{ "uniprot_canonical_ac": "O94906-1", "uniprot_ac": "O94906", "uniprot_id": "PRP6_HUMAN", "mass": { "chemical_mass": 106925.0, "monoisotopic_mass": 106925.0 }, "refseq": { "ac": "NP_036601", "name": "pre-mRNA-processing factor 6", "summary": "The protein encoded by this gene appears to be involved in pre-mRNA splicing, possibly acting as a bridging factor between U5 and U4/U6 snRNPs in formation of the spliceosome. The encoded protein also can bind androgen receptor, providing a link between transcriptional activation and splicing. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036601" }, "gene_names": [ { "name": "PRPF6", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O94906", "id": "O94906" }, { "name": "ANT-1; ANT1; C20orf14; hPrp6; Prp6; RP60; SNRNP102; TOM; U5-102K", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036601", "id": "NP_036601" }, { "name": "C20orf14", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O94906", "id": "O94906" }, { "name": "PRPF6", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036601", "id": "NP_036601" } ], "protein_names": [ { "name": "Pre-mRNA-processing factor 6", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O94906" }, { "name": "ANT-1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O94906" }, { "name": "Androgen receptor N-terminal domain-transactivating protein 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O94906" }, { "name": "PRP6 homolog", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O94906" }, { "name": "U5 snRNP-associated 102 kDa protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O94906" }, { "name": "U5-102 kDa protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O94906" }, { "name": "androgen receptor N-terminal domain transactivating protein-1; p102 U5 small nuclear ribonucleoprotein particle-binding protein; putative mitochondrial outer membrane protein import receptor; U5 snRNP-associated 102 kDa protein; PRP6 homolog; U5-102 kDa protein; PRP6 pre-mRNA processing factor 6 homolog", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036601", "id": "NP_036601" }, { "name": "pre-mRNA-processing factor 6", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036601", "id": "NP_036601" } ], "function": [ { "annotation": "Involved in pre-mRNA splicing as component of the U4/U6-U5 tri-snRNP complex, one of the building blocks of the spliceosome (PubMed:28781166, PubMed:21549338). Enhances dihydrotestosterone-induced transactivation activity of AR, as well as dexamethasone-induced transactivation activity of NR3C1, but does not affect estrogen-induced transactivation.", "evidence": [ { "database": "UniProtKB", "id": "O94906", "url": "https://www.uniprot.org/uniprot/O94906#function" }, { "database": "PubMed", "id": "21549338", "url": "https://glygen.org/publication/PubMed/21549338" }, { "database": "PubMed", "id": "28781166", "url": "https://glygen.org/publication/PubMed/28781166" }, { "database": "PubMed", "id": "12039962", "url": "https://glygen.org/publication/PubMed/12039962" } ] }, { "annotation": "PRPF6 promotes androgen receptor/androgen receptor-variant 7 actions in castration-resistant prostate cancer cells. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_036601", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036601" }, { "database": "PubMed", "id": "33390843", "url": "https://glygen.org/publication/PubMed/33390843" } ] }, { "annotation": "PRPF6 promotes metastasis and paclitaxel resistance of ovarian cancer via SNHG16/CEBPB/GATA3 axis. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_036601", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036601" }, { "database": "PubMed", "id": "37303939", "url": "https://glygen.org/publication/PubMed/37303939" } ] }, { "annotation": "Pathogenic Variants in USH1G/SANS Alter Protein Interaction with Pre-RNA Processing Factors PRPF6 and PRPF31 of the Spliceosome. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_036601", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036601" }, { "database": "PubMed", "id": "38139438", "url": "https://glygen.org/publication/PubMed/38139438" } ] }, { "annotation": "The protein encoded by this gene appears to be involved in pre-mRNA splicing, possibly acting as a bridging factor between U5 and U4/U6 snRNPs in formation of the spliceosome. The encoded protein also can bind androgen receptor, providing a link between transcriptional activation and splicing. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_036601", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036601" } ] } ], "disease": [ { "disease_id": "DOID:0110411", "recommended_name": { "id": "DOID:0110411", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110411", "name": "retinitis pigmentosa 60", "description": "A retinitis pigmentosa that has_material_basis_in mutation in the PRPF6 gene on chromosome 20q13.33." }, "synonyms": [ { "id": "DOID:0110411", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110411", "name": "RP60", "description": "" }, { "id": "MONDO:0013516", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013516", "name": "retinitis pigmentosa 60", "description": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF6 gene." }, { "id": "MONDO:0013516", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013516", "name": "PRPF6 retinitis pigmentosa", "description": "" }, { "id": "MONDO:0013516", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013516", "name": "RP60", "description": "" }, { "id": "MONDO:0013516", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013516", "name": "retinitis pigmentosa 60", "description": "" }, { "id": "MONDO:0013516", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013516", "name": "retinitis pigmentosa caused by mutation in PRPF6", "description": "" }, { "id": "MONDO:0013516", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013516", "name": "retinitis pigmentosa type 60", "description": "" }, { "id": "MIM:613983", "resource": "MIM", "url": "https://www.omim.org/entry/613983", "name": "Retinitis pigmentosa 60", "description": "Retinitis pigmentosa 60" } ], "evidence": [ { "id": "613983", "database": "MIM", "url": "https://www.omim.org/entry/613983" } ] } ], "snv": [ { "evidence": [ { "id": "rs765889662", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765889662" }, { "id": "rs765889662", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765889662" }, { "id": "rs765889662", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs765889662" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 573, "end_pos": 573, "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (KKS->NKS).", "chr_id": "20", "chr_pos": "64022828", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K573", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs771734100", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771734100" }, { "id": "rs771734100", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771734100" }, { "id": "rs771734100", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs771734100#frequency_tab" }, { "id": "rs771734100", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs771734100" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 65, "end_pos": 65, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NQA->NQT).", "chr_id": "20", "chr_pos": "63983168", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A65", "disease": [ { "disease_id": "DOID:10584", "recommended_name": { "id": "DOID:10584", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10584", "name": "retinitis pigmentosa", "description": "A retinal degeneration characterized by the gradual deterioration of the photoreceptors or the retinal pigment epithelium of the retina leading to progressive sight loss." }, "synonyms": [ { "id": "DOID:10584", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10584", "name": "pericentral pigmentary retinopathy", "description": "" }, { "id": "MONDO:0019200", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019200", "name": "retinitis pigmentosa", "description": "Retinitis pigmentosa (RP) is an inherited retinal dystrophy leading to progressive loss of the photoreceptors and retinal pigment epithelium and resulting in blindness usually after several decades." }, { "id": "MONDO:0019200", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019200", "name": "retinitis pigmentosa", "description": "" }, { "id": "MONDO:0019200", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019200", "name": "pericentral pigmentary retinopathy", "description": "" }, { "id": "MONDO:0019200", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019200", "name": "Rod-cone dystrophy", "description": "" }, { "id": "MIM:268000", "resource": "MIM", "url": "https://www.omim.org/entry/268000", "name": "Retinitis pigmentosa", "description": "Retinitis pigmentosa" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs1464861804", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1464861804" }, { "id": "rs1464861804", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1464861804" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 671, "end_pos": 671, "sequence_org": "S", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->I).", "chr_id": "20", "chr_pos": "64026042", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S671", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1601532190", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1601532190" }, { "id": "rs1601532190", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1601532190" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 671, "end_pos": 671, "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->R).", "chr_id": "20", "chr_pos": "64026043", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S671", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "86.65", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000101161", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000101161" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "87.07", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000101161", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000101161" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "89.01", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000101161", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000101161" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "90.93", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000101161", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000101161" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "95.19", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000101161", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000101161" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "91.05", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000101161", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000101161" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "86.02", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000101161", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000101161" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "90.12", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000101161", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000101161" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "91.79", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000101161", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000101161" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "85.12", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000101161", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000101161" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "86.23", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000101161", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000101161" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "92.57", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000101161", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000101161" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "93.68", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000101161", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000101161" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O94906", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O94906" } ], "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", "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, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, 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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}, { "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": "O94906", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O94906" } ], "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", 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"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", 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"description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "No", "trend": "down", "name": "Urinary bladder 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"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 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O94906" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine 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"id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine 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"MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "O94906", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O94906" } ], "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed 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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": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O94906", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O94906" } ], "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": "O94906", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O94906" } ], "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": "O94906", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O94906" } ], "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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"name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O94906", "url": "https://www.uniprot.org/uniprot/O94906" } ], "common_name": "Human" } ], "gene": [ { "name": "PRPF6", "url": "https://www.uniprot.org/uniprot/O94906", "locus": { "chromosome": "20", "start_pos": 64033100, "end_pos": 63981132, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000101161", "url": "https://www.ensembl.org/id/ENSG00000101161" } ] } } ], "crossref": [ { "id": "ENSG00000101161", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000101161", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "PRPF6", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRPF6", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "24148", "url": "https://www.ncbi.nlm.nih.gov/gene/24148", "database": "GeneID", 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"database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:24148", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:24148", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "613979", "url": "http://www.omim.org/entry/613979", "database": "MIM", "categories": [ "Other" ] }, { "id": "613983", "url": "http://www.omim.org/entry/613983", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O94906", "url": "https://www.nextprot.org/entry/NX_O94906", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "O94906", "url": "https://oglcnac.org/atlas/detail/O94906", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "O94906", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O94906", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "DGWAWYY", "url": "https://omabrowser.org/oma/group/DGWAWYY/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "655233at2759", "url": "http://www.orthodb.org/?query=655233at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR11246", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11246", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR11246:SF1", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11246:SF1", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "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": "PF06424", "url": "http://pfam.xfam.org/family/PF06424", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF13432", "url": "http://pfam.xfam.org/family/PF13432", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF14559", "url": "http://pfam.xfam.org/family/PF14559", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O94906", "url": "https://pharos.nih.gov/targets/O94906", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O94906", "url": "http://purl.obolibrary.org/obo/PR_O94906", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-72163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-72165", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72165", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_036601", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036601", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "O94906", "url": "https://www.uniprot.org/uniprot/O94906", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O94906-1", "url": "https://www.uniprot.org/uniprot/O94906-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O94906-2", "url": "https://www.uniprot.org/uniprot/O94906-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MNKKKKPFLGMPAPLGYVPGLGRGATGFTTRSDIGPARDANDPVDDRHAPPGKRTVGDQMKKNQAADDDDEDLNDTNYDEFNGYAGSLFSSGPYEKDDEEADAIYAALDKRMDERRKERREQREKEEIEKYRMERPKIQQQFSDLKRKLAEVTEEEWLSIPEVGDARNKRQRNPRYEKLTPVPDSFFAKHLQTGENHTSVDPRQTQFGGLNTPYPGGLNTPYPGGMTPGLMTPGTGELDMRKIGQARNTLMDMRLSQVSDSVSGQTVVDPKGYLTDLNSMIPTHGGDINDIKKARLLLKSVRETNPHHPPAWIASARLEEVTGKLQVARNLIMKGTEMCPKSEDVWLEAARLQPGDTAKAVVAQAVRHLPQSVRIYIRAAELETDIRAKKRVLRKALEHVPNSVRLWKAAVELEEPEDARIMLSRAVECCPTSVELWLALARLETYENARKVLNKARENIPTDRHIWITAAKLEEANGNTQMVEKIIDRAITSLRANGVEINREQWIQDAEECDRAGSVATCQAVMRAVIGIGIEEEDRKHTWMEDADSCVAHNALECARAIYAYALQVFPSKKSVWLRAAYFEKNHGTRESLEALLQRAVAHCPKAEVLWLMGAKSKWLAGDVPAARSILALAFQANPNSEEIWLAAVKLESENDEYERARRLLAKARSSAPTARVFMKSVKLEWVQDNIRAAQDLCEEALRHYEDFPKLWMMKGQIEEQKEMMEKAREAYNQGLKKCPHSTPLWLLLSRLEEKIGQLTRARAILEKSRLKNPKNPGLWLESVRLEYRAGLKNIANTLMAKALQECPNSGILWSEAIFLEARPQRRTKSVDALKKCEHDPHVLLAVAKLFWSQRKITKAREWFHRTVKIDSDLGDAWAFFYKFELQHGTEEQQEEVRKRCESAEPRHGELWCAVSKDIANWQKKIGDILRLVAGRIKNTF", "length": 941, "header": "sp|O94906-1|PRP6_HUMAN Isoform 1 of Pre-mRNA-processing factor 6 OS=Homo sapiens OX=9606 GN=PRPF6 PE=1 SV=1 CANONICAL=O94906-1" }, "isoforms": [ { "isoform_ac": "O94906-1", "url": "", "sequence": { "sequence": "MNKKKKPFLGMPAPLGYVPGLGRGATGFTTRSDIGPARDANDPVDDRHAPPGKRTVGDQMKKNQAADDDDEDLNDTNYDEFNGYAGSLFSSGPYEKDDEEADAIYAALDKRMDERRKERREQREKEEIEKYRMERPKIQQQFSDLKRKLAEVTEEEWLSIPEVGDARNKRQRNPRYEKLTPVPDSFFAKHLQTGENHTSVDPRQTQFGGLNTPYPGGLNTPYPGGMTPGLMTPGTGELDMRKIGQARNTLMDMRLSQVSDSVSGQTVVDPKGYLTDLNSMIPTHGGDINDIKKARLLLKSVRETNPHHPPAWIASARLEEVTGKLQVARNLIMKGTEMCPKSEDVWLEAARLQPGDTAKAVVAQAVRHLPQSVRIYIRAAELETDIRAKKRVLRKALEHVPNSVRLWKAAVELEEPEDARIMLSRAVECCPTSVELWLALARLETYENARKVLNKARENIPTDRHIWITAAKLEEANGNTQMVEKIIDRAITSLRANGVEINREQWIQDAEECDRAGSVATCQAVMRAVIGIGIEEEDRKHTWMEDADSCVAHNALECARAIYAYALQVFPSKKSVWLRAAYFEKNHGTRESLEALLQRAVAHCPKAEVLWLMGAKSKWLAGDVPAARSILALAFQANPNSEEIWLAAVKLESENDEYERARRLLAKARSSAPTARVFMKSVKLEWVQDNIRAAQDLCEEALRHYEDFPKLWMMKGQIEEQKEMMEKAREAYNQGLKKCPHSTPLWLLLSRLEEKIGQLTRARAILEKSRLKNPKNPGLWLESVRLEYRAGLKNIANTLMAKALQECPNSGILWSEAIFLEARPQRRTKSVDALKKCEHDPHVLLAVAKLFWSQRKITKAREWFHRTVKIDSDLGDAWAFFYKFELQHGTEEQQEEVRKRCESAEPRHGELWCAVSKDIANWQKKIGDILRLVAGRIKNTF", "length": 941, "header": "sp|O94906-1|PRP6_HUMAN Isoform 1 of Pre-mRNA-processing factor 6 OS=Homo sapiens OX=9606 GN=PRPF6 PE=1 SV=1 CANONICAL=O94906-1" }, "locus": { "chromosome": "20", "start_pos": 64032990, "end_pos": 63981246, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000266079.5", "url": "https://www.ensembl.org/id/ENST00000266079.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000266079.4", "url": "https://www.ensembl.org/id/ENSP00000266079.4" } ] } }, { "isoform_ac": "O94906-2", "url": "", "sequence": { "sequence": "MNKKKKPFLGMPAPLGYVPGLGRGATGFTTRSDIGPARDANDPVDDRHAPPGKRTVGDQMKKNQAADDDDEDLNDTNYDEFNGYAGSLFSSGPYEKDDEEADAIYAALDKRMDERRKERREQREKEEIEKYRMERPKIQQQFSDLKRKLAEVTEEEWLSIPEVGDARNKRQRNPRYEKLTPVPDSFFAKHLQTGENHTSVDPRQTQFGGLNTPYPGGLNTPYPGGMTPGLMTPGTGELDMRKIGQARNTLMDMRLSQVSDSVSGQTVVDPKGYLTDLNSMIPTHGGDINDIKKARLLLKSVRETNPHHPPAWIASARLEEVTGKLQVARNLIMKGTEMCPKSEDVWLEAARLQPGDTAKAVVAQAVRHLPQSVRIYIRAAELETDIRAKKRVLRKALEHVPNSVRLWKAAVELEEPEDARIMLSRAVECCPTSVELWLALARLETYENARKVLNKARENIPTDRHIWITAAKLEEANGNTQMVEKIIDRAITSLRANGVEINREQWIQDAEECDRAGSVATCQAVMRAVIGIGIEEEDRKHTWMEDADSCVAHNALECARAIYAYALQVFPSKKSVWLRAAYFEKNHGTRESLEALLQRAVAHCPKAEVLWLMGAKSKWLAGDVPAARSILALAFQVFMKSVKLEWVQDNIRAAQDLCEEALRHYEDFPKLWMMKGQIEEQKEMMEKAREAYNQGLKKCPHSTPLWLLLSRLEEKIGQLTRARAILEKSRLKNPKNPGLWLESVRLEYRAGLKNIANTLMAKALQECPNSGILWSEAIFLEARPQRRTKSVDALKKCEHDPHVLLAVAKLFWSQRKITKAREWFHRTVKIDSDLGDAWAFFYKFELQHGTEEQQEEVRKRCESAEPRHGELWCAVSKDIANWQKKIGDILRLVAGRIKNTF", "length": 901, "header": "sp|O94906-2|PRP6_HUMAN Isoform 2 of Pre-mRNA-processing factor 6 OS=Homo sapiens OX=9606 GN=PRPF6 PE=1 SV=1 CANONICAL=O94906-1" }, "locus": {} } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 670, "start_aa": "Ser", "end_pos": 670, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser670", "evidence": [ { "id": "O94906", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O94906" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 671, "start_aa": "Ser", "end_pos": 671, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser671", "evidence": [ { "id": "O94906", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O94906" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 828, "start_aa": "Thr", "end_pos": 828, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr828", "evidence": [ { "id": "O94906", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O94906" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "28510447", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28510447" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" }, { "id": "25367160", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25367160" }, { "id": "O94906", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O94906" } ] } ], "phosphorylation": [ { "start_pos": 143, "end_pos": 143, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O94906", "url": "https://www.uniprot.org/uniprot/O94906" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "O94906", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O94906" } ], "site_lbl": "Ser143" }, { "start_pos": 180, "end_pos": 180, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "O94906", "url": "https://www.uniprot.org/uniprot/O94906" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "O94906", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O94906" } ], "site_lbl": "Thr180" }, { "start_pos": 266, "end_pos": 266, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "O94906", "url": "https://www.uniprot.org/uniprot/O94906" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "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": "iPTMnet", "id": "O94906", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O94906" }, { "database": "PubMed", "id": "19691289", "url": "https://glygen.org/publication/PubMed/19691289" }, { "database": "phospho.ELM", "id": "O94906", "url": "http://phospho.elm.eu.org/byAccession/O94906.html" } ], "site_lbl": "Thr266" }, { "start_pos": 26, "end_pos": 26, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O94906", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O94906" }, { "database": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" } ], "site_lbl": "Thr26" }, { "start_pos": 273, "end_pos": 273, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O94906", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O94906" }, { "database": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" } ], "site_lbl": "Tyr273" }, { "start_pos": 275, "end_pos": 275, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "O94906", "url": "https://www.uniprot.org/uniprot/O94906" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "iPTMnet", "id": "O94906", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O94906" }, { "database": "phospho.ELM", "id": "O94906", "url": "http://phospho.elm.eu.org/byAccession/O94906.html" } ], "site_lbl": "Thr275" }, { "start_pos": 279, "end_pos": 279, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O94906", "url": "https://www.uniprot.org/uniprot/O94906" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "iPTMnet", "id": "O94906", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O94906" }, { "database": "phospho.ELM", "id": "O94906", "url": "http://phospho.elm.eu.org/byAccession/O94906.html" } ], "site_lbl": "Ser279" }, { "start_pos": 30, "end_pos": 30, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O94906", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O94906" }, { "database": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" } ], "site_lbl": "Thr30" }, { "start_pos": 32, "end_pos": 32, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O94906", "url": 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Biophys. Acta", "date": "1999", "authors": "Nishikimi A, Mukai J, Kioka N, Yamada M", "evidence": [ { "database": "UniProtKB", "id": "O94906", "url": "https://www.uniprot.org/uniprot/O94906" } ], "reference": [ { "type": "PubMed", "id": "10561546", "url": "https://glygen.org/publication/PubMed/10561546" } ] }, { "title": "The human homologue of the yeast splicing factor Prp6p contains multiple TPR elements and is stably associated with the U5 snRNP via protein-protein interactions.", "journal": "J. Mol. Biol.", "date": "2000", "authors": "Makarov E M, Makarova O V, Achsel T, L\u00fchrmann R", "evidence": [ { "database": "UniProtKB", "id": "O94906", "url": "https://www.uniprot.org/uniprot/O94906" } ], "reference": [ { "type": "PubMed", "id": "10788320", "url": "https://glygen.org/publication/PubMed/10788320" } ] }, { "title": "Isoform-specific localization of A-RAF in mitochondria.", "journal": "Mol. Cell. Biol.", "date": "2000", "authors": "Yuryev A, Ono M, Goff S A, Macaluso F, Wennogle L P", "evidence": [ { "database": "UniProtKB", "id": "O94906", "url": "https://www.uniprot.org/uniprot/O94906" } ], "reference": [ { "type": "PubMed", "id": "10848612", "url": "https://glygen.org/publication/PubMed/10848612" } ] }, { "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": "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": "Functions of SR proteins in the U12-dependent AT-AC pre-mRNA splicing pathway.", "journal": "RNA (New York, N.Y.)", "date": "2001", "authors": "Hastings ML, Krainer AR", "evidence": [ { "database": "Reactome", "id": "R-HSA-72165", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72165" } ], "reference": [ { "type": "PubMed", "id": "11333026", "url": "https://glygen.org/publication/PubMed/11333026" } ] }, { "title": "Splicing-related catalysis by protein-free snRNAs.", "journal": "Nature", "date": "2001", "authors": "Valadkhan S, Manley JL", "evidence": [ { "database": "Reactome", "id": "R-HSA-72165", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72165" } ], "reference": [ { "type": "PubMed", "id": "11607023", "url": "https://glygen.org/publication/PubMed/11607023" } ] }, { "title": "Purification and characterization of native spliceosomes suitable for three-dimensional structural analysis.", "journal": "RNA", "date": "2002", "authors": "Jurica MS, Licklider LJ, Gygi SR, Grigorieff N, Moore MJ", "evidence": [ { "database": "UniProtKB", "id": "O94906", "url": "https://www.uniprot.org/uniprot/O94906" }, { "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": "Activation function-1 domain of androgen receptor contributes to the interaction between subnuclear splicing factor compartment and nuclear receptor compartment. Identification of the p102 U5 small nuclear ribonucleoprotein particle-binding protein as a coactivator for the receptor.", "journal": "The Journal of biological chemistry", "date": "2002-08-16", "authors": "Zhao Yue, Goto Kiminobu, Saitoh Masayuki, Yanase Toshihiko, Nomura Masatoshi, Okabe Taijiro, Takayanagi Ryoichi, Nawata Hajime", "evidence": [ { "database": "UniProtKB", "id": "O94906", "url": "https://www.uniprot.org/uniprot/O94906" } ], "reference": [ { "type": "PubMed", "id": "12039962", "url": "https://glygen.org/publication/PubMed/12039962" } ] }, { "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": "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": "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": "The network of protein-protein interactions within the human U4/U6.U5 tri-snRNP.", "journal": "RNA", "date": "2006", "authors": "Liu S, Rauhut R, Vornlocher HP, Luhrmann R", "evidence": [ { "database": "UniProtKB", "id": "O94906", "url": "https://www.uniprot.org/uniprot/O94906" } ], "reference": [ { "type": "PubMed", "id": "16723661", "url": "https://glygen.org/publication/PubMed/16723661" } ] }, { "title": "Protein composition and electron microscopy structure of affinity-purified human spliceosomal B complexes isolated under physiological conditions.", "journal": "Molecular and cellular biology", "date": "2006", "authors": "Deckert J, Hartmuth K, Boehringer D, Behzadnia N, Will CL, Kastner B, Stark H, Urlaub H, Luhrmann R", "evidence": [ { "database": "Reactome", "id": "R-HSA-72163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163" } ], "reference": [ { "type": "PubMed", "id": "16809785", "url": "https://glygen.org/publication/PubMed/16809785" } ] }, { "title": "Protein composition of human mRNPs spliced in vitro and differential requirements for mRNP protein recruitment.", "journal": "RNA (New York, N.Y.)", "date": "2007", "authors": "Merz C, Urlaub H, Will CL, Luhrmann R", "evidence": [ { "database": "Reactome", "id": "R-HSA-72163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163" } ], "reference": [ { "type": "PubMed", "id": "17095540", "url": "https://glygen.org/publication/PubMed/17095540" } ] }, { "title": "Composition and three-dimensional EM structure of double affinity-purified, human prespliceosomal A complexes.", "journal": "The EMBO journal", "date": "2007", "authors": "Behzadnia N, Golas MM, Hartmuth K, Sander B, Kastner B, Deckert J, Dube P, Will CL, Urlaub H, Stark H, Luhrmann R", "evidence": [ { "database": "Reactome", "id": "R-HSA-72163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163" } ], "reference": [ { "type": "PubMed", "id": "17332742", "url": "https://glygen.org/publication/PubMed/17332742" } ] }, { "title": "Splicing remodels messenger ribonucleoprotein architecture via eIF4A3-dependent and -independent recruitment of exon junction complex components.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2007", "authors": "Zhang Z, Krainer AR", "evidence": [ { "database": "Reactome", "id": "R-HSA-72163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163" } ], "reference": [ { "type": "PubMed", "id": "17606899", "url": "https://glygen.org/publication/PubMed/17606899" } ] }, { "title": "Protein-free spliceosomal snRNAs catalyze a reaction that resembles the first step of splicing.", "journal": "RNA (New York, N.Y.)", "date": "2007", "authors": "Valadkhan S, Mohammadi A, Wachtel C, Manley JL", "evidence": [ { "database": "Reactome", "id": "R-HSA-72165", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72165" } ], "reference": [ { "type": "PubMed", "id": "17940139", "url": "https://glygen.org/publication/PubMed/17940139" } ] }, { "title": "Isolation of an active step I 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development", "date": "2008", "authors": "Shen H, Zheng X, Shen J, Zhang L, Zhao R, Green MR", "evidence": [ { "database": "Reactome", "id": "R-HSA-72163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163" } ], "reference": [ { "type": "PubMed", "id": "18593880", "url": "https://glygen.org/publication/PubMed/18593880" } ] }, { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "O94906", "url": "https://www.uniprot.org/uniprot/O94906" }, { "database": "iPTMnet", "id": "O94906-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O94906-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Spliceosomal cleavage generates the 3' 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Paine ML", "evidence": [ { "database": "Reactome", "id": "R-HSA-72163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163" } ], "reference": [ { "type": "PubMed", "id": "19165350", "url": "https://glygen.org/publication/PubMed/19165350" } ] }, { "title": "Exon, intron and splice site locations in the spliceosomal B complex.", "journal": "The EMBO journal", "date": "2009", "authors": "Wolf E, Kastner B, Deckert J, Merz C, Stark H, Luhrmann R", "evidence": [ { "database": "Reactome", "id": "R-HSA-72163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163" } ], "reference": [ { "type": "PubMed", "id": "19536130", "url": "https://glygen.org/publication/PubMed/19536130" } ] }, { "title": "Quantitative analysis of the human spindle phosphoproteome at distinct mitotic stages.", "journal": "Journal of proteome research", "date": "2009", "authors": "Malik R, Lenobel R, Santamaria A, Ries A, Nigg EA, Korner R", "evidence": [ { "database": "iPTMnet", "id": "O94906-1", "url": 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AN, Lin RJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-72163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163" } ], "reference": [ { "type": "PubMed", "id": "20423332", "url": "https://glygen.org/publication/PubMed/20423332" } ] }, { "title": "Characterization of purified human Bact spliceosomal complexes reveals compositional and morphological changes during spliceosome activation and first step catalysis.", "journal": "RNA (New York, N.Y.)", "date": "2010", "authors": "Bessonov S, Anokhina M, Krasauskas A, Golas MM, Sander B, Will CL, Urlaub H, Stark H, Luhrmann R", "evidence": [ { "database": "Reactome", "id": "R-HSA-72163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163" } ], "reference": [ { "type": "PubMed", "id": "20980672", "url": "https://glygen.org/publication/PubMed/20980672" } ] }, { "title": "Semiquantitative proteomic analysis of the human spliceosome via a novel two-dimensional gel electrophoresis method.", "journal": "Molecular and cellular biology", "date": "2011", "authors": "Agafonov DE, Deckert J, Wolf E, Odenwalder P, Bessonov S, Will CL, Urlaub H, Luhrmann R", "evidence": [ { "database": "Reactome", "id": "R-HSA-72163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163" } ], "reference": [ { "type": "PubMed", "id": "21536652", "url": "https://glygen.org/publication/PubMed/21536652" } ] }, { "title": "A missense mutation in PRPF6 causes impairment of pre-mRNA splicing and autosomal-dominant retinitis pigmentosa.", "journal": "American journal of human genetics", "date": "2011", "authors": "Tanackovic G, Ransijn A, Ayuso C, Harper S, Berson EL, Rivolta C", "evidence": [ { "database": "UniProtKB", "id": "O94906", "url": "https://www.uniprot.org/uniprot/O94906" } ], "reference": [ { "type": "PubMed", "id": "21549338", "url": "https://glygen.org/publication/PubMed/21549338" } ] }, { "title": "Evidence for base-pairing between mammalian U2 and U6 small nuclear ribonucleoprotein particles.", "journal": "Genes & development", "date": "1990", "authors": "Hausner TP, Giglio LM, Weiner AM", "evidence": [ { "database": "Reactome", "id": "R-HSA-72163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163" } ], "reference": [ { "type": "PubMed", "id": "2176635", "url": "https://glygen.org/publication/PubMed/2176635" } ] }, { "title": "Functional mammalian spliceosomal complex E contains SMN complex proteins in addition to U1 and U2 snRNPs.", "journal": "Nucleic acids research", "date": "2012", "authors": "Makarov EM, Owen N, Bottrill A, Makarova OV", "evidence": [ { "database": "Reactome", "id": "R-HSA-72163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163" } ], "reference": [ { "type": "PubMed", "id": "22110043", "url": "https://glygen.org/publication/PubMed/22110043" } ] }, { "title": "Mutations in the gene DNAJC5 cause autosomal dominant Kufs disease in a proportion of cases: study of the Parry family and 8 other families.", "journal": "PloS one", "date": "2012", 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Leelaram MN, Agafonov DE, Dybkov O, Will CL, Bertram K, Urlaub H, Kastner B, Stark H, Luhrmann R", "evidence": [ { "database": "Reactome", "id": "R-HSA-72163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163" } ], "reference": [ { "type": "PubMed", "id": "33243851", "url": "https://glygen.org/publication/PubMed/33243851" } ] }, { "title": "PRPF6 promotes androgen receptor/androgen receptor-variant 7 actions in castration-resistant prostate cancer cells.", "journal": "International journal of biological sciences", "date": "2021", "authors": "Liu W, Wang C, Wang S, Zeng K, Wei S, Sun N, Sun G, Wang M, Zou R, Liu W, Lin L, Song H, Jin Z, Zhao Y", "evidence": [ { "database": "RefSeq", "id": "NP_036601", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036601" } ], "reference": [ { "type": "PubMed", "id": "33390843", "url": "https://glygen.org/publication/PubMed/33390843" } ] }, { "title": "Structure of a transcribing RNA polymerase II-U1 snRNP complex.", "journal": "Science (New York, N.Y.)", "date": "2021", "authors": "Zhang S, Aibara S, Vos SM, Agafonov DE, Luhrmann R, Cramer P", "evidence": [ { "database": "Reactome", "id": "R-HSA-72163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163" } ], "reference": [ { "type": "PubMed", "id": "33446560", "url": "https://glygen.org/publication/PubMed/33446560" } ] }, { "title": "O-GlcNAc modification regulates MTA1 transcriptional activity during breast cancer cell genotoxic adaptation.", "journal": "Biochimica et biophysica acta. General subjects", "date": "2021", "authors": "Xie X, Wu Q, Zhang K, Liu Y, Zhang N, Chen Q, Wang L, Li W, Zhang J, Liu Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "O94906", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O94906" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "SANS (USH1G) regulates pre-mRNA splicing by mediating the intra-nuclear transfer of tri-snRNP complexes.", "journal": "Nucleic Acids Res.", "date": "2021", "authors": "Yildirim A, Mozaffari-Jovin S, Wallisch AK, Schafer J, Ludwig SEJ, Urlaub H, Luhrmann R, Wolfrum U", "evidence": [ { "database": "UniProtKB", "id": "O94906", "url": "https://www.uniprot.org/uniprot/O94906" } ], "reference": [ { "type": "PubMed", "id": "34023904", "url": "https://glygen.org/publication/PubMed/34023904" } ] }, { "title": "Structural basis of intron selection by U2 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": "Structural basis of branch site recognition by the human spliceosome.", "journal": "Science (New York, 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": "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": "O94906", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O94906" } ], "reference": [ { "type": "PubMed", "id": "37217939", "url": "https://glygen.org/publication/PubMed/37217939" } ] }, { "title": "PRPF6 promotes metastasis and paclitaxel resistance of ovarian cancer via SNHG16/CEBPB/GATA3 axis.", "journal": "Oncology research", "date": "2021", "authors": "Wang Han, Zhou Yingying, Zhang Siyang, Qi Y A, Wang Min", "evidence": [ { "database": "RefSeq", "id": "NP_036601", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036601" } ], "reference": [ { "type": "PubMed", "id": "37303939", "url": "https://glygen.org/publication/PubMed/37303939" } ] }, { "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": "Pathogenic Variants in USH1G/SANS Alter Protein Interaction with Pre-RNA Processing Factors PRPF6 and PRPF31 of the Spliceosome.", "journal": "International journal of molecular sciences", "date": "2023-12-18", "authors": "Fritze Jacques S, Stiehler Felizitas F, Wolfrum Uwe", 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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:24148", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:24148", "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" }, { "id": "R-HSA-72165", "name": "mRNA Splicing - Minor Pathway", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72165", "resource": "Reactome", "description": "mRNA Splicing - Minor Pathway" } ], 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