{ "uniprot_canonical_ac": "P04280-1", "uniprot_ac": "P04280", "uniprot_id": "PRP1_HUMAN", "mass": { "chemical_mass": 38562.0, "monoisotopic_mass": 38562.0 }, "refseq": { "ac": "NP_005030", "name": "basic salivary proline-rich protein 1 isoform 1 preproprotein", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005030" }, "gene_names": [ { "name": "PRB1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P04280", "id": "P04280" }, { "name": "PM; PMF; PMS; PRB1L; PRB1M", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005030", "id": "NP_005030" }, { "name": "PRB1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005030", "id": "NP_005030" }, { "name": "hCG_26567", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P04280", "id": "P04280" } ], "protein_names": [ { "name": "Basic salivary proline-rich protein 1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P04280" }, { "name": "Salivary proline-rich protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P04280" }, { "name": "basic salivary proline-rich protein 1 isoform 1 preproprotein", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005030", "id": "NP_005030" }, { "name": "salivary protein Pe; parotid middle band protein; BstNI type basic salivary proline-rich protein 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005030", "id": "NP_005030" } ], "function": [ { "annotation": "MP4 and Prb1 in mouse are closely related with the physiology and pathological processes of the ocular surface, and might ontribute to homeostasis of ocular surface or pathogenesis of diseases like dry eye. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_005030", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005030" }, { "database": "PubMed", "id": "27588265", "url": "https://glygen.org/publication/PubMed/27588265" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs774176071", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774176071" }, { "id": "rs774176071", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774176071" }, { "id": "rs774176071", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs774176071" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 108, "end_pos": 108, "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NQP->NQT).", "chr_id": "12", "chr_pos": "11353781", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P108", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs763820742", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763820742" }, { "id": "rs763820742", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763820742" }, { "id": "rs763820742", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs763820742" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 129, "end_pos": 129, "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NKP->NKT).", "chr_id": "12", "chr_pos": "11353718", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P129", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs764997940", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764997940" }, { "id": "rs764997940", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764997940" }, { "id": "rs764997940", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs764997940" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 150, "end_pos": 150, "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->G).", "chr_id": "12", "chr_pos": "11353655", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S150", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs764997940", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764997940" }, { "id": "rs764997940", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764997940" }, { "id": "rs764997940", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs764997940" }, { "id": "rs1484546366", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1484546366" }, { "id": "rs1484546366", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1484546366#frequency_tab" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 150, "end_pos": 150, "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->R).", "chr_id": "12", "chr_pos": "11353655", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S150", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs748523335", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748523335" }, { "id": "rs748523335", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748523335" }, { "id": "rs748523335", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs748523335" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 22, "end_pos": 22, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DVS->NVS).", "chr_id": "12", "chr_pos": "11355490", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D22", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs772221403", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772221403" }, { "id": "rs772221403", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772221403" }, { "id": "rs772221403", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs772221403#frequency_tab" }, { "id": "rs772221403", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs772221403" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 40, "end_pos": 40, "sequence_org": "S", "sequence_mut": "C", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->C).", "chr_id": "12", "chr_pos": "11353984", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S40", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs772221403", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772221403" }, { "id": "rs772221403", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772221403" }, { "id": "rs772221403", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs772221403#frequency_tab" }, { "id": "rs772221403", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs772221403" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 40, "end_pos": 40, "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->F).", "chr_id": "12", "chr_pos": "11353984", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S40", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs373764594", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs373764594" }, { "id": "rs373764594", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs373764594" }, { "id": "rs373764594", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs373764594" }, { "id": "rs373764594", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs373764594#frequency_tab" }, { "id": "rs373764594", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs373764594" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 40, "end_pos": 40, "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->P).", "chr_id": "12", "chr_pos": "11353985", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "0.001398", "site_lbl": "S40", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs772221403", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772221403" }, { "id": "rs772221403", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772221403" }, { "id": "rs772221403", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs772221403#frequency_tab" }, { "id": "rs772221403", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs772221403" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 40, "end_pos": 40, "sequence_org": "S", "sequence_mut": "Y", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->Y).", "chr_id": "12", "chr_pos": "11353984", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S40", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs755939023", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755939023" }, { "id": "rs755939023", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755939023" }, { "id": "rs755939023", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs755939023" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 47, "end_pos": 47, "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NKP->NKT).", "chr_id": "12", "chr_pos": "11353964", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P47", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs767814028", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767814028" }, { "id": "rs767814028", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767814028" }, { "id": "rs767814028", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs767814028" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 68, "end_pos": 68, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NKP->NKS).", "chr_id": "12", "chr_pos": "11353901", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P68", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs767814028", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767814028" }, { "id": "rs767814028", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767814028" }, { "id": "rs767814028", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs767814028" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 68, "end_pos": 68, "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NKP->NKT).", "chr_id": "12", "chr_pos": "11353901", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P68", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs554211998", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs554211998" }, { "id": "rs554211998", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs554211998" }, { "id": "rs554211998", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs554211998" }, { "id": "rs554211998", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs554211998#frequency_tab" }, { "id": "rs554211998", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs554211998" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 85, "end_pos": 85, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DKS->NKS).", "chr_id": "12", "chr_pos": "11353850", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.000399", "site_lbl": "D85", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs751733988", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751733988" }, { "id": "rs751733988", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751733988" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 87, "end_pos": 87, "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->F).", "chr_id": "12", "chr_pos": "11353843", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S87", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "18.51", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000251655", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000251655" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "16.41", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000251655", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000251655" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "17.43", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000251655", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000251655" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "39.66", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000251655", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000251655" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "25.43", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000251655", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000251655" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "19.03", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000251655", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000251655" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "45.2", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000251655", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000251655" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "18.66", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000251655", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000251655" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "21.41", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000251655", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000251655" } ] } ], "expression_disease": [ { "significant": "No", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P04280", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P04280" } ], "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, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "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": "P04280", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P04280" } ], "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 of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "P04280", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P04280" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "P04280", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P04280" } ], "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 kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "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 kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "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": "P04280", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P04280" } ], "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 in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast 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": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "P04280", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P04280" } ], "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": "down", "name": "Esophageal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "P04280", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P04280" } ], "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Aerodigestive tract cancer, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Escc, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "gastric cardia adenocarcinoma, susceptibility to", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Colorectal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:9256", "evidence": [ { "database": "BioXpress", "id": "P04280", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P04280" } ], "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "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": "P04280", "url": "https://www.uniprot.org/uniprot/P04280" } ], "common_name": "Human" } ], "gene": [ { "name": "PRB1", "url": "https://www.uniprot.org/uniprot/P04280", "locus": { "chromosome": "HSCHR12_5_CTG2", "start_pos": 25493, "end_pos": 20913, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000275517", "url": "https://www.ensembl.org/id/ENSG00000275517" } ] } } ], "crossref": [ { "id": "ENSG00000251655", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000251655", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "PRB1", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRB1", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "5542", "url": "https://www.ncbi.nlm.nih.gov/gene/5542", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "9337", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=9337", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "IPR026086", "url": "https://www.ebi.ac.uk/interpro/entry/IPR026086", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:5542", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:5542", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "180989", "url": "http://www.omim.org/entry/180989", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_P04280", "url": "https://www.nextprot.org/entry/NX_P04280", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "WETSTHY", "url": "https://omabrowser.org/oma/group/WETSTHY/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "PTHR23203", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR23203", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR23203:SF16", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR23203:SF16", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF15240", "url": "http://pfam.xfam.org/family/PF15240", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "P04280", "url": "https://pharos.nih.gov/targets/P04280", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_P04280", "url": "http://purl.obolibrary.org/obo/PR_P04280", "database": "PRO", "categories": [ "Protein" ] }, { "id": "NP_005030", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005030", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "A0A0D9SET1", "url": "https://www.uniprot.org/uniprot/A0A0D9SET1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0D9SET1-1", "url": "https://www.uniprot.org/uniprot/A0A0D9SET1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0G2JM13", "url": "https://www.uniprot.org/uniprot/A0A0G2JM13", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0G2JM13-1", "url": "https://www.uniprot.org/uniprot/A0A0G2JM13-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0G2JMN8", "url": "https://www.uniprot.org/uniprot/A0A0G2JMN8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0G2JMN8-1", "url": "https://www.uniprot.org/uniprot/A0A0G2JMN8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0G2JQ42", "url": "https://www.uniprot.org/uniprot/A0A0G2JQ42", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0G2JQ42-1", "url": "https://www.uniprot.org/uniprot/A0A0G2JQ42-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0G2JR74", "url": "https://www.uniprot.org/uniprot/A0A0G2JR74", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0G2JR74-1", "url": "https://www.uniprot.org/uniprot/A0A0G2JR74-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0G2JRP6", "url": "https://www.uniprot.org/uniprot/A0A0G2JRP6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0G2JRP6-1", "url": "https://www.uniprot.org/uniprot/A0A0G2JRP6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A4W8X8U3", "url": "https://www.uniprot.org/uniprot/A0A4W8X8U3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A4W8X8U3-1", "url": "https://www.uniprot.org/uniprot/A0A4W8X8U3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "G3V1M9", "url": "https://www.uniprot.org/uniprot/G3V1M9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "G3V1M9-1", "url": "https://www.uniprot.org/uniprot/G3V1M9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "G3V1R1", "url": "https://www.uniprot.org/uniprot/G3V1R1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "G3V1R1-1", "url": "https://www.uniprot.org/uniprot/G3V1R1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P04280", "url": "https://www.uniprot.org/uniprot/P04280", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P04280-1", "url": "https://www.uniprot.org/uniprot/P04280-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MLLILLSVALLALSSAQNLNEDVSQEESPSLIAGNPQGPSPQGGNKPQGPPPPPGKPQGPPPQGGNKPQGPPPPGKPQGPPPQGDKSRSPRSPPGKPQGPPPQGGNQPQGPPPPPGKPQGPPPQGGNKPQGPPPPGKPQGPPPQGDKSQSPRSPPGKPQGPPPQGGNQPQGPPPPPGKPQGPPPQGGNKPQGPPPPGKPQGPPPQGDKSQSPRSPPGKPQGPPPQGGNQPQGPPPPPGKPQGPPQQGGNRPQGPPPPGKPQGPPPQGDKSRSPQSPPGKPQGPPPQGGNQPQGPPPPPGKPQGPPPQGGNKPQGPPPPGKPQGPPAQGGSKSQSARSPPGKPQGPPQQEGNNPQGPPPPAGGNPQQPQAPPAGQPQGPPRPPQGGRPSRPPQ", "length": 392, "header": "sp|P04280-1|PRP1_HUMAN Isoform 1 of Basic salivary proline-rich protein 1 OS=Homo sapiens OX=9606 GN=PRB1 PE=1 SV=3 CANONICAL=P04280-1" }, "isoforms": [ { "isoform_ac": "A0A0D9SET1-1", "url": "", "sequence": { "sequence": "MLLILLSVALLALSSAQNLNEDVSQEESPSLIAGNPQGPSPQGGNKPQGPPPPPGKPQGPPPQGGNKPQGPPPPGKPQGPPPQGDKSRSPRSPPGKPQGPPPQGGNQPQGPPPPPGKPQGPPPQGGNRPQGPPPPGKPQGPPPQGDKSRSP", "length": 151, "header": "tr|A0A0D9SET1-1|PRP1_HUMAN Computationally mapped isoform of Basic salivary proline-rich protein 1 OS=Homo sapiens OX=9606 GN=PRB1 PE=1 SV=1 CANONICAL=P04280-1" }, "locus": { "chromosome": "12", "start_pos": 11355553, "end_pos": 11353650, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000240636.10", "url": "https://www.ensembl.org/id/ENST00000240636.10" }, { "database": "Ensembl Peptide", "id": "ENSP00000485971.1", "url": "https://www.ensembl.org/id/ENSP00000485971.1" } ] } }, { "isoform_ac": "A0A0G2JM13-1", "url": "", "sequence": { "sequence": "MLLILLSVALLALSSAQNLNEDVSQEESPSLIAGNPQGAPPQGGNKPQGPPSPPGKPQGPPPQGGNQPQGPPPPPGKPQGPPPQGGNKPQGPPPPGKPQGPPPQGDKSRSPRSPPGKPQGPPPQGGNQPQGPPPPPGKPQGPPPQGGNKPQGPPPPGKPQGPPPQGDNKSRSSRSPPGKPQGPPPQGGNQPQGPPPPPGKPQGPPPQGGNKPQGPPPPGKPQGPPPQGDNKSRSARSPPGKPQGPPPQGGNQPQGPPPPPGKPQGPPPQGGNKPQGPPPPGKPQGPPPQGGSKSRSSRSPPGKPQGPPPQGGNQPQGPPPPPGKPQGPPPQGGNKPQGPPPPGKPQGPPPQGGSKSRSARSPPGKPQGPPQQEGNNPQGPPPPAGGNPQQPQAPPAGQPQGPPRPPQGGRPSRPPQ", "length": 416, "header": "tr|A0A0G2JM13-1|PRP1_HUMAN Computationally mapped isoform of Basic salivary proline-rich protein 1 OS=Homo sapiens OX=9606 GN=PRB1 PE=1 SV=1 CANONICAL=P04280-1" }, "locus": { "chromosome": "HSCHR12_5_CTG2", "start_pos": 24204, "end_pos": 20950, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000612920.2", "url": "https://www.ensembl.org/id/ENST00000612920.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000478365.1", "url": "https://www.ensembl.org/id/ENSP00000478365.1" } ] } }, { "isoform_ac": "A0A0G2JMN8-1", "url": "", "sequence": { "sequence": "MLLILLSVALLALSSAQNLNEDVSQEESPSLIAGKPQGPPPQGGNQPQGPPPPPGKPQGPPPQGGNKPQGPPPPGKPQGPPPQGDNKSRSARSPPGKPQGPPPQGGNQPQGPPPPPGKPQGPPPQGGNKPQGPPPPGKPQGPPPQGDKSRSPRSPPGKPQGPPPQGGNQPQGPPPPPGKPQGPPPQGGNKPQGPPPPGKPQGPPPQGDNKSRSARSPPGKPQGPPPQGGNQPQGPPPPPGKPQGPPPQGGNKPQGPPPPGKPQGPPPQGGSKSRSARSPPGKPQGPPQQEGNNPQGPPPPAGGNPQQPQAPPAGQPQGPPRPPQGGRPSRPPQ", "length": 333, "header": "tr|A0A0G2JMN8-1|PRP1_HUMAN Computationally mapped isoform of Basic salivary proline-rich protein 1 OS=Homo sapiens OX=9606 GN=PRB1 PE=1 SV=1 CANONICAL=P04280-1" }, "locus": { "chromosome": "HSCHR12_5_CTG2", "start_pos": 24204, "end_pos": 20950, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000615646.4", "url": "https://www.ensembl.org/id/ENST00000615646.4" }, { "database": "Ensembl Peptide", "id": "ENSP00000479646.1", "url": "https://www.ensembl.org/id/ENSP00000479646.1" } ] } }, { "isoform_ac": "A0A0G2JQ42-1", "url": "", "sequence": { "sequence": "MLLILLSVALLALSSAQNLNEDVSQEESPSLIAGKPQGPPPQGGNQPQGPPPPPGKPQGPPPQGGNKPQGPPPPGKPQGPPPQGDKSRSPRSPPGKPQGPPPQGGKPQGPPPQGGSKSRSARSPPGKPQGPPQQEGNNPQGPPPPAGGNPQQPQAPPAGQPQGPPRPPQGGRPSRPPQ", "length": 178, "header": "tr|A0A0G2JQ42-1|PRP1_HUMAN Computationally mapped isoform of Basic salivary proline-rich protein 1 OS=Homo sapiens OX=9606 GN=PRB1 PE=1 SV=1 CANONICAL=P04280-1" }, "locus": { "chromosome": "HSCHR12_5_CTG2", "start_pos": 24204, "end_pos": 20950, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000620127.3", "url": "https://www.ensembl.org/id/ENST00000620127.3" }, { "database": "Ensembl Peptide", "id": "ENSP00000484902.2", "url": "https://www.ensembl.org/id/ENSP00000484902.2" } ] } }, { "isoform_ac": "A0A0G2JR74-1", "url": "", "sequence": { "sequence": "MLLILLSVALLALSSAQNLNEDVSQEESPSLIAGKPQGPPPQGGNQPQGPPPPPGKPQGPPPQGGNKPQGPPPPGKPQGPPPQGDKSRSPRSPPGKPQGPPPQGGNQPQGPPPPPGKPQGPPPQGGNKPQGPPPPGKPQGPPPQGDNKSRSSRSPPGKPQGPPPQGGNQPQGPPPPPGKPQGPPPQGGNKPQGPPPPGKPQGPPPQGDNKSRSARSPPGKPQGPPPQGGNQPQGPPPPPGKPQGPPPQGGNKPQGPPPPGKPQGPPPQGDKSRSPRSPPGKPQGPPPQGGNQPQGPPPPPGKPQGPPPQGGNKPQGPPPPGKPQGPPPQGDNKSRSSRSPPGKPQGPPPQGGNQPQGPPPPPGKPQGPPPQGGNKPQGPPPPGKPQGPPPQGDNKSRSARSPPGKPQGPPPQGGNQPQGPPPPPGKPQGPPPQGGNKPQGPPPPGKPQGPPPQGGSKSRSSRSPPGKPQGPPPQGGNQPQGPPPPPGKPQGPPPQGGNKPQGPPPPGKPQGPPPQGGSKSRSARSPPGKPQGPPQQEGNNPQGPPPPAGGNPQQPQAPPAGQPQGPPRPPQGGRPSRPPQ", "length": 580, "header": "tr|A0A0G2JR74-1|A0A0G2JR74_HUMAN Computationally mapped isoform of Basic salivary proline-rich protein 1 OS=Homo sapiens OX=9606 GN=PRB1 PE=1 SV=1 CANONICAL=P04280-1" }, "locus": { "chromosome": "HSCHR12_5_CTG2", "start_pos": 24204, "end_pos": 20950, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000625471.2", "url": "https://www.ensembl.org/id/ENST00000625471.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000486506.1", "url": "https://www.ensembl.org/id/ENSP00000486506.1" } ] } }, { "isoform_ac": "A0A0G2JRP6-1", "url": "", "sequence": { "sequence": "MLLILLSVALLALSSAQNLNEDVSQEESPSLIAGKPQGPPPQGGNQPQGPPPPPGKPQGPPPQGGNKPQGPPPPGKPQGPPPQGDKSRSPRSPPGKPQGPPPQGGKPQGPPPQGGNKPQGPPPPGKPQGPPPQGGSKSRSARSPPGKPQGPPQQEGNNPQGPPPPAGGNPQQPQAPPAGQPQGPPRPPQGGRPSRPPQ", "length": 198, "header": "tr|A0A0G2JRP6-1|A0A0G2JRP6_HUMAN Computationally mapped isoform of Basic salivary proline-rich protein 1 OS=Homo sapiens OX=9606 GN=PRB1 PE=1 SV=1 CANONICAL=P04280-1" }, "locus": { "chromosome": "HSCHR12_5_CTG2", "start_pos": 24204, "end_pos": 20950, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000628976.2", "url": "https://www.ensembl.org/id/ENST00000628976.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000486960.1", "url": "https://www.ensembl.org/id/ENSP00000486960.1" } ] } }, { "isoform_ac": "A0A4W8X8U3-1", "url": "", "sequence": { "sequence": "MLLILLSVALLALSSAQNLNEDVSQEESPSLIAGNPQGPSPQGGNKPQGPPPPPGKPQGPPPQGGNKPQGPPPPGKPQGPPPQGDKSRSPRSPPGKPQGPPPQGGKPQGPPPQGGNKPQGPPPPGKPQGPPAQGGSKSQSARSPPGKPQGPPQQEGNNPQGPPPPAGGNPQQPQAPPAGQPQGPPRPPQGGRPSRPPQ", "length": 198, "header": "tr|A0A4W8X8U3-1|PRP1_HUMAN Computationally mapped isoform of Basic salivary proline-rich protein 1 OS=Homo sapiens OX=9606 GN=PRB1 PE=1 SV=1 CANONICAL=P04280-1" }, "locus": { "chromosome": "12", "start_pos": 11355553, "end_pos": 11353110, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000500254.6", "url": "https://www.ensembl.org/id/ENST00000500254.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000420826.2", "url": "https://www.ensembl.org/id/ENSP00000420826.2" } ] } }, { "isoform_ac": "G3V1M9-1", "url": "", "sequence": { "sequence": "MLLILLSVALLALSSAQNLNEDVSQEESPSLIAGNPQGPSPQGGNKPQGPPPPPGKPQGPPPQGGNKPQGPPPPGKPQGPPPQGDKSRSPRSPPGKPQGPPPQGGNQPQGPPPPPGKPQGPPPQGGNRPQGPPPPGKPQGPPPQGDKSRSPSPPGKPQGPPPQGGNQPQGPPPPPGKPQGPPPQGGKKPQGPPPPGKPQGPPPQGDKSRSSQSPPGKPQGPPPQGGNQPQGPPPPPGKPQGPPPQGGNKPQGPPPPGKPQGPPAQGGSKSQSARSPPGKPQGPPQQEGNNPQGPPPPAGGNPQQPQAPPAGQPQGPPRPPQGGRPSRPPQ", "length": 330, "header": "tr|G3V1M9-1|G3V1M9_HUMAN Computationally mapped isoform of Basic salivary proline-rich protein 1 OS=Homo sapiens OX=9606 GN=PRB1 PE=4 SV=2 CANONICAL=P04280-1" }, "locus": { "chromosome": "HSCHR12_3_CTG2", "start_pos": 550516, "end_pos": 548073, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000622081.2", "url": "https://www.ensembl.org/id/ENST00000622081.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000479599.1", "url": "https://www.ensembl.org/id/ENSP00000479599.1" } ] } }, { "isoform_ac": "G3V1R1-1", "url": "", "sequence": { "sequence": "MLLILLSVALLALSSAQNLNEDVSQEESPSLIAGNPQGPSPQGGNKPQGPPPPPGKPQGPPPQGGNKPQGPPPPGKPQGPPPQGDKSRSPRSPPGKPQGPPPQGGKPQGPPAQGGSKSQSARSPPGKPQGPPQQEGNNPQGPPPPAGGNPQQPQAPPAGQPQGPPRPPQGGRPSRPPQ", "length": 178, "header": "tr|G3V1R1-1|PRP1_HUMAN Computationally mapped isoform of Basic salivary proline-rich protein 1 OS=Homo sapiens OX=9606 GN=PRB1 PE=1 SV=1 CANONICAL=P04280-1" }, "locus": { "chromosome": "HSCHR12_3_CTG2", "start_pos": 550516, "end_pos": 548073, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000632933.1", "url": "https://www.ensembl.org/id/ENST00000632933.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000487691.1", "url": "https://www.ensembl.org/id/ENSP00000487691.1" } ] } }, { "isoform_ac": "P04280-1", "url": "", "sequence": { "sequence": "MLLILLSVALLALSSAQNLNEDVSQEESPSLIAGNPQGPSPQGGNKPQGPPPPPGKPQGPPPQGGNKPQGPPPPGKPQGPPPQGDKSRSPRSPPGKPQGPPPQGGNQPQGPPPPPGKPQGPPPQGGNKPQGPPPPGKPQGPPPQGDKSQSPRSPPGKPQGPPPQGGNQPQGPPPPPGKPQGPPPQGGNKPQGPPPPGKPQGPPPQGDKSQSPRSPPGKPQGPPPQGGNQPQGPPPPPGKPQGPPQQGGNRPQGPPPPGKPQGPPPQGDKSRSPQSPPGKPQGPPPQGGNQPQGPPPPPGKPQGPPPQGGNKPQGPPPPGKPQGPPAQGGSKSQSARSPPGKPQGPPQQEGNNPQGPPPPAGGNPQQPQAPPAGQPQGPPRPPQGGRPSRPPQ", "length": 392, "header": "sp|P04280-1|PRP1_HUMAN Isoform 1 of Basic salivary proline-rich protein 1 OS=Homo sapiens OX=9606 GN=PRB1 PE=1 SV=3 CANONICAL=P04280-1" }, "locus": {} } ], "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "Other", "site_category": "reported", "site_seq": "S", "relation": "attached", "comment": "O-linked (Hex) serine; alternate Other", "start_pos": 150, "start_aa": "Ser", "end_pos": 150, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser150", "evidence": [ { "id": "P04280", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P04280#ptm_processing" }, { "id": "20879038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/20879038" } ] }, { "glytoucan_ac": "", "type": "O-linked", "subtype": "Other", "site_category": "predicted", "site_seq": "S", "relation": "attached", "comment": "O-linked (HexNAc...) serine Other", "start_pos": 330, "start_aa": "Ser", "end_pos": 330, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser330", "evidence": [ { "id": "P04280", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P04280#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "O-linked", "subtype": "Other", "site_category": "reported", "site_seq": "S", "relation": "attached", "comment": "O-linked (Hex) serine; alternate Other", "start_pos": 40, "start_aa": "Ser", "end_pos": 40, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser40", "evidence": [ { "id": "P04280", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P04280#ptm_processing" }, { "id": "20879038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/20879038" } ] }, { "glytoucan_ac": "", "type": "O-linked", "subtype": "Other", "site_category": "reported", "site_seq": "S", "relation": "attached", "comment": "O-linked (HexNAc...) serine Other", "start_pos": 87, "start_aa": "Ser", "end_pos": 87, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser87", "evidence": [ { "id": "P04280", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P04280#ptm_processing" }, { "id": "20879038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/20879038" } ] } ], "phosphorylation": [ { "start_pos": 150, "end_pos": 150, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine; alternate", "evidence": [ { "database": "UniProtKB", "id": "P04280", "url": "https://www.uniprot.org/uniprot/P04280" }, { "database": "iPTMnet", "id": "P04280", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04280" }, { "database": "PubMed", "id": "20879038", "url": "https://glygen.org/publication/PubMed/20879038" } ], "site_lbl": "Ser150" }, { "start_pos": 40, "end_pos": 40, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine; alternate", "evidence": [ { "database": "UniProtKB", "id": "P04280", "url": "https://www.uniprot.org/uniprot/P04280" }, { "database": "iPTMnet", "id": "P04280", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04280" }, { "database": "PubMed", "id": "20879038", "url": "https://glygen.org/publication/PubMed/20879038" } ], "site_lbl": "Ser40" }, { "start_pos": 92, "end_pos": 92, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P04280", "url": "https://www.uniprot.org/uniprot/P04280" }, { "database": "PubMed", "id": "20879038", "url": "https://glygen.org/publication/PubMed/20879038" }, { "database": "iPTMnet", "id": "P04280", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04280" } ], "site_lbl": "Ser92" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported", "glycoprotein_predicted" ], "publication": [ { "title": "Identification of Lys-Pro-Gln as a novel cleavage site specificity of saliva-associated proteases.", "journal": "The Journal of biological chemistry", "date": "2008", "authors": "Helmerhorst EJ, Sun X, Salih E, Oppenheim FG", "evidence": [ { "database": "UniProtKB", "id": "P04280", "url": "https://www.uniprot.org/uniprot/P04280" } ], "reference": [ { "type": "PubMed", "id": "18463091", "url": "https://glygen.org/publication/PubMed/18463091" } ] }, { "title": "Basic proline-rich proteins from human parotid saliva: relationships of the covalent structures of ten proteins from a single individual.", "journal": "Biochemistry", "date": "1991", "authors": "Kauffman DL, Bennick A, Blum M, Keller PJ", "evidence": [ { "database": "UniProtKB", "id": "P04280", "url": "https://www.uniprot.org/uniprot/P04280" } ], "reference": [ { "type": "PubMed", "id": "1849422", "url": "https://glygen.org/publication/PubMed/1849422" } ] }, { "title": "Finding new posttranslational modifications in salivary proline-rich proteins.", "journal": "Proteomics", "date": "2010", "authors": "Vitorino R, Alves R, Barros A, Caseiro A, Ferreira R, Lobo MC, Bastos A, Duarte J, Carvalho D, Santos LL, Amado FL", "evidence": [ { "database": "UniProtKB", "id": "P04280", "url": "https://www.uniprot.org/uniprot/P04280#ptm_processing" }, { "database": "UniProtKB", "id": "P04280", "url": "https://www.uniprot.org/uniprot/P04280" }, { "database": "iPTMnet", "id": "P04280", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04280" } ], "reference": [ { "type": "PubMed", "id": "20879038", "url": "https://glygen.org/publication/PubMed/20879038" } ] }, { "title": "The involvement of proline-rich protein Mus musculus predicted gene 4736 in ocular surface functions.", "journal": "International journal of ophthalmology", "date": "2016", "authors": "Qi X, Ren SW, Zhang F, Wang YQ", "evidence": [ { "database": "RefSeq", "id": "NP_005030", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005030" } ], "reference": [ { "type": "PubMed", "id": "27588265", "url": "https://glygen.org/publication/PubMed/27588265" } ] }, { "title": "Length polymorphisms in human proline-rich protein genes generated by intragenic unequal crossing over.", "journal": "Genetics", "date": "1988", "authors": "Lyons KM, Stein JH, Smithies O", "evidence": [ { "database": "UniProtKB", "id": "P04280", "url": "https://www.uniprot.org/uniprot/P04280" } ], "reference": [ { "type": "PubMed", "id": "2851479", "url": "https://glygen.org/publication/PubMed/2851479" } ] }, { "title": "Differential RNA splicing and post-translational cleavages in the human salivary proline-rich protein gene system.", "journal": "J. Biol. Chem.", "date": "1985", "authors": "Maeda N, Kim HS, Azen EA, Smithies O", "evidence": [ { "database": "UniProtKB", "id": "P04280", "url": "https://www.uniprot.org/uniprot/P04280" } ], "reference": [ { "type": "PubMed", "id": "2993301", "url": "https://glygen.org/publication/PubMed/2993301" } ] }, { "title": "Basic proline-rich proteins from human parotid saliva: complete covalent structures of proteins IB-1 and IB-6.", "journal": "Biochemistry", "date": "1986", "authors": "Kauffman D, Hofmann T, Bennick A, Keller P", "evidence": [ { "database": "UniProtKB", "id": "P04280", "url": "https://www.uniprot.org/uniprot/P04280" } ], "reference": [ { "type": "PubMed", "id": "3521730", "url": "https://glygen.org/publication/PubMed/3521730" } ] }, { "title": "Clones from the human gene complex coding for salivary proline-rich proteins.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "1984", "authors": "Azen E, Lyons K M, McGonigal T, Barrett N L, Clements L S, Maeda N, Vanin E F, Carlson D M, Smithies O", "evidence": [ { "database": "UniProtKB", "id": "P04280", "url": "https://www.uniprot.org/uniprot/P04280" } ], "reference": [ { "type": "PubMed", "id": "6089212", "url": "https://glygen.org/publication/PubMed/6089212" } ] }, { "title": "Further fractionation of basic proline-rich peptides from human parotid saliva and complete amino acid sequence of basic proline-rich peptide P-H.", "journal": "J. Biochem.", "date": "1983", "authors": "Saitoh E, Isemura S, Sanada K", "evidence": [ { "database": "UniProtKB", "id": "P04280", "url": "https://www.uniprot.org/uniprot/P04280" } ], "reference": [ { "type": "PubMed", "id": "6671974", "url": "https://glygen.org/publication/PubMed/6671974" } ] }, { "title": "PRBI gene variants coding for length and null polymorphisms among human salivary Ps, PmF, PmS, and Pe proline-rich proteins (PRPs).", "journal": "Am. J. Hum. Genet.", "date": "1993", "authors": "Azen E A, Latreille P, Niece R L", "evidence": [ { "database": "UniProtKB", "id": "P04280", "url": "https://www.uniprot.org/uniprot/P04280" } ], "reference": [ { "type": "PubMed", "id": "8317492", "url": "https://glygen.org/publication/PubMed/8317492" } ] }, { "title": "The structure and evolution of the human salivary proline-rich protein gene family.", "journal": "Mamm. Genome", "date": "1993", "authors": "Kim HS, Lyons KM, Saitoh E, Azen EA, Smithies O, Maeda N", "evidence": [ { "database": "UniProtKB", "id": "P04280", "url": "https://www.uniprot.org/uniprot/P04280" } ], "reference": [ { "type": "PubMed", "id": "8422499", "url": "https://glygen.org/publication/PubMed/8422499" } ] } ], "pathway": [ { "id": "hsa:5542", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:5542", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "E9PXN1-1", "protein_name": "Proline-rich protein MP5", "gene_name": "Prb1b", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MLVVLLTAALLVLSSAQRQDEEITYEDSNSQLLEMGEQSQGYGHHFPKPPPGGMPPRPPSSDENDDGDEDGSEEDVNRPEEPPQHPPHPGHHHGPPPQGGPQQRPPQPGKQQGPPPQGGPQSPLRPGNQQGPPPQGGPQQRPPQPGNQQGPPLQGGPQGPLRPGNHEGPPPQGGPQGHPRPGNQQGPPPQGGLQRPPQPGNQQGPPPQRGPQQRPPQPGNQQGPPPQGGPQQRPPQPGNQQGPPPPGSPQGPPRPGNQQGPPPQGGPQRPPQPRNHQGPPQYGNNEQPSYLWSLFA", "length": 296 }, "evidence": [ { "id": "45935857", "url": "http://www.informatics.jax.org/homology/45935857", "database": "MGI" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "E9Q7E4-1", "protein_name": "Predicted gene 8882", "gene_name": "Prb1c", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MLVILLTAALLVLSSAQREDEEITYEDSNSQLLEMGEQSQGYGHHFPKPPPGGMPPRPPSSDENDDGDEDGSEEDVNRPERPPQHPPHSGHHHGPPPQGDAQGPPRPGNQQGPPPPGPPPQGSSQQRSPQPGNQQGPPPQGGPQQRPPQPGNQQGPPPQGGPQQRPPQPGNQQGPPPQGGPQGPPRPGNQQGPPPQGGPQQRPTQPGNQQGPPQQGGPQGPPRPGNQQGPPPQGGPQGPPRPGNQQGPPPQGGPQRPPQPRNHQGPPQHGNNEQPSYLWSLFA", "length": 283 }, "evidence": [ { "id": "45935859", "url": "http://www.informatics.jax.org/homology/45935859", "database": "MGI" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "P02812-1", "protein_name": "Basic salivary proline-rich protein 2", "gene_name": "PRB2", "tax_id": 9606, "organism": "Homo sapiens", "sequence": { "sequence": "MLLILLSVALLALSSAQNLNEDVSQEESPSLIAGNPQGAPPQGGNKPQGPPSPPGKPQGPPPQGGNQPQGPPPPPGKPQGPPPQGGNKPQGPPPPGKPQGPPPQGDKSRSPRSPPGKPQGPPPQGGNQPQGPPPPPGKPQGPPPQGGNKPQGPPPPGKPQGPPPQGDNKSRSSRSPPGKPQGPPPQGGNQPQGPPPPPGKPQGPPPQGGNKPQGPPPPGKPQGPPPQGDNKSQSARSPPGKPQGPPPQGGNQPQGPPPPPGKPQGPPPQGGNKPQGPPPPGKPQGPPPQGGSKSRSSRSPPGKPQGPPPQGGNQPQGPPPPPGKPQGPPPQGGNKPQGPPPPGKPQGPPPQGGSKSRSARSPPGKPQGPPQQEGNNPQGPPPPAGGNPQQPQAPPAGQPQGPPRPPQGGRPSRPPQ", "length": 416 }, "evidence": [ { "id": "45935859", "url": "http://www.informatics.jax.org/homology/45935859", "database": "MGI" }, { "id": "45935858", "url": "http://www.informatics.jax.org/homology/45935858", "database": "MGI" }, { "id": "45935856", "url": "http://www.informatics.jax.org/homology/45935856", "database": "MGI" }, { "id": "45935857", "url": "http://www.informatics.jax.org/homology/45935857", "database": "MGI" } ], "common_name": "Human" }, { "uniprot_canonical_ac": "P05142-1", "protein_name": "Proline-rich protein HaeIII subfamily 1", "gene_name": "Prh1", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MLVVLFTVALLALSSAQGPREENQNQIQIPNQRPPPSGFQPRPPVNGSQQGPPPPGGPQPRPPQGPPPPGGPQPRPPQGPPPPGGPQPRPPQGPPPPGGPQQRPPQGPPPPGGPQQRPPQGPPPPGGPQPRPPQGPPPPGGPQLRPPQGPPPPAGPQPRPPQGPPPPAGPQPRPPQGPPPTGPQPRPTQGPPPTGGPQQRPPQGPPPPGGPQPRPPQGPPPPGGPQPSPTQGPPPTGGPQQTPPLAGNTQGPPQGRPQGPR", "length": 261 }, "evidence": [ { "id": "45935856", "url": "http://www.informatics.jax.org/homology/45935856", "database": "MGI" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "P05143-1", "protein_name": "Proline-rich protein 2", "gene_name": "Prp2", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MLVVLFTVALLALSSAQGPREELQNQIQIPNQRPPPSGSQPRPPVNGSQQGPPPPGGPQPRPPQGPPPPGGPQPRPPQGPPPPGGPQPRPPQGPPPPGGPQPRPPQGPPPPGGPQPRPPQGPPPPGGPQPRPPQGPPPPGGPQQRPPQGPPPPGGPQPRPPQGPPPPAGPQPRPPQGPPPPAGPHLRPTQGPPPTGGPQQRYPQSPPPPGGPQPRPPQGPPPPGGPHPRPTQGPPPTGPQPRPTQGPPPTGGPQQRPPQGPPPPGGPQPRPPQGPPPPTGPQPRPTQGPHPTGGPQQTPPLAGNPQGPPQGRPQGPQ", "length": 317 }, "evidence": [ { "id": "45935858", "url": "http://www.informatics.jax.org/homology/45935858", "database": "MGI" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "P10163-1", "protein_name": "Basic salivary proline-rich protein 4", "gene_name": "PRB4", "tax_id": 9606, "organism": "Homo sapiens", "sequence": { "sequence": "MLLILLSVALLALSSAESSSEDVSQEESLFLISGKPEGRRPQGGNQPQRPPPPPGKPQGPPPQGGNQSQGPPPPPGKPEGRPPQGGNQSQGPPPHPGKPERPPPQGGNQSQGPPPHPGKPESRPPQGGHQSQGPPPTPGKPEGPPPQGGNQSQGTPPPPGKPEGRPPQGGNQSQGPPPHPGKPERPPPQGGNQSHRPPPPPGKPERPPPQGGNQSQGPPPHPGKPEGPPPQEGNKSRSARSPPGKPQGPPQQEGNKPQGPPPPGKPQGPPPAGGNPQQPQAPPAGKPQGPPPPPQGGRPPRPAQGQQPPQ", "length": 310 }, "evidence": [ { "id": "45935859", "url": "http://www.informatics.jax.org/homology/45935859", "database": "MGI" }, { "id": "45935858", "url": "http://www.informatics.jax.org/homology/45935858", "database": "MGI" }, { "id": "45935856", "url": "http://www.informatics.jax.org/homology/45935856", "database": "MGI" }, { "id": "45935857", "url": "http://www.informatics.jax.org/homology/45935857", "database": "MGI" } ], "common_name": "Human" }, { "uniprot_canonical_ac": "P10165-1", "protein_name": "Proline-rich proteoglycan 2", "gene_name": "Prpg2", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MLVVLLTAALLVLSSAQGVDEEVVYEDSSQQLELEQQSQGHGQHHPKPPPGGLPPRPPASDENGDGDDNDDGDDDGSGDDVNRPERPPQHGGNHHHPHHPPPAAGPQRPPQPGSPQGPPPPGGPQQRPPQGPPPQGGPQRPPQPGSPQGPPPPGGPQQRPPQGPPPQGGPQRPPQPGSPQGPPPPGGPQQRAPQGPPPQGGPQRPPQPGSPQGPPPPGGPQQRPPQGPPPQGGPQRPPQPGSPQGPPPPGGPQQRPPQGPPPQGGPQRPPQPGNPQGPPQQGGQQQSSFLWSFSA", "length": 295 }, "evidence": [ { "id": "45935859", "url": "http://www.informatics.jax.org/homology/45935859", "database": "MGI" }, { "id": "45935857", "url": "http://www.informatics.jax.org/homology/45935857", "database": "MGI" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q04118-1", "protein_name": "Basic salivary proline-rich protein 3", "gene_name": "PRB3", "tax_id": 9606, "organism": "Homo sapiens", "sequence": { "sequence": "MLLILLSVALLALSSAQSLNEDVSQEESPSVISGKPEGRRPQGGNQPQRTPPPPGKPEGRPPQGGNQSQGPPPRPGKPEGPPPQGGNQSQGPPPRPGKPEGQPPQGGNQSQGPPPRPGKPEGPPPQGGNQSQGPPPRPGKPEGPPPQGGNQSQGPPPRPGKPEGPPPQGGNQSQGPPPHPGKPEGPPPQGGNQSQGPPPRPGKPEGPPPQGGNQSQGPPPRPGKPEGPPPQGGNKPQGPPPRPGKPEGPPPQGGNQSQGPPPRPGKPEGPPSQGGNKPQGPPPHPGKPQGPPPQEGNKPQRPPPPGRPQGPPPPGGNPQQPLPPPAGKPQGPPPPPQGGRPHRPPQGQPPQ", "length": 351 }, "evidence": [ { "id": "45935859", "url": "http://www.informatics.jax.org/homology/45935859", "database": "MGI" }, { "id": "45935858", "url": "http://www.informatics.jax.org/homology/45935858", "database": "MGI" }, { "id": "45935856", "url": "http://www.informatics.jax.org/homology/45935856", "database": "MGI" }, { "id": "45935857", "url": "http://www.informatics.jax.org/homology/45935857", "database": "MGI" } ], "common_name": "Human" }, { "uniprot_canonical_ac": "Q16378-1", "protein_name": "Proline-rich protein 4", "gene_name": "PRR4", "tax_id": 9606, "organism": "Homo sapiens", "sequence": { "sequence": "MLLVLLSVVLLALSSAQSTDNDVNYEDFTFTIPDVEDSSQRPDQGPQRPPPEGLLPRPPGDSGNQDDGPQQRPPKPGGHHRHPPPPPFQNQQRPPRRGHRQLSLPRFPSVSLQEASSFFQRDRPARHPQEQPLW", "length": 134 }, "evidence": [ { "id": "45935859", "url": "http://www.informatics.jax.org/homology/45935859", "database": "MGI" }, { "id": "45935857", "url": "http://www.informatics.jax.org/homology/45935857", "database": "MGI" } ], "common_name": "Human" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 1, "go_terms": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "P04280", "url": "https://www.uniprot.org/uniprot/P04280" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [], "ptm_annotation": [ { "annotation": "O-glycosylated. O-glycosylation on Ser-87 is prevalent in head and neck cancer patients. O-Glycosylation on Ser-330 has a 5 times prevalence in head and neck cancers.", "evidence": [ { "database": "UniProtKB", "id": "P04280", "url": "https://www.uniprot.org/uniprot/P04280" }, { "database": "PubMed", "id": "20879038", "url": "https://glygen.org/publication/PubMed/20879038" } ] }, { "annotation": "Proteolytically cleaved at the tripeptide Xaa-Pro-Gln, where Xaa in the P(3) position is mostly lysine. The endoprotease may be of microbial origin.", "evidence": [ { "database": "UniProtKB", "id": "P04280", "url": "https://www.uniprot.org/uniprot/P04280" }, { "database": "PubMed", "id": "18463091", "url": "https://glygen.org/publication/PubMed/18463091" } ] }, { "annotation": "Pyroglutamate formation occurs on terminal Gln residues of cleaved peptides. Besides on the N-terminal of mature PBR1, pyroglutamate formation found on at least Gln-58.", "evidence": [ { "database": "UniProtKB", "id": "P04280", "url": "https://www.uniprot.org/uniprot/P04280" }, { "database": "PubMed", "id": "18463091", "url": "https://glygen.org/publication/PubMed/18463091" } ] } ], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" } ], "sequence_features": { "n_linked_sites": [], "o_linked_sites": [ 40, 87, 150, 330 ], "snv_sites": [ 22, 40, 47, 68, 85, 87, 108, 129, 150 ], "glycation_sites": [], "phosphorylation_sites": [ 40, 92, 150 ], "sequon_annotation_sites": [] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 4 }, { "field": "total_sites", "count": 4 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 4 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 3 }, { "field": "total_sites", "count": 3 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 3 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 3 }, { "field": "total_sites", "count": 3 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 14 }, { "field": "total_sites", "count": 9 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 14 }, { "field": "total_sites", "count": 9 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 11 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }