{ "uniprot_canonical_ac": "O95391-1", "uniprot_ac": "O95391", "uniprot_id": "SLU7_HUMAN", "mass": { "chemical_mass": 68387.0, "monoisotopic_mass": 68387.0 }, "refseq": { "ac": "NP_006416", "name": "pre-mRNA-splicing factor SLU7 isoform b", "summary": "Pre-mRNA splicing occurs in two sequential transesterification steps. The protein encoded by this gene is a splicing factor that has been found to be essential during the second catalytic step in the pre-mRNA splicing process. It associates with the spliceosome and contains a zinc knuckle motif that is found in other splicing factors and is involved in protein-nucleic acid and protein-protein interactions. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006416" }, "gene_names": [ { "name": "SLU7", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O95391", "id": "O95391" }, { "name": "9G8; hSlu7", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006416", "id": "NP_006416" }, { "name": "SLU7", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006416", "id": "NP_006416" } ], "protein_names": [ { "name": "Pre-mRNA-splicing factor SLU7", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O95391" }, { "name": "hSlu7", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95391" }, { "name": "pre-mRNA-splicing factor SLU7 isoform b", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006416", "id": "NP_006416" }, { "name": "step II splicing factor SLU7; zinc knuckle motif containing; pre-mRNA-splicing factor SLU7; SLU7 splicing factor homolog", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006416", "id": "NP_006416" } ], "function": [ { "annotation": "Involved in pre-mRNA splicing.", "evidence": [ { "database": "UniProtKB", "id": "E5RGM7", "url": "https://www.uniprot.org/uniprot/E5RGM7#function" }, { "database": "UniProtKB", "id": "RU367071", "url": "https://www.uniprot.org/uniprot/RU367071#function" }, { "database": "UniProtKB", "id": "A0A0C4DGD2", "url": "https://www.uniprot.org/uniprot/A0A0C4DGD2#function" }, { "database": "UniProtKB", "id": "E5RK41", "url": "https://www.uniprot.org/uniprot/E5RK41#function" } ] }, { "annotation": "Pre-mRNA splicing occurs in two sequential transesterification steps. The protein encoded by this gene is a splicing factor that has been found to be essential during the second catalytic step in the pre-mRNA splicing process. It associates with the spliceosome and contains a zinc knuckle motif that is found in other splicing factors and is involved in protein-nucleic acid and protein-protein interactions. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_006416", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006416" } ] }, { "annotation": "Required for pre-mRNA splicing as component of the spliceosome (PubMed:10197984, PubMed:28502770, PubMed:30705154). Participates in the second catalytic step of pre-mRNA splicing, when the free hydroxyl group of exon I attacks the 3'-splice site to generate spliced mRNA and the excised lariat intron. Required for holding exon 1 properly in the spliceosome and for correct AG identification when more than one possible AG exists in 3'-splicing site region. May be involved in the activation of proximal AG. Probably also involved in alternative splicing regulation.", "evidence": [ { "database": "UniProtKB", "id": "O95391", "url": "https://www.uniprot.org/uniprot/O95391#function" }, { "database": "PubMed", "id": "10647016", "url": "https://glygen.org/publication/PubMed/10647016" }, { "database": "PubMed", "id": "15728250", "url": "https://glygen.org/publication/PubMed/15728250" }, { "database": "PubMed", "id": "10197984", "url": "https://glygen.org/publication/PubMed/10197984" }, { "database": "PubMed", "id": "12764196", "url": "https://glygen.org/publication/PubMed/12764196" }, { "database": "PubMed", "id": "15181151", "url": "https://glygen.org/publication/PubMed/15181151" }, { "database": "PubMed", "id": "28502770", "url": "https://glygen.org/publication/PubMed/28502770" }, { "database": "PubMed", "id": "30705154", "url": "https://glygen.org/publication/PubMed/30705154" } ] }, { "annotation": "SLU7: A New Hub of Gene Expression Regulation-From Epigenetics to Protein Stability in Health and Disease. Review article Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_006416", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006416" }, { "database": "PubMed", "id": "36362191", "url": "https://glygen.org/publication/PubMed/36362191" } ] }, { "annotation": "Splicing Factor SLU7 Prevents Oxidative Stress-Mediated Hepatocyte Nuclear Factor 4alpha Degradation, Preserving Hepatic Differentiation and Protecting From Liver Damage.", "evidence": [ { "database": "RefSeq", "id": "NP_006416", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006416" }, { "database": "PubMed", "id": "34170569", "url": "https://glygen.org/publication/PubMed/34170569" } ] }, { "annotation": "The splicing regulator SLU7 is required to preserve DNMT1 protein stability and DNA methylation.", "evidence": [ { "database": "RefSeq", "id": "NP_006416", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006416" }, { "database": "PubMed", "id": "34331453", "url": "https://glygen.org/publication/PubMed/34331453" } ] }, { "annotation": "The zinc-knuckle motif of hSlu7 determines the cellular localization of the protein through a nucleocytoplasmic-sensitive shuttling balance.", "evidence": [ { "database": "RefSeq", "id": "NP_006416", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006416" }, { "database": "PubMed", "id": "15181151", "url": "https://glygen.org/publication/PubMed/15181151" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "O95391", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O95391" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 110, "end_pos": 110, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "F", "comment": "Somatic mutation passed 1 out of 6 filters: o-glyco-site-loss (S->F).", "chr_id": "5", "chr_pos": "160413975", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S110", "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": "O95391", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O95391" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 110, "end_pos": 110, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "P", "comment": "Somatic mutation passed 1 out of 6 filters: o-glyco-site-loss (S->P).", "chr_id": "5", "chr_pos": "160413976", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "S110", "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": "rs746681079", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746681079" }, { "id": "rs746681079", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746681079" }, { "id": "rs746681079", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs746681079" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 111, "end_pos": 111, "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NSI->NST).", "chr_id": "5", "chr_pos": "160413972", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I111", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1451866818", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1451866818" }, { "id": "rs1451866818", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1451866818" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 12, "end_pos": 12, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NAA->NAT).", "chr_id": "5", "chr_pos": "160415261", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A12", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs745954645", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs745954645" }, { "id": "rs745954645", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs745954645" }, { "id": "rs745954645", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs745954645" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 192, "end_pos": 192, "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (KRT->NRT).", "chr_id": "5", "chr_pos": "160412514", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K192", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs770816736", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770816736" }, { "id": "rs770816736", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770816736" }, { "id": "rs770816736", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs770816736" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 555, "end_pos": 555, "sequence_org": "M", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NSM->NST).", "chr_id": "5", "chr_pos": "160403382", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M555", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [ { "start_pos": 116, "end_pos": 116, "sequence_org": "R", "sequence_mut": "N", "comment": "Abolishes nuclear localization.", "evidence": [ { "database": "UniProtKB", "id": "O95391", "url": "https://www.uniprot.org/uniprot/O95391" }, { "database": "PubMed", "id": "15181151", "url": "https://glygen.org/publication/PubMed/15181151" } ] }, { "start_pos": 117, "end_pos": 117, "sequence_org": "K", "sequence_mut": "N", "comment": "Abolishes nuclear localization.", "evidence": [ { "database": "UniProtKB", "id": "O95391", "url": "https://www.uniprot.org/uniprot/O95391" }, { "database": "PubMed", "id": "15181151", "url": "https://glygen.org/publication/PubMed/15181151" } ] }, { "start_pos": 120, "end_pos": 120, "sequence_org": "C", "sequence_mut": "S", "comment": "Induces a cytoplasmic localization; when associated with S-123; G-128 and S-133.", "evidence": [ { "database": "UniProtKB", "id": "O95391", "url": "https://www.uniprot.org/uniprot/O95391" }, { "database": "PubMed", "id": "15181151", "url": "https://glygen.org/publication/PubMed/15181151" } ] }, { "start_pos": 123, "end_pos": 123, "sequence_org": "C", "sequence_mut": "S", "comment": "Induces a cytoplasmic localization; when associated with S-120; G-128 and S-133.", "evidence": [ { "database": "UniProtKB", "id": "O95391", "url": "https://www.uniprot.org/uniprot/O95391" }, { "database": "PubMed", "id": "15181151", "url": "https://glygen.org/publication/PubMed/15181151" } ] }, { "start_pos": 125, "end_pos": 126, "sequence_org": "AM", "sequence_mut": "VP", "comment": "Does not affect nuclear localization.", "evidence": [ { "database": "UniProtKB", "id": "O95391", "url": "https://www.uniprot.org/uniprot/O95391" }, { "database": "PubMed", "id": "15181151", "url": "https://glygen.org/publication/PubMed/15181151" } ] }, { "start_pos": 128, "end_pos": 128, "sequence_org": "H", "sequence_mut": "G", "comment": "Induces a cytoplasmic localization; when associated with S-120; S-123 and S-133.", "evidence": [ { "database": "UniProtKB", "id": "O95391", "url": "https://www.uniprot.org/uniprot/O95391" }, { "database": "PubMed", "id": "15181151", "url": "https://glygen.org/publication/PubMed/15181151" } ] }, { "start_pos": 129, "end_pos": 129, "sequence_org": "K", "sequence_mut": "N", "comment": "Abolishes nuclear localization.", "evidence": [ { "database": "UniProtKB", "id": "O95391", "url": "https://www.uniprot.org/uniprot/O95391" }, { "database": "PubMed", "id": "15181151", "url": "https://glygen.org/publication/PubMed/15181151" } ] }, { "start_pos": 133, "end_pos": 133, "sequence_org": "C", "sequence_mut": "S", "comment": "Induces a cytoplasmic localization; when associated with S-120; S-123 and G-128.", "evidence": [ { "database": "UniProtKB", "id": "O95391", "url": "https://www.uniprot.org/uniprot/O95391" }, { "database": "PubMed", "id": "15181151", "url": "https://glygen.org/publication/PubMed/15181151" } ] }, { "start_pos": 136, "end_pos": 136, "sequence_org": "R", "sequence_mut": "N", "comment": "Abolishes nuclear localization.", "evidence": [ { "database": "UniProtKB", "id": "O95391", "url": "https://www.uniprot.org/uniprot/O95391" } ] }, { "start_pos": 166, "end_pos": 166, "sequence_org": "K", "sequence_mut": "N", "comment": "Abolishes nuclear localization.", "evidence": [ { "database": "UniProtKB", "id": "O95391", "url": "https://www.uniprot.org/uniprot/O95391" }, { "database": "PubMed", "id": "15181151", "url": "https://glygen.org/publication/PubMed/15181151" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "89.42", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000164609", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000164609" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "91.44", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000164609", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000164609" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "86.2", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000164609", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000164609" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "94.61", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000164609", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000164609" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "92.98", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000164609", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000164609" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "92.02", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000164609", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000164609" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "92.12", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000164609", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000164609" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "90.75", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000164609", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000164609" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "90.81", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000164609", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000164609" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "92.43", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000164609", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000164609" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O95391", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95391" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": 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"https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, 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"https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", 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"resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "No", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O95391", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95391" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", 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"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": 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"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 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"id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine 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}, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": 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"description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O95391", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95391" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "O95391", "url": 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"header": "tr|A0A0C4DGD2-1|SLU7_HUMAN Computationally mapped isoform of Pre-mRNA-splicing factor SLU7 OS=Homo sapiens OX=9606 GN=SLU7 PE=1 SV=1 CANONICAL=O95391-1" }, "locus": { "chromosome": "5", "start_pos": 160415294, "end_pos": 160414340, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000520664.1", "url": "https://www.ensembl.org/id/ENST00000520664.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000428362.1", "url": "https://www.ensembl.org/id/ENSP00000428362.1" } ] } }, { "isoform_ac": "E5RGM7-1", "url": "", "sequence": { "sequence": "MSATVVDAVNAAPLSGSKEMSLEEPKKMTREDWRKKKELEEQRKLGNAPAEVDEEGKDINPHIPQYISSVPWYIDPSKRPTLKHQRPQPEKQKQFSSSGEWYKRGVKENSIITKYRKGACENCG", "length": 124, "header": "tr|E5RGM7-1|SLU7_HUMAN Computationally mapped isoform of Pre-mRNA-splicing factor SLU7 OS=Homo sapiens OX=9606 GN=SLU7 PE=1 SV=1 CANONICAL=O95391-1" }, "locus": { "chromosome": "5", "start_pos": 160415294, "end_pos": 160413932, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000519349.5", "url": "https://www.ensembl.org/id/ENST00000519349.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000429990.1", "url": "https://www.ensembl.org/id/ENSP00000429990.1" } ] } }, { "isoform_ac": "E5RK41-1", "url": "", "sequence": { "sequence": "MSATVVDAVNAAPLSGSKEMSLEEPKKMTREDWRKKKELEEQRKLGNAPAEVDEEGKDINPHIPQYISSVPWYIDPSKRPTLKHQRPQPEKQKQFSSSGEWYKRGVKENSIITKYRKGACENCGAMTHKKKDCFERPRRVGAK", "length": 143, "header": "tr|E5RK41-1|E5RK41_HUMAN Computationally mapped isoform of Pre-mRNA-splicing factor SLU7 OS=Homo sapiens OX=9606 GN=SLU7 PE=1 SV=1 CANONICAL=O95391-1" }, "locus": { "chromosome": "5", "start_pos": 160415294, "end_pos": 160413597, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000521826.5", "url": "https://www.ensembl.org/id/ENST00000521826.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000428943.1", "url": "https://www.ensembl.org/id/ENSP00000428943.1" } ] } }, { "isoform_ac": "O95391-1", "url": "", "sequence": { "sequence": "MSATVVDAVNAAPLSGSKEMSLEEPKKMTREDWRKKKELEEQRKLGNAPAEVDEEGKDINPHIPQYISSVPWYIDPSKRPTLKHQRPQPEKQKQFSSSGEWYKRGVKENSIITKYRKGACENCGAMTHKKKDCFERPRRVGAKFTGTNIAPDEHVQPQLMFDYDGKRDRWNGYNPEEHMKIVEEYAKVDLAKRTLKAQKLQEELASGKLVEQANSPKHQWGEEEPNSQMEKDHNSEDEDEDKYADDIDMPGQNFDSKRRITVRNLRIREDIAKYLRNLDPNSAYYDPKTRAMRENPYANAGKNPDEVSYAGDNFVRYTGDTISMAQTQLFAWEAYDKGSEVHLQADPTKLELLYKSFKVKKEDFKEQQKESILEKYGGQEHLDAPPAELLLAQTEDYVEYSRHGTVIKGQERAVACSKYEEDVKIHNHTHIWGSYWKEGRWGYKCCHSFFKYSYCTGEAGKEIVNSEECIINEITGEESVKKPQTLMELHQEKLKEEKKKKKKKKKKHRKSSSDSDDEEKKHEKLKKALNAEEARLLHVKETMQIDERKRPYNSMYETREPTEEEMEAYRMKRQRPDDPMASFLGQ", "length": 586, "header": "sp|O95391-1|SLU7_HUMAN Isoform 1 of Pre-mRNA-splicing factor SLU7 OS=Homo sapiens OX=9606 GN=SLU7 PE=1 SV=2 CANONICAL=O95391-1" }, "locus": { "chromosome": "5", "start_pos": 160415294, "end_pos": 160403288, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000297151.9", "url": "https://www.ensembl.org/id/ENST00000297151.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000297151.4", "url": "https://www.ensembl.org/id/ENSP00000297151.4" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 110, "start_aa": "Ser", "end_pos": 110, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser110", "evidence": [ { "id": "O95391", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O95391" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "O95391", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O95391" } ] } ], "phosphorylation": [ { "start_pos": 110, "end_pos": 110, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O95391", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95391" }, { "database": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" } ], "site_lbl": "Ser110" }, { "start_pos": 15, "end_pos": 15, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O95391", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95391" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser15" }, { "start_pos": 215, "end_pos": 215, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O95391", "url": "https://www.uniprot.org/uniprot/O95391" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" }, { "database": "PubMed", "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "PubMed", "id": "16964243", "url": "https://glygen.org/publication/PubMed/16964243" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" }, { "database": "iPTMnet", "id": "O95391", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95391" }, { "database": "PubMed", "id": "17924679", "url": "https://glygen.org/publication/PubMed/17924679" }, { "database": "PubMed", "id": "19007248", "url": "https://glygen.org/publication/PubMed/19007248" }, { "database": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" }, { "database": "PubMed", "id": "19664995", "url": "https://glygen.org/publication/PubMed/19664995" }, { "database": "PubMed", "id": "20166139", "url": "https://glygen.org/publication/PubMed/20166139" }, { "database": "phospho.ELM", "id": "O95391", "url": "http://phospho.elm.eu.org/byAccession/O95391.html" } ], "site_lbl": "Ser215" }, { "start_pos": 227, "end_pos": 227, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O95391", "url": "https://www.uniprot.org/uniprot/O95391" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "O95391", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95391" } ], "site_lbl": "Ser227" }, { "start_pos": 235, "end_pos": 235, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O95391", "url": "https://www.uniprot.org/uniprot/O95391" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" }, { "database": "iPTMnet", "id": "O95391", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95391" }, { "database": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" } ], "site_lbl": "Ser235" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Human step II splicing factor hSlu7 functions in restructuring the spliceosome between the catalytic steps of splicing.", "journal": "Genes & development", "date": "1999", "authors": "Chua K, Reed R", "evidence": [ { "database": "UniProtKB", "id": "O95391", "url": "https://www.uniprot.org/uniprot/O95391" } ], "reference": [ { "type": "PubMed", "id": "10197984", "url": "https://glygen.org/publication/PubMed/10197984" } ] }, { "title": "The Mex67p-mediated nuclear mRNA export pathway is conserved from yeast to human.", "journal": "The EMBO journal", "date": "1999", "authors": "Katahira J, Strasser K, Podtelejnikov A, Mann M, Jung JU, Hurt E", "evidence": [ { "database": "Reactome", "id": "R-HSA-159236", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-159236" } ], "reference": [ { "type": "PubMed", "id": "10228171", "url": "https://glygen.org/publication/PubMed/10228171" } ] }, { "title": "The human Tap protein is a nuclear mRNA export factor that contains novel RNA-binding and nucleocytoplasmic transport sequences.", "journal": "Genes & development", "date": "1999", "authors": "Kang Y, Cullen BR", "evidence": [ { "database": "Reactome", "id": "R-HSA-159236", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-159236" } ], "reference": [ { "type": "PubMed", "id": "10323864", "url": "https://glygen.org/publication/PubMed/10323864" } ] }, { "title": "Formation of mRNA 3' ends in eukaryotes: mechanism, regulation, and interrelationships with other steps in mRNA synthesis.", "journal": "Microbiology and molecular biology reviews : MMBR", "date": "1999", "authors": "Zhao J, Hyman L, Moore C", "evidence": [ { "database": "Reactome", "id": "R-HSA-72187", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72187" } ], "reference": [ { "type": "PubMed", "id": "10357856", "url": 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correct 3' splice-site choice.", "journal": "Nature", "date": "1999-11-11", "authors": "Chua K, Reed R", "evidence": [ { "database": "UniProtKB", "id": "O95391", "url": "https://www.uniprot.org/uniprot/O95391" } ], "reference": [ { "type": "PubMed", "id": "10647016", "url": "https://glygen.org/publication/PubMed/10647016" } ] }, { "title": "The C-terminal domain of TAP interacts with the nuclear pore complex and promotes export of specific CTE-bearing RNA substrates.", "journal": "RNA (New York, N.Y.)", "date": "2000", "authors": "Bachi A, Braun IC, Rodrigues JP, Pante N, Ribbeck K, von Kobbe C, Kutay U, Wilm M, Gorlich D, Carmo-Fonseca M, Izaurralde E", "evidence": [ { "database": "Reactome", "id": "R-HSA-159236", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-159236" } ], "reference": [ { "type": "PubMed", "id": "10668806", "url": "https://glygen.org/publication/PubMed/10668806" } ] }, { "title": "Functional association of U2 snRNP with the ATP-independent spliceosomal complex E.", "journal": "Molecular cell", "date": "2000", "authors": "Das R, Zhou Z, Reed R", "evidence": [ { "database": "Reactome", "id": "R-HSA-72163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163" } ], "reference": [ { "type": "PubMed", "id": "10882114", "url": "https://glygen.org/publication/PubMed/10882114" } ] }, { "title": "The protein Aly links pre-messenger-RNA splicing to nuclear export in metazoans.", "journal": "Nature", "date": "2000", "authors": "Zhou Z, Luo MJ, Straesser K, Katahira J, Hurt E, Reed R", "evidence": [ { "database": "Reactome", "id": "R-HSA-72163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163" } ], "reference": [ { "type": "PubMed", "id": "11014198", "url": "https://glygen.org/publication/PubMed/11014198" } ] }, { "title": "TAP (NXF1) belongs to a multigene family of putative RNA export factors with a conserved modular architecture.", "journal": "Molecular and cellular biology", "date": "2000", "authors": "Herold A, Suyama M, Rodrigues JP, Braun IC, Kutay U, Carmo-Fonseca M, Bork P, Izaurralde E", "evidence": [ { "database": "Reactome", "id": "R-HSA-159236", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-159236" } ], "reference": [ { "type": "PubMed", "id": "11073998", "url": "https://glygen.org/publication/PubMed/11073998" } ] }, { "title": "Functional analysis of the human CDC5L complex and identification of its components by mass spectrometry.", "journal": "The EMBO journal", "date": "2000", "authors": "Ajuh P, Kuster B, Panov K, Zomerdijk JC, Mann M, Lamond AI", "evidence": [ { "database": "Reactome", "id": "R-HSA-72163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163" } ], "reference": [ { "type": "PubMed", "id": "11101529", "url": "https://glygen.org/publication/PubMed/11101529" } ] }, { "title": "The 100-kda U5 snRNP protein (hPrp28p) contacts the 5' splice site through its ATPase site.", "journal": "RNA (New York, N.Y.)", "date": "2001", "authors": "Ismaili N, Sha M, Gustafson EH, Konarska MM", "evidence": [ { "database": "Reactome", "id": "R-HSA-72163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163" } ], "reference": [ { "type": "PubMed", "id": "11233976", "url": "https://glygen.org/publication/PubMed/11233976" } ] }, { "title": "Prediction of structural domains of TAP reveals details of its interaction with p15 and nucleoporins.", "journal": "EMBO reports", "date": "2000", "authors": "Suyama M, Doerks T, Braun IC, Sattler M, Izaurralde E, Bork P", "evidence": [ { "database": "Reactome", "id": "R-HSA-159236", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-159236" } ], "reference": [ { "type": "PubMed", "id": "11256625", "url": "https://glygen.org/publication/PubMed/11256625" } ] }, { "title": "Overexpression of TAP/p15 heterodimers bypasses nuclear retention and stimulates nuclear mRNA export.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Braun IC, Herold A, Rode M, Conti E, Izaurralde E", "evidence": [ { "database": "Reactome", "id": "R-HSA-159236", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-159236" } ], "reference": [ { "type": "PubMed", "id": "11259411", "url": "https://glygen.org/publication/PubMed/11259411" } ] }, { "title": "NXT1 (p15) is a crucial cellular cofactor in TAP-dependent export of intron-containing RNA in mammalian cells.", "journal": "Molecular and cellular biology", "date": "2001", "authors": "Guzik BW, Levesque L, Prasad S, Bor YC, Black BE, Paschal BM, Rekosh D, Hammarskjold ML", "evidence": [ { "database": "Reactome", "id": "R-HSA-159236", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-159236" } ], "reference": [ { "type": "PubMed", "id": "11259602", "url": "https://glygen.org/publication/PubMed/11259602" } ] }, { "title": "RNA export mediated by tap involves NXT1-dependent interactions with the nuclear pore complex.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Levesque L, Guzik B, Guan T, Coyle J, Black BE, Rekosh D, Hammarskjold ML, Paschal BM", "evidence": [ { "database": "Reactome", "id": "R-HSA-159236", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-159236" } ], "reference": [ { "type": "PubMed", "id": "11579093", "url": "https://glygen.org/publication/PubMed/11579093" } ] }, { "title": "Formation of Tap/NXT1 heterodimers activates Tap-dependent nuclear mRNA export by enhancing recruitment to nuclear pore complexes.", "journal": "Molecular and cellular biology", "date": "2002", "authors": "Wiegand HL, Coburn GA, Zeng Y, Kang Y, Bogerd HP, Cullen BR", "evidence": [ { "database": "Reactome", "id": "R-HSA-159236", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-159236" } ], "reference": [ { "type": "PubMed", "id": "11739738", "url": "https://glygen.org/publication/PubMed/11739738" } ] }, { "title": "Complex formation between Tap and p15 affects binding to FG-repeat nucleoporins and nucleocytoplasmic shuttling.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Katahira J, Straesser K, Saiwaki T, Yoneda Y, Hurt E", "evidence": [ { "database": "Reactome", "id": "R-HSA-159236", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-159236" } ], "reference": [ { "type": "PubMed", "id": "11756420", "url": "https://glygen.org/publication/PubMed/11756420" } ] }, { "title": "TREX is a conserved complex coupling transcription with messenger RNA export.", "journal": "Nature", "date": "2002", "authors": "Strasser K, Masuda S, Mason P, Pfannstiel J, Oppizzi M, Rodriguez-Navarro S, Rondon AG, Aguilera A, Struhl K, Reed R, Hurt E", "evidence": [ { "database": "Reactome", "id": "R-HSA-72187", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72187" } ], "reference": [ { "type": "PubMed", "id": "11979277", "url": "https://glygen.org/publication/PubMed/11979277" } ] }, { "title": "Purification and characterization of native spliceosomes suitable for three-dimensional structural analysis.", "journal": "RNA (New 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M", "evidence": [ { "database": "Reactome", "id": "R-HSA-72163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163" } ], "reference": [ { "type": "PubMed", "id": "12176931", "url": "https://glygen.org/publication/PubMed/12176931" } ] }, { "title": "Small nuclear ribonucleoprotein remodeling during catalytic activation of the spliceosome.", "journal": "Science (New York, N.Y.)", "date": "2002", "authors": "Makarov EM, Makarova OV, Urlaub H, Gentzel M, Will CL, Wilm M, Luhrmann R", "evidence": [ { "database": "Reactome", "id": "R-HSA-72163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163" } ], "reference": [ { "type": "PubMed", "id": "12411573", "url": "https://glygen.org/publication/PubMed/12411573" } ] }, { "title": "5' exon interactions within the human spliceosome establish a framework for exon junction complex structure and assembly.", "journal": "Genes & development", "date": "2002", "authors": "Reichert VL, Le Hir H, Jurica MS, Moore MJ", "evidence": [ { 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snRNP in the presence of covalent inhibitors.", "journal": "Nature communications", "date": "2021", "authors": "Cretu C, Gee P, Liu X, Agrawal A, Nguyen TV, Ghosh AK, Cook A, Jurica M, Larsen NA, Pena V", "evidence": [ { "database": "Reactome", "id": "R-HSA-72163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163" } ], "reference": [ { "type": "PubMed", "id": "34301950", "url": "https://glygen.org/publication/PubMed/34301950" } ] }, { "title": "The splicing regulator SLU7 is required to preserve DNMT1 protein stability and DNA methylation.", "journal": "Nucleic acids research", "date": "2021", "authors": "Recalde M, Garate-Rascon M, Elizalde M, Azkona M, Latasa MU, Barcena-Varela M, Sangro B, Fernandez-Barrena MG, Avila MA, Arechederra M, Berasain C", "evidence": [ { "database": "RefSeq", "id": "NP_006416", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006416" } ], "reference": [ { "type": "PubMed", "id": "34331453", "url": "https://glygen.org/publication/PubMed/34331453" 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Disease.", "journal": "International journal of molecular sciences", "date": "2022-11-02", "authors": "G\u00e1rate-Rasc\u00f3n Mar\u00eda, Recalde Miriam, Rojo Carla, Fern\u00e1ndez-Barrena Maite G, \u00c1vila Mat\u00edas A, Arechederra Mar\u00eda, Berasain Carmen", "evidence": [ { "database": "RefSeq", "id": "NP_006416", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006416" } ], "reference": [ { "type": "PubMed", "id": "36362191", "url": "https://glygen.org/publication/PubMed/36362191" } ] }, { "title": "A compensatory base change in U1 snRNA suppresses a 5' splice site mutation.", "journal": "Cell", "date": "1986", "authors": "Zhuang Y, Weiner AM", "evidence": [ { "database": "Reactome", "id": "R-HSA-72163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163" } ], "reference": [ { "type": "PubMed", "id": "3757028", "url": "https://glygen.org/publication/PubMed/3757028" } ] }, { "title": "Evidence that sequence-independent binding of highly conserved U2 snRNP proteins 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