{ "uniprot_canonical_ac": "O00425-1", "uniprot_ac": "O00425", "uniprot_id": "IF2B3_HUMAN", "mass": { "chemical_mass": 63705.0, "monoisotopic_mass": 63705.0 }, "refseq": { "ac": "NP_006538", "name": "insulin-like growth factor 2 mRNA-binding protein 3", "summary": "The protein encoded by this gene is primarily found in the nucleolus, where it can bind to the 5' UTR of the insulin-like growth factor II leader 3 mRNA and may repress translation of insulin-like growth factor II during late development. The encoded protein contains several KH domains, which are important in RNA binding and are known to be involved in RNA synthesis and metabolism. A pseudogene exists on chromosome 7, and there are putative pseudogenes on other chromosomes. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006538" }, "gene_names": [ { "name": "IGF2BP3", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O00425", "id": "O00425" }, { "name": "CT98; IMP-3; IMP3; KOC; KOC1; VICKZ3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006538", "id": "NP_006538" }, { "name": "IGF2BP3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006538", "id": "NP_006538" }, { "name": "IMP3", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O00425", "id": "O00425" }, { "name": "KOC1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O00425", "id": "O00425" }, { "name": "VICKZ3", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O00425", "id": "O00425" } ], "protein_names": [ { "name": "Insulin-like growth factor 2 mRNA-binding protein 3", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O00425" }, { "name": "IGF-II mRNA-binding protein 3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00425" }, { "name": "IGF2 mRNA-binding protein 3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00425" }, { "name": "IMP-3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00425" }, { "name": "KH domain-containing protein overexpressed in cancer", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00425" }, { "name": "VICKZ family member 3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00425" }, { "name": "cancer/testis antigen 98; IGF-II mRNA-binding protein 3; KH domain containing protein overexpressed in cancer; VICKZ family member 3; IGF2 mRNA-binding protein 3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006538", "id": "NP_006538" }, { "name": "hKOC", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00425" }, { "name": "insulin-like growth factor 2 mRNA-binding protein 3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006538", "id": "NP_006538" } ], "function": [ { "annotation": "CircRARS synergises with IGF2BP3 to regulate RNA methylation recognition to promote tumour progression in renal cell carcinoma.", "evidence": [ { "database": "RefSeq", "id": "NP_006538", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006538" }, { "database": "PubMed", "id": "38073586", "url": "https://glygen.org/publication/PubMed/38073586" } ] }, { "annotation": "IGF2BP3 mediates the mRNA degradation of NF1 to promote triple-negative breast cancer progression via an m6A-dependent manner.", "evidence": [ { "database": "RefSeq", "id": "NP_006538", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006538" }, { "database": "PubMed", "id": "37743642", "url": "https://glygen.org/publication/PubMed/37743642" } ] }, { "annotation": "Parkin regulates IGF2BP3 through ubiquitination in the tumourigenesis of cervical cancer.", "evidence": [ { "database": "RefSeq", "id": "NP_006538", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006538" }, { "database": "PubMed", "id": "37877353", "url": "https://glygen.org/publication/PubMed/37877353" } ] }, { "annotation": "RNA N6-methyladenosine reader IGF2BP3 promotes acute myeloid leukemia progression by controlling stabilization of EPOR mRNA. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_006538", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006538" }, { "database": "PubMed", "id": "37663284", "url": "https://glygen.org/publication/PubMed/37663284" } ] }, { "annotation": "RNA-binding factor that may recruit target transcripts to cytoplasmic protein-RNA complexes (mRNPs). This transcript 'caging' into mRNPs allows mRNA transport and transient storage. It also modulates the rate and location at which target transcripts encounter the translational apparatus and shields them from endonuclease attacks or microRNA-mediated degradation. Preferentially binds to N6-methyladenosine (m6A)-containing mRNAs and increases their stability (PubMed:29476152). Binds to the 3'-UTR of CD44 mRNA and stabilizes it, hence promotes cell adhesion and invadopodia formation in cancer cells. Binds to beta-actin/ACTB and MYC transcripts. Increases MYC mRNA stability by binding to the coding region instability determinant (CRD) and binding is enhanced by m6A-modification of the CRD (PubMed:29476152). Binds to the 5'-UTR of the insulin-like growth factor 2 (IGF2) mRNAs.", "evidence": [ { "database": "UniProtKB", "id": "O00425", "url": "https://www.uniprot.org/uniprot/O00425#function" }, { "database": "PubMed", "id": "23640942", "url": "https://glygen.org/publication/PubMed/23640942" }, { "database": "PubMed", "id": "16541107", "url": "https://glygen.org/publication/PubMed/16541107" }, { "database": "PubMed", "id": "29476152", "url": "https://glygen.org/publication/PubMed/29476152" } ] }, { "annotation": "The m6A reader IGF2BP3 preserves NOTCH3 mRNA stability to sustain Notch3 signaling and promote tumor metastasis in nasopharyngeal carcinoma.", "evidence": [ { "database": "RefSeq", "id": "NP_006538", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006538" }, { "database": "PubMed", "id": "37853162", "url": "https://glygen.org/publication/PubMed/37853162" } ] }, { "annotation": "The protein encoded by this gene is primarily found in the nucleolus, where it can bind to the 5' UTR of the insulin-like growth factor II leader 3 mRNA and may repress translation of insulin-like growth factor II during late development. The encoded protein contains several KH domains, which are important in RNA binding and are known to be involved in RNA synthesis and metabolism. A pseudogene exists on chromosome 7, and there are putative pseudogenes on other chromosomes. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_006538", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006538" } ] } ], "disease": [], "snv": [], "mutagenesis": [ { "start_pos": 213, "end_pos": 213, "sequence_org": "K", "sequence_mut": "E", "comment": "Partial reduction in interaction with m6A-modified mRNA; when associated with E-294. Loss of homo- and heterooligomerization with IGF2BP1 and IGF2BP2, modestly impaired binding to ACTB and MYC transcripts and almost no effect on ELAVL1-, DHX9- and HNRNPU-binding, nor on subcellular location; when associated with E-294; 422-E-E-423 and 505-E-E-506.", "evidence": [ { "database": "UniProtKB", "id": "O00425", "url": "https://www.uniprot.org/uniprot/O00425" }, { "database": "PubMed", "id": "23640942", "url": "https://glygen.org/publication/PubMed/23640942" }, { "database": "PubMed", "id": "29476152", "url": "https://glygen.org/publication/PubMed/29476152" } ] }, { "start_pos": 294, "end_pos": 294, "sequence_org": "K", "sequence_mut": "E", "comment": "Partial reduction in interaction with m6A-modified mRNA; when associated with E-213. Loss of homo- and heterooligomerization with IGF2BP1 and IGF2BP2, modestly impaired binding to ACTB and MYC transcripts and almost no effect on ELAVL1-, DHX9- and HNRNPU-binding, nor on subcellular location; when associated with E-213; 422-E-E-423 and 505-E-E-506.", "evidence": [ { "database": "UniProtKB", "id": "O00425", "url": "https://www.uniprot.org/uniprot/O00425" }, { "database": "PubMed", "id": "23640942", "url": "https://glygen.org/publication/PubMed/23640942" }, { "database": "PubMed", "id": "29476152", "url": "https://glygen.org/publication/PubMed/29476152" } ] }, { "start_pos": 423, "end_pos": 424, "sequence_org": "KQ", "sequence_mut": "EE", "comment": "Loss of interaction with m6A-modified mRNA; when associated with 505-E-E-506. Loss of homo- and heterooligomerization with IGF2BP1 and IGF2BP2, modestly impaired binding to ACTB and MYC transcripts and almost no effect on ELAVL1-, DHX9- and HNRNPU-binding, nor on subcellular location; when associated with E-213; E-294 and 505-E-E-506.", "evidence": [ { "database": "UniProtKB", "id": "O00425", "url": "https://www.uniprot.org/uniprot/O00425" }, { "database": "PubMed", "id": "23640942", "url": "https://glygen.org/publication/PubMed/23640942" }, { "database": "PubMed", "id": "29476152", "url": "https://glygen.org/publication/PubMed/29476152" } ] }, { "start_pos": 505, "end_pos": 506, "sequence_org": "KG", "sequence_mut": "EE", "comment": "Loss of interaction with m6A-modified mRNA; when associated with 422-E-E-423. Loss of homo- and heterooligomerization with IGF2BP1 and IGF2BP2, modestly impaired binding to ACTB and MYC transcripts and almost no effect on ELAVL1-, DHX9- and HNRNPU-binding, nor on subcellular location; when associated with E-213; E-294 and 422-E-E-423.", "evidence": [ { "database": "UniProtKB", "id": "O00425", "url": "https://www.uniprot.org/uniprot/O00425" }, { "database": "PubMed", "id": "23640942", "url": "https://glygen.org/publication/PubMed/23640942" }, { "database": "PubMed", "id": "29476152", "url": "https://glygen.org/publication/PubMed/29476152" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "43.19", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000136231", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136231" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "69.99", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000136231", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136231" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "56.95", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000136231", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136231" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "49.96", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000136231", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136231" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "61.5", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000136231", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136231" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "60", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000136231", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136231" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "47.76", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000136231", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136231" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "50.06", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000136231", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136231" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "56.88", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000136231", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136231" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "47.6", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000136231", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136231" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "48.05", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000136231", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136231" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "50.82", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000136231", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136231" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "48.81", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000136231", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136231" } ] } ], "expression_disease": [ { "significant": "No", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O00425", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00425" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O00425", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00425" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O00425", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00425" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "O00425", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00425" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "O00425", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00425" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "O00425", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00425" } ], "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O00425", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00425" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "O00425", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00425" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "O00425", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00425" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "O00425", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00425" } ], "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Esophageal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "O00425", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00425" } ], "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Aerodigestive tract cancer, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Escc, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "gastric cardia adenocarcinoma, susceptibility to", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Colorectal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:9256", "evidence": [ { "database": "BioXpress", "id": "O00425", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00425" } ], "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O00425", "url": "https://www.uniprot.org/uniprot/O00425" } ], "common_name": "Human" } ], "gene": [ { "name": "IGF2BP3", "url": "https://www.uniprot.org/uniprot/O00425", "locus": { "chromosome": "7", "start_pos": 23310209, "end_pos": 23470491, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000136231", "url": "https://www.ensembl.org/id/ENSG00000136231" } ] } } ], "crossref": [ { "id": "ENSG00000136231", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136231", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "cd12627", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd12627", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "cd12630", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd12630", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "cd22492", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd22492", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "cd22498", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd22498", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "IGF2BP3", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGF2BP3", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "10643", "url": "https://www.ncbi.nlm.nih.gov/gene/10643", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "28868", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=28868", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "O00425", "url": "https://www.ebi.ac.uk/intact/interactors/id:O00425*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR000504", "url": "https://www.ebi.ac.uk/interpro/entry/IPR000504", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR004087", "url": "https://www.ebi.ac.uk/interpro/entry/IPR004087", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR004088", "url": "https://www.ebi.ac.uk/interpro/entry/IPR004088", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR012677", "url": "https://www.ebi.ac.uk/interpro/entry/IPR012677", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR035979", "url": "https://www.ebi.ac.uk/interpro/entry/IPR035979", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036612", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036612", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:10643", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:10643", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "608259", "url": "http://www.omim.org/entry/608259", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O00425", "url": "https://www.nextprot.org/entry/NX_O00425", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "O00425", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O00425", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "SYETQEQ", "url": "https://omabrowser.org/oma/group/SYETQEQ/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "3035007at2759", "url": "http://www.orthodb.org/?query=3035007at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR10288", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10288", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR10288:SF158", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10288:SF158", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "2E44", "url": "https://www.rcsb.org/structure/2E44", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6FQ1", "url": "https://www.rcsb.org/structure/6FQ1", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6FQR", "url": "https://www.rcsb.org/structure/6FQR", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6GQE", "url": "https://www.rcsb.org/structure/6GQE", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6GX6", "url": "https://www.rcsb.org/structure/6GX6", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF00013", "url": "http://pfam.xfam.org/family/PF00013", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF00076", "url": "http://pfam.xfam.org/family/PF00076", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O00425", "url": "https://pharos.nih.gov/targets/O00425", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O00425", "url": "http://purl.obolibrary.org/obo/PR_O00425", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-428359", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-428359", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_006538", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006538", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "F8WD15", "url": "https://www.uniprot.org/uniprot/F8WD15", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8WD15-1", "url": "https://www.uniprot.org/uniprot/F8WD15-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O00425", "url": "https://www.uniprot.org/uniprot/O00425", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O00425-1", "url": "https://www.uniprot.org/uniprot/O00425-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O00425-2", "url": "https://www.uniprot.org/uniprot/O00425-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MNKLYIGNLSENAAPSDLESIFKDAKIPVSGPFLVKTGYAFVDCPDESWALKAIEALSGKIELHGKPIEVEHSVPKRQRIRKLQIRNIPPHLQWEVLDSLLVQYGVVESCEQVNTDSETAVVNVTYSSKDQARQALDKLNGFQLENFTLKVAYIPDEMAAQQNPLQQPRGRRGLGQRGSSRQGSPGSVSKQKPCDLPLRLLVPTQFVGAIIGKEGATIRNITKQTQSKIDVHRKENAGAAEKSITILSTPEGTSAACKSILEIMHKEAQDIKFTEEIPLKILAHNNFVGRLIGKEGRNLKKIEQDTDTKITISPLQELTLYNPERTITVKGNVETCAKAEEEIMKKIRESYENDIASMNLQAHLIPGLNLNALGLFPPTSGMPPPTSGPPSAMTPPYPQFEQSETETVHLFIPALSVGAIIGKQGQHIKQLSRFAGASIKIAPAEAPDAKVRMVIITGPPEAQFKAQGRIYGKIKEENFVSPKEEVKLEAHIRVPSFAAGRVIGKGGKTVNELQNLSSAEVVVPRDQTPDENDQVVVKITGHFYACQVAQRKIQEILTQVKQHQQQKALQSGPPQSRRK", "length": 579, "header": "sp|O00425-1|IF2B3_HUMAN Isoform 1 of Insulin-like growth factor 2 mRNA-binding protein 3 OS=Homo sapiens OX=9606 GN=IGF2BP3 PE=1 SV=2 CANONICAL=O00425-1" }, "isoforms": [ { "isoform_ac": "F8WD15-1", "url": "", "sequence": { "sequence": "MNKLYIGNLSENAAPSDLESIFKDAKIPVSGPFLVKTGYAFVDCPDESWALKAIEALSGKIELHGKPIEVEHSVPKRQSEH", "length": 81, "header": "tr|F8WD15-1|F8WD15_HUMAN Computationally mapped isoform of Insulin like growth factor 2 mRNA binding protein 3 OS=Homo sapiens OX=9606 GN=IGF2BP3 PE=1 SV=1 CANONICAL=O00425-1" }, "locus": { "chromosome": "7", "start_pos": 23470110, "end_pos": 23361591, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000421467.6", "url": "https://www.ensembl.org/id/ENST00000421467.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000395936.1", "url": "https://www.ensembl.org/id/ENSP00000395936.1" } ] } }, { "isoform_ac": "O00425-1", "url": "", "sequence": { "sequence": "MNKLYIGNLSENAAPSDLESIFKDAKIPVSGPFLVKTGYAFVDCPDESWALKAIEALSGKIELHGKPIEVEHSVPKRQRIRKLQIRNIPPHLQWEVLDSLLVQYGVVESCEQVNTDSETAVVNVTYSSKDQARQALDKLNGFQLENFTLKVAYIPDEMAAQQNPLQQPRGRRGLGQRGSSRQGSPGSVSKQKPCDLPLRLLVPTQFVGAIIGKEGATIRNITKQTQSKIDVHRKENAGAAEKSITILSTPEGTSAACKSILEIMHKEAQDIKFTEEIPLKILAHNNFVGRLIGKEGRNLKKIEQDTDTKITISPLQELTLYNPERTITVKGNVETCAKAEEEIMKKIRESYENDIASMNLQAHLIPGLNLNALGLFPPTSGMPPPTSGPPSAMTPPYPQFEQSETETVHLFIPALSVGAIIGKQGQHIKQLSRFAGASIKIAPAEAPDAKVRMVIITGPPEAQFKAQGRIYGKIKEENFVSPKEEVKLEAHIRVPSFAAGRVIGKGGKTVNELQNLSSAEVVVPRDQTPDENDQVVVKITGHFYACQVAQRKIQEILTQVKQHQQQKALQSGPPQSRRK", "length": 579, "header": "sp|O00425-1|IF2B3_HUMAN Isoform 1 of Insulin-like growth factor 2 mRNA-binding protein 3 OS=Homo sapiens OX=9606 GN=IGF2BP3 PE=1 SV=2 CANONICAL=O00425-1" }, "locus": { "chromosome": "7", "start_pos": 23470110, "end_pos": 23312365, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000258729.8", "url": "https://www.ensembl.org/id/ENST00000258729.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000258729.3", "url": "https://www.ensembl.org/id/ENSP00000258729.3" } ] } }, { "isoform_ac": "O00425-2", "url": "", "sequence": { "sequence": "MPPPTSGPPSAMTPPYPQFEQSETETVHLFIPALSVGAIIGKQGQHIKQLSRFAGASIKIAPAEAPDAKVRMVIITGPPEAQFKAQGRIYGKIKEENFVSPKEEVKLEAHIRVPSFAAGRVIGKGGKTVNELQNLSSAEVVVPRDQTPDENDQVVVKITGHFYACQVAQRKIQEILTQVKQHQQQKALQSGPPQSRRK", "length": 198, "header": "sp|O00425-2|IF2B3_HUMAN Isoform 2 of Insulin-like growth factor 2 mRNA-binding protein 3 OS=Homo sapiens OX=9606 GN=IGF2BP3 PE=1 SV=2 CANONICAL=O00425-1" }, "locus": { "chromosome": "7", "start_pos": 23342123, "end_pos": 23312365, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000619562.4", "url": "https://www.ensembl.org/id/ENST00000619562.4" }, { "database": "Ensembl Peptide", "id": "ENSP00000480267.1", "url": "https://www.ensembl.org/id/ENSP00000480267.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "O00425", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O00425" }, { "id": "33214551", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33214551" }, { "id": "35138101", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35138101" }, { "id": "30397120", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30397120" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "32119511", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32119511" }, { "id": "28510447", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28510447" }, { "id": "34229054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34229054" } ] } ], "phosphorylation": [ { "start_pos": 184, "end_pos": 184, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O00425", "url": "https://www.uniprot.org/uniprot/O00425" }, { "database": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" }, { "database": "iPTMnet", "id": "O00425", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00425" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser184" }, { "start_pos": 187, "end_pos": 187, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O00425", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00425" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" } ], "site_lbl": "Ser187" }, { "start_pos": 243, "end_pos": 243, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O00425", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00425" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser243" }, { "start_pos": 528, "end_pos": 528, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "O00425", "url": "https://www.uniprot.org/uniprot/O00425" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" }, { "database": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" }, { "database": "iPTMnet", "id": "O00425", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00425" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "phospho.ELM", "id": "O00425", "url": "http://phospho.elm.eu.org/byAccession/O00425.html" } ], "site_lbl": "Thr528" }, { "start_pos": 571, "end_pos": 571, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O00425", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00425" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser571" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Expression of the highly conserved RNA binding protein KOC in embryogenesis.", "journal": "Mech. Dev.", "date": "1999", "authors": "Mueller-Pillasch F, Pohl B, Wilda M, Lacher U, Beil M, Wallrapp C, Hameister H, Kn\u00f6chel W, Adler G, Gress T M", "evidence": [ { "database": "UniProtKB", "id": "O00425", "url": "https://www.uniprot.org/uniprot/O00425" } ], "reference": [ { "type": "PubMed", "id": "10525192", "url": "https://glygen.org/publication/PubMed/10525192" } ] }, { "title": "H19 RNA binds four molecules of insulin-like growth factor II mRNA-binding protein.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Runge S, Nielsen FC, Nielsen J, Lykke-Andersen J, Wewer UM, Christiansen J", "evidence": [ { "database": "Reactome", "id": "R-HSA-428359", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-428359" } ], "reference": [ { "type": "PubMed", "id": "10875929", "url": "https://glygen.org/publication/PubMed/10875929" } ] }, { "title": "Autoimmune responses to mRNA binding proteins p62 and Koc in diverse malignancies.", "journal": "Clin. Immunol.", "date": "2001", "authors": "Zhang J Y, Chan E K, Peng X X, Lu M, Wang X, Mueller F, Tan E M", "evidence": [ { "database": "UniProtKB", "id": "O00425", "url": "https://www.uniprot.org/uniprot/O00425" } ], "reference": [ { "type": "PubMed", "id": "11465943", "url": "https://glygen.org/publication/PubMed/11465943" } ] }, { "title": "A family of IGF-II mRNA binding proteins (IMP) involved in RNA trafficking.", "journal": "Scandinavian journal of clinical and laboratory investigation. Supplementum", "date": "2001", "authors": "Nielsen FC, Nielsen J, Christiansen J", "evidence": [ { "database": "Reactome", "id": "R-HSA-428359", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-428359" } ], "reference": [ { "type": "PubMed", "id": "11713986", "url": "https://glygen.org/publication/PubMed/11713986" } ] }, { "title": "Regulation of c-myc mRNA decay by translational pausing in a coding region instability determinant.", "journal": "Molecular and cellular biology", "date": "2002", "authors": "Lemm I, Ross J", "evidence": [ { "database": "Reactome", "id": "R-HSA-428359", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-428359" } ], "reference": [ { "type": "PubMed", "id": "12024010", "url": "https://glygen.org/publication/PubMed/12024010" } ] }, { "title": "Characterisation of the growth regulating gene IMP3, a candidate for Silver-Russell syndrome.", "journal": "J. Med. Genet.", "date": "2002", "authors": "Monk D, Bentley L, Beechey C, Hitchins M, Peters J, Preece M A, Stanier P, Moore G E", "evidence": [ { "database": "UniProtKB", "id": "O00425", "url": "https://www.uniprot.org/uniprot/O00425" } ], "reference": [ { "type": "PubMed", "id": "12161597", "url": "https://glygen.org/publication/PubMed/12161597" } ] }, { "title": "CRD-BP: a c-Myc mRNA stabilizing protein with an oncofetal pattern of expression.", "journal": "Anticancer research", "date": "2003", "authors": "Ioannidis P, Mahaira L, Papadopoulou A, Teixeira MR, Heim S, Andersen JA, Evangelou E, Dafni U, Pandis N, Trangas T", "evidence": [ { "database": "Reactome", "id": "R-HSA-428359", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-428359" } ], "reference": [ { "type": "PubMed", "id": "12894594", "url": "https://glygen.org/publication/PubMed/12894594" } ] }, { "title": "Nuclear transit of human zipcode-binding protein IMP1.", "journal": "Biochem. J.", "date": "2003", "authors": "Nielsen J, Adolph SK, Rajpert-De Meyts E, Lykke-Andersen J, Koch G, Christiansen J, Nielsen FC", "evidence": [ { "database": "UniProtKB", "id": "O00425", "url": "https://www.uniprot.org/uniprot/O00425" } ], "reference": [ { "type": "PubMed", "id": "12921532", "url": "https://glygen.org/publication/PubMed/12921532" } ] }, { "title": "VICKZ proteins: a multi-talented family of regulatory RNA-binding proteins.", "journal": "Biol. Cell", "date": "2005", "authors": "Yisraeli JK", "evidence": [ { "database": "UniProtKB", "id": "O00425", "url": "https://www.uniprot.org/uniprot/O00425" }, { "database": "Reactome", "id": "R-HSA-428359", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-428359" } ], "reference": [ { "type": "PubMed", "id": "15601260", "url": "https://glygen.org/publication/PubMed/15601260" } ] }, { "title": "KOC (K homology domain containing protein overexpressed in cancer): a novel molecular marker that distinguishes between benign and malignant lesions of the pancreas.", "journal": "Diagn. Mol. Pathol.", "date": "2005", "authors": "Yantiss Rhonda K, Woda Bruce A, Fanger Gary R, Kalos M, Whalen Giles F, Tada Hiroomi, Andersen Dana K, Rock Kenneth L, Dresser Karen", "evidence": [ { "database": "UniProtKB", "id": "O00425", "url": "https://www.uniprot.org/uniprot/O00425" } ], "reference": [ { "type": "PubMed", "id": "15644775", "url": "https://glygen.org/publication/PubMed/15644775" } ] }, { "title": "Expression of IGF-II mRNA-binding proteins (IMPs) in gonads and testicular cancer.", "journal": "Reproduction", "date": "2005", "authors": "Hammer Niels A, Hansen Thomas v O, Byskov Anne Grete, Rajpert-De Meyts Eva, Gr\u00f8ndahl Marie Louise, Bredkjaer Helle E, Wewer Ulla M, Christiansen Jan, Nielsen Finn C", "evidence": [ { "database": "UniProtKB", "id": "O00425", "url": "https://www.uniprot.org/uniprot/O00425" } ], "reference": [ { "type": "PubMed", "id": "16049158", "url": "https://glygen.org/publication/PubMed/16049158" } ] }, { "title": "RNA-binding IMPs promote cell adhesion and invadopodia formation.", "journal": "The EMBO journal", "date": "2006", "authors": "Vikesaa J, Hansen TV, Jonson L, Borup R, Wewer UM, Christiansen J, Nielsen FC", "evidence": [ { "database": "UniProtKB", "id": "O00425", "url": "https://www.uniprot.org/uniprot/O00425" }, { "database": "Reactome", "id": "R-HSA-428359", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-428359" } ], "reference": [ { "type": "PubMed", "id": "16541107", "url": "https://glygen.org/publication/PubMed/16541107" } ] }, { "title": "CRD-BP mediates stabilization of betaTrCP1 and c-myc mRNA in response to beta-catenin signalling.", "journal": "Nature", "date": "2006", "authors": "Noubissi FK, Elcheva I, Bhatia N, Shakoori A, Ougolkov A, Liu J, Minamoto T, Ross J, Fuchs SY, Spiegelman VS", "evidence": [ { "database": "Reactome", "id": "R-HSA-428359", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-428359" } ], "reference": [ { "type": "PubMed", "id": "16778892", "url": "https://glygen.org/publication/PubMed/16778892" } ] }, { "title": "Analysis of RNA-binding protein IMP3 to predict metastasis and prognosis of renal-cell carcinoma: a retrospective study.", "journal": "Lancet Oncol.", "date": "2006", "authors": "Jiang Zhong, Chu Peigou G, Woda Bruce A, Rock Kenneth L, Liu Qin, Hsieh Chung-Cheng, Li Cuizhen, Chen Wengang, Duan Hai Ou, McDougal Scott, Wu Chin-Lee", "evidence": [ { "database": "UniProtKB", "id": "O00425", "url": "https://www.uniprot.org/uniprot/O00425" } ], "reference": [ { "type": "PubMed", "id": "16814207", "url": "https://glygen.org/publication/PubMed/16814207" } ] }, { "title": "IMP3 is a novel biomarker for adenocarcinoma in situ of the uterine cervix: an immunohistochemical study in comparison with p16(INK4a) expression.", "journal": "Mod. Pathol.", "date": "2007", "authors": "Li Cuizhen, Rock Kenneth L, Woda Bruce A, Jiang Zhong, Fraire Armando E, Dresser Karen", "evidence": [ { "database": "UniProtKB", "id": "O00425", "url": "https://www.uniprot.org/uniprot/O00425" } ], "reference": [ { "type": "PubMed", "id": "17192788", "url": "https://glygen.org/publication/PubMed/17192788" } ] }, { "title": "Molecular composition of IMP1 ribonucleoprotein granules.", "journal": "Mol. Cell. Proteomics", "date": "2007", "authors": "Jonson L, Vikesaa J, Krogh A, Nielsen LK, Hansen Tv, Borup R, Johnsen AH, Christiansen J, Nielsen FC", "evidence": [ { "database": "UniProtKB", "id": "O00425", "url": "https://www.uniprot.org/uniprot/O00425" } ], "reference": [ { "type": "PubMed", "id": "17289661", "url": "https://glygen.org/publication/PubMed/17289661" } ] }, { "title": "VICKZ proteins mediate cell migration via their RNA binding activity.", "journal": "RNA (New York, N.Y.)", "date": "2007", "authors": "Oberman F, Rand K, Maizels Y, Rubinstein AM, Yisraeli JK", "evidence": [ { "database": "Reactome", "id": "R-HSA-428359", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-428359" } ], "reference": [ { "type": "PubMed", "id": "17652133", "url": "https://glygen.org/publication/PubMed/17652133" } ] }, { "title": "Variants of CDKAL1 and IGF2BP2 affect first-phase insulin secretion during hyperglycaemic clamps.", "journal": "Diabetologia", "date": "2008", "authors": "Groenewoud MJ, Dekker JM, Fritsche A, Reiling E, Nijpels G, Heine RJ, Maassen JA, Machicao F, Schafer SA, Haring HU, 't Hart LM, van Haeften TW", "evidence": [ { "database": "Reactome", "id": "R-HSA-428359", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-428359" } ], "reference": [ { "type": "PubMed", "id": "18618095", "url": "https://glygen.org/publication/PubMed/18618095" } ] }, { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "iPTMnet", "id": "O00425-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00425-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Control of c-myc mRNA stability by IGF2BP1-associated cytoplasmic RNPs.", "journal": "RNA (New York, N.Y.)", "date": "2009", "authors": "Weidensdorfer D, Stohr N, Baude A, Lederer M, Kohn M, Schierhorn A, Buchmeier S, Wahle E, Huttelmaier S", "evidence": [ { "database": "Reactome", "id": "R-HSA-428359", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-428359" } ], "reference": [ { "type": "PubMed", "id": "19029303", "url": "https://glygen.org/publication/PubMed/19029303" } ] }, { "title": "IGF2 mRNA-binding protein 2: biological function and putative role in type 2 diabetes.", "journal": "Journal of molecular endocrinology", "date": "2009", "authors": "Christiansen J, Kolte AM, Hansen Tv, Nielsen FC", "evidence": [ { "database": "Reactome", "id": "R-HSA-428359", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-428359" } ], "reference": [ { "type": "PubMed", "id": "19429674", "url": "https://glygen.org/publication/PubMed/19429674" } ] }, { "title": "Global effects of kinase inhibitors on signaling networks revealed by quantitative phosphoproteomics.", "journal": "Molecular & cellular proteomics : MCP", "date": "2009", "authors": "Pan C, Olsen JV, Daub H, Mann M", "evidence": [ { "database": "iPTMnet", "id": "O00425-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00425-1" } ], "reference": [ { "type": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" } ] }, { "title": "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.", "journal": "Science signaling", "date": "2009", "authors": "Mayya V, Lundgren DH, Hwang SI, Rezaul K, Wu L, Eng JK, Rodionov V, Han DK", "evidence": [ { "database": "UniProtKB", "id": "O00425", "url": "https://www.uniprot.org/uniprot/O00425" }, { "database": "iPTMnet", "id": "O00425", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00425" } ], "reference": [ { "type": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "iPTMnet", "id": "O00425-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00425-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "title": "ZBP1 recognition of beta-actin zipcode induces RNA looping.", "journal": "Genes Dev.", "date": "2010", "authors": "Chao JA, Patskovsky Y, Patel V, Levy M, Almo SC, Singer RH", "evidence": [ { "database": "UniProtKB", "id": "O00425", "url": "https://www.uniprot.org/uniprot/O00425" }, { "database": "Reactome", "id": "R-HSA-428359", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-428359" } ], "reference": [ { "type": "PubMed", "id": "20080952", "url": "https://glygen.org/publication/PubMed/20080952" } ] }, { "title": "Transcriptome-wide identification of RNA-binding protein and microRNA target sites by PAR-CLIP.", "journal": "Cell", "date": "2010", "authors": "Hafner M, Landthaler M, Burger L, Khorshid M, Hausser J, Berninger P, Rothballer A, Ascano M Jr, Jungkamp AC, Munschauer M, Ulrich A, Wardle GS, Dewell S, Zavolan M, Tuschl T", "evidence": [ { "database": "Reactome", "id": "R-HSA-428359", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-428359" } ], "reference": [ { "type": "PubMed", "id": "20371350", "url": "https://glygen.org/publication/PubMed/20371350" } ] }, { "title": "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.", "journal": "Science signaling", "date": "2011", "authors": "Rigbolt KT, Prokhorova TA, Akimov V, Henningsen J, Johansen PT, Kratchmarova I, Kassem M, Mann M, Olsen JV, Blagoev B", "evidence": [ { "database": "UniProtKB", "id": "O00425", "url": "https://www.uniprot.org/uniprot/O00425" }, { "database": "iPTMnet", "id": "O00425", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00425" } ], "reference": [ { "type": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" } ] }, { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "O00425", "url": "https://www.uniprot.org/uniprot/O00425" }, { "database": "iPTMnet", "id": "O00425", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00425" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "Subcellular localization and RNP formation of IGF2BPs (IGF2 mRNA-binding proteins) is modulated by distinct RNA-binding domains.", "journal": "Biological chemistry", "date": "2013", "authors": "Wachter K, Kohn M, Stohr N, Huttelmaier S", "evidence": [ { "database": "UniProtKB", "id": "O00425", "url": "https://www.uniprot.org/uniprot/O00425" } ], "reference": [ { "type": "PubMed", "id": "23640942", "url": "https://glygen.org/publication/PubMed/23640942" } ] }, { "title": "Uncovering global SUMOylation signaling networks in a site-specific manner.", "journal": "Nat. Struct. Mol. Biol.", "date": "2014", "authors": "Hendriks IA, D'Souza RC, Yang B, Verlaan-de Vries M, Mann M, Vertegaal AC", "evidence": [ { "database": "UniProtKB", "id": "O00425", "url": "https://www.uniprot.org/uniprot/O00425" } ], "reference": [ { "type": "PubMed", "id": "25218447", "url": "https://glygen.org/publication/PubMed/25218447" } ] }, { "title": "Enhanced IMP3 Expression Activates NF-small ka, CyrillicB Pathway and Promotes Renal Cell Carcinoma Progression.", "journal": "PloS one", "date": "2015", "authors": "Pei X, Li M, Zhan J, Yu Y, Wei X, Guan L, Aydin H, Elson P, Zhou M, He H, Zhang H", "evidence": [ { "database": "GlyGen", "id": "A0377", "url": "https://data.glygen.org/GLY_000625" } ], "reference": [ { "type": "PubMed", "id": "25919292", "url": "https://glygen.org/publication/PubMed/25919292" } ] }, { "title": "Synthesis of a Highly Azide-Reactive and Thermosensitive Biofunctional Reagent for Efficient Enrichment and Large-Scale Identification of O-GlcNAc Proteins by Mass Spectrometry.", "journal": "Analytical chemistry", "date": "2017", "authors": "Zhang W, Liu T, Dong H, Bai H, Tian F, Shi Z, Chen M, Wang J, Qin W, Qian X", "evidence": [ { "database": "O-GlcNAc Database", "id": "O00425", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O00425" } ], "reference": [ { "type": "PubMed", "id": "28510447", "url": "https://glygen.org/publication/PubMed/28510447" } ] }, { "title": "Recognition of RNA N(6)-methyladenosine by IGF2BP proteins enhances mRNA stability and translation.", "journal": "Nature cell biology", "date": "2018", "authors": "Huang H, Weng H, Sun W, Qin X, Shi H, Wu H, Zhao BS, Mesquita A, Liu C, Yuan CL, Hu YC, Huttelmaier S, Skibbe JR, Su R, Deng X, Dong L, Sun M, Li C, Nachtergaele S, Wang Y, Hu C, Ferchen K, Greis KD, Jiang X, Wei M, Qu L, Guan JL, He C, Yang J, Chen J", "evidence": [ { "database": "UniProtKB", "id": "O00425", "url": "https://www.uniprot.org/uniprot/O00425" } ], "reference": [ { "type": "PubMed", "id": "29476152", "url": "https://glygen.org/publication/PubMed/29476152" } ] }, { "title": "Combinatorial regulation of hepatic cytoplasmic signaling and nuclear transcriptional events by the OGT/REV-ERBalpha complex.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2018", "authors": "Berthier A, Vinod M, Porez G, Steenackers A, Alexandre J, Yamakawa N, Gheeraert C, Ploton M, Marechal X, Dubois-Chevalier J, Hovasse A, Schaeffer-Reiss C, Cianferani S, Rolando C, Bray F, Duez H, Eeckhoute J, Lefebvre T, Staels B, Lefebvre P", "evidence": [ { "database": "O-GlcNAc Database", "id": "O00425", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O00425" } ], "reference": [ { "type": "PubMed", "id": "30397120", "url": "https://glygen.org/publication/PubMed/30397120" } ] }, { "title": "Circulating and tissue IMP3 levels are correlated with poor survival in renal cell carcinoma.", "journal": "International journal of cancer", "date": "2019", "authors": "Tschirdewahn S, Panic A, Pullen L, Harke NN, Hadaschik B, Riesz P, Horvath A, Szalontai J, Nyirady P, Baba HA, Reis H, Szarvas T", "evidence": [ { "database": "GlyGen", "id": "A0377", "url": "https://data.glygen.org/GLY_000625" } ], "reference": [ { "type": "PubMed", "id": "30650187", "url": "https://glygen.org/publication/PubMed/30650187" } ] }, { "title": "Engineering a Proximity-Directed O-GlcNAc Transferase for Selective Protein O-GlcNAcylation in Cells.", "journal": "ACS chemical biology", "date": "2020", "authors": "Ramirez DH, Aonbangkhen C, Wu HY, Naftaly JA, Tang S, O'Meara TR, Woo CM", "evidence": [ { "database": "O-GlcNAc Database", "id": "O00425", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O00425" } ], "reference": [ { "type": "PubMed", "id": "32119511", "url": "https://glygen.org/publication/PubMed/32119511" } ] }, { "title": "Proteomic profiling and genome-wide mapping of O-GlcNAc chromatin-associated proteins reveal an O-GlcNAc-regulated genotoxic stress response.", "journal": "Nature communications", "date": "2020", "authors": "Liu Y, Chen Q, Zhang N, Zhang K, Dou T, Cao Y, Liu Y, Li K, Hao X, Xie X, Li W, Ren Y, Zhang J", "evidence": [ { "database": "O-GlcNAc Database", "id": "O00425", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O00425" } ], "reference": [ { "type": "PubMed", "id": "33214551", "url": "https://glygen.org/publication/PubMed/33214551" } ] }, { "title": "O-GlcNAc modification regulates MTA1 transcriptional activity during breast cancer cell genotoxic adaptation.", "journal": "Biochimica et biophysica acta. General subjects", "date": "2021", "authors": "Xie X, Wu Q, Zhang K, Liu Y, Zhang N, Chen Q, Wang L, Li W, Zhang J, Liu Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "O00425", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O00425" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "Synthesis of Na2S2O4 mediated cleavable affinity tag for labeling of O-GlcNAc modified proteins via azide-alkyne cycloaddition.", "journal": "Bioorganic & medicinal chemistry letters", "date": "2021", "authors": "Wang J, Dou B, Zheng L, Cao W, Zeng X, Wen Y, Ma J, Li X", "evidence": [ { "database": "O-GlcNAc Database", "id": "O00425", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O00425" } ], "reference": [ { "type": "PubMed", "id": "34229054", "url": "https://glygen.org/publication/PubMed/34229054" } ] }, { "title": "Spatiotemporal Activation of Protein O-GlcNAcylation in Living Cells.", "journal": "Journal of the American Chemical Society", "date": "2022", "authors": "He J, Fan Z, Tian Y, Yang W, Zhou Y, Zhu Q, Zhang W, Qin W, Yi W", "evidence": [ { "database": "O-GlcNAc Database", "id": "O00425", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O00425" } ], "reference": [ { "type": "PubMed", "id": "35138101", "url": "https://glygen.org/publication/PubMed/35138101" } ] }, { "title": "RNA N6-methyladenosine reader IGF2BP3 promotes acute myeloid leukemia progression by controlling stabilization of EPOR mRNA.", "journal": "PeerJ", "date": "2023", "authors": "Fan Jin, Zhuang Mengqi, Fan Wei, Hou Ming", "evidence": [ { "database": "RefSeq", "id": "NP_006538", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006538" } ], "reference": [ { "type": "PubMed", "id": "37663284", "url": "https://glygen.org/publication/PubMed/37663284" } ] }, { "title": "IGF2BP3 mediates the mRNA degradation of NF1 to promote triple-negative breast cancer progression via an m6A-dependent manner.", "journal": "Clinical and translational medicine", "date": "2023-09", "authors": "Zhang Xu, Shi Liang, Sun Han-Dong, Wang Zi-Wen, Xu Feng, Wei Ji-Fu, Ding Qiang", "evidence": [ { "database": "RefSeq", "id": "NP_006538", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006538" } ], "reference": [ { "type": "PubMed", "id": "37743642", "url": "https://glygen.org/publication/PubMed/37743642" } ] }, { "title": "The m6A reader IGF2BP3 preserves NOTCH3 mRNA stability to sustain Notch3 signaling and promote tumor metastasis in nasopharyngeal carcinoma.", "journal": "Oncogene", "date": "2023-11", "authors": "Chen Boyu, Huang Runda, Xia Tianliang, Wang Chunyang, Xiao Xiao, Lu Shunzhen, Chen Xiangfu, Ouyang Ying, Deng Xiaowu, Miao Jingjing, Zhao Chong, Wang Lin", "evidence": [ { "database": "RefSeq", "id": "NP_006538", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006538" } ], "reference": [ { "type": "PubMed", "id": "37853162", "url": "https://glygen.org/publication/PubMed/37853162" } ] }, { "title": "Parkin regulates IGF2BP3 through ubiquitination in the tumourigenesis of cervical cancer.", "journal": "Clinical and translational medicine", "date": "2023-10", "authors": "Sun Xin, Ye Guiqin, Li Jiuzhou, Shou Huafeng, Bai Gongxun, Zhang Jianbin", "evidence": [ { "database": "RefSeq", "id": "NP_006538", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006538" } ], "reference": [ { "type": "PubMed", "id": "37877353", "url": "https://glygen.org/publication/PubMed/37877353" } ] }, { "title": "circRARS synergises with IGF2BP3 to regulate RNA methylation recognition to promote tumour progression in renal cell carcinoma.", "journal": "Clinical and translational medicine", "date": "2023-12", "authors": "Liu Yuenan, Chen Kailei, Shou Yi, Li Sen, Wang Jun, Zhang Qingyang, Huang Ziwei, Xu Jiaju, Li Mingfeng, Liu Di, Liang Huageng, Yang Hongmei, Zhang Xiaoping", "evidence": [ { "database": "RefSeq", "id": "NP_006538", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006538" } ], "reference": [ { "type": "PubMed", "id": "38073586", "url": "https://glygen.org/publication/PubMed/38073586" } ] }, { "title": "Cloning of a gene highly overexpressed in cancer coding for a novel KH-domain containing protein.", "journal": "Oncogene", "date": "1997", "authors": "Mueller-Pillasch F, Lacher U, Wallrapp C, Micha A, Zimmerhackl F, Hameister H, Varga G, Friess H, Buchler M, Beger HG, Vila MR, Adler G, Gress TM", "evidence": [ { "database": "UniProtKB", "id": "O00425", "url": "https://www.uniprot.org/uniprot/O00425" } ], "reference": [ { "type": "PubMed", "id": "9178771", "url": "https://glygen.org/publication/PubMed/9178771" } ] }, { "title": "A family of insulin-like growth factor II mRNA-binding proteins represses translation in late development.", "journal": "Mol. Cell. Biol.", "date": "1999", "authors": "Nielsen J, Christiansen J, Lykke-Andersen J, Johnsen AH, Wewer UM, Nielsen FC", "evidence": [ { "database": "UniProtKB", "id": "O00425", "url": "https://www.uniprot.org/uniprot/O00425" }, { "database": "Reactome", "id": "R-HSA-428359", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-428359" } ], "reference": [ { "type": "PubMed", "id": "9891060", "url": "https://glygen.org/publication/PubMed/9891060" } ] } ], "pathway": [ { "id": "hsa:10643", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:10643", "resource": "KEGG Pathway" }, { "id": "R-HSA-428359", "name": "Insulin-like Growth Factor-2 mRNA Binding Proteins (IGF2BPs/IMPs/VICKZs) bind RNA", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-428359", "resource": "Reactome", "description": "Insulin-like Growth Factor-2 mRNA Binding Proteins (IGF2BPs/IMPs/VICKZs) bind RNA" } ], "orthologs": [ { "uniprot_canonical_ac": "A0A0G2K0Y2-1", "protein_name": "Insulin-like growth factor 2 mRNA binding protein 3", "gene_name": "Igf2bp3", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MNKLYIGNLSDHAGPADLESVFKDAKIPVAGPFLVKTGYAFVDCPDEGWALKAIEALSGKMELHGKPMEVEHSVPKRQRIRKLQIRNIPPHLQWEVLDSLLVQYGVVESCEQVNTDSETAVVNVTYSSKDQARQALDKLNGFQLENFTLKVAYIPDETAAQQSPSPQLRGRRGPGQRGSSRQTSPGSVSKQKPCDLPLRLLVPTQFVGAIIGKEGATIRNITKQTQSKIDVHRKENTGAAEKSITILSTPEGTSAACKSILEIMHKEAQDIKFTEEIPLKILAHNNFVGRLIGKEGRNLKKIEQDTDTKITISPLQELTLYNPERTITVKGNVETCAKAEEEIMKKIRESYENDIASMNLQAHLIPGLNLNALGLFPPTSGMPPPTSGPPSAMTPPYPQFEQSETETVHLFIPALSVGAIIGKQGQHIKQLSRFAGASIKIAPAEAPDAKVRMVIITGPPEAQFKAQGRIYGKIKEENFVSPKEEVKLEAHIRVPSFAAGRVIGKGGKTVNELQNLSSAEVVVPRDQTPDENDQVVVKITGHFYACQVAQRKIQEILTQVKQHQQQKALQSGAPQSRRK", "length": 579 }, "evidence": [ { "id": "O00425", "url": "https://omabrowser.org/oma/group/O00425/", "database": "OMA" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q9CPN8-1", "protein_name": "Insulin-like growth factor 2 mRNA-binding protein 3", "gene_name": "Igf2bp3", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MNKLYIGNLSDHAGPADLESVFKDAKIPVAGPFLVKTGYAFVDCPDEGWALKAIEALSGKMELHGKPMEVEHSVPKRQRIRKLQIRNIPPHLQWEVLDSLLVQYGVVESCEQVNTDSETAVVNVTYSSKDQARQALDKLNGFQLENFTLKVAYIPDETAAQQNPSPQLRGRRGPGQRGSSRQASPGSVSKQKPCDLPLRLLVPTQFVGAIIGKEGATIRNITKQTQSKIDVHRKENTGAAEKSITILSTPEGTSAACKSILEIMHKEAQDIKFTEEIPLKILAHNNFVGRLIGKEGRNLKKIEQDTDTKITISPLQELTLYNPERTITVKGSVETCAKAEEEIMKKIRESYENDIASMNLQAHLIPGLNLNALGLFPPTSGMPPPTSGPPSTLTPPYPQFEQSETETVHLFIPALSVGAIIGKQGQHIKQLSRFAGASIKIAPAEAPDAKVRMVIITGPPEAQFKAQGRIYGKIKEENFVSPKEEVKLEAHIRVPSFAAGRVIGKGGKTVNELQSLSSAEVVVPRDQTPDENDQVVVKITGHFYACQVAQRKIQEILTQVKQHQQQKALQSGPPQSRRK", "length": 579 }, "evidence": [ { "id": "45917363", "url": "http://www.informatics.jax.org/homology/45917363", "database": "MGI" }, { "id": "O00425", "url": "https://omabrowser.org/oma/group/O00425/", "database": "OMA" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Biological Process", "total": 8, "go_terms": [ { "name": "CRD-mediated mRNA stabilization", "id": "GO:0070934", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070934", "evidence": [ { "database": "UniProtKB", "id": "O00425", "url": "https://www.uniprot.org/uniprot/O00425" } ], "pmid": "" }, { "name": "nervous system development", "id": "GO:0007399", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007399", "evidence": [ { "database": "UniProtKB", "id": "O00425", "url": "https://www.uniprot.org/uniprot/O00425" } ], "pmid": "" }, { "name": "regulation of cytokine production", "id": "GO:0001817", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001817", "evidence": [ { "database": "UniProtKB", "id": "O00425", "url": "https://www.uniprot.org/uniprot/O00425" } ], "pmid": "" }, { "name": "translation", "id": "GO:0006412", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006412", "evidence": [ { "database": "UniProtKB", "id": "O00425", "url": "https://www.uniprot.org/uniprot/O00425" } ], "pmid": "" }, { "name": "negative regulation of translation", "id": "GO:0017148", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017148", "evidence": [ { "database": "UniProtKB", "id": "O00425", "url": "https://www.uniprot.org/uniprot/O00425" } ], "pmid": "" }, { "name": "regulation of gene expression", "id": "GO:0010468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010468", "evidence": [ { "database": "UniProtKB", "id": "O00425", "url": "https://www.uniprot.org/uniprot/O00425" } ], "pmid": "" }, { "name": "anatomical structure morphogenesis", "id": "GO:0009653", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009653", "evidence": [ { "database": "UniProtKB", "id": "O00425", "url": "https://www.uniprot.org/uniprot/O00425" } ], "pmid": "" }, { "name": "mRNA transport", "id": "GO:0051028", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051028", "evidence": [ { "database": "UniProtKB", "id": "O00425", "url": "https://www.uniprot.org/uniprot/O00425" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 5, "go_terms": [ { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "O00425", "url": "https://www.uniprot.org/uniprot/O00425" } ], "pmid": "" }, { "name": "mRNA 3'-UTR binding", "id": "GO:0003730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003730", "evidence": [ { "database": "UniProtKB", "id": "O00425", "url": "https://www.uniprot.org/uniprot/O00425" } ], "pmid": "" }, { "name": "translation regulator activity", "id": "GO:0045182", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045182", "evidence": [ { "database": "UniProtKB", "id": "O00425", "url": "https://www.uniprot.org/uniprot/O00425" } ], "pmid": "" }, { "name": "mRNA 5'-UTR binding", "id": "GO:0048027", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048027", "evidence": [ { "database": "UniProtKB", "id": "O00425", "url": "https://www.uniprot.org/uniprot/O00425" } ], "pmid": "" }, { "name": "N6-methyladenosine-containing RNA reader activity", "id": "GO:1990247", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990247", "evidence": [ { "database": "UniProtKB", "id": "O00425", "url": "https://www.uniprot.org/uniprot/O00425" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 5, "go_terms": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "O00425", "url": "https://www.uniprot.org/uniprot/O00425" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "O00425", "url": "https://www.uniprot.org/uniprot/O00425" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "O00425", "url": "https://www.uniprot.org/uniprot/O00425" } ], "pmid": "" }, { "name": "P-body", "id": "GO:0000932", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000932", "evidence": [ { "database": "UniProtKB", "id": "O00425", "url": "https://www.uniprot.org/uniprot/O00425" } ], "pmid": "" }, { "name": "cytoplasmic stress granule", "id": "GO:0010494", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010494", "evidence": [ { "database": "UniProtKB", "id": "O00425", "url": "https://www.uniprot.org/uniprot/O00425" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 123, "end_pos": 125, "annotation": "n_glycosylation_sequon" }, { "start_pos": 146, "end_pos": 148, "annotation": "n_glycosylation_sequon" }, { "start_pos": 220, "end_pos": 222, "annotation": "n_glycosylation_sequon" }, { "start_pos": 515, "end_pos": 517, "annotation": "n_glycosylation_sequon" }, { "start_pos": 8, "end_pos": 10, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [ { "assessed_biomarker_entity": "Insulin-like growth factor 2 mRNA-binding protein 3 (IGF2BP3)", "biomarker_id": "A0377", "evidence": [ { "id": "GLY_000625", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000625" }, { "id": "30650187", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30650187" }, { "id": "25919292", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25919292" } ], "instances": [ { "best_biomarker_type": "prognostic", "status": "increased IGF2BP3 level", "disease": { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] }, "tissue": { "name": "kidney", "namespace": "UBERON", "id": "0002113", "url": "http://purl.obolibrary.org/obo/UBERON_0002113" }, "evidence": [ { "id": "GLY_000625", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000625" }, { "id": "30650187", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30650187" }, { "id": "25919292", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25919292" } ] } ] } ], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.oma", "label": "OMA Homologs" }, { "name": "homologset.mgi", "label": "MGI Homologs" } ], "sequence_features": { "n_linked_sites": [], "o_linked_sites": [], "snv_sites": [], "glycation_sites": [], "phosphorylation_sites": [ 184, 187, 243, 528, 571 ], "sequon_annotation_sites": [ { "start_pos": 123, "end_pos": 125 }, { "start_pos": 146, "end_pos": 148 }, { "start_pos": 220, "end_pos": 222 }, { "start_pos": 515, "end_pos": 517 }, { "start_pos": 8, "end_pos": 10 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment" ] }, { "table_id": "glycosylation_reported", "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_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment" ] }, { "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": 5 }, { "field": "total_sites", "count": 5 } ], "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": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "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": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 47 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }