{ "uniprot_canonical_ac": "O43395-1", "uniprot_ac": "O43395", "uniprot_id": "PRPF3_HUMAN", "mass": { "chemical_mass": 77529.0, "monoisotopic_mass": 77529.0 }, "refseq": { "ac": "NP_004689", "name": "U4/U6 small nuclear ribonucleoprotein Prp3 isoform 1", "summary": "The removal of introns from nuclear pre-mRNAs occurs on complexes called spliceosomes, which are made up of 4 small nuclear ribonucleoprotein (snRNP) particles and an undefined number of transiently associated splicing factors. This gene product is one of several proteins that associate with U4 and U6 snRNPs. Mutations in this gene are associated with retinitis pigmentosa-18. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004689" }, "gene_names": [ { "name": "PRPF3", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O43395", "id": "O43395" }, { "name": "HPRP3; HPRP3P; PRP3; Prp3p; RP18; SNRNP90", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004689", "id": "NP_004689" }, { "name": "HPRP3", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O43395", "id": "O43395" }, { "name": "PRP3", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O43395", "id": "O43395" }, { "name": "PRPF3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004689", "id": "NP_004689" } ], "protein_names": [ { "name": "U4/U6 small nuclear ribonucleoprotein Prp3", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O43395" }, { "name": "Pre-mRNA-splicing factor 3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43395" }, { "name": "U4/U6 small nuclear ribonucleoprotein Prp3 isoform 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004689", "id": "NP_004689" }, { "name": "U4/U6 snRNP 90 kDa protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43395" }, { "name": "U4/U6-associated RNA splicing factor; U4/U6 small nuclear ribonucleoprotein Prp3; pre-mRNA-splicing factor 3; U4/U6 snRNP 90 kDa protein; PRP3 pre-mRNA processing factor 3 homolog", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004689", "id": "NP_004689" }, { "name": "hPrp3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43395" } ], "function": [ { "annotation": "Plays a role in pre-mRNA splicing as component of the U4/U6-U5 tri-snRNP complex that is involved in spliceosome assembly, and as component of the precatalytic spliceosome (spliceosome B complex).", "evidence": [ { "database": "UniProtKB", "id": "O43395", "url": "https://www.uniprot.org/uniprot/O43395#function" }, { "database": "PubMed", "id": "28781166", "url": "https://glygen.org/publication/PubMed/28781166" }, { "database": "PubMed", "id": "26912367", "url": "https://glygen.org/publication/PubMed/26912367" }, { "database": "PubMed", "id": "20595234", "url": "https://glygen.org/publication/PubMed/20595234" } ] }, { "annotation": "Results from whole-exome sequencing identified 2 variants c.1345C > G (p.R449G) and c.1532A > C (p.H511P) in PRPF3 which co-segregate with retinitis pigmentosa in two families respectively. Erratum:[Sci Rep. 2017 Mar 28;7:45248. PMID: 28350375] Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_004689", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004689" }, { "database": "PubMed", "id": "27886254", "url": "https://glygen.org/publication/PubMed/27886254" } ] }, { "annotation": "SUMO conjugation plays a role during mRNA splicing processes including a role for Prp3 SUMOylation in U4/U6*U5 tri-snRNP formation and/or recruitment.", "evidence": [ { "database": "RefSeq", "id": "NP_004689", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004689" }, { "database": "PubMed", "id": "28379520", "url": "https://glygen.org/publication/PubMed/28379520" } ] }, { "annotation": "The removal of introns from nuclear pre-mRNAs occurs on complexes called spliceosomes, which are made up of 4 small nuclear ribonucleoprotein (snRNP) particles and an undefined number of transiently associated splicing factors. This gene product is one of several proteins that associate with U4 and U6 snRNPs. Mutations in this gene are associated with retinitis pigmentosa-18. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_004689", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004689" } ] } ], "disease": [ { "disease_id": "DOID:0110356", "recommended_name": { "id": "DOID:0110356", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110356", "name": "retinitis pigmentosa 18", "description": "A retinitis pigmentosa that has_material_basis_in mutation in the PRPF3 gene on chromosome 1q21." }, "synonyms": [ { "id": "DOID:0110356", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110356", "name": "RP18", "description": "" }, { "id": "MONDO:0011075", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011075", "name": "retinitis pigmentosa 18", "description": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF3 gene." }, { "id": "MONDO:0011075", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011075", "name": "PRPF3 retinitis pigmentosa", "description": "" }, { "id": "MONDO:0011075", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011075", "name": "RP18", "description": "" }, { "id": "MONDO:0011075", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011075", "name": "retinitis pigmentosa 18", "description": "" }, { "id": "MONDO:0011075", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011075", "name": "retinitis pigmentosa caused by mutation in PRPF3", "description": "" }, { "id": "MONDO:0011075", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011075", "name": "retinitis pigmentosa type 18", "description": "" }, { "id": "MONDO:0011075", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011075", "name": "RP 18", "description": "" }, { "id": "MIM:601414", "resource": "MIM", "url": "https://www.omim.org/entry/601414", "name": "Retinitis pigmentosa 18", "description": "Retinitis pigmentosa 18" } ], "evidence": [ { "id": "601414", "database": "MIM", "url": "https://www.omim.org/entry/601414" } ] } ], "snv": [ { "evidence": [ { "id": "rs1656586815", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1656586815" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 174, "end_pos": 174, "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->P).", "chr_id": "1", "chr_pos": "150332991", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S174", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1307444057", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1307444057" }, { "id": "rs1307444057", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1307444057#frequency_tab" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 176, "end_pos": 176, "sequence_org": "S", "sequence_mut": "C", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->C).", "chr_id": "1", "chr_pos": "150332998", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S176", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1445442631", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1445442631" }, { "id": "rs1445442631", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1445442631#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 57, "end_pos": 57, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DST->NST).", "chr_id": "1", "chr_pos": "150325774", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D57", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs201869049", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201869049" }, { "id": "rs201869049", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs201869049" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 657, "end_pos": 657, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NMA->NMT).", "chr_id": "1", "chr_pos": "150352896", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A657", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1560126950", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1560126950" }, { "id": "rs1560126950", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1560126950" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 675, "end_pos": 675, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SES->NES).", "chr_id": "1", "chr_pos": "150352951", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S675", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs781821734", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781821734" }, { "id": "rs781821734", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781821734" }, { "id": "rs781821734", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs781821734" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 79, "end_pos": 79, "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->F).", "chr_id": "1", "chr_pos": "150325841", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S79", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1553863610", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1553863610" }, { "id": "rs1553863610", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1553863610#frequency_tab" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 81, "end_pos": 81, "sequence_org": "S", "sequence_mut": "C", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->C).", "chr_id": "1", "chr_pos": "150325847", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S81", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "82.17", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000117360", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000117360" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "82.18", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000117360", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000117360" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "83.26", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000117360", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000117360" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "69.21", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000117360", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000117360" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "95.74", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000117360", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000117360" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "94.96", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000117360", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000117360" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "75.56", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000117360", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000117360" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "90.34", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000117360", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000117360" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "95.73", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000117360", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000117360" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "77.79", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000117360", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000117360" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "89.88", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000117360", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000117360" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "96.36", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000117360", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000117360" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "96.08", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000117360", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000117360" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O43395", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43395" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", 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"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, somatic", "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 aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O43395", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43395" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor 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"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", 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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 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cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O43395", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43395" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43395" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "O43395", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43395" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": 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"InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:9129", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:9129", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "601414", "url": "http://www.omim.org/entry/601414", "database": "MIM", "categories": [ "Other" ] }, { "id": "607301", "url": "http://www.omim.org/entry/607301", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O43395", "url": "https://www.nextprot.org/entry/NX_O43395", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "O43395", "url": "https://oglcnac.org/atlas/detail/O43395", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "O43395", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O43395", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "KNHEMRN", "url": "https://omabrowser.org/oma/group/KNHEMRN/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "5489218at2759", "url": "http://www.orthodb.org/?query=5489218at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR14212", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR14212", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR14212:SF0", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR14212:SF0", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "1X4Q", "url": "https://www.rcsb.org/structure/1X4Q", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3JCR", "url": "https://www.rcsb.org/structure/3JCR", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5O9Z", "url": "https://www.rcsb.org/structure/5O9Z", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6AH0", "url": "https://www.rcsb.org/structure/6AH0", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6AHD", "url": "https://www.rcsb.org/structure/6AHD", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6QW6", "url": "https://www.rcsb.org/structure/6QW6", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6QX9", "url": "https://www.rcsb.org/structure/6QX9", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7N2N", "url": "https://www.rcsb.org/structure/7N2N", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7N2R", "url": "https://www.rcsb.org/structure/7N2R", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7N2S", "url": "https://www.rcsb.org/structure/7N2S", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF01480", "url": "http://pfam.xfam.org/family/PF01480", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF06544", "url": "http://pfam.xfam.org/family/PF06544", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF08572", "url": "http://pfam.xfam.org/family/PF08572", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O43395", "url": "https://pharos.nih.gov/targets/O43395", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O43395", "url": "http://purl.obolibrary.org/obo/PR_O43395", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-72163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_004689", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004689", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "O43395", "url": "https://www.uniprot.org/uniprot/O43395", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O43395-1", "url": "https://www.uniprot.org/uniprot/O43395-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O43395-3", "url": "https://www.uniprot.org/uniprot/O43395-3", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MALSKRELDELKPWIEKTVKRVLGFSEPTVVTAALNCVGKGMDKKKAADHLKPFLDDSTLRFVDKLFEAVEEGRSSRHSKSSSDRSRKRELKEVFGDDSEISKESSGVKKRRIPRFEEVEEEPEVIPGPPSESPGMLTKLQIKQMMEAATRQIEERKKQLSFISPPTPQPKTPSSSQPERLPIGNTIQPSQAATFMNDAIEKARKAAELQARIQAQLALKPGLIGNANMVGLANLHAMGIAPPKVELKDQTKPTPLILDEQGRTVDATGKEIELTHRMPTLKANIRAVKREQFKQQLKEKPSEDMESNTFFDPRVSIAPSQRQRRTFKFHDKGKFEKIAQRLRTKAQLEKLQAEISQAARKTGIHTSTRLALIAPKKELKEGDIPEIEWWDSYIIPNGFDLTEENPKREDYFGITNLVEHPAQLNPPVDNDTPVTLGVYLTKKEQKKLRRQTRREAQKELQEKVRLGLMPPPEPKVRISNLMRVLGTEAVQDPTKVEAHVRAQMAKRQKAHEEANAARKLTAEQRKVKKIKKLKEDISQGVHISVYRVRNLSNPAKKFKIEANAGQLYLTGVVVLHKDVNVVVVEGGPKAQKKFKRLMLHRIKWDEQTSNTKGDDDEESDEEAVKKTNKCVLVWEGTAKDRSFGEMKFKQCPTENMAREHFKKHGAEHYWDLALSESVLESTD", "length": 683, "header": "sp|O43395-1|PRPF3_HUMAN Isoform 1 of U4/U6 small nuclear ribonucleoprotein Prp3 OS=Homo sapiens OX=9606 GN=PRPF3 PE=1 SV=2 CANONICAL=O43395-1" }, "isoforms": [ { "isoform_ac": "O43395-1", "url": "", "sequence": { "sequence": "MALSKRELDELKPWIEKTVKRVLGFSEPTVVTAALNCVGKGMDKKKAADHLKPFLDDSTLRFVDKLFEAVEEGRSSRHSKSSSDRSRKRELKEVFGDDSEISKESSGVKKRRIPRFEEVEEEPEVIPGPPSESPGMLTKLQIKQMMEAATRQIEERKKQLSFISPPTPQPKTPSSSQPERLPIGNTIQPSQAATFMNDAIEKARKAAELQARIQAQLALKPGLIGNANMVGLANLHAMGIAPPKVELKDQTKPTPLILDEQGRTVDATGKEIELTHRMPTLKANIRAVKREQFKQQLKEKPSEDMESNTFFDPRVSIAPSQRQRRTFKFHDKGKFEKIAQRLRTKAQLEKLQAEISQAARKTGIHTSTRLALIAPKKELKEGDIPEIEWWDSYIIPNGFDLTEENPKREDYFGITNLVEHPAQLNPPVDNDTPVTLGVYLTKKEQKKLRRQTRREAQKELQEKVRLGLMPPPEPKVRISNLMRVLGTEAVQDPTKVEAHVRAQMAKRQKAHEEANAARKLTAEQRKVKKIKKLKEDISQGVHISVYRVRNLSNPAKKFKIEANAGQLYLTGVVVLHKDVNVVVVEGGPKAQKKFKRLMLHRIKWDEQTSNTKGDDDEESDEEAVKKTNKCVLVWEGTAKDRSFGEMKFKQCPTENMAREHFKKHGAEHYWDLALSESVLESTD", "length": 683, "header": "sp|O43395-1|PRPF3_HUMAN Isoform 1 of U4/U6 small nuclear ribonucleoprotein Prp3 OS=Homo sapiens OX=9606 GN=PRPF3 PE=1 SV=2 CANONICAL=O43395-1" }, "locus": { "chromosome": "1", "start_pos": 150352976, "end_pos": 150324943, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000324862.7", "url": "https://www.ensembl.org/id/ENST00000324862.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000315379.6", "url": "https://www.ensembl.org/id/ENSP00000315379.6" } ] } }, { "isoform_ac": "O43395-3", "url": "", "sequence": { "sequence": "MLTKLQIKQMMEAATRQIEERKKQLSFISPPTPQPKTPSSSQPERLPIGNTIQPSQAATFMNDAIEKARKAAELQARIQAQLALKPGLIGNANMVGLANLHAMGIAPPKVELKDQTKPTPLILDEQGRTVDATGKEIELTHRMPTLKANIRAVKREQFKQQLKEKPSEDMESNTFFDPRVSIAPSQRQRRTFKFHDKGKFEKIAQRLRTKAQLEKLQAEISQAARKTGIHTSTRLALIAPKKELKEGDIPEIEWWDSYIIPNGFDLGKSQERRLFWNHKSC", "length": 281, "header": "sp|O43395-3|PRPF3_HUMAN Isoform 3 of U4/U6 small nuclear ribonucleoprotein Prp3 OS=Homo sapiens OX=9606 GN=PRPF3 PE=1 SV=2 CANONICAL=O43395-1" }, "locus": {} } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 172, "start_aa": "Thr", "end_pos": 172, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr172", "evidence": [ { "id": "O43395", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O43395" }, { "id": "33214551", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33214551" }, { "id": "35132862", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35132862" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "32522876", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32522876" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "30620550", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30620550" }, { "id": "32574038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32574038" }, { "id": "35289036", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35289036" }, { "id": "28510447", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28510447" }, { "id": "33465208", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33465208" }, { "id": "O43395", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O43395" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 174, "start_aa": "Ser", "end_pos": 174, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser174", "evidence": [ { "id": "O43395", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O43395" }, { "id": "33214551", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33214551" }, { "id": "35132862", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35132862" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "32522876", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32522876" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "30620550", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30620550" }, { "id": "32574038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32574038" }, { "id": "35289036", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35289036" }, { "id": "28510447", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28510447" }, { "id": "33465208", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33465208" }, { "id": "O43395", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O43395" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 175, "start_aa": "Ser", "end_pos": 175, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser175", "evidence": [ { "id": "O43395", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O43395" }, { "id": "33214551", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33214551" }, { "id": "35132862", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35132862" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "32522876", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32522876" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "30620550", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30620550" }, { "id": "32574038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32574038" }, { "id": "35289036", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35289036" }, { "id": "28510447", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28510447" }, { "id": "33465208", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33465208" }, { "id": "O43395", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O43395" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 176, "start_aa": "Ser", "end_pos": 176, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser176", "evidence": [ { "id": "O43395", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O43395" }, { "id": "33214551", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33214551" }, { "id": "35132862", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35132862" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "32522876", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32522876" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "30620550", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30620550" }, { "id": "32574038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32574038" }, { "id": "35289036", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35289036" }, { "id": "28510447", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28510447" }, { "id": "33465208", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33465208" }, { "id": "O43395", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O43395" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 186, "start_aa": "Thr", "end_pos": 186, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr186", "evidence": [ { "id": "O43395", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O43395" }, { "id": "33214551", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33214551" }, { "id": "35132862", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35132862" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "32522876", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32522876" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "30620550", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30620550" }, { "id": "32574038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32574038" }, { "id": "35289036", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35289036" }, { "id": "28510447", "database": "PubMed", "url": 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Abu-Safieh L, Patel RJ, Papaioannou MG, Inglehearn CF, Keen TJ, Willis C, Moore AT, Rosenberg T, Webster AR, Bird AC, Gal A, Hunt D, Vithana EN, Bhattacharya SS", "evidence": [ { "database": "UniProtKB", "id": "O43395", "url": "https://www.uniprot.org/uniprot/O43395" } ], "reference": [ { "type": "PubMed", "id": "11773002", "url": "https://glygen.org/publication/PubMed/11773002" } ] }, { "title": "Purification and characterization of native spliceosomes suitable for three-dimensional structural analysis.", "journal": "RNA (New York, N.Y.)", "date": "2002", "authors": "Jurica MS, Licklider LJ, Gygi SR, Grigorieff N, Moore MJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-72163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163" } ], "reference": [ { "type": "PubMed", "id": "11991638", "url": "https://glygen.org/publication/PubMed/11991638" } ] }, { "title": "Large-scale proteomic analysis of the human spliceosome.", "journal": "Genome research", "date": "2002", "authors": "Rappsilber J, Ryder U, Lamond AI, Mann 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": [ { "database": "Reactome", "id": "R-HSA-72163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163" } ], "reference": [ { "type": "PubMed", "id": "12414731", "url": "https://glygen.org/publication/PubMed/12414731" } ] }, { "title": "Protein composition of human prespliceosomes isolated by a tobramycin affinity-selection method.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2002", "authors": "Hartmuth K, Urlaub H, Vornlocher HP, Will CL, Gentzel M, Wilm M, Luhrmann R", "evidence": [ { "database": "Reactome", "id": "R-HSA-72163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163" } ], "reference": [ { "type": "PubMed", "id": "12477934", "url": "https://glygen.org/publication/PubMed/12477934" } ] }, { "title": "Mutations in the pre-mRNA splicing-factor genes PRPF3, PRPF8, and PRPF31 in Spanish families with autosomal dominant retinitis pigmentosa.", "journal": "Investigative ophthalmology & visual science", "date": "2003", "authors": "Martinez-Gimeno M, Gamundi MJ, Hernan I, Maseras M, Milla E, Ayuso C, Garcia-Sandoval B, Beneyto M, Vilela C, Baiget M, Antinolo G, Carballo M", "evidence": [ { "database": "UniProtKB", "id": "O43395", "url": "https://www.uniprot.org/uniprot/O43395" } ], "reference": [ { "type": "PubMed", "id": "12714658", "url": "https://glygen.org/publication/PubMed/12714658" } ] }, { "title": "A simple whole cell lysate system for in vitro splicing reveals a stepwise assembly of the exon-exon junction complex.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Kataoka N, Dreyfuss G", "evidence": [ { "database": "Reactome", "id": "R-HSA-72163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163" } ], "reference": [ { "type": "PubMed", "id": "14625303", "url": "https://glygen.org/publication/PubMed/14625303" } ] }, { "title": "Prp5 bridges U1 and U2 snRNPs and enables stable U2 snRNP association with intron RNA.", "journal": "The EMBO journal", "date": "2004", "authors": "Xu YZ, Newnham CM, Kameoka S, Huang T, Konarska MM, Query CC", "evidence": [ { "database": "Reactome", "id": "R-HSA-72163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163" } ], "reference": [ { "type": "PubMed", "id": "14713954", "url": "https://glygen.org/publication/PubMed/14713954" } ] }, { "title": "Human U4/U6 snRNP recycling factor p110: mutational analysis reveals the function of the tetratricopeptide repeat domain in recycling.", "journal": "Mol. Cell. Biol.", "date": "2004", "authors": "Medenbach Jan, Schreiner Silke, Liu Sunbin, L\u00fchrmann Reinhard, Bindereif Albrecht", "evidence": [ { "database": "UniProtKB", "id": "O43395", "url": "https://www.uniprot.org/uniprot/O43395" } ], "reference": [ { "type": "PubMed", "id": "15314151", "url": "https://glygen.org/publication/PubMed/15314151" } ] }, { "title": "Biochemical analysis of the EJC reveals two new factors and a stable tetrameric protein core.", "journal": "RNA (New York, N.Y.)", "date": "2005", "authors": "Tange TO, Shibuya T, Jurica MS, Moore MJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-72163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163" } ], "reference": [ { "type": "PubMed", "id": "16314458", "url": "https://glygen.org/publication/PubMed/16314458" } ] }, { "title": "Phosphoproteome analysis of the human mitotic spindle.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2006", "authors": 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N.Y.)", "date": "2022", "authors": "Tholen J, Razew M, Weis F, Galej WP", "evidence": [ { "database": "Reactome", "id": "R-HSA-72163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163" } ], "reference": [ { "type": "PubMed", "id": "34822310", "url": "https://glygen.org/publication/PubMed/34822310" } ] }, { "title": "Simultaneously Identifying and Distinguishing Glycoproteins with O-GlcNAc and O-GalNAc (the Tn Antigen) in Human Cancer Cells.", "journal": "Analytical chemistry", "date": "2022", "authors": "Xu S, Zheng J, Xiao H, Wu R", "evidence": [ { "database": "O-GlcNAc Database", "id": "O43395", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O43395" } ], "reference": [ { "type": "PubMed", "id": "35132862", "url": "https://glygen.org/publication/PubMed/35132862" } ] }, { "title": "An Optimized Isotopic Photocleavable Tagging Strategy for Site-Specific and Quantitative Profiling of Protein O-GlcNAcylation in Colorectal Cancer Metastasis.", "journal": "ACS chemical biology", "date": "2022", "authors": "Liu J, Hao Y, Wang C, Jin Y, Yang Y, Gu J, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "O43395", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O43395" } ], "reference": [ { "type": "PubMed", "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053" } ] }, { "title": "Endo-M Mediated Chemoenzymatic Approach Enables Reversible Glycopeptide Labeling for O-GlcNAcylation Analysis.", "journal": "Angewandte Chemie (International ed. in English)", "date": "2022", "authors": "Chen Y, Tang F, Qin H, Yue X, Nie Y, Huang W, Ye M", "evidence": [ { "database": "O-GlcNAc Database", "id": "O43395", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O43395" } ], "reference": [ { "type": "PubMed", "id": "35289036", "url": "https://glygen.org/publication/PubMed/35289036" } ] }, { "title": "Retinitis pigmentosa-linked mutation in DHX38 modulates its splicing activity.", "journal": "PloS one", "date": "2022", "authors": "Obuca M, Cvackova Z, Kubovciak J, Kolar M, Stanek D", "evidence": [ { "database": "Reactome", "id": "R-HSA-72163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163" } ], "reference": [ { "type": "PubMed", "id": "35385551", "url": "https://glygen.org/publication/PubMed/35385551" } ] }, { "title": "Extracellular arginine availability modulates eIF2\u03b1 O-GlcNAcylation and heme oxygenase 1 translation for cellular homeostasis.", "journal": "Journal of biomedical science", "date": "2023-05-22", "authors": "Hung Yu-Wen, Ouyang Ching, Ping Xiaoli, Qi Yue, Wang Yi-Chang, Kung Hsing-Jien, Ann David K", "evidence": [ { "database": "O-GlcNAc Database", "id": "O43395", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O43395" } ], "reference": [ { "type": "PubMed", "id": "37217939", "url": "https://glygen.org/publication/PubMed/37217939" } ] }, { "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 upstream of the branch site is required for assembly of spliceosomal complex A.", "journal": "Genes & development", "date": "1996", "authors": "Gozani O, Feld R, Reed R", "evidence": [ { "database": "Reactome", "id": "R-HSA-72163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163" } ], "reference": [ { "type": "PubMed", "id": "8566756", "url": "https://glygen.org/publication/PubMed/8566756" } ] }, { "title": "A human RNA helicase-like protein, HRH1, facilitates nuclear export of spliced mRNA by releasing the RNA from the spliceosome.", "journal": "Genes & development", "date": "1996", "authors": "Ohno M, Shimura Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-72163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163" } ], "reference": [ { "type": "PubMed", "id": "8608946", "url": "https://glygen.org/publication/PubMed/8608946" } ] }, { "title": "Association of U2 snRNP with the spliceosomal complex E.", "journal": "Nucleic acids research", "date": "1997", "authors": "Hong W, Bennett M, Xiao Y, Feld Kramer R, Wang C, Reed R", "evidence": [ { "database": "Reactome", "id": "R-HSA-72163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163" } ], "reference": [ { "type": "PubMed", "id": "9016565", "url": "https://glygen.org/publication/PubMed/9016565" } ] }, { "title": "U2AF65 recruits a novel human DEAD box protein required for the U2 snRNP-branchpoint interaction.", "journal": "Genes & development", "date": "1997", "authors": "Fleckner J, Zhang M, Valcarcel J, Green MR", "evidence": [ { "database": "Reactome", "id": "R-HSA-72163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163" } ], "reference": [ { "type": "PubMed", "id": "9242493", "url": "https://glygen.org/publication/PubMed/9242493" } ] }, { "title": "Identification and characterization of human genes encoding Hprp3p and Hprp4p, interacting components of the spliceosome.", "journal": "Hum. Mol. Genet.", "date": "1997", "authors": "Wang A, Forman-Kay J, Luo Y, Luo M, Chow YH, Plumb J, Friesen JD, Tsui LC, Heng HH, Woolford JL Jr, Hu J", "evidence": [ { "database": "UniProtKB", "id": "O43395", "url": "https://www.uniprot.org/uniprot/O43395" } ], "reference": [ { "type": "PubMed", "id": "9328476", "url": "https://glygen.org/publication/PubMed/9328476" } ] }, { "title": "A new cyclophilin and the human homologues of yeast Prp3 and Prp4 form a complex associated with U4/U6 snRNPs.", "journal": "RNA", "date": "1997", "authors": "Horowitz DS, Kobayashi R, Krainer AR", "evidence": [ { "database": "UniProtKB", "id": "O43395", "url": "https://www.uniprot.org/uniprot/O43395" } ], "reference": [ { "type": "PubMed", "id": "9404889", "url": "https://glygen.org/publication/PubMed/9404889" } ] }, { "title": "A cooperative interaction between U2AF65 and mBBP/SF1 facilitates branchpoint region recognition.", "journal": "Genes & development", "date": "1998", "authors": "Berglund JA, Abovich N, Rosbash M", "evidence": [ { "database": "Reactome", "id": "R-HSA-72163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163" } ], "reference": [ { "type": "PubMed", "id": "9512519", "url": "https://glygen.org/publication/PubMed/9512519" } ] }, { "title": "Human homologs of yeast prp16 and prp17 reveal conservation of the mechanism for catalytic step II of pre-mRNA splicing.", "journal": "The EMBO journal", "date": "1998", "authors": "Zhou Z, Reed R", "evidence": [ { "database": "Reactome", "id": "R-HSA-72163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163" } ], "reference": [ { "type": "PubMed", "id": "9524131", "url": "https://glygen.org/publication/PubMed/9524131" } ] }, { "title": "The human U5-200kD DEXH-box protein unwinds U4/U6 RNA duplices in vitro.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1998", "authors": "Laggerbauer B, Achsel T, Luhrmann R", "evidence": [ { "database": "Reactome", "id": "R-HSA-72163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163" } ], "reference": [ { "type": "PubMed", "id": "9539711", "url": "https://glygen.org/publication/PubMed/9539711" } ] }, { "title": "A potential role for U2AF-SAP 155 interactions in recruiting U2 snRNP to the branch site.", "journal": "Molecular and cellular biology", "date": "1998", "authors": "Gozani O, Potashkin J, Reed R", "evidence": [ { "database": "Reactome", "id": "R-HSA-72163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163" } ], "reference": [ { "type": "PubMed", "id": "9671485", "url": "https://glygen.org/publication/PubMed/9671485" } ] }, { "title": "The mammalian homologue of Prp16p is overexpressed in a cell line tolerant to Leflunomide, a new immunoregulatory drug effective against rheumatoid arthritis.", "journal": "RNA (New York, N.Y.)", "date": "1998", "authors": "Ortlepp D, Laggerbauer B, Mullner S, Achsel T, Kirschbaum B, Luhrmann R", "evidence": [ { "database": "Reactome", "id": "R-HSA-72163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163" } ], "reference": [ { "type": "PubMed", "id": "9701291", "url": "https://glygen.org/publication/PubMed/9701291" } ] }, { "title": "Mass spectrometry and EST-database searching allows characterization of the multi-protein spliceosome complex.", "journal": "Nature genetics", "date": "1998", "authors": "Neubauer G, King A, Rappsilber J, Calvio C, Watson M, Ajuh P, Sleeman J, Lamond A, Mann M", "evidence": [ { "database": "Reactome", "id": "R-HSA-72163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163" } ], "reference": [ { "type": "PubMed", "id": "9731529", "url": "https://glygen.org/publication/PubMed/9731529" } ] } ], "pathway": [ { "id": "hsa:9129", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:9129", "resource": "KEGG Pathway" }, { "id": "R-HSA-72163", "name": "mRNA Splicing - Major Pathway", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163", "resource": "Reactome", "description": "mRNA Splicing - Major Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "A0A0G2JTI7-1", "protein_name": "U4/U6 small nuclear ribonucleoprotein Prp3", "gene_name": "Prpf3", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MALSKRELDELKPWIEKTVKRVLGFSEPTVVTAALNCVGKGMDKKKAADHLKPFLDDSTLRFVDKLFEAVEEGRSSRHSKSSSDRSRKRELKEVFGDDSEISKESSGVKKRRIPRFEEVEEEPEVIPGPPSESPGMLTKLQIKQMMEAATRQIEERKKQLSFISPPAPQPKTPSSSQPERLPIGNTIQPSQAATFMNDAIEKARKAAELQARIQAQLALKPGLIGNANMVGLANLHAMGIAPPKVELKDQTKPTPLILDEQGRTVDATGKEVELTHRMPTLKANIRAVKREQFKQQLKEKPSEDMESNTFFDPRVSIAPSQRQRRTFKFHDKGKFEKIAQRLRTKAQLEKLQAEISQAARKTGIHTSTRLALIAPKKELKEGDIPEIEWWDSYIIPNGFDLTEENPKREDYFGITNLVEHPAQLNPPVDNDTPVTLGVYLTKKEQKKLRRQTRREAQKELQEKVRLGLTPPPEPKVRISNLMRVLGTEAVQDPTKVEAHVRAQMAKRQKAHEEANAARKLTAEQRKVKKVKKLKEDISQGVHISVYRVRNLSNPAKKFKIEANAGQLYLTGVVVLHKDVNVVVVEGGPKAQKKFKRLMLHRIKWDEQTSNTKGDDDEESDEEAVKKTNKCVLVWEVRHSQRPELWRDEVQTVPYREHGA", "length": 659 }, "evidence": [ { "id": "45918847", "url": "http://www.informatics.jax.org/homology/45918847", "database": "MGI" }, { "id": "O43395", "url": "https://omabrowser.org/oma/group/O43395/", "database": "OMA" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q922U1-1", "protein_name": "U4/U6 small nuclear ribonucleoprotein Prp3", "gene_name": "Prpf3", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MALSKRELDELKPWIEKTVKRVLGFSEPTVVTAALNCVGKGMDKKKAADHLKPFLDDSTLRFVDKLFEAVEEGRSSRHSKSSSDRSRKRELKEVFGDDSEISKESSGVKKRRIPRFEEVEEEPEVIPGPPSESPGMLTKLQIKQMMEAATRQIEERKKQLSFISPPAPQPKTPSSSQPERLPIGNTIQPSQAATFMNDAIEKARKAAELQARIQAQLALKPGLIGNANMVGLANLHAMGIAPPKVELKDQTKPTPLILDEQGRTVDATGKEVELTHRMPTLKANIRAVKREQFKQQLKEKPSEDMESNTFFDPRVSIAPSQRQRRTFKFHDKGKFEKIAQRLRTKAQLEKLQAEISQAARKTGIHTSTRLALIAPKKELKEGDIPEIEWWDSYIIPNGFDLTEENPKREDYFGITNLVEHPAQLNPPVDNDTPVTLGVYLTKKEQKKLRRQTRREAQKELQEKVRLGLTPPPEPKVRISNLMRVLGTEAVQDPTKVEAHVRAQMAKRQKAHEEANAARKLTAEQRKVKKIKKLKEDISQGVHISVYRVRNLSNPAKKFKIEANAGQLYLTGVVVLHKDVNVVVVEGGPKAQKKFKRLMLHRIKWDEQTSNTKGDDDEESDEEAVKKTNKCVLVWEGTAKDRSFGEMKFKQCPTENMAREHFKKHGAEHYWDLALSESVLESTD", "length": 683 }, "evidence": [ { "id": "45918847", "url": "http://www.informatics.jax.org/homology/45918847", "database": "MGI" }, { "id": "O43395", "url": "https://omabrowser.org/oma/group/O43395/", "database": "OMA" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "Q9VW52-1", "protein_name": "Precursor RNA processing 3, isoform A", "gene_name": "Prp3", "tax_id": 7227, "organism": "Drosophila melanogaster", "sequence": { "sequence": "MSSIITRKDGDDQKLSKKRAAASDSKSGGGSALEAPKKSRFDVPEKNGGGGEKKEEVAVPASLSSTQIKLMMAHAQREIEERKRALSNLRDKDPLLASVPSIGMPVALATQALAKKPTPEDSEKARKIAELQAQIRAKLTGNLASLIQPTAVAAAAAAAAQAQERPKPLILDDEGRTVDKSGRTINIPTVTPTLKANIRAKKREVFQRQTGLGERSESGTSAQEEAIKYFDDRIALKPTVRTKRTLRFHEPGKFQQLAERMRMKSQLERLQNEISQIARKTGISSATKLALIAPKQDMPDDVPAMEWWDSVILTQDLETVDDASGKISIRQTAITNLIEHPTQMKPPNEPLKPVYLPVFLTKKERKKLRRQNRREAWKEEQEKIRLGLVAPPEPKLRISNLMRVLGSEAVQDPTKMEQHVRDQMAKRQKAHEDANNARKLTSEQKSEKKQRKLREDTSCGVHVSVYRIRDLQDNQSKKFKVETNAKQLQMTGSVVLFRDCCVVVVEGGPKQQKKYRRLMLTRIKWEEDNAKGNDGQDVPNSCVLVWEGTSQRRHFGEIKFKIFPMEKMAREFFQKHQVEHYWDLAYSGAVLEASTDQQ", "length": 598 }, "evidence": [ { "id": "O43395", "url": "https://omabrowser.org/oma/group/O43395/", "database": "OMA" } ], "common_name": "Fruit fly" } ], "go_annotation": { "categories": [ { "name": "Biological Process", "total": 5, "go_terms": [ { "name": "RNA splicing, via transesterification reactions", "id": "GO:0000375", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000375", "evidence": [ { "database": "UniProtKB", "id": "O43395", "url": "https://www.uniprot.org/uniprot/O43395" } ], "pmid": "" }, { "name": "mRNA processing", "id": "GO:0006397", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006397", "evidence": [ { "database": "UniProtKB", "id": "O43395", "url": "https://www.uniprot.org/uniprot/O43395" } ], "pmid": "" }, { "name": "spliceosomal tri-snRNP complex assembly", "id": "GO:0000244", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000244", "evidence": [ { "database": "UniProtKB", "id": "O43395", "url": "https://www.uniprot.org/uniprot/O43395" } ], "pmid": "" }, { "name": "RNA splicing", "id": "GO:0008380", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008380", "evidence": [ { "database": "UniProtKB", "id": "O43395", "url": "https://www.uniprot.org/uniprot/O43395" } ], "pmid": "" }, { "name": "mRNA splicing, via spliceosome", "id": "GO:0000398", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000398", "evidence": [ { "database": "UniProtKB", "id": "O43395", "url": "https://www.uniprot.org/uniprot/O43395" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 2, "go_terms": [ { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "O43395", "url": "https://www.uniprot.org/uniprot/O43395" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "O43395", "url": "https://www.uniprot.org/uniprot/O43395" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 8, "go_terms": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "O43395", "url": "https://www.uniprot.org/uniprot/O43395" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "O43395", "url": "https://www.uniprot.org/uniprot/O43395" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "O43395", "url": "https://www.uniprot.org/uniprot/O43395" } ], "pmid": "" }, { "name": "nuclear speck", "id": "GO:0016607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016607", "evidence": [ { "database": "UniProtKB", "id": "O43395", "url": "https://www.uniprot.org/uniprot/O43395" } ], "pmid": "" }, { "name": "spliceosomal complex", "id": "GO:0005681", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005681", "evidence": [ { "database": "UniProtKB", "id": "O43395", "url": "https://www.uniprot.org/uniprot/O43395" } ], "pmid": "" }, { "name": "Cajal body", "id": "GO:0015030", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015030", "evidence": [ { "database": "UniProtKB", "id": "O43395", "url": "https://www.uniprot.org/uniprot/O43395" } ], "pmid": "" }, { "name": "U4/U6 x U5 tri-snRNP complex", "id": "GO:0046540", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046540", "evidence": [ { "database": "UniProtKB", "id": "O43395", "url": "https://www.uniprot.org/uniprot/O43395" } ], "pmid": "" }, { "name": "U2-type precatalytic spliceosome", "id": "GO:0071005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071005", "evidence": [ { "database": "UniProtKB", "id": "O43395", "url": "https://www.uniprot.org/uniprot/O43395" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 430, "end_pos": 432, "annotation": "n_glycosylation_sequon" }, { "start_pos": 550, "end_pos": 552, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [ { "annotation": "Ubiquitinated. Undergoes 'Lys-63'-linked polyubiquitination by PRPF19 and deubiquitination by USP4. 'Lys-63'-linked ubiquitination increases the affinity for PRPF8 and may regulate the assembly of the U4/U6-U5 tri-snRNP complex.", "evidence": [ { "database": "UniProtKB", "id": "O43395", "url": "https://www.uniprot.org/uniprot/O43395" }, { "database": "PubMed", "id": "20595234", "url": "https://glygen.org/publication/PubMed/20595234" } ] } ], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "sequence_features": { "n_linked_sites": [], "o_linked_sites": [ 79, 81, 82, 172, 174, 175, 176, 186 ], "snv_sites": [ 57, 79, 81, 174, 176, 657, 675 ], "glycation_sites": [], "phosphorylation_sites": [ 105, 106, 131, 133, 161, 164, 167, 172, 175, 176, 264, 326, 356, 411, 415, 494, 611, 619 ], "sequon_annotation_sites": [ { "start_pos": 430, "end_pos": 432 }, { "start_pos": 550, "end_pos": 552 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 8 }, { "field": "total_sites", "count": 8 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 8 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 8 }, { "field": "total_sites", "count": 8 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 8 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 19 }, { "field": "total_sites", "count": 18 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 7 }, { "field": "total_sites", "count": 7 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 7 }, { "field": "total_sites", "count": 7 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 119 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }