{ "uniprot_canonical_ac": "O75400-1", "uniprot_ac": "O75400", "uniprot_id": "PR40A_HUMAN", "mass": { "chemical_mass": 108805.0, "monoisotopic_mass": 108805.0 }, "refseq": { "ac": "NP_060362", "name": "pre-mRNA-processing factor 40 homolog A isoform 1", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060362" }, "gene_names": [ { "name": "PRPF40A", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O75400", "id": "O75400" }, { "name": "FBP-11; FBP11; FLAF1; FNBP3; HIP-10; HIP10; HYPA; NY-REN-6; Prp40", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060362", "id": "NP_060362" }, { "name": "FBP11", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O75400", "id": "O75400" }, { "name": "FLAF1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O75400", "id": "O75400" }, { "name": "FNBP3", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O75400", "id": "O75400" }, { "name": "HIP10", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O75400", "id": "O75400" }, { "name": "HSPC225", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O75400", "id": "O75400" }, { "name": "HYPA", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O75400", "id": "O75400" }, { "name": "PRPF40A", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060362", "id": "NP_060362" }, { "name": "hCG_1811743", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O75400", "id": "O75400" } ], "protein_names": [ { "name": "Pre-mRNA-processing factor 40 homolog A", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O75400" }, { "name": "Fas ligand-associated factor 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75400" }, { "name": "Formin-binding protein 11", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75400" }, { "name": "Formin-binding protein 3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75400" }, { "name": "HIP-10", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75400" }, { "name": "Huntingtin yeast partner A", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75400" }, { "name": "Huntingtin-interacting protein 10", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75400" }, { "name": "Huntingtin-interacting protein A", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75400" }, { "name": "Renal carcinoma antigen NY-REN-6", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75400" }, { "name": "formin binding protein 3; Huntingtin-interacting protein A; NY-REN-6 antigen; Fas-ligand associated factor 1; formin-binding protein 11; huntingtin yeast partner A; fas ligand-associated factor 1; renal carcinoma antigen NY-REN-6; huntingtin-interacting protein 10; PRP40 pre-mRNA processing factor 40 homolog A", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060362", "id": "NP_060362" }, { "name": "pre-mRNA-processing factor 40 homolog A isoform 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060362", "id": "NP_060362" } ], "function": [ { "annotation": "Binds to WASL/N-WASP and suppresses its translocation from the nucleus to the cytoplasm, thereby inhibiting its cytoplasmic function (By similarity). Plays a role in the regulation of cell morphology and cytoskeletal organization. Required in the control of cell shape and migration. May play a role in cytokinesis. May be involved in pre-mRNA splicing.", "evidence": [ { "database": "UniProtKB", "id": "O75400", "url": "https://www.uniprot.org/uniprot/O75400#function" }, { "database": "PubMed", "id": "21834987", "url": "https://glygen.org/publication/PubMed/21834987" } ] }, { "annotation": "Data describe the structure of an FF domain from HYPA/FBP11, which differs from those of other phosphopeptide-binding domains and represents a novel phosphopeptide-binding fold.", "evidence": [ { "database": "RefSeq", "id": "NP_060362", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060362" }, { "database": "PubMed", "id": "12381297", "url": "https://glygen.org/publication/PubMed/12381297" } ] }, { "annotation": "Multidisciplinary approach showed that HsPrp40Ap interacts with centrin in vitro, supporting a coupled functional role for these proteins in pre-mRNA splicing.", "evidence": [ { "database": "RefSeq", "id": "NP_060362", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060362" }, { "database": "PubMed", "id": "28636910", "url": "https://glygen.org/publication/PubMed/28636910" } ] }, { "annotation": "Our data revealed that COL1A1, UCP2, and PRPF40A are novel players implicated in the complex network of hypoxia response in non-small cell lung cancer", "evidence": [ { "database": "RefSeq", "id": "NP_060362", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060362" }, { "database": "PubMed", "id": "28258342", "url": "https://glygen.org/publication/PubMed/28258342" } ] }, { "annotation": "Study of native domain FF3-71 from human HYPA/FBP11 and the truncated version FF3-60 with C-terminal helix being deleted by molecular dynamics simulations.", "evidence": [ { "database": "RefSeq", "id": "NP_060362", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060362" }, { "database": "PubMed", "id": "22408419", "url": "https://glygen.org/publication/PubMed/22408419" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs1307844716", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1307844716" }, { "id": "rs1307844716", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1307844716" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 202, "end_pos": 202, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SQT->NQT).", "chr_id": "2", "chr_pos": "152679082", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S202", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1415022876", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1415022876" }, { "id": "rs1415022876", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1415022876" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 207, "end_pos": 207, "sequence_org": "S", "sequence_mut": "L", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->L).", "chr_id": "2", "chr_pos": "152679435", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S207", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs752132710", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752132710" }, { "id": "rs752132710", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752132710" }, { "id": "rs752132710", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs752132710" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 207, "end_pos": 207, "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->P).", "chr_id": "2", "chr_pos": "152679068", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S207", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1463036200", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1463036200" }, { "id": "rs1463036200", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1463036200" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 333, "end_pos": 333, "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (TIS->NIS).", "chr_id": "2", "chr_pos": "152676519", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T333", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1246688288", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1246688288" }, { "id": "rs1246688288", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1246688288#frequency_tab" }, { "id": "rs1246688288", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1246688288" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 343, "end_pos": 343, "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (TST->NST).", "chr_id": "2", "chr_pos": "152676489", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T343", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs765620625", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765620625" }, { "id": "rs765620625", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765620625" }, { "id": "rs765620625", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs765620625" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 357, "end_pos": 357, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SNT->NNT).", "chr_id": "2", "chr_pos": "152676447", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S357", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs763284771", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763284771" }, { "id": "rs763284771", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763284771" }, { "id": "rs763284771", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs763284771" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 78, "end_pos": 78, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NMP->NMS).", "chr_id": "2", "chr_pos": "152716060", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P78", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs944976060", "database": "dbSNP", "url": 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"namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "91.97", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000196504", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000196504" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "93.82", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000196504", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000196504" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "86.73", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000196504", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000196504" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "94.62", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000196504", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000196504" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "93.52", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000196504", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000196504" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "89.51", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000196504", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000196504" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "95.3", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000196504", "url": 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"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 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"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": 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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": "O75400", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75400" } ], "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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"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": "No", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O75400", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75400" } ], "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/O75400" } ], "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": "No", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { 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"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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"malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O75400", "url": "https://www.uniprot.org/uniprot/O75400" } ], "common_name": "Human" } ], "gene": [ { "name": "PRPF40A", "url": "https://www.uniprot.org/uniprot/O75400", "locus": { "chromosome": "2", "start_pos": 152651593, "end_pos": 152718012, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000196504", "url": "https://www.ensembl.org/id/ENSG00000196504" } ] } } ], "crossref": [ { "id": "ENSG00000196504", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000196504", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "cd00201", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd00201", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "PRPF40A", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRPF40A", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "55660", "url": "https://www.ncbi.nlm.nih.gov/gene/55660", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "16463", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=16463", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "H7C2N3", "url": "https://www.ebi.ac.uk/intact/interactors/id:H7C2N3*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "O75400", "url": "https://www.ebi.ac.uk/intact/interactors/id:O75400*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR001202", "url": "https://www.ebi.ac.uk/interpro/entry/IPR001202", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR002713", "url": "https://www.ebi.ac.uk/interpro/entry/IPR002713", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036020", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036020", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036517", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036517", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR039726", "url": "https://www.ebi.ac.uk/interpro/entry/IPR039726", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR045148", "url": "https://www.ebi.ac.uk/interpro/entry/IPR045148", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:55660", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:55660", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "612941", "url": "http://www.omim.org/entry/612941", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O75400", "url": "https://www.nextprot.org/entry/NX_O75400", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "O75400", "url": "https://oglcnac.org/atlas/detail/O75400", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "O75400", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O75400", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "RDEIFQD", "url": "https://omabrowser.org/oma/group/RDEIFQD/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "25674at2759", "url": "http://www.orthodb.org/?query=25674at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR11864", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11864", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR11864:SF20", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11864:SF20", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR15377", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR15377", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR15377:SF3", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR15377:SF3", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "1UZC", "url": "https://www.rcsb.org/structure/1UZC", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "1YWI", "url": "https://www.rcsb.org/structure/1YWI", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "1YWJ", "url": "https://www.rcsb.org/structure/1YWJ", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "1ZR7", "url": "https://www.rcsb.org/structure/1ZR7", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "2CQN", "url": "https://www.rcsb.org/structure/2CQN", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "2DYF", "url": "https://www.rcsb.org/structure/2DYF", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "2KZG", "url": "https://www.rcsb.org/structure/2KZG", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "2L5F", "url": "https://www.rcsb.org/structure/2L5F", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "2L9V", "url": "https://www.rcsb.org/structure/2L9V", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "2LKS", "url": "https://www.rcsb.org/structure/2LKS", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF00397", "url": "http://pfam.xfam.org/family/PF00397", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF01846", "url": "http://pfam.xfam.org/family/PF01846", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O75400", "url": "https://pharos.nih.gov/targets/O75400", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O75400", "url": "http://purl.obolibrary.org/obo/PR_O75400", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-72163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_060362", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060362", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "A0A7N4I394", "url": "https://www.uniprot.org/uniprot/A0A7N4I394", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7N4I394-1", "url": "https://www.uniprot.org/uniprot/A0A7N4I394-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8Q3SIG7", "url": "https://www.uniprot.org/uniprot/A0A8Q3SIG7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8Q3SIG7-1", "url": "https://www.uniprot.org/uniprot/A0A8Q3SIG7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8V8TM61", "url": "https://www.uniprot.org/uniprot/A0A8V8TM61", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8V8TM61-1", "url": "https://www.uniprot.org/uniprot/A0A8V8TM61-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8V8TM87", "url": "https://www.uniprot.org/uniprot/A0A8V8TM87", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8V8TM87-1", "url": "https://www.uniprot.org/uniprot/A0A8V8TM87-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F5H578", "url": "https://www.uniprot.org/uniprot/F5H578", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F5H578-1", "url": "https://www.uniprot.org/uniprot/F5H578-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YG38", "url": "https://www.uniprot.org/uniprot/H0YG38", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YG38-1", "url": "https://www.uniprot.org/uniprot/H0YG38-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7BXZ7", "url": "https://www.uniprot.org/uniprot/H7BXZ7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7BXZ7-1", "url": "https://www.uniprot.org/uniprot/H7BXZ7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7C2N3", "url": "https://www.uniprot.org/uniprot/H7C2N3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7C2N3-1", "url": "https://www.uniprot.org/uniprot/H7C2N3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75400", "url": "https://www.uniprot.org/uniprot/O75400", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75400-1", "url": "https://www.uniprot.org/uniprot/O75400-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75400-2", "url": "https://www.uniprot.org/uniprot/O75400-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75400-3", "url": "https://www.uniprot.org/uniprot/O75400-3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75400-5", "url": "https://www.uniprot.org/uniprot/O75400-5", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MRPGTGAERGGLMVSEMESHPPSQGPGDGERRLSGSSLCSGSWVSADGFLRRRPSMGHPGMHYAPMGMHPMGQRANMPPVPHGMMPQMMPPMGGPPMGQMPGMMSSVMPGMMMSHMSQASMQPALPPGVNSMDVAAGTASGAKSMWTEHKSPDGRTYYYNTETKQSTWEKPDDLKTPAEQLLSKCPWKEYKSDSGKPYYYNSQTKESRWAKPKELEDLEGYQNTIVAGSLITKSNLHAMIKAEESSKQEECTTTSTAPVPTTEIPTTMSTMAAAEAAAAVVAAAAAAAAAAAAANANASTSASNTVSGTVPVVPEPEVTSIVATVVDNENTVTISTEEQAQLTSTPAIQDQSVEVSSNTGEETSKQETVADFTPKKEEEESQPAKKTYTWNTKEEAKQAFKELLKEKRVPSNASWEQAMKMIINDPRYSALAKLSEKKQAFNAYKVQTEKEEKEEARSKYKEAKESFQRFLENHEKMTSTTRYKKAEQMFGEMEVWNAISERDRLEIYEDVLFFLSKKEKEQAKQLRKRNWEALKNILDNMANVTYSTTWSEAQQYLMDNPTFAEDEELQNMDKEDALICFEEHIRALEKEEEEEKQKSLLRERRRQRKNRESFQIFLDELHEHGQLHSMSSWMELYPTISSDIRFTNMLGQPGSTALDLFKFYVEDLKARYHDEKKIIKDILKDKGFVVEVNTTFEDFVAIISSTKRSTTLDAGNIKLAFNSLLEKAEAREREREKEEARKMKRKESAFKSMLKQAAPPIELDAVWEDIRERFVKEPAFEDITLESERKRIFKDFMHVLEHECQHHHSKNKKHSKKSKKHHRKRSRSRSGSDSDDDDSHSKKKRQRSESRSASEHSSSAESERSYKKSKKHKKKSKKRRHKSDSPESDAEREKDKKEKDRESEKDRTRQRSESKHKSPKKKTGKDSGNWDTSGSELSEGELEKRRRTLLEQLDDDQ", "length": 957, "header": "sp|O75400-1|PR40A_HUMAN Isoform 1 of Pre-mRNA-processing factor 40 homolog A OS=Homo sapiens OX=9606 GN=PRPF40A PE=1 SV=2 CANONICAL=O75400-1" }, "isoforms": [ { "isoform_ac": "A0A7N4I394-1", "url": "", "sequence": { "sequence": "MQATPSEAEAGGESPQSCVSAAHSDWTAGKPVSLLAPLIPPRSAGQPLTFSPSGRQPLRSLLVGMCSGSGRRRSSLSPTMRPGTGAERGGLMMGHPGMHYAPMGMHPMGQRANMPPVPHGMMPQMMPPMGGPPMGQMPGMMSSVMPGMMMSHMSQASMQPALPPGVNSMDVAAGTASGAKSMWTEHKSPDGRTYYYNTETKQSTWEKPDDLKTPAEQLLSKCPWKEYKSDSGKPYYYNSQTKESRWAKPKELEDLEGYQNTIVAGSLITKSNLHAMIKAEESSKQEECTTTSTAPVPTTEIPTTMSTMAAAEAAAAVVAAAAAAAAAAAAANANASTSASNTVSGTVPVVPEPEVTSIVATVVDNENTVTISTEEQAQLTSTPAIQDQSVEVSSNTGEETSKQETVADFTPKKEEEESQPAKKTYTWNTKEEAKQAFKELLKEKRVPSNASWEQAMKMIINDPRYSALAKLSEKKQAFNAYKVQTEKEEKEEARSKYKEAKESFQRFLENHEKMTSTTRYKKAEQMFGEMEVWNAISERDRLEIYEDVLFFLSKKEKEQAKQLRKRNWEALKNILDNMANVTYSTTWSEAQQYLMDNPTFAEDEELQNMDKEDALICFEEHIRALEKEEEEEKQKSLLRERRRQRKNRESFQIFLDELHEHGQLHSMSSWMELYPTISSDIRFTNMLGQPGSTALDLFKFYVEDLKARYHDEKKIIKDILKDKGFVVEVNTTFEDFVAIISSTKRSTTLDAGNIKLAFNSLLEKAEAREREREKEEARKMKRKESAFKSMLKQAAPPIELDAVWEDIRERFVKEPAFEDITLESERKRIFKDFMHVLEHECQHHHSKNKKHSKKSKKHHRKRSRSRSGSDSDDDDSHSKKKRQRSESRSASEHSSSAESERSYKKSKKHKKKSKKRRHKSDSPESDAEREKDKKEKDRESEKDRTRQRSESKHKSPKKKTGKDSGNWDTSGSELSEGELEKRRRTLLEQLDDDQ", "length": 994, "header": "tr|A0A7N4I394-1|A0A7N4I394_HUMAN Computationally mapped isoform of Pre-mRNA processing factor 40 homolog A OS=Homo sapiens OX=9606 GN=PRPF40A PE=1 SV=1 CANONICAL=O75400-1" }, "locus": { "chromosome": "2", "start_pos": 152717631, "end_pos": 152656309, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000410080.8", "url": "https://www.ensembl.org/id/ENST00000410080.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000386458.4", "url": "https://www.ensembl.org/id/ENSP00000386458.4" } ] } }, { "isoform_ac": "A0A8Q3SIG7-1", "url": "", "sequence": { "sequence": "MRPGTGAERGGLMMGHPGMHYAPMGMHPMGQRANMPPVPHGMMPQMMPPMGGPPMGQMPGMMSSVMPGMMMSHMSQASMQPALPPGVNSMDVAAGTASGAKSMWTEHKSPDGRTYYYNTETKQSTWEKPDDLKTPAEQLLSKCPWKEYKSDSGKPYYYNSQTKESRWAKPKELEDLEGYQNTIVAGSLITKSNLHAMIKAEESSKQEECTTTSTAPVPTTEIPTTMSTMAAAEAAAAVVAAAAAAAAAAAAANANASTSASNTVSGTVPVVPEPEVTSIVATVVDNENTVTISTEEQAQLTSTPAIQDQSVEVSSNTGEETSKQETVADFTPKKEEEESQPAKKTYTWNTKEEAKQAFKELLKEKRVPSNASWEQAMKMIINDPRYSALAKLSEKKQAFNAYKVQTEKEEKEEARSKYKEAKESFQRFLENHEKMTSTTRYKKAEQMFGEMEVWNAISERDRLEIYEDVLFFLSKKEKEQAKQLRKRNWEALKNILDNMANVTYSTTWSEAQQYLMDNPTFAEDEELQNMDKEDALICFEEHIRALEKEEEEEKQKSLLRERRRQRKNRESFQIFLDELHEHGQLHSMSSWMELYPTISSDIRFTNMLGQPGSTALDLFKFYVEDLKARYHDEKKIIKDILKDKGFVVEVNTTFEDFVAIISSTKRSTTLDAGNIKLAFNSLLEKAEAREREREKEEARKMKRKESAFKSMLKQAAPPIELDAVWEDIRERFVKEPAFEDITLESERKRIFKDFMHVLEHECQHHHSKNKKHSKKSKKHHRKRSRSRSGSDSDDDDSHSKKKRQRSESRSASEHSSSAESERSYKKSKKHKKKSKKRRHKSDSPESDAEREKDKKEKDRESEKDRTRQRSESKHKSPKKKTGKDSGNWDTSGSELSEGELEKRRRTLLEQLDDDQ", "length": 915, "header": "tr|A0A8Q3SIG7-1|A0A8Q3SIG7_HUMAN Computationally mapped isoform of Pre-mRNA processing factor 40 homolog A OS=Homo sapiens OX=9606 GN=PRPF40A PE=1 SV=1 CANONICAL=O75400-1" }, "locus": { "chromosome": "2", "start_pos": 152717394, "end_pos": 152656309, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000696382.1", "url": "https://www.ensembl.org/id/ENST00000696382.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000512592.1", "url": "https://www.ensembl.org/id/ENSP00000512592.1" } ] } }, { "isoform_ac": "A0A8V8TM61-1", "url": "", "sequence": { "sequence": "MCSGSGRRRSSLSPTMRPGTGAERGGLMMGHPGMHYAPMGMHPMGQRANMPPVPHGMMPQMMPPMGGPPMGQMPGMMSSVMPGMMMSHMSQASMQPALPPGVNSMDVAAGTASGAKSMWTEHKSPDGRTYYYNTETKQSTWEKPDDLKTPAEQLLSKCPWKEYKSDSGKPYYYNSQTKESRWAKPKELEDLEGYQNTIVAGSLITKSNLHAMIKAEESSKQEECTTTSTAPVPTTEIPTTMSTMAAAEAAAAVVAAAAAAAAAAAAANANASTSASNTVSGTVPVVPEPEVTSIVATVVDNENTVTISTEEQAQLTSTPAIQDQSVEVSSNTGEETSKQETVADFTPKKEEEESQPAKKTYTWNTKEEAKQAFKELLKEKRVPSNASWEQAMKMIINDPRYSALAKLSEKKQAFNAYKVQTEKEEKEEARSKYKEAKESFQRFLENHEKMTSTTRYKKAEQMFGEMEVWNAISERDRLEIYEDVLFFLSKKEKEQAKQLRKRNWEALKNILDNMANVTYSTTWSEAQQYLMDNPTFAEDEELQNMDKEDALICFEEHIRALEKEEEEEKQKSLLRERRRQRKNRESFQIFLDELHEHGQLHSMSSWMELYPTISSDIRFTNMLGQPVFSLGSTALDLFKFYVEDLKARYHDEKKIIKDILKDKGFVVEVNTTFEDFVAIISSTKRSTTLDAGNIKLAFNSLLEKAEAREREREKEEARKMKRKESAFKSMLKQAAPPIELDAVWEDIRERFVKEPAFEDITLESERKRIFKDFMHVLEHECQHHHSKNKKHSKKSKKHHRKRSRSRSGSDSDDDDSHSKKKRQRSESRSASEHSSSAESERSYKKSKKHKKKSKKRRHKSDSPESDAEREKDKKEKDRESEKDRTRQRSESKHKSPKKKTGKDSGNWDTSGSELSEGELEKRRRTLLEQLDDDQ", "length": 934, "header": "tr|A0A8V8TM61-1|PR40A_HUMAN Computationally mapped isoform of Pre-mRNA-processing factor 40 homolog A OS=Homo sapiens OX=9606 GN=PRPF40A PE=1 SV=1 CANONICAL=O75400-1" }, "locus": { "chromosome": "2", "start_pos": 152717439, "end_pos": 152656309, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000698772.1", "url": "https://www.ensembl.org/id/ENST00000698772.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000513920.1", "url": "https://www.ensembl.org/id/ENSP00000513920.1" } ] } }, { "isoform_ac": "A0A8V8TM87-1", "url": "", "sequence": { "sequence": "MCSGSGRRRSSLSPTMRPGTGAERGGLMMGHPGMHYAPMGMHPMGQRANMPPVPHGMMPQMMPPMGGPPMGQMPGMMSSVMPGMMMSHMSQASMQPALPPGVNSMDVAAGTASGAKSMWTEHKSPDGRTYYYNTETKQSTWEKPDDLKTPAEQLLSKCPWKEYKSDSGKPYYYNSQTKESRWAKPKELEDLEGYQNTIVAGSLITKSNLHAMIKAEESSKQEECTTTSTAPVPTTEIPTTMSTMAAAEAAAAVVAAAAAAAAAAAAANANASTSASNTVSGTVPVVPEPEVTSIVATVVDNENTVTISTEEQAQLTSTPAIQDQSVEVSSNTGEETSKQETVADFTPKKEEEESQPAKKTYTWNTKEEAKQAFKELLKEKRVPSNASWEQAMKMIINDPRYRYALAKLSEKKQAFNAYKVQTEKEEKEEARSKYKEAKESFQRFLENHEKMTSTTRYKKAEQMFGEMEVWNAISERDRLEIYEDVLFFLSKKEKEQAKQLRKRNWEALKNILDNMANVTYSTTWSEAQQYLMDNPTFAEDEELQNMDKEDALICFEEHIRALEKEEEEEKQKSLLRERRRQRKNRESFQIFLDELHEHGQLHSMSSWMELYPTISSDIRFTNMLGQPGSTALDLFKFYVEDLKARYHDEKKIIKDILKDKGFVVEVNTTFEDFVAIISSTKRSTTLDAGNIKLAFNSLLEKAEAREREREKEEARKMKRKESAFKSMLKQAAPPIELDAVWEDIRERFVKEPAFEDITLESERKRIFKDFMHVLEHECQHHHSKNKKHSKKSKKHHRKRSRSRSGSDSDDDDSHSKKKRQRSESRSASEHSSSAESERSYKKSKKHKKKSKKRRHKSDSPESDAEREKDKKEKDRESEKDRTRQRSESKHKSPKKKTGKDSGNWDTSGSELSEGELEKRRRTLLEQLDDDQ", "length": 931, "header": "tr|A0A8V8TM87-1|A0A8V8TM87_HUMAN Computationally mapped isoform of Pre-mRNA processing factor 40 homolog A OS=Homo sapiens OX=9606 GN=PRPF40A PE=1 SV=1 CANONICAL=O75400-1" }, "locus": { "chromosome": "2", "start_pos": 152717439, "end_pos": 152656309, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000698773.1", "url": "https://www.ensembl.org/id/ENST00000698773.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000513921.1", "url": "https://www.ensembl.org/id/ENSP00000513921.1" } ] } }, { "isoform_ac": "F5H578-1", "url": "", "sequence": { "sequence": "MCSGSGRRRSSLSPTMRPGTGAERGGLMVSEMESHPPSQGPGDGERRLSGSSLCSGSWVSADGFLRRRPSMGHPGMHYAPMGMHPMGQRANMPPVPHGMMPQMMPPMGGPPMGQMPGMMSSVMPGMMMSHMSQASMQPALPPGVNSMDVAAGTASGAKSMWTEHKSPDGRTYYYNTETKQSTWEKPDDLKTPAEQLLSKCPWKEYKSDSGKPYYYNSQTKESRWAKPKELEDLEGYQNTIVAGSLITKSNLHAMIKAEESSKQEECTTTSTAPVPTTEIPTTMSTMAAAEAAAAVVAAAAAAAAAAAAANANASTSASNTVSGTVPVVPEPEVTSIVATVVDNENTVTISTEEQAQLTSTPAIQDQSVEVSSNTGEETSKQETVADFTPKKEEEESQPAKKTYTWNTKEEAKQAFKELLKEKRVPSNASWEQAMKMIINDPRYSALAKLSEKKQAFNAYKVQTEKEEKEEARSKYKEAKESFQRFLENHEKMTSTTRYKKAEQMFGEMEVWNAISERDRLEIYEDVLFFLSKKEKEQAKQLRKRNWEALKNILDNMANVTYSTTWSEAQQYLMDNPTFAEDEELQNMDKEDALICFEEHIRALEKEEEEEKQKSLLRERRRQRKNRESFQIFLDELHEHGQLHSMSSWMELYPTISSDIRFTNMLGQPGSTALDLFKFYVEDLKARYHDEKKIIKDILKDKGFVVEVNTTFEDFVAIISSTKRSTTLDAGNIKLAFNSLLEKAEAREREREKEEARKMKRKESAFKSMLKQAAPPIELDAVWEDIRERFVKEPAFEDITLESERKRIFKDFMHVLEHECQHHHSKNKKHSKKSKKHHRKRSRSRSGSDSDDDDSHSKKKRQRSESRSASEHSSSAESERSYKKSKKHKKKSKKRRHKSDSPESDAEREKDKKEKDRESEKDRTRQRSESKHKSPKKKTGKDSGNWDTSGSELSEGELEKRRRTLLEQLDDDQ", "length": 972, "header": "tr|F5H578-1|PR40A_HUMAN Computationally mapped isoform of Pre-mRNA-processing factor 40 homolog A OS=Homo sapiens OX=9606 GN=PRPF40A PE=1 SV=4 CANONICAL=O75400-1" }, "locus": { "chromosome": "2", "start_pos": 152717439, "end_pos": 152656309, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000545856.8", "url": "https://www.ensembl.org/id/ENST00000545856.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000444656.4", "url": "https://www.ensembl.org/id/ENSP00000444656.4" } ] } }, { "isoform_ac": "H0YG38-1", "url": "", "sequence": { "sequence": "MCSGSGRRRSSLSPTMRPGTGAERGGLMVSEMESHPPSQGPGDGERRLSGSSLCSGSWVSADGFLRRRPSMGHPGMHYAPMGMHPMGQRANMPPVPHGMMPQMMPPMGGPPMGQMPGMMSSVMPGMMMSHMSQASMQPALPPGVNSMDVAAGTASGAKSMWTEHKSPDGRTYYYNTETKQSTWEKPDDLKTPAEQLLSKCPWKEYKSDSGKPYYYNSQTKESRWAKPKELEDLEAMIKAEESSKQEECTTTSTAPVPTTEIPTTMSTMAAAEAAAAVVAAAAAAAAAAAAANANASTSASNTVSGTVPVVPEPEVTSIVATVVDNENTVTISTEEQAQLTSTPAIQDQSVEVSSNTGEETSKQETVA", "length": 367, "header": "tr|H0YG38-1|H0YG38_HUMAN Computationally mapped isoform of Pre-mRNA processing factor 40 homolog A OS=Homo sapiens OX=9606 GN=PRPF40A PE=1 SV=2 CANONICAL=O75400-1" }, "locus": { "chromosome": "2", "start_pos": 152717439, "end_pos": 152676407, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000493468.7", "url": "https://www.ensembl.org/id/ENST00000493468.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000441656.2", "url": "https://www.ensembl.org/id/ENSP00000441656.2" } ] } }, { "isoform_ac": "H7BXZ7-1", "url": "", "sequence": { "sequence": "XLRSLLVGMCSGSGRRRSSLSPTMRPGTGAERGGLMMGHPGMHYAPMGMHPMGQRANMPPVPHGMMPQMMPPMGGPPMGQMPGMMSSVMPGMMMSHMSQASMQPALPLN", "length": 109, "header": "tr|H7BXZ7-1|H7BXZ7_HUMAN Computationally mapped isoform of Pre-mRNA-processing factor 40 homolog A OS=Homo sapiens OX=9606 GN=PRPF40A PE=1 SV=1 CANONICAL=O75400-1" }, "locus": { "chromosome": "2", "start_pos": 152717439, "end_pos": 152693471, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000354363", "url": "https://www.ensembl.org/id/ENST00000354363" }, { "database": "Ensembl Peptide", "id": "ENSP00000346332", "url": "https://www.ensembl.org/id/ENSP00000346332" } ] } }, { "isoform_ac": "H7C2N3-1", "url": "", "sequence": { "sequence": "MCSGSGRRRSSLSPTMRPGTGAERGGLMMGHPGMHYAPMGMHPMGQRANMPPVPHGMMPQMMPPMGGPPMGQMPGMMSSVMPGMMMSHMSQASMQPALPQLLSKCPWKEYKSDSGKPYYYNSQTKESRWAKPKELEDLEGYQNTIVAGSLITKSNLH", "length": 157, "header": "tr|H7C2N3-1|PR40A_HUMAN Computationally mapped isoform of Pre-mRNA-processing factor 40 homolog A OS=Homo sapiens OX=9606 GN=PRPF40A PE=1 SV=2 CANONICAL=O75400-1" }, "locus": { "chromosome": "2", "start_pos": 152717439, "end_pos": 152679057, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000448428.2", "url": "https://www.ensembl.org/id/ENST00000448428.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000406924.2", "url": "https://www.ensembl.org/id/ENSP00000406924.2" } ] } }, { "isoform_ac": "O75400-1", "url": "", "sequence": { "sequence": "MRPGTGAERGGLMVSEMESHPPSQGPGDGERRLSGSSLCSGSWVSADGFLRRRPSMGHPGMHYAPMGMHPMGQRANMPPVPHGMMPQMMPPMGGPPMGQMPGMMSSVMPGMMMSHMSQASMQPALPPGVNSMDVAAGTASGAKSMWTEHKSPDGRTYYYNTETKQSTWEKPDDLKTPAEQLLSKCPWKEYKSDSGKPYYYNSQTKESRWAKPKELEDLEGYQNTIVAGSLITKSNLHAMIKAEESSKQEECTTTSTAPVPTTEIPTTMSTMAAAEAAAAVVAAAAAAAAAAAAANANASTSASNTVSGTVPVVPEPEVTSIVATVVDNENTVTISTEEQAQLTSTPAIQDQSVEVSSNTGEETSKQETVADFTPKKEEEESQPAKKTYTWNTKEEAKQAFKELLKEKRVPSNASWEQAMKMIINDPRYSALAKLSEKKQAFNAYKVQTEKEEKEEARSKYKEAKESFQRFLENHEKMTSTTRYKKAEQMFGEMEVWNAISERDRLEIYEDVLFFLSKKEKEQAKQLRKRNWEALKNILDNMANVTYSTTWSEAQQYLMDNPTFAEDEELQNMDKEDALICFEEHIRALEKEEEEEKQKSLLRERRRQRKNRESFQIFLDELHEHGQLHSMSSWMELYPTISSDIRFTNMLGQPGSTALDLFKFYVEDLKARYHDEKKIIKDILKDKGFVVEVNTTFEDFVAIISSTKRSTTLDAGNIKLAFNSLLEKAEAREREREKEEARKMKRKESAFKSMLKQAAPPIELDAVWEDIRERFVKEPAFEDITLESERKRIFKDFMHVLEHECQHHHSKNKKHSKKSKKHHRKRSRSRSGSDSDDDDSHSKKKRQRSESRSASEHSSSAESERSYKKSKKHKKKSKKRRHKSDSPESDAEREKDKKEKDRESEKDRTRQRSESKHKSPKKKTGKDSGNWDTSGSELSEGELEKRRRTLLEQLDDDQ", "length": 957, "header": "sp|O75400-1|PR40A_HUMAN Isoform 1 of Pre-mRNA-processing factor 40 homolog A OS=Homo sapiens OX=9606 GN=PRPF40A PE=1 SV=2 CANONICAL=O75400-1" }, "locus": { "chromosome": "2", "start_pos": 152717394, "end_pos": 152656309, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000696381.1", "url": "https://www.ensembl.org/id/ENST00000696381.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000512591.1", "url": "https://www.ensembl.org/id/ENSP00000512591.1" } ] } }, { "isoform_ac": "O75400-2", "url": "", "sequence": { "sequence": "MCSGSGRRRSSLSPTMRPGTGAERGGLMMGHPGMHYAPMGMHPMGQRANMPPVPHGMMPQMMPPMGGPPMGQMPGMMSSVMPGMMMSHMSQASMQPALPPGVNSMDVAAGTASGAKSMWTEHKSPDGRTYYYNTETKQSTWEKPDDLKTPAEQLLSKCPWKEYKSDSGKPYYYNSQTKESRWAKPKELEDLEGYQNTIVAGSLITKSNLHAMIKAEESSKQEECTTTSTAPVPTTEIPTTMSTMAAAEAAAAVVAAAAAAAAAAAAANANASTSASNTVSGTVPVVPEPEVTSIVATVVDNENTVTISTEEQAQLTSTPAIQDQSVEVSSNTGEETSKQETVADFTPKKEEEESQPAKKTYTWNTKEEAKQAFKELLKEKRVPSNASWEQAMKMIINDPRYSALAKLSEKKQAFNAYKVQTEKEEKEEARSKYKEAKESFQRFLENHEKMTSTTRYKKAEQMFGEMEVWNAISERDRLEIYEDVLFFLSKKEKEQAKQLRKRNWEALKNILDNMANVTYSTTWSEAQQYLMDNPTFAEDEELQNMDKEDALICFEEHIRALEKEEEEEKQKSLLRERRRQRKNRESFQIFLDELHEHGQLHSMSSWMELYPTISSDIRFTNMLGQPGSTALDLFKFYVEDLKARYHDEKKIIKDILKDKGFVVEVNTTFEDFVAIISSTKRSTTLDAGNIKLAFNSLLEKAEAREREREKEEARKMKRKESAFKSMLKQAAPPIELDAVWEDIRERFVKEPAFEDITLESERKRIFKDFMHVLEHECQHHHSKNKKHSKKSKKHHRKRSRSRSGSDSDDDDSHSKKKRQRSESRSASEHSSSAESERSYKKSKKHKKKSKKRRHKSDSPESDAEREKDKKEKDRESEKDRTRQRSESKHKSPKKKTGKDSGNWDTSGSELSEGELEKRRRTLLEQLDDDQ", "length": 930, "header": "sp|O75400-2|PR40A_HUMAN Isoform 2 of Pre-mRNA-processing factor 40 homolog A OS=Homo sapiens OX=9606 GN=PRPF40A PE=1 SV=2 CANONICAL=O75400-1" }, "locus": {} }, { "isoform_ac": "O75400-3", "url": "", "sequence": { "sequence": "MRPGTGAERGGLMVSEMESHPPSQGPGDGERRLSGSSLCSGSWVSADGFLRRRPSMGHPGMHYAPMGMHPMGQRANMPPVPHGMMPQMMPPMGGPPMGQMPGMMSSVMPGMMMSHMSQASMQPALPPGVNSMDVAAGTASGAKSMWTEHKSPDGRTYYYNTETKQSTWEKPDDLKTPAEQLLSKCPWKEYKSDSGKPYYYNSQTKESRWAKPKELEDLEAMIKAEESSKQEECTTTSTAPVPTTEIPTTMSTMAAAEAAAAVVAAAAAAAAAAAAANANASTSASNTVSGTVPVVPEPEVTSIVATVVDNENTVTISTEEQAQLTSTPAIQDQSVEVSSNTGEETSKQETVADFTPKKEEEESQPAKKTYTWNTKEEAKQAFKELLKEKRVPSNASWEQAMKMIINDPRYSALAKLSEKKQAFNAYKVQTEKEEKEEARSKYKEAKESFQRFLENHEKMTSTTRYKKAEQMFGEMEVWNAISERDRLEIYEDVLFFLSKKEKEQAKQLRKRNWEALKNILDNMANVTYSTTWSEAQQYLMDNPTFAEDEELQNMDKEDALICFEEHIRALEKEEEEEKQKSLLRERRRQRKNRESFQIFLDELHEHGQLHSMSSWMELYPTISSDIRFTNMLGQPGSTALDLFKFYVEDLKARYHDEKKIIKDILKDKGFVVEVNTTFEDFVAIISSTKRSTTLDAGNIKLAFNSLLEKAEAREREREKEEARKMKRKESAFKSMLKQAAPPIELDAVWEDIRERFVKEPAFEDITLESERKRIFKDFMHVLEHECQHHHSKNKKHSKKSKKHHRKRSRSRSGSDSDDDDSHSKKKRQRSESRSASEHSSSAESERSYKKSKKHKKKSKKRRHKSDSPESDAEREKDKKEKDRESEKDRTRQRSESKHKSPKKKTGKDSGNWDTSGSELSEGELEKRRRTLLEQLDDDQ", "length": 939, "header": "sp|O75400-3|PR40A_HUMAN Isoform 3 of Pre-mRNA-processing factor 40 homolog A OS=Homo sapiens OX=9606 GN=PRPF40A PE=1 SV=2 CANONICAL=O75400-1" }, "locus": {} }, { "isoform_ac": "O75400-5", "url": "", "sequence": { "sequence": "MCSGSGRRRSSLSPTMRPGTGAERGGLMMGHPGMHYAPMGMHPMGQRANMPPVPHGMMPQMMPPMGGPPMGQMPGMMSSVMPGMMMSHMSQASMQPALPLN", "length": 101, "header": "sp|O75400-5|PR40A_HUMAN Isoform 5 of Pre-mRNA-processing factor 40 homolog A OS=Homo sapiens OX=9606 GN=PRPF40A PE=1 SV=2 CANONICAL=O75400-1" }, "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": 207, "start_aa": "Ser", "end_pos": 207, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser207", "evidence": [ { "id": "O75400", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O75400" }, { "id": "27655845", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/27655845" }, { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "33214551", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33214551" }, { "id": "34725712", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34725712" }, { "id": "30397120", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30397120" }, { "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": "33465208", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33465208" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "32119511", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32119511" }, { "id": "28510447", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28510447" }, { "id": "22121020", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22121020" }, { "id": "34229054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34229054" }, { "id": "O75400", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O75400" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 709, "start_aa": "Ser", "end_pos": 709, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser709", "evidence": [ { "id": "O75400", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O75400" }, { "id": "27655845", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/27655845" }, { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "33214551", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33214551" }, { "id": "34725712", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34725712" }, { "id": "30397120", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30397120" }, { "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": "33465208", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33465208" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "32119511", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32119511" }, { "id": "28510447", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28510447" }, { "id": "22121020", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22121020" }, { "id": "34229054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34229054" }, { "id": "O75400", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O75400" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 711, "start_aa": "Thr", "end_pos": 711, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr711", "evidence": [ { "id": "O75400", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O75400" }, { "id": "33465208", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33465208" } ] } ], "phosphorylation": [ { "start_pos": 151, "end_pos": 151, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O75400", "url": "https://www.uniprot.org/uniprot/O75400" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "O75400", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75400" } ], "site_lbl": "Ser151" }, { "start_pos": 345, "end_pos": 345, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "O75400", "url": "https://www.uniprot.org/uniprot/O75400" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "O75400", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75400" } ], "site_lbl": "Thr345" }, { "start_pos": 34, "end_pos": 34, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O75400", "url": "https://www.uniprot.org/uniprot/O75400" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "phospho.ELM", "id": "O75400", "url": "http://phospho.elm.eu.org/byAccession/O75400.html" }, { "database": "iPTMnet", "id": "O75400", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75400" }, { "database": "PubMed", "id": "18220336", "url": "https://glygen.org/publication/PubMed/18220336" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ], "site_lbl": "Ser34" }, { "start_pos": 36, "end_pos": 36, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "phospho.ELM", "id": "O75400", "url": "http://phospho.elm.eu.org/byAccession/O75400.html" }, { "database": "iPTMnet", "id": "O75400", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75400" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ], "site_lbl": "Ser36" }, { "start_pos": 373, "end_pos": 373, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "O75400", "url": "https://www.uniprot.org/uniprot/O75400" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" }, { "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": 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