{ "uniprot_canonical_ac": "Q16270-1", "uniprot_ac": "Q16270", "uniprot_id": "IBP7_HUMAN", "mass": { "chemical_mass": 29130.0, "monoisotopic_mass": 29130.0 }, "refseq": { "ac": "NP_001240764", "name": "insulin-like growth factor-binding protein 7 isoform 2 precursor", "summary": "This gene encodes a member of the insulin-like growth factor (IGF)-binding protein (IGFBP) family. IGFBPs bind IGFs with high affinity, and regulate IGF availability in body fluids and tissues and modulate IGF binding to its receptors. This protein binds IGF-I and IGF-II with relatively low affinity, and belongs to a subfamily of low-affinity IGFBPs. It also stimulates prostacyclin production and cell adhesion. Alternatively spliced transcript variants encoding different isoforms have been described for this gene, and one variant has been associated with retinal arterial macroaneurysm (PMID:21835307). [provided by RefSeq, Dec 2011].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001240764" }, "gene_names": [ { "name": "IGFBP7", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/Q16270", "id": "Q16270" }, { "name": "AGM; FSTL2; IBP-7; IGFBP-7; IGFBP-7v; IGFBPRP1; MAC25; PSF; RAMSVPS; TAF", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001240764", "id": "NP_001240764" }, { "name": "IGFBP7", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001240764", "id": "NP_001240764" }, { "name": "MAC25", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q16270", "id": "Q16270" }, { "name": "PSF", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q16270", "id": "Q16270" } ], "protein_names": [ { "name": "Insulin-like growth factor-binding protein 7", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "Q16270" }, { "name": "IBP-7", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q16270" }, { "name": "IGF-binding protein 7", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q16270" }, { "name": "IGFBP-7", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q16270" }, { "name": "IGFBP-rP1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q16270" }, { "name": "MAC25 protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q16270" }, { "name": "PGI2-stimulating factor", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q16270" }, { "name": "Prostacyclin-stimulating factor", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q16270" }, { "name": "TAF", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q16270" }, { "name": "Tumor-derived adhesion factor", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q16270" }, { "name": "angiomodulin; IGFBP-rP1; IGF-binding protein 7; PGI2-stimulating factor; tumor-derived adhesion factor; prostacyclin-stimulating factor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001240764", "id": "NP_001240764" }, { "name": "insulin-like growth factor-binding protein 7 isoform 2 precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001240764", "id": "NP_001240764" } ], "function": [ { "annotation": "Binds IGF-I and IGF-II with a relatively low affinity. Stimulates prostacyclin (PGI2) production. Stimulates cell adhesion.", "evidence": [ { "database": "UniProtKB", "id": "Q16270", "url": "https://www.uniprot.org/uniprot/Q16270#function" }, { "database": "PubMed", "id": "8939990", "url": "https://glygen.org/publication/PubMed/8939990" }, { "database": "PubMed", "id": "8117260", "url": "https://glygen.org/publication/PubMed/8117260" } ] }, { "annotation": "IGFBP-7 secreted by adipose-derived stem cells inhibits keloid formation via the BRAF/MEK/ERK signaling pathway.", "evidence": [ { "database": "RefSeq", "id": "NP_001240764", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001240764" }, { "database": "PubMed", "id": "37316358", "url": "https://glygen.org/publication/PubMed/37316358" } ] }, { "annotation": "IGFBP7 Fuels the Glycolytic Metabolism in B-Cell Precursor Acute Lymphoblastic Leukemia by Sustaining Activation of the IGF1R-Akt-GLUT1 Axis. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001240764", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001240764" }, { "database": "PubMed", "id": "37298628", "url": "https://glygen.org/publication/PubMed/37298628" } ] }, { "annotation": "IGFBP7 enhances trophoblast invasion via IGF-1R/c-Jun signaling in unexplained recurrent spontaneous abortion. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001240764", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001240764" }, { "database": "PubMed", "id": "35900339", "url": "https://glygen.org/publication/PubMed/35900339" } ] }, { "annotation": "Insulin-like growth factor binding protein 7 (IGFBP7), a link between heart failure and senescence.", "evidence": [ { "database": "RefSeq", "id": "NP_001240764", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001240764" }, { "database": "PubMed", "id": "36088651", "url": "https://glygen.org/publication/PubMed/36088651" } ] }, { "annotation": "The diagnostic value of serum insulin-like growth factor binding protein 7 in gastric cancer. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001240764", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001240764" }, { "database": "PubMed", "id": "37304887", "url": "https://glygen.org/publication/PubMed/37304887" } ] }, { "annotation": "This gene encodes a member of the insulin-like growth factor (IGF)-binding protein (IGFBP) family. IGFBPs bind IGFs with high affinity, and regulate IGF availability in body fluids and tissues and modulate IGF binding to its receptors. This protein binds IGF-I and IGF-II with relatively low affinity, and belongs to a subfamily of low-affinity IGFBPs. It also stimulates prostacyclin production and cell adhesion. Alternatively spliced transcript variants encoding different isoforms have been described for this gene, and one variant has been associated with retinal arterial macroaneurysm (PMID:21835307). [provided by RefSeq, Dec 2011].", "evidence": [ { "database": "RefSeq", "id": "NP_001240764", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001240764" } ] } ], "disease": [ { "disease_id": "MONDO:0013640", "recommended_name": { "id": "MONDO:0013640", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013640", "name": "familial retinal arterial macroaneurysm", "description": "" }, "synonyms": [ { "id": "MONDO:0013640", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013640", "name": "Fram", "description": "" }, { "id": "MONDO:0013640", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013640", "name": "retinal arterial macroaneurysm and supravalvular pulmonic stenosis", "description": "" }, { "id": "MONDO:0013640", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013640", "name": "RAMSVPS", "description": "" }, { "id": "MONDO:0013640", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013640", "name": "retinal arterial macroaneurysm with supravalvular pulmonic stenosis", "description": "" }, { "id": "MIM:614224", "resource": "MIM", "url": "https://www.omim.org/entry/614224", "name": "Retinal arterial macroaneurysm with supravalvular pulmonic stenosis", "description": "Retinal arterial macroaneurysm with supravalvular pulmonic stenosis" } ], "evidence": [ { "id": "614224", "database": "MIM", "url": "https://www.omim.org/entry/614224" } ] } ], "snv": [ { "evidence": [ { "id": "rs1578658738", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1578658738" }, { "id": "rs1578658738", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1578658738" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 123, "end_pos": 123, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DGT->NGT).", "chr_id": "4", "chr_pos": "57109985", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D123", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1436894408", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1436894408" }, { "id": "rs1436894408", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1436894408" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 153, "end_pos": 153, "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (KGT->NGT).", "chr_id": "4", "chr_pos": "57109893", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K153", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1160794093", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1160794093" }, { "id": "rs1160794093", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1160794093#frequency_tab" }, { "id": "rs1160794093", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1160794093" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 188, "end_pos": 188, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->A).", "chr_id": "4", "chr_pos": "57040847", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T188", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1260203199", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1260203199" }, { "id": "rs1260203199", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1260203199" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 236, "end_pos": 236, "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss 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"database": "Bgee", "id": "ENSG00000163453", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000163453" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "99.02", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000163453", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000163453" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "99.09", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000163453", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000163453" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "99.62", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000163453", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000163453" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "99.8", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000163453", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000163453" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "99.72", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000163453", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000163453" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "98.63", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000163453", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000163453" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "99.58", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000163453", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000163453" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "99.49", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000163453", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000163453" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "Q16270", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q16270" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", 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"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": "Q16270", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q16270" } ], "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": "" }, 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"id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine 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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 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Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "No", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "Q16270", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q16270" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", 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"http://www.pantherdb.org/panther/family.do?clsAccession=PTHR14186:SF15", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF00219", "url": "http://pfam.xfam.org/family/PF00219", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF07648", "url": "http://pfam.xfam.org/family/PF07648", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF07679", "url": "http://pfam.xfam.org/family/PF07679", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "Q16270", "url": "https://pharos.nih.gov/targets/Q16270", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR:000057301", "url": "https://proconsortium.org/app/entry/PR:000057301", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000057302", "url": "https://proconsortium.org/app/entry/PR:000057302", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000057303", "url": 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"https://www.uniprot.org/uniprot/Q16270", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q16270-1", "url": "https://www.uniprot.org/uniprot/Q16270-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q16270-2", "url": "https://www.uniprot.org/uniprot/Q16270-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MERPSLRALLLGAAGLLLLLLPLSSSSSSDTCGPCEPASCPPLPPLGCLLGETRDACGCCPMCARGEGEPCGGGGAGRGYCAPGMECVKSRKRRKGKAGAAAGGPGVSGVCVCKSRYPVCGSDGTTYPSGCQLRAASQRAESRGEKAITQVSKGTCEQGPSIVTPPKDIWNVTGAQVYLSCEVIGIPTPVLIWNKVKRGHYGVQRTELLPGDRDNLAIQTRGGPEKHEVTGWVLVSPLSKEDAGEYECHASNSQGQASASAKITVVDALHEIPVKKGEGAEL", "length": 282, "header": "sp|Q16270-1|IBP7_HUMAN Isoform 1 of Insulin-like growth factor-binding protein 7 OS=Homo sapiens OX=9606 GN=IGFBP7 PE=1 SV=1 CANONICAL=Q16270-1" }, "isoforms": [ { "isoform_ac": "Q16270-1", "url": "", "sequence": { "sequence": "MERPSLRALLLGAAGLLLLLLPLSSSSSSDTCGPCEPASCPPLPPLGCLLGETRDACGCCPMCARGEGEPCGGGGAGRGYCAPGMECVKSRKRRKGKAGAAAGGPGVSGVCVCKSRYPVCGSDGTTYPSGCQLRAASQRAESRGEKAITQVSKGTCEQGPSIVTPPKDIWNVTGAQVYLSCEVIGIPTPVLIWNKVKRGHYGVQRTELLPGDRDNLAIQTRGGPEKHEVTGWVLVSPLSKEDAGEYECHASNSQGQASASAKITVVDALHEIPVKKGEGAEL", "length": 282, "header": "sp|Q16270-1|IBP7_HUMAN Isoform 1 of Insulin-like growth factor-binding protein 7 OS=Homo sapiens OX=9606 GN=IGFBP7 PE=1 SV=1 CANONICAL=Q16270-1" }, "locus": { "chromosome": "4", "start_pos": 57110351, "end_pos": 57031320, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000295666.6", "url": "https://www.ensembl.org/id/ENST00000295666.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000295666.4", "url": "https://www.ensembl.org/id/ENSP00000295666.4" } ] } }, { "isoform_ac": "Q16270-2", "url": "", "sequence": { "sequence": "MERPSLRALLLGAAGLLLLLLPLSSSSSSDTCGPCEPASCPPLPPLGCLLGETRDACGCCPMCARGEGEPCGGGGAGRGYCAPGMECVKSRKRRKGKAGAAAGGPGVSGVCVCKSRYPVCGSDGTTYPSGCQLRAASQRAESRGEKAITQVSKGTCEQGPSIVTPPKDIWNVTGAQVYLSCEVIGIPTPVLIWNKVKRGHYGVQRTELLPGDRDNLAIQTRGGPEKHEVTGWVLVSPLSKEDAGEYECHASNSQGQASASAKITVVDALHEIPVKKGTQ", "length": 279, "header": "sp|Q16270-2|IBP7_HUMAN Isoform 2 of Insulin-like growth factor-binding protein 7 OS=Homo sapiens OX=9606 GN=IGFBP7 PE=1 SV=1 CANONICAL=Q16270-1" }, "locus": { "chromosome": "4", "start_pos": 57110351, "end_pos": 57032418, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000514062.2", "url": "https://www.ensembl.org/id/ENST00000514062.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000486293.1", "url": "https://www.ensembl.org/id/ENSP00000486293.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 171, "start_aa": "Asn", "end_pos": 171, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn171", "evidence": [ { "id": "Q16270", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q16270#ptm_processing" }, { "id": "8939990", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/8939990" } ] }, { "glytoucan_ac": "G43417UB", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 188, "start_aa": "Thr", "end_pos": 188, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr188", "evidence": [ { "id": "Q16270", "database": "UniCarbKB", "url": "" }, { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "GHYGVQRTELLPGDRDNLAIQTR", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 199, "start_aa": "Gly", "end_pos": 221, "end_aa": "Arg", "evidence": [ { "id": "Q16270", "database": "UniCarbKB", "url": "" }, { "id": "23584533", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23584533" }, { "id": "10.1038/emboj.2013.79", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 206, "start_aa": "Thr", "end_pos": 206, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr206", "evidence": [ { "id": "Q16270", "database": "UniCarbKB", "url": "" }, { "id": "23584533", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23584533" }, { "id": "10.1038/emboj.2013.79", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "TELLPGDRDNLAIQTR", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 206, "start_aa": "Thr", "end_pos": 221, "end_aa": "Arg", "evidence": [ { "id": "Q16270", "database": "UniCarbKB", "url": "" }, { "id": "23584533", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23584533" }, { "id": "10.1038/emboj.2013.79", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "DNLAIQTR", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 214, "start_aa": "Asp", "end_pos": 221, "end_aa": "Arg", "evidence": [ { "id": "Q16270", "database": "UniCarbKB", "url": "" }, { "id": "23584533", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23584533" }, { "id": "10.1038/emboj.2013.79", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "AIQTRGGPEKHEVTGW", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 217, "start_aa": "Ala", "end_pos": 232, "end_aa": "Trp", "evidence": [ { "id": "Q16270", "database": "UniCarbKB", "url": "" }, { "id": "23584533", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23584533" }, { "id": "10.1038/emboj.2013.79", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 220, "start_aa": "Thr", "end_pos": 220, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr220", "evidence": [ { "id": "Q16270", "database": "UniCarbKB", "url": "" }, { "id": "23584533", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23584533" }, { "id": "10.1038/emboj.2013.79", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "GGPEKHEVTGWVLVSPLSK", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 222, "start_aa": "Gly", "end_pos": 240, "end_aa": "Lys", "evidence": [ { "id": "Q16270", "database": "UniCarbKB", "url": "" }, { "id": "23584533", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23584533" }, { "id": "10.1038/emboj.2013.79", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "HEVTGWVLVSPLSK", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 227, "start_aa": "His", "end_pos": 240, "end_aa": "Lys", "evidence": [ { "id": "Q16270", "database": "UniCarbKB", "url": "" }, { "id": "23584533", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23584533" }, { "id": "10.1038/emboj.2013.79", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 230, "start_aa": "Thr", "end_pos": 230, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr230", "evidence": [ { "id": "Q16270", "database": "UniCarbKB", "url": "" }, { "id": "23584533", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23584533" }, { "id": "10.1038/emboj.2013.79", "database": "DOI", "url": 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"id": "GO:0050810", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050810", "evidence": [ { "database": "UniProtKB", "id": "Q16270", "url": "https://www.uniprot.org/uniprot/Q16270" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 1, "go_terms": [ { "name": "insulin-like growth factor binding", "id": "GO:0005520", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005520", "evidence": [ { "database": "UniProtKB", "id": "Q16270", "url": "https://www.uniprot.org/uniprot/Q16270" } ], "pmid": "" } ] } ] }, "pro_annotation": [ { "name": "insulin-like growth factor-binding protein 7 O-glycosylated 1 (human)", "definition": "An insulin-like growth factor-binding protein 7 (human) that has been O-glycosylated at the residue equivalent to Ser-39 of the amino acid sequence represented by UniProtKB:Q16270-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:Q16270-1, Ser-39, MOD:00002~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000057301", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000057301" } ] }, { "name": "insulin-like growth factor-binding protein 7 O-glycosylated 2 (human)", "definition": "An insulin-like growth factor-binding protein 7 (human) that has been O-glycosylated at the residue equivalent to Thr-188 of the amino acid sequence represented by UniProtKB:Q16270-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:Q16270-1, Thr-188, MOD:00005~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000057302", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000057302" } ] }, { "name": "insulin-like growth factor-binding protein 7 O-glycosylated 3 (human)", "definition": "An insulin-like growth factor-binding protein 7 (human) that has been O-glycosylated at the residue equivalent to Thr-31 of the amino acid sequence represented by UniProtKB:Q16270-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:Q16270-1, Thr-31, MOD:00005~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000057303", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000057303" } ] } ], "site_annotation": [ { "start_pos": 171, "end_pos": 173, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [ { "annotation": "N-glycosylated.", "evidence": [ { "database": "UniProtKB", "id": "Q16270", "url": "https://www.uniprot.org/uniprot/Q16270" }, { "database": "PubMed", "id": "8939990", "url": "https://glygen.org/publication/PubMed/8939990" } ] } ], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" } ], "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 17 }, { "field": "total_sites", "count": 10 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycans", "count": 2 }, { "field": "o_linked_glycan_sites", "count": 9 } ], "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": 16 }, { "field": "total_sites", "count": 9 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 2 }, { "field": "o_linked_glycan_sites", "count": 9 } ], "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": 1 }, { "field": "total_sites", "count": 1 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 9 }, { "field": "total_sites", "count": 7 } ], "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": 9 }, { "field": "total_sites", "count": 7 } ], "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": 106 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }