{ "uniprot_canonical_ac": "O43567-1", "uniprot_ac": "O43567", "uniprot_id": "RNF13_HUMAN", "mass": { "chemical_mass": 42814.0, "monoisotopic_mass": 42814.0 }, "refseq": { "ac": "NP_009213", "name": "E3 ubiquitin-protein ligase RNF13 isoform 1 precursor", "summary": "The protein encoded by this gene contains a RING zinc finger, a motif known to be involved in protein-protein interactions. The specific function of this gene has not yet been determined. Alternatively spliced transcript variants that encode the same protein have been reported. A pseudogene, which is also located on chromosome 3, has been defined for this gene. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_009213" }, "gene_names": [ { "name": "RNF13", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O43567", "id": "O43567" }, { "name": "DEE73; EIEE73; RZF", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_009213", "id": "NP_009213" }, { "name": "RNF13", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_009213", "id": "NP_009213" }, { "name": "RZF", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O43567", "id": "O43567" } ], "protein_names": [ { "name": "E3 ubiquitin-protein ligase RNF13", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O43567" }, { "name": "2.3.2.27", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43567" }, { "name": "E3 ubiquitin-protein ligase RNF13 isoform 1 precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_009213", "id": "NP_009213" }, { "name": "RING finger protein 13", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43567" }, { "name": "RING zinc finger protein; E3 ubiquitin-protein ligase RNF13; RING-type E3 ubiquitin transferase RNF13", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_009213", "id": "NP_009213" } ], "function": [ { "annotation": "Circular RNA circRNF13 inhibits proliferation and metastasis of nasopharyngeal carcinoma via SUMO2. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_009213", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_009213" }, { "database": "PubMed", "id": "34465340", "url": "https://glygen.org/publication/PubMed/34465340" } ] }, { "annotation": "Cloning report of the chicken homolog", "evidence": [ { "database": "RefSeq", "id": "NP_009213", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_009213" }, { "database": "PubMed", "id": "8610176", "url": "https://glygen.org/publication/PubMed/8610176" } ] }, { "annotation": "E3 ubiquitin-protein ligase that regulates cell proliferation (PubMed:18794910, PubMed:23378536, PubMed:30595371). Involved in apoptosis regulation (PubMed:23378536, PubMed:30595371). Mediates ER stress-induced activation of JNK signaling pathway and apoptosis by promoting ERN1 activation and splicing of XBP1 mRNA (PubMed:23378536, PubMed:30595371). Also involved in protein trafficking and localization (PubMed:24387786).", "evidence": [ { "database": "UniProtKB", "id": "O43567", "url": "https://www.uniprot.org/uniprot/O43567#function" }, { "database": "PubMed", "id": "18794910", "url": "https://glygen.org/publication/PubMed/18794910" }, { "database": "PubMed", "id": "23378536", "url": "https://glygen.org/publication/PubMed/23378536" }, { "database": "PubMed", "id": "30595371", "url": "https://glygen.org/publication/PubMed/30595371" }, { "database": "PubMed", "id": "24387786", "url": "https://glygen.org/publication/PubMed/24387786" } ] }, { "annotation": "Heterozygous gain of function variants in a critical region of RNF13 cause congenital microcephaly, epileptic encephalopathy, blindness, and failure to thrive. Review article", "evidence": [ { "database": "RefSeq", "id": "NP_009213", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_009213" }, { "database": "PubMed", "id": "37668308", "url": "https://glygen.org/publication/PubMed/37668308" } ] }, { "annotation": "MiR-32-3p Regulates Myocardial Injury Induced by Microembolism and Microvascular Obstruction by Targeting RNF13 to Regulate the Stability of Atherosclerotic Plaques.", "evidence": [ { "database": "RefSeq", "id": "NP_009213", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_009213" }, { "database": "PubMed", "id": "34185281", "url": "https://glygen.org/publication/PubMed/34185281" } ] }, { "annotation": "Mice lacking Mt1/2 have a rapid decrease in Rnf13 during acute lung injury", "evidence": [ { "database": "RefSeq", "id": "NP_009213", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_009213" }, { "database": "PubMed", "id": "16166738", "url": "https://glygen.org/publication/PubMed/16166738" } ] }, { "annotation": "RNF13 Dileucine Motif Variants L311S and L312P Interfere with Endosomal Localization and AP-3 Complex Association. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_009213", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_009213" }, { "database": "PubMed", "id": "34831286", "url": "https://glygen.org/publication/PubMed/34831286" } ] }, { "annotation": "RNF13 is a novel E3 ubiquitin ligase involved in pancreatic carcinogenesis.", "evidence": [ { "database": "RefSeq", "id": "NP_009213", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_009213" }, { "database": "PubMed", "id": "18794910", "url": "https://glygen.org/publication/PubMed/18794910" } ] }, { "annotation": "The Regulation of circRNA RNF13/miRNA-1224-5p Axis Promotes the Malignant Evolution in Acute Myeloid Leukemia. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_009213", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_009213" }, { "database": "PubMed", "id": "33083473", "url": "https://glygen.org/publication/PubMed/33083473" } ] }, { "annotation": "The protein encoded by this gene contains a RING zinc finger, a motif known to be involved in protein-protein interactions. The specific function of this gene has not yet been determined. Alternatively spliced transcript variants that encode the same protein have been reported. A pseudogene, which is also located on chromosome 3, has been defined for this gene. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_009213", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_009213" } ] } ], "disease": [ { "disease_id": "DOID:0112209", "recommended_name": { "id": "DOID:0112209", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112209", "name": "developmental and epileptic encephalopathy 73", "description": "A developmental and epileptic encephalopathy characterized by onset in the months of life of refractory seizures, profound developmental delay, failure to thrive, hypotonia, and are unable to walk, speak, or feed properly that has_material_basis_in heterozygous mutation in the RNF13 gene on chromosome 3q25.1." }, "synonyms": [ { "id": "DOID:0112209", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112209", "name": "DEE73", "description": "" }, { "id": "DOID:0112209", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112209", "name": "early infantile epileptic encephalopathy 73", "description": "" }, { "id": "MONDO:0034106", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0034106", "name": "developmental and epileptic encephalopathy, 73", "description": "" }, { "id": "MONDO:0034106", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0034106", "name": "DEE73", "description": "" }, { "id": "MONDO:0034106", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0034106", "name": "developmental and epileptic encephalopathy 73", "description": "" }, { "id": "MONDO:0034106", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0034106", "name": "epileptic encephalopathy, early infantile, 73", "description": "" }, { "id": "MONDO:0034106", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0034106", "name": "rnf13-related severe early-onset epileptic encephalopathy", "description": "" }, { "id": "MIM:618379", "resource": "MIM", "url": "https://www.omim.org/entry/618379", "name": "Developmental and epileptic encephalopathy 73", "description": "Developmental and epileptic encephalopathy 73" } ], "evidence": [ { "id": "618379", "database": "MIM", "url": "https://www.omim.org/entry/618379" } ] } ], "snv": [ { "evidence": [ { "id": "O43567", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O43567" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 297, "end_pos": 297, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (DSS->NSS).", "chr_id": "3", "chr_pos": "149960847", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "D297", "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 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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": 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"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 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"start_pos": 69, "end_pos": 69, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "I", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (INS->NNS).", "chr_id": "3", "chr_pos": "149872039", "ref_nt": "T", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "I69", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "O43567", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O43567" }, { "id": "rs138683130", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs138683130" }, { "id": "rs138683130", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs138683130" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 89, "end_pos": 89, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "L", "comment": "Somatic mutation passed 1 out of 6 filters: o-glyco-site-loss (S->L).", "chr_id": "3", "chr_pos": "149872099", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S89", "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", 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"Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs1247635407", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1247635407" }, { "id": "rs1247635407", "database": "gnomAD", "url": 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"https://glygen.org/publication/PubMed/23378536" } ] }, { "start_pos": 184, "end_pos": 207, "sequence_org": "LIPFLIIVGICLILIVIFMITKFV", "sequence_mut": "", "comment": "Abolishes ER stress-induced JNK activation and apoptosis. 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No effect on interaction with ERN1.", "evidence": [ { "database": "UniProtKB", "id": "O43567", "url": "https://www.uniprot.org/uniprot/O43567" }, { "database": "PubMed", "id": "23378536", "url": "https://glygen.org/publication/PubMed/23378536" } ] }, { "start_pos": 88, "end_pos": 88, "sequence_org": "N", "sequence_mut": "A", "comment": "Loss of glycosylation.", "evidence": [ { "database": "UniProtKB", "id": "O43567", "url": "https://www.uniprot.org/uniprot/O43567" }, { "database": "PubMed", "id": "18794910", "url": "https://glygen.org/publication/PubMed/18794910" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "94.5", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000082996", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000082996" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": 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"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": "O43567", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43567" } ], "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", 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"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": "O43567", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43567" } ], "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": "O43567", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43567" } ], "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": "Yes", "trend": "down", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "O43567", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43567" } ], "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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"UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JYY4-1", "url": "https://www.uniprot.org/uniprot/C9JYY4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8WDJ5", "url": "https://www.uniprot.org/uniprot/F8WDJ5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8WDJ5-1", "url": "https://www.uniprot.org/uniprot/F8WDJ5-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8WEX6", "url": "https://www.uniprot.org/uniprot/F8WEX6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8WEX6-1", "url": "https://www.uniprot.org/uniprot/F8WEX6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7C5Q6", "url": "https://www.uniprot.org/uniprot/H7C5Q6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7C5Q6-1", "url": "https://www.uniprot.org/uniprot/H7C5Q6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O43567", "url": "https://www.uniprot.org/uniprot/O43567", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O43567-1", "url": "https://www.uniprot.org/uniprot/O43567-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O43567-2", "url": "https://www.uniprot.org/uniprot/O43567-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MLLSIGMLMLSATQVYTILTVQLFAFLNLLPVEADILAYNFENASQTFDDLPARFGYRLPAEGLKGFLINSKPENACEPIVPPPVKDNSSGTFIVLIRRLDCNFDIKVLNAQRAGYKAAIVHNVDSDDLISMGSNDIEVLKKIDIPSVFIGESSANSLKDEFTYEKGGHLILVPEFSLPLEYYLIPFLIIVGICLILIVIFMITKFVQDRHRARRNRLRKDQLKKLPVHKFKKGDEYDVCAICLDEYEDGDKLRILPCSHAYHCKCVDPWLTKTKKTCPVCKQKVVPSQGDSDSDTDSSQEENEVTEHTPLLRPLASVSAQSFGALSESRSHQNMTESSDYEEDDNEDTDSSDAENEINEHDVVVQLQPNGERDYNIANTV", "length": 381, "header": "sp|O43567-1|RNF13_HUMAN Isoform 1 of E3 ubiquitin-protein ligase RNF13 OS=Homo sapiens OX=9606 GN=RNF13 PE=1 SV=1 CANONICAL=O43567-1" }, "isoforms": [ { "isoform_ac": "C9IY58-1", "url": "", "sequence": { "sequence": "MLILMTSLAWDPTTVSTVEVLKKIDIPSVFIGESSANSLKDEFTYEKGGHLILVPEFSLPLEYYLIPFLIIVGICLILIVIFMITKFVQDRHRARRNRLRKDQLKKLPVHKFKKGDEYDVCAICLDEYEDGDKLRILPCSHAYHCKCVDPWLTKTKKTCPVCKQKVVPSQGDSDSDTDSSQEENEVTEHTPLLRPLASVSAQSFGALSESRSHQNMTESSDYEEDDNEDTDS", "length": 232, "header": "tr|C9IY58-1|C9IY58_HUMAN Computationally mapped isoform of RING-type E3 ubiquitin transferase OS=Homo sapiens OX=9606 GN=RNF13 PE=1 SV=3 CANONICAL=O43567-1" }, "locus": { "chromosome": "3", "start_pos": 149961011, "end_pos": 149895519, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000482083.7", "url": "https://www.ensembl.org/id/ENST00000482083.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000418863.3", "url": "https://www.ensembl.org/id/ENSP00000418863.3" } ] } }, { "isoform_ac": "C9J383-1", "url": "", "sequence": { "sequence": "MLLSIGMLMLSATQVYTILTVQLFAFLNLLPVEADILAYNFENASQTFDDLPARFGYRLPAEGLKGFLINSKPENACEPIVPPPVKDNSSGTFIVLIRRLDCNFDIKVLNAQRAGYKAAIVHNVDSDDLISMGSNDSKYRGHLILVPEFSLPLEYYLIPFLIIVGICLILIVIFMITKFVQDRHRARRNRLR", "length": 192, "header": "tr|C9J383-1|RNF13_HUMAN Computationally mapped isoform of E3 ubiquitin-protein ligase RNF13 OS=Homo sapiens OX=9606 GN=RNF13 PE=1 SV=1 CANONICAL=O43567-1" }, "locus": { "chromosome": "3", "start_pos": 149921184, "end_pos": 149846027, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000490631.5", "url": "https://www.ensembl.org/id/ENST00000490631.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000417294.1", "url": "https://www.ensembl.org/id/ENSP00000417294.1" } ] } }, { "isoform_ac": "C9J7B4-1", "url": "", "sequence": { "sequence": "MLILMTSLAWDPTTVSTVEVLKKIDIPSVFIGESSANSLKDEFTYEKGGHLILVPEFSLPLEYYLIPFLIIVGICLILIVIFMITKFVQDRHRARRNRLRKDQLKKLPVHKFKKGDEYDVCAICLDEYEDGDKLRILPCSHAYHCKCVDP", "length": 150, "header": "tr|C9J7B4-1|RNF13_HUMAN Computationally mapped isoform of E3 ubiquitin-protein ligase RNF13 OS=Homo sapiens OX=9606 GN=RNF13 PE=1 SV=1 CANONICAL=O43567-1" }, "locus": { "chromosome": "3", "start_pos": 149960765, "end_pos": 149895519, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000467977.5", "url": "https://www.ensembl.org/id/ENST00000467977.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000418308.1", "url": "https://www.ensembl.org/id/ENSP00000418308.1" } ] } }, { "isoform_ac": "C9J8T4-1", "url": "", "sequence": { "sequence": "MLLSIGMLMLSATQVYTILTVQLFAFLNLLPVEADILAYNFENASQTFDDLPARFGYRLPAEGLKGFLINSKPENACEPIVPPPVKDNSSGTFIVLIRRLDCNFDIKVLNAQRAGYKAAIVHNVDSDDLISMGSNDIEVLKKIDIPSVFIGESSANSLKDEFT", "length": 163, "header": "tr|C9J8T4-1|RNF13_HUMAN Computationally mapped isoform of E3 ubiquitin-protein ligase RNF13 OS=Homo sapiens OX=9606 GN=RNF13 PE=1 SV=1 CANONICAL=O43567-1" }, "locus": { "chromosome": "3", "start_pos": 149902151, "end_pos": 149846027, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000466795.5", "url": "https://www.ensembl.org/id/ENST00000466795.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000417655.1", "url": "https://www.ensembl.org/id/ENSP00000417655.1" } ] } }, { "isoform_ac": "C9JCY0-1", "url": "", "sequence": { "sequence": "MLILMTSLAWDPTTVSTVEVLKKIDIPSVFIGESSANSLKDEFTYEKGGHLILVPEFSLPLEYYLIPFLIIVGICLILIVIFMITKFVQDRHRARRNRLRKDQLKKLPVHKFKKGDEYDVCAICLDEYEDGDKLRILPCSHAYHCKCVDPWLTKTKKTCPVCKQKVVPSQGDSDSDTDSSQEENEVTEHTPLLRPLASVSAQSFGALSESRSHQNMTESSDYEEDDNEDTDSS", "length": 233, "header": "tr|C9JCY0-1|RNF13_HUMAN Computationally mapped isoform of E3 ubiquitin-protein ligase RNF13 OS=Homo sapiens OX=9606 GN=RNF13 PE=1 SV=1 CANONICAL=O43567-1" }, "locus": { "chromosome": "3", "start_pos": 149961014, "end_pos": 149895519, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000491086.5", "url": "https://www.ensembl.org/id/ENST00000491086.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000420667.1", "url": "https://www.ensembl.org/id/ENSP00000420667.1" } ] } }, { "isoform_ac": "C9JRV0-1", "url": "", "sequence": { "sequence": "MLLSIGMLMLSATQVYTILTVQLFAFLNLLPVEADILAYNFENASQTFDDLPARFGYRLPAEGLKGFLINSKPENACEPIVPPPVKDNSSGTFIVLIRRLDCNFDIKVLNAQRAG", "length": 115, "header": "tr|C9JRV0-1|RNF13_HUMAN Computationally mapped isoform of E3 ubiquitin-protein ligase RNF13 OS=Homo sapiens OX=9606 GN=RNF13 PE=1 SV=1 CANONICAL=O43567-1" }, "locus": { "chromosome": "3", "start_pos": 149895496, "end_pos": 149846027, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000468648.5", "url": "https://www.ensembl.org/id/ENST00000468648.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000420067.1", "url": "https://www.ensembl.org/id/ENSP00000420067.1" } ] } }, { "isoform_ac": "C9JU37-1", "url": "", "sequence": { "sequence": "MLLSIGMLMLSATQVYTILTVQLFAFLNLLPVEADILAYNFENASQTFDDLPARFGYRLPAEGLKGFLINSK", "length": 72, "header": "tr|C9JU37-1|RNF13_HUMAN Computationally mapped isoform of E3 ubiquitin-protein ligase RNF13 OS=Homo sapiens OX=9606 GN=RNF13 PE=1 SV=1 CANONICAL=O43567-1" }, "locus": { "chromosome": "3", "start_pos": 149872049, "end_pos": 149846027, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000466478.5", "url": "https://www.ensembl.org/id/ENST00000466478.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000419508.1", "url": "https://www.ensembl.org/id/ENSP00000419508.1" } ] } }, { "isoform_ac": "C9JYN7-1", "url": "", "sequence": { "sequence": "MLLSIGMLMLSATQVYTILTVQLFAFLNLLPVEADILAYNFENASQTFDDLPARFGYRLPAEGLKGFLINSKPENACEPIVPPPVKDNSSGTFIVLIRRLDCNFDIKVLNAQRAGYKAAIVHNVDSDDLISMGSNDIEVLKKIDIPSVFIGESSANSLKDEFTYE", "length": 165, "header": "tr|C9JYN7-1|RNF13_HUMAN Computationally mapped isoform of E3 ubiquitin-protein ligase RNF13 OS=Homo sapiens OX=9606 GN=RNF13 PE=1 SV=1 CANONICAL=O43567-1" }, "locus": { "chromosome": "3", "start_pos": 149902157, "end_pos": 149846027, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000459632.5", "url": "https://www.ensembl.org/id/ENST00000459632.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000419069.1", "url": "https://www.ensembl.org/id/ENSP00000419069.1" } ] } }, { "isoform_ac": "C9JYY4-1", "url": "", "sequence": { "sequence": "MLLSIGMLMLSATQVYTILTVQLFAFLNLLPVEADILAYNFENASQTFDDLPARFGYRLPAEGLKGFLINSKPENACEPI", "length": 80, "header": "tr|C9JYY4-1|C9JYY4_HUMAN Computationally mapped isoform of Ring finger protein 13 OS=Homo sapiens OX=9606 GN=RNF13 PE=1 SV=1 CANONICAL=O43567-1" }, "locus": { "chromosome": "3", "start_pos": 149872073, "end_pos": 149846027, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000470151.5", "url": "https://www.ensembl.org/id/ENST00000470151.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000419836.1", "url": "https://www.ensembl.org/id/ENSP00000419836.1" } ] } }, { "isoform_ac": "F8WDJ5-1", "url": "", "sequence": { "sequence": "MLLSIGMLMLSATQVYTILTVQLFAFLNLLPVEADILAYNFENASQTFDDLPARFGYRLPAEGLKGFLINSKPENACEPIVPPPVKDNSSGTFIVLIRRLDCNFDIKVLNAQRAGYKAAIVHNVDSDDLISMGSNDSKYS", "length": 140, "header": "tr|F8WDJ5-1|RNF13_HUMAN Computationally mapped isoform of E3 ubiquitin-protein ligase RNF13 OS=Homo sapiens OX=9606 GN=RNF13 PE=1 SV=1 CANONICAL=O43567-1" }, "locus": { "chromosome": "3", "start_pos": 149902072, "end_pos": 149846027, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000474348.5", "url": "https://www.ensembl.org/id/ENST00000474348.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000420124.1", "url": "https://www.ensembl.org/id/ENSP00000420124.1" } ] } }, { "isoform_ac": "F8WEX6-1", "url": "", "sequence": { "sequence": "MLILMTSLAWDPTTLRY", "length": 17, "header": "tr|F8WEX6-1|RNF13_HUMAN Computationally mapped isoform of E3 ubiquitin-protein ligase RNF13 OS=Homo sapiens OX=9606 GN=RNF13 PE=1 SV=1 CANONICAL=O43567-1" }, "locus": { "chromosome": "3", "start_pos": 149902080, "end_pos": 149895519, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000467996.1", "url": "https://www.ensembl.org/id/ENST00000467996.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000419809.1", "url": "https://www.ensembl.org/id/ENSP00000419809.1" } ] } }, { "isoform_ac": "H7C5Q6-1", "url": "", "sequence": { "sequence": "XVPEFSLPLEYYLIPFLIIVGICLILIVIFMITKFVQDRHRARRNRLRKDQLKKLPVHKFKKAYHCKCVDPWLTKTKKTCPVCKQKVVPSQGDSDSDTDSSQEENEVTEHTPLLRPLASVSAQSFGALSESRSHQNMTESSDYEEDDNEDTDSSDAENEINEHDVVVQLQPNGERDYNIANTV", "length": 183, "header": "tr|H7C5Q6-1|RNF13_HUMAN Computationally mapped isoform of E3 ubiquitin-protein ligase RNF13 OS=Homo sapiens OX=9606 GN=RNF13 PE=1 SV=1 CANONICAL=O43567-1" }, "locus": { "chromosome": "3", "start_pos": 149961103, "end_pos": 149911993, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000468289.1", "url": "https://www.ensembl.org/id/ENST00000468289.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000420510.1", "url": "https://www.ensembl.org/id/ENSP00000420510.1" } ] } }, { "isoform_ac": "O43567-1", "url": "", "sequence": { "sequence": "MLLSIGMLMLSATQVYTILTVQLFAFLNLLPVEADILAYNFENASQTFDDLPARFGYRLPAEGLKGFLINSKPENACEPIVPPPVKDNSSGTFIVLIRRLDCNFDIKVLNAQRAGYKAAIVHNVDSDDLISMGSNDIEVLKKIDIPSVFIGESSANSLKDEFTYEKGGHLILVPEFSLPLEYYLIPFLIIVGICLILIVIFMITKFVQDRHRARRNRLRKDQLKKLPVHKFKKGDEYDVCAICLDEYEDGDKLRILPCSHAYHCKCVDPWLTKTKKTCPVCKQKVVPSQGDSDSDTDSSQEENEVTEHTPLLRPLASVSAQSFGALSESRSHQNMTESSDYEEDDNEDTDSSDAENEINEHDVVVQLQPNGERDYNIANTV", "length": 381, "header": "sp|O43567-1|RNF13_HUMAN Isoform 1 of E3 ubiquitin-protein ligase RNF13 OS=Homo sapiens OX=9606 GN=RNF13 PE=1 SV=1 CANONICAL=O43567-1" }, "locus": { "chromosome": "3", "start_pos": 149961101, "end_pos": 149846027, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000344229.7", "url": "https://www.ensembl.org/id/ENST00000344229.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000341361.3", "url": "https://www.ensembl.org/id/ENSP00000341361.3" } ] } }, { "isoform_ac": "O43567-2", "url": "", "sequence": { "sequence": "MLILMTSLAWDPTTVSTVEVLKKIDIPSVFIGESSANSLKDEFTYEKGGHLILVPEFSLPLEYYLIPFLIIVGICLILIVIFMITKFVQDRHRARRNRLRKDQLKKLPVHKFKKGDEYDVCAICLDEYEDGDKLRILPCSHAYHCKCVDPWLTKTKKTCPVCKQKVVPSQGDSDSDTDSSQEENEVTEHTPLLRPLASVSAQSFGALSESRSHQNMTESSDYEEDDNEDTDSSDAENEINEHDVVVQLQPNGERDYNIANTV", "length": 262, "header": "sp|O43567-2|RNF13_HUMAN Isoform 2 of E3 ubiquitin-protein ligase RNF13 OS=Homo sapiens OX=9606 GN=RNF13 PE=1 SV=1 CANONICAL=O43567-1" }, "locus": { "chromosome": "3", "start_pos": 149961101, "end_pos": 149895519, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000361785.10", "url": "https://www.ensembl.org/id/ENST00000361785.10" }, { "database": "Ensembl Peptide", "id": "ENSP00000355268.6", "url": "https://www.ensembl.org/id/ENSP00000355268.6" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 70, "start_aa": "Asn", "end_pos": 70, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn70", "evidence": [ { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 75, "start_aa": "Asn", "end_pos": 75, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn75", "evidence": [ { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 88, "start_aa": "Asn", "end_pos": 88, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn88", "evidence": [ { "id": "O43567", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O43567#ptm_processing" }, { "id": "18794910", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/18794910" }, { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 89, "start_aa": "Ser", "end_pos": 89, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser89", "evidence": [ { "id": "O43567", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O43567" }, { "id": "29485866", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29485866" }, { "id": "28657654", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28657654" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "enzyme", "glycoprotein", "glycoprotein_reported", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "The role of metallothionein in the pathogenesis of acute lung injury.", "journal": "American journal of respiratory cell and molecular biology", "date": "2006", "authors": "Wesselkamper SC, McDowell SA, Medvedovic M, Dalton TP, Deshmukh HS, Sartor MA, Case LM, Henning LN, Borchers MT, Tomlinson CR, Prows DR, Leikauf GD", "evidence": [ { "database": "RefSeq", "id": "NP_009213", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_009213" } ], "reference": [ { "type": "PubMed", "id": "16166738", "url": "https://glygen.org/publication/PubMed/16166738" } ] }, { "title": "Integral and associated lysosomal membrane proteins.", "journal": "Traffic", "date": "2007", "authors": "Schroder B, Wrocklage C, Pan C, Jager R, Kosters B, Schafer H, Elsasser HP, Mann M, Hasilik A", "evidence": [ { "database": "UniProtKB", "id": "O43567", "url": "https://www.uniprot.org/uniprot/O43567" } ], "reference": [ { "type": "PubMed", "id": "17897319", "url": "https://glygen.org/publication/PubMed/17897319" } ] }, { "title": "RNF13: a novel RING-type ubiquitin ligase over-expressed in pancreatic cancer.", "journal": "Cell research", "date": "2009", "authors": "Zhang Q, Meng Y, Zhang L, Chen J, Zhu D", "evidence": [ { "database": "UniProtKB", "id": "O43567", "url": "https://www.uniprot.org/uniprot/O43567#ptm_processing" }, { "database": "UniProtKB", "id": "O43567", "url": "https://www.uniprot.org/uniprot/O43567" }, { "database": "RefSeq", "id": "NP_009213", "url": 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"journal": "American journal of human genetics", "date": "2019", "authors": "Edvardson S, Nicolae CM, Noh GJ, Burton JE, Punzi G, Shaag A, Bischetsrieder J, De Grassi A, Pierri CL, Elpeleg O, Moldovan GL", "evidence": [ { "database": "UniProtKB", "id": "O43567", "url": "https://www.uniprot.org/uniprot/O43567" } ], "reference": [ { "type": "PubMed", "id": "30595371", "url": "https://glygen.org/publication/PubMed/30595371" } ] }, { "title": "The Regulation of circRNA RNF13/miRNA-1224-5p Axis Promotes the Malignant Evolution in Acute Myeloid Leukemia.", "journal": "BioMed research international", "date": "2020", "authors": "Zhang R, Li Y, Wang H, Zhu K, Zhang G", "evidence": [ { "database": "RefSeq", "id": "NP_009213", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_009213" } ], "reference": [ { "type": "PubMed", "id": "33083473", "url": "https://glygen.org/publication/PubMed/33083473" } ] }, { "title": "MiR-32-3p Regulates Myocardial Injury Induced by Microembolism and Microvascular 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