{ "uniprot_canonical_ac": "P08151-1", "uniprot_ac": "P08151", "uniprot_id": "GLI1_HUMAN", "mass": { "chemical_mass": 117904.0, "monoisotopic_mass": 117904.0 }, "refseq": { "ac": "NP_001153517", "name": "zinc finger protein GLI1 isoform 2", "summary": "This gene encodes a member of the Kruppel family of zinc finger proteins. The encoded transcription factor is activated by the sonic hedgehog signal transduction cascade and regulates stem cell proliferation. The activity and nuclear localization of this protein is negatively regulated by p53 in an inhibitory loop. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001153517" }, "gene_names": [ { "name": "GLI1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P08151", "id": "P08151" }, { "name": "GLI1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001153517", "id": "NP_001153517" }, { "name": "GLI; PAPA8; PPD1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001153517", "id": "NP_001153517" }, { "name": "GLI", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P08151", "id": "P08151" } ], "protein_names": [ { "name": "Zinc finger protein GLI1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P08151" }, { "name": "Glioma-associated oncogene", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P08151" }, { "name": "Oncogene GLI", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P08151" }, { "name": "glioma-associated oncogene homolog 1 (zinc finger protein); glioma-associated oncogene 1; GLI-Kruppel family member GLI1; oncogene GLI", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001153517", "id": "NP_001153517" }, { "name": "zinc finger protein GLI1 isoform 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001153517", "id": "NP_001153517" } ], "function": [ { "annotation": "Acts as a transcriptional activator (PubMed:19706761, PubMed:10806483, PubMed:19878745, PubMed:24076122, PubMed:24311597, PubMed:24217340). Binds to the DNA consensus sequence 5'-GACCACCCA-3' (PubMed:2105456, PubMed:8378770, PubMed:24217340). Regulates the transcription of specific genes during normal development (PubMed:19706761). Plays a role in craniofacial development and digital development, as well as development of the central nervous system and gastrointestinal tract. Mediates SHH signaling (PubMed:19706761, PubMed:28973407). Plays a role in cell proliferation and differentiation via its role in SHH signaling (PubMed:11238441, PubMed:28973407).", "evidence": [ { "database": "UniProtKB", "id": "P08151", "url": "https://www.uniprot.org/uniprot/P08151#function" }, { "database": "PubMed", "id": "24217340", "url": "https://glygen.org/publication/PubMed/24217340" }, { "database": "PubMed", "id": "10806483", "url": "https://glygen.org/publication/PubMed/10806483" }, { "database": "PubMed", "id": "19878745", "url": "https://glygen.org/publication/PubMed/19878745" }, { "database": "PubMed", "id": "8378770", "url": "https://glygen.org/publication/PubMed/8378770" }, { "database": "PubMed", "id": "24076122", "url": "https://glygen.org/publication/PubMed/24076122" }, { "database": "PubMed", "id": "24311597", "url": "https://glygen.org/publication/PubMed/24311597" }, { "database": "PubMed", "id": "11238441", "url": "https://glygen.org/publication/PubMed/11238441" }, { "database": "PubMed", "id": "2105456", "url": "https://glygen.org/publication/PubMed/2105456" }, { "database": "PubMed", "id": "28973407", "url": "https://glygen.org/publication/PubMed/28973407" }, { "database": "PubMed", "id": "19706761", "url": "https://glygen.org/publication/PubMed/19706761" } ] }, { "annotation": "Acts as a transcriptional activator, but activates a different set of genes than isoform 1. Activates expression of CD24, unlike isoform 1. Mediates SHH signaling. Promotes cancer cell migration.", "evidence": [ { "database": "UniProtKB", "id": "P08151", "url": "https://www.uniprot.org/uniprot/P08151#function" }, { "database": "PubMed", "id": "19706761", "url": "https://glygen.org/publication/PubMed/19706761" } ] }, { "annotation": "FOXS1 promotes prostate cancer progression through the Hedgehog/Gli1 pathway. Erratum:[Biochem Pharmacol. 2023 Nov 21;218:115926. PMID: 37992588]", "evidence": [ { "database": "RefSeq", "id": "NP_001153517", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001153517" }, { "database": "PubMed", "id": "37890593", "url": "https://glygen.org/publication/PubMed/37890593" } ] }, { "annotation": "FUNDC2, a mitochondrial outer membrane protein, mediates triple-negative breast cancer progression via the AKT/GSK3beta/GLI1 pathway.", "evidence": [ { "database": "RefSeq", "id": "NP_001153517", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001153517" }, { "database": "PubMed", "id": "37700593", "url": "https://glygen.org/publication/PubMed/37700593" } ] }, { "annotation": "Gli1 promotes the phenotypic transformation of valve interstitial cells through Hedgehog pathway activation exacerbating calcific aortic valve disease. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001153517", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001153517" }, { "database": "PubMed", "id": "37151880", "url": "https://glygen.org/publication/PubMed/37151880" } ] }, { "annotation": "Identification of GLI1 and KIAA0825 Variants in Two Families with Postaxial Polydactyly. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001153517", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001153517" }, { "database": "PubMed", "id": "37107627", "url": "https://glygen.org/publication/PubMed/37107627" } ] }, { "annotation": "MALAT1 functions as a transcriptional promoter of MALAT1::GLI1 fusion for truncated GLI1 protein expression in cancer. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001153517", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001153517" }, { "database": "PubMed", "id": "37165307", "url": "https://glygen.org/publication/PubMed/37165307" } ] }, { "annotation": "This gene encodes a member of the Kruppel family of zinc finger proteins. The encoded transcription factor is activated by the sonic hedgehog signal transduction cascade and regulates stem cell proliferation. The activity and nuclear localization of this protein is negatively regulated by p53 in an inhibitory loop. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009].", "evidence": [ { "database": "RefSeq", "id": "NP_001153517", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001153517" } ] } ], "disease": [ { "disease_id": "MONDO:0008269", "recommended_name": { "id": "MONDO:0008269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008269", "name": "polydactyly of a biphalangeal thumb", "description": "Polydactyly of a biphalangeal thumb or PPD1 is the most common form of preaxial polydactyly of fingers, a limb malformation syndrome, that is characterized by the duplication of one or more skeletal components of a biphalangeal thumb. Hands are preferentially affected (in bilateral), and the right hand is more commonly involved than the left." }, "synonyms": [ { "id": "MONDO:0008269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008269", "name": "PPD1", "description": "" }, { "id": "MONDO:0008269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008269", "name": "polydactyly, preaxial type 1", "description": "" }, { "id": "MONDO:0008269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008269", "name": "preaxial polydactyly type 1", "description": "" }, { "id": "MONDO:0008269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008269", "name": "Fromont anomaly", "description": "" }, { "id": "MONDO:0008269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008269", "name": "polydactyly preaxial 1", "description": "" }, { "id": "MONDO:0008269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008269", "name": "polydactyly, preaxial 1", "description": "" }, { "id": "MONDO:0008269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008269", "name": "polydactyly, preaxial I", "description": "" }, { "id": "MONDO:0008269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008269", "name": "preaxial polydactyly 1", "description": "" }, { "id": "MONDO:0008269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008269", "name": "thenar hypoplasia", "description": "" }, { "id": "MONDO:0008269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008269", "name": "thumb polydactyly", "description": "" }, { "id": "MIM:174400", "resource": "MIM", "url": "https://www.omim.org/entry/174400", "name": "Polydactyly, preaxial 1", "description": "Polydactyly, preaxial 1" } ], "evidence": [ { "id": "174400", "database": "MIM", "url": "https://www.omim.org/entry/174400" } ] }, { "disease_id": "MONDO:0029130", "recommended_name": { "id": "MONDO:0029130", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0029130", "name": "polydactyly, postaxial, type A8", "description": "" }, "synonyms": [ { "id": "MONDO:0029130", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0029130", "name": "polydactyly, postaxial, type A8", "description": "" }, { "id": "MONDO:0029130", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0029130", "name": "PAPA8", "description": "" }, { "id": "MIM:618123", "resource": "MIM", "url": "https://www.omim.org/entry/618123", "name": "Polydactyly, postaxial, A8", "description": "Polydactyly, postaxial, A8" } ], "evidence": [ { "id": "618123", "database": "MIM", "url": "https://www.omim.org/entry/618123" } ] } ], "snv": [ { "evidence": [ { "id": "P08151", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P08151" } ], "glycoeffect": [], "start_pos": 637, "end_pos": 637, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "12", "chr_pos": "57470650", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R637", "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": "" } ] }, { "disease_id": "DOID:2394", "recommended_name": { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "ovarian cancer", "description": "A female reproductive organ cancer that is located_in the ovary." }, "synonyms": [ { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "malignant Ovarian tumor", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "malignant tumour of ovary", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "ovarian neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "ovary neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "primary ovarian cancer", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "tumor of the Ovary", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "OVCAS1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer", "description": "A primary or metastatic malignant neoplasm involving the ovary. Most primary malignant ovarian neoplasms are either carcinomas (serous, mucinous, or endometrioid adenocarcinomas) or malignant germ cell tumors. Metastatic malignant neoplasms to the ovary include carcinomas, lymphomas, and melanomas." }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovary neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumor of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumour of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "cancer of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "cancer of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant neoplasm of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant neoplasm of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian tumor", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian tumour", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovary neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumor of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumor of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumour of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumour of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer, somatic", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian malignant tumor", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian malignant tumour", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovary cancer", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer, epithelial", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "primary ovarian cancer", "description": "" }, { "id": "MIM:167000", "resource": "MIM", "url": "https://www.omim.org/entry/167000", "name": "Ovarian cancer", "description": "Ovarian cancer" } ] }, { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "62.56", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000111087", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000111087" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "62.75", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000111087", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000111087" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "68.64", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000111087", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000111087" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "82.87", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000111087", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000111087" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "74.02", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000111087", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000111087" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "81.28", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000111087", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000111087" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "68.31", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000111087", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000111087" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "73.63", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000111087", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000111087" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "71.2", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000111087", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000111087" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "66.68", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000111087", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000111087" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "55.09", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000111087", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000111087" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "80.35", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000111087", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000111087" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "70.19", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000111087", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000111087" } ] } ], "expression_disease": [ { "significant": "No", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P08151", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P08151" } ], "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": "P08151", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P08151" } ], "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": "down", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "P08151", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P08151" } ], "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": "P08151", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P08151" } ], "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": "P08151", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P08151" } ], "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": "down", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "P08151", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P08151" } ], "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": "P08151", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P08151" } ], "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": "P08151", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P08151" } ], "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": "P08151", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P08151" } ], "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": "down", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "P08151", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P08151" } ], "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ] }, { "significant": "No", "trend": "up", "name": "Esophageal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "P08151", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P08151" } ], "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": "No", "trend": "down", "name": "Colorectal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:9256", "evidence": [ { "database": "BioXpress", "id": "P08151", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P08151" } ], "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": "P08151", "url": "https://www.uniprot.org/uniprot/P08151" } ], "common_name": "Human" } ], "gene": [ { "name": "GLI1", "url": "https://www.uniprot.org/uniprot/P08151", "locus": { "chromosome": "12", "start_pos": 57472268, "end_pos": 57459785, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000111087", "url": "https://www.ensembl.org/id/ENSG00000111087" } ] } } ], "crossref": [ { "id": "ENSG00000111087", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000111087", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "P08151", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P08151", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "CHEMBL5461", "url": "https://www.ebi.ac.uk/chembldb/target/inspect/CHEMBL5461", "database": "ChEMBL", "categories": [ "Other" ] }, { "id": "GLI1", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=GLI1", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "2735", "url": "https://www.ncbi.nlm.nih.gov/gene/2735", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "4317", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=4317", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "P08151", "url": "https://www.ebi.ac.uk/intact/interactors/id:P08151*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR013087", "url": "https://www.ebi.ac.uk/interpro/entry/IPR013087", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036236", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036236", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR043359", "url": "https://www.ebi.ac.uk/interpro/entry/IPR043359", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:2735", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:2735", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "165220", "url": "http://www.omim.org/entry/165220", "database": "MIM", "categories": [ "Other" ] }, { "id": "174400", "url": "http://www.omim.org/entry/174400", "database": "MIM", "categories": [ "Other" ] }, { "id": "618123", "url": "http://www.omim.org/entry/618123", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_P08151", "url": "https://www.nextprot.org/entry/NX_P08151", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "P08151", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P08151", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "PFSHYPQ", "url": "https://omabrowser.org/oma/group/PFSHYPQ/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "3304552at2759", "url": "http://www.orthodb.org/?query=3304552at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR45718", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR45718", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR45718:SF2", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR45718:SF2", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "2GLI", "url": "https://www.rcsb.org/structure/2GLI", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4BLB", "url": "https://www.rcsb.org/structure/4BLB", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4KMD", "url": "https://www.rcsb.org/structure/4KMD", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5OM0", "url": "https://www.rcsb.org/structure/5OM0", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7T91", "url": "https://www.rcsb.org/structure/7T91", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF00096", "url": "http://pfam.xfam.org/family/PF00096", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "P08151", "url": "https://pharos.nih.gov/targets/P08151", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_P08151", "url": "http://purl.obolibrary.org/obo/PR_P08151", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-5610780", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610780", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-5632684", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5632684", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-5635851", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5635851", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_001153517", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001153517", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "E9PIB9", "url": "https://www.uniprot.org/uniprot/E9PIB9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PIB9-1", "url": "https://www.uniprot.org/uniprot/E9PIB9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PQQ1", "url": "https://www.uniprot.org/uniprot/E9PQQ1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PQQ1-1", "url": "https://www.uniprot.org/uniprot/E9PQQ1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P08151", "url": "https://www.uniprot.org/uniprot/P08151", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P08151-1", "url": "https://www.uniprot.org/uniprot/P08151-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P08151-2", "url": "https://www.uniprot.org/uniprot/P08151-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P08151-3", "url": "https://www.uniprot.org/uniprot/P08151-3", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MFNSMTPPPISSYGEPCCLRPLPSQGAPSVGTEGLSGPPFCHQANLMSGPHSYGPARETNSCTEGPLFSSPRSAVKLTKKRALSISPLSDASLDLQTVIRTSPSSLVAFINSRCTSPGGSYGHLSIGTMSPSLGFPAQMNHQKGPSPSFGVQPCGPHDSARGGMIPHPQSRGPFPTCQLKSELDMLVGKCREEPLEGDMSSPNSTGIQDPLLGMLDGREDLEREEKREPESVYETDCRWDGCSQEFDSQEQLVHHINSEHIHGERKEFVCHWGGCSRELRPFKAQYMLVVHMRRHTGEKPHKCTFEGCRKSYSRLENLKTHLRSHTGEKPYMCEHEGCSKAFSNASDRAKHQNRTHSNEKPYVCKLPGCTKRYTDPSSLRKHVKTVHGPDAHVTKRHRGDGPLPRAPSISTVEPKREREGGPIREESRLTVPEGAMKPQPSPGAQSSCSSDHSPAGSAANTDSGVEMTGNAGGSTEDLSSLDEGPCIAGTGLSTLRRLENLRLDQLHQLRPIGTRGLKLPSLSHTGTTVSRRVGPPVSLERRSSSSSSISSAYTVSRRSSLASPFPPGSPPENGASSLPGLMPAQHYLLRARYASARGGGTSPTAASSLDRIGGLPMPPWRSRAEYPGYNPNAGVTRRASDPAQAADRPAPARVQRFKSLGCVHTPPTVAGGGQNFDPYLPTSVYSPQPPSITENAAMDARGLQEEPEVGTSMVGSGLNPYMDFPPTDTLGYGGPEGAAAEPYGARGPGSLPLGPGPPTNYGPNPCPQQASYPDPTQETWGEFPSHSGLYPGPKALGGTYSQCPRLEHYGQVQVKPEQGCPVGSDSTGLAPCLNAHPSEGPPHPQPLFSHYPQPSPPQYLQSGPYTQPPPDYLPSEPRPCLDFDSPTHSTGQLKAQLVCNYVQSQQELLWEGGGREDAPAQEPSYQSPKFLGGSQVSPSRAKAPVNTYGPGFGPNLPNHKSGSYPTPSPCHENFVVGANRASHRAAAPPRLLPPLPTCYGPLKVGGTNPSCGHPEVGRLGGGPALYPPPEGQVCNPLDSLDLDNTQLDFVAILDEPQGLSPPPSHDQRGSSGHTPPPSGPPNMAVGNMSVLLRSLPGETEFLNSSA", "length": 1106, "header": "sp|P08151-1|GLI1_HUMAN Isoform 1 of Zinc finger protein GLI1 OS=Homo sapiens OX=9606 GN=GLI1 PE=1 SV=1 CANONICAL=P08151-1" }, "isoforms": [ { "isoform_ac": "E9PIB9-1", "url": "", "sequence": { "sequence": "MSPSLGFPAQMNHQKGPSPSFGVQPCGPHDSARGGMIPHPQSRGPFPTCQLKSELDMLVGKCREEPLEGDMSSPNSTGIQDPLLGMLDGREDLEREEKREPESVYETDCRWDGCSQEFDSQEQLVHHINSEHIHGERKEFVCHWGGCSRELRPFKAQYMLVVHMRRHTGEKPHKC", "length": 175, "header": "tr|E9PIB9-1|E9PIB9_HUMAN Computationally mapped isoform of GLI family zinc finger 1 OS=Homo sapiens OX=9606 GN=GLI1 PE=3 SV=1 CANONICAL=P08151-1" }, "locus": { "chromosome": "12", "start_pos": 57466386, "end_pos": 57464864, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000532291.5", "url": "https://www.ensembl.org/id/ENST00000532291.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000436671.1", "url": "https://www.ensembl.org/id/ENSP00000436671.1" } ] } }, { "isoform_ac": "E9PQQ1-1", "url": "", "sequence": { "sequence": "MFNSMTPPPISSYGEPCCLRPLPSQGAPSVGTEGLSGPPFCHQANLMSGPHSYGPARETNSCTEGPLFSSPRSAVKLTKKRALSISPLSDASLDLQTVIRTSPSSLVAFINSRCTSPGGSYGHLSIGTM", "length": 129, "header": "tr|E9PQQ1-1|GLI1_HUMAN Computationally mapped isoform of Zinc finger protein GLI1 OS=Homo sapiens OX=9606 GN=GLI1 PE=1 SV=1 CANONICAL=P08151-1" }, "locus": { "chromosome": "12", "start_pos": 57464866, "end_pos": 57463692, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000528432.1", "url": "https://www.ensembl.org/id/ENST00000528432.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000434421.1", "url": "https://www.ensembl.org/id/ENSP00000434421.1" } ] } }, { "isoform_ac": "P08151-1", "url": "", "sequence": { "sequence": "MFNSMTPPPISSYGEPCCLRPLPSQGAPSVGTEGLSGPPFCHQANLMSGPHSYGPARETNSCTEGPLFSSPRSAVKLTKKRALSISPLSDASLDLQTVIRTSPSSLVAFINSRCTSPGGSYGHLSIGTMSPSLGFPAQMNHQKGPSPSFGVQPCGPHDSARGGMIPHPQSRGPFPTCQLKSELDMLVGKCREEPLEGDMSSPNSTGIQDPLLGMLDGREDLEREEKREPESVYETDCRWDGCSQEFDSQEQLVHHINSEHIHGERKEFVCHWGGCSRELRPFKAQYMLVVHMRRHTGEKPHKCTFEGCRKSYSRLENLKTHLRSHTGEKPYMCEHEGCSKAFSNASDRAKHQNRTHSNEKPYVCKLPGCTKRYTDPSSLRKHVKTVHGPDAHVTKRHRGDGPLPRAPSISTVEPKREREGGPIREESRLTVPEGAMKPQPSPGAQSSCSSDHSPAGSAANTDSGVEMTGNAGGSTEDLSSLDEGPCIAGTGLSTLRRLENLRLDQLHQLRPIGTRGLKLPSLSHTGTTVSRRVGPPVSLERRSSSSSSISSAYTVSRRSSLASPFPPGSPPENGASSLPGLMPAQHYLLRARYASARGGGTSPTAASSLDRIGGLPMPPWRSRAEYPGYNPNAGVTRRASDPAQAADRPAPARVQRFKSLGCVHTPPTVAGGGQNFDPYLPTSVYSPQPPSITENAAMDARGLQEEPEVGTSMVGSGLNPYMDFPPTDTLGYGGPEGAAAEPYGARGPGSLPLGPGPPTNYGPNPCPQQASYPDPTQETWGEFPSHSGLYPGPKALGGTYSQCPRLEHYGQVQVKPEQGCPVGSDSTGLAPCLNAHPSEGPPHPQPLFSHYPQPSPPQYLQSGPYTQPPPDYLPSEPRPCLDFDSPTHSTGQLKAQLVCNYVQSQQELLWEGGGREDAPAQEPSYQSPKFLGGSQVSPSRAKAPVNTYGPGFGPNLPNHKSGSYPTPSPCHENFVVGANRASHRAAAPPRLLPPLPTCYGPLKVGGTNPSCGHPEVGRLGGGPALYPPPEGQVCNPLDSLDLDNTQLDFVAILDEPQGLSPPPSHDQRGSSGHTPPPSGPPNMAVGNMSVLLRSLPGETEFLNSSA", "length": 1106, "header": "sp|P08151-1|GLI1_HUMAN Isoform 1 of Zinc finger protein GLI1 OS=Homo sapiens OX=9606 GN=GLI1 PE=1 SV=1 CANONICAL=P08151-1" }, "locus": { "chromosome": "12", "start_pos": 57472058, "end_pos": 57463692, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000228682.7", "url": "https://www.ensembl.org/id/ENST00000228682.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000228682.2", "url": "https://www.ensembl.org/id/ENSP00000228682.2" } ] } }, { "isoform_ac": "P08151-2", "url": "", "sequence": { "sequence": "MFNSMTPPPISSYGEPCCLRPLPSQGAPSVGTEVKLTKKRALSISPLSDASLDLQTVIRTSPSSLVAFINSRCTSPGGSYGHLSIGTMSPSLGFPAQMNHQKGPSPSFGVQPCGPHDSARGGMIPHPQSRGPFPTCQLKSELDMLVGKCREEPLEGDMSSPNSTGIQDPLLGMLDGREDLEREEKREPESVYETDCRWDGCSQEFDSQEQLVHHINSEHIHGERKEFVCHWGGCSRELRPFKAQYMLVVHMRRHTGEKPHKCTFEGCRKSYSRLENLKTHLRSHTGEKPYMCEHEGCSKAFSNASDRAKHQNRTHSNEKPYVCKLPGCTKRYTDPSSLRKHVKTVHGPDAHVTKRHRGDGPLPRAPSISTVEPKREREGGPIREESRLTVPEGAMKPQPSPGAQSSCSSDHSPAGSAANTDSGVEMTGNAGGSTEDLSSLDEGPCIAGTGLSTLRRLENLRLDQLHQLRPIGTRGLKLPSLSHTGTTVSRRVGPPVSLERRSSSSSSISSAYTVSRRSSLASPFPPGSPPENGASSLPGLMPAQHYLLRARYASARGGGTSPTAASSLDRIGGLPMPPWRSRAEYPGYNPNAGVTRRASDPAQAADRPAPARVQRFKSLGCVHTPPTVAGGGQNFDPYLPTSVYSPQPPSITENAAMDARGLQEEPEVGTSMVGSGLNPYMDFPPTDTLGYGGPEGAAAEPYGARGPGSLPLGPGPPTNYGPNPCPQQASYPDPTQETWGEFPSHSGLYPGPKALGGTYSQCPRLEHYGQVQVKPEQGCPVGSDSTGLAPCLNAHPSEGPPHPQPLFSHYPQPSPPQYLQSGPYTQPPPDYLPSEPRPCLDFDSPTHSTGQLKAQLVCNYVQSQQELLWEGGGREDAPAQEPSYQSPKFLGGSQVSPSRAKAPVNTYGPGFGPNLPNHKSGSYPTPSPCHENFVVGANRASHRAAAPPRLLPPLPTCYGPLKVGGTNPSCGHPEVGRLGGGPALYPPPEGQVCNPLDSLDLDNTQLDFVAILDEPQGLSPPPSHDQRGSSGHTPPPSGPPNMAVGNMSVLLRSLPGETEFLNSSA", "length": 1065, "header": "sp|P08151-2|GLI1_HUMAN Isoform 2 of Zinc finger protein GLI1 OS=Homo sapiens OX=9606 GN=GLI1 PE=1 SV=1 CANONICAL=P08151-1" }, "locus": { "chromosome": "12", "start_pos": 57472058, "end_pos": 57463692, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000528467.1", "url": "https://www.ensembl.org/id/ENST00000528467.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000434408.1", "url": "https://www.ensembl.org/id/ENSP00000434408.1" } ] } }, { "isoform_ac": "P08151-3", "url": "", "sequence": { "sequence": "MSPSLGFPAQMNHQKGPSPSFGVQPCGPHDSARGGMIPHPQSRGPFPTCQLKSELDMLVGKCREEPLEGDMSSPNSTGIQDPLLGMLDGREDLEREEKREPESVYETDCRWDGCSQEFDSQEQLVHHINSEHIHGERKEFVCHWGGCSRELRPFKAQYMLVVHMRRHTGEKPHKCTFEGCRKSYSRLENLKTHLRSHTGEKPYMCEHEGCSKAFSNASDRAKHQNRTHSNEKPYVCKLPGCTKRYTDPSSLRKHVKTVHGPDAHVTKRHRGDGPLPRAPSISTVEPKREREGGPIREESRLTVPEGAMKPQPSPGAQSSCSSDHSPAGSAANTDSGVEMTGNAGGSTEDLSSLDEGPCIAGTGLSTLRRLENLRLDQLHQLRPIGTRGLKLPSLSHTGTTVSRRVGPPVSLERRSSSSSSISSAYTVSRRSSLASPFPPGSPPENGASSLPGLMPAQHYLLRARYASARGGGTSPTAASSLDRIGGLPMPPWRSRAEYPGYNPNAGVTRRASDPAQAADRPAPARVQRFKSLGCVHTPPTVAGGGQNFDPYLPTSVYSPQPPSITENAAMDARGLQEEPEVGTSMVGSGLNPYMDFPPTDTLGYGGPEGAAAEPYGARGPGSLPLGPGPPTNYGPNPCPQQASYPDPTQETWGEFPSHSGLYPGPKALGGTYSQCPRLEHYGQVQVKPEQGCPVGSDSTGLAPCLNAHPSEGPPHPQPLFSHYPQPSPPQYLQSGPYTQPPPDYLPSEPRPCLDFDSPTHSTGQLKAQLVCNYVQSQQELLWEGGGREDAPAQEPSYQSPKFLGGSQVSPSRAKAPVNTYGPGFGPNLPNHKSGSYPTPSPCHENFVVGANRASHRAAAPPRLLPPLPTCYGPLKVGGTNPSCGHPEVGRLGGGPALYPPPEGQVCNPLDSLDLDNTQLDFVAILDEPQGLSPPPSHDQRGSSGHTPPPSGPPNMAVGNMSVLLRSLPGETEFLNSSA", "length": 978, "header": "sp|P08151-3|GLI1_HUMAN Isoform 3 of Zinc finger protein GLI1 OS=Homo sapiens OX=9606 GN=GLI1 PE=1 SV=1 CANONICAL=P08151-1" }, "locus": { "chromosome": "12", "start_pos": 57472058, "end_pos": 57464864, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000543426.5", "url": "https://www.ensembl.org/id/ENST00000543426.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000437607.1", "url": "https://www.ensembl.org/id/ENSP00000437607.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "P08151", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P08151" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" }, { "id": "30420690", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30420690" } ] } ], "phosphorylation": [ { "start_pos": 102, "end_pos": 102, "kinase_uniprot_canonical_ac": "Q13131-1", "kinase_gene_name": "PRKAA1", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P08151", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P08151" }, { "database": "PubMed", "id": "26190112", "url": "https://glygen.org/publication/PubMed/26190112" } ], "site_lbl": "Ser102" }, { "start_pos": 102, "end_pos": 102, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P08151", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P08151" }, { "database": "PubMed", "id": "26190112", "url": "https://glygen.org/publication/PubMed/26190112" }, { "database": "PubMed", "id": "28562331", "url": "https://glygen.org/publication/PubMed/28562331" } ], "site_lbl": "Ser102" }, { "start_pos": 1074, "end_pos": 1074, "kinase_uniprot_canonical_ac": "Q13131-1", "kinase_gene_name": "PRKAA1", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P08151", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P08151" }, { "database": "PubMed", "id": "26190112", "url": "https://glygen.org/publication/PubMed/26190112" } ], "site_lbl": "Thr1074" }, { "start_pos": 1074, "end_pos": 1074, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P08151", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P08151" }, { "database": "PubMed", "id": "26190112", "url": "https://glygen.org/publication/PubMed/26190112" }, { "database": "PubMed", "id": "28562331", "url": "https://glygen.org/publication/PubMed/28562331" } ], "site_lbl": "Thr1074" }, { "start_pos": 130, "end_pos": 130, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P08151", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P08151" }, { "database": "PubMed", "id": "20865152", "url": "https://glygen.org/publication/PubMed/20865152" } ], "site_lbl": "Ser130" }, { "start_pos": 243, "end_pos": 243, "kinase_uniprot_canonical_ac": "P41743-1", "kinase_gene_name": "PRKCI", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P08151", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P08151" }, { "database": "PubMed", "id": "23446420", "url": "https://glygen.org/publication/PubMed/23446420" } ], "site_lbl": "Ser243" }, { "start_pos": 304, "end_pos": 304, "kinase_uniprot_canonical_ac": "P41743-1", "kinase_gene_name": "PRKCI", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P08151", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P08151" }, { "database": "PubMed", "id": "23446420", "url": "https://glygen.org/publication/PubMed/23446420" } ], "site_lbl": "Thr304" }, { "start_pos": 408, "end_pos": 408, "kinase_uniprot_canonical_ac": "Q13131-1", "kinase_gene_name": "PRKAA1", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P08151", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P08151" }, { "database": "PubMed", "id": "26190112", "url": "https://glygen.org/publication/PubMed/26190112" } ], "site_lbl": "Ser408" }, { "start_pos": 408, "end_pos": 408, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P08151", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P08151" }, { "database": "PubMed", "id": "26190112", "url": "https://glygen.org/publication/PubMed/26190112" }, { "database": "PubMed", "id": "26843621", "url": "https://glygen.org/publication/PubMed/26843621" }, { "database": "PubMed", "id": "28735864", "url": "https://glygen.org/publication/PubMed/28735864" } ], "site_lbl": "Ser408" }, { "start_pos": 84, "end_pos": 84, "kinase_uniprot_canonical_ac": "P23443-1", "kinase_gene_name": "RPS6KB1", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P08151", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P08151" }, { "database": "PubMed", "id": "22439934", "url": "https://glygen.org/publication/PubMed/22439934" } ], "site_lbl": "Ser84" }, { "start_pos": 84, "end_pos": 84, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P08151", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P08151" }, { "database": "PubMed", "id": "22439934", "url": "https://glygen.org/publication/PubMed/22439934" }, { "database": "PubMed", "id": "24661902", "url": "https://glygen.org/publication/PubMed/24661902" }, { "database": "PubMed", "id": "30389910", "url": "https://glygen.org/publication/PubMed/30389910" } ], "site_lbl": "Ser84" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Sonic Hedgehog-induced activation of the Gli1 promoter is mediated by GLI3.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Dai P, Akimaru H, Tanaka Y, Maekawa T, Nakafuku M, Ishii S", "evidence": [ { "database": "Reactome", "id": "R-HSA-5635851", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5635851" } ], "reference": [ { "type": "PubMed", "id": "10075717", "url": "https://glygen.org/publication/PubMed/10075717" } ] }, { "title": "Vertebrate homologs of Drosophila suppressor of fused interact with the gli family of transcriptional regulators.", "journal": "Developmental biology", "date": "1999", "authors": "Pearse RV 2nd, Collier LS, Scott MP, Tabin CJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-5632684", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5632684" } ], "reference": [ { "type": "PubMed", "id": "10433824", "url": "https://glygen.org/publication/PubMed/10433824" } ] }, { "title": "Characterization of the human suppressor of fused, a negative regulator of the zinc-finger transcription factor Gli.", "journal": "Journal of cell science", "date": "1999", "authors": "Stone DM, Murone M, Luoh S, Ye W, Armanini MP, Gurney A, Phillips H, Brush J, Goddard A, de Sauvage FJ, Rosenthal A", "evidence": [ { "database": "Reactome", "id": "R-HSA-5632684", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5632684" } ], "reference": [ { "type": "PubMed", "id": "10564661", "url": "https://glygen.org/publication/PubMed/10564661" } ] }, { "title": "Gli regulation by the opposing activities of fused and suppressor of fused.", "journal": "Nature cell biology", "date": "2000", "authors": "Murone M, Luoh SM, Stone D, Li W, Gurney A, Armanini M, Grey C, Rosenthal A, de Sauvage FJ", "evidence": [ { "database": "UniProtKB", "id": "P08151", "url": "https://www.uniprot.org/uniprot/P08151" } ], "reference": [ { "type": "PubMed", "id": "10806483", "url": "https://glygen.org/publication/PubMed/10806483" } ] }, { "title": "Identification of polymorphic variants of the GLI1 oncogene.", "journal": "J. Invest. Dermatol.", "date": "2000", "authors": "Wang X Q, Chan N, Rothnagel J A", "evidence": [ { "database": "UniProtKB", "id": "P08151", "url": "https://www.uniprot.org/uniprot/P08151" } ], "reference": [ { "type": "PubMed", "id": "10951255", "url": "https://glygen.org/publication/PubMed/10951255" } ] }, { "title": "Hedgehog induces opposite changes in turnover and subcellular localization of patched and smoothened.", "journal": "Cell", "date": "2000", "authors": "Denef N, Neubuser D, Perez L, Cohen SM", "evidence": [ { "database": "Reactome", "id": "R-HSA-5632684", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5632684" } ], "reference": [ { "type": "PubMed", "id": "10966113", "url": "https://glygen.org/publication/PubMed/10966113" } ] }, { "title": "Receptor-mediated endocytosis of soluble and membrane-tethered Sonic hedgehog by Patched-1.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2000", "authors": "Incardona JP, Lee JH, Robertson CP, Enga K, Kapur RP, Roelink H", "evidence": [ { "database": "Reactome", "id": "R-HSA-5632684", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5632684" } ], "reference": [ { "type": "PubMed", "id": "11027307", "url": "https://glygen.org/publication/PubMed/11027307" } ] }, { "title": "Physical and functional interactions between Zic and Gli proteins.", "journal": "The Journal of biological chemistry", "date": "2001-03-09", "authors": "Koyabu Y, Nakata K, Mizugishi K, Aruga J, Mikoshiba K", "evidence": [ { "database": "UniProtKB", "id": "P08151", "url": "https://www.uniprot.org/uniprot/P08151" } ], "reference": [ { "type": "PubMed", "id": "11238441", "url": "https://glygen.org/publication/PubMed/11238441" } ] }, { "title": "G-protein signaling through tubby proteins.", "journal": "Science (New York, N.Y.)", "date": "2001", "authors": "Santagata S, Boggon TJ, Baird CL, Gomez CA, Zhao J, Shan WS, Myszka DG, Shapiro L", "evidence": [ { "database": "Reactome", "id": "R-HSA-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "11375483", "url": "https://glygen.org/publication/PubMed/11375483" } ] }, { "title": "Suppressor of Fused represses Gli-mediated transcription by recruiting the SAP18-mSin3 corepressor complex.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2002", "authors": "Cheng SY, Bishop JM", "evidence": [ { "database": "Reactome", "id": "R-HSA-5632684", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5632684" } ], "reference": [ { "type": "PubMed", "id": "11960000", "url": "https://glygen.org/publication/PubMed/11960000" } ] }, { "title": "Kremen proteins are Dickkopf receptors that regulate Wnt/beta-catenin signalling.", "journal": "Nature", "date": "2002", "authors": "Mao B, Wu W, Davidson G, Marhold J, Li M, Mechler BM, Delius H, Hoppe D, Stannek P, Walter C, Glinka A, Niehrs C", "evidence": [ { "database": "Reactome", "id": "R-HSA-5632684", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5632684" } ], "reference": [ { "type": "PubMed", "id": "12050670", "url": "https://glygen.org/publication/PubMed/12050670" } ] }, { "title": "Mutations in SUFU predispose to medulloblastoma.", "journal": "Nature genetics", "date": "2002", "authors": "Taylor MD, Liu L, Raffel C, Hui CC, Mainprize TG, Zhang X, Agatep R, Chiappa S, Gao L, Lowrance A, Hao A, Goldstein AM, Stavrou T, Scherer SW, Dura WT, Wainwright B, Squire JA, Rutka JT, Hogg D", "evidence": [ { "database": "Reactome", "id": "R-HSA-5632684", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5632684" } ], "reference": [ { "type": "PubMed", "id": "12068298", "url": "https://glygen.org/publication/PubMed/12068298" } ] }, { "title": "Sonic hedgehog induces the segregation of patched and smoothened in endosomes.", "journal": "Current biology : CB", "date": "2002", "authors": "Incardona JP, Gruenberg J, Roelink H", "evidence": [ { "database": "Reactome", "id": "R-HSA-5632684", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5632684" } ], "reference": [ { "type": "PubMed", "id": "12123571", "url": "https://glygen.org/publication/PubMed/12123571" } ] }, { "title": "Regulation of Gli1 transcriptional activity in the nucleus by Dyrk1.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Mao J, Maye P, Kogerman P, Tejedor FJ, Toftgard R, Xie W, Wu G, Wu D", "evidence": [ { "database": "Reactome", "id": "R-HSA-5632684", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5632684" } ], "reference": [ { "type": "PubMed", "id": "12138125", "url": "https://glygen.org/publication/PubMed/12138125" } ] }, { "title": "Patched acts catalytically to suppress the activity of Smoothened.", "journal": "Nature", "date": "2002", "authors": "Taipale J, Cooper MK, Maiti T, Beachy PA", "evidence": [ { "database": "Reactome", "id": "R-HSA-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "12192414", "url": "https://glygen.org/publication/PubMed/12192414" } ] }, { "title": "Gli2, but not Gli1, is required for initial Shh signaling and ectopic activation of the Shh pathway.", "journal": "Development (Cambridge, England)", "date": "2002", "authors": "Bai CB, Auerbach W, Lee JS, Stephen D, Joyner AL", "evidence": [ { "database": "Reactome", "id": "R-HSA-5635851", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5635851" } ], "reference": [ { "type": "PubMed", "id": "12361967", "url": "https://glygen.org/publication/PubMed/12361967" } ] }, { "title": "Characterization of the physical interaction of Gli proteins with SUFU proteins.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Dunaeva M, Michelson P, Kogerman P, Toftgard R", "evidence": [ { "database": "Reactome", "id": "R-HSA-5632684", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5632684" } ], "reference": [ { "type": "PubMed", "id": "12426310", "url": "https://glygen.org/publication/PubMed/12426310" } ] }, { "title": "Ski is involved in transcriptional regulation by the repressor and full-length forms of Gli3.", "journal": "Genes & development", "date": "2002", "authors": "Dai P, Shinagawa T, Nomura T, Harada J, Kaul SC, Wadhwa R, Khan MM, Akimaru H, Sasaki H, Colmenares C, Ishii S", "evidence": [ { "database": "Reactome", "id": "R-HSA-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "12435627", "url": "https://glygen.org/publication/PubMed/12435627" } ] }, { "title": "Targeting of protein ubiquitination by BTB-Cullin 3-Roc1 ubiquitin ligases.", "journal": "Nature cell biology", "date": "2003", "authors": "Furukawa M, He YJ, Borchers C, Xiong Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-5632684", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5632684" } ], "reference": [ { "type": "PubMed", "id": "14528312", "url": "https://glygen.org/publication/PubMed/14528312" } ] }, { "title": "Hedgehog signalling in the mouse requires intraflagellar transport proteins.", "journal": "Nature", "date": "2003", "authors": "Huangfu D, Liu A, Rakeman AS, Murcia NS, Niswander L, Anderson KV", "evidence": [ { "database": "Reactome", "id": "R-HSA-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "14603322", "url": "https://glygen.org/publication/PubMed/14603322" } ] }, { "title": "The negative regulator of Gli, Suppressor of fused (Sufu), interacts with SAP18, Galectin3 and other nuclear proteins.", "journal": "The Biochemical journal", "date": "2004", "authors": "Paces-Fessy M, Boucher D, Petit E, Paute-Briand S, Blanchet-Tournier MF", "evidence": [ { "database": "Reactome", "id": "R-HSA-5632684", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5632684" } ], "reference": [ { "type": "PubMed", "id": "14611647", "url": "https://glygen.org/publication/PubMed/14611647" } ] }, { "title": "All mouse ventral spinal cord patterning by hedgehog is Gli dependent and involves an activator function of Gli3.", "journal": "Developmental cell", "date": "2004", "authors": "Bai CB, Stephen D, Joyner AL", "evidence": [ { "database": "Reactome", "id": "R-HSA-5635851", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5635851" } ], "reference": [ { "type": "PubMed", "id": "14723851", "url": "https://glygen.org/publication/PubMed/14723851" } ] }, { "title": "Expression of the PTCH1 tumor suppressor gene is regulated by alternative promoters and a single functional Gli-binding site.", "journal": "Gene", "date": "2004", "authors": "Agren M, Kogerman P, Kleman MI, Wessling M, Toftgard R", "evidence": [ { "database": "Reactome", "id": "R-HSA-5635851", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5635851" } ], "reference": [ { "type": "PubMed", "id": "15087129", "url": "https://glygen.org/publication/PubMed/15087129" } ] }, { "title": "The zebrafish iguana locus encodes Dzip1, a novel zinc-finger protein required for proper regulation of Hedgehog signaling.", "journal": "Development (Cambridge, England)", "date": "2004", "authors": "Sekimizu K, Nishioka N, Sasaki H, Takeda H, Karlstrom RO, Kawakami A", "evidence": [ { "database": "Reactome", "id": "R-HSA-5632684", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5632684" } ], "reference": [ { "type": "PubMed", "id": "15115751", "url": "https://glygen.org/publication/PubMed/15115751" } ] }, { "title": "iguana encodes a novel zinc-finger protein with coiled-coil domains essential for Hedgehog signal transduction in the zebrafish embryo.", "journal": "Genes & development", "date": "2004", "authors": "Wolff C, Roy S, Lewis KE, Schauerte H, Joerg-Rauch G, Kirn A, Weiler C, Geisler R, Haffter P, Ingham PW", "evidence": [ { "database": "Reactome", "id": "R-HSA-5632684", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5632684" } ], "reference": [ { "type": "PubMed", "id": "15198976", "url": "https://glygen.org/publication/PubMed/15198976" } ] }, { "title": "Reading the Hedgehog morphogen gradient by measuring the ratio of bound to unbound Patched protein.", "journal": "Nature", "date": "2004", "authors": "Casali A, Struhl G", "evidence": [ { "database": "Reactome", "id": "R-HSA-5632684", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5632684" } ], "reference": [ { "type": "PubMed", "id": "15300262", "url": "https://glygen.org/publication/PubMed/15300262" } ] }, { "title": "Mouse intraflagellar transport proteins regulate both the activator and repressor functions of Gli transcription factors.", "journal": "Development (Cambridge, England)", "date": "2005", "authors": "Liu A, Wang B, Niswander LA", "evidence": [ { "database": "Reactome", "id": "R-HSA-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "15930098", "url": "https://glygen.org/publication/PubMed/15930098" } ] }, { "title": "Cilia and Hedgehog responsiveness in the mouse.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2005", "authors": "Huangfu D, Anderson KV", "evidence": [ { "database": "Reactome", "id": "R-HSA-5632684", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5632684" } ], "reference": [ { "type": "PubMed", "id": "16061793", "url": "https://glygen.org/publication/PubMed/16061793" } ] }, { "title": "Vertebrate Smoothened functions at the primary cilium.", "journal": "Nature", "date": "2005", "authors": "Corbit KC, Aanstad P, Singla V, Norman AR, Stainier DY, Reiter JF", "evidence": [ { "database": "Reactome", "id": "R-HSA-5632684", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5632684" } ], "reference": [ { "type": "PubMed", "id": "16136078", "url": "https://glygen.org/publication/PubMed/16136078" } ] }, { "title": "Cardiac and CNS defects in a mouse with targeted disruption of suppressor of fused.", "journal": "Development (Cambridge, England)", "date": "2005", "authors": "Cooper AF, Yu KP, Brueckner M, Brailey LL, Johnson L, McGrath JM, Bale AE", "evidence": [ { "database": "Reactome", "id": "R-HSA-5632684", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5632684" } ], "reference": [ { "type": "PubMed", "id": "16155214", "url": "https://glygen.org/publication/PubMed/16155214" } ] }, { "title": "Loss of the retrograde motor for IFT disrupts localization of Smo to cilia and prevents the expression of both activator and repressor functions of Gli.", "journal": "Developmental biology", "date": "2005", "authors": "May SR, Ashique AM, Karlen M, Wang B, Shen Y, Zarbalis K, Reiter J, Ericson J, Peterson AS", "evidence": [ { "database": "Reactome", "id": "R-HSA-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "16229832", "url": "https://glygen.org/publication/PubMed/16229832" } ] }, { "title": "Gli2 and Gli3 localize to cilia and require the intraflagellar transport protein polaris for processing and function.", "journal": "PLoS genetics", "date": "2005", "authors": "Haycraft CJ, Banizs B, Aydin-Son Y, Zhang Q, Michaud EJ, Yoder BK", "evidence": [ { "database": "Reactome", "id": "R-HSA-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "16254602", "url": "https://glygen.org/publication/PubMed/16254602" } ] }, { "title": "Oral-facial-digital type I protein is required for primary cilia formation and left-right axis specification.", "journal": "Nature genetics", "date": "2006", "authors": "Ferrante MI, Zullo A, Barra A, Bimonte S, Messaddeq N, Studer M, Dolle P, Franco B", "evidence": [ { "database": "Reactome", "id": "R-HSA-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "16311594", "url": "https://glygen.org/publication/PubMed/16311594" } ] }, { "title": "Signaling from Smo to Ci/Gli: conservation and divergence of Hedgehog pathways from Drosophila to vertebrates.", "journal": "Development (Cambridge, England)", "date": "2006", "authors": "Huangfu D, Anderson KV", "evidence": [ { "database": "Reactome", "id": "R-HSA-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "16339192", "url": "https://glygen.org/publication/PubMed/16339192" } ] }, { "title": "GLI3-dependent transcriptional repression of Gli1, Gli2 and kidney patterning genes disrupts renal morphogenesis.", "journal": "Development (Cambridge, England)", "date": "2006", "authors": "Hu MC, Mo R, Bhella S, Wilson CW, Chuang PT, Hui CC, Rosenblum ND", "evidence": [ { "database": "Reactome", "id": "R-HSA-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "16396903", "url": "https://glygen.org/publication/PubMed/16396903" } ] }, { "title": "Dual degradation signals control Gli protein stability and tumor formation.", "journal": "Genes & development", "date": "2006", "authors": "Huntzicker EG, Estay IS, Zhen H, Lokteva LA, Jackson PK, Oro AE", "evidence": [ { "database": "Reactome", "id": "R-HSA-5610780", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610780" } ], "reference": [ { "type": "PubMed", "id": "16421275", "url": "https://glygen.org/publication/PubMed/16421275" } ] }, { "title": "Divergence of hedgehog signal transduction mechanism between Drosophila and mammals.", "journal": "Developmental cell", "date": "2006", "authors": "Varjosalo M, Li SP, Taipale J", "evidence": [ { "database": "Reactome", "id": "R-HSA-5632684", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5632684" } ], "reference": [ { "type": "PubMed", "id": "16459297", "url": "https://glygen.org/publication/PubMed/16459297" } ] }, { "title": "Genetic elimination of Suppressor of fused reveals an essential repressor function in the mammalian Hedgehog signaling pathway.", "journal": "Developmental cell", "date": "2006", "authors": "Svard J, Heby-Henricson K, Persson-Lek M, Rozell B, Lauth M, Bergstrom A, Ericson J, Toftgard R, Teglund S", "evidence": [ { "database": "Reactome", "id": "R-HSA-5632684", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5632684" } ], "reference": [ { "type": "PubMed", "id": "16459298", "url": "https://glygen.org/publication/PubMed/16459298" } ] }, { "title": "Ciliogenesis defects in embryos lacking inturned or fuzzy function are associated with failure of planar cell polarity and Hedgehog signaling.", "journal": "Nature genetics", "date": "2006", "authors": "Park TJ, Haigo SL, Wallingford JB", "evidence": [ { "database": "Reactome", "id": "R-HSA-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "16493421", "url": "https://glygen.org/publication/PubMed/16493421" } ] }, { "title": "Sonic hedgehog signaling regulates Gli2 transcriptional activity by suppressing its processing and degradation.", "journal": "Molecular and cellular biology", "date": "2006", "authors": "Pan Y, Bai CB, Joyner AL, Wang B", "evidence": [ { "database": "Reactome", "id": "R-HSA-5632684", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5632684" } ], "reference": [ { "type": "PubMed", "id": "16611981", "url": "https://glygen.org/publication/PubMed/16611981" } ] }, { "title": "Roadkill attenuates Hedgehog responses through degradation of Cubitus interruptus.", "journal": "Development (Cambridge, England)", "date": "2006", "authors": "Kent D, Bush EW, Hooper JE", "evidence": [ { "database": "Reactome", "id": "R-HSA-5632684", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5632684" } ], "reference": [ { "type": "PubMed", "id": "16651542", "url": "https://glygen.org/publication/PubMed/16651542" } ] }, { "title": "Multisite protein kinase A and glycogen synthase kinase 3beta phosphorylation leads to Gli3 ubiquitination by SCFbetaTrCP.", "journal": "Molecular and cellular biology", "date": "2006", "authors": "Tempe D, Casas M, Karaz S, Blanchet-Tournier MF, Concordet JP", "evidence": [ { "database": "Reactome", "id": "R-HSA-5610780", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610780" } ], "reference": [ { "type": "PubMed", "id": "16705181", "url": "https://glygen.org/publication/PubMed/16705181" } ] }, { "title": "Oxysterols stimulate Sonic hedgehog signal transduction and proliferation of medulloblastoma cells.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2006", "authors": "Corcoran RB, Scott MP", "evidence": [ { "database": "Reactome", "id": "R-HSA-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "16707575", "url": "https://glygen.org/publication/PubMed/16707575" } ] }, { "title": "A hedgehog-induced BTB protein modulates hedgehog signaling by degrading Ci/Gli transcription factor.", "journal": "Developmental cell", "date": "2006", "authors": "Zhang Q, Zhang L, Wang B, Ou CY, Chien CT, Jiang J", "evidence": [ { "database": "Reactome", "id": "R-HSA-5632684", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5632684" } ], "reference": [ { "type": "PubMed", "id": "16740475", "url": "https://glygen.org/publication/PubMed/16740475" } ] }, { "title": "The consensus coding sequences of human breast and colorectal cancers.", "journal": "Science (New York, N.Y.)", "date": "2006", "authors": "Sjoblom T, Jones S, Wood LD, Parsons DW, Lin J, Barber TD, Mandelker D, Leary RJ, Ptak J, Silliman N, Szabo S, Buckhaults P, Farrell C, Meeh P, Markowitz SD, Willis J, Dawson D, Willson JK, Gazdar AF, Hartigan J, Wu L, Liu C, Parmigiani G, Park BH, Bachman KE, Papadopoulos N, Vogelstein B, Kinzler KW, Velculescu VE", "evidence": [ { "database": "UniProtKB", "id": "P08151", "url": "https://www.uniprot.org/uniprot/P08151" } ], "reference": [ { "type": "PubMed", "id": "16959974", "url": "https://glygen.org/publication/PubMed/16959974" } ] }, { "title": "The C-terminal tail of the Hedgehog receptor Patched regulates both localization and turnover.", "journal": "Genes & development", "date": "2006", "authors": "Lu X, Liu S, Kornberg TB", "evidence": [ { "database": "Reactome", "id": "R-HSA-5632684", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5632684" } ], "reference": [ { "type": "PubMed", "id": "16980583", "url": "https://glygen.org/publication/PubMed/16980583" } ] }, { "title": "Hippi is essential for node cilia assembly and Sonic hedgehog signaling.", "journal": "Developmental biology", "date": "2006", "authors": "Houde C, Dickinson RJ, Houtzager VM, Cullum R, Montpetit R, Metzler M, Simpson EM, Roy S, Hayden MR, Hoodless PA, Nicholson DW", "evidence": [ { "database": "Reactome", "id": "R-HSA-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "17027958", "url": "https://glygen.org/publication/PubMed/17027958" } ] }, { "title": "Numb is a suppressor of Hedgehog signalling and targets Gli1 for Itch-dependent ubiquitination.", "journal": "Nature cell biology", "date": "2006", "authors": "Di Marcotullio L, Ferretti E, Greco A, De Smaele E, Po A, Sico MA, Alimandi M, Giannini G, Maroder M, Screpanti I, Gulino A", "evidence": [ { "database": "Reactome", "id": "R-HSA-5610780", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610780" } ], "reference": [ { "type": "PubMed", "id": "17115028", "url": "https://glygen.org/publication/PubMed/17115028" } ] }, { "title": "Oxysterols are novel activators of the hedgehog signaling pathway in pluripotent mesenchymal cells.", "journal": "The Journal of biological chemistry", "date": "2007", "authors": "Dwyer JR, Sever N, Carlson M, Nelson SF, Beachy PA, Parhami F", "evidence": [ { "database": "Reactome", "id": "R-HSA-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "17200122", "url": "https://glygen.org/publication/PubMed/17200122" } ] }, { "title": "A novel protein-processing domain in Gli2 and Gli3 differentially blocks complete protein degradation by the proteasome.", "journal": "The Journal of biological chemistry", "date": "2007", "authors": "Pan Y, Wang B", "evidence": [ { "database": "Reactome", "id": "R-HSA-5610780", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610780" } ], "reference": [ { "type": "PubMed", "id": "17283082", "url": "https://glygen.org/publication/PubMed/17283082" } ] }, { "title": "Genomic characterization of Gli-activator targets in sonic hedgehog-mediated neural patterning.", "journal": "Development (Cambridge, England)", "date": "2007", "authors": "Vokes SA, Ji H, McCuine S, Tenzen T, Giles S, Zhong S, Longabaugh WJ, Davidson EH, Wong WH, McMahon AP", "evidence": [ { "database": "Reactome", "id": "R-HSA-5632684", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5632684" } ], "reference": [ { "type": "PubMed", "id": "17442700", "url": "https://glygen.org/publication/PubMed/17442700" } ] }, { "title": "Ftm is a novel basal body protein of cilia involved in Shh signalling.", "journal": "Development (Cambridge, England)", "date": "2007", "authors": "Vierkotten J, Dildrop R, Peters T, Wang B, Ruther U", "evidence": [ { "database": "Reactome", "id": "R-HSA-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "17553904", "url": "https://glygen.org/publication/PubMed/17553904" } ] }, { "title": "Patched1 regulates hedgehog signaling at the primary cilium.", "journal": "Science (New York, N.Y.)", "date": "2007", "authors": "Rohatgi R, Milenkovic L, Scott MP", "evidence": [ { "database": "Reactome", "id": "R-HSA-5632684", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5632684" } ], "reference": [ { "type": "PubMed", "id": "17641202", "url": "https://glygen.org/publication/PubMed/17641202" } ] }, { "title": "Patching the gaps in Hedgehog signalling.", "journal": "Nature cell biology", "date": "2007", "authors": "Rohatgi R, Scott MP", "evidence": [ { "database": "Reactome", "id": "R-HSA-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "17762891", "url": "https://glygen.org/publication/PubMed/17762891" } ] }, { "title": "Hedgehog regulates smoothened activity by inducing a conformational switch.", "journal": "Nature", "date": "2007", "authors": "Zhao Y, Tong C, Jiang J", "evidence": [ { "database": "Reactome", "id": "R-HSA-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "17960137", "url": "https://glygen.org/publication/PubMed/17960137" } ] }, { "title": "THM1 negatively modulates mouse sonic hedgehog signal transduction and affects retrograde intraflagellar transport in cilia.", "journal": "Nature genetics", "date": "2008", "authors": "Tran PV, Haycraft CJ, Besschetnova TY, Turbe-Doan A, Stottmann RW, Herron BJ, Chesebro AL, Qiu H, Scherz PJ, Shah JV, Yoder BK, Beier DR", "evidence": [ { "database": "Reactome", "id": "R-HSA-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "18327258", "url": "https://glygen.org/publication/PubMed/18327258" } ] }, { "title": "Application of active and kinase-deficient kinome collection for identification of kinases regulating hedgehog signaling.", "journal": "Cell", "date": "2008", "authors": "Varjosalo M, Bjorklund M, Cheng F, Syvanen H, Kivioja T, Kilpinen S, Sun Z, Kallioniemi O, Stunnenberg HG, He WW, Ojala P, Taipale J", "evidence": [ { "database": "Reactome", "id": "R-HSA-5632684", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5632684" } ], "reference": [ { "type": "PubMed", "id": "18455992", "url": "https://glygen.org/publication/PubMed/18455992" } ] }, { "title": "Beta-arrestin-mediated localization of smoothened to the primary cilium.", "journal": "Science (New York, N.Y.)", "date": "2008", "authors": "Kovacs JJ, Whalen EJ, Liu R, Xiao K, Kim J, Chen M, Wang J, Chen W, Lefkowitz RJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-5632684", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5632684" } ], "reference": [ { "type": "PubMed", "id": "18497258", "url": "https://glygen.org/publication/PubMed/18497258" } ] }, { "title": "Kinome siRNA screen identifies regulators of ciliogenesis and hedgehog signal transduction.", "journal": "Science signaling", "date": "2008", "authors": "Evangelista M, Lim TY, Lee J, Parker L, Ashique A, Peterson AS, Ye W, Davis DP, de Sauvage FJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-5632684", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5632684" } ], "reference": [ { "type": "PubMed", "id": "18827223", "url": "https://glygen.org/publication/PubMed/18827223" } ] }, { "title": "A genome-scale analysis of the cis-regulatory circuitry underlying sonic hedgehog-mediated patterning of the mammalian limb.", "journal": "Genes & development", "date": "2008", "authors": "Vokes SA, Ji H, Wong WH, McMahon AP", "evidence": [ { "database": "Reactome", "id": "R-HSA-5632684", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5632684" } ], "reference": [ { "type": "PubMed", "id": "18832070", "url": "https://glygen.org/publication/PubMed/18832070" } ] }, { "title": "Defective ciliogenesis, embryonic lethality and severe impairment of the Sonic Hedgehog pathway caused by inactivation of the mouse complex A intraflagellar transport gene Ift122/Wdr10, partially overlapping with the DNA repair gene Med1/Mbd4.", "journal": "Developmental biology", "date": "2009", "authors": "Cortellino S, Wang C, Wang B, Bassi MR, Caretti E, Champeval D, Calmont A, Jarnik M, Burch J, Zaret KS, Larue L, Bellacosa A", "evidence": [ { "database": "Reactome", "id": "R-HSA-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "19000668", "url": "https://glygen.org/publication/PubMed/19000668" } ] }, { "title": "Phosphorylation of Gli2 by protein kinase A is required for Gli2 processing and degradation and the Sonic Hedgehog-regulated mouse development.", "journal": "Developmental biology", "date": "2009", "authors": "Pan Y, Wang C, Wang B", "evidence": [ { "database": "Reactome", "id": "R-HSA-5610780", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610780" } ], "reference": [ { "type": "PubMed", "id": "19056373", "url": "https://glygen.org/publication/PubMed/19056373" } ] }, { "title": "Selective translocation of intracellular Smoothened to the primary cilium in response to Hedgehog pathway modulation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2009", "authors": "Wang Y, Zhou Z, Walsh CT, McMahon AP", "evidence": [ { "database": "Reactome", "id": "R-HSA-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "19196978", "url": "https://glygen.org/publication/PubMed/19196978" } ] }, { "title": "Mouse hitchhiker mutants have spina bifida, dorso-ventral patterning defects and polydactyly: identification of Tulp3 as a novel negative regulator of the Sonic hedgehog pathway.", "journal": "Human molecular genetics", "date": "2009", "authors": "Patterson VL, Damrau C, Paudyal A, Reeve B, Grimes DT, Stewart ME, Williams DJ, Siggers P, Greenfield A, Murdoch JN", "evidence": [ { "database": "Reactome", "id": "R-HSA-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "19223390", "url": "https://glygen.org/publication/PubMed/19223390" } ] }, { "title": "Tubby-like protein 3 (TULP3) regulates patterning in the mouse embryo through inhibition of Hedgehog signaling.", "journal": "Human molecular genetics", "date": "2009", "authors": "Norman RX, Ko HW, Huang V, Eun CM, Abler LL, Zhang Z, Sun X, Eggenschwiler JT", "evidence": [ { "database": "Reactome", "id": "R-HSA-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "19286674", "url": "https://glygen.org/publication/PubMed/19286674" } ] }, { "title": "Fused has evolved divergent roles in vertebrate Hedgehog signalling and motile ciliogenesis.", "journal": "Nature", "date": "2009", "authors": "Wilson CW, Nguyen CT, Chen MH, Yang JH, Gacayan R, Huang J, Chen JN, Chuang PT", "evidence": [ { "database": "Reactome", "id": "R-HSA-5632684", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5632684" } ], "reference": [ { "type": "PubMed", "id": "19305393", "url": "https://glygen.org/publication/PubMed/19305393" } ] }, { "title": "Smoothened adopts multiple active and inactive conformations capable of trafficking to the primary cilium.", "journal": "PloS one", "date": "2009", "authors": "Wilson CW, Chen MH, Chuang PT", "evidence": [ { "database": "Reactome", "id": "R-HSA-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "19365551", "url": "https://glygen.org/publication/PubMed/19365551" } ] }, { "title": "The role of Parafibromin/Hyrax as a nuclear Gli/Ci-interacting protein in Hedgehog target gene control.", "journal": "Mechanisms of development", "date": "2009", "authors": "Mosimann C, Hausmann G, Basler K", "evidence": [ { "database": "Reactome", "id": "R-HSA-5632684", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5632684" } ], "reference": [ { "type": "PubMed", "id": "19368795", "url": "https://glygen.org/publication/PubMed/19368795" } ] }, { "title": "Suppressor of Fused inhibits mammalian Hedgehog signaling in the absence of cilia.", "journal": "Developmental biology", "date": "2009", "authors": "Jia J, Kolterud A, Zeng H, Hoover A, Teglund S, Toftgard R, Liu A", "evidence": [ { "database": "Reactome", "id": "R-HSA-5632684", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5632684" } ], "reference": [ { "type": "PubMed", "id": "19371734", "url": "https://glygen.org/publication/PubMed/19371734" } ] }, { "title": "Identification of a SUFU germline mutation in a family with Gorlin syndrome.", "journal": "American journal of medical genetics. Part A", "date": "2009", "authors": "Pastorino L, Ghiorzo P, Nasti S, Battistuzzi L, Cusano R, Marzocchi C, Garre ML, Clementi M, Scarra GB", "evidence": [ { "database": "Reactome", "id": "R-HSA-5632684", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5632684" } ], "reference": [ { "type": "PubMed", "id": "19533801", "url": "https://glygen.org/publication/PubMed/19533801" } ] }, { "title": "The kinesin protein Kif7 is a critical regulator of Gli transcription factors in mammalian hedgehog signaling.", "journal": "Science signaling", "date": "2009", "authors": "Cheung HO, Zhang X, Ribeiro A, Mo R, Makino S, Puviindran V, Law KK, Briscoe J, Hui CC", "evidence": [ { "database": "Reactome", "id": "R-HSA-5632684", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5632684" } ], "reference": [ { "type": "PubMed", "id": "19549984", "url": "https://glygen.org/publication/PubMed/19549984" } ] }, { "title": "The mammalian Cos2 homolog Kif7 plays an essential role in modulating Hh signal transduction during development.", "journal": "Current biology : CB", "date": "2009", "authors": "Endoh-Yamagami S, Evangelista M, Wilson D, Wen X, Theunissen JW, Phamluong K, Davis M, Scales SJ, Solloway MJ, de Sauvage FJ, Peterson AS", "evidence": [ { "database": "Reactome", "id": "R-HSA-5632684", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5632684" } ], "reference": [ { "type": "PubMed", "id": "19592253", "url": "https://glygen.org/publication/PubMed/19592253" } ] }, { "title": "Sufu recruits GSK3beta for efficient processing of Gli3.", "journal": "Biochemical and biophysical research communications", "date": "2009", "authors": "Kise Y, Morinaka A, Teglund S, Miki H", "evidence": [ { "database": "Reactome", "id": "R-HSA-5632684", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5632684" } ], "reference": [ { "type": "PubMed", "id": "19622347", "url": "https://glygen.org/publication/PubMed/19622347" } ] }, { "title": "Mouse Kif7/Costal2 is a cilia-associated protein that regulates Sonic hedgehog signaling.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2009", "authors": "Liem KF Jr, He M, Ocbina PJ, Anderson KV", "evidence": [ { "database": "Reactome", "id": "R-HSA-5632684", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5632684" } ], "reference": [ { "type": "PubMed", "id": "19666503", "url": "https://glygen.org/publication/PubMed/19666503" } ] }, { "title": "Cilium-independent regulation of Gli protein function by Sufu in Hedgehog signaling is evolutionarily conserved.", "journal": "Genes & development", "date": "2009", "authors": "Chen MH, Wilson CW, Li YJ, Law KK, Lu CS, Gacayan R, Zhang X, Hui CC, Chuang PT", "evidence": [ { "database": "Reactome", "id": "R-HSA-5632684", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5632684" } ], "reference": [ { "type": "PubMed", "id": "19684112", "url": "https://glygen.org/publication/PubMed/19684112" } ] }, { "title": "A novel splice variant of GLI1 that promotes glioblastoma cell migration and invasion.", "journal": "Cancer research", "date": "2009-09-01", "authors": "Lo Hui-Wen, Zhu Hu, Cao Xinyu, Aldrich Amy, Ali-Osman Francis", "evidence": [ { "database": "UniProtKB", "id": "P08151", "url": "https://www.uniprot.org/uniprot/P08151" } ], "reference": [ { "type": "PubMed", "id": "19706761", "url": "https://glygen.org/publication/PubMed/19706761" } ] }, { "title": "The planar cell polarity effector Fuz is essential for targeted membrane trafficking, ciliogenesis and mouse embryonic development.", "journal": "Nature cell biology", "date": "2009", "authors": "Gray RS, Abitua PB, Wlodarczyk BJ, Szabo-Rogers HL, Blanchard O, Lee I, Weiss GS, Liu KJ, Marcotte EM, Wallingford JB, Finnell RH", "evidence": [ { "database": "Reactome", "id": "R-HSA-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "19767740", "url": "https://glygen.org/publication/PubMed/19767740" } ] }, { "title": "A mouse model for Meckel syndrome reveals Mks1 is required for ciliogenesis and Hedgehog signaling.", "journal": "Human molecular genetics", "date": "2009", "authors": "Weatherbee SD, Niswander LA, Anderson KV", "evidence": [ { "database": "Reactome", "id": "R-HSA-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "19776033", "url": "https://glygen.org/publication/PubMed/19776033" } ] }, { "title": "Structures of SPOP-substrate complexes: insights into molecular architectures of BTB-Cul3 ubiquitin ligases.", "journal": "Molecular cell", "date": "2009", "authors": "Zhuang M, Calabrese MF, Liu J, Waddell MB, Nourse A, Hammel M, Miller DJ, Walden H, Duda DM, Seyedin SN, Hoggard T, Harper JW, White KP, Schulman BA", "evidence": [ { "database": "Reactome", "id": "R-HSA-5632684", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5632684" } ], "reference": [ { "type": "PubMed", "id": "19818708", "url": "https://glygen.org/publication/PubMed/19818708" } ] }, { "title": "The Zn finger protein Iguana impacts Hedgehog signaling by promoting ciliogenesis.", "journal": "Developmental biology", "date": "2010", "authors": "Glazer AM, Wilkinson AW, Backer CB, Lapan SW, Gutzman JH, Cheeseman IM, Reddien PW", "evidence": [ { "database": "Reactome", "id": "R-HSA-5632684", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5632684" } ], "reference": [ { "type": "PubMed", "id": "19852954", "url": "https://glygen.org/publication/PubMed/19852954" } ] }, { "title": "Planar cell polarity effector gene Fuzzy regulates cilia formation and Hedgehog signal transduction in mouse.", "journal": "Developmental dynamics : an official publication of the American Association of Anatomists", "date": "2009", "authors": "Heydeck W, Zeng H, Liu A", "evidence": [ { "database": "Reactome", "id": "R-HSA-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "19877275", "url": "https://glygen.org/publication/PubMed/19877275" } ] }, { "title": "Identification of a novel serine/threonine kinase ULK3 as a positive regulator of Hedgehog pathway.", "journal": "Experimental cell research", "date": "2010", "authors": "Maloverjan A, Piirsoo M, Michelson P, Kogerman P, Osterlund T", "evidence": [ { "database": "UniProtKB", "id": "P08151", "url": "https://www.uniprot.org/uniprot/P08151" }, { "database": "Reactome", "id": "R-HSA-5632684", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5632684" } ], "reference": [ { "type": "PubMed", "id": "19878745", "url": "https://glygen.org/publication/PubMed/19878745" } ] }, { "title": "Patched regulates Smoothened trafficking using lipoprotein-derived lipids.", "journal": "Development (Cambridge, England)", "date": "2009", "authors": "Khaliullina H, Panakova D, Eugster C, Riedel F, Carvalho M, Eaton S", "evidence": [ { "database": "Reactome", "id": "R-HSA-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "19906846", "url": "https://glygen.org/publication/PubMed/19906846" } ] }, { "title": "Lateral transport of Smoothened from the plasma membrane to the membrane of the cilium.", "journal": "The Journal of cell biology", "date": "2009", "authors": "Milenkovic L, Scott MP, Rohatgi R", "evidence": [ { "database": "Reactome", "id": "R-HSA-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "19948480", "url": "https://glygen.org/publication/PubMed/19948480" } ] }, { "title": "Multiple Ser/Thr-rich degrons mediate the degradation of Ci/Gli by the Cul3-HIB/SPOP E3 ubiquitin ligase.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2009", "authors": "Zhang Q, Shi Q, Chen Y, Yue T, Li S, Wang B, Jiang J", "evidence": [ { "database": "Reactome", "id": "R-HSA-5632684", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5632684" } ], "reference": [ { "type": "PubMed", "id": "19955409", "url": "https://glygen.org/publication/PubMed/19955409" } ] }, { "title": "Gli2 trafficking links Hedgehog-dependent activation of Smoothened in the primary cilium to transcriptional activation in the nucleus.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2009", "authors": "Kim J, Kato M, Beachy PA", "evidence": [ { "database": "Reactome", "id": "R-HSA-5632684", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5632684" } ], "reference": [ { "type": "PubMed", "id": "19996169", "url": "https://glygen.org/publication/PubMed/19996169" } ] }, { "title": "The iguana/DZIP1 protein is a novel component of the ciliogenic pathway essential for axonemal biogenesis.", "journal": "Developmental dynamics : an official publication of the American Association of Anatomists", "date": "2010", "authors": "Tay SY, Yu X, Wong KN, Panse P, Ng CP, Roy S", "evidence": [ { "database": "Reactome", "id": "R-HSA-5632684", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5632684" } ], "reference": [ { "type": "PubMed", "id": "20014402", "url": "https://glygen.org/publication/PubMed/20014402" } ] }, { "title": "Sonic-hedgehog-mediated proliferation requires the localization of PKA to the cilium base.", "journal": "Journal of cell science", "date": "2010", "authors": "Barzi M, Berenguer J, Menendez A, Alvarez-Rodriguez R, Pons S", "evidence": [ { "database": "Reactome", "id": "R-HSA-5632684", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5632684" } ], "reference": [ { "type": "PubMed", "id": "20016067", "url": "https://glygen.org/publication/PubMed/20016067" } ] }, { "title": "PCP effector gene Inturned is an important regulator of cilia formation and embryonic development in mammals.", "journal": "Developmental biology", "date": "2010", "authors": "Zeng H, Hoover AN, Liu A", "evidence": [ { "database": "Reactome", "id": "R-HSA-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "20067783", "url": "https://glygen.org/publication/PubMed/20067783" } ] }, { "title": "Histone deacetylase and Cullin3-REN(KCTD11) ubiquitin ligase interplay regulates Hedgehog signalling through Gli acetylation.", "journal": "Nature cell biology", "date": "2010", "authors": "Canettieri G, Di Marcotullio L, Greco A, Coni S, Antonucci L, Infante P, Pietrosanti L, De Smaele E, Ferretti E, Miele E, Pelloni M, De Simone G, Pedone EM, Gallinari P, Giorgi A, Steinkuhler C, Vitagliano L, Pedone C, Schinin ME, Screpanti I, Gulino A", "evidence": [ { "database": "UniProtKB", "id": "P08151", "url": "https://www.uniprot.org/uniprot/P08151" } ], "reference": [ { "type": "PubMed", "id": "20081843", "url": "https://glygen.org/publication/PubMed/20081843" } ] }, { "title": "Kinetics of hedgehog-dependent full-length Gli3 accumulation in primary cilia and subsequent degradation.", "journal": "Molecular and cellular biology", "date": "2010", "authors": "Wen X, Lai CK, Evangelista M, Hongo JA, de Sauvage FJ, Scales SJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-5632684", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5632684" } ], "reference": [ { "type": "PubMed", "id": "20154143", "url": "https://glygen.org/publication/PubMed/20154143" } ] }, { "title": "Evaluating Smoothened as a G-protein-coupled receptor for Hedgehog signalling.", "journal": "Trends in cell biology", "date": "2010", "authors": "Ayers KL, Therond PP", "evidence": [ { "database": "Reactome", "id": "R-HSA-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "20207148", "url": "https://glygen.org/publication/PubMed/20207148" } ] }, { "title": "The output of Hedgehog signaling is controlled by the dynamic association between Suppressor of Fused and the Gli proteins.", "journal": "Genes & development", "date": "2010", "authors": "Humke EW, Dorn KV, Milenkovic L, Scott MP, Rohatgi R", "evidence": [ { "database": "Reactome", "id": "R-HSA-5632684", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5632684" } ], "reference": [ { "type": "PubMed", "id": "20360384", "url": "https://glygen.org/publication/PubMed/20360384" } ] }, { "title": "The primary cilium: a signalling centre during vertebrate development.", "journal": "Nature reviews. Genetics", "date": "2010", "authors": "Goetz SC, Anderson KV", "evidence": [ { "database": "Reactome", "id": "R-HSA-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "20395968", "url": "https://glygen.org/publication/PubMed/20395968" } ] }, { "title": "Small molecule modulation of HH-GLI signaling: current leads, trials and tribulations.", "journal": "Biochemical pharmacology", "date": "2010", "authors": "Mas C, Ruiz i Altaba A", "evidence": [ { "database": "Reactome", "id": "R-HSA-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "20412786", "url": "https://glygen.org/publication/PubMed/20412786" } ] }, { "title": "Hedgehog pathway-regulated gene networks in cerebellum development and tumorigenesis.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2010", "authors": "Lee EY, Ji H, Ouyang Z, Zhou B, Ma W, Vokes SA, McMahon AP, Wong WH, Scott MP", "evidence": [ { "database": "Reactome", "id": "R-HSA-5632684", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5632684" } ], "reference": [ { "type": "PubMed", "id": "20460306", "url": "https://glygen.org/publication/PubMed/20460306" } ] }, { "title": "Gli2a protein localization reveals a role for Iguana/DZIP1 in primary ciliogenesis and a dependence of Hedgehog signal transduction on primary cilia in the zebrafish.", "journal": "BMC biology", "date": "2010", "authors": "Kim HR, Richardson J, van Eeden F, Ingham PW", "evidence": [ { "database": "Reactome", "id": "R-HSA-5632684", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5632684" } ], "reference": [ { "type": "PubMed", "id": "20487519", "url": "https://glygen.org/publication/PubMed/20487519" } ] }, { "title": "DYRK1B-dependent autocrine-to-paracrine shift of Hedgehog signaling by mutant RAS.", "journal": "Nature structural & molecular biology", "date": "2010", "authors": "Lauth M, Bergstrom A, Shimokawa T, Tostar U, Jin Q, Fendrich V, Guerra C, Barbacid M, Toftgard R", "evidence": [ { "database": "Reactome", "id": "R-HSA-5632684", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5632684" } ], "reference": [ { "type": "PubMed", "id": "20512148", "url": "https://glygen.org/publication/PubMed/20512148" } ] }, { "title": "Dual function of UNC-51-like kinase 3 (Ulk3) in the Sonic hedgehog signaling pathway.", "journal": "The Journal of biological chemistry", "date": "2010", "authors": "Maloverjan A, Piirsoo M, Kasak L, Peil L, Osterlund T, Kogerman P", "evidence": [ { "database": "Reactome", "id": "R-HSA-5632684", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5632684" } ], "reference": [ { "type": "PubMed", "id": "20643644", "url": "https://glygen.org/publication/PubMed/20643644" } ] }, { "title": "Numb activates the E3 ligase Itch to control Gli1 function through a novel degradation signal.", "journal": "Oncogene", "date": "2011", "authors": "Di Marcotullio L, Greco A, Mazza D, Canettieri G, Pietrosanti L, Infante P, Coni S, Moretti M, De Smaele E, Ferretti E, Screpanti I, Gulino A", "evidence": [ { "database": "Reactome", "id": "R-HSA-5610780", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610780" } ], "reference": [ { "type": "PubMed", "id": "20818436", "url": "https://glygen.org/publication/PubMed/20818436" } ] }, { "title": "G protein-coupled receptor kinase 2 promotes high-level Hedgehog signaling by regulating the active state of Smo through kinase-dependent and kinase-independent mechanisms in Drosophila.", "journal": "Genes & development", "date": "2010", "authors": "Chen Y, Li S, Tong C, Zhao Y, Wang B, Liu Y, Jia J, Jiang J", "evidence": [ { "database": "Reactome", "id": "R-HSA-5632684", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5632684" } ], "reference": [ { "type": "PubMed", "id": "20844016", "url": "https://glygen.org/publication/PubMed/20844016" } ] }, { "title": "Computational prediction and experimental verification of new MAP kinase docking sites and substrates including Gli transcription factors.", "journal": "PLoS computational biology", "date": "2010", "authors": "Whisenant TC, Ho DT, Benz RW, Rogers JS, Kaake RM, Gordon EA, Huang L, Baldi P, Bardwell L", "evidence": [ { "database": "iPTMnet", "id": "P08151", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P08151" } ], "reference": [ { "type": "PubMed", "id": "20865152", "url": "https://glygen.org/publication/PubMed/20865152" } ] }, { "title": "TULP3 bridges the IFT-A complex and membrane phosphoinositides to promote trafficking of G protein-coupled receptors into primary cilia.", "journal": "Genes & development", "date": "2010", "authors": "Mukhopadhyay S, Wen X, Chih B, Nelson CD, Lane WS, Scales SJ, Jackson PK", "evidence": [ { "database": "Reactome", "id": "R-HSA-5632684", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5632684" } ], "reference": [ { "type": "PubMed", "id": "20889716", "url": "https://glygen.org/publication/PubMed/20889716" } ] }, { "title": "A mechanism for vertebrate Hedgehog signaling: recruitment to cilia and dissociation of SuFu-Gli protein complexes.", "journal": "The Journal of cell biology", "date": "2010", "authors": "Tukachinsky H, Lopez LV, Salic A", "evidence": [ { "database": "Reactome", "id": "R-HSA-5632684", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5632684" } ], "reference": [ { "type": "PubMed", "id": "20956384", "url": "https://glygen.org/publication/PubMed/20956384" } ] }, { "title": "The GLI gene encodes a nuclear protein which binds specific sequences in the human genome.", "journal": "Molecular and cellular biology", "date": "1990", "authors": "Kinzler KW, Vogelstein B", "evidence": [ { "database": "UniProtKB", "id": "P08151", "url": "https://www.uniprot.org/uniprot/P08151" }, { "database": "Reactome", "id": "R-HSA-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "2105456", "url": "https://glygen.org/publication/PubMed/2105456" } ] }, { "title": "Intraflagellar transport protein 122 antagonizes Sonic Hedgehog signaling and controls ciliary localization of pathway components.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2011", "authors": "Qin J, Lin Y, Norman RX, Ko HW, Eggenschwiler JT", "evidence": [ { "database": "Reactome", "id": "R-HSA-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "21209331", "url": "https://glygen.org/publication/PubMed/21209331" } ] }, { "title": "Sonic Hedgehog dependent phosphorylation by CK1alpha and GRK2 is required for ciliary accumulation and activation of smoothened.", "journal": "PLoS biology", "date": "2011", "authors": "Chen Y, Sasai N, Ma G, Yue T, Jia J, Briscoe J, Jiang J", "evidence": [ { "database": "Reactome", "id": "R-HSA-5632684", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5632684" } ], "reference": [ { "type": "PubMed", "id": "21695114", "url": "https://glygen.org/publication/PubMed/21695114" } ] }, { "title": "Gli proteins in development and disease.", "journal": "Annual review of cell and developmental biology", "date": "2011", "authors": "Hui CC, Angers S", "evidence": [ { "database": "Reactome", "id": "R-HSA-5632684", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5632684" } ], "reference": [ { "type": "PubMed", "id": "21801010", "url": "https://glygen.org/publication/PubMed/21801010" } ] }, { "title": "The antagonistic action of B56-containing protein phosphatase 2As and casein kinase 2 controls the phosphorylation and Gli turnover function of Daz interacting protein 1.", "journal": "The Journal of biological chemistry", "date": "2011", "authors": "Jin Z, Mei W, Strack S, Jia J, Yang J", "evidence": [ { "database": "Reactome", "id": "R-HSA-5632684", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5632684" } ], "reference": [ { "type": "PubMed", "id": "21878643", "url": "https://glygen.org/publication/PubMed/21878643" } ] }, { "title": "Protein kinase A acts at the basal body of the primary cilium to prevent Gli2 activation and ventralization of the mouse neural tube.", "journal": "Development (Cambridge, England)", "date": "2011", "authors": "Tuson M, He M, Anderson KV", "evidence": [ { "database": "Reactome", "id": "R-HSA-5632684", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5632684" } ], "reference": [ { "type": "PubMed", "id": "22007132", "url": "https://glygen.org/publication/PubMed/22007132" } ] }, { "title": "Oxysterols are allosteric activators of the oncoprotein Smoothened.", "journal": "Nature chemical biology", "date": "2012", "authors": "Nachtergaele S, Mydock LK, Krishnan K, Rammohan J, Schlesinger PH, Covey DF, Rohatgi R", "evidence": [ { "database": "Reactome", "id": "R-HSA-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "22231273", "url": "https://glygen.org/publication/PubMed/22231273" } ] }, { "title": "Gli protein nuclear localization signal.", "journal": "Vitamins and hormones", "date": "2012", "authors": "Hatayama M, Aruga J", "evidence": [ { "database": "Reactome", "id": "R-HSA-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "22391300", "url": "https://glygen.org/publication/PubMed/22391300" } ] }, { "title": "Mammalian homologues of Drosophila fused kinase.", "journal": "Vitamins and hormones", "date": "2012", "authors": "Maloverjan A, Piirsoo M", "evidence": [ { "database": "Reactome", "id": "R-HSA-5632684", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5632684" } ], "reference": [ { "type": "PubMed", "id": "22391301", "url": "https://glygen.org/publication/PubMed/22391301" } ] }, { "title": "The crosstalk of mTOR/S6K1 and Hedgehog pathways.", "journal": "Cancer cell", "date": "2012", "authors": "Wang Y, Ding Q, Yen CJ, Xia W, Izzo JG, Lang JY, Li CW, Hsu JL, Miller SA, Wang X, Lee DF, Hsu JM, Huo L, Labaff AM, Liu D, Huang TH, Lai CC, Tsai FJ, Chang WC, Chen CH, Wu TT, Buttar NS, Wang KK, Wu Y, Wang H, Ajani J, Hung MC", "evidence": [ { "database": "iPTMnet", "id": "P08151", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P08151" } ], "reference": [ { "type": "PubMed", "id": "22439934", "url": "https://glygen.org/publication/PubMed/22439934" } ] }, { "title": "The many roles of the conserved eukaryotic Paf1 complex in regulating transcription, histone modifications, and disease states.", "journal": "Biochimica et biophysica acta", "date": "2013", "authors": "Tomson BN, Arndt KM", "evidence": [ { "database": "Reactome", "id": "R-HSA-5632684", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5632684" } ], "reference": [ { "type": "PubMed", "id": "22982193", "url": "https://glygen.org/publication/PubMed/22982193" } ] }, { "title": "The cyclic AMP pathway.", "journal": "Cold Spring Harbor perspectives in biology", "date": "2012", "authors": "Sassone-Corsi P", "evidence": [ { "database": "Reactome", "id": "R-HSA-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "23209152", "url": "https://glygen.org/publication/PubMed/23209152" } ] }, { "title": "The ciliary G-protein-coupled receptor Gpr161 negatively regulates the Sonic hedgehog pathway via cAMP signaling.", "journal": "Cell", "date": "2013", "authors": "Mukhopadhyay S, Wen X, Ratti N, Loktev A, Rangell L, Scales SJ, Jackson PK", "evidence": [ { "database": "Reactome", "id": "R-HSA-5632684", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5632684" } ], "reference": [ { "type": "PubMed", "id": "23332756", "url": "https://glygen.org/publication/PubMed/23332756" } ] }, { "title": "GLI activation by atypical protein kinase C iota/lambda regulates the growth of basal cell carcinomas.", "journal": "Nature", "date": "2013", "authors": "Atwood SX, Li M, Lee A, Tang JY, Oro AE", "evidence": [ { "database": "iPTMnet", "id": "P08151", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P08151" } ], "reference": [ { "type": "PubMed", "id": "23446420", "url": "https://glygen.org/publication/PubMed/23446420" } ] }, { "title": "The mechanisms of Hedgehog signalling and its roles in development and disease.", "journal": "Nature reviews. Molecular cell biology", "date": "2013", "authors": "Briscoe J, Therond PP", "evidence": [ { "database": "Reactome", "id": "R-HSA-5632684", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5632684" } ], "reference": [ { "type": "PubMed", "id": "23719536", "url": "https://glygen.org/publication/PubMed/23719536" } ] }, { "title": "Hedgehog signaling from the primary cilium to the nucleus: an emerging picture of ciliary localization, trafficking and transduction.", "journal": "Current opinion in genetics & development", "date": "2013", "authors": "Nozawa YI, Lin C, Chuang PT", "evidence": [ { "database": "Reactome", "id": "R-HSA-5632684", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5632684" } ], "reference": [ { "type": "PubMed", "id": "23725801", "url": "https://glygen.org/publication/PubMed/23725801" } ] }, { "title": "Centrosomal protein DZIP1 regulates Hedgehog signaling by promoting cytoplasmic retention of transcription factor GLI3 and affecting ciliogenesis.", "journal": "The Journal of biological chemistry", "date": "2013", "authors": "Wang C, Low WC, Liu A, Wang B", "evidence": [ { "database": "Reactome", "id": "R-HSA-5632684", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5632684" } ], "reference": [ { "type": "PubMed", "id": "23955340", "url": "https://glygen.org/publication/PubMed/23955340" } ] }, { "title": "Stabilization of speckle-type POZ protein (Spop) by Daz interacting protein 1 (Dzip1) is essential for Gli turnover and the proper output of Hedgehog signaling.", "journal": "The Journal of biological chemistry", "date": "2013", "authors": "Schwend T, Jin Z, Jiang K, Mitchell BJ, Jia J, Yang J", "evidence": [ { "database": "Reactome", "id": "R-HSA-5632684", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5632684" } ], "reference": [ { "type": "PubMed", "id": "24072710", "url": "https://glygen.org/publication/PubMed/24072710" } ] }, { "title": "Fem1b promotes ubiquitylation and suppresses transcriptional activity of Gli1.", "journal": "Biochemical and biophysical research communications", "date": "2013", "authors": "Gilder AS, Chen YB, Jackson RJ 3rd, Jiang J, Maher JF", "evidence": [ { "database": "UniProtKB", "id": "P08151", "url": "https://www.uniprot.org/uniprot/P08151" } ], "reference": [ { "type": "PubMed", "id": "24076122", "url": "https://glygen.org/publication/PubMed/24076122" } ] }, { "title": "Structural insight into the mutual recognition and regulation between Suppressor of Fused and Gli/Ci.", "journal": "Nature communications", "date": "2013", "authors": "Zhang Y, Fu L, Qi X, Zhang Z, Xia Y, Jia J, Jiang J, Zhao Y, Wu G", "evidence": [ { "database": "UniProtKB", "id": "P08151", "url": "https://www.uniprot.org/uniprot/P08151" } ], "reference": [ { "type": "PubMed", "id": "24217340", "url": "https://glygen.org/publication/PubMed/24217340" } ] }, { "title": "Activation of Smurf E3 ligase promoted by smoothened regulates hedgehog signaling through targeting patched turnover.", "journal": "PLoS biology", "date": "2013", "authors": "Huang S, Zhang Z, Zhang C, Lv X, Zheng X, Chen Z, Sun L, Wang H, Zhu Y, Zhang J, Yang S, Lu Y, Sun Q, Tao Y, Liu F, Zhao Y, Chen D", "evidence": [ { "database": "Reactome", "id": "R-HSA-5632684", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5632684" } ], "reference": [ { "type": "PubMed", "id": "24302888", "url": "https://glygen.org/publication/PubMed/24302888" } ] }, { "title": "Structural basis of SUFU-GLI interaction in human Hedgehog signalling regulation.", "journal": "Acta crystallographica. Section D, Biological crystallography", "date": "2013-12", "authors": "Cherry Amy L, Finta Csaba, Karlstr\u00f6m Mikael, Jin Qianren, Schwend Thomas, Astorga-Wells Juan, Zubarev Roman A, Del Campo Mark, Criswell Angela R, de Sanctis Daniele, Jovine Luca, Toftg\u00e5rd Rune", "evidence": [ { "database": "UniProtKB", "id": "P08151", "url": "https://www.uniprot.org/uniprot/P08151" } ], "reference": [ { "type": "PubMed", "id": "24311597", "url": "https://glygen.org/publication/PubMed/24311597" } ] }, { "title": "Positive and negative regulation of Gli activity by Kif7 in the zebrafish embryo.", "journal": "PLoS genetics", "date": "2013", "authors": "Maurya AK, Ben J, Zhao Z, Lee RT, Niah W, Ng AS, Iyu A, Yu W, Elworthy S, van Eeden FJ, Ingham PW", "evidence": [ { "database": "Reactome", "id": "R-HSA-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "24339784", "url": "https://glygen.org/publication/PubMed/24339784" } ] }, { "title": "EFCAB7 and IQCE regulate hedgehog signaling by tethering the EVC-EVC2 complex to the base of primary cilia.", "journal": "Developmental cell", "date": "2014", "authors": "Pusapati GV, Hughes CE, Dorn KV, Zhang D, Sugianto P, Aravind L, Rohatgi R", "evidence": [ { "database": "Reactome", "id": "R-HSA-5632684", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5632684" } ], "reference": [ { "type": "PubMed", "id": "24582806", "url": "https://glygen.org/publication/PubMed/24582806" } ] }, { "title": "p70S6 kinase mediates breast cancer cell survival in response to surgical wound fluid stimulation.", "journal": "Molecular oncology", "date": "2014", "authors": "Segatto I, Berton S, Sonego M, Massarut S, Fabris L, Armenia J, Mileto M, Colombatti A, Vecchione A, Baldassarre G, Belletti B", "evidence": [ { "database": "iPTMnet", "id": "P08151", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P08151" } ], "reference": [ { "type": "PubMed", "id": "24661902", "url": "https://glygen.org/publication/PubMed/24661902" } ] }, { "title": "G-protein-coupled receptors, Hedgehog signaling and primary cilia.", "journal": "Seminars in cell & developmental biology", "date": "2014", "authors": "Mukhopadhyay S, Rohatgi R", "evidence": [ { "database": "Reactome", "id": "R-HSA-5632684", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5632684" } ], "reference": [ { "type": "PubMed", "id": "24845016", "url": "https://glygen.org/publication/PubMed/24845016" } ] }, { "title": "Overlapping binding sites for importin beta1 and suppressor of fused (SuFu) on glioma-associated oncogene homologue 1 (Gli1) regulate its nuclear localization.", "journal": "The Biochemical journal", "date": "2014", "authors": "Szczepny A, Wagstaff KM, Dias M, Gajewska K, Wang C, Davies RG, Kaur G, Ly-Huynh J, Loveland KL, Jans DA", "evidence": [ { "database": "Reactome", "id": "R-HSA-5632684", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5632684" } ], "reference": [ { "type": "PubMed", "id": "24854174", "url": "https://glygen.org/publication/PubMed/24854174" } ] }, { "title": "Primary cilium and sonic hedgehog signaling during neural tube patterning: role of GPCRs and second messengers.", "journal": "Developmental neurobiology", "date": "2015", "authors": "Pal K, Mukhopadhyay S", "evidence": [ { "database": "Reactome", "id": "R-HSA-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "24863049", "url": "https://glygen.org/publication/PubMed/24863049" } ] }, { "title": "G-protein-coupled receptors and localized signaling in the primary cilium during ventral neural tube patterning.", "journal": "Birth defects research. Part A, Clinical and molecular teratology", "date": "2015", "authors": "Hwang SH, Mukhopadhyay S", "evidence": [ { "database": "Reactome", "id": "R-HSA-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "24917297", "url": "https://glygen.org/publication/PubMed/24917297" } ] }, { "title": "Requirement of Smurf-mediated endocytosis of Patched1 in sonic hedgehog signal reception.", "journal": "eLife", "date": "2014", "authors": "Yue S, Tang LY, Tang Y, Tang Y, Shen QH, Ding J, Chen Y, Zhang Z, Yu TT, Zhang YE, Cheng SY", "evidence": [ { "database": "Reactome", "id": "R-HSA-5632684", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5632684" } ], "reference": [ { "type": "PubMed", "id": "24925320", "url": "https://glygen.org/publication/PubMed/24925320" } ] }, { "title": "The kinesin-4 protein Kif7 regulates mammalian Hedgehog signalling by organizing the cilium tip compartment.", "journal": "Nature cell biology", "date": "2014", "authors": "He M, Subramanian R, Bangs F, Omelchenko T, Liem KF Jr, Kapoor TM, Anderson KV", "evidence": [ { "database": "Reactome", "id": "R-HSA-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "24952464", "url": "https://glygen.org/publication/PubMed/24952464" } ] }, { "title": "AMP-Activated Protein Kinase Directly Phosphorylates and Destabilizes Hedgehog Pathway Transcription Factor GLI1 in Medulloblastoma.", "journal": "Cell reports", "date": "2015", "authors": "Li YH, Luo J, Mosley YY, Hedrick VE, Paul LN, Chang J, Zhang G, Wang YK, Banko MR, Brunet A, Kuang S, Wu JL, Chang CJ, Scott MP, Yang JY", "evidence": [ { "database": "iPTMnet", "id": "P08151", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P08151" } ], "reference": [ { "type": "PubMed", "id": "26190112", "url": "https://glygen.org/publication/PubMed/26190112" } ] }, { "title": "The energy sensor AMPK regulates Hedgehog signaling in human cells through a unique Gli1 metabolic checkpoint.", "journal": "Oncotarget", "date": "2016", "authors": "Di Magno L, Basile A, Coni S, Manni S, Sdruscia G, D'Amico D, Antonucci L, Infante P, De Smaele E, Cucchi D, Ferretti E, Di Marcotullio L, Screpanti I, Canettieri G", "evidence": [ { "database": "iPTMnet", "id": "P08151", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P08151" } ], "reference": [ { "type": "PubMed", "id": "26843621", "url": "https://glygen.org/publication/PubMed/26843621" } ] }, { "title": "The GLI gene is a member of the Kruppel family of zinc finger proteins.", "journal": "Nature", "date": "1988", "authors": "Kinzler KW, Ruppert JM, Bigner SH, Vogelstein B", "evidence": [ { "database": "UniProtKB", "id": "P08151", "url": "https://www.uniprot.org/uniprot/P08151" } ], "reference": [ { "type": "PubMed", "id": "2832761", "url": "https://glygen.org/publication/PubMed/2832761" } ] }, { "title": "Dual degradation signals destruct GLI1: AMPK inhibits GLI1 through \u03b2-TrCP-mediated proteasome degradation.", "journal": "Oncotarget", "date": "2017-07-25", "authors": "Zhang Rui, Huang Sherri Y, Ka-Wai Li Kay, Li Yen-Hsing, Hsu Wei-Hsuan, Zhang Guang Jun, Chang Chun-Ju, Yang Jer-Yen", "evidence": [ { "database": "iPTMnet", "id": "P08151", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P08151" } ], "reference": [ { "type": "PubMed", "id": "28562331", "url": "https://glygen.org/publication/PubMed/28562331" } ] }, { "title": "Identification of a DYRK1A-mediated phosphorylation site within the nuclear localization sequence of the hedgehog transcription factor GLI1.", "journal": "Biochemical and biophysical research communications", "date": "2017", "authors": "Ehe BK, Lamson DR, Tarpley M, Onyenwoke RU, Graves LM, Williams KP", "evidence": [ { "database": "iPTMnet", "id": "P08151", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P08151" } ], "reference": [ { "type": "PubMed", "id": "28735864", "url": "https://glygen.org/publication/PubMed/28735864" } ] }, { "title": "Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects.", "journal": "Am. J. Hum. Genet.", "date": "2017", "authors": "De Mori R, Romani M, D'Arrigo S, Zaki MS, Lorefice E, Tardivo S, Biagini T, Stanley V, Musaev D, Fluss J, Micalizzi A, Nuovo S, Illi B, Chiapparini L, Di Marcotullio L, Issa MY, Anello D, Casella A, Ginevrino M, Leggins AS, Roosing S, Alfonsi R, Rosati J, Schot R, Mancini GMS, Bertini E, Dobyns WB, Mazza T, Gleeson JG, Valente EM", "evidence": [ { "database": "UniProtKB", "id": "P08151", "url": "https://www.uniprot.org/uniprot/P08151" } ], "reference": [ { "type": "PubMed", "id": "28965847", "url": "https://glygen.org/publication/PubMed/28965847" } ] }, { "title": "GLI1 inactivation is associated with developmental phenotypes overlapping with Ellis-van Creveld syndrome.", "journal": "Human molecular genetics", "date": "2017", "authors": "Palencia-Campos A, Ullah A, Nevado J, Yildirim R, Unal E, Ciorraga M, Barruz P, Chico L, Piceci-Sparascio F, Guida V, De Luca A, Kayserili H, Ullah I, Burmeister M, Lapunzina P, Ahmad W, Morales AV, Ruiz-Perez VL", "evidence": [ { "database": "UniProtKB", "id": "P08151", "url": "https://www.uniprot.org/uniprot/P08151" } ], "reference": [ { "type": "PubMed", "id": "28973407", "url": "https://glygen.org/publication/PubMed/28973407" } ] }, { "title": "A triarylphosphine-trimethylpiperidine reagent for the one-step derivatization and enrichment of protein post-translational modifications and identification by mass spectrometry.", "journal": "Chemical communications (Cambridge, England)", "date": "2018", "authors": "Huo B, Zhang W, Zhao X, Dong H, Yu Y, Wang J, Qian X, Qin W", "evidence": [ { "database": "O-GlcNAc Database", "id": "P08151", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P08151" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "title": "Downregulation of ASPP2 promotes gallbladder cancer metastasis and macrophage recruitment via aPKC-iota/GLI1 pathway.", "journal": "Cell death & disease", "date": "2018", "authors": "Tian L, Deng Z, Xu L, Yang T, Yao W, Ji L, Lu Y, Zhang J, Liu Y, Wang J", "evidence": [ { "database": "iPTMnet", "id": "P08151", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P08151" } ], "reference": [ { "type": "PubMed", "id": "30389910", "url": "https://glygen.org/publication/PubMed/30389910" } ] }, { "title": "O-GlcNAcylation of GLI transcription factors in hyperglycemic conditions augments Hedgehog activity.", "journal": "Laboratory investigation; a journal of technical methods and pathology", "date": "2019", "authors": "Das S, Bailey SK, Metge BJ, Hanna A, Hinshaw DC, Mota M, Forero-Torres A, Chatham JC, Samant RS, Shevde LA", "evidence": [ { "database": "O-GlcNAc Database", "id": "P08151", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P08151" } ], "reference": [ { "type": "PubMed", "id": "30420690", "url": "https://glygen.org/publication/PubMed/30420690" } ] }, { "title": "A novel homozygous sequence variant in GLI1 underlies first case of autosomal recessive pre-axial polydactyly.", "journal": "Clinical genetics", "date": "2019", "authors": "Ullah A, Umair M, Majeed AI, Abdullah, Jan A, Ahmad W", "evidence": [ { "database": "UniProtKB", "id": "P08151", "url": "https://www.uniprot.org/uniprot/P08151" } ], "reference": [ { "type": "PubMed", "id": "30620395", "url": "https://glygen.org/publication/PubMed/30620395" } ] }, { "title": "Identification of GLI1 and KIAA0825 Variants in Two Families with Postaxial Polydactyly.", "journal": "Genes", "date": "2023-04-05", "authors": "Ahmad Safeer, Ali Muhammad Zeeshan, Muzammal Muhammad, Khan Amjad Ullah, Ikram Muhammad, Muurinen Mari, Hussain Shabir, Loid Petra, Khan Muzammil Ahmad, M\u00e4kitie Outi", "evidence": [ { "database": "RefSeq", "id": "NP_001153517", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001153517" } ], "reference": [ { "type": "PubMed", "id": "37107627", "url": "https://glygen.org/publication/PubMed/37107627" } ] }, { "title": "Gli1 promotes the phenotypic transformation of valve interstitial cells through Hedgehog pathway activation exacerbating calcific aortic valve disease.", "journal": "International journal of biological sciences", "date": "2023", "authors": "Huang Yuming, Jiang Chen, Chen Liang, Han Juanjuan, Liu Ming, Zhou Tingwen, Dong Nianguo, Xu Kang", "evidence": [ { "database": "RefSeq", "id": "NP_001153517", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001153517" } ], "reference": [ { "type": "PubMed", "id": "37151880", "url": "https://glygen.org/publication/PubMed/37151880" } ] }, { "title": "MALAT1 functions as a transcriptional promoter of MALAT1::GLI1 fusion for truncated GLI1 protein expression in cancer.", "journal": "BMC cancer", "date": "2023-05-10", "authors": "Hamada Taiji, Higashi Michiyo, Yokoyama Seiya, Akahane Toshiaki, Hisaoka Masanori, Noguchi Hirotsugu, Furukawa Tatsuhiko, Tanimoto Akihide", "evidence": [ { "database": "RefSeq", "id": "NP_001153517", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001153517" } ], "reference": [ { "type": "PubMed", "id": "37165307", "url": "https://glygen.org/publication/PubMed/37165307" } ] }, { "title": "Extracellular arginine availability modulates eIF2\u03b1 O-GlcNAcylation and heme oxygenase 1 translation for cellular homeostasis.", "journal": "Journal of biomedical science", "date": "2023-05-22", "authors": "Hung Yu-Wen, Ouyang Ching, Ping Xiaoli, Qi Yue, Wang Yi-Chang, Kung Hsing-Jien, Ann David K", "evidence": [ { "database": "O-GlcNAc Database", "id": "P08151", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P08151" } ], "reference": [ { "type": "PubMed", "id": "37217939", "url": "https://glygen.org/publication/PubMed/37217939" } ] }, { "title": "FUNDC2, a mitochondrial outer membrane protein, mediates triple-negative breast cancer progression via the AKT/GSK3\u03b2/GLI1 pathway.", "journal": "Acta biochimica et biophysica Sinica", "date": "2023-09-11", "authors": "Yin Liyang, Cao Renxian, Liu Zhuoqing, Luo Gang, Li Yu, Zhou Xiaolong, Chen Xiguang, Wu Ying, He Jun, Zu Xuyu, Shen Yingying", "evidence": [ { "database": "RefSeq", "id": "NP_001153517", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001153517" } ], "reference": [ { "type": "PubMed", "id": "37700593", "url": "https://glygen.org/publication/PubMed/37700593" } ] }, { "title": "FOXS1 promotes prostate cancer progression through the Hedgehog/Gli1 pathway.", "journal": "Biochemical pharmacology", "date": "2023-12", "authors": "Wang Minyu, Huang Wanying", "evidence": [ { "database": "RefSeq", "id": "NP_001153517", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001153517" } ], "reference": [ { "type": "PubMed", "id": "37890593", "url": "https://glygen.org/publication/PubMed/37890593" } ] }, { "title": "Crystal structure of a five-finger GLI-DNA complex: new perspectives on zinc fingers.", "journal": "Science (New York, N.Y.)", "date": "1993-09-24", "authors": "Pavletich N P, Pabo C O", "evidence": [ { "database": "UniProtKB", "id": "P08151", "url": "https://www.uniprot.org/uniprot/P08151" } ], "reference": [ { "type": "PubMed", "id": "8378770", "url": "https://glygen.org/publication/PubMed/8378770" } ] }, { "title": "Suppressor of fused links fused and Cubitus interruptus on the hedgehog signalling pathway.", "journal": "Current biology : CB", "date": "1998", "authors": "Monnier V, Dussillol F, Alves G, Lamour-Isnard C, Plessis A", "evidence": [ { "database": "Reactome", "id": "R-HSA-5632684", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5632684" } ], "reference": [ { "type": "PubMed", "id": "9601642", "url": "https://glygen.org/publication/PubMed/9601642" } ] }, { "title": "Hedgehog stimulates maturation of Cubitus interruptus into a labile transcriptional activator.", "journal": "Nature", "date": "1998", "authors": "Ohlmeyer JT, Kalderon D", "evidence": [ { "database": "Reactome", "id": "R-HSA-5632684", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5632684" } ], "reference": [ { "type": "PubMed", "id": "9874371", "url": "https://glygen.org/publication/PubMed/9874371" } ] } ], "pathway": [ { "id": "hsa:2735", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:2735", "resource": "KEGG Pathway" }, { "id": "R-HSA-5610780", "name": "Degradation of GLI1 by the proteasome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610780", "resource": "Reactome", "description": "Degradation of GLI1 by the proteasome" }, { "id": "R-HSA-5610787", "name": "Hedgehog 'off' state", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787", "resource": "Reactome", "description": "Hedgehog 'off' state" }, { "id": "R-HSA-5632684", "name": "Hedgehog 'on' state", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5632684", "resource": "Reactome", "description": "Hedgehog 'on' state" }, { "id": "R-HSA-5635851", "name": "GLI proteins bind promoters of Hh responsive genes to promote transcription", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5635851", "resource": "Reactome", "description": "GLI proteins bind promoters of Hh responsive genes to promote transcription" } ], "orthologs": [ { "uniprot_canonical_ac": "G3V6X8-1", "protein_name": "GLI family zinc finger 1", "gene_name": "Gli1", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MFNPMTSPQVNSYGEPCCLRPLPSQGVPSMGTEGLSGLPFCHQANFMSGSQGYGSARETSSCTEGSLFPPPRSSVKLTKKRALSISPLSDASLDLQTVIRTSPSSLVAFINSRCTSPGGSYGHLSIGTMSPSLGFPPQMSHQKGTSPPYGVQPCVPHDSTQGSMMLHPQSRGPRATCQLKSELDIMVGKCPEEPLEGDMSSPNSTSTQDHLLGMLDGREDLEREEKPEPESVYETDCRWDGCSQEFDSQEQLVHHINSEHIHGERKEFVCHWGGCSRELRPFKAQYMLVVHMRRHTGEKPHKCTFEGCRKSYSRLENLKTHLRSHTGEKPYMCEQEGCSKAFSNASDRAKHQNRTHSNEKPYVCKLPGCTKRYTDPSSLRKHVKTVHGPDAHVTKRHRGDGPLPRAQPLSTVEPKREREGGSGREESRLTVPEGTMPQQSPGAQSSCSSDHSPAGSAANTDSGVEMAGNAGGSTEDLSSLDEGPCVAATGLSTLRRLENLRLDQLHQLRPIGSRGLKLPSLTHAGAPVSRRLGPPVSLDRRSSSSSSISSAYTVSRRSSLASPFPPGSPPENGASSLPGLTPAQHYMLRARYASARGSGTPPTAAHSLDRIGGLPAPPWRSRAEYPGYNPNAGVTRRASDPARAADHPAPARVQRFKSLGCVHTPPSVATGRNFDPHLPTSVYSPQPPSITENVAMDTRGLQGELEVGTSMMGNDLNPYMDFSSADTLGYGGPEGTAAESYGSKGPGSLPLGPGPPTNYGPGHCAQQVSYPDPTPETWGEFPSHAGVYPGTKALGTAYNQCPRLEHYGQVQVKPEQGCPVGSDSTGLAPCLNAHPSEGSPDPQPLFSHHSQLPPPQYLQSGPYPQPPHDCLSLESRPGLNFNPSSHSTGQLKAQLLCNYVQSQQELLWEGRSRGGIPNQELPYQSPKFLGGSQVSQSPTKVPAAAAAATFGSGFASPALANHKSVSYPAPSPCHETFTMGVNRPPHRPAAPPRLLPPLPPCYGPLKVGDANPSCGHPEVGRLGAGPALYPPPEGQVCNPLDSLDLDNTQLDFVAILDEAQGLSPPPSHEQGDSSKNTPPPSGPPNMAVGNMSVLLGSLPGETQFLNSSA", "length": 1109 }, "evidence": [ { "id": "45917709", "url": "http://www.informatics.jax.org/homology/45917709", "database": "MGI" }, { "id": "P08151", "url": "https://omabrowser.org/oma/group/P08151/", "database": "OMA" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "P47806-1", "protein_name": "Zinc finger protein GLI1", "gene_name": "Gli1", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MFNPMTPPQVNSYSEPCCLRPLHSQGVPSMGTEGLSGLPFCHQANFMSGSQGYGAARETSSCTEGSLFPPPPPPRSSVKLTKKRALSISPLSDASLDLQTVIRTSPSSLVAFINSRCTSPGGSYGHLSIGTMSPSLGFPPQMSHQKGTSPPYGVQPCVPHDSTRGSMMLHPQSRGPRATCQLKSELDMMVGKCPEDPLEGDMSSPNSTGTQDHLLGMLDGREDLEREEKPEPESVYETDCRWDGCSQEFDSQEQLVHHINSEHIHGERKEFVCHWGGCSRELRPFKAQYMLVVHMRRHTGEKPHKCTFEGCRKSYSRLENLKTHLRSHTGEKPYMCEQEGCSKAFSNASDRAKHQNRTHSNEKPYVCKLPGCTKRYTDPSSLRKHVKTVHGPDAHVTKRHRGDGPLPRAQPLSTVEPKREREGGSGREESRLTVPESAMPQQSPGAQSSCSSDHSPAGSAANTDSGVEMAGNAGGSTEDLSSLDEGPCVSATGLSTLRRLENLRLDQLHQLRPIGSRGLKLPSLTHAGAPVSRRLGPPVSLDRRSSSSSSMSSAYTVSRRSSLASPFPPGTPPENGASSLPGLTPAQHYMLRARYASARGSGTPPTAAHSLDRMGGLSVPPWRSRTEYPGYNPNAGVTRRASDPARAADHPAPARVQRFKSLGCVHTPPSVATGRNFDPHHPTSVYSPQPPSITENVAMDTRGLQEEPEVGTSVMGNGLNPYMDFSSTDTLGYGGPEGTAAEPYEARGPGSLPLGPGPPTNYGPGHCAQQVSYPDPTPENWGEFPSHAGVYPSNKAPGAAYSQCPRLEHYGQVQVKPEQGCPVGSDSTGLAPCLNAHPSEGSPGPQPLFSHHPQLPQPQYPQSGPYPQPPHGYLSTEPRLGLNFNPSSSHSTGQLKAQLVCNYVQSQQELLWEGRNRGGLPNQELPYQSPKFLGGSQVSQSPAKTPAAAAAAYGSGFAPASANHKSGSYPAPSPCHETFTVGVNRPSHRPAAPPRLLPPLSPCYGPLKVGDTNPSCGHPEVGRLGAGPALYPPPEGQVCNALDSLDLDNTQLDFVAILDEAQGLSPPLSHEQGDSSKNTPSPSGPPNMAVGNMSVLLGSLPGETQFLNSSA", "length": 1111 }, "evidence": [ { "id": "45917709", "url": "http://www.informatics.jax.org/homology/45917709", "database": "MGI" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 8, "go_terms": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P08151", "url": "https://www.uniprot.org/uniprot/P08151" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "P08151", "url": "https://www.uniprot.org/uniprot/P08151" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P08151", "url": "https://www.uniprot.org/uniprot/P08151" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P08151", "url": "https://www.uniprot.org/uniprot/P08151" } ], "pmid": "" }, { "name": "axoneme", "id": "GO:0005930", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005930", "evidence": [ { "database": "UniProtKB", "id": "P08151", "url": "https://www.uniprot.org/uniprot/P08151" } ], "pmid": "" }, { "name": "ciliary base", "id": "GO:0097546", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097546", "evidence": [ { "database": "UniProtKB", "id": "P08151", "url": "https://www.uniprot.org/uniprot/P08151" } ], "pmid": "" }, { "name": "ciliary tip", "id": "GO:0097542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097542", "evidence": [ { "database": "UniProtKB", "id": "P08151", "url": "https://www.uniprot.org/uniprot/P08151" } ], "pmid": "" }, { "name": "GLI-SUFU complex", "id": "GO:1990788", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990788", "evidence": [ { "database": "UniProtKB", "id": "P08151", "url": "https://www.uniprot.org/uniprot/P08151" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 28, "go_terms": [ { "name": "regulation of transcription by RNA polymerase II", "id": "GO:0006357", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006357", "evidence": [ { "database": "UniProtKB", "id": "P08151", "url": "https://www.uniprot.org/uniprot/P08151" } ], "pmid": "" }, { "name": "positive regulation of smoothened signaling pathway", "id": "GO:0045880", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045880", "evidence": [ { "database": "UniProtKB", "id": "P08151", "url": "https://www.uniprot.org/uniprot/P08151" } ], "pmid": "" }, { "name": "ventral midline development", "id": "GO:0007418", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007418", "evidence": [ { "database": "UniProtKB", "id": "P08151", "url": "https://www.uniprot.org/uniprot/P08151" } ], "pmid": "" }, { "name": "epidermal cell differentiation", "id": "GO:0009913", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009913", "evidence": [ { "database": "UniProtKB", "id": "P08151", "url": "https://www.uniprot.org/uniprot/P08151" } ], "pmid": "" }, { "name": "cerebellar cortex morphogenesis", "id": "GO:0021696", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021696", "evidence": [ { "database": "UniProtKB", "id": "P08151", "url": "https://www.uniprot.org/uniprot/P08151" } ], "pmid": "" }, { "name": "notochord regression", "id": "GO:0060032", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060032", "evidence": [ { "database": "UniProtKB", "id": "P08151", "url": "https://www.uniprot.org/uniprot/P08151" } ], "pmid": "" }, { "name": "regulation of hepatocyte proliferation", "id": "GO:2000345", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000345", "evidence": [ { "database": "UniProtKB", "id": "P08151", "url": "https://www.uniprot.org/uniprot/P08151" } ], "pmid": "" }, { "name": "positive regulation of cell population proliferation", "id": "GO:0008284", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008284", "evidence": [ { "database": "UniProtKB", "id": "P08151", "url": "https://www.uniprot.org/uniprot/P08151" } ], "pmid": "" }, { "name": "positive regulation of cell migration", "id": "GO:0030335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030335", "evidence": [ { "database": "UniProtKB", "id": "P08151", "url": "https://www.uniprot.org/uniprot/P08151" } ], "pmid": "" }, { "name": "positive regulation of transcription by RNA polymerase II", "id": "GO:0045944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045944", "evidence": [ { "database": "UniProtKB", "id": "P08151", "url": "https://www.uniprot.org/uniprot/P08151" } ], "pmid": "" }, { "name": "negative regulation of canonical Wnt signaling pathway", "id": "GO:0090090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090090", "evidence": [ { "database": "UniProtKB", "id": "P08151", "url": "https://www.uniprot.org/uniprot/P08151" } ], "pmid": "" }, { "name": "lung development", "id": "GO:0030324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030324", "evidence": [ { "database": "UniProtKB", "id": "P08151", "url": "https://www.uniprot.org/uniprot/P08151" } ], "pmid": "" }, { "name": "spermatid development", "id": "GO:0007286", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007286", "evidence": [ { "database": "UniProtKB", "id": "P08151", "url": "https://www.uniprot.org/uniprot/P08151" } ], "pmid": "" }, { "name": "response to wounding", "id": "GO:0009611", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009611", "evidence": [ { "database": "UniProtKB", "id": "P08151", "url": "https://www.uniprot.org/uniprot/P08151" } ], "pmid": "" }, { "name": "positive regulation of DNA-templated transcription", "id": "GO:0045893", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045893", "evidence": [ { "database": "UniProtKB", "id": "P08151", "url": "https://www.uniprot.org/uniprot/P08151" } ], "pmid": "" }, { "name": "proximal/distal pattern formation", "id": "GO:0009954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009954", "evidence": [ { "database": "UniProtKB", "id": "P08151", "url": "https://www.uniprot.org/uniprot/P08151" } ], "pmid": "" }, { "name": "pituitary gland development", "id": "GO:0021983", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021983", "evidence": [ { "database": "UniProtKB", "id": "P08151", "url": "https://www.uniprot.org/uniprot/P08151" } ], "pmid": "" }, { "name": "digestive tract morphogenesis", "id": "GO:0048546", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048546", "evidence": [ { "database": "UniProtKB", "id": "P08151", "url": "https://www.uniprot.org/uniprot/P08151" } ], "pmid": "" }, { "name": "osteoblast differentiation", "id": "GO:0001649", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001649", "evidence": [ { "database": "UniProtKB", "id": "P08151", "url": "https://www.uniprot.org/uniprot/P08151" } ], "pmid": "" }, { "name": "prostate gland development", "id": "GO:0030850", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030850", "evidence": [ { "database": "UniProtKB", "id": "P08151", "url": "https://www.uniprot.org/uniprot/P08151" } ], "pmid": "" }, { "name": "dorsal/ventral pattern formation", "id": "GO:0009953", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009953", "evidence": [ { "database": "UniProtKB", "id": "P08151", "url": "https://www.uniprot.org/uniprot/P08151" } ], "pmid": "" }, { "name": "smoothened signaling pathway", "id": "GO:0007224", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007224", "evidence": [ { "database": "UniProtKB", "id": "P08151", "url": "https://www.uniprot.org/uniprot/P08151" } ], "pmid": "" }, { "name": "regulation of smoothened signaling pathway", "id": "GO:0008589", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008589", "evidence": [ { "database": "UniProtKB", "id": "P08151", "url": "https://www.uniprot.org/uniprot/P08151" } ], "pmid": "" }, { "name": "positive regulation of DNA replication", "id": "GO:0045740", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045740", "evidence": [ { "database": "UniProtKB", "id": "P08151", "url": "https://www.uniprot.org/uniprot/P08151" } ], "pmid": "" }, { "name": "liver regeneration", "id": "GO:0097421", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097421", "evidence": [ { "database": "UniProtKB", "id": "P08151", "url": "https://www.uniprot.org/uniprot/P08151" } ], "pmid": "" }, { "name": "positive regulation of cell cycle G1/S phase transition", "id": "GO:1902808", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902808", "evidence": [ { "database": "UniProtKB", "id": "P08151", "url": "https://www.uniprot.org/uniprot/P08151" } ], "pmid": "" }, { "name": "regulation of osteoblast differentiation", "id": "GO:0045667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045667", "evidence": [ { "database": "UniProtKB", "id": "P08151", "url": "https://www.uniprot.org/uniprot/P08151" } ], "pmid": "" }, { "name": "positive regulation of cardiac muscle cell proliferation", "id": "GO:0060045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060045", "evidence": [ { "database": "UniProtKB", "id": "P08151", "url": "https://www.uniprot.org/uniprot/P08151" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 10, "go_terms": [ { "name": "RNA polymerase II transcription regulatory region sequence-specific DNA binding", "id": "GO:0000977", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000977", "evidence": [ { "database": "UniProtKB", "id": "P08151", "url": "https://www.uniprot.org/uniprot/P08151" } ], "pmid": "" }, { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "P08151", "url": "https://www.uniprot.org/uniprot/P08151" } ], "pmid": "" }, { "name": "chromatin binding", "id": "GO:0003682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003682", "evidence": [ { "database": "UniProtKB", "id": "P08151", "url": "https://www.uniprot.org/uniprot/P08151" } ], "pmid": "" }, { "name": "microtubule binding", "id": "GO:0008017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008017", "evidence": [ { "database": "UniProtKB", "id": "P08151", "url": "https://www.uniprot.org/uniprot/P08151" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "P08151", "url": "https://www.uniprot.org/uniprot/P08151" } ], "pmid": "" }, { "name": "transcription cis-regulatory region binding", "id": "GO:0000976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000976", "evidence": [ { "database": "UniProtKB", "id": "P08151", "url": "https://www.uniprot.org/uniprot/P08151" } ], "pmid": "" }, { "name": "RNA polymerase II cis-regulatory region sequence-specific DNA binding", "id": "GO:0000978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000978", "evidence": [ { "database": "UniProtKB", "id": "P08151", "url": "https://www.uniprot.org/uniprot/P08151" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity, RNA polymerase II-specific", "id": "GO:0000981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000981", "evidence": [ { "database": "UniProtKB", "id": "P08151", "url": "https://www.uniprot.org/uniprot/P08151" } ], "pmid": "" }, { "name": "sequence-specific DNA binding", "id": "GO:0043565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043565", "evidence": [ { "database": "UniProtKB", "id": "P08151", "url": "https://www.uniprot.org/uniprot/P08151" } ], "pmid": "" }, { "name": "DNA-binding transcription activator activity, RNA polymerase II-specific", "id": "GO:0001228", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001228", "evidence": [ { "database": "UniProtKB", "id": "P08151", "url": "https://www.uniprot.org/uniprot/P08151" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 1087, "end_pos": 1089, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1103, "end_pos": 1105, "annotation": "n_glycosylation_sequon" }, { "start_pos": 203, "end_pos": 205, "annotation": "n_glycosylation_sequon" }, { "start_pos": 344, "end_pos": 346, "annotation": "n_glycosylation_sequon" }, { "start_pos": 353, "end_pos": 355, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [ { "annotation": "Acetylation at Lys-518 down-regulates transcriptional activity. Deacetylated by HDAC1.", "evidence": [ { "database": "UniProtKB", "id": "P08151", "url": "https://www.uniprot.org/uniprot/P08151" }, { "database": "PubMed", "id": "20081843", "url": "https://glygen.org/publication/PubMed/20081843" } ] }, { "annotation": "Phosphorylated in vitro by ULK3.", "evidence": [ { "database": "UniProtKB", "id": "P08151", "url": "https://www.uniprot.org/uniprot/P08151" }, { "database": "PubMed", "id": "19878745", "url": "https://glygen.org/publication/PubMed/19878745" } ] }, { "annotation": "Ubiquitinated by the CRL2(FEM1B) complex, suppressing GLI1 transcriptional activator activity.", "evidence": [ { "database": "UniProtKB", "id": "P08151", "url": "https://www.uniprot.org/uniprot/P08151" }, { "database": "PubMed", "id": "24076122", "url": "https://glygen.org/publication/PubMed/24076122" } ] } ], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "sequence_features": { "n_linked_sites": [], "o_linked_sites": [], "snv_sites": [ 637 ], "glycation_sites": [], "phosphorylation_sites": [ 84, 102, 130, 243, 304, 408, 1074 ], "sequon_annotation_sites": [ { "start_pos": 1087, "end_pos": 1089 }, { "start_pos": 1103, "end_pos": 1105 }, { "start_pos": 203, "end_pos": 205 }, { "start_pos": 344, "end_pos": 346 }, { "start_pos": 353, "end_pos": 355 } ] }, "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": 11 }, { "field": "total_sites", "count": 7 } ], "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": 1 }, { "field": "total_sites", "count": 1 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 155 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }