{ "uniprot_canonical_ac": "P01229-1", "uniprot_ac": "P01229", "uniprot_id": "LSHB_HUMAN", "mass": { "chemical_mass": 15345.0, "monoisotopic_mass": 15345.0 }, "refseq": { "ac": "NP_000885", "name": "lutropin subunit beta precursor", "summary": "This gene is a member of the glycoprotein hormone beta chain family and encodes the beta subunit of luteinizing hormone (LH). Glycoprotein hormones are heterodimers consisting of a common alpha subunit and an unique beta subunit which confers biological specificity. LH is expressed in the pituitary gland and promotes spermatogenesis and ovulation by stimulating the testes and ovaries to synthesize steroids. The genes for the beta chains of chorionic gonadotropin and for luteinizing hormone are contiguous on chromosome 19q13.3. Mutations in this gene are associated with hypogonadism which is characterized by infertility and pseudohermaphroditism. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000885" }, "gene_names": [ { "name": "LHB", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P01229", "id": "P01229" }, { "name": "CGB4; HH23; LSH-B; LSH-beta", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000885", "id": "NP_000885" }, { "name": "LHB", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000885", "id": "NP_000885" } ], "protein_names": [ { "name": "Lutropin subunit beta", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P01229" }, { "name": "LH-B", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P01229" }, { "name": "LSH-B", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P01229" }, { "name": "LSH-beta", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P01229" }, { "name": "Luteinizing hormone subunit beta", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P01229" }, { "name": "Lutropin beta chain", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P01229" }, { "name": "interstitial cell stimulating hormone, beta chain; lutropin subunit beta; luteinizing hormone beta subunit; lutropin beta chain; luteinizing hormone beta polypeptide", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000885", "id": "NP_000885" }, { "name": "lutropin subunit beta precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000885", "id": "NP_000885" } ], "function": [ { "annotation": "Elevated circulating luteinizing hormone levels are associated with diabetic macroalbuminuria in Chinese men and postmenopausal women: A cross-sectional study.", "evidence": [ { "database": "RefSeq", "id": "NP_000885", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000885" }, { "database": "PubMed", "id": "32475064", "url": "https://glygen.org/publication/PubMed/32475064" } ] }, { "annotation": "Proliferating primary pituitary cells as a model for studying regulation of gonadotrope chromatin and gene expression.", "evidence": [ { "database": "RefSeq", "id": "NP_000885", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000885" }, { "database": "PubMed", "id": "34090968", "url": "https://glygen.org/publication/PubMed/34090968" } ] }, { "annotation": "Promotes spermatogenesis and ovulation by stimulating the testes and ovaries to synthesize steroids.", "evidence": [ { "database": "UniProtKB", "id": "P01229", "url": "https://www.uniprot.org/uniprot/P01229#function" } ] }, { "annotation": "Single molecule characterization of the binding kinetics of a transcription factor and its modulation by DNA sequence and methylation.", "evidence": [ { "database": "RefSeq", "id": "NP_000885", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000885" }, { "database": "PubMed", "id": "34606618", "url": "https://glygen.org/publication/PubMed/34606618" } ] }, { "annotation": "This gene is a member of the glycoprotein hormone beta chain family and encodes the beta subunit of luteinizing hormone (LH). Glycoprotein hormones are heterodimers consisting of a common alpha subunit and an unique beta subunit which confers biological specificity. LH is expressed in the pituitary gland and promotes spermatogenesis and ovulation by stimulating the testes and ovaries to synthesize steroids. The genes for the beta chains of chorionic gonadotropin and for luteinizing hormone are contiguous on chromosome 19q13.3. Mutations in this gene are associated with hypogonadism which is characterized by infertility and pseudohermaphroditism. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_000885", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000885" } ] } ], "disease": [ { "disease_id": "DOID:0090091", "recommended_name": { "id": "DOID:0090091", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0090091", "name": "hypogonadotropic hypogonadism 23 with or without anosmia", "description": "A hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in the LHB gene on chromosome 19q13." }, "synonyms": [ { "id": "DOID:0090091", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0090091", "name": "46,XY DSD due to LHB deficiency", "description": "" }, { "id": "DOID:0090091", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0090091", "name": "Pasqualini syndrome", "description": "" }, { "id": "DOID:0090091", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0090091", "name": "fertile eunuch syndrome", "description": "" }, { "id": "DOID:0090091", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0090091", "name": "leydig cell hypoplasia due to LHB deficiency", "description": "" }, { "id": "DOID:0090091", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0090091", "name": "46,XY disorder of sex development due to luteinizing hormone subunit beta deficiency", "description": "" }, { "id": "DOID:0090091", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0090091", "name": "46,XY disorder of sex development due to LHB deficiency", "description": "" }, { "id": "DOID:0090091", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0090091", "name": "46,XY DSD due to luteinizing hormone subunit beta deficiency", "description": "" }, { "id": "DOID:0090091", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0090091", "name": "Leydig cell hypoplasia due to luteinizing hormone subunit beta deficiency", "description": "" }, { "id": "MONDO:0009223", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009223", "name": "hypogonadotropic hypogonadism 23 with or without anosmia", "description": "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the LHB gene." }, { "id": "MONDO:0009223", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009223", "name": "46,XY DSD due to LHB deficiency", "description": "" }, { "id": "MONDO:0009223", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009223", "name": "46,XY DSD due to luteinizing hormone subunit beta deficiency", "description": "" }, { "id": "MONDO:0009223", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009223", "name": "46,XY disorder of sex development due to LHB deficiency", "description": "" }, { "id": "MONDO:0009223", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009223", "name": "46,XY disorder of sex development due to luteinizing hormone subunit beta deficiency", "description": "" }, { "id": "MONDO:0009223", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009223", "name": "LHB hypogonadotropic hypogonadism", "description": "" }, { "id": "MONDO:0009223", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009223", "name": "Leydig cell hypoplasia due to LHB deficiency", "description": "" }, { "id": "MONDO:0009223", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009223", "name": "Leydig cell hypoplasia due to luteinizing hormone subunit beta deficiency", "description": "" }, { "id": "MONDO:0009223", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009223", "name": "Pasqualini syndrome", "description": "" }, { "id": "MONDO:0009223", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009223", "name": "fertile eunuch syndrome", "description": "" }, { "id": "MONDO:0009223", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009223", "name": "hypogonadotropic hypogonadism caused by mutation in LHB", "description": "" }, { "id": "MONDO:0009223", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009223", "name": "HH23", "description": "" }, { "id": "MONDO:0009223", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009223", "name": "eunuchoidism with spermatogenesis, normal FSH and low or normal interstitial cell-stimulating hormone (ICSH)", "description": "" }, { "id": "MONDO:0009223", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009223", "name": "hypogonadotropic hypogonadism 23 without anosmia", "description": "" }, { "id": "MIM:228300", "resource": "MIM", "url": "https://www.omim.org/entry/228300", "name": "Hypogonadotropic hypogonadism 23 with or without anosmia", "description": "Hypogonadotropic hypogonadism 23 with or without anosmia" } ], "evidence": [ { "id": "228300", "database": "MIM", "url": "https://www.omim.org/entry/228300" } ] } ], "snv": [ { "evidence": [ { "id": "rs34349826", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs34349826" }, { "id": "rs34349826", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs34349826" }, { "id": "rs34349826", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs34349826#frequency_tab" }, { "id": "rs34349826", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs34349826" }, { "id": "10199775", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/10199775" }, { "id": "10323405", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/10323405" }, { "id": "10468997", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/10468997" }, { "id": "12620433", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/12620433" }, { "id": "1727817", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/1727817" }, { "id": "7714098", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/7714098" }, { "id": "7904610", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/7904610" }, { "id": "8784083", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/8784083" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 35, "end_pos": 35, "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NAI->NAT).", "chr_id": "19", "chr_pos": "49016626", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I35", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "59.88", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000104826", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000104826" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "65.27", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000104826", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000104826" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "30.97", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000104826", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000104826" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "70.37", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000104826", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000104826" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "17.43", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000104826", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000104826" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "16.94", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000104826", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000104826" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "57.12", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000104826", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000104826" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "56.47", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000104826", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000104826" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "55.67", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000104826", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000104826" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "57.28", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000104826", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000104826" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "40.15", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000104826", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000104826" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "60.66", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000104826", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000104826" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "64.99", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000104826", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000104826" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P01229", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P01229" } ], "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": 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"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", 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"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 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"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": 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}, { "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", 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"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": "P01229", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P01229" } ], "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", 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"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": 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"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 bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the 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"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": "Yes", "trend": "up", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "P01229", "url": 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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": "P01229", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P01229" } ], "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": "No", "trend": "up", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "P01229", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P01229" } ], "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": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "P01229", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P01229" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "P01229", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P01229" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "P01229", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P01229" } ], "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": "Yes", "trend": "up", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "P01229", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P01229" } ], "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": "" }, 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"categories": [ "Glycoproteomics" ] }, { "id": "PR:000051759", "url": "https://proconsortium.org/app/entry/PR:000051759", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR_P01229", "url": "http://purl.obolibrary.org/obo/PR_P01229", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-193048", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-193048", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-193993", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-193993", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-209822", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-209822", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-375281", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-375281", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-975578", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-975578", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_000885", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000885", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "P01229", "url": "DISABLED", "database": "UniCarbKB", "categories": [ "Glycoproteomics" ] }, { "id": "P01229", "url": "https://www.uniprot.org/uniprot/P01229", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P01229-1", "url": "https://www.uniprot.org/uniprot/P01229-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MEMLQGLLLLLLLSMGGAWASREPLRPWCHPINAILAVEKEGCPVCITVNTTICAGYCPTMMRVLQAVLPPLPQVVCTYRDVRFESIRLPGCPRGVDPVVSFPVALSCRCGPCRRSTSDCGGPKDHPLTCDHPQLSGLLFL", "length": 141, "header": "sp|P01229-1|LSHB_HUMAN Isoform 1 of Lutropin subunit beta OS=Homo sapiens OX=9606 GN=LHB PE=1 SV=3 CANONICAL=P01229-1" }, "isoforms": [ { "isoform_ac": "P01229-1", "url": "", "sequence": { "sequence": "MEMLQGLLLLLLLSMGGAWASREPLRPWCHPINAILAVEKEGCPVCITVNTTICAGYCPTMMRVLQAVLPPLPQVVCTYRDVRFESIRLPGCPRGVDPVVSFPVALSCRCGPCRRSTSDCGGPKDHPLTCDHPQLSGLLFL", "length": 141, "header": "sp|P01229-1|LSHB_HUMAN Isoform 1 of Lutropin subunit beta OS=Homo sapiens OX=9606 GN=LHB PE=1 SV=3 CANONICAL=P01229-1" }, "locus": { "chromosome": "19", "start_pos": 49017081, "end_pos": 49016071, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000649238.3", "url": "https://www.ensembl.org/id/ENST00000649238.3" }, { "database": "Ensembl Peptide", "id": "ENSP00000497294.2", "url": "https://www.ensembl.org/id/ENSP00000497294.2" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G06209KS", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "ASN-50 ; ASN-50", "start_pos": 50, "start_aa": "Asn", "end_pos": 50, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn50", "evidence": [ { "id": "P01229", "database": "UniCarbKB", "url": "" }, { "id": "1991473", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/1991473" }, { "id": "350", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/350" } ] }, { "glytoucan_ac": "G06356OH", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 50, "start_aa": "Asn", "end_pos": 50, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn50", "evidence": [ { "id": "350", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/350" }, { "id": "1991473", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/1991473" } ] }, { "glytoucan_ac": "G10258MC", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "GlycoSuiteDB curation notes. Reported structure can be attached to the following: ASN-50", "start_pos": 50, "start_aa": "Asn", "end_pos": 50, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn50", "evidence": [ { "id": "P01229", "database": "UniCarbKB", "url": "" }, { "id": "1991473", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/1991473" }, { "id": "350", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/350" } ] }, { "glytoucan_ac": "G14047PA", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "ASN-50 ; ASN-50", "start_pos": 50, "start_aa": "Asn", "end_pos": 50, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn50", "evidence": [ { "id": "P01229", "database": "UniCarbKB", "url": "" }, { "id": "1991473", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/1991473" }, { "id": "350", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/350" } ] }, { "glytoucan_ac": "G14998UC", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "GlycoSuiteDB curation notes. Reported structure can be attached to the following: ASN-50", "start_pos": 50, "start_aa": "Asn", "end_pos": 50, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn50", "evidence": [ { "id": "P01229", "database": "UniCarbKB", "url": "" }, { "id": "1991473", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/1991473" }, { "id": "350", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/350" } ] }, { "glytoucan_ac": "G22310AV", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 50, "start_aa": "Asn", "end_pos": 50, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn50", "evidence": [ { "id": "350", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/350" }, { "id": "1991473", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/1991473" } ] }, { "glytoucan_ac": "G24413UY", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "GlycoSuiteDB curation notes. Reported structure can be attached to the following: ASN-50", "start_pos": 50, "start_aa": "Asn", "end_pos": 50, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn50", "evidence": [ { "id": "P01229", "database": "UniCarbKB", "url": "" }, { "id": "1991473", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/1991473" }, { "id": "350", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/350" } ] }, { "glytoucan_ac": "G24835MQ", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 50, "start_aa": "Asn", "end_pos": 50, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn50", "evidence": [ { "id": "350", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/350" }, { "id": "1991473", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/1991473" } ] }, { "glytoucan_ac": "G25835MT", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "ASN-50 ; ASN-50", "start_pos": 50, "start_aa": "Asn", "end_pos": 50, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn50", "evidence": [ { "id": "P01229", "database": "UniCarbKB", "url": "" }, { "id": "1991473", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/1991473" }, { "id": "350", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/350" } ] }, { "glytoucan_ac": "G26403SG", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 50, "start_aa": "Asn", "end_pos": 50, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn50", "evidence": [ { "id": "350", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/350" }, { "id": "1991473", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/1991473" } ] }, { "glytoucan_ac": "G28975ZZ", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 50, "start_aa": "Asn", "end_pos": 50, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn50", "evidence": [ { "id": "350", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/350" }, { "id": "1991473", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/1991473" } ] }, { "glytoucan_ac": "G32659RY", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "GlycoSuiteDB curation notes. Reported structure can be attached to the following: ASN-50", "start_pos": 50, "start_aa": "Asn", "end_pos": 50, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn50", "evidence": [ { "id": "P01229", "database": "UniCarbKB", "url": "" }, { "id": "1991473", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/1991473" }, { "id": "350", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/350" } ] }, { "glytoucan_ac": "G39540XG", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "ASN-50 ; ASN-50", "start_pos": 50, "start_aa": "Asn", "end_pos": 50, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn50", "evidence": [ { "id": "P01229", "database": "UniCarbKB", "url": "" }, { "id": "1991473", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/1991473" }, { "id": "350", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/350" } ] }, { "glytoucan_ac": "G40671AG", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 50, "start_aa": "Asn", "end_pos": 50, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn50", "evidence": [ { "id": "350", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/350" }, { "id": "1991473", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/1991473" } ] }, { "glytoucan_ac": "G43346PX", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "ASN-50 ; ASN-50", "start_pos": 50, "start_aa": "Asn", "end_pos": 50, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn50", "evidence": [ { "id": "P01229", "database": "UniCarbKB", "url": "" }, { "id": "1991473", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/1991473" }, { "id": "350", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/350" } ] }, { "glytoucan_ac": "G46422KL", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 50, "start_aa": "Asn", "end_pos": 50, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn50", "evidence": [ { "id": "350", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/350" }, { "id": "1991473", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/1991473" } ] }, { "glytoucan_ac": "G48414YA", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 50, "start_aa": "Asn", "end_pos": 50, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn50", "evidence": [ { "id": "350", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/350" }, { "id": "1991473", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/1991473" } ] }, { "glytoucan_ac": "G49743VF", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "GlycoSuiteDB curation notes. Reported structure can be attached to the following: ASN-50", "start_pos": 50, "start_aa": "Asn", "end_pos": 50, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn50", "evidence": [ { "id": "P01229", "database": "UniCarbKB", "url": "" }, { "id": "1991473", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/1991473" }, { "id": "350", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/350" } ] }, { "glytoucan_ac": "G53933HU", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "ASN-50 ; ASN-50", "start_pos": 50, "start_aa": "Asn", "end_pos": 50, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn50", "evidence": [ { "id": "P01229", "database": "UniCarbKB", "url": "" }, { "id": "1991473", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/1991473" }, { "id": "350", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/350" } ] }, { "glytoucan_ac": "G53985AY", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "ASN-50 ; ASN-50", "start_pos": 50, "start_aa": "Asn", "end_pos": 50, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn50", "evidence": [ { "id": "P01229", "database": "UniCarbKB", "url": "" }, { "id": "1991473", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/1991473" }, { "id": "350", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/350" } ] }, { "glytoucan_ac": "G54612UD", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 50, "start_aa": "Asn", "end_pos": 50, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn50", "evidence": [ { "id": "350", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/350" }, { "id": "1991473", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/1991473" } ] }, { "glytoucan_ac": "G56271TF", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "ASN-50 ; ASN-50", "start_pos": 50, "start_aa": "Asn", "end_pos": 50, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn50", "evidence": [ { "id": "P01229", "database": "UniCarbKB", "url": "" }, { "id": "1991473", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/1991473" }, { "id": "350", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/350" } ] }, { "glytoucan_ac": "G56345UO", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 50, "start_aa": "Asn", "end_pos": 50, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn50", "evidence": [ { "id": "350", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/350" }, { "id": "1991473", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/1991473" } ] }, { "glytoucan_ac": "G57196QI", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 50, "start_aa": "Asn", "end_pos": 50, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn50", "evidence": [ { "id": "350", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/350" }, { "id": "1991473", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/1991473" } ] }, { "glytoucan_ac": "G72291OX", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 50, "start_aa": "Asn", "end_pos": 50, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn50", "evidence": [ { "id": "350", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/350" }, { "id": "1991473", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/1991473" } ] }, { "glytoucan_ac": "G78890OB", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "GlycoSuiteDB curation notes. Reported structure can be attached to the following: N-50", "start_pos": 50, "start_aa": "Asn", "end_pos": 50, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn50", "evidence": [ { "id": "P01229", "database": "UniCarbKB", "url": "" }, { "id": "1991473", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/1991473" }, { "id": "350", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/350" } ] }, { "glytoucan_ac": "G81198YO", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 50, "start_aa": "Asn", "end_pos": 50, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn50", "evidence": [ { "id": "350", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/350" }, { "id": "1991473", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/1991473" } ] }, { "glytoucan_ac": "G83951ZY", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 50, "start_aa": "Asn", "end_pos": 50, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn50", "evidence": [ { "id": "350", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/350" }, { "id": "1991473", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/1991473" } ] }, { "glytoucan_ac": "G84467IZ", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "GlycoSuiteDB curation notes. Reported structure can be attached to the following: ASN-50", "start_pos": 50, "start_aa": "Asn", "end_pos": 50, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn50", "evidence": [ { "id": "P01229", "database": "UniCarbKB", "url": "" }, { "id": "1991473", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/1991473" }, { "id": "350", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/350" } ] }, { "glytoucan_ac": "G91365ZQ", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "ASN-50 ; ASN-50", "start_pos": 50, "start_aa": "Asn", "end_pos": 50, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn50", "evidence": [ { "id": "P01229", "database": "UniCarbKB", "url": "" }, { "id": "1991473", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/1991473" }, { "id": "350", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/350" } ] }, { "glytoucan_ac": "G96921ZU", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "GlycoSuiteDB curation notes. Reported structure can be attached to the following: N-50", "start_pos": 50, "start_aa": "Asn", "end_pos": 50, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn50", "evidence": [ { "id": "P01229", "database": "UniCarbKB", "url": "" }, { "id": "1991473", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/1991473" }, { "id": "350", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/350" } ] }, { "glytoucan_ac": "G99897FQ", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "GlycoSuiteDB curation notes. Reported structure can be attached to the following: N-50", "start_pos": 50, "start_aa": "Asn", "end_pos": 50, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn50", "evidence": [ { "id": "P01229", "database": "UniCarbKB", "url": "" }, { "id": "1991473", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/1991473" }, { "id": "350", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/350" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 50, "start_aa": "Asn", "end_pos": 50, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn50", "evidence": [ { "id": "P01229", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P01229#ptm_processing" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan", "glycoprotein_reported" ], "publication": [ { "title": "Spectrum of mutations in fucosidosis.", "journal": "European journal of human genetics : EJHG", "date": "1999", "authors": "Willems PJ, Seo HC, Coucke P, Tonlorenzi R, O'Brien JS", "evidence": [ { "database": "Reactome", "id": "R-HSA-975578", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-975578" } ], "reference": [ { "type": "PubMed", "id": "10094192", "url": "https://glygen.org/publication/PubMed/10094192" } ] }, { "title": "Luteinizing hormone and different genetic variants, as indicators of frailty in healthy elderly men.", "journal": "The Journal of clinical endocrinology and metabolism", "date": "1999", "authors": "van den Beld A, Huhtaniemi IT, Pettersson KS, Pols HA, Grobbee DE, de Jong FH, Lamberts SW", "evidence": [ { "database": "dbSNP", "id": "rs34349826", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs34349826" } ], "reference": [ { "type": "PubMed", "id": "10199775", "url": "https://glygen.org/publication/PubMed/10199775" } ] }, { "title": "A new contributing factor to polycystic ovary syndrome: the genetic variant of luteinizing hormone.", "journal": "The Journal of clinical endocrinology and metabolism", "date": "1999", "authors": "Tapanainen JS, Koivunen R, Fauser BC, Taylor AE, Clayton RN, Rajkowa M, White D, Franks S, Anttila L, Pettersson KS, Huhtaniemi IT", "evidence": [ { "database": "dbSNP", "id": "rs34349826", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs34349826" } ], "reference": [ { "type": "PubMed", "id": "10323405", "url": "https://glygen.org/publication/PubMed/10323405" } ] }, { "title": "Mapping of the alpha-1,6-fucosyltransferase gene, FUT8, to human chromosome 14q24.3.", "journal": "Cytogenetics and cell genetics", "date": "1999", "authors": "Yamaguchi Y, Fujii J, Inoue S, Uozumi N, Yanagidani S, Ikeda Y, Egashira M, Miyoshi O, Niikawa N, Taniguchi N", "evidence": [ { "database": "Reactome", "id": "R-HSA-975578", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-975578" } ], "reference": [ { "type": "PubMed", "id": "10343104", "url": "https://glygen.org/publication/PubMed/10343104" } ] }, { "title": "Molecular modeling of human P450c17 (17alpha-hydroxylase/17,20-lyase): insights into reaction mechanisms and effects of mutations.", "journal": "Molecular endocrinology (Baltimore, Md.)", "date": "1999", "authors": "Auchus RJ, Miller WL", "evidence": [ { "database": "Reactome", "id": "R-HSA-193048", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-193048" } ], "reference": [ { "type": "PubMed", "id": "10406467", "url": "https://glygen.org/publication/PubMed/10406467" } ] }, { "title": "Structure and function of HNK-1 sulfotransferase. 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"https://www.reactome.org/PathwayBrowser/#R-HSA-193048" } ], "reference": [ { "type": "PubMed", "id": "8547185", "url": "https://glygen.org/publication/PubMed/8547185" } ] }, { "title": "Members of the G protein-coupled receptor kinase family that phosphorylate the beta2-adrenergic receptor facilitate sequestration.", "journal": "Biochemistry", "date": "1996", "authors": "Menard L, Ferguson SS, Barak LS, Bertrand L, Premont RT, Colapietro AM, Lefkowitz RJ, Caron MG", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "8672451", "url": "https://glygen.org/publication/PubMed/8672451" } ] }, { "title": "The luteinizing hormone/chorionic gonadotropin receptor has distinct transmembrane conductors for cAMP and inositol phosphate signals.", "journal": "The Journal of biological chemistry", "date": "1996", "authors": "Gilchrist RL, Ryu KS, Ji I, Ji TH", "evidence": [ { 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"journal": "American journal of human genetics", "date": "1996", "authors": "Tan J, Dunn J, Jaeken J, Schachter H", "evidence": [ { "database": "Reactome", "id": "R-HSA-975578", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-975578" } ], "reference": [ { "type": "PubMed", "id": "8808595", "url": "https://glygen.org/publication/PubMed/8808595" } ] }, { "title": "Male pseudohermaphroditism resulting from a novel mutation in the human steroid 5 alpha-reductase type 2 gene (SRD5A2).", "journal": "Molecular pathology : MP", "date": "1997", "authors": "Anwar R, Gilbey SG, New JP, Markham AF", "evidence": [ { "database": "Reactome", "id": "R-HSA-193048", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-193048" } ], "reference": [ { "type": "PubMed", "id": "9208814", "url": "https://glygen.org/publication/PubMed/9208814" } ] }, { "title": "Anagrelide as a new platelet-lowering agent in essential thrombocythemia: mechanism of actin, efficacy, toxicity, current indications.", "journal": "Seminars in thrombosis and hemostasis", "date": "1997", "authors": "Tefferi A, Silverstein MN, Petitt RM, Mesa RA, Solberg LA Jr", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "9263355", "url": "https://glygen.org/publication/PubMed/9263355" } ] }, { "title": "Characterization of gonadotropin-releasing hormone analogs based on a sensitive cellular luciferase reporter gene assay.", "journal": "Analytical biochemistry", "date": "1997", "authors": "Beckers T, Reilander H, Hilgard P", "evidence": [ { "database": "Reactome", "id": "R-HSA-375281", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-375281" } ], "reference": [ { "type": "PubMed", "id": "9300077", "url": "https://glygen.org/publication/PubMed/9300077" } ] }, { "title": "Crystal structure of the catalytic domains of adenylyl cyclase in a complex with Gsalpha.GTPgammaS.", "journal": "Science (New York, N.Y.)", "date": "1997", "authors": "Tesmer JJ, Sunahara RK, Gilman AG, Sprang SR", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "9417641", "url": "https://glygen.org/publication/PubMed/9417641" } ] }, { "title": "Second gene for gonadotropin-releasing hormone in humans.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1998", "authors": "White RB, Eisen JA, Kasten TL, Fernald RD", "evidence": [ { "database": "Reactome", "id": "R-HSA-375281", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-375281" } ], "reference": [ { "type": "PubMed", "id": "9419371", "url": "https://glygen.org/publication/PubMed/9419371" } ] }, { "title": "A new molecular variant of luteinizing hormone associated with female infertility.", "journal": "Fertility and sterility", "date": "1998", "authors": "Liao WX, Roy AC, Chan C, Arulkumaran S, Ratnam SS", "evidence": [ { "database": "UniProtKB", "id": "P01229", "url": "https://www.uniprot.org/uniprot/P01229" } ], "reference": [ { "type": "PubMed", "id": "9457942", "url": "https://glygen.org/publication/PubMed/9457942" } ] }, { "title": "Expression cloning of a human sulfotransferase that directs the synthesis of the HNK-1 glycan on the neural cell adhesion molecule and glycolipids.", "journal": "The Journal of biological chemistry", "date": "1998", "authors": "Ong E, Yeh JC, Ding Y, Hindsgaul O, Fukuda M", "evidence": [ { "database": "Reactome", "id": "R-HSA-975578", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-975578" } ], "reference": [ { "type": "PubMed", "id": "9478973", "url": "https://glygen.org/publication/PubMed/9478973" } ] }, { "title": "A critical review of the origin and control of adrenal androgens.", "journal": "Bailliere's clinical obstetrics and gynaecology", "date": "1997", "authors": "McKenna TJ, Fearon U, Clarke D, Cunningham SK", "evidence": [ { "database": "Reactome", "id": "R-HSA-193048", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-193048" } ], "reference": [ { "type": "PubMed", "id": "9536209", "url": "https://glygen.org/publication/PubMed/9536209" } ] }, { "title": "Stimulation of type 1 and type 8 Ca2+/calmodulin-sensitive adenylyl cyclases by the Gs-coupled 5-hydroxytryptamine subtype 5-HT7A receptor.", "journal": "The Journal of biological chemistry", "date": "1998", "authors": "Baker LP, Nielsen MD, Impey S, Metcalf MA, Poser SW, Chan G, Obrietan K, Hamblin MW, Storm DR", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "9651336", "url": "https://glygen.org/publication/PubMed/9651336" } ] }, { "title": "A model for the turnover of dihydrotestosterone in the presence of the irreversible 5 alpha-reductase inhibitors GI198745 and finasteride.", "journal": "Clinical pharmacology and therapeutics", "date": "1998", "authors": "Gisleskog PO, Hermann D, Hammarlund-Udenaes M, Karlsson MO", "evidence": [ { "database": "Reactome", "id": "R-HSA-193048", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-193048" } ], "reference": [ { "type": "PubMed", "id": "9871428", "url": "https://glygen.org/publication/PubMed/9871428" } ] }, { "title": "Increased prevalence of luteinizing hormone beta-subunit variant in Japanese infertility patients.", "journal": "Hum. Reprod.", "date": "1998", "authors": "Takahashi K, Kurioka H, Ozaki T, Kanasaki H, Kohsaka M, Miyazaki K, Karino K", "evidence": [ { "database": "UniProtKB", "id": "P01229", "url": "https://www.uniprot.org/uniprot/P01229" } ], "reference": [ { "type": "PubMed", "id": "9886510", "url": "https://glygen.org/publication/PubMed/9886510" } ] }, { "title": "Expression of human alpha-l-fucosyltransferase gene homologs in monkey kidney COS cells and modification of potential fucosyltransferase acceptor substrates by an endogenous glycosidase.", "journal": "Glycobiology", "date": "1999", "authors": "Clarke JL, Watkins WM", "evidence": [ { "database": "Reactome", "id": "R-HSA-975578", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-975578" } ], "reference": [ { "type": "PubMed", "id": "9949196", "url": "https://glygen.org/publication/PubMed/9949196" } ] } ], "pathway": [ { "id": "hsa:3972", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:3972", "resource": 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"sequence": "MERLQGLLLWLLLSPSVVWASRGPLRPLCRPVNATLAAENEFCPVCITFTTSICAGYCPSMVRVLPAALPPVPQPVCTYRELAFASVRLPGCPPGVDPIVSFPVALSCRCGPCRLSSSDCGGPRTQPMACDLPHLPGLLLL", "length": 141 }, "evidence": [ { "id": "45920636", "url": "http://www.informatics.jax.org/homology/45920636", "database": "MGI" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "P01230-1", "protein_name": "Lutropin subunit beta", "gene_name": "Lhb", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MERLQGLLLWLLLSPSVVWASRGPLRPLCRPVNATLAAENEFCPVCITFTTSICAGYCPSMVRVLPAALPPVPQPVCTYRELRFASVRLPGCPPGVDPIVSFPVALSCRCGPCRLSSSDCGGPRTQPMTCDLPHLPGLLLF", "length": 141 }, "evidence": [ { "id": "45920636", "url": "http://www.informatics.jax.org/homology/45920636", "database": "MGI" }, { "id": "P01229", "url": "https://omabrowser.org/oma/group/P01229/", "database": "OMA" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "P01232-1", "protein_name": "Lutropin subunit beta", "gene_name": "LHB", "tax_id": 9823, "organism": "Sus scrofa", "sequence": { "sequence": "MEMLQGLLLWLLLSVAGVWASRGPLRPLCRPINATLAAENEACPVCITFTTSICAGYCPSMVRVLPAALPPVPQPVCTYRELSFASIRLPGCPPGVDPTVSFPVALSCHCGPCRLSSSDCGGPRAQPLACDRPLLPGLLFL", "length": 141 }, "evidence": [ { "id": "P01229", "url": "https://omabrowser.org/oma/group/P01229/", "database": "OMA" } ], "common_name": "Pig" }, { "uniprot_canonical_ac": "P0DN86-1", "protein_name": "Choriogonadotropin subunit beta 3", "gene_name": "CGB3", "tax_id": 9606, "organism": "Homo sapiens", "sequence": { "sequence": "MEMFQGLLLLLLLSMGGTWASKEPLRPRCRPINATLAVEKEGCPVCITVNTTICAGYCPTMTRVLQGVLPALPQVVCNYRDVRFESIRLPGCPRGVNPVVSYAVALSCQCALCRRSTTDCGGPKDHPLTCDDPRFQDSSSSKAPPPSLPSPSRLPGPSDTPILPQ", "length": 165 }, "evidence": [ { "id": "45920636", "url": "http://www.informatics.jax.org/homology/45920636", "database": "MGI" } ], "common_name": "Human" }, { "uniprot_canonical_ac": "P0DN87-1", "protein_name": "Choriogonadotropin subunit beta 7", "gene_name": "CGB7", "tax_id": 9606, "organism": "Homo 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"id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P01229", "url": "https://www.uniprot.org/uniprot/P01229" } ], "pmid": "" }, { "name": "Golgi lumen", "id": "GO:0005796", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005796", "evidence": [ { "database": "UniProtKB", "id": "P01229", "url": "https://www.uniprot.org/uniprot/P01229" } ], "pmid": "" }, { "name": "pituitary gonadotropin complex", "id": "GO:0061696", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061696", "evidence": [ { "database": "UniProtKB", "id": "P01229", "url": "https://www.uniprot.org/uniprot/P01229" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 6, "go_terms": [ { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "P01229", "url": "https://www.uniprot.org/uniprot/P01229" } ], "pmid": "" }, { "name": "G protein-coupled receptor signaling pathway", "id": "GO:0007186", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007186", "evidence": [ { "database": "UniProtKB", "id": "P01229", "url": "https://www.uniprot.org/uniprot/P01229" } ], "pmid": "" }, { "name": "cell-cell signaling", "id": "GO:0007267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007267", "evidence": [ { "database": "UniProtKB", "id": "P01229", "url": "https://www.uniprot.org/uniprot/P01229" } ], "pmid": "" }, { "name": "male gonad development", "id": "GO:0008584", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008584", "evidence": [ { "database": "UniProtKB", "id": "P01229", "url": "https://www.uniprot.org/uniprot/P01229" } ], "pmid": "" }, { "name": "hormone-mediated signaling pathway", "id": "GO:0009755", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009755", "evidence": [ { "database": "UniProtKB", "id": "P01229", "url": "https://www.uniprot.org/uniprot/P01229" } ], "pmid": "" }, { "name": "progesterone biosynthetic process", "id": "GO:0006701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006701", "evidence": [ { "database": "UniProtKB", "id": "P01229", "url": "https://www.uniprot.org/uniprot/P01229" } ], "pmid": "" } ] } ] }, "pro_annotation": [ { "name": "lutropin subunit beta N-glycosylated 1 (human)", "definition": "A lutropin subunit beta (human) that has been N-glycosylated at the residue equivalent to Asn-50 of the amino acid sequence represented by UniProtKB:P01229-1, in which the glycan structure is represented by GlyTouCan:G06209KS. Example: UniProtKB:P01229-1, Asn-50, MOD:00160~GNO:G06209KS. [PRO:DNx, PMID:1991473]", "evidence": [ { "id": "PR:000051742", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000051742" } ] }, { "name": "lutropin subunit beta N-glycosylated 2 (human)", "definition": "A lutropin subunit beta (human) that has been N-glycosylated at the residue equivalent to Asn-50 of the amino acid sequence represented by UniProtKB:P01229-1, in which the glycan structure is represented by GlyTouCan:G10258MC. Example: UniProtKB:P01229-1, Asn-50, MOD:00160~GNO:G10258MC. [PRO:DNx, PMID:1991473]", "evidence": [ { "id": "PR:000051743", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000051743" } ] }, { "name": "lutropin subunit beta N-glycosylated 3 (human)", "definition": "A lutropin subunit beta (human) that has been N-glycosylated at the residue equivalent to Asn-50 of the amino acid sequence represented by UniProtKB:P01229-1, in which the glycan structure is represented by GlyTouCan:G14047PA. Example: UniProtKB:P01229-1, Asn-50, MOD:00160~GNO:G14047PA. [PRO:DNx, PMID:1991473]", "evidence": [ { "id": "PR:000051744", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000051744" } ] }, { "name": "lutropin subunit beta N-glycosylated 4 (human)", "definition": "A lutropin subunit beta (human) that has been N-glycosylated at the residue equivalent to Asn-50 of the amino acid sequence represented by UniProtKB:P01229-1, in which the glycan structure is represented by GlyTouCan:G14998UC. Example: UniProtKB:P01229-1, Asn-50, MOD:00160~GNO:G14998UC. [PRO:DNx, PMID:1991473]", "evidence": [ { "id": "PR:000051745", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000051745" } ] }, { "name": "lutropin subunit beta N-glycosylated 5 (human)", "definition": "A lutropin subunit beta (human) that has been N-glycosylated at the residue equivalent to Asn-50 of the amino acid sequence represented by UniProtKB:P01229-1, in which the glycan structure is represented by GlyTouCan:G24413UY. Example: UniProtKB:P01229-1, Asn-50, MOD:00160~GNO:G24413UY. [PRO:DNx, PMID:1991473]", "evidence": [ { "id": "PR:000051746", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000051746" } ] }, { "name": "lutropin subunit beta N-glycosylated 6 (human)", "definition": "A lutropin subunit beta (human) that has been N-glycosylated at the residue equivalent to Asn-50 of the amino acid sequence represented by UniProtKB:P01229-1, in which the glycan structure is represented by GlyTouCan:G25835MT. Example: UniProtKB:P01229-1, Asn-50, MOD:00160~GNO:G25835MT. [PRO:DNx, PMID:1991473]", "evidence": [ { "id": "PR:000051747", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000051747" } ] }, { "name": "lutropin subunit beta N-glycosylated 7 (human)", "definition": "A lutropin subunit beta (human) that has been N-glycosylated at the residue equivalent to Asn-50 of the amino acid sequence represented by UniProtKB:P01229-1, in which the glycan structure is represented by GlyTouCan:G32659RY. Example: UniProtKB:P01229-1, Asn-50, MOD:00160~GNO:G32659RY. [PRO:DNx, PMID:1991473]", "evidence": [ { "id": "PR:000051748", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000051748" } ] }, { "name": "lutropin subunit beta N-glycosylated 8 (human)", "definition": "A lutropin subunit beta (human) that has been N-glycosylated at the residue equivalent to Asn-50 of the amino acid sequence represented by UniProtKB:P01229-1, in which the glycan structure is represented by GlyTouCan:G39540XG. Example: UniProtKB:P01229-1, Asn-50, MOD:00160~GNO:G39540XG. [PRO:DNx, PMID:1991473]", "evidence": [ { "id": "PR:000051749", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000051749" } ] }, { "name": "lutropin subunit beta N-glycosylated 9 (human)", "definition": "A lutropin subunit beta (human) that has been N-glycosylated at the residue equivalent to Asn-50 of the amino acid sequence represented by UniProtKB:P01229-1, in which the glycan structure is represented by GlyTouCan:G43346PX. Example: UniProtKB:P01229-1, Asn-50, MOD:00160~GNO:G43346PX. [PRO:DNx, PMID:1991473]", "evidence": [ { "id": "PR:000051750", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000051750" } ] }, { "name": "lutropin subunit beta N-glycosylated 10 (human)", "definition": "A lutropin subunit beta (human) that has been N-glycosylated at the residue equivalent to Asn-50 of the amino acid sequence represented by UniProtKB:P01229-1, in which the glycan structure is represented by GlyTouCan:G49743VF. Example: UniProtKB:P01229-1, Asn-50, MOD:00160~GNO:G49743VF. [PRO:DNx, PMID:1991473]", "evidence": [ { "id": "PR:000051751", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000051751" } ] }, { "name": "lutropin subunit beta N-glycosylated 11 (human)", "definition": "A lutropin subunit beta (human) that has been N-glycosylated at the residue equivalent to Asn-50 of the amino acid sequence represented by UniProtKB:P01229-1, in which the glycan structure is represented by GlyTouCan:G53933HU. Example: UniProtKB:P01229-1, Asn-50, MOD:00160~GNO:G53933HU. [PRO:DNx, PMID:1991473]", "evidence": [ { "id": "PR:000051752", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000051752" } ] }, { "name": "lutropin subunit beta N-glycosylated 12 (human)", "definition": "A lutropin subunit beta (human) that has been N-glycosylated at the residue equivalent to Asn-50 of the amino acid sequence represented by UniProtKB:P01229-1, in which the glycan structure is represented by GlyTouCan:G53985AY. Example: UniProtKB:P01229-1, Asn-50, MOD:00160~GNO:G53985AY. [PRO:DNx, PMID:1991473]", "evidence": [ { "id": "PR:000051753", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000051753" } ] }, { "name": "lutropin subunit beta N-glycosylated 13 (human)", "definition": "A lutropin subunit beta (human) that has been N-glycosylated at the residue equivalent to Asn-50 of the amino acid sequence represented by UniProtKB:P01229-1, in which the glycan structure is represented by GlyTouCan:G56271TF. Example: UniProtKB:P01229-1, Asn-50, MOD:00160~GNO:G56271TF. [PRO:DNx, PMID:1991473]", "evidence": [ { "id": "PR:000051754", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000051754" } ] }, { "name": "lutropin subunit beta N-glycosylated 14 (human)", "definition": "A lutropin subunit beta (human) that has been N-glycosylated at the residue equivalent to Asn-50 of the amino acid sequence represented by UniProtKB:P01229-1, in which the glycan structure is represented by GlyTouCan:G78890OB. Example: UniProtKB:P01229-1, Asn-50, MOD:00160~GNO:G78890OB. [PRO:DNx, PMID:1991473]", "evidence": [ { "id": "PR:000051755", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000051755" } ] }, { "name": "lutropin subunit beta N-glycosylated 15 (human)", "definition": "A lutropin subunit beta (human) that has been N-glycosylated at the residue equivalent to Asn-50 of the amino acid sequence represented by UniProtKB:P01229-1, in which the glycan structure is represented by GlyTouCan:G84467IZ. Example: UniProtKB:P01229-1, Asn-50, MOD:00160~GNO:G84467IZ. [PRO:DNx, PMID:1991473]", "evidence": [ { "id": "PR:000051756", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000051756" } ] }, { "name": "lutropin subunit beta N-glycosylated 16 (human)", "definition": "A lutropin subunit beta (human) that has been N-glycosylated at the residue equivalent to Asn-50 of the amino acid sequence represented by UniProtKB:P01229-1, in which the glycan structure is represented by GlyTouCan:G91365ZQ. Example: UniProtKB:P01229-1, Asn-50, MOD:00160~GNO:G91365ZQ. [PRO:DNx, PMID:1991473]", "evidence": [ { "id": "PR:000051757", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000051757" } ] }, { "name": "lutropin subunit beta N-glycosylated 17 (human)", "definition": "A lutropin subunit beta (human) that has been N-glycosylated at the residue equivalent to Asn-50 of the amino acid sequence represented by UniProtKB:P01229-1, in which the glycan structure is represented by GlyTouCan:G96921ZU. Example: UniProtKB:P01229-1, Asn-50, MOD:00160~GNO:G96921ZU. [PRO:DNx, PMID:1991473]", "evidence": [ { "id": "PR:000051758", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000051758" } ] }, { "name": "lutropin subunit beta N-glycosylated 18 (human)", "definition": "A lutropin subunit beta (human) that has been N-glycosylated at the residue equivalent to Asn-50 of the amino acid sequence represented by UniProtKB:P01229-1, in which the glycan structure is represented by GlyTouCan:G99897FQ. Example: UniProtKB:P01229-1, Asn-50, MOD:00160~GNO:G99897FQ. [PRO:DNx, PMID:1991473]", "evidence": [ { "id": "PR:000051759", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000051759" } ] } ], "site_annotation": [ { "start_pos": 50, "end_pos": 52, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "sequence_features": { "n_linked_sites": [ 50 ], "o_linked_sites": [], "snv_sites": [ 35 ], "glycation_sites": [], "phosphorylation_sites": [], "sequon_annotation_sites": [ { "start_pos": 50, "end_pos": 52 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 33 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 32 }, { "field": "n_linked_glycan_sites", "count": 2 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "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": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "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": 32 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 32 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 } ], "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": 1 }, { "field": "total_sites", "count": 1 } ], "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": 139 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }