{ "uniprot_canonical_ac": "A6ND01-1", "uniprot_ac": "A6ND01", "uniprot_id": "JUNO_HUMAN", "mass": { "chemical_mass": 28672.0, "monoisotopic_mass": 28672.0 }, "refseq": { "ac": "NP_001186135", "name": "sperm-egg fusion protein Juno precursor", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186135" }, "gene_names": [ { "name": "IZUMO1R", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/A6ND01", "id": "A6ND01" }, { "name": "FOLR4", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A6ND01", "id": "A6ND01" }, { "name": "Folbp3; FOLR4; FR-delta; JUNO", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186135", "id": "NP_001186135" }, { "name": "IZUMO1R", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186135", "id": "NP_001186135" }, { "name": "JUNO", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A6ND01", "id": "A6ND01" } ], "protein_names": [ { "name": "Sperm-egg fusion protein Juno", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "A6ND01" }, { "name": "FR-delta", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "A6ND01" }, { "name": "Folate receptor 4", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "A6ND01" }, { "name": "Folate receptor delta", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "A6ND01" }, { "name": "IZUMO1 receptor protein JUNO", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "A6ND01" }, { "name": "probable folate receptor delta; folate receptor 4 (delta) homolog; sperm-egg fusion protein Juno; folate receptor 4, delta (putative); IZUMO1 receptor protein JUNO; IZUMO1 receptor, JUNO, FR-delta", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186135", "id": "NP_001186135" }, { "name": "sperm-egg fusion protein Juno precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186135", "id": "NP_001186135" } ], "function": [ { "annotation": "Crystal structures of human IZUMO1 and JUNO in unbound and bound conformations", "evidence": [ { "database": "RefSeq", "id": "NP_001186135", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186135" }, { "database": "PubMed", "id": "27309818", "url": "https://glygen.org/publication/PubMed/27309818" } ] }, { "annotation": "Crystal structures of human IZUMO1, JUNO and the IZUMO1-JUNO complex, establishing the structural basis for the IZUMO1-JUNO-mediated sperm-oocyte interaction", "evidence": [ { "database": "RefSeq", "id": "NP_001186135", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186135" }, { "database": "PubMed", "id": "27309808", "url": "https://glygen.org/publication/PubMed/27309808" } ] }, { "annotation": "Genetic diversity in the IZUMO1-JUNO protein-receptor pair involved in human reproduction. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001186135", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186135" }, { "database": "PubMed", "id": "34879103", "url": "https://glygen.org/publication/PubMed/34879103" } ] }, { "annotation": "JUNO interacts with IZUMO1 during sperm binding. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001186135", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186135" }, { "database": "PubMed", "id": "27416963", "url": "https://glygen.org/publication/PubMed/27416963" } ] }, { "annotation": "Juno single nucleotide polymorphisms associated with fertilization failure and polyspermy after in vitro fertilization in women.", "evidence": [ { "database": "RefSeq", "id": "NP_001186135", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186135" }, { "database": "PubMed", "id": "29243140", "url": "https://glygen.org/publication/PubMed/29243140" } ] }, { "annotation": "Receptor for IZUMO1 present at the cell surface of oocytes (oolemma), which is essential for species-specific gamete recognition and fertilization. The IZUMO1:IZUMO1R/JUNO interaction is a necessary adhesion event between sperm and egg that is required for fertilization but is not sufficient for cell fusion. The ligand-receptor interaction probably does not act as a membrane 'fusogen'. Does not bind folate.", "evidence": [ { "database": "UniProtKB", "id": "A6ND01", "url": "https://www.uniprot.org/uniprot/A6ND01#function" }, { "database": "UniProtKB", "id": "Q9EQF4", "url": "https://www.uniprot.org/uniprot/Q9EQF4#function" } ] }, { "annotation": "Study revealed a progressive expression of JUNO according to oocyte maturity and showed that human zona-free oocytes, inseminated in the presence of anti-hJUNO mAb, were not fertilized by human sperm.", "evidence": [ { "database": "RefSeq", "id": "NP_001186135", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186135" }, { "database": "PubMed", "id": "30517645", "url": "https://glygen.org/publication/PubMed/30517645" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs1450089663", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1450089663" }, { "id": "rs1450089663", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1450089663" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 130, "end_pos": 130, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NVP->NVS).", "chr_id": "11", "chr_pos": "94307204", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P130", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1370415686", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1370415686" }, { "id": "rs1370415686", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1370415686" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 158, "end_pos": 158, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DWS->NWS).", "chr_id": "11", "chr_pos": "94307288", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D158", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1182327572", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1182327572" }, { "id": "rs1182327572", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1182327572" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 73, "end_pos": 73, "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NFS->DFS).", "chr_id": "11", "chr_pos": "94306591", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N73", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [ { "start_pos": 163, "end_pos": 163, "sequence_org": "K", "sequence_mut": "E", "comment": "Mildly decreases interaction with IZUMO1.", "evidence": [ { "database": "UniProtKB", "id": "A6ND01", "url": "https://www.uniprot.org/uniprot/A6ND01" }, { "database": "PubMed", "id": "27309818", "url": "https://glygen.org/publication/PubMed/27309818" } ] }, { "start_pos": 45, "end_pos": 45, "sequence_org": "E", "sequence_mut": "A", "comment": "Nearly abolishes interaction with IZUMO1.", "evidence": [ { "database": "UniProtKB", "id": "A6ND01", "url": "https://www.uniprot.org/uniprot/A6ND01" }, { "database": "PubMed", "id": "27309818", "url": "https://glygen.org/publication/PubMed/27309818" } ] }, { "start_pos": 45, "end_pos": 45, "sequence_org": "E", "sequence_mut": "K", "comment": "Abolishes interaction with IZUMO1.", "evidence": [ { "database": "UniProtKB", "id": "A6ND01", "url": "https://www.uniprot.org/uniprot/A6ND01" }, { "database": "PubMed", "id": "27309818", "url": "https://glygen.org/publication/PubMed/27309818" } ] }, { "start_pos": 62, "end_pos": 62, "sequence_org": "W", "sequence_mut": "A", "comment": "Nearly abolishes interaction with IZUMO1.", "evidence": [ { "database": "UniProtKB", "id": "A6ND01", "url": "https://www.uniprot.org/uniprot/A6ND01" }, { "database": "PubMed", "id": "27309808", "url": "https://glygen.org/publication/PubMed/27309808" }, { "database": "PubMed", "id": "27309818", "url": "https://glygen.org/publication/PubMed/27309818" } ] }, { "start_pos": 81, "end_pos": 81, "sequence_org": "L", "sequence_mut": "A", "comment": "Abolishes interaction with IZUMO1.", "evidence": [ { "database": "UniProtKB", "id": "A6ND01", "url": "https://www.uniprot.org/uniprot/A6ND01" }, { "database": "PubMed", "id": "27309808", "url": "https://glygen.org/publication/PubMed/27309808" }, { "database": "PubMed", "id": "27309818", "url": "https://glygen.org/publication/PubMed/27309818" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "40.35", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000183560", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000183560" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "16.41", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000183560", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000183560" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "17.43", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000183560", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000183560" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "46.64", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000183560", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000183560" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "23.4", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000183560", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000183560" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "42.42", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000183560", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000183560" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "26.35", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000183560", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000183560" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "28.1", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000183560", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000183560" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "21.65", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000183560", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000183560" } ] } ], "expression_disease": [ { "significant": "No", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "A6ND01", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A6ND01" } ], "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": "A6ND01", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A6ND01" } ], "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": "No", "trend": "down", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "A6ND01", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A6ND01" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary 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"https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "A6ND01", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A6ND01" } ], "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": "A6ND01", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A6ND01" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine 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"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 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"MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "A6ND01", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A6ND01" } ], "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": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "A6ND01", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A6ND01" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "A6ND01", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A6ND01" } ], "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": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "A6ND01", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A6ND01" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ] } ] }, { "significant": "No", "trend": "down", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "A6ND01", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A6ND01" } ], "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ] }, { "significant": "No", "trend": "up", "name": "Esophageal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "A6ND01", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A6ND01" } ], "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 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"categories": [ "3D Structure" ] }, { "id": "5JKB", "url": "https://www.rcsb.org/structure/5JKB", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5JKC", "url": "https://www.rcsb.org/structure/5JKC", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5JKD", "url": "https://www.rcsb.org/structure/5JKD", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5JKE", "url": "https://www.rcsb.org/structure/5JKE", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF03024", "url": "http://pfam.xfam.org/family/PF03024", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "A6ND01", "url": "https://pharos.nih.gov/targets/A6ND01", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_A6ND01", "url": "http://purl.obolibrary.org/obo/PR_A6ND01", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-163125", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-163125", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_001186135", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186135", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "A6ND01", "url": "https://www.uniprot.org/uniprot/A6ND01", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A6ND01-1", "url": "https://www.uniprot.org/uniprot/A6ND01-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A6ND01-2", "url": "https://www.uniprot.org/uniprot/A6ND01-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MACWWPLLLELWTVMPTWAGDELLNICMNAKHHKRVPSPEDKLYEECIPWKDNACCTLTTSWEAHLDVSPLYNFSLFHCGLLMPGCRKHFIQAICFYECSPNLGPWIQPVGSLGWEVAPSGQGERVVNVPLCQEDCEEWWEDCRMSYTCKSNWRGGWDWSQGKNRCPKGAQCLPFSHYFPTPADLCEKTWSNSFKASPERRNSGRCLQKWFEPAQGNPNVAVARLFASSAPSWELSYTIMVCSLFLPFLS", "length": 250, "header": "sp|A6ND01-1|JUNO_HUMAN Isoform 1 of Sperm-egg fusion protein Juno OS=Homo sapiens OX=9606 GN=IZUMO1R PE=1 SV=3 CANONICAL=A6ND01-1" }, "isoforms": [ { "isoform_ac": "A6ND01-1", "url": "", "sequence": { "sequence": "MACWWPLLLELWTVMPTWAGDELLNICMNAKHHKRVPSPEDKLYEECIPWKDNACCTLTTSWEAHLDVSPLYNFSLFHCGLLMPGCRKHFIQAICFYECSPNLGPWIQPVGSLGWEVAPSGQGERVVNVPLCQEDCEEWWEDCRMSYTCKSNWRGGWDWSQGKNRCPKGAQCLPFSHYFPTPADLCEKTWSNSFKASPERRNSGRCLQKWFEPAQGNPNVAVARLFASSAPSWELSYTIMVCSLFLPFLS", "length": 250, "header": "sp|A6ND01-1|JUNO_HUMAN Isoform 1 of Sperm-egg fusion protein Juno OS=Homo sapiens OX=9606 GN=IZUMO1R PE=1 SV=3 CANONICAL=A6ND01-1" }, "locus": { "chromosome": "11", "start_pos": 94307689, "end_pos": 94305637, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000328458.6", "url": "https://www.ensembl.org/id/ENST00000328458.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000332963.5", "url": "https://www.ensembl.org/id/ENSP00000332963.5" } ] } }, { "isoform_ac": "A6ND01-2", "url": "", "sequence": { "sequence": "MACWWPLLLELWTVMPTWAGDELLNICMNAKHHKRVPSPEDKLYEECIPWKDNACCTLTTSWEAHLDVSPLYNFSLFHCGLLMPGCRKHFIQAICFYECSPNLGPWIQPVAPSGQGERVVNVPLCQEDCEEWWEDCRMSYTCKSNWRGGWDWSQGKNRCPKGAQCLPFSHYFPTPADLCEKTWSNSFKASPERRNSGRCLQKWFEPAQGNPNVAVARLFASSAPSWELSYTIMVCSLFLPFLS", "length": 243, "header": "sp|A6ND01-2|JUNO_HUMAN Isoform 2 of Sperm-egg fusion protein Juno OS=Homo sapiens OX=9606 GN=IZUMO1R PE=1 SV=3 CANONICAL=A6ND01-1" }, "locus": { "chromosome": "11", "start_pos": 94307689, "end_pos": 94305637, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000440961.6", "url": "https://www.ensembl.org/id/ENST00000440961.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000416935.2", "url": "https://www.ensembl.org/id/ENSP00000416935.2" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 73, "start_aa": "Asn", "end_pos": 73, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn73", "evidence": [ { "id": "A6ND01", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A6ND01#ptm_processing" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_predicted" ], "publication": [ { "title": "Structure and expression of the human glycosylphosphatidylinositol phospholipase D1 (GPLD1) gene.", "journal": "Biochimica et biophysica acta", "date": "2000", "authors": "Schofield JN, Rademacher TW", "evidence": [ { "database": "Reactome", "id": "R-HSA-163125", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-163125" } ], "reference": [ { "type": "PubMed", "id": "11072085", "url": "https://glygen.org/publication/PubMed/11072085" } ] }, { "title": "A glycan-phosphatidylinositol-specific phospholipase D in human serum.", "journal": "Science (New York, N.Y.)", "date": "1987", "authors": "Davitz MA, Hereld D, Shak S, Krakow J, Englund PT, Nussenzweig V", "evidence": [ { "database": "Reactome", "id": "R-HSA-163125", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-163125" } ], "reference": [ { "type": "PubMed", "id": "2443973", "url": "https://glygen.org/publication/PubMed/2443973" } ] }, { "title": "Juno is the egg Izumo receptor and is essential for mammalian fertilization.", "journal": "Nature", "date": "2014", "authors": "Bianchi E, Doe B, Goulding D, Wright GJ", "evidence": [ { "database": "UniProtKB", "id": "A6ND01", "url": "https://www.uniprot.org/uniprot/A6ND01" } ], "reference": [ { "type": "PubMed", "id": "24739963", "url": "https://glygen.org/publication/PubMed/24739963" } ] }, { "title": "Structure of IZUMO1-JUNO reveals sperm-oocyte recognition during mammalian fertilization.", "journal": "Nature", "date": "2016", "authors": "Ohto U, Ishida H, Krayukhina E, Uchiyama S, Inoue N, Shimizu T", "evidence": [ { "database": "UniProtKB", "id": "A6ND01", "url": "https://www.uniprot.org/uniprot/A6ND01" }, { "database": "RefSeq", "id": "NP_001186135", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186135" } ], "reference": [ { "type": "PubMed", "id": "27309808", "url": "https://glygen.org/publication/PubMed/27309808" } ] }, { "title": "Molecular architecture of the human sperm IZUMO1 and egg JUNO fertilization complex.", "journal": "Nature", "date": "2016", "authors": "Aydin H, Sultana A, Li S, Thavalingam A, Lee JE", "evidence": [ { "database": "UniProtKB", "id": "A6ND01", "url": "https://www.uniprot.org/uniprot/A6ND01" }, { "database": "RefSeq", "id": "NP_001186135", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186135" } ], "reference": [ { "type": "PubMed", "id": "27309818", "url": "https://glygen.org/publication/PubMed/27309818" } ] }, { "title": "Structural and functional insights into IZUMO1 recognition by JUNO in mammalian fertilization.", "journal": "Nature communications", "date": "2016", "authors": "Kato K, Satouh Y, Nishimasu H, Kurabayashi A, Morita J, Fujihara Y, Oji A, Ishitani R, Ikawa M, Nureki O", "evidence": [ { "database": "RefSeq", "id": "NP_001186135", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186135" } ], "reference": [ { "type": "PubMed", "id": "27416963", "url": "https://glygen.org/publication/PubMed/27416963" } ] }, { "title": "Mutational analysis of IZUMO1R in women with fertilization failure and polyspermy after in vitro fertilization.", "journal": "Journal of assisted reproduction and genetics", "date": "2018", "authors": "Yu M, Zhao H, Chen T, Tian Y, Li M, Wu K, Bian Y, Su S, Cao Y, Ning Y, Liu H, Chen ZJ", "evidence": [ { "database": "RefSeq", "id": "NP_001186135", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186135" } ], "reference": [ { "type": "PubMed", "id": "29243140", "url": "https://glygen.org/publication/PubMed/29243140" } ] }, { "title": "JUNO, the receptor of sperm IZUMO1, is expressed by the human oocyte and is essential for human fertilisation.", "journal": "Human reproduction (Oxford, England)", "date": "2019", "authors": "Jean C, Haghighirad F, Zhu Y, Chalbi M, Ziyyat A, Rubinstein E, Gourier C, Yip P, Wolf JP, Lee JE, Boucheix C, Barraud-Lange V", "evidence": [ { "database": "RefSeq", "id": "NP_001186135", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186135" } ], "reference": [ { "type": "PubMed", "id": "30517645", "url": "https://glygen.org/publication/PubMed/30517645" } ] }, { "title": "A phospholipase D specific for the phosphatidylinositol anchor of cell-surface proteins is abundant in plasma.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1988", "authors": "Low MG, Prasad AR", "evidence": [ { "database": "Reactome", "id": "R-HSA-163125", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-163125" } ], "reference": [ { "type": "PubMed", "id": "3422494", "url": "https://glygen.org/publication/PubMed/3422494" } ] }, { "title": "Genetic diversity in the IZUMO1-JUNO protein-receptor pair involved in human reproduction.", "journal": "PloS one", "date": "2021", "authors": "Allingham J, Floriano WB", "evidence": [ { "database": "RefSeq", "id": "NP_001186135", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186135" } ], "reference": [ { "type": "PubMed", "id": "34879103", "url": "https://glygen.org/publication/PubMed/34879103" } ] }, { "title": "MAIA, Fc receptor-like 3, supersedes JUNO as IZUMO1 receptor during human fertilization.", "journal": "Sci. Adv.", "date": "2022", "authors": "Vondrakova Jana, Frolikova Michaela, Ded Lukas, Cerny Jiri, Postlerova Pavla, Palenikova Veronika, Simonik Ondrej, Nahacka Zuzana, Basus Krystof, Valaskova Eliska, Machan Radek, Pacey Allan, Holubcova Zuzana, Koubek Pavel, Ezrova Zuzana, Park Soojin, Liu Ruiwu, Partha Raghavendran, Clark Nathan, Neuzil Jiri, Ikawa Masahito, Erickson Kent, Lam Kit S, Moore Harry, Komrskova Katerina", "evidence": [ { "database": "UniProtKB", "id": "A6ND01", "url": "https://www.uniprot.org/uniprot/A6ND01" } ], "reference": [ { "type": "PubMed", "id": "36070373", "url": "https://glygen.org/publication/PubMed/36070373" } ] } ], "pathway": [ { "id": "hsa:390243", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:390243", "resource": "KEGG Pathway" }, { "id": "R-HSA-163125", "name": "Post-translational modification: synthesis of GPI-anchored proteins", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-163125", "resource": "Reactome", "description": "Post-translational modification: synthesis of GPI-anchored proteins" } ], "orthologs": [ { "uniprot_canonical_ac": "F1M928-1", "protein_name": "IZUMO1 receptor, JUNO", "gene_name": "Izumo1r", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MAQWWLILLGLWTVLPSLAGGKLLNVCMNSKHHKQEPGPEDKLYFECMPWKDNACCTRDTSWEAHLDEPLLFNFSMTHCGLLTPLCHKHFIQAICFYECSPNLGPWIQPVVPNRQEEQRLWDVPLCLEDCEEWWKDCRTSHTCKADWLHGWVWDQGKNGCPAHAPCLPFSDYFPTPADLCEKIWNNTFKASPERRNSGRCLQKWFEPTHGNPNVEVALHFAGSASAPQLSYSITAFSLCLLLHA", "length": 244 }, "evidence": [ { "id": "A6ND01", "url": "https://omabrowser.org/oma/group/A6ND01/", "database": "OMA" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q9EQF4-1", "protein_name": "Sperm-egg fusion protein Juno", "gene_name": "Izumo1r", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MAQWWQILLGLWAVLPTLAGDKLLSVCMNSKRHKQEPGPEDELYQECRPWEDNACCTRSTSWEAHLEEPLLFNFSMMHCGLLTPACRKHFIQAICFHECSPNLGPWIQPVVPNGQEEQRVWGVPLCQEDCEDWWRACHSSLTCKSNWLHGWDWSEEKKHCPAHEPCLPFSYHFPTPDDLCEKIWNNTFKASPERRNSGRCLQKWFEPTLSNPNVEVALHFAGSALAPQLSYTLPAFSLCLLFHP", "length": 244 }, "evidence": [ { "id": "45932688", "url": "http://www.informatics.jax.org/homology/45932688", "database": "MGI" }, { "id": "A6ND01", "url": "https://omabrowser.org/oma/group/A6ND01/", "database": "OMA" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Biological Process", "total": 4, "go_terms": [ { "name": "sperm-egg recognition", "id": "GO:0035036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035036", "evidence": [ { "database": "UniProtKB", "id": "A6ND01", "url": "https://www.uniprot.org/uniprot/A6ND01" } ], "pmid": "" }, { "name": "cell adhesion", "id": "GO:0007155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007155", "evidence": [ { "database": "UniProtKB", "id": "A6ND01", "url": "https://www.uniprot.org/uniprot/A6ND01" } ], "pmid": "" }, { "name": "fusion of sperm to egg plasma membrane involved in single fertilization", "id": "GO:0007342", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007342", "evidence": [ { "database": "UniProtKB", "id": "A6ND01", "url": "https://www.uniprot.org/uniprot/A6ND01" } ], "pmid": "" }, { "name": "single fertilization", "id": "GO:0007338", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007338", "evidence": [ { "database": "UniProtKB", "id": "A6ND01", "url": "https://www.uniprot.org/uniprot/A6ND01" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 2, "go_terms": [ { "name": "signaling receptor binding", "id": "GO:0005102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005102", "evidence": [ { "database": "UniProtKB", "id": "A6ND01", "url": "https://www.uniprot.org/uniprot/A6ND01" } ], "pmid": "" }, { "name": "signaling receptor activity", "id": "GO:0038023", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038023", "evidence": [ { "database": "UniProtKB", "id": "A6ND01", "url": "https://www.uniprot.org/uniprot/A6ND01" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 4, "go_terms": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "A6ND01", "url": "https://www.uniprot.org/uniprot/A6ND01" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "A6ND01", "url": "https://www.uniprot.org/uniprot/A6ND01" } ], "pmid": "" }, { "name": "external side of plasma membrane", "id": "GO:0009897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009897", "evidence": [ { "database": "UniProtKB", "id": "A6ND01", "url": "https://www.uniprot.org/uniprot/A6ND01" } ], "pmid": "" }, { "name": "microvillus membrane", "id": "GO:0031528", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031528", "evidence": [ { "database": "UniProtKB", "id": "A6ND01", "url": "https://www.uniprot.org/uniprot/A6ND01" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 73, "end_pos": 75, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.oma", "label": "OMA Homologs" }, { "name": "homologset.mgi", "label": "MGI Homologs" } ], "sequence_features": { "n_linked_sites": [ 73 ], "o_linked_sites": [], "snv_sites": [ 73, 130, 158 ], "glycation_sites": [], "phosphorylation_sites": [], "sequon_annotation_sites": [ { "start_pos": 73, "end_pos": 75 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", 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