{ "uniprot_canonical_ac": "A0AV96-1", "uniprot_ac": "A0AV96", "uniprot_id": "RBM47_HUMAN", "mass": { "chemical_mass": 64099.0, "monoisotopic_mass": 64099.0 }, "refseq": { "ac": "NP_001092104", "name": "RNA-binding protein 47 isoform a", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001092104" }, "gene_names": [ { "name": "RBM47", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/A0AV96", "id": "A0AV96" }, { "name": "NET18", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001092104", "id": "NP_001092104" }, { "name": "RBM47", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001092104", "id": "NP_001092104" } ], "protein_names": [ { "name": "RNA-binding protein 47", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "A0AV96" }, { "name": "RNA-binding motif protein 47", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "A0AV96" }, { "name": "RNA-binding protein 47 isoform a", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001092104", "id": "NP_001092104" }, { "name": "RNA-binding protein 47", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001092104", "id": "NP_001092104" } ], "function": [ { "annotation": "RBM47 regulates intestinal injury and tumorigenesis by modifying proliferation, oxidative response, and inflammatory pathways. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001092104", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001092104" }, { "database": "PubMed", "id": "37014710", "url": "https://glygen.org/publication/PubMed/37014710" } ] }, { "annotation": "RNA binding motif 47 (RBM47): emerging roles in vertebrate development, RNA editing and cancer. Review article", "evidence": [ { "database": "RefSeq", "id": "NP_001092104", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001092104" }, { "database": "PubMed", "id": "34499322", "url": "https://glygen.org/publication/PubMed/34499322" } ] }, { "annotation": "RNA-Binding Motif Protein RBM47 Promotes Invasiveness of Glioblastoma Through Activation of Epithelial-to-Mesenchymal Transition Program.", "evidence": [ { "database": "RefSeq", "id": "NP_001092104", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001092104" }, { "database": "PubMed", "id": "38156907", "url": "https://glygen.org/publication/PubMed/38156907" } ] }, { "annotation": "Single-stranded RNA-binding protein that functions in a variety of RNA processes, including alternative splicing, RNA stabilization, and RNA editing (PubMed:24038582, PubMed:24916387, PubMed:27050523, PubMed:30844405, PubMed:31358901, PubMed:34160127). Functions as an enzyme-substrate adapter for the cytidine deaminase APOBEC1. With APOBEC1 forms an mRNA editing complex involved into cytidine to uridine editing of a variety of mRNA molecules (PubMed:24038582, PubMed:24916387, PubMed:30844405). Through the binding of their 3'UTR, also stabilizes a variety of mRNAs and regulates the expression of genes such as the interferon alpha/beta receptor and interleukin-10 (PubMed:34160127). Also involved in the alternative splicing of several genes including TJP1. Binds the pre-mRNA (U)GCAUG consensus sequences in downstream intronic regions of alternative exons, regulating their exclusion and inclusion into mRNAs (PubMed:31358901, PubMed:27050523). Independently of its RNA-binding activity, could negatively regulate MAVS by promoting its lysosomal degradation (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "A0AV96", "url": "https://www.uniprot.org/uniprot/A0AV96#function" }, { "database": "PubMed", "id": "31358901", "url": "https://glygen.org/publication/PubMed/31358901" }, { "database": "PubMed", "id": "24916387", "url": "https://glygen.org/publication/PubMed/24916387" }, { "database": "UniProtKB", "id": "A0A8M1NHK4", "url": "https://www.uniprot.org/uniprot/A0A8M1NHK4#function" }, { "database": "PubMed", "id": "34160127", "url": "https://glygen.org/publication/PubMed/34160127" }, { "database": "PubMed", "id": "24038582", "url": "https://glygen.org/publication/PubMed/24038582" }, { "database": "PubMed", "id": "27050523", "url": "https://glygen.org/publication/PubMed/27050523" }, { "database": "PubMed", "id": "30844405", "url": "https://glygen.org/publication/PubMed/30844405" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "A0AV96", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0AV96" } ], "glycoeffect": [], "start_pos": 104, "end_pos": 104, "subjects_tested": "87", "subjects_positive": "1", "frequency": "1.1", "sequence_org": "M", "sequence_mut": "I", "comment": "Somatic mutation passed 1 out of 6 filters: patient freq. (1.1%).", "chr_id": "4", "chr_pos": "40438582", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "M104", "disease": [ { "disease_id": "DOID:1790", "recommended_name": { "id": "DOID:1790", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1790", "name": "malignant mesothelioma", "description": "A cell type cancer that has_material_basis_in mesothelial tissue that develops from the thin layer of tissue that covers many of the internal organs." }, "synonyms": [ { "id": "DOID:1790", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1790", "name": "Diffuse malignant Mesothelioma", "description": "" }, { "id": "DOID:1790", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1790", "name": "advanced malignant mesothelioma", "description": "" }, { "id": "DOID:1790", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1790", "name": "asbestos-related malignant mesothelioma", "description": "" }, { "id": "DOID:1790", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1790", "name": "malignant tumor of Mesothelium", "description": "" }, { "id": "MONDO:0006292", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0006292", "name": "malignant mesothelioma", "description": "A malignant neoplasm of the pleura or peritoneum, arising from mesothelial cells. It is associated with exposure to asbestos." }, { "id": "MONDO:0006292", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0006292", "name": "malignant mesothelial tumor", "description": "" }, { "id": "MONDO:0006292", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0006292", "name": "malignant mesothelial tumour", "description": "" }, { "id": "MONDO:0006292", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0006292", "name": "malignant mesothelioma", "description": "" }, { "id": "MONDO:0006292", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0006292", "name": "malignant mesothelioma (disease)", "description": "" }, { "id": "MONDO:0006292", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0006292", "name": "malignant neoplasm of mesothelium", "description": "" }, { "id": "MONDO:0006292", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0006292", "name": "malignant neoplasm of the mesothelium", "description": "" }, { "id": "MONDO:0006292", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0006292", "name": "malignant tumor of mesothelium", "description": "" }, { "id": "MONDO:0006292", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0006292", "name": "malignant tumor of the mesothelium", "description": "" }, { "id": "MONDO:0006292", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0006292", "name": "malignant tumour of mesothelium", "description": "" }, { "id": "MONDO:0006292", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0006292", "name": "malignant tumour of the mesothelium", "description": "" }, { "id": "MONDO:0006292", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0006292", "name": "mesothelioma, malignant", "description": "" }, { "id": "MONDO:0006292", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0006292", "name": "mesothelioma, somatic", "description": "" }, { "id": "MONDO:0006292", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0006292", "name": "advanced malignant mesothelioma", "description": "" }, { "id": "MONDO:0006292", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0006292", "name": "asbestos-related malignant mesothelioma", "description": "" }, { "id": "MONDO:0006292", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0006292", "name": "diffuse malignant mesothelioma", "description": "" }, { "id": "MONDO:0006292", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0006292", "name": "malignant mesothelial neoplasm", "description": "" }, { "id": "MONDO:0006292", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0006292", "name": "MESOM", "description": "" }, { "id": "MIM:156240", "resource": "MIM", "url": "https://www.omim.org/entry/156240", "name": "Mesothelioma, malignant", "description": "Mesothelioma, malignant" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "A0AV96", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0AV96" } ], "glycoeffect": [], "start_pos": 123, "end_pos": 123, "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": "4", "chr_pos": "40438527", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E123", "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" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ] }, { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs763012640", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763012640" }, { "id": "rs763012640", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763012640" }, { "id": "rs763012640", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs763012640#frequency_tab" }, { "id": "rs763012640", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs763012640" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 134, "end_pos": 134, "sequence_org": "Y", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NNY->NNS).", "chr_id": "4", "chr_pos": "40438493", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y134", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1268453430", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1268453430" }, { "id": "rs1268453430", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1268453430#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 195, "end_pos": 195, "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NRG->NRS).", "chr_id": "4", "chr_pos": "40438311", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G195", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs777068193", "database": "dbSNP", 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"database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs923646006" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 33, "end_pos": 33, "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NEA->NES).", "chr_id": "4", "chr_pos": "40438797", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A33", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs923646006", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs923646006" }, { "id": "rs923646006", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs923646006#frequency_tab" }, { "id": "rs923646006", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs923646006" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 33, "end_pos": 33, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 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"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, 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"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", 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"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": "Yes", "trend": "down", 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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": "A0AV96", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A0AV96" } ], "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": 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] }, { "id": "D6RCT1", "url": "https://www.uniprot.org/uniprot/D6RCT1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "D6RCT1-1", "url": "https://www.uniprot.org/uniprot/D6RCT1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "D6REZ6", "url": "https://www.uniprot.org/uniprot/D6REZ6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "D6REZ6-1", "url": "https://www.uniprot.org/uniprot/D6REZ6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "D6RFL5", "url": "https://www.uniprot.org/uniprot/D6RFL5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "D6RFL5-1", "url": "https://www.uniprot.org/uniprot/D6RFL5-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MTAEDSTAAMSSDSAAGSSAKVPEGVAGAPNEAALLALMERTGYSMVQENGQRKYGGPPPGWEGPHPQRGCEVFVGKIPRDVYEDELVPVFEAVGRIYELRLMMDFDGKNRGYAFVMYCHKHEAKRAVRELNNYEIRPGRLLGVCCSVDNCRLFIGGIPKMKKREEILEEIAKVTEGVLDVIVYASAADKMKNRGFAFVEYESHRAAAMARRKLMPGRIQLWGHQIAVDWAEPEIDVDEDVMETVKILYVRNLMIETTEDTIKKSFGQFNPGCVERVKKIRDYAFVHFTSREDAVHAMNNLNGTELEGSCLEVTLAKPVDKEQYSRYQKAARGGGAAEAAQQPSYVYSCDPYTLAYYGYPYNALIGPNRDYFVKAGSIRGRGRGAAGNRAPGPRGSYLGGYSAGRGIYSRYHEGKGKQQEKGYELVPNLEIPTVNPVAIKPGTVAIPAIGAQYSMFPAAPAPKMIEDGKIHTVEHMISPIAVQPDPASAAAAAAAAAAAAAAVIPTVSTPPPFQGRPITPVYTVAPNVQRIPTAGIYGASYVPFAAPATATIATLQKNAAAAAAMYGGYAGYIPQAFPAAAIQVPIPDVYQTY", "length": 593, "header": "sp|A0AV96-1|RBM47_HUMAN Isoform 1 of RNA-binding protein 47 OS=Homo sapiens OX=9606 GN=RBM47 PE=1 SV=2 CANONICAL=A0AV96-1" }, "isoforms": [ { "isoform_ac": "A0AV96-1", "url": "", "sequence": { "sequence": "MTAEDSTAAMSSDSAAGSSAKVPEGVAGAPNEAALLALMERTGYSMVQENGQRKYGGPPPGWEGPHPQRGCEVFVGKIPRDVYEDELVPVFEAVGRIYELRLMMDFDGKNRGYAFVMYCHKHEAKRAVRELNNYEIRPGRLLGVCCSVDNCRLFIGGIPKMKKREEILEEIAKVTEGVLDVIVYASAADKMKNRGFAFVEYESHRAAAMARRKLMPGRIQLWGHQIAVDWAEPEIDVDEDVMETVKILYVRNLMIETTEDTIKKSFGQFNPGCVERVKKIRDYAFVHFTSREDAVHAMNNLNGTELEGSCLEVTLAKPVDKEQYSRYQKAARGGGAAEAAQQPSYVYSCDPYTLAYYGYPYNALIGPNRDYFVKAGSIRGRGRGAAGNRAPGPRGSYLGGYSAGRGIYSRYHEGKGKQQEKGYELVPNLEIPTVNPVAIKPGTVAIPAIGAQYSMFPAAPAPKMIEDGKIHTVEHMISPIAVQPDPASAAAAAAAAAAAAAAVIPTVSTPPPFQGRPITPVYTVAPNVQRIPTAGIYGASYVPFAAPATATIATLQKNAAAAAAMYGGYAGYIPQAFPAAAIQVPIPDVYQTY", "length": 593, "header": "sp|A0AV96-1|RBM47_HUMAN Isoform 1 of RNA-binding protein 47 OS=Homo sapiens OX=9606 GN=RBM47 PE=1 SV=2 CANONICAL=A0AV96-1" }, "locus": { "chromosome": "4", "start_pos": 40438893, "end_pos": 40425907, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000381793.6", "url": "https://www.ensembl.org/id/ENST00000381793.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000371212.2", "url": "https://www.ensembl.org/id/ENSP00000371212.2" } ] } }, { "isoform_ac": "A0AV96-2", "url": "", "sequence": { "sequence": "MTAEDSTAAMSSDSAAGSSAKVPEGVAGAPNEAALLALMERTGYSMVQENGQRKYGGPPPGWEGPHPQRGCEVFVGKIPRDVYEDELVPVFEAVGRIYELRLMMDFDGKNRGYAFVMYCHKHEAKRAVRELNNYEIRPGRLLGVCCSVDNCRLFIGGIPKMKKREEILEEIAKVTEGVLDVIVYASAADKMKNRGFAFVEYESHRAAAMARRKLMPGRIQLWGHQIAVDWAEPEIDVDEDVMETVKILYVRNLMIETTEDTIKKSFGQFNPGCVERVKKIRDYAFVHFTSREDAVHAMNNLNGTELEGSCLEVTLAKPVDKEQYSRYQKAARGGGAAEAAQQPSYVYSCDPYTLAYYGYPYNALIGPNRDYFVKVAIPAIGAQYSMFPAAPAPKMIEDGKIHTVEHMISPIAVQPDPASAAAAAAAAAAAAAAVIPTVSTPPPFQGRPITPVYTVAPNVQRIPTAGIYGASYVPFAAPATATIATLQKNAAAAAAMYGGYAGYIPQAFPAAAIQVPIPDVYQTY", "length": 524, "header": "sp|A0AV96-2|RBM47_HUMAN Isoform 2 of RNA-binding protein 47 OS=Homo sapiens OX=9606 GN=RBM47 PE=1 SV=2 CANONICAL=A0AV96-1" }, "locus": { "chromosome": "4", "start_pos": 40438893, "end_pos": 40425907, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000381795.10", "url": "https://www.ensembl.org/id/ENST00000381795.10" }, { "database": "Ensembl Peptide", "id": "ENSP00000371214.6", "url": "https://www.ensembl.org/id/ENSP00000371214.6" } ] } }, { "isoform_ac": "B7Z8Z7-1", "url": "", "sequence": { "sequence": "MERTGYSMVQENGQRKYGGPPPGWEGPHPQRGCEVFVGKIPRDVYEDELVPVFEAVGRIYELRLMMDFDGKNRGYAFVMYCHKHEAKRAVRELNNYEIRPGRLLGVCCSVDNCRLFIGGIPKMKKREEILEEIAKVTEGVLDVIVYASAADKMKNRGFAFVEYESHRAAAMARRKLMPGRIQLWGHQIAVDWAEPEIDVDEDVMETVKILYVRNLMIETTEDTIKKSFGQFNPGCVERVKKIRDYAFVHFTSREDAVHAMNNLNGTELEGSCLEVTLAKPVDKEQYSRYQKAARGGGAAEAAQQPSYVYSCDPYTLAYYGYPYNALIGPNRDYFVKAGSIRGRGRGAAGNRAPGPRGSYLGGYSAGRGIYSRYHEGKGKQQEKGYELVPNLEIPTVNPVAIKPGTVAIPAIGAQYSMFPAAPAPKMIEDGKIHTVEHMISPIAVQPDPASAAAAAAAAAAAAAAVIPTVSTPPPFQGRPITPVYTVAPNVQRIPTAGIYGASYVPFAAPATATIATLQKNAAAAAAMYGGYAGYIPQAFPAAAIQVPIPDVYQTY", "length": 555, "header": "tr|B7Z8Z7-1|RBM47_HUMAN Computationally mapped isoform of RNA-binding protein 47 OS=Homo sapiens OX=9606 GN=RBM47 PE=1 SV=1 CANONICAL=A0AV96-1" }, "locus": { "chromosome": "4", "start_pos": 40438779, "end_pos": 40425907, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000514014.1", "url": "https://www.ensembl.org/id/ENST00000514014.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000423243.1", "url": "https://www.ensembl.org/id/ENSP00000423243.1" } ] } }, { "isoform_ac": "D6R9D6-1", "url": "", "sequence": { "sequence": "MTAEDSTAAMSSDSAAGSSAKVPEGVAGAPNEAALLALMERTGYSMVQENGQRKYGGPPPGWEGPHPQRGCEVFVGKIPRDVYEDELVPVFEAVGRIYELRLMMDFDGKNRGYAFVMYCHKHEAKRAVRELNNYEIRPGRLLGVCCSVDNCRLFIGGIPKMKKREEILEEIAKVTEGVLDVIVYASAADKMKNRGFAFVEYESHRAAAMARRKLMPGRIQLWGHQIAVDWAEPEIDVDEDVMETVKILYVRNLMIETTEDTIKKSFGQFNPGCVERVKKIRDYAFVHFTSREDAVHAMNNLNGTELEGSCLEVTLAKPVDKEQYSRYQKAARGGGAAEAAQQPSYVYSCDPYTLAYYGYPYNALIGPNRDYFVKDTILETHPASLPLVLRRHA", "length": 393, "header": "tr|D6R9D6-1|RBM47_HUMAN Computationally mapped isoform of RNA-binding protein 47 OS=Homo sapiens OX=9606 GN=RBM47 PE=1 SV=1 CANONICAL=A0AV96-1" }, "locus": { "chromosome": "4", "start_pos": 40438893, "end_pos": 40436830, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000510871.5", "url": "https://www.ensembl.org/id/ENST00000510871.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000422945.1", "url": "https://www.ensembl.org/id/ENSP00000422945.1" } ] } }, { "isoform_ac": "D6R9M7-1", "url": "", "sequence": { "sequence": "MTAEDSTAAMSSDSAAGSSAKVPEGVAGAPNEAALLALMERTGYSMVQENGQRKYGGPPPGWEGPHPQRGCEVFVGKIPRDVYEDELVPVFEAVGRIYELRLMMDFDGKNRGYAFVMYCHKHEAKRAVRELNNYEIRPGRLLGVCCSVDNCRLFIGGI", "length": 158, "header": "tr|D6R9M7-1|RBM47_HUMAN Computationally mapped isoform of RNA-binding protein 47 OS=Homo sapiens OX=9606 GN=RBM47 PE=1 SV=8 CANONICAL=A0AV96-1" }, "locus": { "chromosome": "4", "start_pos": 40438893, "end_pos": 40438420, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000505414.5", "url": "https://www.ensembl.org/id/ENST00000505414.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000423527.1", "url": "https://www.ensembl.org/id/ENSP00000423527.1" } ] } }, { "isoform_ac": "D6RA49-1", "url": "", "sequence": { "sequence": "MTAEDSTAAMSSDSAAGSSAKVPEGVAGAPNEAALLALMERTGYSMVQENGQRKYGGPPPGWEGPHPQRGCEVFVGKIPRDVYEDELVPVFEAVGRIYELRLMMDFDGKNRGYAFVMYCHKHE", "length": 123, "header": "tr|D6RA49-1|RBM47_HUMAN Computationally mapped isoform of RNA-binding protein 47 OS=Homo sapiens OX=9606 GN=RBM47 PE=1 SV=8 CANONICAL=A0AV96-1" }, "locus": { "chromosome": "4", "start_pos": 40438893, "end_pos": 40438525, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000507180.5", "url": "https://www.ensembl.org/id/ENST00000507180.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000423398.1", "url": "https://www.ensembl.org/id/ENSP00000423398.1" } ] } }, { "isoform_ac": "D6RBP6-1", "url": "", "sequence": { "sequence": "MTAEDSTAAMSSDSAAGSSAKVPEGVAGAPNEAALLALMERTGYSMVQENGQRKYGGPPPGWEGPHPQRGCEVFVGKIPRDVYEDELVPVFEAVGRIYELRLMMDFDGKNRGY", "length": 113, "header": "tr|D6RBP6-1|RBM47_HUMAN Computationally mapped isoform of RNA-binding protein 47 OS=Homo sapiens OX=9606 GN=RBM47 PE=1 SV=8 CANONICAL=A0AV96-1" }, "locus": { "chromosome": "4", "start_pos": 40438893, "end_pos": 40438555, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000511598.5", "url": "https://www.ensembl.org/id/ENST00000511598.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000424019.1", "url": "https://www.ensembl.org/id/ENSP00000424019.1" } ] } }, { "isoform_ac": "D6RBS9-1", "url": "", "sequence": { "sequence": "MTAEDSTAAMSSDSAAGSSAKVPEGVAGAPNEAALLALMERTGYSMVQENGQRKYGGPPPGWEGPHPQRGCEVFVGKIPRDVYEDELVPVFEAVGRIYELRLMMDFDGKNRGYAFVMYCHKHEAKRAVRELNNYEIRPGRLLGVCCSVDNCRLFIGGIPKMKKREEILEEIAKVTEGVLDVIVYASAADKMKNRGFAFVEYESHRAAAMARRKLMPG", "length": 217, "header": "tr|D6RBS9-1|RBM47_HUMAN Computationally mapped isoform of RNA-binding protein 47 OS=Homo sapiens OX=9606 GN=RBM47 PE=1 SV=1 CANONICAL=A0AV96-1" }, "locus": { "chromosome": "4", "start_pos": 40438893, "end_pos": 40438243, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000515053.5", "url": "https://www.ensembl.org/id/ENST00000515053.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000422564.1", "url": "https://www.ensembl.org/id/ENSP00000422564.1" } ] } }, { "isoform_ac": "D6RCT1-1", "url": "", "sequence": { "sequence": "MTAEDSTAAMSSDSAAGSSAKVPEGVAGAPNEAALLALMERTGYSMVQENGQRKYGGPP", "length": 59, "header": "tr|D6RCT1-1|RBM47_HUMAN Computationally mapped isoform of RNA-binding protein 47 OS=Homo sapiens OX=9606 GN=RBM47 PE=1 SV=1 CANONICAL=A0AV96-1" }, "locus": { "chromosome": "4", "start_pos": 40438893, "end_pos": 40438717, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000511902.5", "url": "https://www.ensembl.org/id/ENST00000511902.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000425111.1", "url": "https://www.ensembl.org/id/ENSP00000425111.1" } ] } }, { "isoform_ac": "D6REZ6-1", "url": "", "sequence": { "sequence": "MTAEDSTAAMSSDSAAGSSAKVPEGVAGAPNEAALLALMERTGYSMVQENGQRKYGGPPPGWEGPHPQRGCEVFVGKIPRDVYEDELVPVFEAVGRIYELRLMMDFDGKNRGYAFVMYCHKHEAKRAVRELNNYEIRPGRLLGVCCSVDNCRLFIGGIPKMKKREEILEEIAKVTEGVLDVIVYASAADKMKN", "length": 193, "header": "tr|D6REZ6-1|RBM47_HUMAN Computationally mapped isoform of RNA-binding protein 47 OS=Homo sapiens OX=9606 GN=RBM47 PE=1 SV=1 CANONICAL=A0AV96-1" }, "locus": { "chromosome": "4", "start_pos": 40438893, "end_pos": 40438315, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000513473.5", "url": "https://www.ensembl.org/id/ENST00000513473.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000421589.1", "url": "https://www.ensembl.org/id/ENSP00000421589.1" } ] } }, { "isoform_ac": "D6RFL5-1", "url": "", "sequence": { "sequence": "MTAEDSTAAMSSDSAAGSSAKVPEGVAGAPNEAALLALMERTGYSMVQENGQRKYGGPPPGWEGPHPQRGCEVFVGKIPRDVYEDELVPVFEAVGRIYELRLMMDFDGKNRGYAFVMYCHKHEAKRAVRELNNYEIR", "length": 137, "header": "tr|D6RFL5-1|RBM47_HUMAN Computationally mapped isoform of RNA-binding protein 47 OS=Homo sapiens OX=9606 GN=RBM47 PE=1 SV=1 CANONICAL=A0AV96-1" }, "locus": { "chromosome": "4", "start_pos": 40438893, "end_pos": 40438483, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000514782.5", "url": "https://www.ensembl.org/id/ENST00000514782.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000426542.1", "url": "https://www.ensembl.org/id/ENSP00000426542.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 519, "start_aa": "Thr", "end_pos": 519, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr519", "evidence": [ { "id": "A0AV96", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=A0AV96" }, { "id": "33214551", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33214551" }, { "id": "28510447", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28510447" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" }, { "id": "35132862", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35132862" }, { "id": "37340703", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37340703" }, { "id": "29237092", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29237092" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 523, "start_aa": "Thr", "end_pos": 523, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr523", "evidence": [ { "id": "A0AV96", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=A0AV96" }, { "id": "33214551", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33214551" }, { "id": "28510447", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28510447" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" }, { "id": "35132862", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35132862" }, { "id": "37340703", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37340703" }, { "id": "29237092", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29237092" }, { "id": "A0AV96", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/A0AV96" } ] } ], "phosphorylation": [ { "start_pos": 134, "end_pos": 134, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "A0AV96", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A0AV96" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Tyr134" }, { "start_pos": 519, "end_pos": 519, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "A0AV96", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A0AV96" }, { "database": "PubMed", "id": "27869121", "url": "" }, { "database": "PubMed", "id": "28228285", "url": "" } ], "site_lbl": "Thr519" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "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": "iPTMnet", "id": "A0AV96-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A0AV96-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "title": "rbm47, a novel RNA binding protein, regulates zebrafish head development.", "journal": "Developmental dynamics : an official publication of the American Association of Anatomists", "date": "2013-12", "authors": "Guan Rui, El-Rass Suzan, Spillane David, Lam Simon, Wang Yuodong, Wu Jing, Chen Zhuchu, Wang Anan, Jia Zhengping, Keating Armand, Hu Jim, Wen Xiao-Yan", "evidence": [ { "database": "UniProtKB", "id": "A0AV96", "url": "https://www.uniprot.org/uniprot/A0AV96" } ], "reference": [ { "type": "PubMed", "id": "24038582", "url": "https://glygen.org/publication/PubMed/24038582" } ] }, { "title": "Immunoaffinity enrichment and mass spectrometry analysis of protein methylation.", "journal": "Molecular & cellular proteomics : MCP", "date": "2014", "authors": "Guo A, Gu H, Zhou J, Mulhern D, Wang Y, Lee KA, Yang V, Aguiar M, Kornhauser J, Jia X, Ren J, Beausoleil SA, Silva JC, Vemulapalli V, Bedford MT, Comb MJ", "evidence": [ { "database": "UniProtKB", "id": "A0AV96", "url": "https://www.uniprot.org/uniprot/A0AV96" } ], "reference": [ { "type": "PubMed", "id": "24129315", "url": "https://glygen.org/publication/PubMed/24129315" } ] }, { "title": "C to U RNA editing mediated by APOBEC1 requires RNA-binding protein RBM47.", "journal": "EMBO reports", "date": "2014", "authors": "Fossat N, Tourle K, Radziewic T, Barratt K, Liebhold D, Studdert JB, Power M, Jones V, Loebel DA, Tam PP", "evidence": [ { "database": "UniProtKB", "id": "A0AV96", "url": "https://www.uniprot.org/uniprot/A0AV96" } ], "reference": [ { "type": "PubMed", "id": "24916387", "url": "https://glygen.org/publication/PubMed/24916387" } ] }, { "title": "Multiphasic and Dynamic Changes in Alternative Splicing during Induction of Pluripotency Are Coordinated by Numerous RNA-Binding Proteins.", "journal": "Cell reports", "date": "2016-04-12", "authors": "Cieply Benjamin, Park Juw Won, Nakauka-Ddamba Angela, Bebee Thomas W, Guo Yang, Shang Xuequn, Lengner Christopher J, Xing Yi, Carstens Russ P", "evidence": [ { "database": "UniProtKB", "id": "A0AV96", "url": "https://www.uniprot.org/uniprot/A0AV96" } ], "reference": [ { "type": "PubMed", "id": "27050523", "url": "https://glygen.org/publication/PubMed/27050523" } ] }, { "title": "Synthesis of a Highly Azide-Reactive and Thermosensitive Biofunctional Reagent for Efficient Enrichment and Large-Scale Identification of O-GlcNAc Proteins by Mass Spectrometry.", "journal": "Analytical chemistry", "date": "2017", "authors": "Zhang W, Liu T, Dong H, Bai H, Tian F, Shi Z, Chen M, Wang J, Qin W, Qian X", "evidence": [ { "database": "O-GlcNAc Database", "id": "A0AV96", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=A0AV96" } ], "reference": [ { "type": "PubMed", "id": "28510447", "url": "https://glygen.org/publication/PubMed/28510447" } ] }, { "title": "Artificial Cysteine S-Glycosylation Induced by Per-O-Acetylated Unnatural Monosaccharides during Metabolic Glycan Labeling.", "journal": "Angewandte Chemie (International ed. in English)", "date": "2018", "authors": "Qin W, Qin K, Fan X, Peng L, Hong W, Zhu Y, Lv P, Du Y, Huang R, Han M, Cheng B, Liu Y, Zhou W, Wang C, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "A0AV96", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=A0AV96" } ], "reference": [ { "type": "PubMed", "id": "29237092", "url": "https://glygen.org/publication/PubMed/29237092" } ] }, { "title": "Quantitative Profiling of Protein O-GlcNAcylation Sites by an Isotope-Tagged Cleavable Linker.", "journal": "ACS chemical biology", "date": "2018", "authors": "Qin K, Zhu Y, Qin W, Gao J, Shao X, Wang YL, Zhou W, Wang C, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "A0AV96", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=A0AV96" }, { "database": "O-GlcNAc Atlas", "id": "A0AV96", "url": "https://oglcnac.org/atlas/detail/A0AV96" } ], "reference": [ { "type": "PubMed", "id": "30059200", "url": "https://glygen.org/publication/PubMed/30059200" } ] }, { "title": "Comparison of RNA Editing Activity of APOBEC1-A1CF and APOBEC1-RBM47 Complexes Reconstituted in HEK293T Cells.", "journal": "Journal of molecular biology", "date": "2019-03-29", "authors": "Wolfe Aaron D, Arnold Don B, Chen Xiaojiang S", "evidence": [ { "database": "UniProtKB", "id": "A0AV96", "url": "https://www.uniprot.org/uniprot/A0AV96" } ], "reference": [ { "type": "PubMed", "id": "30844405", "url": "https://glygen.org/publication/PubMed/30844405" } ] }, { "title": "RBM47-regulated alternative splicing of TJP1 promotes actin stress fiber assembly during epithelial-to-mesenchymal transition.", "journal": "Oncogene", "date": "2019", "authors": "Kim YE, Won M, Lee SG, Park C, Song CH, Kim KK", "evidence": [ { "database": "UniProtKB", "id": "A0AV96", "url": "https://www.uniprot.org/uniprot/A0AV96" } ], "reference": [ { "type": "PubMed", "id": "31358901", "url": "https://glygen.org/publication/PubMed/31358901" } ] }, { "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": "A0AV96", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=A0AV96" } ], "reference": [ { "type": "PubMed", "id": "33214551", "url": "https://glygen.org/publication/PubMed/33214551" } ] }, { "title": "RNA-binding protein RBM47 stabilizes IFNAR1 mRNA to potentiate host antiviral activity.", "journal": "EMBO reports", "date": "2021-08-04", "authors": "Wang Kezhen, Huang Chenxiao, Jiang Tao, Chen Zhiqiang, Xue Minfei, Zhang Qi, Zhang Jinyu, Dai Jianfeng", "evidence": [ { "database": "UniProtKB", "id": "A0AV96", "url": "https://www.uniprot.org/uniprot/A0AV96" } ], "reference": [ { "type": "PubMed", "id": "34160127", "url": "https://glygen.org/publication/PubMed/34160127" } ] }, { "title": "RNA binding motif 47 (RBM47): emerging roles in vertebrate development, RNA editing and cancer.", "journal": "Molecular and cellular biochemistry", "date": "2021", "authors": "Shivalingappa PKM, Sharma V, Shiras A, Bapat SA", "evidence": [ { "database": "RefSeq", "id": "NP_001092104", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001092104" } ], "reference": [ { "type": "PubMed", "id": "34499322", "url": "https://glygen.org/publication/PubMed/34499322" } ] }, { "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": "A0AV96", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=A0AV96" } ], "reference": [ { "type": "PubMed", "id": "35132862", "url": "https://glygen.org/publication/PubMed/35132862" } ] }, { "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": "A0AV96", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=A0AV96" } ], "reference": [ { "type": "PubMed", "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053" } ] }, { "title": "RBM47 regulates intestinal injury and tumorigenesis by modifying proliferation, oxidative response and inflammatory pathways.", "journal": "JCI insight", "date": "2023-04-04", "authors": "Soleymanjahi Saeed, Blanc Valerie, Molitor Elizabeth A, Alvarado David M, Xie Yan, Gazit Vered, Brown Jeffrey W, Byrnes Kathleen, Liu Ta-Chiang, Mills Jason C, Ciorba Matthew A, Rubin Deborah C, Davidson Nicholas O", "evidence": [ { "database": "RefSeq", "id": "NP_001092104", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001092104" } ], "reference": [ { "type": "PubMed", "id": "37014710", "url": "https://glygen.org/publication/PubMed/37014710" } ] }, { "title": "`Two Birds One Stone` Strategy for the Site-Specific Analysis of Core Fucosylation and O-GlcNAcylation.", "journal": "Journal of the American Chemical Society", "date": "2023-07-26", "authors": "Luo Yawen, Wang Yuqiu, Tian Yinping, Zhou Hu, Wen Liuqing", "evidence": [ { "database": "O-GlcNAc Database", "id": "A0AV96", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=A0AV96" } ], "reference": [ { "type": "PubMed", "id": "37340703", "url": "https://glygen.org/publication/PubMed/37340703" } ] }, { "title": "RNA-Binding Motif Protein RBM47 Promotes Invasiveness of Glioblastoma Through Activation of Epithelial-to-Mesenchymal Transition Program.", "journal": "Genetic testing and molecular biomarkers", "date": "2023-12", "authors": "Xing Yi-Qi, Zhu Ting-Zhun", "evidence": [ { "database": "RefSeq", "id": "NP_001092104", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001092104" } ], "reference": [ { "type": "PubMed", "id": "38156907", "url": "https://glygen.org/publication/PubMed/38156907" } ] } ], "pathway": [ { "id": "hsa:54502", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:54502", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "Q66H68-1", "protein_name": "RNA-binding protein 47", "gene_name": "Rbm47", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": 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"evidence": [ { "database": "UniProtKB", "id": "A0AV96", "url": "https://www.uniprot.org/uniprot/A0AV96" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 3, "go_terms": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "A0AV96", "url": "https://www.uniprot.org/uniprot/A0AV96" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "A0AV96", "url": "https://www.uniprot.org/uniprot/A0AV96" } ], "pmid": "" }, { "name": "apolipoprotein B mRNA editing enzyme complex", "id": "GO:0030895", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030895", "evidence": [ { "database": "UniProtKB", "id": "A0AV96", "url": "https://www.uniprot.org/uniprot/A0AV96" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 8, "go_terms": [ { "name": "mRNA processing", "id": "GO:0006397", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006397", "evidence": [ { "database": "UniProtKB", "id": "A0AV96", "url": "https://www.uniprot.org/uniprot/A0AV96" } ], "pmid": "" }, { "name": "cytidine to uridine editing", "id": "GO:0016554", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016554", "evidence": [ { "database": "UniProtKB", "id": "A0AV96", "url": "https://www.uniprot.org/uniprot/A0AV96" } ], "pmid": "" }, { "name": "RNA splicing", "id": "GO:0008380", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008380", "evidence": [ { "database": "UniProtKB", "id": "A0AV96", "url": "https://www.uniprot.org/uniprot/A0AV96" } ], "pmid": "" }, { "name": "3'-UTR-mediated mRNA stabilization", "id": "GO:0070935", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070935", "evidence": [ { "database": "UniProtKB", "id": "A0AV96", "url": "https://www.uniprot.org/uniprot/A0AV96" } ], "pmid": "" }, { "name": "hematopoietic progenitor cell differentiation", "id": "GO:0002244", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002244", "evidence": [ { "database": "UniProtKB", "id": "A0AV96", "url": "https://www.uniprot.org/uniprot/A0AV96" } ], "pmid": "" }, { "name": "positive regulation of interleukin-10 production", "id": "GO:0032733", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032733", "evidence": [ { "database": "UniProtKB", "id": "A0AV96", "url": "https://www.uniprot.org/uniprot/A0AV96" } ], "pmid": "" }, { "name": "positive regulation of type I interferon-mediated signaling pathway", "id": "GO:0060340", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060340", "evidence": [ { "database": "UniProtKB", "id": "A0AV96", "url": "https://www.uniprot.org/uniprot/A0AV96" } ], "pmid": "" }, { "name": "regulation of alternative mRNA splicing, via spliceosome", "id": "GO:0000381", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000381", "evidence": [ { "database": "UniProtKB", "id": "A0AV96", "url": "https://www.uniprot.org/uniprot/A0AV96" } ], "pmid": "" } ] } ] }, 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