", "id": "9653148", "url": "https://glygen.org/publication/PubMed/9653148" } ] }, { "title": "Roles for proteolysis and trafficking in notch maturation and signal transduction.", "journal": "Cell", "date": "1998", "authors": "Chan YM, Jan YN", "evidence": [ { "database": "Reactome", "id": "R-HSA-1912420", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1912420" } ], "reference": [ { "type": "PubMed", "id": "9727485", "url": "https://glygen.org/publication/PubMed/9727485" } ] } ], "pathway": [ { "id": "hsa:4242", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:4242", "resource": "KEGG Pathway" }, { "id": "R-HSA-1912420", "name": "Pre-NOTCH Processing in Golgi", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1912420", "resource": "Reactome", "description": "Pre-NOTCH Processing in Golgi" } ], "orthologs": [ { "uniprot_canonical_ac": "G3V725-1", "protein_name": "MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase", "gene_name": "Mfng", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MHCRVFRGLAGALFTLLCVGLLSLRYHSSLSLRTMQGTLRLNQPNPGHLELQLGDIFIGVKTTWAFHRSRLDLLLDTWVSRTRQQTFIFTDSPDELLQERLGSHLVVTNCSAEHSHPALSCKMAAEFDAFLVSGLRWFCHVDDDNYVNPKALLQLLRTFPQDHDVYVGKPSLNRPIHASELQSKNRTRLVRFWFATGGAGFCINRQLALKMVPWASGSHFVDTSALIRLPDDCTVGYIIECKLGGHLQPSPLFHSHLETLQLLGTAQLLEQVTLSYGVFEGKLNIIKLPGPFSHEEDPSRFRSLHCLLYPDTPWCPLLAVP", "length": 321 }, "evidence": [ { "id": "O00587", "url": "https://omabrowser.org/oma/group/O00587/", "database": "OMA" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "O09008-1", "protein_name": "Beta-1,3-N-acetylglucosaminyltransferase manic fringe", "gene_name": "Mfng", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MHCRLFRGMAGALFTLLCVGLLSLRYHSSLSQRMIQGALRLNQRNPGPLELQLGDIFIAVKTTWAFHRSRLDLLLDTWVSRIRQQTFIFTDSPDERLQERLGPHLVVTNCSAEHSHPALSCKMAAEFDAFLVSGLRWFCHVDDDNYVNPKALLQLLKTFPQDRDVYVGKPSLNRPIHASELQSKNRTKLVRFWFATGGAGFCINRQLALKMVPWASGSHFVDTSALIRLPDDCTVGYIIECKLGGRLQPSPLFHSHLETLQLLGAAQLPEQVTLSYGVFEGKLNVIKLPGPFSHEEDPSRFRSLHCLLYPDTPWCPLLAAP", "length": 321 }, "evidence": [ { "id": "45919355", "url": "http://www.informatics.jax.org/homology/45919355", "database": "MGI" }, { "id": "O00587", "url": "https://omabrowser.org/oma/group/O00587/", "database": "OMA" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 3, "go_terms": [ { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "O00587", "url": "https://www.uniprot.org/uniprot/O00587" } ], "pmid": "" }, { "name": "Golgi membrane", "id": "GO:0000139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000139", "evidence": [ { "database": "UniProtKB", "id": "O00587", "url": "https://www.uniprot.org/uniprot/O00587" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "O00587", "url": "https://www.uniprot.org/uniprot/O00587" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 3, "go_terms": [ { "name": "glycosyltransferase activity", "id": "GO:0016757", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016757", "evidence": [ { "database": "UniProtKB", "id": "O00587", "url": "https://www.uniprot.org/uniprot/O00587" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "O00587", "url": "https://www.uniprot.org/uniprot/O00587" } ], "pmid": "" }, { "name": "O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity", "id": "GO:0033829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033829", "evidence": [ { "database": "UniProtKB", "id": "O00587", "url": "https://www.uniprot.org/uniprot/O00587" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 5, "go_terms": [ { "name": "positive regulation of Notch signaling pathway", "id": "GO:0045747", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045747", "evidence": [ { "database": "UniProtKB", "id": "O00587", "url": "https://www.uniprot.org/uniprot/O00587" } ], "pmid": "" }, { "name": "pattern specification process", "id": "GO:0007389", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007389", "evidence": [ { "database": "UniProtKB", "id": "O00587", "url": "https://www.uniprot.org/uniprot/O00587" } ], "pmid": "" }, { "name": "marginal zone B cell differentiation", "id": "GO:0002315", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002315", "evidence": [ { "database": "UniProtKB", "id": "O00587", "url": "https://www.uniprot.org/uniprot/O00587" } ], "pmid": "" }, { "name": "blastocyst formation", "id": "GO:0001825", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001825", "evidence": [ { "database": "UniProtKB", "id": "O00587", "url": "https://www.uniprot.org/uniprot/O00587" } ], "pmid": "" }, { "name": "regulation of Notch signaling pathway", "id": "GO:0008593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008593", "evidence": [ { "database": "UniProtKB", "id": "O00587", "url": "https://www.uniprot.org/uniprot/O00587" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 109, "end_pos": 111, "annotation": "n_glycosylation_sequon" }, { "start_pos": 185, "end_pos": 187, "annotation": "n_glycosylation_sequon" }, { "start_pos": 29, "end_pos": 31, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "70511", "name": "", "equation": "3-O-(alpha-L-fucosyl)-L-seryl-[EGF-like domain protein] + UDP-N-acetyl-alpha-D-glucosamine = 3-O-(N-acetyl-beta-D-glucosaminyl-(1->3)-alpha-L-fucosyl)-L-seryl-[EGF-like domain protein] + H(+) + UDP", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q924T4-1", "Q9R1U9-1", "O00587-1", "Q9Y644-1", "Q8NES3-1", "O09010-1", "O09008-1", "O09009-1", "Q24342-1" ], "evidence": [ { "id": "70511", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/70511" } ] }, { "id": "70531", "name": "", "equation": "3-O-(alpha-L-fucosyl)-L-threonyl-[EGF-like domain protein] + UDP-N-acetyl-alpha-D-glucosamine = 3-O-(N-acetyl-beta-D-glucosaminyl-(1->3)-alpha-L-fucosyl)-L-threonyl-[EGF-like domain protein] + H(+) + UDP", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q924T4-1", "Q9R1U9-1", "O00587-1", "Q9Y644-1", "Q8NES3-1", "O09010-1", "O09008-1", "O09009-1", "Q24342-1" ], "evidence": [ { "id": "70531", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/70531" } ] }, { "id": "R-HSA-1912355", "name": "Glycosylation of Pre-NOTCH by FRINGE", "equation": "", "summary": "The Fringe family (CAZy family GT31) of glycosyltransferases in mammals includes LFNG (lunatic fringe; MIM:602576), MFNG (manic fringe; MIM:602577) and RFNG (radical fringe; MIM:602578). Fringe enzymes function in the Golgi apparatus where they initiate the elongation of O-linked fucose on fucosylated peptides by the addition of a beta-1,3-N-acetylglucosaminyl group (GlcNAc) (Moloney et al. 2000). Fringe enzymes elongate conserved O fucosyl residues conjugated to EGF repeats of NOTCH, modulating NOTCH activity (Cohen et al. 1997, Johnston et al. 1997) by decreasing the affinity of NOTCH extracellular domain for JAG ligands (Bruckner et al. 2000). In developing mouse thymocytes, Lfng enhances Notch1 activation by Dll4, resulting in prolonged Notch1 signaling that promotes self-renewal of TCR-beta-expressing progenitors (Yuan et al. 2011). Since the exact preference, if any, of fringe enzymes for NOTCH O-fucose sites is not known, the extension of an O-fucosyl residue at an unknown protein position is shown.", "cellular_location": "Golgi lumen, Golgi membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q9Y644-1", "Q8NES3-1", "O00587-1" ], "evidence": [ { "id": "R-HSA-1912355", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1912355" } ] } ], "reaction_participants": [], "reaction_enzymes": [ { "uniprot_ac": "O00587", "gene_name": "MFNG", "activity": [ { "ec_number": "2.4.1.222", "activity": "3-O-(alpha-L-fucosyl)-L-seryl-[EGF-like domain protein] + UDP-N-acetyl-alpha-D-glucosamine = 3-O-(N-acetyl-beta-D-glucosaminyl-(1->3)-alpha-L-fucosyl)-L-seryl-[EGF-like domain protein] + H(+) + UDP.", "evidence": [ { "id": "O00587", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O00587" } ] }, { "ec_number": "2.4.1.222", "activity": "", "evidence": [ { "id": "O00587", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O00587" } ] } ] }, { "uniprot_ac": "O09008", "gene_name": "Mfng", "activity": [ { "ec_number": "2.4.1.222", "activity": "3-O-(alpha-L-fucosyl)-L-seryl-[EGF-like domain protein] + UDP-N-acetyl-alpha-D-glucosamine = 3-O-(N-acetyl-beta-D-glucosaminyl-(1->3)-alpha-L-fucosyl)-L-seryl-[EGF-like domain protein] + H(+) + UDP.", "evidence": [ { "id": "O09008", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O09008" } ] }, { "ec_number": "2.4.1.222", "activity": "", "evidence": [ { "id": "O09008", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O09008" } ] } ] }, { "uniprot_ac": "O09009", "gene_name": "Rfng", "activity": [ { "ec_number": "2.4.1.222", "activity": "3-O-(alpha-L-fucosyl)-L-seryl-[EGF-like domain protein] + UDP-N-acetyl-alpha-D-glucosamine = 3-O-(N-acetyl-beta-D-glucosaminyl-(1->3)-alpha-L-fucosyl)-L-seryl-[EGF-like domain protein] + H(+) + UDP.", "evidence": [ { "id": "O09009", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O09009" } ] }, { "ec_number": "2.4.1.222", "activity": "", "evidence": [ { "id": "O09009", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O09009" } ] } ] }, { "uniprot_ac": "O09010", "gene_name": "Lfng", "activity": [ { "ec_number": "2.4.1.222", "activity": "3-O-(alpha-L-fucosyl)-L-seryl-[EGF-like domain protein] + UDP-N-acetyl-alpha-D-glucosamine = 3-O-(N-acetyl-beta-D-glucosaminyl-(1->3)-alpha-L-fucosyl)-L-seryl-[EGF-like domain protein] + H(+) + UDP.", "evidence": [ { "id": "O09010", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O09010" } ] }, { "ec_number": "2.4.1.222", "activity": "", "evidence": [ { "id": "O09010", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O09010" } ] } ] }, { "uniprot_ac": "Q24342", "gene_name": "fng", "activity": [ { "ec_number": "2.4.1.222", "activity": "3-O-(alpha-L-fucosyl)-L-seryl-[EGF-like domain protein] + 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