{ "uniprot_canonical_ac": "P10071-1", "uniprot_ac": "P10071", "uniprot_id": "GLI3_HUMAN", "mass": { "chemical_mass": 169863.0, "monoisotopic_mass": 169863.0 }, "refseq": { "ac": "NP_000159", "name": "transcriptional activator GLI3", "summary": "This gene encodes a protein which belongs to the C2H2-type zinc finger proteins subclass of the Gli family. They are characterized as DNA-binding transcription factors and are mediators of Sonic hedgehog (Shh) signaling. The protein encoded by this gene localizes in the cytoplasm and activates patched Drosophila homolog (PTCH) gene expression. It is also thought to play a role during embryogenesis. Mutations in this gene have been associated with several diseases, including Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome, preaxial polydactyly type IV, and postaxial polydactyly types A1 and B. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000159" }, "gene_names": [ { "name": "GLI3", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P10071", "id": "P10071" }, { "name": "ACLS; GCPS; GLI3-190; GLI3FL; PAP-A; PAPA; PAPA1; PAPB; PHS; PPDIV", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000159", "id": "NP_000159" }, { "name": "GLI3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000159", "id": "NP_000159" } ], "protein_names": [ { "name": "Transcriptional activator GLI3", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P10071" }, { "name": "GLI3 C-terminally truncated form", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P10071" }, { "name": "GLI3 form of 190 kDa", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P10071" }, { "name": "GLI3 form of 83 kDa", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P10071" }, { "name": "GLI3 full-length protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P10071" }, { "name": "GLI3-190", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P10071" }, { "name": "GLI3-83", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P10071" }, { "name": "GLI3FL", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P10071" }, { "name": "transcriptional activator GLI3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000159", "id": "NP_000159" }, { "name": "zinc finger protein GLI3; glioma-associated oncogene family zinc finger 3; GLI-Kruppel family member GLI3; oncogene GLI3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000159", "id": "NP_000159" } ], "function": [ { "annotation": "A novel mechanism of regulation of the oncogenic transcription factor GLI3 by toll-like receptor signaling. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000159", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000159" }, { "database": "PubMed", "id": "35937499", "url": "https://glygen.org/publication/PubMed/35937499" } ] }, { "annotation": "A novel variant of GLI3, p.Asp1514Thrfs*5, is identified in a Chinese family affected by polydactyly.", "evidence": [ { "database": "RefSeq", "id": "NP_000159", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000159" }, { "database": "PubMed", "id": "35546307", "url": "https://glygen.org/publication/PubMed/35546307" } ] }, { "annotation": "Conclusion of diagnostic odysseys due to inversions disrupting GLI3 and FBN1.", "evidence": [ { "database": "RefSeq", "id": "NP_000159", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000159" }, { "database": "PubMed", "id": "36411030", "url": "https://glygen.org/publication/PubMed/36411030" } ] }, { "annotation": "Has a dual function as a transcriptional activator and a repressor of the sonic hedgehog (Shh) pathway, and plays a role in limb development. The full-length GLI3 form (GLI3FL) after phosphorylation and nuclear translocation, acts as an activator (GLI3A) while GLI3R, its C-terminally truncated form, acts as a repressor. A proper balance between the GLI3 activator and the repressor GLI3R, rather than the repressor gradient itself or the activator/repressor ratio gradient, specifies limb digit number and identity. In concert with TRPS1, plays a role in regulating the size of the zone of distal chondrocytes, in restricting the zone of PTHLH expression in distal cells and in activating chondrocyte proliferation. Binds to the minimal GLI-consensus sequence 5'-GGGTGGTC-3'.", "evidence": [ { "database": "UniProtKB", "id": "P10071", "url": "https://www.uniprot.org/uniprot/P10071#function" }, { "database": "PubMed", "id": "17764085", "url": "https://glygen.org/publication/PubMed/17764085" }, { "database": "PubMed", "id": "10693759", "url": "https://glygen.org/publication/PubMed/10693759" }, { "database": "PubMed", "id": "11238441", "url": "https://glygen.org/publication/PubMed/11238441" } ] }, { "annotation": "This gene encodes a protein which belongs to the C2H2-type zinc finger proteins subclass of the Gli family. They are characterized as DNA-binding transcription factors and are mediators of Sonic hedgehog (Shh) signaling. The protein encoded by this gene localizes in the cytoplasm and activates patched Drosophila homolog (PTCH) gene expression. It is also thought to play a role during embryogenesis. Mutations in this gene have been associated with several diseases, including Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome, preaxial polydactyly type IV, and postaxial polydactyly types A1 and B. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_000159", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000159" } ] }, { "annotation": "Two nonsense GLI3 variants are associated with polydactyly and syndactyly in two families by affecting the sonic hedgehog signaling pathway.", "evidence": [ { "database": "RefSeq", "id": "NP_000159", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000159" }, { "database": "PubMed", "id": "35218158", "url": "https://glygen.org/publication/PubMed/35218158" } ] } ], "disease": [ { "disease_id": "DOID:1148", "recommended_name": { "id": "DOID:1148", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1148", "name": "polydactyly", "description": "A physical disorder that is characterized by the presence of more than five fingers per hand or five toes per foot." }, "synonyms": [ { "id": "DOID:1148", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1148", "name": "postaxial polydactyly", "description": "" }, { "id": "MONDO:0008272", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008272", "name": "polysyndactyly 4", "description": "Polysyndactyly or PPD4 is a form of preaxial polydactyly of fingers, a limb malformation syndrome, characterized by the presence of a thumb showing the mildest degree of duplication, being broad, bifid or with radially deviated distal phalanx. Syndactyly of various degrees of third-and-fourth fingers is occasionally present." }, { "id": "MONDO:0008272", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008272", "name": "PPD4", "description": "" }, { "id": "MONDO:0008272", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008272", "name": "polydactyly, preaxial type 4", "description": "" }, { "id": "MONDO:0008272", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008272", "name": "polydactyly, preaxial, type IV", "description": "" }, { "id": "MONDO:0008272", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008272", "name": "preaxial polydactyly type 4", "description": "" }, { "id": "MONDO:0008272", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008272", "name": "crossed polydactyly type 1", "description": "" }, { "id": "MONDO:0008272", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008272", "name": "crossed polydactyly, type 1", "description": "" }, { "id": "MONDO:0008272", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008272", "name": "polydactyly preaxial 4", "description": "" }, { "id": "MONDO:0008272", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008272", "name": "polydactyly, preaxial 4", "description": "" }, { "id": "MONDO:0008272", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008272", "name": "polydactyly, preaxial IV", "description": "" }, { "id": "MONDO:0008272", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008272", "name": "polysyndactyly uncomplicated", "description": "" }, { "id": "MONDO:0008272", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008272", "name": "polysyndactyly, uncomplicated", "description": "" }, { "id": "MONDO:0008272", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008272", "name": "preaxial polydactyly 4", "description": "" }, { "id": "MONDO:0021003", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021003", "name": "polydactyly", "description": "A disease characterized by the presence of polydactyly, including syndromic and non-syndromic forms." }, { "id": "MONDO:0021003", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021003", "name": "hyperdactyly", "description": "" }, { "id": "MONDO:0021003", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021003", "name": "polydactylism", "description": "" }, { "id": "MONDO:0021003", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021003", "name": "polydactyly", "description": "" }, { "id": "MONDO:0021003", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021003", "name": "polydactyly (disease)", "description": "" }, { "id": "MONDO:0021003", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021003", "name": "postaxial polydactyly", "description": "" }, { "id": "MONDO:0021003", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021003", "name": "supernumerary digit", "description": "" }, { "id": "MONDO:0008266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008266", "name": "polydactyly, postaxial, type A1", "description": "" }, { "id": "MONDO:0008266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008266", "name": "polydactyly, postaxial, type A1", "description": "" }, { "id": "MONDO:0008266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008266", "name": "polydactyly, postaxial, types A1 and B", "description": "" }, { "id": "MONDO:0008266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008266", "name": "PAPA1", "description": "" }, { "id": "MONDO:0008266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008266", "name": "polydactyly, postaxial", "description": "" }, { "id": "MONDO:0008266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008266", "name": "postaxial polydactyly, type A", "description": "" }, { "id": "MONDO:0008266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008266", "name": "postaxial polydactyly, type B", "description": "" }, { "id": "MONDO:0008270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008270", "name": "polydactyly of a triphalangeal thumb", "description": "A form of preaxial polydactyly of fingers, a limb malformation syndrome, that is characterized by the presence of a usually opposable triphalangeal thumb with or without additional duplication of one or more skeletal components of the thumb. The thumb appearance can differ widely in shape (wedge to rectangular) or it can be deviated in the radio-ulnar plane (clinodactyly). PPD2 is also associated with systemic syndromes, including Holt-Oram syndrome and Fanconi anemia." }, { "id": "MONDO:0008270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008270", "name": "PPD2", "description": "" }, { "id": "MONDO:0008270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008270", "name": "polydactyly, preaxial type 2", "description": "" }, { "id": "MONDO:0008270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008270", "name": "polydactyly, preaxial type II", "description": "" }, { "id": "MONDO:0008270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008270", "name": "preaxial polydactyly type 2", "description": "" }, { "id": "MONDO:0008270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008270", "name": "triphalangeal thumb, type i", "description": "" }, { "id": "MONDO:0008270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008270", "name": "TPT-PS syndrome", "description": "" }, { "id": "MONDO:0008270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008270", "name": "polydactyly of triphalangeal thumb", "description": "" }, { "id": "MONDO:0008270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008270", "name": "polydactyly, preaxial 2", "description": "" }, { "id": "MONDO:0008270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008270", "name": "polydactyly, preaxial II", "description": "" }, { "id": "MONDO:0008270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008270", "name": "triphalangeal thumb", "description": "" }, { "id": "MONDO:0008270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008270", "name": "triphalangeal thumb with polysyndactyly", "description": "" }, { "id": "MONDO:0008270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008270", "name": "triphalangeal thumb-polydactyly syndrome", "description": "" }, { "id": "MONDO:0008270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008270", "name": "triphalangeal thumb-polysyndactyly syndrome", "description": "" }, { "id": "MIM:174700", "resource": "MIM", "url": "https://www.omim.org/entry/174700", "name": "Polydactyly, preaxial 4", "description": "Polydactyly, preaxial 4" }, { "id": "MIM:174200", "resource": "MIM", "url": "https://www.omim.org/entry/174200", "name": "Polydactyly, postaxial A1", "description": "Polydactyly, postaxial A1" }, { "id": "MIM:174500", "resource": "MIM", "url": "https://www.omim.org/entry/174500", "name": "Preaxial polydactyly 2", "description": "Preaxial polydactyly 2" } ], "evidence": [ { "id": "174200", "database": "MIM", "url": "https://www.omim.org/entry/174200" }, { "id": "174700", "database": "MIM", "url": "https://www.omim.org/entry/174700" } ] }, { "disease_id": "DOID:14761", "recommended_name": { "id": "DOID:14761", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14761", "name": "Greig cephalopolysyndactyly syndrome", "description": "An acrocephalosyndactylia that has_material_basis_in mutation in the GLI3 gene which results_in abnormal development located_in limb, located_in head, located_in face." }, "synonyms": [ { "id": "DOID:14761", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14761", "name": "polysyndactyly with peculiars skull shape", "description": "" }, { "id": "MONDO:0008287", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008287", "name": "Greig cephalopolysyndactyly syndrome", "description": "Greig cephalopolysyndactyly syndrome (GCPS) is a pleiotropic, multiple congenital anomaly syndrome." }, { "id": "MONDO:0008287", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008287", "name": "GCPS", "description": "" }, { "id": "MONDO:0008287", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008287", "name": "Greig cephalopolysyndactyly syndrome", "description": "" }, { "id": "MONDO:0008287", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008287", "name": "Greig cephalosyndactyly syndrome", "description": "" }, { "id": "MONDO:0008287", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008287", "name": "Greig's syndrome", "description": "" }, { "id": "MONDO:0008287", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008287", "name": "polysyndactyly with peculiars skull shape", "description": "" }, { "id": "MONDO:0008287", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008287", "name": "Greig syndrome", "description": "" }, { "id": "MONDO:0008287", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008287", "name": "polysyndactyly with peculiar skull Shape", "description": "" }, { "id": "MIM:175700", "resource": "MIM", "url": "https://www.omim.org/entry/175700", "name": "Greig cephalo-poly-syndactyly syndrome", "description": "Greig cephalo-poly-syndactyly syndrome" } ], "evidence": [ { "id": "175700", "database": "MIM", "url": "https://www.omim.org/entry/175700" } ] }, { "disease_id": "DOID:9248", "recommended_name": { "id": "DOID:9248", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9248", "name": "Pallister-Hall syndrome", "description": "A syndrome that is characterized by hypothalamic hamartoma, pituitary dysfunction, central polydactyly, and visceral malformations and has_material_basis_in autosomal dominant heterozygous mutation in the GLI3 gene on chromosome 7p14." }, "synonyms": [ { "id": "MONDO:0007804", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007804", "name": "Pallister-Hall syndrome", "description": "Pallister-Hall syndrome (PHS), a pleiotropic autosomal dominant malformative disorder, is characterized by hypothalamic hamartoma, pituitary dysfunction, bifid epiglottis, polydactyly, and, more rarely, renal abnormalities and genitourinary malformations." }, { "id": "MONDO:0007804", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007804", "name": "PHS", "description": "" }, { "id": "MONDO:0007804", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007804", "name": "Pallister Hall syndrome", "description": "" }, { "id": "MONDO:0007804", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007804", "name": "Pallister-Hall syndrome", "description": "" }, { "id": "MONDO:0007804", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007804", "name": "ano-cerebro-digital syndrome", "description": "" }, { "id": "MONDO:0007804", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007804", "name": "hypothalamic hamartoblastoma syndrome", "description": "" }, { "id": "MONDO:0007804", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007804", "name": "hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly", "description": "" }, { "id": "MIM:146510", "resource": "MIM", "url": "https://www.omim.org/entry/146510", "name": "Pallister-Hall syndrome", "description": "Pallister-Hall syndrome" } ], "evidence": [ { "id": "146510", "database": "MIM", "url": "https://www.omim.org/entry/146510" } ] } ], "snv": [ { "evidence": [ { "id": "P10071", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P10071" } ], "glycoeffect": [], "start_pos": 1164, "end_pos": 1164, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "7", "chr_pos": "41965583", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E1164", "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" } ] }, { "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:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P10071", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P10071" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1171, "end_pos": 1171, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (DLS->NLS).", "chr_id": "7", "chr_pos": "41965562", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D1171", "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": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P10071", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P10071" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1197, "end_pos": 1197, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "M", "sequence_mut": "T", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (NGM->NGT).", "chr_id": "7", "chr_pos": "41965483", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "M1197", "disease": [ { "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" ] }, { "evidence": [ { "id": "rs751296776", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751296776" }, { "id": "rs751296776", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751296776" }, { "id": "rs751296776", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs751296776#frequency_tab" }, { "id": "rs751296776", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs751296776" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1235, "end_pos": 1235, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NSP->NSS).", "chr_id": "7", "chr_pos": "41965370", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1235", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1222983446", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1222983446" }, { "id": "rs1222983446", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1222983446" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 1349, "end_pos": 1349, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SAT->NAT).", "chr_id": "7", "chr_pos": "41965027", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1349", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P10071", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P10071" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1411, "end_pos": 1411, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (DTS->NTS).", "chr_id": "7", "chr_pos": "41964842", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D1411", "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": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1378290549", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1378290549" }, { "id": "rs1378290549", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1378290549#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1445, "end_pos": 1445, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DQT->NQT).", "chr_id": "7", "chr_pos": "41964740", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D1445", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P10071", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P10071" } ], "glycoeffect": [], "start_pos": 1482, "end_pos": 1482, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "7", "chr_pos": "41964629", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P1482", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ] }, { "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: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" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1787103191", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1787103191" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1533, "end_pos": 1533, "sequence_org": "H", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (HSS->NSS).", "chr_id": "7", "chr_pos": "41964476", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H1533", "disease": [ { "disease_id": "DOID:14761", "recommended_name": { "id": "DOID:14761", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14761", "name": "Greig cephalopolysyndactyly syndrome", "description": "An acrocephalosyndactylia that has_material_basis_in mutation in the GLI3 gene which results_in abnormal development located_in limb, located_in head, located_in face." }, "synonyms": [ { "id": "DOID:14761", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14761", "name": "polysyndactyly with peculiars skull shape", "description": "" }, { "id": "MONDO:0008287", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008287", "name": "Greig cephalopolysyndactyly syndrome", "description": "Greig cephalopolysyndactyly syndrome (GCPS) is a pleiotropic, multiple congenital anomaly syndrome." }, { "id": "MONDO:0008287", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008287", "name": "GCPS", "description": "" }, { "id": "MONDO:0008287", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008287", "name": "Greig cephalopolysyndactyly syndrome", "description": "" }, { "id": "MONDO:0008287", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008287", "name": "Greig cephalosyndactyly syndrome", "description": "" }, { "id": "MONDO:0008287", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008287", "name": "Greig's syndrome", "description": "" }, { "id": "MONDO:0008287", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008287", "name": "polysyndactyly with peculiars skull shape", "description": "" }, { "id": "MONDO:0008287", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008287", "name": "Greig syndrome", "description": "" }, { "id": "MONDO:0008287", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008287", "name": "polysyndactyly with peculiar skull Shape", "description": "" }, { "id": "MIM:175700", "resource": "MIM", "url": "https://www.omim.org/entry/175700", "name": "Greig cephalo-poly-syndactyly syndrome", "description": "Greig cephalo-poly-syndactyly syndrome" } ] }, { "disease_id": "DOID:9248", "recommended_name": { "id": "DOID:9248", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9248", "name": "Pallister-Hall syndrome", "description": "A syndrome that is characterized by hypothalamic hamartoma, pituitary dysfunction, central polydactyly, and visceral malformations and has_material_basis_in autosomal dominant heterozygous mutation in the GLI3 gene on chromosome 7p14." }, "synonyms": [ { "id": "MONDO:0007804", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007804", "name": "Pallister-Hall syndrome", "description": "Pallister-Hall syndrome (PHS), a pleiotropic autosomal dominant malformative disorder, is characterized by hypothalamic hamartoma, pituitary dysfunction, bifid epiglottis, polydactyly, and, more rarely, renal abnormalities and genitourinary malformations." }, { "id": "MONDO:0007804", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007804", "name": "PHS", "description": "" }, { "id": "MONDO:0007804", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007804", "name": "Pallister Hall syndrome", "description": "" }, { "id": "MONDO:0007804", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007804", "name": "Pallister-Hall syndrome", "description": "" }, { "id": "MONDO:0007804", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007804", "name": "ano-cerebro-digital syndrome", "description": "" }, { "id": "MONDO:0007804", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007804", "name": "hypothalamic hamartoblastoma syndrome", "description": "" }, { "id": "MONDO:0007804", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007804", "name": "hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly", "description": "" }, { "id": "MIM:146510", "resource": "MIM", "url": "https://www.omim.org/entry/146510", "name": "Pallister-Hall syndrome", "description": "Pallister-Hall syndrome" } ] }, { "disease_id": "DOID:1148", "recommended_name": { "id": "DOID:1148", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1148", "name": "polydactyly", "description": "A physical disorder that is characterized by the presence of more than five fingers per hand or five toes per foot." }, "synonyms": [ { "id": "DOID:1148", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1148", "name": "postaxial polydactyly", "description": "" }, { "id": "MONDO:0008272", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008272", "name": "polysyndactyly 4", "description": "Polysyndactyly or PPD4 is a form of preaxial polydactyly of fingers, a limb malformation syndrome, characterized by the presence of a thumb showing the mildest degree of duplication, being broad, bifid or with radially deviated distal phalanx. Syndactyly of various degrees of third-and-fourth fingers is occasionally present." }, { "id": "MONDO:0008272", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008272", "name": "PPD4", "description": "" }, { "id": "MONDO:0008272", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008272", "name": "polydactyly, preaxial type 4", "description": "" }, { "id": "MONDO:0008272", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008272", "name": "polydactyly, preaxial, type IV", "description": "" }, { "id": "MONDO:0008272", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008272", "name": "preaxial polydactyly type 4", "description": "" }, { "id": "MONDO:0008272", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008272", "name": "crossed polydactyly type 1", "description": "" }, { "id": "MONDO:0008272", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008272", "name": "crossed polydactyly, type 1", "description": "" }, { "id": "MONDO:0008272", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008272", "name": "polydactyly preaxial 4", "description": "" }, { "id": "MONDO:0008272", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008272", "name": "polydactyly, preaxial 4", "description": "" }, { "id": "MONDO:0008272", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008272", "name": "polydactyly, preaxial IV", "description": "" }, { "id": "MONDO:0008272", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008272", "name": "polysyndactyly uncomplicated", "description": "" }, { "id": "MONDO:0008272", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008272", "name": "polysyndactyly, uncomplicated", "description": "" }, { "id": "MONDO:0008272", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008272", "name": "preaxial polydactyly 4", "description": "" }, { "id": "MONDO:0021003", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021003", "name": "polydactyly", "description": "A disease characterized by the presence of polydactyly, including syndromic and non-syndromic forms." }, { "id": "MONDO:0021003", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021003", "name": "hyperdactyly", "description": "" }, { "id": "MONDO:0021003", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021003", "name": "polydactylism", "description": "" }, { "id": "MONDO:0021003", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021003", "name": "polydactyly", "description": "" }, { "id": "MONDO:0021003", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021003", "name": "polydactyly (disease)", "description": "" }, { "id": "MONDO:0021003", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021003", "name": "postaxial polydactyly", "description": "" }, { "id": "MONDO:0021003", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021003", "name": "supernumerary digit", "description": "" }, { "id": "MONDO:0008266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008266", "name": "polydactyly, postaxial, type A1", "description": "" }, { "id": "MONDO:0008266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008266", "name": "polydactyly, postaxial, type A1", "description": "" }, { "id": "MONDO:0008266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008266", "name": "polydactyly, postaxial, types A1 and B", "description": "" }, { "id": "MONDO:0008266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008266", "name": "PAPA1", "description": "" }, { "id": "MONDO:0008266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008266", "name": "polydactyly, postaxial", "description": "" }, { "id": "MONDO:0008266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008266", "name": "postaxial polydactyly, type A", "description": "" }, { "id": "MONDO:0008266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008266", "name": "postaxial polydactyly, type B", "description": "" }, { "id": "MONDO:0008270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008270", "name": "polydactyly of a triphalangeal thumb", "description": "A form of preaxial polydactyly of fingers, a limb malformation syndrome, that is characterized by the presence of a usually opposable triphalangeal thumb with or without additional duplication of one or more skeletal components of the thumb. The thumb appearance can differ widely in shape (wedge to rectangular) or it can be deviated in the radio-ulnar plane (clinodactyly). PPD2 is also associated with systemic syndromes, including Holt-Oram syndrome and Fanconi anemia." }, { "id": "MONDO:0008270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008270", "name": "PPD2", "description": "" }, { "id": "MONDO:0008270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008270", "name": "polydactyly, preaxial type 2", "description": "" }, { "id": "MONDO:0008270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008270", "name": "polydactyly, preaxial type II", "description": "" }, { "id": "MONDO:0008270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008270", "name": "preaxial polydactyly type 2", "description": "" }, { "id": "MONDO:0008270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008270", "name": "triphalangeal thumb, type i", "description": "" }, { "id": "MONDO:0008270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008270", "name": "TPT-PS syndrome", "description": "" }, { "id": "MONDO:0008270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008270", "name": "polydactyly of triphalangeal thumb", "description": "" }, { "id": "MONDO:0008270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008270", "name": "polydactyly, preaxial 2", "description": "" }, { "id": "MONDO:0008270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008270", "name": "polydactyly, preaxial II", "description": "" }, { "id": "MONDO:0008270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008270", "name": "triphalangeal thumb", "description": "" }, { "id": "MONDO:0008270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008270", "name": "triphalangeal thumb with polysyndactyly", "description": "" }, { "id": "MONDO:0008270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008270", "name": "triphalangeal thumb-polydactyly syndrome", "description": "" }, { "id": "MONDO:0008270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008270", "name": "triphalangeal thumb-polysyndactyly syndrome", "description": "" }, { "id": "MIM:174700", "resource": "MIM", "url": "https://www.omim.org/entry/174700", "name": "Polydactyly, preaxial 4", "description": "Polydactyly, preaxial 4" }, { "id": "MIM:174200", "resource": "MIM", "url": "https://www.omim.org/entry/174200", "name": "Polydactyly, postaxial A1", "description": "Polydactyly, postaxial A1" }, { "id": "MIM:174500", "resource": "MIM", "url": "https://www.omim.org/entry/174500", "name": "Preaxial polydactyly 2", "description": "Preaxial polydactyly 2" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs995083372", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs995083372" }, { "id": "rs995083372", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs995083372#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 182, "end_pos": 182, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NPT->NST).", "chr_id": "7", "chr_pos": "42048626", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P182", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1262185592", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1262185592" }, { "id": "rs1262185592", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1262185592#frequency_tab" }, { "id": "18772890", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/18772890" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 217, "end_pos": 217, "sequence_org": "S", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SAT->NAT).", "chr_id": "7", "chr_pos": "42040239", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S217", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs1246757162", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1246757162" }, { "id": "rs1246757162", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1246757162" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 275, "end_pos": 275, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DST->NST).", "chr_id": "7", "chr_pos": "42045387", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D275", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P10071", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P10071" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 28, "end_pos": 28, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (DVS->NVS).", "chr_id": "7", "chr_pos": "42223172", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D28", "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": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P10071", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P10071" }, { "id": "rs752246768", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752246768" }, { "id": "rs752246768", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752246768" }, { "id": "rs752246768", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752246768" }, { "id": "rs752246768", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs752246768#frequency_tab" }, { "id": "rs752246768", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs752246768" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 301, "end_pos": 301, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (DHS->NHS).", "chr_id": "7", "chr_pos": "42040165", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D301", "disease": [ { "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": "" } ] }, { "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": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "P10071", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P10071" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 312, "end_pos": 312, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "M", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "7", "chr_pos": "42040131", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "T312", "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" } ] }, { "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: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" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P10071", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P10071" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 325, "end_pos": 325, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "S", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (NSR->NSS).", "chr_id": "7", "chr_pos": "42040093", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R325", "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" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs752125171", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752125171" }, { "id": "rs752125171", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752125171" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 326, "end_pos": 326, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SSS->NSS).", "chr_id": "7", "chr_pos": "42040089", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S326", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P10071", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P10071" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 327, "end_pos": 327, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (SSS->NSS).", "chr_id": "7", "chr_pos": "42040086", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S327", "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": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs754565420", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754565420" }, { "id": "rs754565420", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754565420" }, { "id": "rs754565420", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs754565420" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 331, "end_pos": 331, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SGS->NGS).", "chr_id": "7", "chr_pos": "42040074", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S331", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P10071", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P10071" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 336, "end_pos": 336, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "H", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (HLS->NLS).", "chr_id": "7", "chr_pos": "42040060", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "H336", "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": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs745496352", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs745496352" }, { "id": "rs745496352", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs745496352" }, { "id": "rs745496352", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs745496352" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 347, "end_pos": 347, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SFT->NFT).", "chr_id": "7", "chr_pos": "42026401", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S347", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P10071", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P10071" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 37, "end_pos": 37, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (STT->NTT).", "chr_id": "7", "chr_pos": "42223144", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S37", "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": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1415826109", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1415826109" }, { "id": "rs1415826109", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1415826109" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 419, "end_pos": 419, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SES->NES).", "chr_id": "7", "chr_pos": "42025364", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S419", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P10071", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P10071" }, { "id": "rs767324347", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767324347" }, { "id": "rs767324347", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767324347" }, { "id": "rs767324347", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs767324347" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 43, "end_pos": 43, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (DES->NES).", "chr_id": "7", "chr_pos": "42148466", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D43", "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" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "P10071", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P10071" } ], "glycoeffect": [], "start_pos": 653, "end_pos": 653, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "L", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "7", "chr_pos": "41972482", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P653", "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" } ] }, { "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" } ] }, { "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": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs748444497", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748444497" }, { "id": "rs748444497", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748444497" }, { "id": "rs748444497", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs748444497" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 656, "end_pos": 656, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SGS->NGS).", "chr_id": "7", "chr_pos": "41967883", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S656", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1339003460", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1339003460" }, { "id": "rs1339003460", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1339003460#frequency_tab" }, { "id": "rs1339003460", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1339003460" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 680, "end_pos": 680, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SNT->NNT).", "chr_id": "7", "chr_pos": "41972401", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S680", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P10071", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P10071" }, { "id": "rs142249104", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs142249104" }, { "id": "rs142249104", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs142249104" }, { "id": "rs142249104", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs142249104" }, { "id": "rs142249104", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs142249104" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 745, "end_pos": 745, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (DET->NET).", "chr_id": "7", "chr_pos": "41967794", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D745", "disease": [ { "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", "ebi", "germline" ] }, { "evidence": [ { "id": "rs1356902565", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1356902565" }, { "id": "rs1356902565", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1356902565#frequency_tab" }, { "id": "rs1356902565", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1356902565" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 78, "end_pos": 78, "sequence_org": "S", "sequence_mut": "A", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->A).", "chr_id": "7", "chr_pos": "42148361", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S78", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs777937822", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777937822" }, { "id": "rs777937822", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777937822" }, { "id": "rs777937822", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs777937822#frequency_tab" }, { "id": "rs777937822", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs777937822" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 78, "end_pos": 78, "sequence_org": "S", "sequence_mut": "L", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->L).", "chr_id": "7", "chr_pos": "42148360", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S78", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs77498774", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs77498774" }, { "id": "rs77498774", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs77498774" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 818, "end_pos": 818, "sequence_org": "C", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NTC->NTS).", "chr_id": "7", "chr_pos": "41966620", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C818", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1156987879", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1156987879" }, { "id": "rs1156987879", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1156987879" }, { "id": "rs1156987879", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1156987879#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 832, "end_pos": 832, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DLS->NLS).", "chr_id": "7", "chr_pos": "41966579", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D832", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P10071", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P10071" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 848, "end_pos": 848, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (DSS->NSS).", "chr_id": "7", "chr_pos": "41966531", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D848", "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" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs750790986", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750790986" }, { "id": "rs750790986", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750790986" }, { "id": "rs750790986", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs750790986#frequency_tab" }, { "id": "rs750790986", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs750790986" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 910, "end_pos": 910, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SQS->NQS).", "chr_id": "7", "chr_pos": "41966344", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S910", "disease": [ { "disease_id": "DOID:14761", "recommended_name": { "id": "DOID:14761", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14761", "name": "Greig cephalopolysyndactyly syndrome", "description": "An acrocephalosyndactylia that has_material_basis_in mutation in the GLI3 gene which results_in abnormal development located_in limb, located_in head, located_in face." }, "synonyms": [ { "id": "DOID:14761", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14761", "name": "polysyndactyly with peculiars skull shape", "description": "" }, { "id": "MONDO:0008287", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008287", "name": "Greig cephalopolysyndactyly syndrome", "description": "Greig cephalopolysyndactyly syndrome (GCPS) is a pleiotropic, multiple congenital anomaly syndrome." }, { "id": "MONDO:0008287", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008287", "name": "GCPS", "description": "" }, { "id": "MONDO:0008287", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008287", "name": "Greig cephalopolysyndactyly syndrome", "description": "" }, { "id": "MONDO:0008287", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008287", "name": "Greig cephalosyndactyly syndrome", "description": "" }, { "id": "MONDO:0008287", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008287", "name": "Greig's syndrome", "description": "" }, { "id": "MONDO:0008287", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008287", "name": "polysyndactyly with peculiars skull shape", "description": "" }, { "id": "MONDO:0008287", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008287", "name": "Greig syndrome", "description": "" }, { "id": "MONDO:0008287", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008287", "name": "polysyndactyly with peculiar skull Shape", "description": "" }, { "id": "MIM:175700", "resource": "MIM", "url": "https://www.omim.org/entry/175700", "name": "Greig cephalo-poly-syndactyly syndrome", "description": "Greig cephalo-poly-syndactyly syndrome" } ] }, { "disease_id": "DOID:9248", "recommended_name": { "id": "DOID:9248", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9248", "name": "Pallister-Hall syndrome", "description": "A syndrome that is characterized by hypothalamic hamartoma, pituitary dysfunction, central polydactyly, and visceral malformations and has_material_basis_in autosomal dominant heterozygous mutation in the GLI3 gene on chromosome 7p14." }, "synonyms": [ { "id": "MONDO:0007804", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007804", "name": "Pallister-Hall syndrome", "description": "Pallister-Hall syndrome (PHS), a pleiotropic autosomal dominant malformative disorder, is characterized by hypothalamic hamartoma, pituitary dysfunction, bifid epiglottis, polydactyly, and, more rarely, renal abnormalities and genitourinary malformations." }, { "id": "MONDO:0007804", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007804", "name": "PHS", "description": "" }, { "id": "MONDO:0007804", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007804", "name": "Pallister Hall syndrome", "description": "" }, { "id": "MONDO:0007804", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007804", "name": "Pallister-Hall syndrome", "description": "" }, { "id": "MONDO:0007804", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007804", "name": "ano-cerebro-digital syndrome", "description": "" }, { "id": "MONDO:0007804", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007804", "name": "hypothalamic hamartoblastoma syndrome", "description": "" }, { "id": "MONDO:0007804", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007804", "name": "hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly", "description": "" }, { "id": "MIM:146510", "resource": "MIM", "url": "https://www.omim.org/entry/146510", "name": "Pallister-Hall syndrome", "description": "Pallister-Hall syndrome" } ] }, { "disease_id": "DOID:1148", "recommended_name": { "id": "DOID:1148", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1148", "name": "polydactyly", "description": "A physical disorder that is characterized by the presence of more than five fingers per hand or five toes per foot." }, "synonyms": [ { "id": "DOID:1148", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1148", "name": "postaxial polydactyly", "description": "" }, { "id": "MONDO:0008272", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008272", "name": "polysyndactyly 4", "description": "Polysyndactyly or PPD4 is a form of preaxial polydactyly of fingers, a limb malformation syndrome, characterized by the presence of a thumb showing the mildest degree of duplication, being broad, bifid or with radially deviated distal phalanx. Syndactyly of various degrees of third-and-fourth fingers is occasionally present." }, { "id": "MONDO:0008272", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008272", "name": "PPD4", "description": "" }, { "id": "MONDO:0008272", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008272", "name": "polydactyly, preaxial type 4", "description": "" }, { "id": "MONDO:0008272", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008272", "name": "polydactyly, preaxial, type IV", "description": "" }, { "id": "MONDO:0008272", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008272", "name": "preaxial polydactyly type 4", "description": "" }, { "id": "MONDO:0008272", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008272", "name": "crossed polydactyly type 1", "description": "" }, { "id": "MONDO:0008272", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008272", "name": "crossed polydactyly, type 1", "description": "" }, { "id": "MONDO:0008272", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008272", "name": "polydactyly preaxial 4", "description": "" }, { "id": "MONDO:0008272", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008272", "name": "polydactyly, preaxial 4", "description": "" }, { "id": "MONDO:0008272", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008272", "name": "polydactyly, preaxial IV", "description": "" }, { "id": "MONDO:0008272", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008272", "name": "polysyndactyly uncomplicated", "description": "" }, { "id": "MONDO:0008272", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008272", "name": "polysyndactyly, uncomplicated", "description": "" }, { "id": "MONDO:0008272", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008272", "name": "preaxial polydactyly 4", "description": "" }, { "id": "MONDO:0021003", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021003", "name": "polydactyly", "description": "A disease characterized by the presence of polydactyly, including syndromic and non-syndromic forms." }, { "id": "MONDO:0021003", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021003", "name": "hyperdactyly", "description": "" }, { "id": "MONDO:0021003", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021003", "name": "polydactylism", "description": "" }, { "id": "MONDO:0021003", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021003", "name": "polydactyly", "description": "" }, { "id": "MONDO:0021003", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021003", "name": "polydactyly (disease)", "description": "" }, { "id": "MONDO:0021003", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021003", "name": "postaxial polydactyly", "description": "" }, { "id": "MONDO:0021003", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021003", "name": "supernumerary digit", "description": "" }, { "id": "MONDO:0008266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008266", "name": "polydactyly, postaxial, type A1", "description": "" }, { "id": "MONDO:0008266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008266", "name": "polydactyly, postaxial, type A1", "description": "" }, { "id": "MONDO:0008266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008266", "name": "polydactyly, postaxial, types A1 and B", "description": "" }, { "id": "MONDO:0008266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008266", "name": "PAPA1", "description": "" }, { "id": "MONDO:0008266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008266", "name": "polydactyly, postaxial", "description": "" }, { "id": "MONDO:0008266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008266", "name": "postaxial polydactyly, type A", "description": "" }, { "id": "MONDO:0008266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008266", "name": "postaxial polydactyly, type B", "description": "" }, { "id": "MONDO:0008270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008270", "name": "polydactyly of a triphalangeal thumb", "description": "A form of preaxial polydactyly of fingers, a limb malformation syndrome, that is characterized by the presence of a usually opposable triphalangeal thumb with or without additional duplication of one or more skeletal components of the thumb. The thumb appearance can differ widely in shape (wedge to rectangular) or it can be deviated in the radio-ulnar plane (clinodactyly). PPD2 is also associated with systemic syndromes, including Holt-Oram syndrome and Fanconi anemia." }, { "id": "MONDO:0008270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008270", "name": "PPD2", "description": "" }, { "id": "MONDO:0008270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008270", "name": "polydactyly, preaxial type 2", "description": "" }, { "id": "MONDO:0008270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008270", "name": "polydactyly, preaxial type II", "description": "" }, { "id": "MONDO:0008270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008270", "name": "preaxial polydactyly type 2", "description": "" }, { "id": "MONDO:0008270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008270", "name": "triphalangeal thumb, type i", "description": "" }, { "id": "MONDO:0008270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008270", "name": "TPT-PS syndrome", "description": "" }, { "id": "MONDO:0008270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008270", "name": "polydactyly of triphalangeal thumb", "description": "" }, { "id": "MONDO:0008270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008270", "name": "polydactyly, preaxial 2", "description": "" }, { "id": "MONDO:0008270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008270", "name": "polydactyly, preaxial II", "description": "" }, { "id": "MONDO:0008270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008270", "name": "triphalangeal thumb", "description": "" }, { "id": "MONDO:0008270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008270", "name": "triphalangeal thumb with polysyndactyly", "description": "" }, { "id": "MONDO:0008270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008270", "name": "triphalangeal thumb-polydactyly syndrome", "description": "" }, { "id": "MONDO:0008270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008270", "name": "triphalangeal thumb-polysyndactyly syndrome", "description": "" }, { "id": "MIM:174700", "resource": "MIM", "url": "https://www.omim.org/entry/174700", "name": "Polydactyly, preaxial 4", "description": "Polydactyly, preaxial 4" }, { "id": "MIM:174200", "resource": "MIM", "url": "https://www.omim.org/entry/174200", "name": "Polydactyly, postaxial A1", "description": "Polydactyly, postaxial A1" }, { "id": "MIM:174500", "resource": "MIM", "url": "https://www.omim.org/entry/174500", "name": "Preaxial polydactyly 2", "description": "Preaxial polydactyly 2" } ] } ], "keywords": [ "ebi", "germline", "disease" ] } ], "mutagenesis": [ { "start_pos": 1006, "end_pos": 1006, "sequence_org": "S", "sequence_mut": "A", "comment": "Loss of phosphorylation and proteolytic processing.", "evidence": [ { "database": "UniProtKB", "id": "P10071", "url": "https://www.uniprot.org/uniprot/P10071" }, { "database": "PubMed", "id": "10693759", "url": "https://glygen.org/publication/PubMed/10693759" } ] }, { "start_pos": 773, "end_pos": 773, "sequence_org": "K", "sequence_mut": "R", "comment": "Loss of proteolytic processing.", "evidence": [ { "database": "UniProtKB", "id": "P10071", "url": "https://www.uniprot.org/uniprot/P10071" }, { "database": "PubMed", "id": "16705181", "url": "https://glygen.org/publication/PubMed/16705181" } ] }, { "start_pos": 779, "end_pos": 779, "sequence_org": "K", "sequence_mut": "R", "comment": "Loss of proteolytic processing.", "evidence": [ { "database": "UniProtKB", "id": "P10071", "url": "https://www.uniprot.org/uniprot/P10071" }, { "database": "PubMed", "id": "16705181", "url": "https://glygen.org/publication/PubMed/16705181" } ] }, { "start_pos": 784, "end_pos": 784, "sequence_org": "K", "sequence_mut": "R", "comment": "Loss of proteolytic processing.", "evidence": [ { "database": "UniProtKB", "id": "P10071", "url": "https://www.uniprot.org/uniprot/P10071" }, { "database": "PubMed", "id": "16705181", "url": "https://glygen.org/publication/PubMed/16705181" } ] }, { "start_pos": 800, "end_pos": 800, "sequence_org": "K", "sequence_mut": "R", "comment": "Loss of proteolytic processing.", "evidence": [ { "database": "UniProtKB", "id": "P10071", "url": "https://www.uniprot.org/uniprot/P10071" }, { "database": "PubMed", "id": "16705181", "url": "https://glygen.org/publication/PubMed/16705181" } ] }, { "start_pos": 849, "end_pos": 849, "sequence_org": "S", "sequence_mut": "A", "comment": "Loss of phosphorylation and proteolytic processing.", "evidence": [ { "database": "UniProtKB", "id": "P10071", "url": "https://www.uniprot.org/uniprot/P10071" }, { "database": "PubMed", "id": "16705181", "url": "https://glygen.org/publication/PubMed/16705181" }, { "database": "PubMed", "id": "10693759", "url": "https://glygen.org/publication/PubMed/10693759" } ] }, { "start_pos": 855, "end_pos": 855, "sequence_org": "S", "sequence_mut": "A", "comment": "Loss of proteolytic processing.", "evidence": [ { "database": "UniProtKB", "id": "P10071", "url": "https://www.uniprot.org/uniprot/P10071" }, { "database": "PubMed", "id": "16705181", "url": "https://glygen.org/publication/PubMed/16705181" } ] }, { "start_pos": 856, "end_pos": 856, "sequence_org": "S", "sequence_mut": "A", "comment": "Loss of proteolytic processing.", "evidence": [ { "database": "UniProtKB", "id": "P10071", "url": "https://www.uniprot.org/uniprot/P10071" }, { "database": "PubMed", "id": "16705181", "url": "https://glygen.org/publication/PubMed/16705181" } ] }, { "start_pos": 861, "end_pos": 861, "sequence_org": "S", "sequence_mut": "A", "comment": "Loss of proteolytic processing.", "evidence": [ { "database": "UniProtKB", "id": "P10071", "url": "https://www.uniprot.org/uniprot/P10071" }, { "database": "PubMed", "id": "16705181", "url": "https://glygen.org/publication/PubMed/16705181" } ] }, { "start_pos": 864, "end_pos": 864, "sequence_org": "S", "sequence_mut": "A", "comment": "Loss of proteolytic processing.", "evidence": [ { "database": "UniProtKB", "id": "P10071", "url": "https://www.uniprot.org/uniprot/P10071" }, { "database": "PubMed", "id": "16705181", "url": "https://glygen.org/publication/PubMed/16705181" } ] }, { "start_pos": 865, "end_pos": 865, "sequence_org": "S", "sequence_mut": "A", "comment": "Loss of phosphorylation and proteolytic processing.", "evidence": [ { "database": "UniProtKB", "id": "P10071", "url": "https://www.uniprot.org/uniprot/P10071" }, { "database": "PubMed", "id": "10693759", "url": "https://glygen.org/publication/PubMed/10693759" } ] }, { "start_pos": 873, "end_pos": 873, "sequence_org": "S", "sequence_mut": "A", "comment": "Loss of proteolytic processing.", "evidence": [ { "database": "UniProtKB", "id": "P10071", "url": "https://www.uniprot.org/uniprot/P10071" }, { "database": "PubMed", "id": "16705181", "url": "https://glygen.org/publication/PubMed/16705181" } ] }, { "start_pos": 877, "end_pos": 877, "sequence_org": "S", "sequence_mut": "A", "comment": "Loss of phosphorylation and proteolytic processing.", "evidence": [ { "database": "UniProtKB", "id": "P10071", "url": "https://www.uniprot.org/uniprot/P10071" }, { "database": "PubMed", "id": "16705181", "url": "https://glygen.org/publication/PubMed/16705181" }, { "database": "PubMed", "id": "10693759", "url": "https://glygen.org/publication/PubMed/10693759" } ] }, { "start_pos": 903, "end_pos": 903, "sequence_org": "S", "sequence_mut": "A", "comment": "Loss of proteolytic processing.", "evidence": [ { "database": "UniProtKB", "id": "P10071", "url": "https://www.uniprot.org/uniprot/P10071" }, { "database": "PubMed", "id": "16705181", "url": "https://glygen.org/publication/PubMed/16705181" } ] }, { "start_pos": 907, "end_pos": 907, "sequence_org": "S", "sequence_mut": "A", "comment": "Loss of phosphorylation and proteolytic processing.", "evidence": [ { "database": "UniProtKB", "id": "P10071", "url": "https://www.uniprot.org/uniprot/P10071" }, { "database": "PubMed", "id": "16705181", "url": "https://glygen.org/publication/PubMed/16705181" }, { "database": "PubMed", "id": "10693759", "url": "https://glygen.org/publication/PubMed/10693759" } ] }, { "start_pos": 980, "end_pos": 980, "sequence_org": "S", "sequence_mut": "A", "comment": "Loss of phosphorylation and proteolytic processing.", "evidence": [ { "database": "UniProtKB", "id": "P10071", "url": "https://www.uniprot.org/uniprot/P10071" }, { "database": "PubMed", "id": "10693759", "url": "https://glygen.org/publication/PubMed/10693759" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "73.42", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000106571", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000106571" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "78.3", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000106571", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000106571" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "77", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000106571", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000106571" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "91.54", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000106571", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000106571" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "81.68", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000106571", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000106571" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "73.95", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000106571", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000106571" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "80.62", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000106571", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000106571" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "79.32", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000106571", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000106571" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "80.44", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000106571", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000106571" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "75.28", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000106571", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000106571" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "63.89", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000106571", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000106571" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "77.1", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000106571", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000106571" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "83.29", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000106571", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000106571" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P10071", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P10071" } ], "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": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P10071", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P10071" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "No", "trend": "down", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "P10071", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P10071" } ], "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": "P10071", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P10071" } ], "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": "No", "trend": "up", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "P10071", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P10071" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "P10071", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P10071" } ], "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": "P10071", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P10071" } ], "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": "No", "trend": "up", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "P10071", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P10071" } ], "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": "No", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "P10071", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P10071" } ], "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": "P10071", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P10071" } ], "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": "P10071", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P10071" } ], "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Aerodigestive tract cancer, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Escc, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "gastric cardia adenocarcinoma, susceptibility to", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Colorectal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:9256", "evidence": [ { "database": "BioXpress", "id": "P10071", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P10071" } ], "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": "P10071", "url": "https://www.uniprot.org/uniprot/P10071" } ], "common_name": "Human" } ], "gene": [ { "name": "GLI3", "url": "https://www.uniprot.org/uniprot/P10071", "locus": { "chromosome": "7", "start_pos": 41960949, "end_pos": 42264100, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000106571", "url": "https://www.ensembl.org/id/ENSG00000106571" } ] } } ], "crossref": [ { "id": "ENSG00000106571", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000106571", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "P10071", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P10071", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "GLI3", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=GLI3", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "2737", "url": "https://www.ncbi.nlm.nih.gov/gene/2737", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "4319", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=4319", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "P10071", "url": "https://www.ebi.ac.uk/intact/interactors/id:P10071*", "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:2737", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:2737", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "146510", "url": "http://www.omim.org/entry/146510", "database": "MIM", "categories": [ "Other" ] }, { "id": "165240", "url": "http://www.omim.org/entry/165240", "database": "MIM", "categories": [ "Other" ] }, { "id": "174200", "url": "http://www.omim.org/entry/174200", "database": "MIM", "categories": [ "Other" ] }, { "id": "174700", "url": "http://www.omim.org/entry/174700", "database": "MIM", "categories": [ "Other" ] }, { "id": "175700", "url": "http://www.omim.org/entry/175700", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_P10071", "url": "https://www.nextprot.org/entry/NX_P10071", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "P10071", "url": "https://oglcnac.org/atlas/detail/P10071", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "P10071", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P10071", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "NMMEQEY", "url": "https://omabrowser.org/oma/group/NMMEQEY/", "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:SF5", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR45718:SF5", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "4BLD", "url": "https://www.rcsb.org/structure/4BLD", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF00096", "url": "http://pfam.xfam.org/family/PF00096", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "P10071", "url": "https://pharos.nih.gov/targets/P10071", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_P10071", "url": "http://purl.obolibrary.org/obo/PR_P10071", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-5610785", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610785", "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": "R-HSA-8940973", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8940973", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_000159", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000159", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "A0A2R8Y6R3", "url": "https://www.uniprot.org/uniprot/A0A2R8Y6R3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A2R8Y6R3-1", "url": "https://www.uniprot.org/uniprot/A0A2R8Y6R3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A2R8Y723", "url": "https://www.uniprot.org/uniprot/A0A2R8Y723", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A2R8Y723-1", "url": "https://www.uniprot.org/uniprot/A0A2R8Y723-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A2R8YGX0", "url": "https://www.uniprot.org/uniprot/A0A2R8YGX0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A2R8YGX0-1", "url": "https://www.uniprot.org/uniprot/A0A2R8YGX0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7I2V3B8", "url": "https://www.uniprot.org/uniprot/A0A7I2V3B8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7I2V3B8-1", "url": "https://www.uniprot.org/uniprot/A0A7I2V3B8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7I2V4V2", "url": "https://www.uniprot.org/uniprot/A0A7I2V4V2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7I2V4V2-1", "url": "https://www.uniprot.org/uniprot/A0A7I2V4V2-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7I2V4X9", "url": "https://www.uniprot.org/uniprot/A0A7I2V4X9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7I2V4X9-1", "url": "https://www.uniprot.org/uniprot/A0A7I2V4X9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8WEV4", "url": "https://www.uniprot.org/uniprot/F8WEV4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8WEV4-1", "url": "https://www.uniprot.org/uniprot/F8WEV4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P10071", "url": "https://www.uniprot.org/uniprot/P10071", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P10071-1", "url": "https://www.uniprot.org/uniprot/P10071-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MEAQSHSSTTTEKKKVENSIVKCSTRTDVSEKAVASSTTSNEDESPGQTYHRERRNAITMQPQNVQGLSKVSEEPSTSSDERASLIKKEIHGSLPHVAEPSVPYRGTVFAMDPRNGYMEPHYHPPHLFPAFHPPVPIDARHHEGRYHYDPSPIPPLHMTSALSSSPTYPDLPFIRISPHRNPTAASESPFSPPHPYINPYMDYIRSLHSSPSLSMISATRGLSPTDAPHAGVSPAEYYHQMALLTGQRSPYADIIPSAATAGTGAIHMEYLHAMDSTRFSSPRLSARPSRKRTLSISPLSDHSFDLQTMIRTSPNSLVTILNNSRSSSSASGSYGHLSASAISPALSFTYSSAPVSLHMHQQILSRQQSLGSAFGHSPPLIHPAPTFPTQRPIPGIPTVLNPVQVSSGPSESSQNKPTSESAVSSTGDPMHNKRSKIKPDEDLPSPGARGQQEQPEGTTLVKEEGDKDESKQEPEVIYETNCHWEGCAREFDTQEQLVHHINNDHIHGEKKEFVCRWLDCSREQKPFKAQYMLVVHMRRHTGEKPHKCTFEGCTKAYSRLENLKTHLRSHTGEKPYVCEHEGCNKAFSNASDRAKHQNRTHSNEKPYVCKIPGCTKRYTDPSSLRKHVKTVHGPEAHVTKKQRGDIHPRPPPPRDSGSHSQSRSPGRPTQGALGEQQDLSNTTSKREECLQVKTVKAEKPMTSQPSPGGQSSCSSQQSPISNYSNSGLELPLTDGGSIGDLSAIDETPIMDSTISTATTALALQARRNPAGTKWMEHVKLERLKQVNGMFPRLNPILPPKAPAVSPLIGNGTQSNNTCSLGGPMTLLPGRSDLSGVDVTMLNMLNRRDSSASTISSAYLSSRRSSGISPCFSSRRSSEASQAEGRPQNVSVADSYDPISTDASRRSSEASQSDGLPSLLSLTPAQQYRLKAKYAAATGGPPPTPLPNMERMSLKTRLALLGDALEPGVALPPVHAPRRCSDGGAHGYGRRHLQPHDAPGHGVRRASDPVRTGSEGLALPRVPRFSSLSSCNPPAMATSAEKRSLVLQNYTRPEGGQSRNFHSSPCPPSITENVTLESLTMDADANLNDEDFLPDDVVQYLNSQNQAGYEQHFPSALPDDSKVPHGPGDFDAPGLPDSHAGQQFHALEQPCPEGSKTDLPIQWNEVSSGSADLSSSKLKCGPRPAVPQTRAFGFCNGMVVHPQNPLRSGPAGGYQTLGENSNPYGGPEHLMLHNSPGSGTSGNAFHEQPCKAPQYGNCLNRQPVAPGALDGACGAGIQASKLKSTPMQGSGGQLNFGLPVAPNESAGSMVNGMQNQDPVGQGYLAHQLLGDSMQHPGAGRPGQQMLGQISATSHINIYQGPESCLPGAHGMGSQPSSLAVVRGYQPCASFGGSRRQAMPRDSLALQSGQLSDTSQTCRVNGIKMEMKGQPHPLCSNLQNYSGQFYDQTVGFSQQDTKAGSFSISDASCLLQGTSAKNSELLSPGANQVTSTVDSLDSHDLEGVQIDFDAIIDDGDHSSLMSGALSPSIIQNLSHSSSRLTTPRASLPFPALSMSTTNMAIGDMSSLLTSLAEESKFLAVMQ", "length": 1580, "header": "sp|P10071-1|GLI3_HUMAN Isoform 1 of Transcriptional activator GLI3 OS=Homo sapiens OX=9606 GN=GLI3 PE=1 SV=6 CANONICAL=P10071-1" }, "isoforms": [ { "isoform_ac": "A0A2R8Y6R3-1", "url": "", "sequence": { "sequence": "MQPQNVQGLSKVSEEPSTSSDERASLIKKEIHGSLPHVAEPSVPYRGTVFAMDPRNGYMEPHYHLLWRIQ", "length": 70, "header": "tr|A0A2R8Y6R3-1|GLI3_HUMAN Computationally mapped isoform of Transcriptional activator GLI3 OS=Homo sapiens OX=9606 GN=GLI3 PE=1 SV=1 CANONICAL=P10071-1" }, "locus": { "chromosome": "7", "start_pos": 42148415, "end_pos": 42118313, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000642432.1", "url": "https://www.ensembl.org/id/ENST00000642432.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000495498.1", "url": "https://www.ensembl.org/id/ENSP00000495498.1" } ] } }, { "isoform_ac": "A0A2R8Y723-1", "url": "", "sequence": { "sequence": "MQPQNVQGLSKVSEEPSTSSDERASLIKKEIHGSLPHVAEPSVPYRGTVFAMDPRNGYMEPHYHLVTCLPETSFFYNTD", "length": 79, "header": "tr|A0A2R8Y723-1|A0A2R8Y723_HUMAN Computationally mapped isoform of GLI family zinc finger 3 OS=Homo sapiens OX=9606 GN=GLI3 PE=1 SV=1 CANONICAL=P10071-1" }, "locus": { "chromosome": "7", "start_pos": 42148415, "end_pos": 42145560, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000643264.1", "url": "https://www.ensembl.org/id/ENST00000643264.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000495207.1", "url": "https://www.ensembl.org/id/ENSP00000495207.1" } ] } }, { "isoform_ac": "A0A2R8YGX0-1", "url": "", "sequence": { "sequence": "MQPQNVQGLSKVSEEPSTSSDERASLIKKEIHGSLPHVAEPSVPYRGTVFAMDPRNGYMEPHYHPPHLFPAFHPPVPIDARHHEGRYHYDPSPIPPLHMTSALSSSPTYPDLPFIRISPHRNPTAASESPFSPPHPYINPYMDYIRSLHSSPSLSMISATRGLSPTDAPHAGVSPAEYYHQMALLTGQRSPYADIIPSAATAGTGAIHMEYLHAMDSTRFSSPRLSARPSRKRTLSISPLSDHSFDLQTMIRTSPNSLVTILNNSRSSSSASGSYGHLSASAISPALSFTYSSAPVSLHMHQQILSRQQSLGSAFGHSPPLIHPAPTFPTQRPIPGIPTVLNPVQVSSGPSESSQNKPTSESAVSSTGDPMHNKRSKIKPDEDLPSPGARGQQEQPEGTTLVKEEGDKDESKQEPEVIYETNCHWEGCAREFDTQEQLVHHINNDHIHGEKKEFVCRWLDCSREQKPFKAQYMLVVHMRRHTGEKPHKCTFEGCTKAYSRLENLKTHLRSHTGEKPYVCEHEGCNKAFSNASDRAKHQNRTHSNEKPYVCKIPGCTKRYTDPSSLRKHVKTVHGPEAHVTKKQRGDIHPRPPPPRDSGSHSQSRSPGRPTQGALGEQQDLSNTTSKREECLQVKTVKAEKPMTSQPSPGGQSSCSSQQSPISNYSNSGLELPLTDGGSIGDLSAIDETPIMDSTISTATTALALQARRNPAGTKWMEHVKLERLKQVNGMFPRLNPILPPKAPAVSPLIGNGTQSNNTCSLGGPMTLLPGRSDLSGVDVTMLNMLNRRDSSASTISSAYLSSRRSSGISPCFSSRRSSEASQAEGRPQNVSVADSYDPISTDASRRSSEASQSDGLPSLLSLTPAQQYRLKAKYAAATGGPPPTPLPNMERMSLKTRLALLGDALEPGVALPPVHAPRRCSDGGAHGYGRRHLQPHDAPGHGVRRASDPVRTGSEGLALPRVPRFSSLSSCNPPAMATSAEKRSLVLQNYTRPEGGQSRNFHSSPCPPSITENVTLESLTMDADANLNDEDFLPDDVVQYLNSQNQAGYEQHFPSALPDDSKVPHGPGDFDAPGLPDSHAGQQFHALEQPCPEGSKTDLPIQWNEVSSGSADLSSSKLKCGPRPAVPQTRAFGFCNGMVVHPQNPLRSGPAGGYQTLGENSNPYGGPEHLMLHNSPGSGTSGNAFHEQPCKAPQYGNCLNRQPVAPGALDGACGAGIQASKLKSTPMQGSGGQLNFGLPVAPNESAGSMVNGMQNQDPVGQGYLAHQLLGDSMQHPGAGRPGQQMLGQISATSHINIYQGPESCLPGAHGMGSQPSSLAVVRGYQPCASFGGSRRQAMPRDSLALQSGQLSDTSQTCRVNGIKMEMKGQPHPLCSNLQNYSGQFYDQTVGFSQQDTKAGSFSISDASCLLQGTSAKNSELLSPGANQVTSTVDSLDSHDLEGVQIDFDAIIDDGDHSSLMSGALSPSIIQNLSHSSSRLTTPRASLPFPALSMSTTNMAIGDMSSLLTSLAEESKFLAVMQ", "length": 1521, "header": "tr|A0A2R8YGX0-1|GLI3_HUMAN Computationally mapped isoform of Transcriptional activator GLI3 OS=Homo sapiens OX=9606 GN=GLI3 PE=1 SV=1 CANONICAL=P10071-1" }, "locus": { "chromosome": "7", "start_pos": 42148415, "end_pos": 41964333, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000479210.1", "url": "https://www.ensembl.org/id/ENST00000479210.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000496377.1", "url": "https://www.ensembl.org/id/ENSP00000496377.1" } ] } }, { "isoform_ac": "A0A7I2V3B8-1", "url": "", "sequence": { "sequence": "MEAQSHSSTTTEKKKVENSIVKCSTRTDVSEKAVASSTTSNESSTVFI", "length": 48, "header": "tr|A0A7I2V3B8-1|GLI3_HUMAN Computationally mapped isoform of Transcriptional activator GLI3 OS=Homo sapiens OX=9606 GN=GLI3 PE=1 SV=1 CANONICAL=P10071-1" }, "locus": { "chromosome": "7", "start_pos": 42223253, "end_pos": 42220642, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000678978.1", "url": "https://www.ensembl.org/id/ENST00000678978.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000503352.1", "url": "https://www.ensembl.org/id/ENSP00000503352.1" } ] } }, { "isoform_ac": "A0A7I2V4V2-1", "url": "", "sequence": { "sequence": "MEAQSHSSTTTEKKKVENSIVKCSTRTDVSEKAVASSTTSNGEQHRDYQQPSLESFLCSLHSL", "length": 63, "header": "tr|A0A7I2V4V2-1|GLI3_HUMAN Computationally mapped isoform of Transcriptional activator GLI3 OS=Homo sapiens OX=9606 GN=GLI3 PE=1 SV=1 CANONICAL=P10071-1" }, "locus": { "chromosome": "7", "start_pos": 42223253, "end_pos": 42223065, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000428534.2", "url": "https://www.ensembl.org/id/ENST00000428534.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000503957.1", "url": "https://www.ensembl.org/id/ENSP00000503957.1" } ] } }, { "isoform_ac": "A0A7I2V4X9-1", "url": "", "sequence": { "sequence": "MQPQNVQGLSKVSEEPSTSSDERASLIKKEIHGSLPHVAEPSVPYRGTVFAMDPRNGYMEPHYHPPHLFPAFHPPVPIDARHHEGRYHYDPSPIPPLHMTSALSSSPTYPDLPFIRISPHRNPTAASESPFSPPHPYINPYMDYIRSLHSSPSLSMISATRGLSPTDAPHAGVSPAEYYHQMALLTGQRSPYADIIPSAATAGTGAIHMEYLHAMDSTRFSSPRLSARPSRKRTLSISPLSDHSFDLQTMIRTSPNSLVTILNNSRSSSSASGSYGHLSASAISPALSFTYSSAPVSLHMHQQILSRQQSLGSAFGHSPPLIHPAPTFPTQRPIPGIPTVLNPVQVSSGPSESSQQNKPTSESAVSSTGDPMHNKRSKIKPDEDLPSPGARGQQEQPEGTTLVKEEGDKDESKQEPEVIYETNCHWEGCAREFDTQEQLVHHINNDHIHGEKKEFVCRWLDCSREQKPFKAQYMLVVHMRRHTGEKPHKCTFEGCTKAYSRLENLKTHLRSHTGEKPYVCEHEGCNKAFSNASDRAKHQNRTHSNEKPYVCKIPGCTKRYTDPSSLRKHVKTVHGPEAHVTKKQRGDIHPRPPPPRDSGSHSQSRSPGRPTQGALGEQQDLSNTTSKREECLQVKTVKAEKPMTSQPSPGGQSSCSSQQSPISNYSNSGLELPLTDGGSIGDLSAIDETPIMDSTISTATTALALQARRNPAGTKWMEHVKLERLKQVNGMFPRLNPILPPKAPAVSPLIGNGTQSNNTCSLGGPMTLLPGRSDLSGVDVTMLNMLNRRDSSASTISSAYLSSRRSSGISPCFSSRRSSEASQAEGRPQNVSVADSYDPISTDASRRSSEASQSDGLPSLLSLTPAQQYRLKAKYAAATGGPPPTPLPNMERMSLKTRLALLGDALEPGVALPPVHAPRRCSDGGAHGYGRRHLQPHDAPGHGVRRASDPVRTGSEGLALPRVPRFSSLSSCNPPAMATSAEKRSLVLQNYTRPEGGQSRNFHSSPCPPSITENVTLESLTMDADANLNDEDFLPDDVVQYLNSQNQAGYEQHFPSALPDDSKVPHGPGDFDAPGLPDSHAGQQFHALEQPCPEGSKTDLPIQWNEVSSGSADLSSSKLKCGPRPAVPQTRAFGFCNGMVVHPQNPLRSGPAGGYQTLGENSNPYGGPEHLMLHNSPGSGTSGNAFHEQPCKAPQYGNCLNRQPVAPGALDGACGAGIQASKLKSTPMQGSGGQLNFGLPVAPNESAGSMVNGMQNQDPVGQGYLAHQLLGDSMQHPGAGRPGQQMLGQISATSHINIYQGPESCLPGAHGMGSQPSSLAVVRGYQPCASFGGSRRQAMPRDSLALQSGQLSDTSQTCRVNGIKMEMKGQPHPLCSNLQNYSGQFYDQTVGFSQQDTKAGSFSISDASCLLQGTSAKNSELLSPGANQVTSTVDSLDSHDLEGVQIDFDAIIDDGDHSSLMSGALSPSIIQNLSHSSSRLTTPRASLPFPALSMSTTNMAIGDMSSLLTSLAEESKFLAVMQ", "length": 1522, "header": "tr|A0A7I2V4X9-1|GLI3_HUMAN Computationally mapped isoform of Transcriptional activator GLI3 OS=Homo sapiens OX=9606 GN=GLI3 PE=1 SV=1 CANONICAL=P10071-1" }, "locus": { "chromosome": "7", "start_pos": 42148415, "end_pos": 41964333, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000677288.1", "url": "https://www.ensembl.org/id/ENST00000677288.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000503986.1", "url": "https://www.ensembl.org/id/ENSP00000503986.1" } ] } }, { "isoform_ac": "F8WEV4-1", "url": "", "sequence": { "sequence": "MEAQSHSSTTTEKKKVENSIVKCSTRTDVSEKAVASSTTSNGNHLEAQARGWTRRIGCIRAVHPCCCTNDSATDPLGWATLKGGSSKECVQTHTFT", "length": 96, "header": "tr|F8WEV4-1|GLI3_HUMAN Computationally mapped isoform of Transcriptional activator GLI3 OS=Homo sapiens OX=9606 GN=GLI3 PE=1 SV=1 CANONICAL=P10071-1" }, "locus": { "chromosome": "7", "start_pos": 42223253, "end_pos": 42172523, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000437480.1", "url": "https://www.ensembl.org/id/ENST00000437480.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000407963.1", "url": "https://www.ensembl.org/id/ENSP00000407963.1" } ] } }, { "isoform_ac": "P10071-1", "url": "", "sequence": { "sequence": "MEAQSHSSTTTEKKKVENSIVKCSTRTDVSEKAVASSTTSNEDESPGQTYHRERRNAITMQPQNVQGLSKVSEEPSTSSDERASLIKKEIHGSLPHVAEPSVPYRGTVFAMDPRNGYMEPHYHPPHLFPAFHPPVPIDARHHEGRYHYDPSPIPPLHMTSALSSSPTYPDLPFIRISPHRNPTAASESPFSPPHPYINPYMDYIRSLHSSPSLSMISATRGLSPTDAPHAGVSPAEYYHQMALLTGQRSPYADIIPSAATAGTGAIHMEYLHAMDSTRFSSPRLSARPSRKRTLSISPLSDHSFDLQTMIRTSPNSLVTILNNSRSSSSASGSYGHLSASAISPALSFTYSSAPVSLHMHQQILSRQQSLGSAFGHSPPLIHPAPTFPTQRPIPGIPTVLNPVQVSSGPSESSQNKPTSESAVSSTGDPMHNKRSKIKPDEDLPSPGARGQQEQPEGTTLVKEEGDKDESKQEPEVIYETNCHWEGCAREFDTQEQLVHHINNDHIHGEKKEFVCRWLDCSREQKPFKAQYMLVVHMRRHTGEKPHKCTFEGCTKAYSRLENLKTHLRSHTGEKPYVCEHEGCNKAFSNASDRAKHQNRTHSNEKPYVCKIPGCTKRYTDPSSLRKHVKTVHGPEAHVTKKQRGDIHPRPPPPRDSGSHSQSRSPGRPTQGALGEQQDLSNTTSKREECLQVKTVKAEKPMTSQPSPGGQSSCSSQQSPISNYSNSGLELPLTDGGSIGDLSAIDETPIMDSTISTATTALALQARRNPAGTKWMEHVKLERLKQVNGMFPRLNPILPPKAPAVSPLIGNGTQSNNTCSLGGPMTLLPGRSDLSGVDVTMLNMLNRRDSSASTISSAYLSSRRSSGISPCFSSRRSSEASQAEGRPQNVSVADSYDPISTDASRRSSEASQSDGLPSLLSLTPAQQYRLKAKYAAATGGPPPTPLPNMERMSLKTRLALLGDALEPGVALPPVHAPRRCSDGGAHGYGRRHLQPHDAPGHGVRRASDPVRTGSEGLALPRVPRFSSLSSCNPPAMATSAEKRSLVLQNYTRPEGGQSRNFHSSPCPPSITENVTLESLTMDADANLNDEDFLPDDVVQYLNSQNQAGYEQHFPSALPDDSKVPHGPGDFDAPGLPDSHAGQQFHALEQPCPEGSKTDLPIQWNEVSSGSADLSSSKLKCGPRPAVPQTRAFGFCNGMVVHPQNPLRSGPAGGYQTLGENSNPYGGPEHLMLHNSPGSGTSGNAFHEQPCKAPQYGNCLNRQPVAPGALDGACGAGIQASKLKSTPMQGSGGQLNFGLPVAPNESAGSMVNGMQNQDPVGQGYLAHQLLGDSMQHPGAGRPGQQMLGQISATSHINIYQGPESCLPGAHGMGSQPSSLAVVRGYQPCASFGGSRRQAMPRDSLALQSGQLSDTSQTCRVNGIKMEMKGQPHPLCSNLQNYSGQFYDQTVGFSQQDTKAGSFSISDASCLLQGTSAKNSELLSPGANQVTSTVDSLDSHDLEGVQIDFDAIIDDGDHSSLMSGALSPSIIQNLSHSSSRLTTPRASLPFPALSMSTTNMAIGDMSSLLTSLAEESKFLAVMQ", "length": 1580, "header": "sp|P10071-1|GLI3_HUMAN Isoform 1 of Transcriptional activator GLI3 OS=Homo sapiens OX=9606 GN=GLI3 PE=1 SV=6 CANONICAL=P10071-1" }, "locus": { "chromosome": "7", "start_pos": 42223253, "end_pos": 41964333, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000678429.1", "url": "https://www.ensembl.org/id/ENST00000678429.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000502957.1", "url": "https://www.ensembl.org/id/ENSP00000502957.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 78, "start_aa": "Ser", "end_pos": 78, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser78", "evidence": [ { "id": "P10071", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P10071" }, { "id": "28411811", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28411811" }, { "id": "30620550", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30620550" }, { "id": "P10071", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P10071" } ] } ], "phosphorylation": [ { "start_pos": 1006, "end_pos": 1006, "kinase_uniprot_canonical_ac": "P17612-1", "kinase_gene_name": "PRKACA", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P10071", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P10071" }, { "database": "PubMed", "id": "10693759", "url": "https://glygen.org/publication/PubMed/10693759" } ], "site_lbl": "Ser1006" }, { "start_pos": 1006, "end_pos": 1006, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine; by PKA", "evidence": [ { "database": "UniProtKB", "id": "P10071", "url": "https://www.uniprot.org/uniprot/P10071" }, { "database": "PRO", "id": "P10071", "url": "http://purl.obolibrary.org/obo/P10071" }, { "database": "iPTMnet", "id": "P10071", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P10071" }, { "database": "PubMed", "id": "10693759", "url": "https://glygen.org/publication/PubMed/10693759" } ], "site_lbl": "Ser1006" }, { "start_pos": 19, "end_pos": 19, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P10071", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P10071" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" }, { "database": "phospho.ELM", "id": "P10071", "url": "http://phospho.elm.eu.org/byAccession/P10071.html" } ], "site_lbl": "Ser19" }, { "start_pos": 343, "end_pos": 343, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P10071", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P10071" }, { "database": "PubMed", "id": "20865152", "url": "https://glygen.org/publication/PubMed/20865152" } ], "site_lbl": "Ser343" }, { "start_pos": 664, "end_pos": 664, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P10071", "url": "https://www.uniprot.org/uniprot/P10071" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" }, { "database": "iPTMnet", "id": "P10071", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P10071" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" } ], "site_lbl": "Ser664" }, { "start_pos": 669, "end_pos": 669, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P10071", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P10071" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" } ], "site_lbl": "Thr669" }, { "start_pos": 849, "end_pos": 849, "kinase_uniprot_canonical_ac": "P17612-1", "kinase_gene_name": "PRKACA", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P10071", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P10071" }, { "database": "PubMed", "id": "10693759", "url": "https://glygen.org/publication/PubMed/10693759" } ], "site_lbl": "Ser849" }, { "start_pos": 849, "end_pos": 849, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine; by PKA", "evidence": [ { "database": "UniProtKB", "id": "P10071", "url": "https://www.uniprot.org/uniprot/P10071" }, { "database": "PRO", "id": "P10071", "url": "http://purl.obolibrary.org/obo/P10071" }, { "database": "iPTMnet", "id": "P10071", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P10071" }, { "database": "PubMed", "id": "10693759", "url": "https://glygen.org/publication/PubMed/10693759" } ], "site_lbl": "Ser849" }, { "start_pos": 865, "end_pos": 865, "kinase_uniprot_canonical_ac": "P17612-1", "kinase_gene_name": "PRKACA", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P10071", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P10071" }, { "database": "PubMed", "id": "10693759", "url": "https://glygen.org/publication/PubMed/10693759" } ], "site_lbl": "Ser865" }, { "start_pos": 865, "end_pos": 865, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine; by PKA", "evidence": [ { "database": "UniProtKB", "id": "P10071", "url": "https://www.uniprot.org/uniprot/P10071" }, { "database": "PRO", "id": "P10071", "url": "http://purl.obolibrary.org/obo/P10071" }, { "database": "iPTMnet", "id": "P10071", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P10071" }, { "database": "PubMed", "id": "10693759", "url": "https://glygen.org/publication/PubMed/10693759" } ], "site_lbl": "Ser865" }, { "start_pos": 877, "end_pos": 877, "kinase_uniprot_canonical_ac": "P17612-1", "kinase_gene_name": "PRKACA", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P10071", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P10071" }, { "database": "PubMed", "id": "10693759", "url": "https://glygen.org/publication/PubMed/10693759" } ], "site_lbl": "Ser877" }, { "start_pos": 877, "end_pos": 877, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine; by PKA", "evidence": [ { "database": "UniProtKB", "id": "P10071", "url": "https://www.uniprot.org/uniprot/P10071" }, { "database": "PRO", "id": "P10071", "url": "http://purl.obolibrary.org/obo/P10071" }, { "database": "iPTMnet", "id": "P10071", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P10071" }, { "database": "PubMed", "id": "10693759", "url": "https://glygen.org/publication/PubMed/10693759" } ], "site_lbl": "Ser877" }, { "start_pos": 907, "end_pos": 907, "kinase_uniprot_canonical_ac": "P17612-1", "kinase_gene_name": "PRKACA", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P10071", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P10071" }, { "database": "PubMed", "id": "10693759", "url": "https://glygen.org/publication/PubMed/10693759" } ], "site_lbl": "Ser907" }, { "start_pos": 907, "end_pos": 907, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine; by PKA", "evidence": [ { "database": "UniProtKB", "id": "P10071", "url": "https://www.uniprot.org/uniprot/P10071" }, { "database": "PRO", "id": "P10071", "url": "http://purl.obolibrary.org/obo/P10071" }, { "database": "iPTMnet", "id": "P10071", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P10071" }, { "database": "PubMed", "id": "10693759", "url": "https://glygen.org/publication/PubMed/10693759" } ], "site_lbl": "Ser907" }, { "start_pos": 980, "end_pos": 980, "kinase_uniprot_canonical_ac": "P17612-1", "kinase_gene_name": "PRKACA", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P10071", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P10071" }, { "database": "PubMed", "id": "10693759", "url": "https://glygen.org/publication/PubMed/10693759" } ], "site_lbl": "Ser980" }, { "start_pos": 980, "end_pos": 980, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine; by PKA", "evidence": [ { "database": "UniProtKB", "id": "P10071", "url": "https://www.uniprot.org/uniprot/P10071" }, { "database": "PRO", "id": "P10071", "url": "http://purl.obolibrary.org/obo/P10071" }, { "database": "iPTMnet", "id": "P10071", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P10071" }, { "database": "PubMed", "id": "10693759", "url": "https://glygen.org/publication/PubMed/10693759" } ], "site_lbl": "Ser980" } ], "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": "Point mutations throughout the GLI3 gene cause Greig cephalopolysyndactyly syndrome.", "journal": "Human molecular genetics", "date": "1999", "authors": "Kalff-Suske M, Wild A, Topp J, Wessling M, Jacobsen EM, Bornholdt D, Engel H, Heuer H, Aalfs CM, Ausems MG, Barone R, Herzog A, Heutink P, Homfray T, Gillessen-Kaesbach G, Konig R, Kunze J, Meinecke P, Muller D, Rizzo R, Strenge S, Superti-Furga A, Grzeschik KH", "evidence": [ { "database": "UniProtKB", "id": "P10071", "url": "https://www.uniprot.org/uniprot/P10071" } ], "reference": [ { "type": "PubMed", "id": "10441342", "url": "https://glygen.org/publication/PubMed/10441342" } ] }, { "title": "The phenotypic spectrum of GLI3 morphopathies includes autosomal dominant preaxial polydactyly type-IV and postaxial polydactyly type-A/B; No phenotype prediction from the position of GLI3 mutations.", "journal": "American journal of human genetics", "date": "1999", "authors": "Radhakrishna U, Bornholdt D, Scott HS, Patel UC, Rossier C, Engel H, Bottani A, Chandal D, Blouin JL, Solanki JV, Grzeschik KH, Antonarakis SE", "evidence": [ { "database": "UniProtKB", "id": "P10071", "url": "https://www.uniprot.org/uniprot/P10071" } ], "reference": [ { "type": "PubMed", "id": "10441570", "url": "https://glygen.org/publication/PubMed/10441570" } ] }, { "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": "Hedgehog-regulated processing of Gli3 produces an anterior/posterior repressor gradient in the developing vertebrate limb.", "journal": "Cell", "date": "2000", "authors": "Wang B, Fallon JF, Beachy PA", "evidence": [ { "database": "UniProtKB", "id": "P10071", "url": "https://www.uniprot.org/uniprot/P10071" }, { "database": "Reactome", "id": "R-HSA-5610785", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610785" }, { "database": "iPTMnet", "id": "P10071", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P10071" } ], "reference": [ { "type": "PubMed", "id": "10693759", "url": "https://glygen.org/publication/PubMed/10693759" } ] }, { "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": "Cbfa1 contributes to the osteoblast-specific expression of type I collagen genes.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Kern B, Shen J, Starbuck M, Karsenty G", "evidence": [ { "database": "Reactome", "id": "R-HSA-8940973", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8940973" } ], "reference": [ { "type": "PubMed", "id": "11106645", "url": "https://glygen.org/publication/PubMed/11106645" } ] }, { "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": "P10071", "url": "https://www.uniprot.org/uniprot/P10071" } ], "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": "The retinoblastoma protein acts as a transcriptional coactivator required for osteogenic differentiation.", "journal": "Molecular cell", "date": "2001", "authors": "Thomas DM, Carty SA, Piscopo DM, Lee JS, Wang WF, Forrester WC, Hinds PW", "evidence": [ { "database": "Reactome", "id": "R-HSA-8940973", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8940973" } ], "reference": [ { "type": "PubMed", "id": "11545733", "url": "https://glygen.org/publication/PubMed/11545733" } ] }, { "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": "Serine phosphorylation of RUNX2 with novel potential functions as negative regulatory mechanisms.", "journal": "EMBO reports", "date": "2002", "authors": "Wee HJ, Huang G, Shigesada K, Ito Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-8940973", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8940973" } ], "reference": [ { "type": "PubMed", "id": "12231506", "url": "https://glygen.org/publication/PubMed/12231506" } ] }, { "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": "Runx2 (Cbfa1, AML-3) interacts with histone deacetylase 6 and represses the p21(CIP1/WAF1) promoter.", "journal": "Molecular and cellular biology", "date": "2002", "authors": "Westendorf JJ, Zaidi SK, Cascino JE, Kahler R, van Wijnen AJ, Lian JB, Yoshida M, Stein GS, Li X", "evidence": [ { "database": "Reactome", "id": "R-HSA-8940973", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8940973" } ], "reference": [ { "type": "PubMed", "id": "12391164", "url": "https://glygen.org/publication/PubMed/12391164" } ] }, { "title": "De novo GLI3 mutation in acrocallosal syndrome: broadening the phenotypic spectrum of GLI3 defects and overlap with murine models.", "journal": "Journal of medical genetics", "date": "2002", "authors": "Elson E, Perveen R, Donnai D, Wall S, Black GC", "evidence": [ { "database": "UniProtKB", "id": "P10071", "url": "https://www.uniprot.org/uniprot/P10071" } ], "reference": [ { "type": "PubMed", "id": "12414818", "url": "https://glygen.org/publication/PubMed/12414818" } ] }, { "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": "Transcriptional coactivation of bone-specific transcription factor Cbfa1 by TAZ.", "journal": "Molecular and cellular biology", "date": "2003", "authors": "Cui CB, Cooper LF, Yang X, Karsenty G, Aukhil I", "evidence": [ { "database": "Reactome", "id": "R-HSA-8940973", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8940973" } ], "reference": [ { "type": "PubMed", "id": "12529404", "url": "https://glygen.org/publication/PubMed/12529404" } ] }, { "title": "Variable phenotype in Greig cephalopolysyndactyly syndrome: clinical and radiological findings in 4 independent families and 3 sporadic cases with identified GLI3 mutations.", "journal": "American journal of medical genetics. Part A", "date": "2003", "authors": "Debeer P, Peeters H, Driess S, De Smet L, Freese K, Matthijs G, Bornholdt D, Devriendt K, Grzeschik KH, Fryns JP, Kalff-Suske M", "evidence": [ { "database": "UniProtKB", "id": "P10071", "url": "https://www.uniprot.org/uniprot/P10071" } ], "reference": [ { "type": "PubMed", "id": "12794692", "url": "https://glygen.org/publication/PubMed/12794692" } ] }, { "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": "Tyrosine phosphorylation controls Runx2-mediated subnuclear targeting of YAP to repress transcription.", "journal": "The EMBO journal", "date": "2004", "authors": "Zaidi SK, Sullivan AJ, Medina R, Ito Y, van Wijnen AJ, Stein JL, Lian JB, Stein GS", "evidence": [ { "database": "Reactome", "id": "R-HSA-8940973", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8940973" } ], "reference": [ { "type": "PubMed", "id": "14765127", "url": "https://glygen.org/publication/PubMed/14765127" } ] }, { "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": "Mutations in NOTCH1 cause aortic valve disease.", "journal": "Nature", "date": "2005", "authors": "Garg V, Muth AN, Ransom JF, Schluterman MK, Barnes R, King IN, Grossfeld PD, Srivastava D", "evidence": [ { "database": "Reactome", "id": "R-HSA-8940973", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8940973" } ], "reference": [ { "type": "PubMed", "id": "16025100", "url": "https://glygen.org/publication/PubMed/16025100" } ] }, { "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": "TAZ, a transcriptional modulator of mesenchymal stem cell differentiation.", "journal": "Science (New York, N.Y.)", "date": "2005", "authors": "Hong JH, Hwang ES, McManus MT, Amsterdam A, Tian Y, Kalmukova R, Mueller E, Benjamin T, Spiegelman BM, Sharp PA, Hopkins N, Yaffe MB", "evidence": [ { "database": "Reactome", "id": "R-HSA-8940973", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8940973" } ], "reference": [ { "type": "PubMed", "id": "16099986", "url": "https://glygen.org/publication/PubMed/16099986" } ] }, { "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": "Evidence for the direct involvement of {beta}TrCP in Gli3 protein processing.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2006", "authors": "Wang B, Li Y", "evidence": [ { "database": "UniProtKB", "id": "P10071", "url": "https://www.uniprot.org/uniprot/P10071" }, { "database": "Reactome", "id": "R-HSA-5610785", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610785" } ], "reference": [ { "type": "PubMed", "id": "16371461", "url": "https://glygen.org/publication/PubMed/16371461" } ] }, { "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-5632684", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5632684" } ], "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-5610785", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610785" } ], "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": "UniProtKB", "id": "P10071", "url": "https://www.uniprot.org/uniprot/P10071" }, { "database": "Reactome", "id": "R-HSA-5610785", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610785" } ], "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": "SATB2 is a multifunctional determinant of craniofacial patterning and osteoblast differentiation.", "journal": "Cell", "date": "2006", "authors": "Dobreva G, Chahrour M, Dautzenberg M, Chirivella L, Kanzler B, Farinas I, Karsenty G, Grosschedl R", "evidence": [ { "database": "Reactome", "id": "R-HSA-8940973", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8940973" } ], "reference": [ { "type": "PubMed", "id": "16751105", "url": "https://glygen.org/publication/PubMed/16751105" } ] }, { "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": "P10071", "url": "https://www.uniprot.org/uniprot/P10071" } ], "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": "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.", "journal": "Cell", "date": "2006", "authors": "Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M", "evidence": [ { "database": "iPTMnet", "id": "P10071", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P10071" } ], "reference": [ { "type": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" } ] }, { "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-5632684", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5632684" } ], "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-5610785", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610785" } ], "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": "Characterization of the interactions of human ZIC3 mutants with GLI3.", "journal": "Human mutation", "date": "2008", "authors": "Zhu L, Zhou G, Poole S, Belmont JW", "evidence": [ { "database": "UniProtKB", "id": "P10071", "url": "https://www.uniprot.org/uniprot/P10071" } ], "reference": [ { "type": "PubMed", "id": "17764085", "url": "https://glygen.org/publication/PubMed/17764085" } ] }, { "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": "UniProtKB", "id": "P10071", "url": "https://www.uniprot.org/uniprot/P10071" }, { "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": "Patched1 haploinsufficiency increases adult bone mass and modulates Gli3 repressor activity.", "journal": "Developmental cell", "date": "2008", "authors": "Ohba S, Kawaguchi H, Kugimiya F, Ogasawara T, Kawamura N, Saito T, Ikeda T, Fujii K, Miyajima T, Kuramochi A, Miyashita T, Oda H, Nakamura K, Takato T, Chung UI", "evidence": [ { "database": "Reactome", "id": "R-HSA-8940973", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8940973" } ], "reference": [ { "type": "PubMed", "id": "18477452", "url": "https://glygen.org/publication/PubMed/18477452" } ] }, { "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": "Comprehensive genomic characterization defines human glioblastoma genes and core pathways.", "journal": "Nature", "date": "2008", "authors": "McLendon R, Friedman A, Bigner D, Van Meir EG, Brat DJ, Mastrogianakis GM, Olson JJ, Mikkelsen T, Lehman N, Aldape K, Yung WK, Bogler O, Weinstein JN, VandenBerg S, Berger M, Prados M, Muzny D, Morgan M, Scherer S, Sabo A, Nazareth L, Lewis L, Hall O, Zhu Y, Ren Y, Alvi O, Yao J, Hawes A, Jhangiani S, Fowler G, San Lucas A, Kovar C, Cree A, Dinh H, Santibanez J, Joshi V, Gonzalez-Garay ML, Miller CA, Milosavljevic A, Donehower L, Wheeler DA, Gibbs RA, Cibulskis K, Sougnez C, Fennell T, Mahan S, Wilkinson J, Ziaugra L, Onofrio R, Bloom T, Nicol R, Ardlie K, Baldwin J, Gabriel S, Lander ES, Ding L, Fulton RS, McLellan MD, Wallis J, Larson DE, Shi X, Abbott R, Fulton L, Chen K, Koboldt DC, Wendl MC, Meyer R, Tang Y, Lin L, Osborne JR, Dunford-Shore BH, Miner TL, Delehaunty K, Markovic C, Swift G, Courtney W, Pohl C, Abbott S, Hawkins A, Leong S, Haipek C, Schmidt H, Wiechert M, Vickery T, Scott S, Dooling DJ, Chinwalla A, Weinstock GM, Mardis ER, Wilson RK, Getz G, Winckler W, Verhaak RG, Lawrence MS, O'Kelly M, Robinson J, Alexe G, Beroukhim R, Carter S, Chiang D, Gould J, Gupta S, Korn J, Mermel C, Mesirov J, Monti S, Nguyen H, Parkin M, Reich M, Stransky N, Weir BA, Garraway L, Golub T, Meyerson M, Chin L, Protopopov A, Zhang J, Perna I, Aronson S, Sathiamoorthy N, Ren G, Yao J, Wiedemeyer WR, Kim H, Kong SW, Xiao Y, Kohane IS, Seidman J, Park PJ, Kucherlapati R, Laird PW, Cope L, Herman JG, Weisenberger DJ, Pan F, Van den Berg D, Van Neste L, Yi JM, Schuebel KE, Baylin SB, Absher DM, Li JZ, Southwick A, Brady S, Aggarwal A, Chung T, Sherlock G, Brooks JD, Myers RM, Spellman PT, Purdom E, Jakkula LR, Lapuk AV, Marr H, Dorton S, Choi YG, Han J, Ray A, Wang V, Durinck S, Robinson M, Wang NJ, Vranizan K, Peng V, Van Name E, Fontenay GV, Ngai J, Conboy JG, Parvin B, Feiler HS, Speed TP, Gray JW, Brennan C, Socci ND, Olshen A, Taylor BS, Lash A, Schultz N, Reva B, Antipin Y, Stukalov A, Gross B, Cerami E, Wang WQ, Qin LX, Seshan VE, Villafania L, Cavatore M, Borsu L, Viale A, Gerald W, Sander C, Ladanyi M, Perou CM, Hayes DN, Topal MD, Hoadley KA, Qi Y, Balu S, Shi Y, Wu J, Penny R, Bittner M, Shelton T, Lenkiewicz E, Morris S, Beasley D, Sanders S, Kahn A, Sfeir R, Chen J, Nassau D, Feng L, Hickey E, Barker A, Gerhard DS, Vockley J, Compton C, Vaught J, Fielding P, Ferguson ML, Schaefer C, Zhang J, Madhavan S, Buetow KH, Collins F, Good P, Guyer M, Ozenberger B, Peterson J, Thomson E", "evidence": [ { "database": "dbSNP", "id": "rs1262185592", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1262185592" } ], "reference": [ { "type": "PubMed", "id": "18772890", "url": "https://glygen.org/publication/PubMed/18772890" } ] }, { "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": "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": "Trps1, a regulator of chondrocyte proliferation and differentiation, interacts with the activator form of Gli3.", "journal": "Dev. Biol.", "date": "2009", "authors": "Wuelling M, Kaiser FJ, Buelens LA, Braunholz D, Shivdasani RA, Depping R, Vortkamp A", "evidence": [ { "database": "UniProtKB", "id": "P10071", "url": "https://www.uniprot.org/uniprot/P10071" } ], "reference": [ { "type": "PubMed", "id": "19389374", "url": "https://glygen.org/publication/PubMed/19389374" } ] }, { "title": "Repression of Runx2 by androgen receptor (AR) in osteoblasts and prostate cancer cells: AR binds Runx2 and abrogates its recruitment to DNA.", "journal": "Molecular endocrinology (Baltimore, Md.)", "date": "2009", "authors": "Baniwal SK, Khalid O, Sir D, Buchanan G, Coetzee GA, Frenkel B", "evidence": [ { "database": "Reactome", "id": "R-HSA-8940973", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8940973" } ], "reference": [ { "type": "PubMed", "id": "19389811", "url": "https://glygen.org/publication/PubMed/19389811" } ] }, { "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": "Curr. Biol.", "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": "UniProtKB", "id": "P10071", "url": "https://www.uniprot.org/uniprot/P10071" }, { "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": "Global effects of kinase inhibitors on signaling networks revealed by quantitative phosphoproteomics.", "journal": "Molecular & cellular proteomics : MCP", "date": "2009", "authors": "Pan C, Olsen JV, Daub H, Mann M", "evidence": [ { "database": "iPTMnet", "id": "P10071", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P10071" } ], "reference": [ { "type": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" } ] }, { "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": "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": "Identification and functional characterization of ERK/MAPK phosphorylation sites in the Runx2 transcription factor.", "journal": "The Journal of biological chemistry", "date": "2009", "authors": "Ge C, Xiao G, Jiang D, Yang Q, Hatch NE, Roca H, Franceschi RT", "evidence": [ { "database": "Reactome", "id": "R-HSA-8940973", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8940973" } ], "reference": [ { "type": "PubMed", "id": "19801668", "url": "https://glygen.org/publication/PubMed/19801668" } ] }, { "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": "Exp. Cell Res.", "date": "2010", "authors": "Maloverjan A, Piirsoo M, Michelson P, Kogerman P, Osterlund T", "evidence": [ { "database": "UniProtKB", "id": "P10071", "url": "https://www.uniprot.org/uniprot/P10071" }, { "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": "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-5610785", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610785" } ], "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": "Rb regulates fate choice and lineage commitment in vivo.", "journal": "Nature", "date": "2010", "authors": "Calo E, Quintero-Estades JA, Danielian PS, Nedelcu S, Berman SD, Lees JA", "evidence": [ { "database": "Reactome", "id": "R-HSA-8940973", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8940973" } ], "reference": [ { "type": "PubMed", "id": "20686481", "url": "https://glygen.org/publication/PubMed/20686481" } ] }, { "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-5632684", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5632684" } ], "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": "P10071", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P10071" } ], "reference": [ { "type": "PubMed", "id": "20865152", "url": "https://glygen.org/publication/PubMed/20865152" } ] }, { "title": "Maf promotes osteoblast differentiation in mice by mediating the age-related switch in mesenchymal cell differentiation.", "journal": "The Journal of clinical investigation", "date": "2010", "authors": "Nishikawa K, Nakashima T, Takeda S, Isogai M, Hamada M, Kimura A, Kodama T, Yamaguchi A, Owen MJ, Takahashi S, Takayanagi H", "evidence": [ { "database": "Reactome", "id": "R-HSA-8940973", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8940973" } ], "reference": [ { "type": "PubMed", "id": "20877012", "url": "https://glygen.org/publication/PubMed/20877012" } ] }, { "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": "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": "Zfp521 controls bone mass by HDAC3-dependent attenuation of Runx2 activity.", "journal": "The Journal of cell biology", "date": "2010", "authors": "Hesse E, Saito H, Kiviranta R, Correa D, Yamana K, Neff L, Toben D, Duda G, Atfi A, Geoffroy V, Horne WC, Baron R", "evidence": [ { "database": "Reactome", "id": "R-HSA-8940973", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8940973" } ], "reference": [ { "type": "PubMed", "id": "21173110", "url": "https://glygen.org/publication/PubMed/21173110" } ] }, { "title": "GLI3 encodes a 190-kilodalton protein with multiple regions of GLI similarity.", "journal": "Mol. Cell. Biol.", "date": "1990", "authors": "Ruppert J M, Vogelstein B, Arheden K, Kinzler K W", "evidence": [ { "database": "UniProtKB", "id": "P10071", "url": "https://www.uniprot.org/uniprot/P10071" } ], "reference": [ { "type": "PubMed", "id": "2118997", "url": "https://glygen.org/publication/PubMed/2118997" } ] }, { "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": "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.", "journal": "Science signaling", "date": "2011", "authors": "Rigbolt KT, Prokhorova TA, Akimov V, Henningsen J, Johansen PT, Kratchmarova I, Kassem M, Mann M, Olsen JV, Blagoev B", "evidence": [ { "database": "UniProtKB", "id": "P10071", "url": "https://www.uniprot.org/uniprot/P10071" }, { "database": "iPTMnet", "id": "P10071", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P10071" } ], "reference": [ { "type": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" } ] }, { "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": "A three-part signal governs differential processing of Gli1 and Gli3 proteins by the proteasome.", "journal": "The Journal of biological chemistry", "date": "2011", "authors": "Schrader EK, Harstad KG, Holmgren RA, Matouschek A", "evidence": [ { "database": "Reactome", "id": "R-HSA-5610785", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610785" } ], "reference": [ { "type": "PubMed", "id": "21921029", "url": "https://glygen.org/publication/PubMed/21921029" } ] }, { "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 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": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "P10071", "url": "https://www.uniprot.org/uniprot/P10071" }, { "database": "iPTMnet", "id": "P10071", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P10071" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "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": "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": "J. Biol. Chem.", "date": "2013", "authors": "Wang C, Low WC, Liu A, Wang B", "evidence": [ { "database": "UniProtKB", "id": "P10071", "url": "https://www.uniprot.org/uniprot/P10071" }, { "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": "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 Crystallogr. D", "date": "2013", "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": "P10071", "url": "https://www.uniprot.org/uniprot/P10071" } ], "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": "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": "Ucma, a direct transcriptional target of Runx2 and Osterix, promotes osteoblast differentiation and nodule formation.", "journal": "Osteoarthritis and cartilage", "date": "2015", "authors": "Lee YJ, Park SY, Lee SJ, Boo YC, Choi JY, Kim JE", "evidence": [ { "database": "Reactome", "id": "R-HSA-8940973", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8940973" } ], "reference": [ { "type": "PubMed", "id": "25865393", "url": "https://glygen.org/publication/PubMed/25865393" } ] }, { "title": "Bone and Muscle Endocrine Functions: Unexpected Paradigms of Inter-organ Communication.", "journal": "Cell", "date": "2016", "authors": "Karsenty G, Olson EN", "evidence": [ { "database": "Reactome", "id": "R-HSA-8940973", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8940973" } ], "reference": [ { "type": "PubMed", "id": "26967290", "url": "https://glygen.org/publication/PubMed/26967290" } ] }, { "title": "Reciprocal stabilization of ABL and TAZ regulates osteoblastogenesis through transcription factor RUNX2.", "journal": "The Journal of clinical investigation", "date": "2016", "authors": "Matsumoto Y, La Rose J, Kent OA, Wagner MJ, Narimatsu M, Levy AD, Omar MH, Tong J, Krieger JR, Riggs E, Storozhuk Y, Pasquale J, Ventura M, Yeganeh B, Post M, Moran MF, Grynpas MD, Wrana JL, Superti-Furga G, Koleske AJ, Pendergast AM, Rottapel R", "evidence": [ { "database": "Reactome", "id": "R-HSA-8940973", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8940973" } ], "reference": [ { "type": "PubMed", "id": "27797343", "url": "https://glygen.org/publication/PubMed/27797343" } ] }, { "title": "A novel strategy for global mapping of O-GlcNAc proteins and peptides using selective enzymatic deglycosylation, HILIC enrichment and mass spectrometry identification.", "journal": "Talanta", "date": "2017", "authors": "Shen B, Zhang W, Shi Z, Tian F, Deng Y, Sun C, Wang G, Qin W, Qian X", "evidence": [ { "database": "O-GlcNAc Database", "id": "P10071", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P10071" } ], "reference": [ { "type": "PubMed", "id": "28411811", "url": "https://glygen.org/publication/PubMed/28411811" } ] }, { "title": "The GLI-Kruppel family of human genes.", "journal": "Mol. Cell. Biol.", "date": "1988", "authors": "Ruppert JM, Kinzler KW, Wong AJ, Bigner SH, Kao FT, Law ML, Seuanez HN, O'Brien SJ, Vogelstein B", "evidence": [ { "database": "UniProtKB", "id": "P10071", "url": "https://www.uniprot.org/uniprot/P10071" } ], "reference": [ { "type": "PubMed", "id": "2850480", "url": "https://glygen.org/publication/PubMed/2850480" } ] }, { "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": "P10071", "url": "https://www.uniprot.org/uniprot/P10071" } ], "reference": [ { "type": "PubMed", "id": "28965847", "url": "https://glygen.org/publication/PubMed/28965847" } ] }, { "title": "WDR11-mediated Hedgehog signalling defects underlie a new ciliopathy related to Kallmann syndrome.", "journal": "EMBO Rep.", "date": "2018", "authors": "Kim YJ, Osborn DP, Lee JY, Araki M, Araki K, Mohun T, Kansakoski J, Brandstack N, Kim HT, Miralles F, Kim CH, Brown NA, Kim HG, Martinez-Barbera JP, Ataliotis P, Raivio T, Layman LC, Kim SH", "evidence": [ { "database": "UniProtKB", "id": "P10071", "url": "https://www.uniprot.org/uniprot/P10071" } ], "reference": [ { "type": "PubMed", "id": "29263200", "url": "https://glygen.org/publication/PubMed/29263200" } ] }, { "title": "An Isotope-Coded Photocleavable Probe for Quantitative Profiling of Protein O-GlcNAcylation.", "journal": "ACS chemical biology", "date": "2019", "authors": "Li J, Li Z, Duan X, Qin K, Dang L, Sun S, Cai L, Hsieh-Wilson LC, Wu L, Yi W", "evidence": [ { "database": "O-GlcNAc Database", "id": "P10071", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P10071" }, { "database": "O-GlcNAc Atlas", "id": "P10071", "url": "https://oglcnac.org/atlas/detail/P10071" } ], "reference": [ { "type": "PubMed", "id": "30620550", "url": "https://glygen.org/publication/PubMed/30620550" } ] }, { "title": "Two nonsense GLI3 variants are associated with polydactyly and syndactyly in two families by affecting the sonic hedgehog signaling pathway.", "journal": "Molecular genetics & genomic medicine", "date": "2022", "authors": "Shen X, Zhang S, Zhang X, Zhou T, Rui Y", "evidence": [ { "database": "RefSeq", "id": "NP_000159", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000159" } ], "reference": [ { "type": "PubMed", "id": "35218158", "url": "https://glygen.org/publication/PubMed/35218158" } ] }, { "title": "A novel variant of GLI3, p.Asp1514Thrfs*5, is identified in a Chinese family affected by polydactyly.", "journal": "Molecular genetics & genomic medicine", "date": "2022", "authors": "Wang Y, Hao X, Jia X, Ji W, Yuan S, Gnamey EJA, Huang M, Xu L, Zhang X, Bai J, Sun W, Fu S, Liu Y, Wu J", "evidence": [ { "database": "RefSeq", "id": "NP_000159", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000159" } ], "reference": [ { "type": "PubMed", "id": "35546307", "url": "https://glygen.org/publication/PubMed/35546307" } ] }, { "title": "A novel mechanism of regulation of the oncogenic transcription factor GLI3 by toll-like receptor signaling.", "journal": "Oncotarget", "date": "2022", "authors": "Matissek SJ, Karbalivand M, Han W, Boutilier A, Yzar-Garcia E, Kehoe LL, Gardner DS, Hage A, Fleck K, Jeffers V, Rajsbaum R, Elsawa SF", "evidence": [ { "database": "RefSeq", "id": "NP_000159", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000159" } ], "reference": [ { "type": "PubMed", "id": "35937499", "url": "https://glygen.org/publication/PubMed/35937499" } ] }, { "title": "Conclusion of diagnostic odysseys due to inversions disrupting GLI3 and FBN1.", "journal": "Journal of medical genetics", "date": "2022-11-21", "authors": "Pagnamenta Alistair T, Yu Jing, Evans Julie, Twiss Philip, , , Offiah Amaka C, Wafik Mohamed, Mehta Sarju G, Javaid Mohammed K, Smithson Sarah F, Taylor Jenny C", "evidence": [ { "database": "RefSeq", "id": "NP_000159", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000159" } ], "reference": [ { "type": "PubMed", "id": "36411030", "url": "https://glygen.org/publication/PubMed/36411030" } ] }, { "title": "Two distinct osteoblast-specific cis-acting elements control expression of a mouse osteocalcin gene.", "journal": "Molecular and cellular biology", "date": "1995", "authors": "Ducy P, Karsenty G", "evidence": [ { "database": "Reactome", "id": "R-HSA-8940973", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8940973" } ], "reference": [ { "type": "PubMed", "id": "7891679", "url": "https://glygen.org/publication/PubMed/7891679" } ] }, { "title": "Osf2/Cbfa1: a transcriptional activator of osteoblast differentiation.", "journal": "Cell", "date": "1997", "authors": "Ducy P, Zhang R, Geoffroy V, Ridall AL, Karsenty G", "evidence": [ { "database": "Reactome", "id": "R-HSA-8940973", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8940973" } ], "reference": [ { "type": "PubMed", "id": "9182762", "url": "https://glygen.org/publication/PubMed/9182762" } ] }, { "title": "Point mutations in human GLI3 cause Greig syndrome.", "journal": "Human molecular genetics", "date": "1997", "authors": "Wild A, Kalff-Suske M, Vortkamp A, Bornholdt D, Konig R, Grzeschik KH", "evidence": [ { "database": "UniProtKB", "id": "P10071", "url": "https://www.uniprot.org/uniprot/P10071" } ], "reference": [ { "type": "PubMed", "id": "9302279", "url": "https://glygen.org/publication/PubMed/9302279" } ] }, { "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:2737", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:2737", "resource": "KEGG Pathway" }, { "id": "R-HSA-5610785", "name": "GLI3 is processed to GLI3R by the proteasome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610785", "resource": "Reactome", "description": "GLI3 is processed to GLI3R 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" }, { "id": "R-HSA-8940973", "name": "RUNX2 regulates osteoblast differentiation", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8940973", "resource": "Reactome", "description": "RUNX2 regulates osteoblast differentiation" } ], "orthologs": [ { "uniprot_canonical_ac": "F1M9H1-1", "protein_name": "GLI family zinc finger 3", "gene_name": "Gli3", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MEAQSHSSTTTERKKAESSIAKCPTRTDVSEKAVASSTTSNEDESAGQIYHRERRNAITMQPQSVQGLSKISEEPSTSSDERASLIKKEIHGSLPHLAEPSLPYRGTVFAMDPRNGYMEPHYHPPHLFPAFHPPVPIDARHHEGRYHYDPSPIPPLHVPSALSSSPTYPDLPFIRISPHRNPTAASESPFSPPHPYINPYMDYIRSLHSSPSLSMISAARGLSPTDAPHAGVSPAEYYHQMALLTGQRSPYADILPSAATAGAGAIHMEYLHAMDSTRFPSPRLSARPSRKRTLSISPLSDHSFDLQTMIRTSPNSLVTILNNSRSSSSASGSYGHLSASAISPALSFTYPSAPVSLHMHQQILSRQQSLGSAFGHSPPLIHPAPTFPTQRPIPGIPTVLNPVQVSSGPSESSQSKPTSESAVSSTGDPMHNKRSKIKPDEDLPSPGSRGQQEQPEGTTLVKEEGDKDESKQEPEVIYETNCHWEGCTREFDTQDQLVHHINNDHIHGEKKEFVCRWLDCSREQKPFKAQYMLVVHMRRHTGEKPHKCTFEGCTKAYSRLENLKTHLRSHTGEKPYVCEHEGCNKAFSNASDRAKHQNRTHSNEKPYVCKIPGCTKRYTDPSSLRKHVKTVHGPEAHVTKKQRGDMHPRPPPPRDSGSHSQSRSPGRPTQGAFGEQKELSNTTSKREECLQVKTVKAEKPMTSQPSPGGQSSCSSQQSPISNYSNSGLELPLTDGGSIADLSAIDETPIMDSTISTATTALALQGRRNPAGTKWMEHIKLERLKQVNGMFPRLNPILPSKAPAVSPLIGNGTQSNNNYSSGGPGTLLPSRSDLSGVDFTVLNTLNRRDSNTSTISSAYLSSRRSSGISPCFSSRRSSEASQAEGRPQNVSVADSYDPISTDASRRSSEASQGDGLPSLLSLTPVQQYRLKAKYAAATGGPPPTPLPHMEKLSLKTRMALLGEGRDSGVTLPPVHPPRRCSDGGGHTYSRRHLLPHDALANSARRASDPVRTVSENMSLPRVQRFSSLNSFNPPNLPPSVEKRSLVLQNYTRQESTHPRYFQASPCPPSITENVALEALTMDADASLNDEDFLPDDVVQYLNSQNQTGYGQQLQSSISEDGKVAREPEDLDLPGLPDSHVGQQYPALEQPCSEGSKTDLPIQWNEVSSGSSDLSSSKLKCGQRPTVQQARGFGLYSNMVVHPQNLWKVGTGPAGGSQTLGENGSSYSDPEHFAVHSGDGLGPSGDTFHEQAYKTQQYGSQLSRQPLTSSVLDSACGAGIQGSKLKGNSLQENGGLLDFGLSMAPNELADNIVNGIQTQEQMGQGYIAPQLLSGSMQHQGPSRPGQQVLGQVGATSHINIYQGTESCLPGTQDKISQPSSMAVIRGYQPCASYGGSRRQAMPRGSLTLQQGQLSDVSQTSRVNSIKMEAHGQSHQLCSSMQNYSGQFYDQTMGFSQQDRKAGSFSLSEANCLLQENGSENSELLSPGVNQVTSTVDSFESHDLEGVQIDFDAIIDDGDHTSLMSGALSPSIIQNLSHSSSRLTTPRASLPFPSLSMSTTNMAIGDMSSLLTSLAEESKFLAVMQ", "length": 1582 }, "evidence": [ { "id": "45919366", "url": "http://www.informatics.jax.org/homology/45919366", "database": "MGI" }, { "id": "P10071", "url": "https://omabrowser.org/oma/group/P10071/", "database": "OMA" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q61602-1", "protein_name": "Transcriptional activator GLI3", "gene_name": "Gli3", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MEAQAHSSTATERKKAENSIGKCPTRTDVSEKAVASSTTSNEDESPGQIYHRERRNAITMQPQSVQGLNKISEEPSTSSDERASLIKKEIHGSLPHLAEPSLPYRGTVFAMDPRNGYMEPHYHPPHLFPAFHPPVPIDARHHEGRYHYDPSPIPPLHVPSALSSSPTYPDLPFIRISPHRNPTAASESPFSPPHPYINPYMDYIRSLHSSPSLSMISAARGLSPTDAPHAGVSPAEYYHQMALLTGQRSPYADILPSAATAGAGAIHMEYLHAMDSTRFPSPRLSARPSRKRTLSISPLSDHSFDLQTMIRTSPNSLVTILNNSRSSSSASGSYGHLSASAISPALSFTYPSAPVSLHMHQQILSRQQSLGSAFGHSPPLIHPAPTFPTQRPIPGIPTVLNPVQVSSGPSESSQSKPTSESAVSSTGDPMHNKRSKIKPDEDLPSPGSRGQQEQPEGTTLVKEEADKDESKQEPEVIYETNCHWEGCTREFDTQDQLVHHINNDHIHGEKKEFVCRWLDCSREQKPFKAQYMLVVHMRRHTGEKPHKCTFEGCTKAYSRLENLKTHLRSHTGEKPYVCEHEGCNKAFSNASDRAKHQNRTHSNEKPYVCKIPGCTKRYTDPSSLRKHVKTVHGPEAHVTKKQRGDMHPRPPPPRDSGSHSQSRSPGRPTQGAFGEQKELSNTTSKREECLQVKTVKAEKPMTSQPSPGGQSSCSSQQSPISNYSNSGLELPLTDGGSVADLSAIDETPIMDSTISTATTALALQARRNPAGTKWMEHIKLERLKQVNGMFPRLNPILPSKAPAVSPLIGNGTQSNNNYSSGGPGTLLPSRSDLSGVDFTVLNTLNRRDSNTSTISSAYLSSRRSSGISPCFSSRRSSEASQAEGRPQNVSVADSYDPISTDASRRSSEASQGDGLPSLLSLTPVQQYRLKAKYAAATGGPPPTPLPHMERLSLKTKMALLGEGRDSGVTLPPVHPPRRCSDGGGHTYRGRHLMPHDALANSVRRASDPVRTVSENMSLARVQRFSSLNSFNPPNLPPSVEKRSLVLQNYTRQESSQPRYFQASPCPPSITENVALEALTMDADANLNDEDLLPDDVVQYLNSQNQTGYGQQLQSGISEDSKVAHEPEDLDLAGLPDSHVGQEYPALEQPCSEGSKTDLPIQWNEVSSGTSDLSSSKLKCGQQRPSAQQPRGFGLYNNMVVHPHNLWKVGTGPAGGYQTLGENSSTYNGPEHFAIHSGDGLGTNGNTFHEQPFKTQQYGSQLNRQPLTSSALDHACGTGIQGSKLKGNSLQENGGLLDFSLSVAPNELAGNTVNGMQTQDQMGQGYIAHQLLSGSMQHQGPSRPGQQVLGQVGATSHINIYQGTESCLPGTQDNSSQPSSMAAIRGYQPCASYGGNRRQAMPRGNLTLQQGQLSDMSQSSRVNSIKMEAQGQSQQLCSTVQNYSGQFYDQTMGFSQQDRKAGSFSLSDANCLLQGNGTENSELLSPGANQVTSTVDSFESHDLEGVQIDFDAIIDDGDHTSLMSGALSPSIIQNLSHSSSRLTTPRASLPFPSLSMGTTNMAIGDMSSLLTSLAEESKFLAVMQ", "length": 1583 }, "evidence": [ { "id": "45919366", "url": "http://www.informatics.jax.org/homology/45919366", "database": "MGI" }, { "id": "P10071", "url": "https://omabrowser.org/oma/group/P10071/", "database": "OMA" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Biological Process", "total": 70, "go_terms": [ { "name": "positive regulation of protein import into nucleus", "id": "GO:0042307", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042307", "evidence": [ { "database": "UniProtKB", "id": "P10071", "url": "https://www.uniprot.org/uniprot/P10071" } ], "pmid": "" }, { "name": "hindgut morphogenesis", "id": "GO:0007442", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007442", "evidence": [ { "database": "UniProtKB", "id": "P10071", "url": "https://www.uniprot.org/uniprot/P10071" } ], "pmid": "" }, { "name": "smoothened signaling pathway involved in ventral spinal cord interneuron specification", "id": "GO:0021775", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021775", "evidence": [ { "database": "UniProtKB", "id": "P10071", "url": "https://www.uniprot.org/uniprot/P10071" } ], "pmid": "" }, { "name": "smoothened signaling pathway involved in spinal cord motor neuron cell fate specification", "id": "GO:0021776", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021776", "evidence": [ { "database": "UniProtKB", "id": "P10071", "url": "https://www.uniprot.org/uniprot/P10071" } ], "pmid": "" }, { "name": "forebrain radial glial cell differentiation", "id": "GO:0021861", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021861", "evidence": [ { "database": "UniProtKB", "id": "P10071", "url": "https://www.uniprot.org/uniprot/P10071" } ], "pmid": "" }, { "name": "lateral ganglionic eminence cell proliferation", "id": "GO:0022018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022018", "evidence": [ { "database": "UniProtKB", "id": "P10071", "url": "https://www.uniprot.org/uniprot/P10071" } ], "pmid": "" }, { "name": "nose morphogenesis", "id": "GO:0043585", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043585", "evidence": [ { "database": "UniProtKB", "id": "P10071", "url": "https://www.uniprot.org/uniprot/P10071" } ], "pmid": "" }, { "name": "negative regulation of alpha-beta T cell differentiation", "id": "GO:0046639", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046639", "evidence": [ { "database": "UniProtKB", "id": "P10071", "url": "https://www.uniprot.org/uniprot/P10071" } ], "pmid": "" }, { "name": "frontal suture morphogenesis", "id": "GO:0060364", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060364", "evidence": [ { "database": "UniProtKB", "id": "P10071", "url": "https://www.uniprot.org/uniprot/P10071" } ], "pmid": "" }, { "name": "lambdoid suture morphogenesis", "id": "GO:0060366", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060366", "evidence": [ { "database": "UniProtKB", "id": "P10071", "url": "https://www.uniprot.org/uniprot/P10071" } ], "pmid": "" }, { "name": "sagittal suture morphogenesis", "id": "GO:0060367", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060367", "evidence": [ { "database": "UniProtKB", "id": "P10071", "url": "https://www.uniprot.org/uniprot/P10071" } ], "pmid": "" }, { "name": "mammary gland specification", "id": "GO:0060594", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060594", "evidence": [ { "database": "UniProtKB", "id": "P10071", "url": "https://www.uniprot.org/uniprot/P10071" } ], "pmid": "" }, { "name": "anterior semicircular canal development", "id": "GO:0060873", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060873", "evidence": [ { "database": "UniProtKB", "id": "P10071", "url": "https://www.uniprot.org/uniprot/P10071" } ], "pmid": "" }, { "name": "lateral semicircular canal development", "id": "GO:0060875", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060875", "evidence": [ { "database": "UniProtKB", "id": "P10071", "url": "https://www.uniprot.org/uniprot/P10071" } ], "pmid": "" }, { "name": "cell differentiation involved in kidney development", "id": "GO:0061005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061005", "evidence": [ { "database": "UniProtKB", "id": "P10071", "url": "https://www.uniprot.org/uniprot/P10071" } ], "pmid": "" }, { "name": "regulation of bone development", "id": "GO:1903010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903010", "evidence": [ { "database": "UniProtKB", "id": "P10071", "url": "https://www.uniprot.org/uniprot/P10071" } ], "pmid": "" }, { "name": "negative regulation of stem cell proliferation", "id": "GO:2000647", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000647", "evidence": [ { "database": "UniProtKB", "id": "P10071", "url": "https://www.uniprot.org/uniprot/P10071" } ], "pmid": "" }, { "name": "negative regulation of transcription by RNA polymerase II", "id": "GO:0000122", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000122", "evidence": [ { "database": "UniProtKB", "id": "P10071", "url": "https://www.uniprot.org/uniprot/P10071" } ], "pmid": "" }, { "name": "in utero embryonic development", "id": "GO:0001701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001701", "evidence": [ { "database": "UniProtKB", "id": "P10071", "url": "https://www.uniprot.org/uniprot/P10071" } ], "pmid": "" }, { "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": "P10071", "url": "https://www.uniprot.org/uniprot/P10071" } ], "pmid": "" }, { "name": "heart development", "id": "GO:0007507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007507", "evidence": [ { "database": "UniProtKB", "id": "P10071", "url": "https://www.uniprot.org/uniprot/P10071" } ], "pmid": "" }, { "name": "protein processing", "id": "GO:0016485", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016485", "evidence": [ { "database": "UniProtKB", "id": "P10071", "url": "https://www.uniprot.org/uniprot/P10071" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "P10071", "url": "https://www.uniprot.org/uniprot/P10071" } ], "pmid": "" }, { "name": "negative regulation of neuron differentiation", "id": "GO:0045665", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045665", "evidence": [ { "database": "UniProtKB", "id": "P10071", "url": "https://www.uniprot.org/uniprot/P10071" } ], "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": "P10071", "url": "https://www.uniprot.org/uniprot/P10071" } ], "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": "P10071", "url": "https://www.uniprot.org/uniprot/P10071" } ], "pmid": "" }, { "name": "hippocampus development", "id": "GO:0021766", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021766", "evidence": [ { "database": "UniProtKB", "id": "P10071", "url": "https://www.uniprot.org/uniprot/P10071" } ], "pmid": "" }, { "name": "lung development", "id": "GO:0030324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030324", "evidence": [ { "database": "UniProtKB", "id": "P10071", "url": "https://www.uniprot.org/uniprot/P10071" } ], "pmid": "" }, { "name": "negative regulation of DNA-templated transcription", "id": "GO:0045892", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045892", "evidence": [ { "database": "UniProtKB", "id": "P10071", "url": "https://www.uniprot.org/uniprot/P10071" } ], "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": "P10071", "url": "https://www.uniprot.org/uniprot/P10071" } ], "pmid": "" }, { "name": "positive regulation of alpha-beta T cell differentiation", "id": "GO:0046638", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046638", "evidence": [ { "database": "UniProtKB", "id": "P10071", "url": "https://www.uniprot.org/uniprot/P10071" } ], "pmid": "" }, { "name": "embryonic digestive tract development", "id": "GO:0048566", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048566", "evidence": [ { "database": "UniProtKB", "id": "P10071", "url": "https://www.uniprot.org/uniprot/P10071" } ], "pmid": "" }, { "name": "anterior/posterior pattern specification", "id": "GO:0009952", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009952", "evidence": [ { "database": "UniProtKB", "id": "P10071", "url": "https://www.uniprot.org/uniprot/P10071" } ], "pmid": "" }, { "name": "proximal/distal pattern formation", "id": "GO:0009954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009954", "evidence": [ { "database": "UniProtKB", "id": "P10071", "url": "https://www.uniprot.org/uniprot/P10071" } ], "pmid": "" }, { "name": "alpha-beta T cell differentiation", "id": "GO:0046632", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046632", "evidence": [ { "database": "UniProtKB", "id": "P10071", "url": "https://www.uniprot.org/uniprot/P10071" } ], "pmid": "" }, { "name": "optic nerve morphogenesis", "id": "GO:0021631", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021631", "evidence": [ { "database": "UniProtKB", "id": "P10071", "url": "https://www.uniprot.org/uniprot/P10071" } ], "pmid": "" }, { "name": "positive regulation of chondrocyte differentiation", "id": "GO:0032332", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032332", "evidence": [ { "database": "UniProtKB", "id": "P10071", "url": "https://www.uniprot.org/uniprot/P10071" } ], "pmid": "" }, { "name": "artery development", "id": "GO:0060840", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060840", "evidence": [ { "database": "UniProtKB", "id": "P10071", "url": "https://www.uniprot.org/uniprot/P10071" } ], "pmid": "" }, { "name": "odontogenesis of dentin-containing tooth", "id": "GO:0042475", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042475", "evidence": [ { "database": "UniProtKB", "id": "P10071", "url": "https://www.uniprot.org/uniprot/P10071" } ], "pmid": "" }, { "name": "roof of mouth development", "id": "GO:0060021", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060021", "evidence": [ { "database": "UniProtKB", "id": "P10071", "url": "https://www.uniprot.org/uniprot/P10071" } ], "pmid": "" }, { "name": "layer formation in cerebral cortex", "id": "GO:0021819", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021819", "evidence": [ { "database": "UniProtKB", "id": "P10071", "url": "https://www.uniprot.org/uniprot/P10071" } ], "pmid": "" }, { "name": "positive regulation of osteoblast differentiation", "id": "GO:0045669", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045669", "evidence": [ { "database": "UniProtKB", "id": "P10071", "url": "https://www.uniprot.org/uniprot/P10071" } ], "pmid": "" }, { "name": "developmental growth", "id": "GO:0048589", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048589", "evidence": [ { "database": "UniProtKB", "id": "P10071", "url": "https://www.uniprot.org/uniprot/P10071" } ], "pmid": "" }, { "name": "osteoblast differentiation", "id": "GO:0001649", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001649", "evidence": [ { "database": "UniProtKB", "id": "P10071", "url": "https://www.uniprot.org/uniprot/P10071" } ], "pmid": "" }, { "name": "chondrocyte differentiation", "id": "GO:0002062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002062", "evidence": [ { "database": "UniProtKB", "id": "P10071", "url": "https://www.uniprot.org/uniprot/P10071" } ], "pmid": "" }, { "name": "embryonic digit morphogenesis", "id": "GO:0042733", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042733", "evidence": [ { "database": "UniProtKB", "id": "P10071", "url": "https://www.uniprot.org/uniprot/P10071" } ], "pmid": "" }, { "name": "T cell differentiation in thymus", "id": "GO:0033077", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033077", "evidence": [ { "database": "UniProtKB", "id": "P10071", "url": "https://www.uniprot.org/uniprot/P10071" } ], "pmid": "" }, { "name": "negative thymic T cell selection", "id": "GO:0045060", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045060", "evidence": [ { "database": "UniProtKB", "id": "P10071", "url": "https://www.uniprot.org/uniprot/P10071" } ], "pmid": "" }, { "name": "metanephros development", "id": "GO:0001656", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001656", "evidence": [ { "database": "UniProtKB", "id": "P10071", "url": "https://www.uniprot.org/uniprot/P10071" } ], "pmid": "" }, { "name": "smoothened signaling pathway", "id": "GO:0007224", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007224", "evidence": [ { "database": "UniProtKB", "id": "P10071", "url": "https://www.uniprot.org/uniprot/P10071" } ], "pmid": "" }, { "name": "camera-type eye morphogenesis", "id": "GO:0048593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048593", "evidence": [ { "database": "UniProtKB", "id": "P10071", "url": "https://www.uniprot.org/uniprot/P10071" } ], "pmid": "" }, { "name": "axon guidance", "id": "GO:0007411", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007411", "evidence": [ { "database": "UniProtKB", "id": "P10071", "url": "https://www.uniprot.org/uniprot/P10071" } ], "pmid": "" }, { "name": "neuroblast proliferation", "id": "GO:0007405", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007405", "evidence": [ { "database": "UniProtKB", "id": "P10071", "url": "https://www.uniprot.org/uniprot/P10071" } ], "pmid": "" }, { "name": "branching involved in ureteric bud morphogenesis", "id": "GO:0001658", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001658", "evidence": [ { "database": "UniProtKB", "id": "P10071", "url": "https://www.uniprot.org/uniprot/P10071" } ], "pmid": "" }, { "name": "positive regulation of neuroblast proliferation", "id": "GO:0002052", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002052", "evidence": [ { "database": "UniProtKB", "id": "P10071", "url": "https://www.uniprot.org/uniprot/P10071" } ], "pmid": "" }, { "name": "negative regulation of chondrocyte differentiation", "id": "GO:0032331", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032331", "evidence": [ { "database": "UniProtKB", "id": "P10071", "url": "https://www.uniprot.org/uniprot/P10071" } ], "pmid": "" }, { "name": "limb morphogenesis", "id": "GO:0035108", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035108", "evidence": [ { "database": "UniProtKB", "id": "P10071", "url": "https://www.uniprot.org/uniprot/P10071" } ], "pmid": "" }, { "name": "thymocyte apoptotic process", "id": "GO:0070242", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070242", "evidence": [ { "database": "UniProtKB", "id": "P10071", "url": "https://www.uniprot.org/uniprot/P10071" } ], "pmid": "" }, { "name": "tongue development", "id": "GO:0043586", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043586", "evidence": [ { "database": "UniProtKB", "id": "P10071", "url": "https://www.uniprot.org/uniprot/P10071" } ], "pmid": "" }, { "name": "stem cell proliferation", "id": "GO:0072089", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072089", "evidence": [ { "database": "UniProtKB", "id": "P10071", "url": "https://www.uniprot.org/uniprot/P10071" } ], "pmid": "" }, { "name": "forebrain dorsal/ventral pattern formation", "id": "GO:0021798", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021798", "evidence": [ { "database": "UniProtKB", "id": "P10071", "url": "https://www.uniprot.org/uniprot/P10071" } ], "pmid": "" }, { "name": "melanocyte differentiation", "id": "GO:0030318", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030318", "evidence": [ { "database": "UniProtKB", "id": "P10071", "url": "https://www.uniprot.org/uniprot/P10071" } ], "pmid": "" }, { "name": "embryonic neurocranium morphogenesis", "id": "GO:0048702", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048702", "evidence": [ { "database": "UniProtKB", "id": "P10071", "url": "https://www.uniprot.org/uniprot/P10071" } ], "pmid": "" }, { "name": "oligodendrocyte differentiation", "id": "GO:0048709", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048709", "evidence": [ { "database": "UniProtKB", "id": "P10071", "url": "https://www.uniprot.org/uniprot/P10071" } ], "pmid": "" }, { "name": "vocalization behavior", "id": "GO:0071625", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071625", "evidence": [ { "database": "UniProtKB", "id": "P10071", "url": "https://www.uniprot.org/uniprot/P10071" } ], "pmid": "" }, { "name": "smoothened signaling pathway involved in dorsal/ventral neural tube patterning", "id": "GO:0060831", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060831", "evidence": [ { "database": "UniProtKB", "id": "P10071", "url": "https://www.uniprot.org/uniprot/P10071" } ], "pmid": "" }, { "name": "negative regulation of smoothened signaling pathway", "id": "GO:0045879", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045879", "evidence": [ { "database": "UniProtKB", "id": "P10071", "url": "https://www.uniprot.org/uniprot/P10071" } ], "pmid": "" }, { "name": "protein import into nucleus", "id": "GO:0006606", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006606", "evidence": [ { "database": "UniProtKB", "id": "P10071", "url": "https://www.uniprot.org/uniprot/P10071" } ], "pmid": "" }, { "name": "embryonic digestive tract morphogenesis", "id": "GO:0048557", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048557", "evidence": [ { "database": "UniProtKB", "id": "P10071", "url": "https://www.uniprot.org/uniprot/P10071" } ], "pmid": "" }, { "name": "larynx morphogenesis", "id": "GO:0120223", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120223", "evidence": [ { "database": "UniProtKB", "id": "P10071", "url": "https://www.uniprot.org/uniprot/P10071" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 11, "go_terms": [ { "name": "chromatin binding", "id": "GO:0003682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003682", "evidence": [ { "database": "UniProtKB", "id": "P10071", "url": "https://www.uniprot.org/uniprot/P10071" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity", "id": "GO:0003700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003700", "evidence": [ { "database": "UniProtKB", "id": "P10071", "url": "https://www.uniprot.org/uniprot/P10071" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "P10071", "url": "https://www.uniprot.org/uniprot/P10071" } ], "pmid": "" }, { "name": "histone deacetylase binding", "id": "GO:0042826", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042826", "evidence": [ { "database": "UniProtKB", "id": "P10071", "url": "https://www.uniprot.org/uniprot/P10071" } ], "pmid": "" }, { "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": "P10071", "url": "https://www.uniprot.org/uniprot/P10071" } ], "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": "P10071", "url": "https://www.uniprot.org/uniprot/P10071" } ], "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": "P10071", "url": "https://www.uniprot.org/uniprot/P10071" } ], "pmid": "" }, { "name": "beta-catenin binding", "id": "GO:0008013", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008013", "evidence": [ { "database": "UniProtKB", "id": "P10071", "url": "https://www.uniprot.org/uniprot/P10071" } ], "pmid": "" }, { "name": "histone acetyltransferase binding", "id": "GO:0035035", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035035", "evidence": [ { "database": "UniProtKB", "id": "P10071", "url": "https://www.uniprot.org/uniprot/P10071" } ], "pmid": "" }, { "name": "mediator complex binding", "id": "GO:0036033", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036033", "evidence": [ { "database": "UniProtKB", "id": "P10071", "url": "https://www.uniprot.org/uniprot/P10071" } ], "pmid": "" }, { "name": "sequence-specific double-stranded DNA binding", "id": "GO:1990837", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990837", "evidence": [ { "database": "UniProtKB", "id": "P10071", "url": "https://www.uniprot.org/uniprot/P10071" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 13, "go_terms": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P10071", "url": "https://www.uniprot.org/uniprot/P10071" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "P10071", "url": "https://www.uniprot.org/uniprot/P10071" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "P10071", "url": "https://www.uniprot.org/uniprot/P10071" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P10071", "url": "https://www.uniprot.org/uniprot/P10071" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P10071", "url": "https://www.uniprot.org/uniprot/P10071" } ], "pmid": "" }, { "name": "cilium", "id": "GO:0005929", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005929", "evidence": [ { "database": "UniProtKB", "id": "P10071", "url": "https://www.uniprot.org/uniprot/P10071" } ], "pmid": "" }, { "name": "nuclear speck", "id": "GO:0016607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016607", "evidence": [ { "database": "UniProtKB", "id": "P10071", "url": "https://www.uniprot.org/uniprot/P10071" } ], "pmid": "" }, { "name": "intracellular membrane-bounded organelle", "id": "GO:0043231", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043231", "evidence": [ { "database": "UniProtKB", "id": "P10071", "url": "https://www.uniprot.org/uniprot/P10071" } ], "pmid": "" }, { "name": "transcription repressor complex", "id": "GO:0017053", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017053", "evidence": [ { "database": "UniProtKB", "id": "P10071", "url": "https://www.uniprot.org/uniprot/P10071" } ], "pmid": "" }, { "name": "axoneme", "id": "GO:0005930", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005930", "evidence": [ { "database": "UniProtKB", "id": "P10071", "url": "https://www.uniprot.org/uniprot/P10071" } ], "pmid": "" }, { "name": "ciliary base", "id": "GO:0097546", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097546", "evidence": [ { "database": "UniProtKB", "id": "P10071", "url": "https://www.uniprot.org/uniprot/P10071" } ], "pmid": "" }, { "name": "ciliary tip", "id": "GO:0097542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097542", "evidence": [ { "database": "UniProtKB", "id": "P10071", "url": "https://www.uniprot.org/uniprot/P10071" } ], "pmid": "" }, { "name": "GLI-SUFU complex", "id": "GO:1990788", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990788", "evidence": [ { "database": "UniProtKB", "id": "P10071", "url": "https://www.uniprot.org/uniprot/P10071" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 1048, "end_pos": 1050, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1072, "end_pos": 1074, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1302, "end_pos": 1304, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1438, "end_pos": 1440, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1530, "end_pos": 1532, "annotation": "n_glycosylation_sequon" }, { "start_pos": 322, "end_pos": 324, "annotation": "n_glycosylation_sequon" }, { "start_pos": 589, "end_pos": 591, "annotation": "n_glycosylation_sequon" }, { "start_pos": 598, "end_pos": 600, "annotation": "n_glycosylation_sequon" }, { "start_pos": 681, "end_pos": 683, "annotation": "n_glycosylation_sequon" }, { "start_pos": 722, "end_pos": 724, "annotation": "n_glycosylation_sequon" }, { "start_pos": 810, "end_pos": 812, "annotation": "n_glycosylation_sequon" }, { "start_pos": 815, "end_pos": 817, "annotation": "n_glycosylation_sequon" }, { "start_pos": 888, "end_pos": 890, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [ { "annotation": "Transcriptional repressor GLI3R, a C-terminally truncated form, is generated from the full-length GLI3 protein (GLI3FL/GLI3-190) through proteolytic processing. This process requires PKA-primed phosphorylation of GLI3, ubiquitination of GLI3 and the presence of BTRC. GLI3FL is complexed with SUFU in the cytoplasm and is maintained in a neutral state. Without the Hh signal, the SUFU-GLI3 complex is recruited to cilia, leading to the efficient processing of GLI3FL into GLI3R. GLI3R formation leads to its dissociation from SUFU, allowing it to translocate into the nucleus, and repress Hh target genes. When Hh signaling is initiated, SUFU dissociates from GLI3FL and this has two consequences. First, GLI3R production is halted. Second, free GLI3FL translocates to the nucleus, where it is phosphorylated, destabilized, and converted to a transcriptional activator (GLI3A). Phosphorylated in vitro by ULK3.", "evidence": [ { "database": "UniProtKB", "id": "P10071", "url": "https://www.uniprot.org/uniprot/P10071" }, { "database": "PubMed", "id": "16371461", "url": "https://glygen.org/publication/PubMed/16371461" }, { "database": "PubMed", "id": "16705181", "url": "https://glygen.org/publication/PubMed/16705181" } ] } ], "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": [ 78 ], "snv_sites": [ 28, 37, 43, 78, 182, 217, 275, 301, 312, 325, 326, 327, 331, 336, 347, 419, 653, 656, 680, 745, 818, 832, 848, 910, 1164, 1171, 1197, 1235, 1349, 1411, 1445, 1482, 1533 ], "glycation_sites": [], "phosphorylation_sites": [ 19, 343, 664, 669, 849, 865, 877, 907, 980, 1006 ], "sequon_annotation_sites": [ { "start_pos": 1048, "end_pos": 1050 }, { "start_pos": 1072, "end_pos": 1074 }, { "start_pos": 1302, "end_pos": 1304 }, { "start_pos": 1438, "end_pos": 1440 }, { "start_pos": 1530, "end_pos": 1532 }, { "start_pos": 322, "end_pos": 324 }, { "start_pos": 589, "end_pos": 591 }, { "start_pos": 598, "end_pos": 600 }, { "start_pos": 681, "end_pos": 683 }, { "start_pos": 722, "end_pos": 724 }, { "start_pos": 810, "end_pos": 812 }, { "start_pos": 815, "end_pos": 817 }, { "start_pos": 888, "end_pos": 890 } ] }, "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", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "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", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 16 }, { "field": "total_sites", "count": 10 } ], "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": 34 }, { "field": "total_sites", "count": 33 } ], "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": 18 }, { "field": "total_sites", "count": 18 } ], "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": 16 }, { "field": "total_sites", "count": 15 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 172 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }