{ "uniprot_canonical_ac": "P01225-1", "uniprot_ac": "P01225", "uniprot_id": "FSHB_HUMAN", "mass": { "chemical_mass": 14700.0, "monoisotopic_mass": 14700.0 }, "refseq": { "ac": "NP_000501", "name": "follitropin subunit beta precursor", "summary": "The pituitary glycoprotein hormone family includes follicle-stimulating hormone, luteinizing hormone, chorionic gonadotropin, and thyroid-stimulating hormone. All of these glycoproteins consist of an identical alpha subunit and a hormone-specific beta subunit. This gene encodes the beta subunit of follicle-stimulating hormone. In conjunction with luteinizing hormone, follicle-stimulating hormone induces egg and sperm production. Alternative splicing results in two transcript variants encoding the same protein. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000501" }, "gene_names": [ { "name": "FSHB", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P01225", "id": "P01225" }, { "name": "FSHB", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000501", "id": "NP_000501" }, { "name": "HH24", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000501", "id": "NP_000501" } ], "protein_names": [ { "name": "Follitropin subunit beta", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P01225" }, { "name": "FSH-B", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P01225" }, { "name": "FSH-beta", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P01225" }, { "name": "Follicle-stimulating hormone beta subunit", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P01225" }, { "name": "Follitropin beta chain", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P01225" }, { "name": "follitropin subunit beta precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000501", "id": "NP_000501" }, { "name": "follitropin, beta chain; follitropin subunit beta; FSH-B; FSH-beta; follicle stimulating hormone, beta polypeptide; follicle stimulating hormone beta subunit", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000501", "id": "NP_000501" } ], "function": [ { "annotation": "A speech planning network for interactive language use.", "evidence": [ { "database": "RefSeq", "id": "NP_000501", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000501" }, { "database": "PubMed", "id": "34987226", "url": "https://glygen.org/publication/PubMed/34987226" } ] }, { "annotation": "Effects of FSHR and FSHB Variants on Hormonal Profile and Reproductive Outcomes of Infertile Women With Endometriosis. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000501", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000501" }, { "database": "PubMed", "id": "34659133", "url": "https://glygen.org/publication/PubMed/34659133" } ] }, { "annotation": "FSHB Genotype Identified as a Relevant Diagnostic Parameter Revealed by Cluster Analysis of Men With Idiopathic Infertility. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000501", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000501" }, { "database": "PubMed", "id": "34992580", "url": "https://glygen.org/publication/PubMed/34992580" } ] }, { "annotation": "Implication of FSHB rs10835638 variant in endometriosis in Brazilian women. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000501", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000501" }, { "database": "PubMed", "id": "37909652", "url": "https://glygen.org/publication/PubMed/37909652" } ] }, { "annotation": "Spontaneous alterations in semen parameters are associated with age, accessory gland function and the FSHB c.-211G>T variant.", "evidence": [ { "database": "RefSeq", "id": "NP_000501", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000501" }, { "database": "PubMed", "id": "36908159", "url": "https://glygen.org/publication/PubMed/36908159" } ] }, { "annotation": "The pituitary glycoprotein hormone family includes follicle-stimulating hormone, luteinizing hormone, chorionic gonadotropin, and thyroid-stimulating hormone. All of these glycoproteins consist of an identical alpha subunit and a hormone-specific beta subunit. This gene encodes the beta subunit of follicle-stimulating hormone. In conjunction with luteinizing hormone, follicle-stimulating hormone induces egg and sperm production. Alternative splicing results in two transcript variants encoding the same protein. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_000501", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000501" } ] }, { "annotation": "Together with the alpha chain CGA constitutes follitropin, the follicle-stimulating hormone, and provides its biological specificity to the hormone heterodimer. Binds FSHR, a G protein-coupled receptor, on target cells to activate downstream signaling pathways (PubMed:2494176, PubMed:24692546). Follitropin is involved in follicle development and spermatogenesis in reproductive organs (PubMed:407105, PubMed:8220432).", "evidence": [ { "database": "UniProtKB", "id": "P01225", "url": "https://www.uniprot.org/uniprot/P01225#function" }, { "database": "PubMed", "id": "8220432", "url": "https://glygen.org/publication/PubMed/8220432" }, { "database": "PubMed", "id": "2494176", "url": "https://glygen.org/publication/PubMed/2494176" }, { "database": "PubMed", "id": "24692546", "url": "https://glygen.org/publication/PubMed/24692546" }, { "database": "PubMed", "id": "407105", "url": "https://glygen.org/publication/PubMed/407105" } ] } ], "disease": [ { "disease_id": "DOID:0090088", "recommended_name": { "id": "DOID:0090088", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0090088", "name": "hypogonadotropic hypogonadism 24 without anosmia", "description": "A hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in the FSHB gene on chromosome 11p14." }, "synonyms": [ { "id": "DOID:0090088", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0090088", "name": "isolated follicle-stimulating hormone deficiency", "description": "" }, { "id": "MONDO:0009239", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009239", "name": "hypogonadotropic hypogonadism 24 without anosmia", "description": "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FSHB gene." }, { "id": "MONDO:0009239", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009239", "name": "FSHB hypogonadotropic hypogonadism", "description": "" }, { "id": "MONDO:0009239", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009239", "name": "hypogonadotropic hypogonadism 24 without anosmia", "description": "" }, { "id": "MONDO:0009239", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009239", "name": "hypogonadotropic hypogonadism caused by mutation in FSHB", "description": "" }, { "id": "MONDO:0009239", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009239", "name": "isolated FSH deficiency", "description": "" }, { "id": "MONDO:0009239", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009239", "name": "isolated follicle-stimulating hormone deficiency", "description": "" }, { "id": "MONDO:0009239", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009239", "name": "HH24", "description": "" }, { "id": "MONDO:0009239", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009239", "name": "follicle-stimulating hormone deficiency, isolated", "description": "" }, { "id": "MONDO:0009239", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009239", "name": "isolated follicle stimulating hormone deficiency", "description": "" }, { "id": "MONDO:0009239", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009239", "name": "isolated follicle-stimulating hormone (FSH) deficiency", "description": "" }, { "id": "MIM:229070", "resource": "MIM", "url": "https://www.omim.org/entry/229070", "name": "Hypogonadotropic hypogonadism 24 with or without anosmia", "description": "Hypogonadotropic hypogonadism 24 with or without anosmia" } ], "evidence": [ { "id": "229070", "database": "MIM", "url": "https://www.omim.org/entry/229070" } ] } ], "snv": [ { "evidence": [ { "id": "P01225", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P01225" }, { "id": "rs267602841", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs267602841" }, { "id": "rs267602841", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs267602841" }, { "id": "rs267602841", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs267602841" }, { "id": "rs267602841", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs267602841#frequency_tab" }, { "id": "rs267602841", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs267602841" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 108, "end_pos": 108, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (DST->NST).", "chr_id": "11", "chr_pos": "30233732", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "D108", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs944749696", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs944749696" }, { "id": "rs944749696", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs944749696" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 42, "end_pos": 42, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NTT->STT).", "chr_id": "11", "chr_pos": "30232027", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N42", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [ { "start_pos": 78, "end_pos": 78, "sequence_org": "T", "sequence_mut": "E", "comment": "Increased activation of the follicle-stimulating hormone signaling pathway.", "evidence": [ { "database": "UniProtKB", "id": "P01225", "url": "https://www.uniprot.org/uniprot/P01225" }, { "database": "PubMed", "id": "24692546", "url": "https://glygen.org/publication/PubMed/24692546" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "46.07", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000131808", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000131808" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "42.09", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000131808", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000131808" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "27.66", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000131808", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000131808" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "49.96", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000131808", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000131808" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "17.43", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000131808", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000131808" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "16.94", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000131808", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000131808" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "47.76", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000131808", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000131808" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "30.35", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000131808", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000131808" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "27.18", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000131808", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000131808" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "47.6", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000131808", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000131808" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "24.08", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000131808", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000131808" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "21.35", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000131808", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000131808" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "27.44", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000131808", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000131808" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P01225", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P01225" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "No", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P01225", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P01225" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "P01225", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P01225" } ], "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 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"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": 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"https://omabrowser.org/oma/group/P01225/", "database": "OMA" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q60687-1", "protein_name": "Follitropin subunit beta", "gene_name": "Fshb", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MMKLIQLCILFWCWRAICCHSCELTNITISVEKEECRFCISINTTWCAGYCYTRDLVYKDPARPNTQKVCTFKELVYETVRLPGCARHSDSLYTYPVATECHCGKCDSDSTDCTVRGLGPSYCSFSEMKE", "length": 130 }, "evidence": [ { "id": "45919741", "url": "http://www.informatics.jax.org/homology/45919741", "database": "MGI" }, { "id": "P01225", "url": "https://omabrowser.org/oma/group/P01225/", "database": "OMA" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 4, "go_terms": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "P01225", "url": "https://www.uniprot.org/uniprot/P01225" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P01225", "url": "https://www.uniprot.org/uniprot/P01225" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P01225", "url": "https://www.uniprot.org/uniprot/P01225" } ], "pmid": "" }, { "name": "follicle-stimulating hormone complex", "id": "GO:0016914", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016914", "evidence": [ { "database": "UniProtKB", "id": "P01225", "url": "https://www.uniprot.org/uniprot/P01225" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 16, "go_terms": [ { "name": "G protein-coupled receptor signaling pathway", "id": "GO:0007186", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007186", "evidence": [ { "database": "UniProtKB", "id": "P01225", "url": "https://www.uniprot.org/uniprot/P01225" } ], "pmid": "" }, { "name": "spermatogenesis", "id": "GO:0007283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007283", "evidence": [ { "database": "UniProtKB", "id": "P01225", "url": "https://www.uniprot.org/uniprot/P01225" } ], "pmid": "" }, { "name": "positive regulation of cell population proliferation", "id": "GO:0008284", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008284", "evidence": [ { "database": "UniProtKB", "id": "P01225", "url": "https://www.uniprot.org/uniprot/P01225" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "P01225", "url": "https://www.uniprot.org/uniprot/P01225" } ], "pmid": "" }, { "name": "positive regulation of cell migration", "id": "GO:0030335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030335", "evidence": [ { "database": "UniProtKB", "id": "P01225", "url": "https://www.uniprot.org/uniprot/P01225" } ], "pmid": "" }, { "name": "positive regulation of transcription by RNA polymerase II", "id": "GO:0045944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045944", "evidence": [ { "database": "UniProtKB", "id": "P01225", "url": "https://www.uniprot.org/uniprot/P01225" } ], "pmid": "" }, { "name": "transforming growth factor beta receptor signaling pathway", "id": "GO:0007179", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007179", "evidence": [ { "database": "UniProtKB", "id": "P01225", "url": "https://www.uniprot.org/uniprot/P01225" } ], "pmid": "" }, { "name": "positive regulation of bone resorption", "id": "GO:0045780", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045780", "evidence": [ { "database": "UniProtKB", "id": "P01225", "url": "https://www.uniprot.org/uniprot/P01225" } ], "pmid": "" }, { "name": "female pregnancy", "id": "GO:0007565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007565", "evidence": [ { "database": "UniProtKB", "id": "P01225", "url": "https://www.uniprot.org/uniprot/P01225" } ], "pmid": "" }, { "name": "regulation of signaling receptor activity", "id": "GO:0010469", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010469", "evidence": [ { "database": "UniProtKB", "id": "P01225", "url": "https://www.uniprot.org/uniprot/P01225" } ], "pmid": "" }, { "name": "progesterone biosynthetic process", "id": "GO:0006701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006701", "evidence": [ { "database": "UniProtKB", "id": "P01225", "url": "https://www.uniprot.org/uniprot/P01225" } ], "pmid": "" }, { "name": "follicle-stimulating hormone signaling pathway", "id": "GO:0042699", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042699", "evidence": [ { "database": "UniProtKB", "id": "P01225", "url": "https://www.uniprot.org/uniprot/P01225" } ], "pmid": "" }, { "name": "Sertoli cell proliferation", "id": "GO:0060011", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060011", "evidence": [ { "database": "UniProtKB", "id": "P01225", "url": "https://www.uniprot.org/uniprot/P01225" } ], "pmid": "" }, { "name": "regulation of osteoclast differentiation", "id": "GO:0045670", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045670", "evidence": [ { "database": "UniProtKB", "id": "P01225", "url": "https://www.uniprot.org/uniprot/P01225" } ], "pmid": "" }, { "name": "female gamete generation", "id": "GO:0007292", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007292", "evidence": [ { "database": "UniProtKB", "id": "P01225", "url": "https://www.uniprot.org/uniprot/P01225" } ], "pmid": "" }, { "name": "positive regulation of steroid biosynthetic process", "id": "GO:0010893", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010893", "evidence": [ { "database": "UniProtKB", "id": "P01225", "url": "https://www.uniprot.org/uniprot/P01225" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 1, "go_terms": [ { "name": "follicle-stimulating hormone activity", "id": "GO:0016913", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016913", "evidence": [ { "database": "UniProtKB", "id": "P01225", "url": "https://www.uniprot.org/uniprot/P01225" } ], "pmid": "" } ] } ] }, "pro_annotation": [ { "name": "follitropin subunit beta N-glycosylated 1 (human)", "definition": "A follitropin subunit beta (human) that has been N-glycosylated at the residue equivalent to Asn-25 of the amino acid sequence represented by UniProtKB:P01225-1, in which the glycan structure is represented by GlyTouCan:G08146BT. Example: UniProtKB:P01225-1, Asn-25, MOD:00160~GNO:G08146BT. [PRO:DNx, PMID:16834341]", "evidence": [ { "id": "PR:000051730", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000051730" } ] }, { "name": "follitropin subunit beta N-glycosylated 2 (human)", "definition": "A follitropin subunit beta (human) that has been N-glycosylated at the residue equivalent to Asn-25 of the amino acid sequence represented by UniProtKB:P01225-1, in which the glycan structure is represented by GlyTouCan:G32246SI. Example: UniProtKB:P01225-1, Asn-25, MOD:00160~GNO:G32246SI. [PRO:DNx, PMID:16834341]", "evidence": [ { "id": "PR:000051731", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000051731" } ] }, { "name": "follitropin subunit beta N-glycosylated 3 (human)", "definition": "A follitropin subunit beta (human) that has been N-glycosylated at the residue equivalent to Asn-25 of the amino acid sequence represented by UniProtKB:P01225-1, in which the glycan structure is represented by GlyTouCan:G79745PG. Example: UniProtKB:P01225-1, Asn-25, MOD:00160~GNO:G79745PG. [PRO:DNx, PMID:16834341]", "evidence": [ { "id": "PR:000051732", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000051732" } ] }, { "name": "follitropin subunit beta N-glycosylated 4 (human)", "definition": "A follitropin subunit beta (human) that has been N-glycosylated at the residue equivalent to Asn-25 of the amino acid sequence represented by UniProtKB:P01225-1, in which the glycan structure is represented by GlyTouCan:G90789YQ. Example: UniProtKB:P01225-1, Asn-25, MOD:00160~GNO:G90789YQ. [PRO:DNx, PMID:16834341]", "evidence": [ { "id": "PR:000051733", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000051733" } ] }, { "name": "follitropin subunit beta N-glycosylated 5 (human)", "definition": "A follitropin subunit beta (human) that has been N-glycosylated at the residue equivalent to Asn-42 of the amino acid sequence represented by UniProtKB:P01225-1, in which the glycan structure is represented by GlyTouCan:G05850WN. Example: UniProtKB:P01225-1, Asn-42, MOD:00160~GNO:G05850WN. [PRO:DNx, PMID:16834341]", "evidence": [ { "id": "PR:000051734", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000051734" } ] }, { "name": "follitropin subunit beta N-glycosylated 6 (human)", "definition": "A follitropin subunit beta (human) that has been N-glycosylated at the residue equivalent to Asn-42 of the amino acid sequence represented by UniProtKB:P01225-1, in which the glycan structure is represented by GlyTouCan:G08146BT. Example: UniProtKB:P01225-1, Asn-42, MOD:00160~GNO:G08146BT. [PRO:DNx, PMID:16834341]", "evidence": [ { "id": "PR:000051735", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000051735" } ] }, { "name": "follitropin subunit beta N-glycosylated 7 (human)", "definition": "A follitropin subunit beta (human) that has been N-glycosylated at the residue equivalent to Asn-42 of the amino acid sequence represented by UniProtKB:P01225-1, in which the glycan structure is represented by GlyTouCan:G32246SI. Example: UniProtKB:P01225-1, Asn-42, MOD:00160~GNO:G32246SI. [PRO:DNx, PMID:16834341]", "evidence": [ { "id": "PR:000051736", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000051736" } ] }, { "name": "follitropin subunit beta N-glycosylated 8 (human)", "definition": "A follitropin subunit beta (human) that has been N-glycosylated at the residue equivalent to Asn-42 of the amino acid sequence represented by UniProtKB:P01225-1, in which the glycan structure is represented by GlyTouCan:G43753QH. Example: UniProtKB:P01225-1, Asn-42, MOD:00160~GNO:G43753QH. [PRO:DNx, PMID:16834341]", "evidence": [ { "id": "PR:000051737", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000051737" } ] }, { "name": "follitropin subunit beta N-glycosylated 9 (human)", "definition": "A follitropin subunit beta (human) that has been N-glycosylated at the residue equivalent to Asn-42 of the amino acid sequence represented by UniProtKB:P01225-1, in which the glycan structure is represented by GlyTouCan:G45495MK. Example: UniProtKB:P01225-1, Asn-42, MOD:00160~GNO:G45495MK. [PRO:DNx, PMID:16834341]", "evidence": [ { "id": "PR:000051738", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000051738" } ] }, { "name": "follitropin subunit beta N-glycosylated 10 (human)", "definition": "A follitropin subunit beta (human) that has been N-glycosylated at the residue equivalent to Asn-42 of the amino acid sequence represented by UniProtKB:P01225-1, in which the glycan structure is represented by GlyTouCan:G50131RA. Example: UniProtKB:P01225-1, Asn-42, MOD:00160~GNO:G50131RA. [PRO:DNx, PMID:16834341]", "evidence": [ { "id": "PR:000051739", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000051739" } ] }, { "name": "follitropin subunit beta N-glycosylated 11 (human)", "definition": "A follitropin subunit beta (human) that has been N-glycosylated at the residue equivalent to Asn-42 of the amino acid sequence represented by UniProtKB:P01225-1, in which the glycan structure is represented by GlyTouCan:G51177EP. Example: UniProtKB:P01225-1, Asn-42, MOD:00160~GNO:G51177EP. [PRO:DNx, PMID:16834341]", "evidence": [ { "id": "PR:000051740", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000051740" } ] }, { "name": "follitropin subunit beta N-glycosylated 12 (human)", "definition": "A follitropin subunit beta (human) that has been N-glycosylated at the residue equivalent to Asn-42 of the amino acid sequence represented by UniProtKB:P01225-1, in which the glycan structure is represented by GlyTouCan:G51497BL. Example: UniProtKB:P01225-1, Asn-42, MOD:00160~GNO:G51497BL. [PRO:DNx, PMID:16834341]", "evidence": [ { "id": "PR:000051741", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000051741" } ] } ], "site_annotation": [ { "start_pos": 25, "end_pos": 27, "annotation": "n_glycosylation_sequon" }, { "start_pos": 42, "end_pos": 44, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "homologset.oma", "label": "OMA Homologs" }, { "name": "homologset.mgi", "label": "MGI Homologs" } ], "sequence_features": { "n_linked_sites": [ 25, 42 ], "o_linked_sites": [], "snv_sites": [ 42, 108 ], "glycation_sites": [], "phosphorylation_sites": [], "sequon_annotation_sites": [ { "start_pos": 25, "end_pos": 27 }, { "start_pos": 42, "end_pos": 44 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 32 }, { "field": "total_sites", "count": 3 }, { "field": "n_linked_glycans", "count": 28 }, { "field": "n_linked_glycan_sites", "count": 5 }, { "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": 2 }, { "field": "total_sites", "count": 2 }, { "field": "n_linked_glycans", "count": 0 }, { "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_with_glycan", "table_stats": [ { "field": "total", "count": 30 }, { "field": "total_sites", "count": 3 }, { "field": "n_linked_glycans", "count": 28 }, { "field": "n_linked_glycan_sites", "count": 3 }, { "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": 2 }, { "field": "total_sites", "count": 2 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "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": 1 }, { "field": "total_sites", "count": 1 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "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": 100 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }