{ "uniprot_canonical_ac": "O60318-1", "uniprot_ac": "O60318", "uniprot_id": "GANP_HUMAN", "mass": { "chemical_mass": 218405.0, "monoisotopic_mass": 218405.0 }, "refseq": { "ac": "NP_003897", "name": "germinal-center associated nuclear protein", "summary": "The minichromosome maintenance protein 3 (MCM3) is one of the MCM proteins essential for the initiation of DNA replication. The protein encoded by this gene is a MCM3 binding protein. It was reported to have phosphorylation-dependent DNA-primase activity, which was up-regulated in antigen immunization induced germinal center. This protein was demonstrated to be an acetyltransferase that acetylates MCM3 and plays a role in DNA replication. The mutagenesis of a nuclear localization signal of MCM3 affects the binding of this protein with MCM3, suggesting that this protein may also facilitate MCM3 nuclear localization. This gene is expressed in the brain or in neuronal tissue. An allelic variant encoding amino acid Lys at 915, instead of conserved Glu, has been identified in patients with mild intellectual disability. [provided by RefSeq, Jan 2014].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003897" }, "gene_names": [ { "name": "MCM3AP", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O60318", "id": "O60318" }, { "name": "GANP; MAP80; PNRIID; SAC3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003897", "id": "NP_003897" }, { "name": "GANP", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O60318", "id": "O60318" }, { "name": "KIAA0572", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O60318", "id": "O60318" }, { "name": "MAP80", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O60318", "id": "O60318" }, { "name": "MCM3AP", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003897", "id": "NP_003897" } ], "protein_names": [ { "name": "Germinal-center associated nuclear protein", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O60318" }, { "name": "2.3.1.-", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O60318" }, { "name": "2.3.1.48", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O60318" }, { "name": "80 kDa MCM3-associated protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O60318" }, { "name": "GANP", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O60318" }, { "name": "MCM3 acetylating protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O60318" }, { "name": "MCM3 acetyltransferase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O60318" }, { "name": "MCM3 minichromosome maintenance deficient 3 associated protein; germinal center-associated nuclear protein; MCM3 import protein; 80 kDa MCM3-associated protein; germinal-centre associated nuclear protein; MCM3 acetyltransferase; MCM3 acetylating protein", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003897", "id": "NP_003897" }, { "name": "MCM3AP", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O60318" }, { "name": "germinal-center associated nuclear protein", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003897", "id": "NP_003897" } ], "function": [ { "annotation": "As a component of the TREX-2 complex, involved in the export of mRNAs to the cytoplasm through the nuclear pores (PubMed:20005110, PubMed:20384790, PubMed:23591820, PubMed:22307388). Through the acetylation of histones, affects the assembly of nucleosomes at immunoglobulin variable region genes and promotes the recruitment and positioning of transcription complex to favor DNA cytosine deaminase AICDA/AID targeting, hence promoting somatic hypermutations (PubMed:23652018).", "evidence": [ { "database": "UniProtKB", "id": "O60318", "url": "https://www.uniprot.org/uniprot/O60318#function" }, { "database": "PubMed", "id": "22307388", "url": "https://glygen.org/publication/PubMed/22307388" }, { "database": "PubMed", "id": "20005110", "url": "https://glygen.org/publication/PubMed/20005110" }, { "database": "PubMed", "id": "23652018", "url": "https://glygen.org/publication/PubMed/23652018" }, { "database": "PubMed", "id": "23591820", "url": "https://glygen.org/publication/PubMed/23591820" }, { "database": "PubMed", "id": "20384790", "url": "https://glygen.org/publication/PubMed/20384790" } ] }, { "annotation": "Binds to and acetylates the replication protein MCM3. Plays a role in the initiation of DNA replication and participates in controls that ensure that DNA replication initiates only once per cell cycle (PubMed:11258703, PubMed:12226073). Through the acetylation of histones, affects the assembly of nucleosomes at immunoglobulin variable region genes and promotes the recruitment and positioning of transcription complex to favor DNA cytosine deaminase AICDA/AID targeting, hence promoting somatic hypermutations (PubMed:23652018).", "evidence": [ { "database": "UniProtKB", "id": "O60318", "url": "https://www.uniprot.org/uniprot/O60318#function" }, { "database": "PubMed", "id": "11258703", "url": "https://glygen.org/publication/PubMed/11258703" }, { "database": "PubMed", "id": "23652018", "url": "https://glygen.org/publication/PubMed/23652018" }, { "database": "PubMed", "id": "12226073", "url": "https://glygen.org/publication/PubMed/12226073" } ] }, { "annotation": "Distinct effects on mRNA export factor GANP underlie neurological disease phenotypes and alter gene expression depending on intron content.", "evidence": [ { "database": "RefSeq", "id": "NP_003897", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003897" }, { "database": "PubMed", "id": "32202298", "url": "https://glygen.org/publication/PubMed/32202298" } ] }, { "annotation": "Genetic spectrum of MCM3AP and its relationship with phenotype of Charcot-Marie-Tooth disease.", "evidence": [ { "database": "RefSeq", "id": "NP_003897", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003897" }, { "database": "PubMed", "id": "32319184", "url": "https://glygen.org/publication/PubMed/32319184" } ] }, { "annotation": "Long noncoding RNA MCM3AP antisense RNA 1 is downregulated in chronic obstructive pulmonary disease and regulates human bronchial smooth muscle cell proliferation.", "evidence": [ { "database": "RefSeq", "id": "NP_003897", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003897" }, { "database": "PubMed", "id": "32940099", "url": "https://glygen.org/publication/PubMed/32940099" } ] }, { "annotation": "The critical role of germinal center-associated nuclear protein in cell biology, immunohematology, and hematolymphoid oncogenesis. Review article", "evidence": [ { "database": "RefSeq", "id": "NP_003897", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003897" }, { "database": "PubMed", "id": "32827560", "url": "https://glygen.org/publication/PubMed/32827560" } ] }, { "annotation": "The minichromosome maintenance protein 3 (MCM3) is one of the MCM proteins essential for the initiation of DNA replication. The protein encoded by this gene is a MCM3 binding protein. It was reported to have phosphorylation-dependent DNA-primase activity, which was up-regulated in antigen immunization induced germinal center. This protein was demonstrated to be an acetyltransferase that acetylates MCM3 and plays a role in DNA replication. The mutagenesis of a nuclear localization signal of MCM3 affects the binding of this protein with MCM3, suggesting that this protein may also facilitate MCM3 nuclear localization. This gene is expressed in the brain or in neuronal tissue. An allelic variant encoding amino acid Lys at 915, instead of conserved Glu, has been identified in patients with mild intellectual disability. [provided by RefSeq, Jan 2014].", "evidence": [ { "database": "RefSeq", "id": "NP_003897", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003897" } ] }, { "annotation": "Two Cases of Periodic Paralysis Associated With MCM3AP Variants.", "evidence": [ { "database": "RefSeq", "id": "NP_003897", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003897" }, { "database": "PubMed", "id": "37611268", "url": "https://glygen.org/publication/PubMed/37611268" } ] } ], "disease": [ { "disease_id": "MONDO:0029131", "recommended_name": { "id": "MONDO:0029131", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0029131", "name": "peripheral neuropathy, autosomal recessive, with or without impaired intellectual development", "description": "" }, "synonyms": [ { "id": "MONDO:0029131", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0029131", "name": "peripheral neuropathy, autosomal recessive, with or without impaired intellectual development", "description": "" }, { "id": "MONDO:0029131", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0029131", "name": "PNRIID", "description": "" }, { "id": "MIM:618124", "resource": "MIM", "url": "https://www.omim.org/entry/618124", "name": "Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development", "description": "Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development" } ], "evidence": [ { "id": "618124", "database": "MIM", "url": "https://www.omim.org/entry/618124" } ] } ], "snv": [ { "evidence": [ { "id": "O60318", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O60318" } ], "glycoeffect": [], "start_pos": 1078, "end_pos": 1078, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "21", "chr_pos": "46265323", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E1078", "disease": [ { "disease_id": "DOID:1793", "recommended_name": { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas." }, "synonyms": [ { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "Ca body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "Ca head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "Ca tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "pancreas neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "pancreatic neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "pancreatic tumor", "description": "" } ] }, { "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": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of 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"https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "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" } ] }, { "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 kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": 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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": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O60318", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60318" } ], "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": "O60318", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60318" } ], "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": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "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": "down", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "O60318", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60318" } ], "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. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] } ] }, { "significant": "No", "trend": "down", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "O60318", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60318" } ], "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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"MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "O60318", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60318" } ], "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed 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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": "O60318", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60318" } ], "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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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60318" } ], "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": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "O60318", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60318" } ], "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", 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located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": 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"https://pharos.nih.gov/targets/O60318", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O60318", "url": "http://purl.obolibrary.org/obo/PR_O60318", "database": "PRO", "categories": [ "Protein" ] }, { "id": "NP_003897", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003897", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "21992", "url": "https://www.rhea-db.org/rhea/21992", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "A0A0A0MSZ7", "url": "https://www.uniprot.org/uniprot/A0A0A0MSZ7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0A0MSZ7-1", "url": "https://www.uniprot.org/uniprot/A0A0A0MSZ7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O60318", "url": "https://www.uniprot.org/uniprot/O60318", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O60318-1", "url": "https://www.uniprot.org/uniprot/O60318-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O60318-2", "url": "https://www.uniprot.org/uniprot/O60318-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MNPTNPFSGQQPSAFSASSSNVGTLPSKPPFRFGQPSLFGQNSTLSGKSSGFSQVSSFPASSGVSHSSSVQTLGFTQTSSVGPFSGLEHTSTFVATSGPSSSSVLGNTGFSFKSPTSVGAFPSTSAFGQEAGEIVNSGFGKTEFSFKPLENAVFKPILGAESEPEKTQSQIASGFFTFSHPISSAPGGLAPFSFPQVTSSSATTSNFTFSKPVSSNNSLSAFTPALSNQNVEEEKRGPKSIFGSSNNSFSSFPVSSAVLGEPFQASKAGVRQGCEEAVSQVEPLPSLMKGLKRKEDQDRSPRRHGHEPAEDSDPLSRGDHPPDKRPVRLNRPRGGTLFGRTIQDVFKSNKEVGRLGNKEAKKETGFVESAESDHMAIPGGNQSVLAPSRIPGVNKEEETESREKKEDSLRGTPARQSNRSESTDSLGGLSPSEVTAIQCKNIPDYLNDRTILENHFGKIAKVQRIFTRRSKKLAVVHFFDHASAALARKKGKSLHKDMAIFWHRKKISPNKKPFSLKEKKPGDGEVSPSTEDAPFQHSPLGKAAGRTGASSLLNKSSPVKKPSLLKAHQFEGDSFDSASEGSEGLGPCVLSLSTLIGTVAETSKEKYRLLDQRDRIMRQARVKRTDLDKARTFVGTCLDMCPEKERYMRETRSQLSVFEVVPGTDQVDHAAAVKEYSRSSADQEEPLPHELRPLPVLSRTMDYLVTQIMDQKEGSLRDWYDFVWNRTRGIRKDITQQHLCDPLTVSLIEKCTRFHIHCAHFMCEEPMSSFDAKINNENMTKCLQSLKEMYQDLRNKGVFCASEAEFQGYNVLLSLNKGDILREVQQFHPAVRNSSEVKFAVQAFAALNSNNFVRFFKLVQSASYLNACLLHCYFSQIRKDALRALNFAYTVSTQRSTIFPLDGVVRMLLFRDCEEATDFLTCHGLTVSDGCVELNRSAFLEPEGLSKTRKSVFITRKLTVSVGEIVNGGPLPPVPRHTPVCSFNSQNKYIGESLAAELPVSTQRPGSDTVGGGRGEECGVEPDAPLSSLPQSLPAPAPSPVPLPPVLALTPSVAPSLFQLSVQPEPPPPEPVPMYSDEDLAQVVDELIQEALQRDCEEVGSAGAAYAAAALGVSNAAMEDLLTAATTGILRHIAAEEVSKERERREQERQRAEEERLKQERELVLSELSQGLAVELMERVMMEFVRETCSQELKNAVETDQRVRVARCCEDVCAHLVDLFLVEEIFQTAKETLQELQCFCKYLQRWREAVTARKKLRRQMRAFPAAPCCVDVSDRLRALAPSAECPIAEENLARGLLDLGHAGRLGISCTRLRRLRNKTAHQMKVQHFYQQLLSDVAWASLDLPSLVAEHLPGRQEHVFWKLVLVLPDVEEQSPESCGRILANWLKVKFMGDEGSVDDTSSDAGGIQTLSLFNSLSSKGDQMISVNVCIKVAHGALSDGAIDAVETQKDLLGASGLMLLLPPKMKSEDMAEEDVYWLSALLQLKQLLQAKPFQPALPLVVLVPSPGGDAVEKEVEDGLMLQDLVSAKLISDYTVTEIPDTINDLQGSTKVLQAVQWLVSHCPHSLDLCCQTLIQYVEDGIGHEFSGRFFHDRRERRLGGLASQEPGAIIELFNSVLQFLASVVSSEQLCDLSWPVTEFAEAGGSRLLPHLHWNAPEHLAWLKQAVLGFQLPQMDLPPLGAPWLPVCSMVVQYASQIPSSRQTQPVLQSQVENLLHRTYCRWKSKSPSPVHGAGPSVMEIPWDDLIALCINHKLRDWTPPRLPVTSEALSEDGQICVYFFKNDLKKYDVPLSWEQARLQTQKELQLREGRLAIKPFHPSANNFPIPLLHMHRNWKRSTECAQEGRIPSTEDLMRGASAEELLAQCLSSSLLLEKEENKRFEDQLQQWLSEDSGAFTDLTSLPLYLPQTLVSLSHTIEPVMKTSVTTSPQSDMMREQLQLSEATGTCLGERLKHLERLIRSSREEEVASELHLSALLDMVDI", "length": 1980, "header": "sp|O60318-1|GANP_HUMAN Isoform 1 of Germinal-center associated nuclear protein OS=Homo sapiens OX=9606 GN=MCM3AP PE=1 SV=2 CANONICAL=O60318-1" }, "isoforms": [ { "isoform_ac": "A0A0A0MSZ7-1", "url": "", "sequence": { "sequence": "MNPTNPFSGQQPSAFSASSSNVGTLPSKPPFRFGQPSLFGQNSTLSGKSSGFSQVSSFPASSGVSHSSSVQTLGFTQTSSVGPFSGLEHTSTFV", "length": 94, "header": "tr|A0A0A0MSZ7-1|GANP_HUMAN Computationally mapped isoform of Germinal-center associated nuclear protein OS=Homo sapiens OX=9606 GN=MCM3AP PE=1 SV=1 CANONICAL=O60318-1" }, "locus": { "chromosome": "21", "start_pos": 46285286, "end_pos": 46285005, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000426537.1", "url": "https://www.ensembl.org/id/ENST00000426537.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000408934.1", "url": "https://www.ensembl.org/id/ENSP00000408934.1" } ] } }, { "isoform_ac": "O60318-1", "url": "", "sequence": { "sequence": "MNPTNPFSGQQPSAFSASSSNVGTLPSKPPFRFGQPSLFGQNSTLSGKSSGFSQVSSFPASSGVSHSSSVQTLGFTQTSSVGPFSGLEHTSTFVATSGPSSSSVLGNTGFSFKSPTSVGAFPSTSAFGQEAGEIVNSGFGKTEFSFKPLENAVFKPILGAESEPEKTQSQIASGFFTFSHPISSAPGGLAPFSFPQVTSSSATTSNFTFSKPVSSNNSLSAFTPALSNQNVEEEKRGPKSIFGSSNNSFSSFPVSSAVLGEPFQASKAGVRQGCEEAVSQVEPLPSLMKGLKRKEDQDRSPRRHGHEPAEDSDPLSRGDHPPDKRPVRLNRPRGGTLFGRTIQDVFKSNKEVGRLGNKEAKKETGFVESAESDHMAIPGGNQSVLAPSRIPGVNKEEETESREKKEDSLRGTPARQSNRSESTDSLGGLSPSEVTAIQCKNIPDYLNDRTILENHFGKIAKVQRIFTRRSKKLAVVHFFDHASAALARKKGKSLHKDMAIFWHRKKISPNKKPFSLKEKKPGDGEVSPSTEDAPFQHSPLGKAAGRTGASSLLNKSSPVKKPSLLKAHQFEGDSFDSASEGSEGLGPCVLSLSTLIGTVAETSKEKYRLLDQRDRIMRQARVKRTDLDKARTFVGTCLDMCPEKERYMRETRSQLSVFEVVPGTDQVDHAAAVKEYSRSSADQEEPLPHELRPLPVLSRTMDYLVTQIMDQKEGSLRDWYDFVWNRTRGIRKDITQQHLCDPLTVSLIEKCTRFHIHCAHFMCEEPMSSFDAKINNENMTKCLQSLKEMYQDLRNKGVFCASEAEFQGYNVLLSLNKGDILREVQQFHPAVRNSSEVKFAVQAFAALNSNNFVRFFKLVQSASYLNACLLHCYFSQIRKDALRALNFAYTVSTQRSTIFPLDGVVRMLLFRDCEEATDFLTCHGLTVSDGCVELNRSAFLEPEGLSKTRKSVFITRKLTVSVGEIVNGGPLPPVPRHTPVCSFNSQNKYIGESLAAELPVSTQRPGSDTVGGGRGEECGVEPDAPLSSLPQSLPAPAPSPVPLPPVLALTPSVAPSLFQLSVQPEPPPPEPVPMYSDEDLAQVVDELIQEALQRDCEEVGSAGAAYAAAALGVSNAAMEDLLTAATTGILRHIAAEEVSKERERREQERQRAEEERLKQERELVLSELSQGLAVELMERVMMEFVRETCSQELKNAVETDQRVRVARCCEDVCAHLVDLFLVEEIFQTAKETLQELQCFCKYLQRWREAVTARKKLRRQMRAFPAAPCCVDVSDRLRALAPSAECPIAEENLARGLLDLGHAGRLGISCTRLRRLRNKTAHQMKVQHFYQQLLSDVAWASLDLPSLVAEHLPGRQEHVFWKLVLVLPDVEEQSPESCGRILANWLKVKFMGDEGSVDDTSSDAGGIQTLSLFNSLSSKGDQMISVNVCIKVAHGALSDGAIDAVETQKDLLGASGLMLLLPPKMKSEDMAEEDVYWLSALLQLKQLLQAKPFQPALPLVVLVPSPGGDAVEKEVEDGLMLQDLVSAKLISDYTVTEIPDTINDLQGSTKVLQAVQWLVSHCPHSLDLCCQTLIQYVEDGIGHEFSGRFFHDRRERRLGGLASQEPGAIIELFNSVLQFLASVVSSEQLCDLSWPVTEFAEAGGSRLLPHLHWNAPEHLAWLKQAVLGFQLPQMDLPPLGAPWLPVCSMVVQYASQIPSSRQTQPVLQSQVENLLHRTYCRWKSKSPSPVHGAGPSVMEIPWDDLIALCINHKLRDWTPPRLPVTSEALSEDGQICVYFFKNDLKKYDVPLSWEQARLQTQKELQLREGRLAIKPFHPSANNFPIPLLHMHRNWKRSTECAQEGRIPSTEDLMRGASAEELLAQCLSSSLLLEKEENKRFEDQLQQWLSEDSGAFTDLTSLPLYLPQTLVSLSHTIEPVMKTSVTTSPQSDMMREQLQLSEATGTCLGERLKHLERLIRSSREEEVASELHLSALLDMVDI", "length": 1980, "header": "sp|O60318-1|GANP_HUMAN Isoform 1 of Germinal-center associated nuclear protein OS=Homo sapiens OX=9606 GN=MCM3AP PE=1 SV=2 CANONICAL=O60318-1" }, "locus": { "chromosome": "21", "start_pos": 46285286, "end_pos": 46235271, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000397708.1", "url": "https://www.ensembl.org/id/ENST00000397708.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000380820.1", "url": "https://www.ensembl.org/id/ENSP00000380820.1" } ] } }, { "isoform_ac": "O60318-2", "url": "", "sequence": { "sequence": "MRAFPAAPCCVDVSDRLRALAPSAECPIAEENLARGLLDLGHAGRLGISCTRLRRLRNKTAHQMKVQHFYQQLLSDVAWASLDLPSLVAEHLPGRQEHVFWKLVLVLPDVEEQSPESCGRILANWLKVKFMGDEGSVDDTSSDAGGIQTLSLFNSLSSKGDQMISVNVCIKVAHGALSDGAIDAVETQKDLLGASGLMLLLPPKMKSEDMAEEDVYWLSALLQLKQLLQAKPFQPALPLVVLVPSPGGDAVEKEVEDGLMLQDLVSAKLISDYTVTEIPDTINDLQGSTKVLQAVQWLVSHCPHSLDLCCQTLIQYVEDGIGHEFSGRFFHDRRERRLGGLASQEPGAIIELFNSVLQFLASVVSSEQLCDLSWPVTEFAEAGGSRLLPHLHWNAPEHLAWLKQAVLGFQLPQMDLPPLGAPWLPVCSMVVQYASQIPSSRQTQPVLQSQVENLLHRTYCRWKSKSPSPVHGAGPSVMEIPWDDLIALCINHKLRDWTPPRLPVTSEALSEDGQICVYFFKNDLKKYDVPLSWEQARLQTQKELQLREGRLAIKPFHPSANNFPIPLLHMHRNWKRSTECAQEGRIPSTEDLMRGASAEELLAQCLSSSLLLEKEENKRFEDQLQQWLSEDSGAFTDLTSLPLYLPQTLVSLSHTIEPVMKTSVTTSPQSDMMREQLQLSEATGTCLGERLKHLERLIRSSREEEVASELHLSALLDMVDI", "length": 721, "header": "sp|O60318-2|GANP_HUMAN Isoform 2 of Germinal-center associated nuclear protein OS=Homo sapiens OX=9606 GN=MCM3AP PE=1 SV=2 CANONICAL=O60318-1" }, "locus": {} } ], "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": 100, "start_aa": "Ser", "end_pos": 100, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser100", "evidence": [ { "id": "O60318", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60318" }, { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "33214551", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33214551" }, { "id": "35138101", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35138101" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "38253038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38253038" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "35132862", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35132862" }, { "id": "35083852", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35083852" }, { "id": "30620550", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30620550" }, { "id": "35289036", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35289036" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" }, { "id": "O60318", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O60318" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 114, "start_aa": "Ser", "end_pos": 114, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser114", "evidence": [ { "id": "O60318", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O60318" }, { "id": "34846842", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34846842" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 116, "start_aa": "Thr", "end_pos": 116, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr116", "evidence": [ { "id": "O60318", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60318" }, { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "33214551", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33214551" }, { "id": "35138101", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35138101" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "38253038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38253038" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "35132862", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35132862" }, { "id": "35083852", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35083852" }, { "id": "30620550", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30620550" }, { "id": "35289036", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35289036" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" }, { "id": "O60318", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O60318" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 117, "start_aa": "Ser", "end_pos": 117, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser117", "evidence": [ { "id": "O60318", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60318" }, { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "33214551", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33214551" }, { "id": "35138101", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35138101" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "38253038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38253038" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "35132862", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35132862" }, { "id": "35083852", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35083852" }, { "id": "30620550", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30620550" }, { "id": "35289036", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35289036" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" }, { "id": "O60318", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O60318" }, { "id": "32938750", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32938750" } ] }, { "glytoucan_ac": "G70994MS", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "", "start_pos": 117, "start_aa": "Ser", "end_pos": 117, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser117", "evidence": [ { "id": "GLY_000142", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000142" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 123, "start_aa": "Ser", "end_pos": 123, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser123", "evidence": [ { "id": "O60318", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60318" }, { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "33214551", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33214551" }, { "id": "35138101", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35138101" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "38253038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38253038" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "35132862", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35132862" }, { "id": "35083852", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35083852" }, { "id": "30620550", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30620550" }, { "id": "35289036", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35289036" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" 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"UniProtKB", "id": "O60318", "url": "https://www.uniprot.org/uniprot/O60318" } ], "reference": [ { "type": "PubMed", "id": "11024281", "url": "https://glygen.org/publication/PubMed/11024281" } ] }, { "title": "MCM3AP, a novel acetyltransferase that acetylates replication protein MCM3.", "journal": "EMBO reports", "date": "2001", "authors": "Takei Y, Swietlik M, Tanoue A, Tsujimoto G, Kouzarides T, Laskey R", "evidence": [ { "database": "UniProtKB", "id": "O60318", "url": "https://www.uniprot.org/uniprot/O60318" } ], "reference": [ { "type": "PubMed", "id": "11258703", "url": "https://glygen.org/publication/PubMed/11258703" } ] }, { "title": "The MCM3 acetylase MCM3AP inhibits initiation, but not elongation, of DNA replication via interaction with MCM3.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Takei Y, Assenberg M, Tsujimoto G, Laskey R", "evidence": [ { "database": "UniProtKB", "id": "O60318", "url": "https://www.uniprot.org/uniprot/O60318" } ], "reference": [ { "type": "PubMed", "id": "12226073", "url": "https://glygen.org/publication/PubMed/12226073" } ] }, { "title": "Functional interaction between the glucocorticoid receptor and GANP/MCM3AP.", "journal": "Biochem. Biophys. Res. Commun.", "date": "2006", "authors": "Osman Waffa, Laine Sanna, Zilliacus Johanna", "evidence": [ { "database": "UniProtKB", "id": "O60318", "url": "https://www.uniprot.org/uniprot/O60318" } ], "reference": [ { "type": "PubMed", "id": "16914116", "url": "https://glygen.org/publication/PubMed/16914116" } ] }, { "title": "The consensus coding sequences of human breast and colorectal cancers.", "journal": "Science (New York, N.Y.)", "date": "2006", "authors": "Sjoblom T, Jones S, Wood LD, Parsons DW, Lin J, Barber TD, Mandelker D, Leary RJ, Ptak J, Silliman N, Szabo S, Buckhaults P, Farrell C, Meeh P, Markowitz SD, Willis J, Dawson D, Willson JK, Gazdar AF, Hartigan J, Wu L, Liu C, Parmigiani G, Park BH, Bachman KE, Papadopoulos N, Vogelstein B, Kinzler KW, Velculescu VE", "evidence": [ { "database": "UniProtKB", "id": "O60318", "url": "https://www.uniprot.org/uniprot/O60318" } ], "reference": [ { "type": "PubMed", "id": "16959974", "url": "https://glygen.org/publication/PubMed/16959974" } ] }, { "title": "Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis.", "journal": "Journal of proteome research", "date": "2008", "authors": "Cantin GT, Yi W, Lu B, Park SK, Xu T, Lee JD, Yates JR 3rd", "evidence": [ { "database": "iPTMnet", "id": "O60318", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60318" } ], "reference": [ { "type": "PubMed", "id": "18220336", "url": "https://glygen.org/publication/PubMed/18220336" } ] }, { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "O60318", "url": "https://www.uniprot.org/uniprot/O60318" }, { "database": "iPTMnet", "id": "O60318-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60318-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Immobilized metal affinity chromatography revisited: pH/acid control toward high selectivity in phosphoproteomics.", "journal": "Journal of proteome research", "date": "2008", "authors": "Tsai CF, Wang YT, Chen YR, Lai CY, Lin PY, Pan KT, Chen JY, Khoo KH, Chen YJ", "evidence": [ { "database": "iPTMnet", "id": "O60318-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60318-1" } ], "reference": [ { "type": "PubMed", "id": "18707149", "url": "https://glygen.org/publication/PubMed/18707149" } ] }, { "title": "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.", "journal": "Analytical chemistry", "date": "2009", "authors": "Gauci S, Helbig AO, Slijper M, Krijgsveld J, Heck AJ, Mohammed S", "evidence": [ { "database": "iPTMnet", "id": "O60318-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60318-1" } ], "reference": [ { "type": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" } ] }, { "title": "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.", "journal": "Science signaling", "date": "2009", "authors": "Mayya V, Lundgren DH, Hwang SI, Rezaul K, Wu L, Eng JK, Rodionov V, Han DK", "evidence": [ { "database": "UniProtKB", "id": "O60318", "url": "https://www.uniprot.org/uniprot/O60318" }, { "database": "iPTMnet", "id": "O60318", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60318" } ], "reference": [ { "type": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" } ] }, { "title": "mRNA export from mammalian cell nuclei is dependent on GANP.", "journal": "Current biology : CB", "date": "2010-01-12", "authors": "Wickramasinghe Vihandha O, McMurtrie Paul I A, Mills Anthony D, Takei Yoshinori, Penrhyn-Lowe Sue, Amagase Yoko, Main Sarah, Marr Jackie, Stewart Murray, Laskey Ronald A", "evidence": [ { "database": "UniProtKB", "id": "O60318", "url": "https://www.uniprot.org/uniprot/O60318" } ], "reference": [ { "type": "PubMed", "id": "20005110", "url": "https://glygen.org/publication/PubMed/20005110" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "UniProtKB", "id": "O60318", "url": "https://www.uniprot.org/uniprot/O60318" }, { "database": "iPTMnet", "id": "O60318-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60318-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "title": "Germinal center-associated nuclear protein (GANP) is involved in mRNA export of Shugoshin-1 required for centromere cohesion and in sister-chromatid exchange.", "journal": "Genes to cells : devoted to molecular & cellular mechanisms", "date": "2010-05", "authors": "Okamoto Nobukazu, Kuwahara Kazuhiko, Ohta Kazutaka, Kitabatake Masahiro, Takagi Katsumasa, Mizuta Hiroshi, Kondo Eisaku, Sakaguchi Nobuo", "evidence": [ { "database": "UniProtKB", "id": "O60318", "url": "https://www.uniprot.org/uniprot/O60318" } ], "reference": [ { "type": "PubMed", "id": "20384790", "url": "https://glygen.org/publication/PubMed/20384790" } ] }, { "title": "GANP-mediated recruitment of activation-induced cytidine deaminase to cell nuclei and to immunoglobulin variable region DNA.", "journal": "J. Biol. Chem.", "date": "2010", "authors": "Maeda K, Singh SK, Eda K, Kitabatake M, Pham P, Goodman MF, Sakaguchi N", "evidence": [ { "database": "UniProtKB", "id": "O60318", "url": "https://www.uniprot.org/uniprot/O60318" } ], "reference": [ { "type": "PubMed", "id": "20507984", "url": "https://glygen.org/publication/PubMed/20507984" } ] }, { "title": "MCM3AP is transcribed from a promoter within an intron of the overlapping gene for GANP.", "journal": "J. Mol. Biol.", "date": "2011", "authors": "Wickramasinghe Vihandha O, McMurtrie Paul I A, Marr Jackie, Amagase Yoko, Main Sarah, Mills Anthony D, Laskey Ronald A, Takei Yoshinori", "evidence": [ { "database": "UniProtKB", "id": "O60318", "url": "https://www.uniprot.org/uniprot/O60318" } ], "reference": [ { "type": "PubMed", "id": "21195085", "url": "https://glygen.org/publication/PubMed/21195085" } ] }, { "title": "Functional and structural characterization of the mammalian TREX-2 complex that links transcription with nuclear messenger RNA export.", "journal": "Nucleic acids research", "date": "2012", "authors": "Jani D, Lutz S, Hurt E, Laskey RA, Stewart M, Wickramasinghe VO", "evidence": [ { "database": "UniProtKB", "id": "O60318", "url": "https://www.uniprot.org/uniprot/O60318" } ], "reference": [ { "type": "PubMed", "id": "22307388", "url": "https://glygen.org/publication/PubMed/22307388" } ] }, { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "O60318", "url": "https://www.uniprot.org/uniprot/O60318" }, { "database": "iPTMnet", "id": "O60318", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60318" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "Proteome wide purification and identification of O-GlcNAc-modified proteins using click chemistry and mass spectrometry.", "journal": "Journal of proteome research", "date": "2013", "authors": "Hahne H, Sobotzki N, Nyberg T, Helm D, Borodkin VS, van Aalten DM, Agnew B, Kuster B", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60318", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60318" } ], "reference": [ { "type": "PubMed", "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498" } ] }, { "title": "Exome and whole-genome sequencing of esophageal adenocarcinoma identifies recurrent driver events and mutational complexity.", "journal": "Nature genetics", "date": "2013", "authors": "Dulak AM, Stojanov P, Peng S, Lawrence MS, Fox C, Stewart C, Bandla S, Imamura Y, Schumacher SE, Shefler E, McKenna A, Carter SL, Cibulskis K, Sivachenko A, Saksena G, Voet D, Ramos AH, Auclair D, Thompson K, Sougnez C, Onofrio RC, Guiducci C, Beroukhim R, Zhou Z, Lin L, Lin J, Reddy R, Chang A, Landrenau R, Pennathur A, Ogino S, Luketich JD, Golub TR, Gabriel SB, Lander ES, Beer DG, Godfrey TE, Getz G, Bass AJ", "evidence": [ { "database": "dbSNP", "id": "rs202234966", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs202234966" } ], "reference": [ { "type": "PubMed", "id": "23525077", "url": "https://glygen.org/publication/PubMed/23525077" } ] }, { "title": "The human TREX-2 complex is stably associated with the nuclear pore basket.", "journal": "Journal of cell science", "date": "2013", "authors": "Umlauf D, Bonnet J, Waharte F, Fournier M, Stierle M, Fischer B, Brino L, Devys D, Tora L", "evidence": [ { "database": "UniProtKB", "id": "O60318", "url": "https://www.uniprot.org/uniprot/O60318" } ], "reference": [ { "type": "PubMed", "id": "23591820", "url": "https://glygen.org/publication/PubMed/23591820" } ] }, { "title": "GANP regulates recruitment of AID to immunoglobulin variable regions by modulating transcription and nucleosome occupancy.", "journal": "Nature communications", "date": "2013", "authors": "Singh SK, Maeda K, Eid MM, Almofty SA, Ono M, Pham P, Goodman MF, Sakaguchi N", "evidence": [ { "database": "UniProtKB", "id": "O60318", "url": "https://www.uniprot.org/uniprot/O60318" } ], "reference": [ { "type": "PubMed", "id": "23652018", "url": "https://glygen.org/publication/PubMed/23652018" } ] }, { "title": "Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing.", "journal": "Journal of medical genetics", "date": "2013", "authors": "Schuurs-Hoeijmakers JH, Vulto-van Silfhout AT, Vissers LE, van de Vondervoort II, van Bon BW, de Ligt J, Gilissen C, Hehir-Kwa JY, Neveling K, del Rosario M, Hira G, Reitano S, Vitello A, Failla P, Greco D, Fichera M, Galesi O, Kleefstra T, Greally MT, Ockeloen CW, Willemsen MH, Bongers EM, Janssen IM, Pfundt R, Veltman JA, Romano C, Willemsen MA, van Bokhoven H, Brunner HG, de Vries BB, de Brouwer AP", "evidence": [ { "database": "UniProtKB", "id": "O60318", "url": "https://www.uniprot.org/uniprot/O60318" } ], "reference": [ { "type": "PubMed", "id": "24123876", "url": "https://glygen.org/publication/PubMed/24123876" } ] }, { "title": "MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability.", "journal": "Brain : a journal of neurology", "date": "2017", "authors": "Ylikallio E, Woldegebriel R, Tumiati M, Isohanni P, Ryan MM, Stark Z, Walsh M, Sawyer SL, Bell KM, Oshlack A, Lockhart PJ, Shcherbii M, Estrada-Cuzcano A, Atkinson D, Hartley T, Tetreault M, Cuppen I, van der Pol WL, Candayan A, Battaloglu E, Parman Y, van Gassen KLI, van den Boogaard MH, Boycott KM, Kauppi L, Jordanova A, Lonnqvist T, Tyynismaa H", "evidence": [ { "database": "UniProtKB", "id": "O60318", "url": "https://www.uniprot.org/uniprot/O60318" } ], "reference": [ { "type": "PubMed", "id": "28633435", "url": "https://glygen.org/publication/PubMed/28633435" } ] }, { "title": "Biallelic MCM3AP mutations cause Charcot-Marie-Tooth neuropathy with variable clinical presentation.", "journal": "Brain : a journal of neurology", "date": "2017", "authors": "Karakaya M, Mazaheri N, Polat I, Bharucha-Goebel D, Donkervoort S, Maroofian R, Shariati G, Hoelker I, Monaghan K, Winchester S, Zori R, Galehdari H, Bonnemann CG, Yis U, Wirth B", "evidence": [ { "database": "UniProtKB", "id": "O60318", "url": "https://www.uniprot.org/uniprot/O60318" } ], "reference": [ { "type": "PubMed", "id": "28969388", "url": "https://glygen.org/publication/PubMed/28969388" } ] }, { "title": "Mapping and Quantification of Over 2000 O-linked Glycopeptides in Activated Human T Cells with Isotope-Targeted Glycoproteomics (Isotag).", "journal": "Molecular & cellular proteomics : MCP", "date": "2018", "authors": "Woo CM, Lund PJ, Huang AC, Davis MM, Bertozzi CR, Pitteri SJ", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60318", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60318" }, { "database": "O-GlcNAc Atlas", "id": "O60318", "url": "https://oglcnac.org/atlas/detail/O60318" }, { "database": "GlyGen", "id": "GLY_000142", "url": "https://data.glygen.org/GLY_000142" } ], "reference": [ { "type": "PubMed", "id": "29351928", "url": "https://glygen.org/publication/PubMed/29351928" } ] }, { "title": "A novel MCM3AP mutation in a Lebanese family with recessive Charcot-Marie-Tooth neuropathy.", "journal": "Brain : a journal of neurology", "date": "2018", "authors": "Kennerson ML, Corbett AC, Ellis M, Perez-Siles G, Nicholson GA", "evidence": [ { "database": "UniProtKB", "id": "O60318", "url": "https://www.uniprot.org/uniprot/O60318" } ], "reference": [ { "type": "PubMed", "id": "29982295", "url": "https://glygen.org/publication/PubMed/29982295" } ] }, { "title": "A triarylphosphine-trimethylpiperidine reagent for the one-step derivatization and enrichment of protein post-translational modifications and identification by mass spectrometry.", "journal": "Chemical communications (Cambridge, England)", "date": "2018", "authors": "Huo B, Zhang W, Zhao X, Dong H, Yu Y, Wang J, Qian X, Qin W", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60318", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60318" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "title": "An Isotope-Coded Photocleavable Probe for Quantitative Profiling of Protein O-GlcNAcylation.", "journal": "ACS chemical biology", "date": "2019", "authors": "Li J, Li Z, Duan X, Qin K, Dang L, Sun S, Cai L, Hsieh-Wilson LC, Wu L, Yi W", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60318", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60318" }, { "database": "O-GlcNAc Atlas", "id": "O60318", "url": "https://oglcnac.org/atlas/detail/O60318" } ], "reference": [ { "type": "PubMed", "id": "30620550", "url": "https://glygen.org/publication/PubMed/30620550" } ] }, { "title": "Distinct effects on mRNA export factor GANP underlie neurological disease phenotypes and alter gene expression depending on intron content.", "journal": "Human molecular genetics", "date": "2020", "authors": "Woldegebriel R, Kvist J, Andersson N, Ounap K, Reinson K, Wojcik MH, Bijlsma EK, Hoffer MJV, Ryan MM, Stark Z, Walsh M, Cuppen I, van den Boogaard MH, Bharucha-Goebel D, Donkervoort S, Winchester S, Zori R, Bonnemann CG, Maroofian R, O'Connor E, Houlden H, Zhao F, Carpen O, White M, Sreedharan J, Stewart M, Ylikallio E, Tyynismaa H", "evidence": [ { "database": "RefSeq", "id": "NP_003897", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003897" } ], "reference": [ { "type": "PubMed", "id": "32202298", "url": "https://glygen.org/publication/PubMed/32202298" } ] }, { "title": "Genetic spectrum of MCM3AP and its relationship with phenotype of Charcot-Marie-Tooth disease.", "journal": "Journal of the peripheral nervous system : JPNS", "date": "2020", "authors": "Dong HL, Wei Q, Li JQ, Li HF, Bai G, Ma H, Wu ZY", "evidence": [ { "database": "RefSeq", "id": "NP_003897", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003897" } ], "reference": [ { "type": "PubMed", "id": "32319184", "url": "https://glygen.org/publication/PubMed/32319184" } ] }, { "title": "The critical role of germinal center-associated nuclear protein in cell biology, immunohematology, and hematolymphoid oncogenesis.", "journal": "Experimental hematology", "date": "2020", "authors": "Sakai Y, Phimsen S, Okada S, Kuwahara K", "evidence": [ { "database": "RefSeq", "id": "NP_003897", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003897" } ], "reference": [ { "type": "PubMed", "id": "32827560", "url": "https://glygen.org/publication/PubMed/32827560" } ] }, { "title": "Methods for Enrichment and Assignment of N-Acetylglucosamine Modification Sites.", "journal": "Molecular & cellular proteomics : MCP", "date": "2021", "authors": "Maynard JC, Chalkley RJ", "evidence": [ { "database": "O-GlcNAc Atlas", "id": "O60318", "url": "https://oglcnac.org/atlas/detail/O60318" } ], "reference": [ { "type": "PubMed", "id": "32938750", "url": "https://glygen.org/publication/PubMed/32938750" } ] }, { "title": "Long noncoding RNA MCM3AP antisense RNA 1 is downregulated in chronic obstructive pulmonary disease and regulates human bronchial smooth muscle cell proliferation.", "journal": "The Journal of international medical research", "date": "2020", "authors": "Zhao K, Tu C, Liang K, Li Y, Yu Y", "evidence": [ { "database": "RefSeq", "id": "NP_003897", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003897" } ], "reference": [ { "type": "PubMed", "id": "32940099", "url": "https://glygen.org/publication/PubMed/32940099" } ] }, { "title": "Proteomic profiling and genome-wide mapping of O-GlcNAc chromatin-associated proteins reveal an O-GlcNAc-regulated genotoxic stress response.", "journal": "Nature communications", "date": "2020", "authors": "Liu Y, Chen Q, Zhang N, Zhang K, Dou T, Cao Y, Liu Y, Li K, Hao X, Xie X, Li W, Ren Y, Zhang J", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60318", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60318" } ], "reference": [ { "type": "PubMed", "id": "33214551", "url": "https://glygen.org/publication/PubMed/33214551" } ] }, { "title": "O-GlcNAc modification regulates MTA1 transcriptional activity during breast cancer cell genotoxic adaptation.", "journal": "Biochimica et biophysica acta. General subjects", "date": "2021", "authors": "Xie X, Wu Q, Zhang K, Liu Y, Zhang N, Chen Q, Wang L, Li W, Zhang J, Liu Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60318", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60318" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "Highly Efficient Enrichment of O-GlcNAc Glycopeptides Based on Chemical Oxidation and Reversible Hydrazide Chemistry.", "journal": "Analytical chemistry", "date": "2021", "authors": "Chen Y, Qin H, Yue X, Zhou J, Liu L, Nie Y, Ye M", "evidence": [ { "database": "O-GlcNAc Atlas", "id": "O60318", "url": "https://oglcnac.org/atlas/detail/O60318" } ], "reference": [ { "type": "PubMed", "id": "34846842", "url": "https://glygen.org/publication/PubMed/34846842" } ] }, { "title": "O-GlcNAcylation promotes fatty acid synthase activity under nutritional stress as a pro-survival mechanism in cancer cells.", "journal": "Proteomics", "date": "2022", "authors": "Wong YK, Wang J, Lim TK, Lin Q, Yap CT, Shen HM", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60318", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60318" } ], "reference": [ { "type": "PubMed", "id": "35083852", "url": "https://glygen.org/publication/PubMed/35083852" } ] }, { "title": "Simultaneously Identifying and Distinguishing Glycoproteins with O-GlcNAc and O-GalNAc (the Tn Antigen) in Human Cancer Cells.", "journal": "Analytical chemistry", "date": "2022", "authors": "Xu S, Zheng J, Xiao H, Wu R", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60318", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60318" } ], "reference": [ { "type": "PubMed", "id": "35132862", "url": "https://glygen.org/publication/PubMed/35132862" } ] }, { "title": "Spatiotemporal Activation of Protein O-GlcNAcylation in Living Cells.", "journal": "Journal of the American Chemical Society", "date": "2022", "authors": "He J, Fan Z, Tian Y, Yang W, Zhou Y, Zhu Q, Zhang W, Qin W, Yi W", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60318", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60318" } ], "reference": [ { "type": "PubMed", "id": "35138101", "url": "https://glygen.org/publication/PubMed/35138101" } ] }, { "title": "An Optimized Isotopic Photocleavable Tagging Strategy for Site-Specific and Quantitative Profiling of Protein O-GlcNAcylation in Colorectal Cancer Metastasis.", "journal": "ACS chemical biology", "date": "2022", "authors": "Liu J, Hao Y, Wang C, Jin Y, Yang Y, Gu J, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60318", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60318" } ], "reference": [ { "type": "PubMed", "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053" } ] }, { "title": "Endo-M Mediated Chemoenzymatic Approach Enables Reversible Glycopeptide Labeling for O-GlcNAcylation Analysis.", "journal": "Angewandte Chemie (International ed. in English)", "date": "2022", "authors": "Chen Y, Tang F, Qin H, Yue X, Nie Y, Huang W, Ye M", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60318", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60318" } ], "reference": [ { "type": "PubMed", "id": "35289036", "url": "https://glygen.org/publication/PubMed/35289036" } ] }, { "title": "Two Cases of Periodic Paralysis Associated With MCM3AP Variants.", "journal": "Journal of clinical neuromuscular disease", "date": "2023-09-01", "authors": "Oishi Tatsuya, Pagano Jennifer, Sellers Cody, Jerath Nivedita U", "evidence": [ { "database": "RefSeq", "id": "NP_003897", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003897" } ], "reference": [ { "type": "PubMed", "id": "37611268", "url": "https://glygen.org/publication/PubMed/37611268" } ] }, { "title": "Studying the O-GlcNAcome of human placentas using banked tissue samples.", "journal": "Glycobiology", "date": "2024-01-22", "authors": "Luna Sarai, Malard Florian, Pereckas Michaela, Aoki Mayumi, Aoki Kazahiro, Olivier-Van Stichelen Stephanie", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60318", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60318" } ], "reference": [ { "type": "PubMed", "id": "38253038", "url": "https://glygen.org/publication/PubMed/38253038" } ] }, { "title": "Identification of a novel MCM3-associated protein that facilitates MCM3 nuclear localization.", "journal": "J. Biol. Chem.", "date": "1998", "authors": "Takei Y, Tsujimoto G", "evidence": [ { "database": "UniProtKB", "id": "O60318", "url": "https://www.uniprot.org/uniprot/O60318" } ], "reference": [ { "type": "PubMed", "id": "9712829", "url": "https://glygen.org/publication/PubMed/9712829" } ] } ], "pathway": [ { "id": "hsa:8888", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:8888", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "A0A0G2JV99-1", "protein_name": "Minichromosome maintenance complex component 3 associated protein", "gene_name": "Mcm3ap", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MNPVNPFSGQQPGAFAVSSSATGTFQTKSPFRFGQPSLFGQNNQASKSLGFSQVPSFATPSGGSHSSSLPAFGLTQTSSVGLFSGLESTPSFAATSGPSSSSVPGNTAFSFKSASSVGVFSSGPTFGPETGDVAGSGFRKTEFKFKPLENAVFKPILGAESEPEKTQSQIASGFFTFSHPVSSGSGGLTPFSFPQVTNSSATSSSFIFSKPVTSNTSAFAPALSNQNIEEEKRGPKSVFGGLNSSFSTFPMASPGSLGEPFPTNKTSIRQGGEEAISQVESHPALMKGLKRKEDQDRSPRRHCHEAAEDSDPLSRGDHPPDKRPVRLNRPRGGTLFGRTIQEVFKSNKEAGRLGSKESKKDSGFVESGESDHVAIPGGSQSTLVTSRLPAVNKEEETEGRDEKEDSLRGTSVRQSKRSESTDSLGGMSSLELTAIQCKNIPDYLNDRAILEKHFSKIAKVQRVFTRRSKKLAVIHFFDHASAALARKKGKGLHKDMAIFWHKKKISPSKKPFSLKEKQLGEGEASQGIEDSPFQHSPLGKPIVRPATGSLLNKSSPVKKPGLLKIHQFEADPFDSGSEGSEGLGSCVSSLSTLIGTVADTSEEKYRLLDQRDRIMRQARVKRTDLDKARAFVGTCPDMCPEKERYLRETRSQLSVFEVVPGTDQVDHAAAVKEYSRSSADQEEPLPHELRPSAVLSRTMDYLVTQIMDQKEGSLRDWYDFVWNRTRGIRKDITQQHLCDPLTVSLIEKCTRFHIHCAHFMCEEPMSSFDAKINNENMTKCLQSLKEMYQDLRNKGVFCASEAEFQGYNVLLNLNKGDILREVQQFHPDVRNSPEVDFAVQAFAALNSNNFVRFFKLVQSASYLNACLLHCYFNQIRKDALRALNVAYTVSTQRSTVFPLDGVVRMLLFRDCEEATSFLNYHGLTVADGCVELNRSAFLEPEGLYKARKSVFIGRKLTVSVGEVVNGGPLPPVPRHTPVCSFNSQNKYVGESLATELPISAQRSGGDSAGGGRGEEVEAEVDVPPLAVLPQLPPAPSATPVPHVQPLTQAVTPSLFQASTQPEVLLPKPVPVYSDSDLVQVVDELIQEALQVDCEEVSSAGAAYVAAALGVSNAAVEDLITAATTGILRHVAAEEVSMERQRVEEEKRRAEEERLKQERELMLTQLSKGLAAELTELTVTECVWETCSQELKSAVETDQKVRVARCCEAVCTHLVDLFLAEEIFQTAKETLQELQCFCKYLQRWRGAVAARKKLRRQMRAFPAAPCCVDVNDRLQALVPSAECPITEENLAKGLLDLGHAGKVGISCTRLRRLRNKTAHQMKVQHFHQQLLSNAAWAPLDLPSFVAEHLPVKQKRIFWKLVLVLPDGEEQTPESPGRILENWLKVKFTGDGSLVDDTRDNAGDIQTLSVFNTLSSKGDQTVSVNVCIKVARGTLSDSALDAVETRKDLLGASGLMLLLPPKVKSEDVAEEDLYWLSALLQLKQLLQAKPFQPALPLVVLVPSSRGDSTGKGVEDGLMLQDLISAKLISDYIVVEIPDFVNDLHGTVKVSGAVQWLISRCPQALDLCCQTLIQYVEDGISREFSGRFFHDRRERRLGSLASQEPSAIIELFNSVLQFLASVVSSEQLGDISWPVTEFAEVGGSQLLPHLHWNSPEHLAWLKQAVLGFQLPQMDLPPPAALWLPVCSMVIQYTSQIPSSCRTQPVLRSQVESLLCRTYQKWKSKSLCPGQQSGPSVAEIPWDDIITLCINHKLRDWTPPRLPVTLDALSEDGQICVYFFKNRLRKYTVPLSWEQARMQTQRELQLSQGCSGIKSFHPTSSFPTPLLHGRHKGKKKEDGGREGSLSTEDLLRGASAEELLAQCLNNSLLEEREENKRFEDQLQQWLSRDSQAFTESARLPLYLPQTLVSYPDAIKTQTKVKTSTSPQNAGTGDHVRFSEASDTSLTEKLKHLERLIQSSRAEEAASELHLSALLDMVDI", "length": 1975 }, "evidence": [ { "id": "45919396", "url": "http://www.informatics.jax.org/homology/45919396", "database": "MGI" }, { "id": "O60318", "url": "https://omabrowser.org/oma/group/O60318/", "database": "OMA" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q9WUU9-1", "protein_name": "Germinal-center associated nuclear protein", "gene_name": "Mcm3ap", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MHPVNPFGGQQPSAFAVSSSTTGTYQTKSPFRFGQPSLFGQNSTPSKSLAFSQVPSFATPSGGSHSSSLPAFGLTQTSSVGLFSSLESTPSFAATSSSSVPGNTAFSFKSTSSVGVFPSGATFGPETGEVAGSGFRKTEFKFKPLENAVFKPIPGPESEPEKTQSQISSGFFTFSHPVGSGSGGLTPFSFPQVTNSSVTSSSFIFSKPVTSNTPAFASPLSNQNVEEEKRVSTSAFGSSNSSFSTFPTASPGSLGEPFPANKPSLRQGCEEAISQVEPLPTLMKGLKRKEDQDRSPRRHCHEAAEDPDPLSRGDHPPDKRPVRLNRPRGGTLFGRTIQEVFKSNKEAGRLGSKESKESGFAEPGESDHAAVPGGSQSTMVPSRLPAVTKEEEESRDEKEDSLRGKSVRQSKRREEWIYSLGGVSSLELTAIQCKNIPDYLNDRAILEKHFSKIAKVQRVFTRRSKKLAVIHFFDHASAALARKKGKGLHKDVVIFWHKKKISPSKKLFPLKEKLGESEASQGIEDSPFQHSPLSKPIVRPAAGSLLSKSSPVKKPSLLKMHQFEADPFDSGSEGSEGLGSCVSSLSTLIGTVADTSEEKYRLLDQRDRIMRQARVKRTDLDKARAFVGTCPDMCPEKERYLRETRSQLSVFEVVPGTDQVDHAAAVKEYSRSSADQEEPLPHELRPSAVLSRTMDYLVTQIMDQKEGSLRDWYDFVWNRTRGIRKDITQQHLCDPLTVSLIEKCTRFHIHCAHFMCEEPMSSFDAKINNENMTKCLQSLKEMYQDLRNKGVFCASEAEFQGYNVLLNLNKGDILREVQQFHPDVRNSPEVNFAVQAFAALNSNNFVRFFKLVQSASYLNACLLHCYFNQIRKDALRALNVAYTVSTQRSTVFPLDGVVRMLLFRDSEEATNFLNYHGLTVADGCVELNRSAFLEPEGLCKARKSVFIGRKLTVSVGEVVNGGPLPPVPRHTPVCSFNSQNKYVGESLATELPISTQRAGGDPAGGGRGEDCEAEVDVPTLAVLPQPPPASSATPALHVQPLAPAAAPSLLQASTQPEVLLPKPAPVYSDSDLVQVVDELIQEALQVDCEEVSSAGAAYVAAALGVSNAAVEDLITAATTGILRHVAAEEVSMERQRLEEEKQRAEEERLKQERELMLTQLSEGLAAELTELTVTECVWETCSQELQSAVEIDQKVRVARCCEAVCAHLVDLFLAEEIFQTAKETLQELQCFCKYLQRWREAVAARKKFRRQMRAFPAAPCCVDVNDRLQALVPSAECPITEENLAKGLLDLGHAGKVGVSCTRLRRLRNKTAHQIKVQHFHQQLLRNAAWAPLDLPSIVSEHLPMKQKRRFWKLVLVLPDVEEQTPESPGRILENWLKVKFTGDDSMVGDIGDNAGDIQTLSVFNTLSSKGDQTVSVNVCIKVAHGTLSDSALDAVETQKDLLGTSGLMLLLPPKVKSEEVAEEELSWLSALLQLKQLLQAKPFQPALPLVVLVPSSRGDSAGRAVEDGLMLQDLVSAKLISDYIVVEIPDSVNDLQGTVKVSGAVQWLISRCPQALDLCCQTLVQYVEDGISREFSRRFFHDRRERRLASLPSQEPSTIIELFNSVLQFLASVVSSEQLCDISWPVMEFAEVGGSQLLPHLHWNSPEHLAWLKQAVLGFQLPQMDLPPPGAPWLPVCSMVIQYTSQIPSSSQTQPVLQSQVENLLCRTYQKWKNKSLSPGQELGPSVAEIPWDDIITLCINHKLRDWTPPRLPVTLEALSEDGQICVYFFKNLLRKYHVPLSWEQARMQTQRELQLSHGRSGMRSIHPPTSTFPTPLLHVHQKGKKKEESGREGSLSTEDLLRGASAEELLAQSLSSSLLEEKEENKRFEDQLQQWLSQDSQAFTESTRLPLYLPQTLVSFPDSIKTQTMVKTSTSPQNSGTGKQLRFSEASGSSLTEKLKLLERLIQSSRAEEAASELHLSALLEMVDM", "length": 1971 }, "evidence": [ { "id": "45919396", "url": "http://www.informatics.jax.org/homology/45919396", "database": "MGI" }, { "id": "O60318", "url": "https://omabrowser.org/oma/group/O60318/", "database": "OMA" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Biological Process", "total": 5, "go_terms": [ { "name": "poly(A)+ mRNA export from nucleus", "id": "GO:0016973", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016973", "evidence": [ { "database": "UniProtKB", "id": "O60318", "url": "https://www.uniprot.org/uniprot/O60318" } ], "pmid": "" }, { "name": "nucleosome organization", "id": "GO:0034728", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034728", "evidence": [ { "database": "UniProtKB", "id": "O60318", "url": "https://www.uniprot.org/uniprot/O60318" } ], "pmid": "" }, { "name": "mRNA export from nucleus", "id": "GO:0006406", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006406", "evidence": [ { "database": "UniProtKB", "id": "O60318", "url": "https://www.uniprot.org/uniprot/O60318" } ], "pmid": "" }, { "name": "protein transport", "id": "GO:0015031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015031", "evidence": [ { "database": "UniProtKB", "id": "O60318", "url": "https://www.uniprot.org/uniprot/O60318" } ], "pmid": "" }, { "name": "somatic hypermutation of immunoglobulin genes", "id": "GO:0016446", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016446", "evidence": [ { "database": "UniProtKB", "id": "O60318", "url": "https://www.uniprot.org/uniprot/O60318" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 8, "go_terms": [ { "name": "nuclear pore nuclear basket", "id": "GO:0044615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044615", "evidence": [ { "database": "UniProtKB", "id": "O60318", "url": "https://www.uniprot.org/uniprot/O60318" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "O60318", "url": "https://www.uniprot.org/uniprot/O60318" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "O60318", "url": "https://www.uniprot.org/uniprot/O60318" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "O60318", "url": "https://www.uniprot.org/uniprot/O60318" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "O60318", "url": "https://www.uniprot.org/uniprot/O60318" } ], "pmid": "" }, { "name": "nuclear membrane", "id": "GO:0031965", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031965", "evidence": [ { "database": "UniProtKB", "id": "O60318", "url": "https://www.uniprot.org/uniprot/O60318" } ], "pmid": "" }, { "name": "chromosome", "id": "GO:0005694", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005694", "evidence": [ { "database": "UniProtKB", "id": "O60318", "url": "https://www.uniprot.org/uniprot/O60318" } ], "pmid": "" }, { "name": "transcription export complex 2", "id": "GO:0070390", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070390", "evidence": [ { "database": "UniProtKB", "id": "O60318", "url": "https://www.uniprot.org/uniprot/O60318" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 5, "go_terms": [ { "name": "chromatin binding", "id": "GO:0003682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003682", "evidence": [ { "database": "UniProtKB", "id": "O60318", "url": "https://www.uniprot.org/uniprot/O60318" } ], "pmid": "" }, { "name": "nucleic acid binding", "id": "GO:0003676", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003676", "evidence": [ { "database": "UniProtKB", "id": "O60318", "url": "https://www.uniprot.org/uniprot/O60318" } ], "pmid": "" }, { "name": "histone binding", "id": "GO:0042393", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042393", "evidence": [ { "database": "UniProtKB", "id": "O60318", "url": "https://www.uniprot.org/uniprot/O60318" } ], "pmid": "" }, { "name": "histone acetyltransferase activity", "id": "GO:0004402", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004402", "evidence": [ { "database": "UniProtKB", "id": "O60318", "url": "https://www.uniprot.org/uniprot/O60318" } ], "pmid": "" }, { "name": "histone H3 acetyltransferase activity", "id": "GO:0010484", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010484", "evidence": [ { "database": "UniProtKB", "id": "O60318", "url": "https://www.uniprot.org/uniprot/O60318" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 1317, "end_pos": 1319, "annotation": "n_glycosylation_sequon" }, { "start_pos": 206, "end_pos": 208, "annotation": "n_glycosylation_sequon" }, { "start_pos": 216, "end_pos": 218, "annotation": 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