{ "uniprot_canonical_ac": "O75665-1", "uniprot_ac": "O75665", "uniprot_id": "OFD1_HUMAN", "mass": { "chemical_mass": 116671.0, "monoisotopic_mass": 116671.0 }, "refseq": { "ac": "NP_001317138", "name": "centriole and centriolar satellite protein OFD1 isoform 2", "summary": "This gene is located on the X chromosome and encodes a centrosomal protein. A knockout mouse model has been used to study the effect of mutations in this gene. The mouse gene is also located on the X chromosome, however, unlike the human gene it is not subject to X inactivation. Mutations in this gene are associated with oral-facial-digital syndrome type I and Simpson-Golabi-Behmel syndrome type 2. Many pseudogenes have been identified; a single pseudogene is found on chromosome 5 while as many as fifteen have been found on the Y chromosome. [provided by RefSeq, Aug 2016].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317138" }, "gene_names": [ { "name": "OFD1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O75665", "id": "O75665" }, { "name": "71-7A; CXorf5; JBTS10; RP23; SGBS2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317138", "id": "NP_001317138" }, { "name": "CXorf5", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O75665", "id": "O75665" }, { "name": "OFD1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317138", "id": "NP_001317138" } ], "protein_names": [ { "name": "Centriole and centriolar satellite protein OFD1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O75665" }, { "name": "Oral-facial-digital syndrome 1 protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75665" }, { "name": "Protein 71-7A", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75665" }, { "name": "centriole and centriolar satellite protein OFD1 isoform 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317138", "id": "NP_001317138" }, { "name": "oral-facial-digital syndrome 1 protein; protein 71-7A; Joubert syndrome type 10; centriole and centriolar satellite protein OFD1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317138", "id": "NP_001317138" } ], "function": [ { "annotation": "A ciliopathy complex builds distal appendages to initiate ciliogenesis.", "evidence": [ { "database": "RefSeq", "id": "NP_001317138", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317138" }, { "database": "PubMed", "id": "34241634", "url": "https://glygen.org/publication/PubMed/34241634" } ] }, { "annotation": "Component of the centrioles controlling mother and daughter centrioles length. Recruits to the centriole IFT88 and centriole distal appendage-specific proteins including CEP164 (By similarity). Involved in the biogenesis of the cilium, a centriole-associated function. The cilium is a cell surface projection found in many vertebrate cells required to transduce signals important for development and tissue homeostasis (PubMed:33934390). Plays an important role in development by regulating Wnt signaling and the specification of the left-right axis. Only OFD1 localized at the centriolar satellites is removed by autophagy, which is an important step in the ciliogenesis regulation (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "O75665", "url": "https://www.uniprot.org/uniprot/O75665#function" }, { "database": "PubMed", "id": "33934390", "url": "https://glygen.org/publication/PubMed/33934390" }, { "database": "UniProtKB", "id": "Q80Z25", "url": "https://www.uniprot.org/uniprot/Q80Z25#function" } ] }, { "annotation": "Extraciliary OFD1 Is Involved in Melanocyte Survival through Cell Adhesion to ECM via Paxillin. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001317138", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317138" }, { "database": "PubMed", "id": "38139355", "url": "https://glygen.org/publication/PubMed/38139355" } ] }, { "annotation": "This gene is located on the X chromosome and encodes a centrosomal protein. A knockout mouse model has been used to study the effect of mutations in this gene. The mouse gene is also located on the X chromosome, however, unlike the human gene it is not subject to X inactivation. Mutations in this gene are associated with oral-facial-digital syndrome type I and Simpson-Golabi-Behmel syndrome type 2. Many pseudogenes have been identified; a single pseudogene is found on chromosome 5 while as many as fifteen have been found on the Y chromosome. [provided by RefSeq, Aug 2016].", "evidence": [ { "database": "RefSeq", "id": "NP_001317138", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317138" } ] } ], "disease": [ { "disease_id": "DOID:0060316", "recommended_name": { "id": "DOID:0060316", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060316", "name": "orofaciodigital syndrome I", "description": "An orofaciodigital syndrome that is characterized by malformations of the face, oral cavity, and digits, has_material_basis_in X-linked dominant inheritance of the OFD1 gene with lethality in males and is associated with polycystic kidney disease." }, "synonyms": [ { "id": "DOID:0060316", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060316", "name": "Papillon-Leage-Psaume syndrome", "description": "" }, { "id": "DOID:0060316", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060316", "name": "orofaciodigital syndrome 1", "description": "" }, { "id": "DOID:0060316", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060316", "name": "orofaciodigital syndrome type I", "description": "" }, { "id": "MONDO:0010702", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010702", "name": "orofaciodigital syndrome I", "description": "A rare neurodevelopmental disorder in the ciliopathy group that is lethal in males and characterized by variable anomalies including external malformations (craniofacial and digital), and possible involvement of the central nervous system (CNS) and of viscera (kidneys, pancreas and ovaries) in females." }, { "id": "MONDO:0010702", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010702", "name": "OFD syndrome 1", "description": "" }, { "id": "MONDO:0010702", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010702", "name": "OFD1", "description": "" }, { "id": "MONDO:0010702", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010702", "name": "OFDI", "description": "" }, { "id": "MONDO:0010702", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010702", "name": "OFDS 1", "description": "" }, { "id": "MONDO:0010702", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010702", "name": "OFDSI", "description": "" }, { "id": "MONDO:0010702", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010702", "name": "Papillon-Leage and Psaume syndrome", "description": "" }, { "id": "MONDO:0010702", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010702", "name": "Papillon-Leage-Psaume syndrome", "description": "" }, { "id": "MONDO:0010702", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010702", "name": "Papillon-Lage-Psaume syndrome", "description": "" }, { "id": "MONDO:0010702", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010702", "name": "Papillon-league-Psaume syndrome (formerly)", "description": "" }, { "id": "MONDO:0010702", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010702", "name": "oral facial digital syndrome 1", "description": "" }, { "id": "MONDO:0010702", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010702", "name": "oral facial digital syndrome type 1", "description": "" }, { "id": "MONDO:0010702", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010702", "name": "oral-facial-digital syndrome 1", "description": "" }, { "id": "MONDO:0010702", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010702", "name": "oral-facial-digital syndrome type 1", "description": "" }, { "id": "MONDO:0010702", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010702", "name": "oral-facial-digital syndrome, type 1", "description": "" }, { "id": "MONDO:0010702", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010702", "name": "orofaciodigital syndrome 1", "description": "" }, { "id": "MONDO:0010702", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010702", "name": "orofaciodigital syndrome I", "description": "" }, { "id": "MONDO:0010702", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010702", "name": "orofaciodigital syndrome i, X-linked dominant", "description": "" }, { "id": "MONDO:0010702", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010702", "name": "orofaciodigital syndrome type 1", "description": "" }, { "id": "MONDO:0010702", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010702", "name": "orofaciodigital syndrome type I", "description": "" }, { "id": "MIM:311200", "resource": "MIM", "url": "https://www.omim.org/entry/311200", "name": "Orofaciodigital syndrome 1", "description": "Orofaciodigital syndrome 1" } ], "evidence": [ { "id": "311200", "database": "MIM", "url": "https://www.omim.org/entry/311200" } ] }, { "disease_id": "DOID:0080342", "recommended_name": { "id": "DOID:0080342", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080342", "name": "Simpson-Golabi-Behmel syndrome type 2", "description": "A syndrome that has_material_basis_in mutation in the OFD1 gene on chromosome Xp22 and is characterized by developmental delay, macrocephaly, and respiratory problems." }, "synonyms": [ { "id": "MONDO:0010265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010265", "name": "Simpson-Golabi-Behmel syndrome type 2", "description": "Simpson-Golabi-Behmel syndrome (SGBS) type 2 is an extremely rare and severe, early-lethal form of SGBS, an overgrowth-multiple anomalies syndrome, characterized by hydrops fetalis, macrocephaly, facial dysmorphism (hypertelorism, low-set, posteriorly angulated ears, short and broad nose with anteverted nares, prominent philtrum, large mouth with thin upper vermilion border, high-arched and cleft palate), short neck, redundant skin, skeletal defects (involving upper and lower limbs), hypoplastic nails, gastrointestinal and genitourinary anomalies, hypotonia and neurologic impairment. Severe intellectual disability, obesity and infections (pneumonia, sepsis) have been reported." }, { "id": "MONDO:0010265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010265", "name": "OFD1 Simpson-Golabi-Behmel syndrome", "description": "" }, { "id": "MONDO:0010265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010265", "name": "SGBS2", "description": "" }, { "id": "MONDO:0010265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010265", "name": "Simpson-Golabi-Behmel syndrome caused by mutation in OFD1", "description": "" }, { "id": "MONDO:0010265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010265", "name": "Simpson-Golabi-Behmel syndrome, type 2, X-linked recessive", "description": "" }, { "id": "MONDO:0010265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010265", "name": "lethal variant of Simpson-Golabi-Behmel syndrome", "description": "" }, { "id": "MONDO:0010265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010265", "name": "Sgbs2", "description": "" }, { "id": "MONDO:0010265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010265", "name": "Simpson-Golabi-Behmel syndrome, type 2", "description": "" }, { "id": "MIM:300209", "resource": "MIM", "url": "https://www.omim.org/entry/300209", "name": "Simpson-Golabi-Behmel syndrome 2", "description": "Simpson-Golabi-Behmel syndrome 2" } ], "evidence": [ { "id": "300209", "database": "MIM", "url": "https://www.omim.org/entry/300209" } ] }, { "disease_id": "DOID:0110412", "recommended_name": { "id": "DOID:0110412", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110412", "name": "retinitis pigmentosa 23", "description": "A retinitis pigmentosa that has_material_basis_in mutation in the OFD1 gene on chromosome Xp22." }, "synonyms": [ { "id": "DOID:0110412", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110412", "name": "RP23", "description": "" }, { "id": "MONDO:0010320", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010320", "name": "retinitis pigmentosa 23", "description": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the OFD1 gene." }, { "id": "MONDO:0010320", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010320", "name": "OFD1 retinitis pigmentosa", "description": "" }, { "id": "MONDO:0010320", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010320", "name": "RP23", "description": "" }, { "id": "MONDO:0010320", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010320", "name": "retinitis pigmentosa 23", "description": "" }, { "id": "MONDO:0010320", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010320", "name": "retinitis pigmentosa 23, X-linked recessive", "description": "" }, { "id": "MONDO:0010320", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010320", "name": "retinitis pigmentosa caused by mutation in OFD1", "description": "" }, { "id": "MONDO:0010320", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010320", "name": "retinitis pigmentosa type 23", "description": "" }, { "id": "MONDO:0010320", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010320", "name": "RP 23", "description": "" }, { "id": "MIM:300424", "resource": "MIM", "url": "https://www.omim.org/entry/300424", "name": "Retinitis pigmentosa 23", "description": "Retinitis pigmentosa 23" } ], "evidence": [ { "id": "300424", "database": "MIM", "url": "https://www.omim.org/entry/300424" } ] }, { "disease_id": "DOID:0110981", "recommended_name": { "id": "DOID:0110981", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110981", "name": "Joubert syndrome 10", "description": "A Joubert syndrome that has_material_basis_in X-linked recessive inheritance of mutation in the OFD1 gene on chromosome Xp22.2." }, "synonyms": [ { "id": "DOID:0110981", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110981", "name": "JBTS10", "description": "" }, { "id": "MONDO:0010431", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010431", "name": "Joubert syndrome 10", "description": "Any Joubert syndrome in which the cause of the disease is a mutation in the OFD1 gene." }, { "id": "MONDO:0010431", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010431", "name": "JBTS10", "description": "" }, { "id": "MONDO:0010431", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010431", "name": "Joubert syndrome 10", "description": "" }, { "id": "MONDO:0010431", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010431", "name": "Joubert syndrome 10, X-linked recessive", "description": "" }, { "id": "MONDO:0010431", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010431", "name": "Joubert syndrome caused by mutation in OFD1", "description": "" }, { "id": "MONDO:0010431", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010431", "name": "Joubert syndrome type 10", "description": "" }, { "id": "MONDO:0010431", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010431", "name": "OFD1 Joubert syndrome", "description": "" }, { "id": "MIM:300804", "resource": "MIM", "url": "https://www.omim.org/entry/300804", "name": "Joubert syndrome 10", "description": "Joubert syndrome 10" } ], "evidence": [ { "id": "300804", "database": "MIM", "url": "https://www.omim.org/entry/300804" } ] } ], "snv": [ { "evidence": [ { "id": "O75665", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O75665" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 165, "end_pos": 165, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "L", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3). In dbSNP: rs756793358.", "chr_id": "X", "chr_pos": "13744496", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S165", "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: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" ] } ], "mutagenesis": [ { "start_pos": 735, "end_pos": 735, "sequence_org": "S", "sequence_mut": "A", "comment": "Loss of phosphorylation by PKA. Loss of cAMP-dependent interaction with TBC1D31. Loss of ubiquitin-mediated proteasomal degradation. Loss of function in cilium assembly. Dominant negative effect.", "evidence": [ { "database": "UniProtKB", "id": "O75665", "url": "https://www.uniprot.org/uniprot/O75665" }, { "database": "PubMed", "id": "33934390", "url": "https://glygen.org/publication/PubMed/33934390" } ] }, { "start_pos": 97, "end_pos": 97, "sequence_org": "E", "sequence_mut": "G", "comment": "Increased protein stability.", "evidence": [ { "database": "UniProtKB", "id": "O75665", "url": "https://www.uniprot.org/uniprot/O75665" }, { "database": "PubMed", "id": "33934390", "url": "https://glygen.org/publication/PubMed/33934390" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "89.14", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000046651", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000046651" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "91.1", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000046651", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000046651" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "82.4", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000046651", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000046651" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "78.28", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000046651", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000046651" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "89.43", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000046651", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000046651" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "90.08", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000046651", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000046651" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "68.2", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000046651", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000046651" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "89.94", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000046651", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000046651" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "94.82", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000046651", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000046651" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "73.39", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000046651", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000046651" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "86.45", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000046651", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000046651" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "94.85", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000046651", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000046651" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "94.4", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000046651", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000046651" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O75665", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75665" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O75665", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75665" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O75665", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75665" } ], "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": "No", "trend": "down", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "O75665", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75665" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "O75665", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75665" } ], "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": "down", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "O75665", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75665" } ], "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": "No", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O75665", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75665" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "O75665", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75665" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "O75665", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75665" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "O75665", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75665" } ], "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": "down", "name": "Esophageal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "O75665", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75665" } ], "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Aerodigestive tract cancer, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Escc, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "gastric cardia adenocarcinoma, susceptibility to", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Colorectal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:9256", "evidence": [ { "database": "BioXpress", "id": "O75665", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75665" } ], "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": "O75665", "url": "https://www.uniprot.org/uniprot/O75665" } ], "common_name": "Human" } ], "gene": [ { "name": "OFD1", "url": "https://www.uniprot.org/uniprot/O75665", "locus": { "chromosome": "X", "start_pos": 13777955, "end_pos": 13734743, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000046651", "url": "https://www.ensembl.org/id/ENSG00000046651" } ] } } ], "crossref": [ { "id": "ENSG00000046651", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000046651", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "O75665", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O75665", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "OFD1", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=OFD1", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "8481", "url": "https://www.ncbi.nlm.nih.gov/gene/8481", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "2567", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=2567", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "O75665", "url": "https://www.ebi.ac.uk/intact/interactors/id:O75665*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR006594", "url": "https://www.ebi.ac.uk/interpro/entry/IPR006594", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:8481", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:8481", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "300170", "url": "http://www.omim.org/entry/300170", "database": "MIM", "categories": [ "Other" ] }, { "id": "300209", "url": "http://www.omim.org/entry/300209", "database": "MIM", "categories": [ "Other" ] }, { "id": "300424", "url": "http://www.omim.org/entry/300424", "database": "MIM", "categories": [ "Other" ] }, { "id": "300804", "url": "http://www.omim.org/entry/300804", "database": "MIM", "categories": [ "Other" ] }, { "id": "311200", "url": "http://www.omim.org/entry/311200", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O75665", "url": "https://www.nextprot.org/entry/NX_O75665", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "O75665", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O75665", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "EVMRTRE", "url": "https://omabrowser.org/oma/group/EVMRTRE/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "5398410at2759", "url": "http://www.orthodb.org/?query=5398410at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR39063", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR39063", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR39063:SF1", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR39063:SF1", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF16045", "url": "http://pfam.xfam.org/family/PF16045", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O75665", "url": "https://pharos.nih.gov/targets/O75665", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O75665", "url": "http://purl.obolibrary.org/obo/PR_O75665", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-2565942", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2565942", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-380259", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-380259", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-380270", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-380270", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-380284", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-380284", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-380320", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-380320", "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-5620912", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620912", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-8854518", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8854518", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_001317138", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317138", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "A0A804HHU8", "url": "https://www.uniprot.org/uniprot/A0A804HHU8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A804HHU8-1", "url": "https://www.uniprot.org/uniprot/A0A804HHU8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A804HIZ6", "url": "https://www.uniprot.org/uniprot/A0A804HIZ6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A804HIZ6-1", "url": "https://www.uniprot.org/uniprot/A0A804HIZ6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A804HK70", "url": "https://www.uniprot.org/uniprot/A0A804HK70", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A804HK70-1", "url": "https://www.uniprot.org/uniprot/A0A804HK70-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A804HK98", "url": "https://www.uniprot.org/uniprot/A0A804HK98", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A804HK98-1", "url": "https://www.uniprot.org/uniprot/A0A804HK98-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A804HKD3", "url": "https://www.uniprot.org/uniprot/A0A804HKD3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A804HKD3-1", "url": "https://www.uniprot.org/uniprot/A0A804HKD3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A804HL42", "url": "https://www.uniprot.org/uniprot/A0A804HL42", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A804HL42-1", "url": "https://www.uniprot.org/uniprot/A0A804HL42-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A6NF31", "url": "https://www.uniprot.org/uniprot/A6NF31", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A6NF31-1", "url": "https://www.uniprot.org/uniprot/A6NF31-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75665", "url": "https://www.uniprot.org/uniprot/O75665", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75665-1", "url": "https://www.uniprot.org/uniprot/O75665-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75665-2", "url": "https://www.uniprot.org/uniprot/O75665-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75665-3", "url": "https://www.uniprot.org/uniprot/O75665-3", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MMAQSNMFTVADVLSQDELRKKLYQTFKDRGILDTLKTQLRNQLIHELMHPVLSGELQPRSISVEGSSLLIGASNSLVADHLQRCGYEYSLSVFFPESGLAKEKVFTMQDLLQLIKINPTSSLYKSLVSGSDKENQKGFLMHFLKELAEYHQAKESCNMETQTSSTFNRDSLAEKLQLIDDQFADAYPQRIKFESLEIKLNEYKREIEEQLRAEMCQKLKFFKDTEIAKIKMEAKKKYEKELTMFQNDFEKACQAKSEALVLREKSTLERIHKHQEIETKEIYAQRQLLLKDMDLLRGREAELKQRVEAFELNQKLQEEKHKSITEALRRQEQNIKSFEETYDRKLKNELLKYQLELKDDYIIRTNRLIEDERKNKEKAVHLQEELIAINSKKEELNQSVNRVKELELELESVKAQSLAITKQNHMLNEKVKEMSDYSLLKEEKLELLAQNKLLKQQLEESRNENLRLLNRLAQPAPELAVFQKELRKAEKAIVVEHEEFESCRQALHKQLQDEIEHSAQLKAQILGYKASVKSLTTQVADLKLQLKQTQTALENEVYCNPKQSVIDRSVNGLINGNVVPCNGEISGDFLNNPFKQENVLARMVASRITNYPTAWVEGSSPDSDLEFVANTKARVKELQQEAERLEKAFRSYHRRVIKNSAKSPLAAKSPPSLHLLEAFKNITSSSPERHIFGEDRVVSEQPQVGTLEERNDVVEALTGSAASRLRGGTSSRRLSSTPLPKAKRSLESEMYLEGLGRSHIASPSPCPDRMPLPSPTESRHSLSIPPVSSPPEQKVGLYRRQTELQDKSEFSDVDKLAFKDNEEFESSFESAGNMPRQLEMGGLSPAGDMSHVDAAAAAVPLSYQHPSVDQKQIEEQKEEEKIREQQVKERRQREERRQSNLQEVLERERRELEKLYQERKMIEESLKIKIKKELEMENELEMSNQEIKDKSAHSENPLEKYMKIIQQEQDQESADKSSKKMVQEGSLVDTLQSSDKVESLTGFSHEELDDSW", "length": 1012, "header": "sp|O75665-1|OFD1_HUMAN Isoform 1 of Centriole and centriolar satellite protein OFD1 OS=Homo sapiens OX=9606 GN=OFD1 PE=1 SV=1 CANONICAL=O75665-1" }, "isoforms": [ { "isoform_ac": "A0A804HHU8-1", "url": "", "sequence": { "sequence": "MMAQSNMFTVADVLSQDELRKKLYQTFKDRGILDTLKTQLRNQLIHELMHPVLSGELQPRSISVEGSSLLIGASNSLVADHLQRCGYEYSLSVFFPESGLAKEKVFTMQDLLQLIKINPTSSLYKSLVSGSDKENQKGFLMHFLKELAEYHQAKESCNMETQTSSTFNRDSLVEETEVLRGRATWKHSVCIRTNSGVQVLPSMIWSFLYYPAGLQYHPVCQFRAQ", "length": 225, "header": "tr|A0A804HHU8-1|OFD1_HUMAN Computationally mapped isoform of Centriole and centriolar satellite protein OFD1 OS=Homo sapiens OX=9606 GN=OFD1 PE=1 SV=1 CANONICAL=O75665-1" }, "locus": { "chromosome": "X", "start_pos": 13745069, "end_pos": 13735072, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000683655.1", "url": "https://www.ensembl.org/id/ENST00000683655.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000506770.1", "url": "https://www.ensembl.org/id/ENSP00000506770.1" } ] } }, { "isoform_ac": "A0A804HIZ6-1", "url": "", "sequence": { "sequence": "MMAQSNMFTVADVLSQDELRKKLYQTFKDRGILDTLKTQLRNQLIHELMHPVLSGELQPRSISVEGSSLLIGASNSLVADHLQRCGYEYSLSVFFPESGLAKEKVFTMQDLLQLIKINPTSSLYKSLVSGSDKENQKGFLMHFLKELAEYHQAKESCNMETQTSSTFNRDSLAEKLQLIDDQFADAYPQRIKFESLEIKLNEYKREIEEQLRAEMCQKLKFFKDTEIAKIKMEAKKKYEKELTMFQNDFEKACQAKSEALVLREKSTLERIHKHQEIETKEIYAQRQLLLKDMDLLRGREAELKQRVEAFEFLN", "length": 314, "header": "tr|A0A804HIZ6-1|A0A804HIZ6_HUMAN Computationally mapped isoform of OFD1 centriole and centriolar satellite protein OS=Homo sapiens OX=9606 GN=OFD1 PE=1 SV=1 CANONICAL=O75665-1" }, "locus": { "chromosome": "X", "start_pos": 13756584, "end_pos": 13735072, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000683427.1", "url": "https://www.ensembl.org/id/ENST00000683427.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000507290.1", "url": "https://www.ensembl.org/id/ENSP00000507290.1" } ] } }, { "isoform_ac": "A0A804HK70-1", "url": "", "sequence": { "sequence": "MMAQSNMFTVADVLSQDELRKKLYQTFKDRGILDTLKTQLRNQLIHELMHPVLSGELQPRSISVEGSSLLIGASNSLVADHLQRCGYEYSLSVFFPESGLAKEKVFLCIF", "length": 110, "header": "tr|A0A804HK70-1|OFD1_HUMAN Computationally mapped isoform of Centriole and centriolar satellite protein OFD1 OS=Homo sapiens OX=9606 GN=OFD1 PE=1 SV=1 CANONICAL=O75665-1" }, "locus": { "chromosome": "X", "start_pos": 13744432, "end_pos": 13735072, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000683713.1", "url": "https://www.ensembl.org/id/ENST00000683713.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000507797.1", "url": "https://www.ensembl.org/id/ENSP00000507797.1" } ] } }, { "isoform_ac": "A0A804HK98-1", "url": "", "sequence": { "sequence": "MMAQSNMFTVADVLSQDELRKKLYQTFKDRGILDTLKKVVWQKKRYLLCRIYYNSLKSTLLPVSTNHWFQDLIKKIKKVFLCIF", "length": 84, "header": "tr|A0A804HK98-1|OFD1_HUMAN Computationally mapped isoform of Centriole and centriolar satellite protein OFD1 OS=Homo sapiens OX=9606 GN=OFD1 PE=1 SV=1 CANONICAL=O75665-1" }, "locus": { "chromosome": "X", "start_pos": 13744432, "end_pos": 13735072, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000683284.1", "url": "https://www.ensembl.org/id/ENST00000683284.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000507837.1", "url": "https://www.ensembl.org/id/ENSP00000507837.1" } ] } }, { "isoform_ac": "A0A804HKD3-1", "url": "", "sequence": { "sequence": "MMAQSNMFTVADVLSQDELRKKLYQTFKDRGILDTLKSTEV", "length": 41, "header": "tr|A0A804HKD3-1|A0A804HKD3_HUMAN Computationally mapped isoform of OFD1 centriole and centriolar satellite protein OS=Homo sapiens OX=9606 GN=OFD1 PE=4 SV=1 CANONICAL=O75665-1" }, "locus": { "chromosome": "X", "start_pos": 13736119, "end_pos": 13735072, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000682953.1", "url": "https://www.ensembl.org/id/ENST00000682953.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000507878.1", "url": "https://www.ensembl.org/id/ENSP00000507878.1" } ] } }, { "isoform_ac": "A0A804HL42-1", "url": "", "sequence": { "sequence": "MMAQSNMFTVADVLSQDELRKKLYQTFKDRGILDTLKTQLRNQLIHELMHPVLSGELQPRSISVEGSSLLIGASNSLVADHLQRCGYEYSLSVFFPESGLAKEKVFTMQDLLQLIKINPTSSLYKSLVSGSDKENQKAEKLQLIDDQFADAYPQRIKFESLEIKLNEYKREIEEQLRAEMCQKLKFFKDTEIAKIKMEAKKKYEKELTMFQNDFEKACQAKSEALVLREKSTLERIHKHQEIETKEIYAQRQLLLKDMDLLRGREAELKQRVEAFEFLN", "length": 279, "header": "tr|A0A804HL42-1|A0A804HL42_HUMAN Computationally mapped isoform of OFD1 centriole and centriolar satellite protein OS=Homo sapiens OX=9606 GN=OFD1 PE=1 SV=1 CANONICAL=O75665-1" }, "locus": { "chromosome": "X", "start_pos": 13756584, "end_pos": 13735072, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000683055.1", "url": "https://www.ensembl.org/id/ENST00000683055.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000508191.1", "url": "https://www.ensembl.org/id/ENSP00000508191.1" } ] } }, { "isoform_ac": "A6NF31-1", "url": "", "sequence": { "sequence": "MMAQSNMFTVADVLSQDELRKKLYQTFKDRGILDTLKTQLRNQLIHELMHPVLSGELQPRSISVEGSSLLIGASNSLVADHLQRCGYEYSLSVFFPESGLAKEKVFTMQDLLQLIKINPTSSLYKSLVSGSDKENQKAIKSVT", "length": 143, "header": "tr|A6NF31-1|A6NF31_HUMAN Computationally mapped isoform of OFD1 centriole and centriolar satellite protein OS=Homo sapiens OX=9606 GN=OFD1 PE=1 SV=2 CANONICAL=O75665-1" }, "locus": { "chromosome": "X", "start_pos": 13740105, "end_pos": 13735072, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000684577.1", "url": "https://www.ensembl.org/id/ENST00000684577.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000507871.1", "url": "https://www.ensembl.org/id/ENSP00000507871.1" } ] } }, { "isoform_ac": "O75665-1", "url": "", "sequence": { "sequence": "MMAQSNMFTVADVLSQDELRKKLYQTFKDRGILDTLKTQLRNQLIHELMHPVLSGELQPRSISVEGSSLLIGASNSLVADHLQRCGYEYSLSVFFPESGLAKEKVFTMQDLLQLIKINPTSSLYKSLVSGSDKENQKGFLMHFLKELAEYHQAKESCNMETQTSSTFNRDSLAEKLQLIDDQFADAYPQRIKFESLEIKLNEYKREIEEQLRAEMCQKLKFFKDTEIAKIKMEAKKKYEKELTMFQNDFEKACQAKSEALVLREKSTLERIHKHQEIETKEIYAQRQLLLKDMDLLRGREAELKQRVEAFELNQKLQEEKHKSITEALRRQEQNIKSFEETYDRKLKNELLKYQLELKDDYIIRTNRLIEDERKNKEKAVHLQEELIAINSKKEELNQSVNRVKELELELESVKAQSLAITKQNHMLNEKVKEMSDYSLLKEEKLELLAQNKLLKQQLEESRNENLRLLNRLAQPAPELAVFQKELRKAEKAIVVEHEEFESCRQALHKQLQDEIEHSAQLKAQILGYKASVKSLTTQVADLKLQLKQTQTALENEVYCNPKQSVIDRSVNGLINGNVVPCNGEISGDFLNNPFKQENVLARMVASRITNYPTAWVEGSSPDSDLEFVANTKARVKELQQEAERLEKAFRSYHRRVIKNSAKSPLAAKSPPSLHLLEAFKNITSSSPERHIFGEDRVVSEQPQVGTLEERNDVVEALTGSAASRLRGGTSSRRLSSTPLPKAKRSLESEMYLEGLGRSHIASPSPCPDRMPLPSPTESRHSLSIPPVSSPPEQKVGLYRRQTELQDKSEFSDVDKLAFKDNEEFESSFESAGNMPRQLEMGGLSPAGDMSHVDAAAAAVPLSYQHPSVDQKQIEEQKEEEKIREQQVKERRQREERRQSNLQEVLERERRELEKLYQERKMIEESLKIKIKKELEMENELEMSNQEIKDKSAHSENPLEKYMKIIQQEQDQESADKSSKKMVQEGSLVDTLQSSDKVESLTGFSHEELDDSW", "length": 1012, "header": "sp|O75665-1|OFD1_HUMAN Isoform 1 of Centriole and centriolar satellite protein OFD1 OS=Homo sapiens OX=9606 GN=OFD1 PE=1 SV=1 CANONICAL=O75665-1" }, "locus": { "chromosome": "X", "start_pos": 13769105, "end_pos": 13735072, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000340096.11", "url": "https://www.ensembl.org/id/ENST00000340096.11" }, { "database": "Ensembl Peptide", "id": "ENSP00000344314.6", "url": "https://www.ensembl.org/id/ENSP00000344314.6" } ] } }, { "isoform_ac": "O75665-2", "url": "", "sequence": { "sequence": "MMAQSNMFTVADVLSQDELRKKLYQTFKDRGILDTLKTQLRNQLIHELMHPVLSGELQPRSISVEGSSLLIGASNSLVADHLQRCGYEYSLSVFFPESGLAKEKVFTMQDLLQLIKINPTSSLYKSLVSGSDKENQKGFLMHFLKELAEYHQAKESCNMETQTSSTFNRDSLAEKLQLIDDQFADAYPQRIKFESLEIKLNEYKREIEEQLRAEMCQKLKFFKDTEIAKIKMEAKKKYEKELTMFQNDFEKACQAKSEALVLREKSTLERIHKHQEIETKEIYAQRQLLLKDMDLLRGREAELKQRVEAFELNQKLQEEKHKSITEALRRQEQNIKSFEETYDRKLKNELLNFHRLHGVCLALGILI", "length": 367, "header": "sp|O75665-2|OFD1_HUMAN Isoform 2 of Centriole and centriolar satellite protein OFD1 OS=Homo sapiens OX=9606 GN=OFD1 PE=1 SV=1 CANONICAL=O75665-1" }, "locus": { "chromosome": "X", "start_pos": 13752749, "end_pos": 13735072, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000682237.1", "url": "https://www.ensembl.org/id/ENST00000682237.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000507121.1", "url": "https://www.ensembl.org/id/ENSP00000507121.1" } ] } }, { "isoform_ac": "O75665-3", "url": "", "sequence": { "sequence": "MMAQSNMFTVADVLSQDELRKKLYQTFKDRGILDTLKTQLRNQLIHELMHPVLSGELQPRSISVEGSSLLIGASNSLVADHLQRCGYEYSLSVFFPESGLAKEKVFTMQDLLQLIKINPTSSLYKSLVSGSDKENQKGFLMHFLKELAEYHQAKESCNMETQTSSTFNRDSLAEKLQLIDDQFADAYPQRIKFESLEIKLNEYKREIEEQLRAEMCQKLKFFKDTEIAKIKMEAKKKYEKELTMFQNDFEKACQAKSEALVLREKSTLERIHKHQEIETKEIYAQRQLLLKDMDLLRGREAELKQRVEAFELYQLELKDDYIIRTNRLIEDERKNKEKAVHLQEELIAINSKKEELNQSVNRVKELELELESVKAQSLAITKQNHMLNEKVKEMSDYSLLKEEKLELLAQNKLLKQQLEESRNENLRLLNRLAQPAPELAVFQKELRKAEKAIVVEHEEFESCRQALHKQLQDEIEHSAQLKAQILGYKASVKSLTTQVADLKLQLKQTQTALENEVYCNPKQSVIDRSVNGLINGNVVPCNGEISGDFLNNPFKQENVLARMVASRITNYPTAWVEGSSPDSDLEFVANTKARVKELQQEAERLEKAFRSYHRRVIKNSAKSPLAAKSPPSLHLLEAFKNITSSSPERHIFGEDRVVSEQPQVGTLEERNDVVEALTGSAASRLRGGTSSRRLSSTPLPKAKRSLESEMYLEGLGRSHIASPSPCPDRMPLPSPTESRHSLSIPPVSSPPEQKVGLYRRQTELQDKSEFSDVDKLAFKDNEEFESSFESAGNMPRQLEMGGLSPAGDMSHVDAAAAAVPLSYQHPSVDQKQIEEQKEEEKIREQQVKERRQREERRQSNLQEVLERERRELEKLYQERKMIEESLKIKIKKELEMENELEMSNQEIKDKSAHSENPLEKYMKIIQQEQDQESADKSSKKMVQEGSLVDTLQSSDKVESLTGFSHEELDDSW", "length": 972, "header": "sp|O75665-3|OFD1_HUMAN Isoform 3 of Centriole and centriolar satellite protein OFD1 OS=Homo sapiens OX=9606 GN=OFD1 PE=1 SV=1 CANONICAL=O75665-1" }, "locus": { "chromosome": "X", "start_pos": 13769105, "end_pos": 13735072, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000380550.6", "url": "https://www.ensembl.org/id/ENST00000380550.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000369923.3", "url": "https://www.ensembl.org/id/ENSP00000369923.3" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "O75665", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O75665" }, { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" } ] } ], "phosphorylation": [ { "start_pos": 171, "end_pos": 171, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O75665", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75665" }, { "database": "PubMed", "id": "18491316", "url": "https://glygen.org/publication/PubMed/18491316" } ], "site_lbl": "Ser171" }, { "start_pos": 663, "end_pos": 663, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O75665", "url": "https://www.uniprot.org/uniprot/O75665" }, { "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": "O75665", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75665" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser663" }, { "start_pos": 669, "end_pos": 669, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O75665", "url": "https://www.uniprot.org/uniprot/O75665" }, { "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": "O75665", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75665" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "phospho.ELM", "id": "O75665", "url": "http://phospho.elm.eu.org/byAccession/O75665.html" } ], "site_lbl": "Ser669" }, { "start_pos": 686, "end_pos": 686, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O75665", "url": "https://www.uniprot.org/uniprot/O75665" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "O75665", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75665" }, { "database": "phospho.ELM", "id": "O75665", "url": "http://phospho.elm.eu.org/byAccession/O75665.html" } ], "site_lbl": "Ser686" }, { "start_pos": 720, "end_pos": 720, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O75665", "url": "https://www.uniprot.org/uniprot/O75665" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "O75665", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75665" }, { "database": "PubMed", "id": "19691289", "url": "https://glygen.org/publication/PubMed/19691289" } ], "site_lbl": "Ser720" }, { "start_pos": 735, "end_pos": 735, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine; by PKA", "evidence": [ { "database": "UniProtKB", "id": "O75665", "url": "https://www.uniprot.org/uniprot/O75665" }, { "database": "iPTMnet", "id": "O75665", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75665" }, { "database": "PubMed", "id": "19691289", "url": "https://glygen.org/publication/PubMed/19691289" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "PubMed", "id": "33934390", "url": "https://glygen.org/publication/PubMed/33934390" } ], "site_lbl": "Ser735" }, { "start_pos": 736, "end_pos": 736, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O75665", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75665" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser736" }, { "start_pos": 745, "end_pos": 745, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O75665", "url": "https://www.uniprot.org/uniprot/O75665" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "O75665", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75665" } ], "site_lbl": "Ser745" }, { "start_pos": 774, "end_pos": 774, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O75665", "url": "https://www.uniprot.org/uniprot/O75665" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "O75665", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75665" }, { "database": "PubMed", "id": "19691289", "url": "https://glygen.org/publication/PubMed/19691289" } ], "site_lbl": "Ser774" }, { "start_pos": 776, "end_pos": 776, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O75665", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75665" }, { "database": "PubMed", "id": "19691289", "url": "https://glygen.org/publication/PubMed/19691289" } ], "site_lbl": "Thr776" }, { "start_pos": 789, "end_pos": 789, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O75665", "url": "https://www.uniprot.org/uniprot/O75665" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "O75665", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75665" } ], "site_lbl": "Ser789" }, { "start_pos": 811, "end_pos": 811, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O75665", "url": "https://www.uniprot.org/uniprot/O75665" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "O75665", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75665" }, { "database": "PubMed", "id": "27920218", "url": "" } ], "site_lbl": "Ser811" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "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-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "10966113", "url": "https://glygen.org/publication/PubMed/10966113" } ] }, { "title": "The centrosomal protein C-Nap1 is required for cell cycle-regulated centrosome cohesion.", "journal": "The Journal of cell biology", "date": "2000", "authors": "Mayor T, Stierhof YD, Tanaka K, Fry AM, Nigg EA", "evidence": [ { "database": "Reactome", "id": "R-HSA-380284", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-380284" } ], "reference": [ { "type": "PubMed", "id": "11076968", "url": "https://glygen.org/publication/PubMed/11076968" } ] }, { "title": "Identification of the gene for oral-facial-digital type I syndrome.", "journal": "American journal of human genetics", "date": "2001", "authors": "Ferrante MI, Giorgio G, Feather SA, Bulfone A, Wright V, Ghiani M, Selicorni A, Gammaro L, Scolari F, Woolf AS, Sylvie O, Bernard L, Malcolm S, Winter R, Ballabio A, Franco B", "evidence": [ { "database": "UniProtKB", "id": "O75665", "url": "https://www.uniprot.org/uniprot/O75665" } ], "reference": [ { "type": "PubMed", "id": "11179005", "url": "https://glygen.org/publication/PubMed/11179005" } ] }, { "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": "Four novel mutations in the OFD1 (Cxorf5) gene in Finnish patients with oral-facial-digital syndrome 1.", "journal": "Journal of medical genetics", "date": "2002", "authors": "Rakkolainen A, Ala-Mello S, Kristo P, Orpana A, Jarvela I", "evidence": [ { "database": "UniProtKB", "id": "O75665", "url": "https://www.uniprot.org/uniprot/O75665" } ], "reference": [ { "type": "PubMed", "id": "11950863", "url": "https://glygen.org/publication/PubMed/11950863" } ] }, { "title": "Direct binding of NuMA to tubulin is mediated by a novel sequence motif in the tail domain that bundles and stabilizes microtubules.", "journal": "Journal of cell science", "date": "2002", "authors": "Haren L, Merdes A", "evidence": [ { "database": "Reactome", "id": "R-HSA-380320", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-380320" } ], "reference": [ { "type": "PubMed", "id": "11956313", "url": "https://glygen.org/publication/PubMed/11956313" } ] }, { "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": "Phosphorylation of threonine 210 and the role of serine 137 in the regulation of mammalian polo-like kinase.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Jang YJ, Ma S, Terada Y, Erikson RL", "evidence": [ { "database": "Reactome", "id": "R-HSA-2565942", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2565942" } ], "reference": [ { "type": "PubMed", "id": "12207013", "url": "https://glygen.org/publication/PubMed/12207013" } ] }, { "title": "Centrosomal proteins CG-NAP and kendrin provide microtubule nucleation sites by anchoring gamma-tubulin ring complex.", "journal": "Molecular biology of the cell", "date": "2002", "authors": "Takahashi M, Yamagiwa A, Nishimura T, Mukai H, Ono Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-380270", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-380270" } ], "reference": [ { "type": "PubMed", "id": "12221128", "url": "https://glygen.org/publication/PubMed/12221128" } ] }, { "title": "Nuclear translocation of plk1 mediated by its bipartite nuclear localization signal.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Taniguchi E, Toyoshima-Morimoto F, Nishida E", "evidence": [ { "database": "Reactome", "id": "R-HSA-2565942", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2565942" } ], "reference": [ { "type": "PubMed", "id": "12364337", "url": "https://glygen.org/publication/PubMed/12364337" } ] }, { "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": "OFD1, the gene mutated in oral-facial-digital syndrome type 1, is expressed in the metanephros and in human embryonic renal mesenchymal cells.", "journal": "Journal of the American Society of Nephrology : JASN", "date": "2003", "authors": "Romio L, Wright V, Price K, Winyard PJ, Donnai D, Porteous ME, Franco B, Giorgio G, Malcolm S, Woolf AS, Feather SA", "evidence": [ { "database": "UniProtKB", "id": "O75665", "url": "https://www.uniprot.org/uniprot/O75665" } ], "reference": [ { "type": "PubMed", "id": "12595504", "url": "https://glygen.org/publication/PubMed/12595504" } ] }, { "title": "Polo-like kinase 1 regulates Nlp, a centrosome protein involved in microtubule nucleation.", "journal": "Developmental cell", "date": "2003", "authors": "Casenghi M, Meraldi P, Weinhart U, Duncan PI, Korner R, Nigg EA", "evidence": [ { "database": "Reactome", "id": "R-HSA-380259", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-380259" } ], "reference": [ { "type": "PubMed", "id": "12852856", "url": "https://glygen.org/publication/PubMed/12852856" } ] }, { "title": "Aurora-A and an interacting activator, the LIM protein Ajuba, are required for mitotic commitment in human cells.", "journal": "Cell", "date": "2003", "authors": "Hirota T, Kunitoku N, Sasayama T, Marumoto T, Zhang D, Nitta M, Hatakeyama K, Saya H", "evidence": [ { "database": "Reactome", "id": "R-HSA-2565942", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2565942" } ], "reference": [ { "type": "PubMed", "id": "13678582", "url": "https://glygen.org/publication/PubMed/13678582" } ] }, { "title": "Structural basis of Aurora-A activation by TPX2 at the mitotic spindle.", "journal": "Molecular cell", "date": "2003", "authors": "Bayliss R, Sardon T, Vernos I, Conti E", "evidence": [ { "database": "Reactome", "id": "R-HSA-8854518", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8854518" } ], "reference": [ { "type": "PubMed", "id": "14580337", "url": "https://glygen.org/publication/PubMed/14580337" } ] }, { "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": "Proteomic characterization of the human centrosome by protein correlation profiling.", "journal": "Nature", "date": "2003", "authors": "Andersen Jens S, Wilkinson Christopher J, Mayor Thibault, Mortensen Peter, Nigg Erich A, Mann Matthias", "evidence": [ { "database": "UniProtKB", "id": "O75665", "url": "https://www.uniprot.org/uniprot/O75665" } ], "reference": [ { "type": "PubMed", "id": "14654843", "url": "https://glygen.org/publication/PubMed/14654843" } ] }, { "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-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "15087129", "url": "https://glygen.org/publication/PubMed/15087129" } ] }, { "title": "XRHAMM functions in ran-dependent microtubule nucleation and pole formation during anastral spindle assembly.", "journal": "Current biology : CB", "date": "2004", "authors": "Groen AC, Cameron LA, Coughlin M, Miyamoto DT, Mitchison TJ, Ohi R", "evidence": [ { "database": "Reactome", "id": "R-HSA-8854518", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8854518" } ], "reference": [ { "type": "PubMed", "id": "15498487", "url": "https://glygen.org/publication/PubMed/15498487" } ] }, { "title": "Receptor for hyaluronan-mediated motility correlates with centrosome abnormalities in multiple myeloma and maintains mitotic integrity.", "journal": "Cancer research", "date": "2005", "authors": "Maxwell CA, Keats JJ, Belch AR, Pilarski LM, Reiman T", "evidence": [ { "database": "Reactome", "id": "R-HSA-8854518", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8854518" } ], "reference": [ { "type": "PubMed", "id": "15705883", "url": "https://glygen.org/publication/PubMed/15705883" } ] }, { "title": "Mouse intraflagellar transport proteins regulate both the activator and repressor functions of Gli transcription factors.", "journal": "Development (Cambridge, England)", "date": "2005", "authors": "Liu A, Wang B, Niswander LA", "evidence": [ { "database": "Reactome", "id": "R-HSA-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "15930098", "url": "https://glygen.org/publication/PubMed/15930098" } ] }, { "title": "Cilia and Hedgehog responsiveness in the mouse.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2005", "authors": "Huangfu D, Anderson KV", "evidence": [ { "database": "Reactome", "id": "R-HSA-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "16061793", "url": "https://glygen.org/publication/PubMed/16061793" } ] }, { "title": "Vertebrate Smoothened functions at the primary cilium.", "journal": "Nature", "date": "2005", "authors": "Corbit KC, Aanstad P, Singla V, Norman AR, Stainier DY, Reiter JF", "evidence": [ { "database": "Reactome", "id": "R-HSA-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "16136078", "url": "https://glygen.org/publication/PubMed/16136078" } ] }, { "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": "Tectonic, a novel regulator of the Hedgehog pathway required for both activation and inhibition.", "journal": "Genes & development", "date": "2006", "authors": "Reiter JF, Skarnes WC", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620912", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620912" } ], "reference": [ { "type": "PubMed", "id": "16357211", "url": "https://glygen.org/publication/PubMed/16357211" } ] }, { "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": "Clinical, molecular, and genotype-phenotype correlation studies from 25 cases of oral-facial-digital syndrome type 1: a French and Belgian collaborative study.", "journal": "Journal of medical genetics", "date": "2006", "authors": "Thauvin-Robinet C, Cossee M, Cormier-Daire V, Van Maldergem L, Toutain A, Alembik Y, Bieth E, Layet V, Parent P, David A, Goldenberg A, Mortier G, Heron D, Sagot P, Bouvier AM, Huet F, Cusin V, Donzel A, Devys D, Teyssier JR, Faivre L", "evidence": [ { "database": "UniProtKB", "id": "O75665", "url": "https://www.uniprot.org/uniprot/O75665" } ], "reference": [ { "type": "PubMed", "id": "16397067", "url": "https://glygen.org/publication/PubMed/16397067" } ] }, { "title": "The PITSLRE/CDK11p58 protein kinase promotes centrosome maturation and bipolar spindle formation.", "journal": "EMBO reports", "date": "2006", "authors": "Petretti C, Savoian M, Montembault E, Glover DM, Prigent C, Giet R", "evidence": [ { "database": "Reactome", "id": "R-HSA-380270", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-380270" } ], "reference": [ { "type": "PubMed", "id": "16462731", "url": "https://glygen.org/publication/PubMed/16462731" } ] }, { "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": "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 novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome.", "journal": "Hum. Genet.", "date": "2006", "authors": "Budny B, Chen W, Omran H, Fliegauf M, Tzschach A, Wisniewska M, Jensen LR, Raynaud M, Shoichet SA, Badura M, Lenzner S, Latos-Bielenska A, Ropers HH", "evidence": [ { "database": "UniProtKB", "id": "O75665", "url": "https://www.uniprot.org/uniprot/O75665" } ], "reference": [ { "type": "PubMed", "id": "16783569", "url": "https://glygen.org/publication/PubMed/16783569" } ] }, { "title": "Mitotic activation of the kinase Aurora-A requires its binding partner Bora.", "journal": "Developmental cell", "date": "2006", "authors": "Hutterer A, Berdnik D, Wirtz-Peitz F, Zigman M, Schleiffer A, Knoblich JA", "evidence": [ { "database": "Reactome", "id": "R-HSA-2565942", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2565942" } ], "reference": [ { "type": "PubMed", "id": "16890155", "url": "https://glygen.org/publication/PubMed/16890155" } ] }, { "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": "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": "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-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "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": "A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis.", "journal": "Cell", "date": "2007", "authors": "Nachury MV, Loktev AV, Zhang Q, Westlake CJ, Peranen J, Merdes A, Slusarski DC, Scheller RH, Bazan JF, Sheffield VC, Jackson PK", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620912", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620912" } ], "reference": [ { "type": "PubMed", "id": "17574030", "url": "https://glygen.org/publication/PubMed/17574030" } ] }, { "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-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "17641202", "url": "https://glygen.org/publication/PubMed/17641202" } ] }, { "title": "Functional dissection of Rab GTPases involved in primary cilium formation.", "journal": "The Journal of cell biology", "date": "2007", "authors": "Yoshimura S, Egerer J, Fuchs E, Haas AK, Barr FA", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620912", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620912" } ], "reference": [ { "type": "PubMed", "id": "17646400", "url": "https://glygen.org/publication/PubMed/17646400" } ] }, { "title": "Cep97 and CP110 suppress a cilia assembly program.", "journal": "Cell", "date": "2007", "authors": "Spektor A, Tsang WY, Khoo D, Dynlacht BD", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620912", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620912" } ], "reference": [ { "type": "PubMed", "id": "17719545", "url": "https://glygen.org/publication/PubMed/17719545" } ] }, { "title": "Functional characterization of the OFD1 protein reveals a nuclear localization and physical interaction with subunits of a chromatin remodeling complex.", "journal": "Mol. Biol. Cell", "date": "2007", "authors": "Giorgio Giovanna, Alfieri Mariaevelina, Prattichizzo Clelia, Zullo Alessandro, Cairo Stefano, Franco Brunella", "evidence": [ { "database": "UniProtKB", "id": "O75665", "url": "https://www.uniprot.org/uniprot/O75665" } ], "reference": [ { "type": "PubMed", "id": "17761535", "url": "https://glygen.org/publication/PubMed/17761535" } ] }, { "title": "Patching the gaps in Hedgehog signalling.", "journal": "Nature cell biology", "date": "2007", "authors": "Rohatgi R, Scott MP", "evidence": [ { "database": "Reactome", "id": "R-HSA-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "17762891", "url": "https://glygen.org/publication/PubMed/17762891" } ] }, { "title": "Hedgehog regulates smoothened activity by inducing a conformational switch.", "journal": "Nature", "date": "2007", "authors": "Zhao Y, Tong C, Jiang J", "evidence": [ { "database": "Reactome", "id": "R-HSA-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "17960137", "url": "https://glygen.org/publication/PubMed/17960137" } ] }, { "title": "Mutations in TTBK2, encoding a kinase implicated in tau phosphorylation, segregate with spinocerebellar ataxia type 11.", "journal": "Nature genetics", "date": "2007", "authors": "Houlden H, Johnson J, Gardner-Thorpe C, Lashley T, Hernandez D, Worth P, Singleton AB, Hilton DA, Holton J, Revesz T, Davis MB, Giunti P, Wood NW", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620912", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620912" } ], "reference": [ { "type": "PubMed", "id": "18037885", "url": "https://glygen.org/publication/PubMed/18037885" } ] }, { "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": "Plk1- and beta-TrCP-dependent degradation of Bora controls mitotic progression.", "journal": "The Journal of cell biology", "date": "2008", "authors": "Seki A, Coppinger JA, Du H, Jang CY, Yates JR 3rd, Fang G", "evidence": [ { "database": "Reactome", "id": "R-HSA-2565942", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2565942" } ], "reference": [ { "type": "PubMed", "id": "18378770", "url": "https://glygen.org/publication/PubMed/18378770" } ] }, { "title": "Application of active and kinase-deficient kinome collection for identification of kinases regulating hedgehog signaling.", "journal": "Cell", "date": "2008", "authors": "Varjosalo M, Bjorklund M, Cheng F, Syvanen H, Kivioja T, Kilpinen S, Sun Z, Kallioniemi O, Stunnenberg HG, He WW, Ojala P, Taipale J", "evidence": [ { "database": "Reactome", "id": "R-HSA-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "18455992", "url": "https://glygen.org/publication/PubMed/18455992" } ] }, { "title": "Myosin phosphatase-targeting subunit 1 regulates mitosis by antagonizing polo-like kinase 1.", "journal": "Developmental cell", "date": "2008", "authors": "Yamashiro S, Yamakita Y, Totsukawa G, Goto H, Kaibuchi K, Ito M, Hartshorne DJ, Matsumura F", "evidence": [ { "database": "Reactome", "id": "R-HSA-2565942", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2565942" } ], "reference": [ { "type": "PubMed", "id": "18477460", "url": "https://glygen.org/publication/PubMed/18477460" } ] }, { "title": "Phosphoproteome analysis of the human Chang liver cells using SCX and a complementary mass spectrometric strategy.", "journal": "Proteomics", "date": "2008", "authors": "Sui S, Wang J, Yang B, Song L, Zhang J, Chen M, Liu J, Lu Z, Cai Y, Chen S, Bi W, Zhu Y, He F, Qian X", "evidence": [ { "database": "iPTMnet", "id": "O75665-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75665-1" } ], "reference": [ { "type": "PubMed", "id": "18491316", "url": "https://glygen.org/publication/PubMed/18491316" } ] }, { "title": "Plk1 regulates mitotic Aurora A function through betaTrCP-dependent degradation of hBora.", "journal": "Chromosoma", "date": "2008", "authors": "Chan EH, Santamaria A, Sillje HH, Nigg EA", "evidence": [ { "database": "Reactome", "id": "R-HSA-2565942", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2565942" } ], "reference": [ { "type": "PubMed", "id": "18521620", "url": "https://glygen.org/publication/PubMed/18521620" } ] }, { "title": "Bora and the kinase Aurora a cooperatively activate the kinase Plk1 and control mitotic entry.", "journal": "Science (New York, N.Y.)", "date": "2008", "authors": "Seki A, Coppinger JA, Jang CY, Yates JR, Fang G", "evidence": [ { "database": "Reactome", "id": "R-HSA-2565942", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2565942" } ], "reference": [ { "type": "PubMed", "id": "18566290", "url": "https://glygen.org/publication/PubMed/18566290" } ] }, { "title": "Polo-like kinase-1 is activated by aurora A to promote checkpoint recovery.", "journal": "Nature", "date": "2008", "authors": "Macurek L, Lindqvist A, Lim D, Lampson MA, Klompmaker R, Freire R, Clouin C, Taylor SS, Yaffe MB, Medema RH", "evidence": [ { "database": "Reactome", "id": "R-HSA-2565942", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2565942" } ], "reference": [ { "type": "PubMed", "id": "18615013", "url": "https://glygen.org/publication/PubMed/18615013" } ] }, { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "O75665", "url": "https://www.uniprot.org/uniprot/O75665" }, { "database": "iPTMnet", "id": "O75665-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75665-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "CP110 suppresses primary cilia formation through its interaction with CEP290, a protein deficient in human ciliary disease.", "journal": "Developmental cell", "date": "2008", "authors": "Tsang WY, Bossard C, Khanna H, Peranen J, Swaroop A, Malhotra V, Dynlacht BD", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620912", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620912" } ], "reference": [ { "type": "PubMed", "id": "18694559", "url": "https://glygen.org/publication/PubMed/18694559" } ] }, { "title": "The TRAPP complex: insights into its architecture and function.", "journal": "Traffic (Copenhagen, Denmark)", "date": "2008", "authors": "Sacher M, Kim YG, Lavie A, Oh BH, Segev N", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620912", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620912" } ], "reference": [ { "type": "PubMed", "id": "18801063", "url": "https://glygen.org/publication/PubMed/18801063" } ] }, { "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-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "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": "C2cd3 is required for cilia formation and Hedgehog signaling in mouse.", "journal": "Development (Cambridge, England)", "date": "2008", "authors": "Hoover AN, Wynkoop A, Zeng H, Jia J, Niswander LA, Liu A", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620912", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620912" } ], "reference": [ { "type": "PubMed", "id": "19004860", "url": "https://glygen.org/publication/PubMed/19004860" } ] }, { "title": "A BBSome subunit links ciliogenesis, microtubule stability, and acetylation.", "journal": "Developmental cell", "date": "2008", "authors": "Loktev AV, Zhang Q, Beck JS, Searby CC, Scheetz TE, Bazan JF, Slusarski DC, Sheffield VC, Jackson PK, Nachury MV", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620912", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620912" } ], "reference": [ { "type": "PubMed", "id": "19081074", "url": "https://glygen.org/publication/PubMed/19081074" } ] }, { "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": "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 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-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "19549984", "url": "https://glygen.org/publication/PubMed/19549984" } ] }, { "title": "The mammalian Cos2 homolog Kif7 plays an essential role in modulating Hh signal transduction during development.", "journal": "Current biology : CB", "date": "2009", "authors": "Endoh-Yamagami S, Evangelista M, Wilson D, Wen X, Theunissen JW, Phamluong K, Davis M, Scales SJ, Solloway MJ, de Sauvage FJ, Peterson AS", "evidence": [ { "database": "Reactome", "id": "R-HSA-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "19592253", "url": "https://glygen.org/publication/PubMed/19592253" } ] }, { "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": "O75665-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75665-1" } ], "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-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "19666503", "url": "https://glygen.org/publication/PubMed/19666503" } ] }, { "title": "Quantitative analysis of the human spindle phosphoproteome at distinct mitotic stages.", "journal": "Journal of proteome research", "date": "2009", "authors": "Malik R, Lenobel R, Santamaria A, Ries A, Nigg EA, Korner R", "evidence": [ { "database": "iPTMnet", "id": "O75665-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75665-1" } ], "reference": [ { "type": "PubMed", "id": "19691289", "url": "https://glygen.org/publication/PubMed/19691289" } ] }, { "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": "OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin.", "journal": "Am. J. Hum. Genet.", "date": "2009", "authors": "Coene KL, Roepman R, Doherty D, Afroze B, Kroes HY, Letteboer SJ, Ngu LH, Budny B, van Wijk E, Gorden NT, Azhimi M, Thauvin-Robinet C, Veltman JA, Boink M, Kleefstra T, Cremers FP, van Bokhoven H, de Brouwer AP", "evidence": [ { "database": "UniProtKB", "id": "O75665", "url": "https://www.uniprot.org/uniprot/O75665" } ], "reference": [ { "type": "PubMed", "id": "19800048", "url": "https://glygen.org/publication/PubMed/19800048" } ] }, { "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": "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": "Nuclear-cytoplasmic shuttling of Chibby controls beta-catenin signaling.", "journal": "Molecular biology of the cell", "date": "2010", "authors": "Li FQ, Mofunanya A, Fischer V, Hall J, Takemaru K", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620912", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620912" } ], "reference": [ { "type": "PubMed", "id": "19940019", "url": "https://glygen.org/publication/PubMed/19940019" } ] }, { "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": "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-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "19996169", "url": "https://glygen.org/publication/PubMed/19996169" } ] }, { "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": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "iPTMnet", "id": "O75665-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75665-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "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-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "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": "Ofd1, a human disease gene, regulates the length and distal structure of centrioles.", "journal": "Dev. Cell", "date": "2010", "authors": "Singla V, Romaguera-Ros M, Garcia-Verdugo JM, Reiter JF", "evidence": [ { "database": "UniProtKB", "id": "O75665", "url": "https://www.uniprot.org/uniprot/O75665" }, { "database": "Reactome", "id": "R-HSA-5620912", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620912" } ], "reference": [ { "type": "PubMed", "id": "20230748", "url": "https://glygen.org/publication/PubMed/20230748" } ] }, { "title": "Coordination of Rab8 and Rab11 in primary ciliogenesis.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2010", "authors": "Knodler A, Feng S, Zhang J, Zhang X, Das A, Peranen J, Guo W", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620912", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620912" } ], "reference": [ { "type": "PubMed", "id": "20308558", "url": "https://glygen.org/publication/PubMed/20308558" } ] }, { "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": "The ciliary membrane.", "journal": "Current opinion in cell biology", "date": "2010", "authors": "Rohatgi R, Snell WJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620912", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620912" } ], "reference": [ { "type": "PubMed", "id": "20399632", "url": "https://glygen.org/publication/PubMed/20399632" } ] }, { "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-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "20460306", "url": "https://glygen.org/publication/PubMed/20460306" } ] }, { "title": "A septin diffusion barrier at the base of the primary cilium maintains ciliary membrane protein distribution.", "journal": "Science (New York, N.Y.)", "date": "2010", "authors": "Hu Q, Milenkovic L, Jin H, Scott MP, Nachury MV, Spiliotis ET, Nelson WJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620912", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620912" } ], "reference": [ { "type": "PubMed", "id": "20558667", "url": "https://glygen.org/publication/PubMed/20558667" } ] }, { "title": "Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy.", "journal": "Nat. Genet.", "date": "2010", "authors": "Otto Edgar A, Hurd Toby W, Airik Rannar, Chaki Moumita, Zhou Weibin, Stoetzel Corinne, Patil Suresh B, Levy Shawn, Ghosh Amiya K, Murga-Zamalloa Carlos A, van Reeuwijk Jeroen, Letteboer Stef J F, Sang Liyun, Giles Rachel H, Liu Qin, Coene Karlien L M, Estrada-Cuzcano Alejandro, Collin Rob W J, McLaughlin Heather M, Held Susanne, Kasanuki Jennifer M, Ramaswami Gokul, Conte Jinny, Lopez Irma, Washburn Joseph, Macdonald James, Hu Jinghua, Yamashita Yukiko, Maher Eamonn R, Guay-Woodford Lisa M, Neumann Hartmut P H, Oberm\u00fcller Nicholas, Koenekoop Robert K, Bergmann Carsten, Bei Xiaoshu, Lewis Richard A, Katsanis Nicholas, Lopes Vanda, Williams David S, Lyons Robert H, Dang Chi V, Brito Daniela A, Dias M\u00f3nica Bettencourt, Zhang Xinmin, Cavalcoli James D, N\u00fcrnberg Gudrun, N\u00fcrnberg Peter, Pierce Eric A, Jackson Peter K, Antignac Corinne, Saunier Sophie, Roepman Ronald, Dollfus Helene, Khanna Hemant, Hildebrandt Friedhelm", "evidence": [ { "database": "UniProtKB", "id": "O75665", "url": "https://www.uniprot.org/uniprot/O75665" } ], "reference": [ { "type": "PubMed", "id": "20835237", "url": "https://glygen.org/publication/PubMed/20835237" } ] }, { "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-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "20844016", "url": "https://glygen.org/publication/PubMed/20844016" } ] }, { "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-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "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-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "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": "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": "Primary cilia membrane assembly is initiated by Rab11 and transport protein particle II (TRAPPII) complex-dependent trafficking of Rabin8 to the centrosome.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2011", "authors": "Westlake CJ, Baye LM, Nachury MV, Wright KJ, Ervin KE, Phu L, Chalouni C, Beck JS, Kirkpatrick DS, Slusarski DC, Sheffield VC, Scheller RH, Jackson PK", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620912", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620912" } ], "reference": [ { "type": "PubMed", "id": "21273506", "url": "https://glygen.org/publication/PubMed/21273506" } ] }, { "title": "Two TPX2-dependent switches control the activity of Aurora A.", "journal": "PloS one", "date": "2011", "authors": "Xu X, Wang X, Xiao Z, Li Y, Wang Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-8854518", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8854518" } ], "reference": [ { "type": "PubMed", "id": "21347367", "url": "https://glygen.org/publication/PubMed/21347367" } ] }, { "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": "O75665", "url": "https://www.uniprot.org/uniprot/O75665" }, { "database": "iPTMnet", "id": "O75665", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75665" } ], "reference": [ { "type": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" } ] }, { "title": "MKS and NPHP modules cooperate to establish basal body/transition zone membrane associations and ciliary gate function during ciliogenesis.", "journal": "The Journal of cell biology", "date": "2011", "authors": "Williams CL, Li C, Kida K, Inglis PN, Mohan S, Semenec L, Bialas NJ, Stupay RM, Chen N, Blacque OE, Yoder BK, Leroux MR", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620912", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620912" } ], "reference": [ { "type": "PubMed", "id": "21422230", "url": "https://glygen.org/publication/PubMed/21422230" } ] }, { "title": "TTBK2 kinase substrate specificity and the impact of spinocerebellar-ataxia-causing mutations on expression, activity, localization and development.", "journal": "The Biochemical journal", "date": "2011", "authors": "Bouskila M, Esoof N, Gay L, Fang EH, Deak M, Begley MJ, Cantley LC, Prescott A, Storey KG, Alessi DR", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620912", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620912" } ], "reference": [ { "type": "PubMed", "id": "21548880", "url": "https://glygen.org/publication/PubMed/21548880" } ] }, { "title": "Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways.", "journal": "Cell", "date": "2011", "authors": "Sang L, Miller JJ, Corbit KC, Giles RH, Brauer MJ, Otto EA, Baye LM, Wen X, Scales SJ, Kwong M, Huntzicker EG, Sfakianos MK, Sandoval W, Bazan JF, Kulkarni P, Garcia-Gonzalo FR, Seol AD, O'Toole JF, Held S, Reutter HM, Lane WS, Rafiq MA, Noor A, Ansar M, Devi AR, Sheffield VC, Slusarski DC, Vincent JB, Doherty DA, Hildebrandt F, Reiter JF, Jackson PK", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620912", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620912" } ], "reference": [ { "type": "PubMed", "id": "21565611", "url": "https://glygen.org/publication/PubMed/21565611" } ] }, { "title": "Centriolar kinesin Kif24 interacts with CP110 to remodel microtubules and regulate ciliogenesis.", "journal": "Cell", "date": "2011", "authors": "Kobayashi T, Tsang WY, Li J, Lane W, Dynlacht BD", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620912", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620912" } ], "reference": [ { "type": "PubMed", "id": "21620453", "url": "https://glygen.org/publication/PubMed/21620453" } ] }, { "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-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "21695114", "url": "https://glygen.org/publication/PubMed/21695114" } ] }, { "title": "A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition.", "journal": "Nature genetics", "date": "2011", "authors": "Garcia-Gonzalo FR, Corbit KC, Sirerol-Piquer MS, Ramaswami G, Otto EA, Noriega TR, Seol AD, Robinson JF, Bennett CL, Josifova DJ, Garcia-Verdugo JM, Katsanis N, Hildebrandt F, Reiter JF", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620912", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620912" } ], "reference": [ { "type": "PubMed", "id": "21725307", "url": "https://glygen.org/publication/PubMed/21725307" } ] }, { "title": "Transition zone proteins and cilia dynamics.", "journal": "Nature genetics", "date": "2011", "authors": "Benzing T, Schermer B", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620912", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620912" } ], "reference": [ { "type": "PubMed", "id": "21792235", "url": "https://glygen.org/publication/PubMed/21792235" } ] }, { "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-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "21801010", "url": "https://glygen.org/publication/PubMed/21801010" } ] }, { "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-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "22007132", "url": "https://glygen.org/publication/PubMed/22007132" } ] }, { "title": "Activation of Aurora-A kinase by protein partner binding and phosphorylation are independent and synergistic.", "journal": "The Journal of biological chemistry", "date": "2012", "authors": "Dodson CA, Bayliss R", "evidence": [ { "database": "Reactome", "id": "R-HSA-8854518", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8854518" } ], "reference": [ { "type": "PubMed", "id": "22094468", "url": "https://glygen.org/publication/PubMed/22094468" } ] }, { "title": "A ciliopathy complex at the transition zone protects the cilia as a privileged membrane domain.", "journal": "Nature cell biology", "date": "2011", "authors": "Chih B, Liu P, Chinn Y, Chalouni C, Komuves LG, Hass PE, Sandoval W, Peterson AS", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620912", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620912" } ], "reference": [ { "type": "PubMed", "id": "22179047", "url": "https://glygen.org/publication/PubMed/22179047" } ] }, { "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": "Plk1-dependent phosphorylation of optineurin provides a negative feedback mechanism for mitotic progression.", "journal": "Molecular cell", "date": "2012", "authors": "Kachaner D, Filipe J, Laplantine E, Bauch A, Bennett KL, Superti-Furga G, Israel A, Weil R", "evidence": [ { "database": "Reactome", "id": "R-HSA-2565942", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2565942" } ], "reference": [ { "type": "PubMed", "id": "22365832", "url": "https://glygen.org/publication/PubMed/22365832" } ] }, { "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": "A Rab8 guanine nucleotide exchange factor-effector interaction network regulates primary ciliogenesis.", "journal": "The Journal of biological chemistry", "date": "2012", "authors": "Feng S, Knodler A, Ren J, Zhang J, Zhang X, Hong Y, Huang S, Peranen J, Guo W", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620912", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620912" } ], "reference": [ { "type": "PubMed", "id": "22433857", "url": "https://glygen.org/publication/PubMed/22433857" } ] }, { "title": "Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23).", "journal": "Hum. Mol. Genet.", "date": "2012", "authors": "Webb Tom R, Parfitt David A, Gardner Jessica C, Martinez Ariadna, Bevilacqua Dalila, Davidson Alice E, Zito Ilaria, Thiselton Dawn L, Ressa Jacob H C, Apergi Marina, Schwarz Nele, Kanuga Naheed, Michaelides Michel, Cheetham Michael E, Gorin Michael B, Hardcastle Alison J", "evidence": [ { "database": "UniProtKB", "id": "O75665", "url": "https://www.uniprot.org/uniprot/O75665" } ], "reference": [ { "type": "PubMed", "id": "22619378", "url": "https://glygen.org/publication/PubMed/22619378" } ] }, { "title": "LATS1/WARTS phosphorylates MYPT1 to counteract PLK1 and regulate mammalian mitotic progression.", "journal": "The Journal of cell biology", "date": "2012", "authors": "Chiyoda T, Sugiyama N, Shimizu T, Naoe H, Kobayashi Y, Ishizawa J, Arima Y, Tsuda H, Ito M, Kaibuchi K, Aoki D, Ishihama Y, Saya H, Kuninaka S", "evidence": [ { "database": "Reactome", "id": "R-HSA-2565942", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2565942" } ], "reference": [ { "type": "PubMed", "id": "22641346", "url": "https://glygen.org/publication/PubMed/22641346" } ] }, { "title": "The base of the cilium: roles for transition fibres and the transition zone in ciliary formation, maintenance and compartmentalization.", "journal": "EMBO reports", "date": "2012", "authors": "Reiter JF, Blacque OE, Leroux MR", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620912", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620912" } ], "reference": [ { "type": "PubMed", "id": "22653444", "url": "https://glygen.org/publication/PubMed/22653444" } ] }, { "title": "Novel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome: a study of the extensive clinical variability.", "journal": "Human mutation", "date": "2013", "authors": "Bisschoff IJ, Zeschnigk C, Horn D, Wellek B, Riess A, Wessels M, Willems P, Jensen P, Busche A, Bekkebraten J, Chopra M, Hove HD, Evers C, Heimdal K, Kaiser AS, Kunstmann E, Robinson KL, Linne M, Martin P, McGrath J, Pradel W, Prescott KE, Roesler B, Rudolf G, Siebers-Renelt U, Tyshchenko N, Wieczorek D, Wolff G, Dobyns WB, Morris-Rosendahl DJ", "evidence": [ { "database": "UniProtKB", "id": "O75665", "url": "https://www.uniprot.org/uniprot/O75665" } ], "reference": [ { "type": "PubMed", "id": "23033313", "url": "https://glygen.org/publication/PubMed/23033313" } ] }, { "title": "TTBK2 kinase: linking primary cilia and cerebellar ataxias.", "journal": "Cell", "date": "2012", "authors": "Jackson PK", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620912", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620912" } ], "reference": [ { "type": "PubMed", "id": "23141531", "url": "https://glygen.org/publication/PubMed/23141531" } ] }, { "title": "The spinocerebellar ataxia-associated gene Tau tubulin kinase 2 controls the initiation of ciliogenesis.", "journal": "Cell", "date": "2012", "authors": "Goetz SC, Liem KF Jr, Anderson KV", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620912", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620912" } ], "reference": [ { "type": "PubMed", "id": "23141541", "url": "https://glygen.org/publication/PubMed/23141541" } ] }, { "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": "O75665", "url": "https://www.uniprot.org/uniprot/O75665" }, { "database": "iPTMnet", "id": "O75665", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75665" } ], "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": "Cep164 mediates vesicular docking to the mother centriole during early steps of ciliogenesis.", "journal": "The Journal of cell biology", "date": "2012", "authors": "Schmidt KN, Kuhns S, Neuner A, Hub B, Zentgraf H, Pereira G", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620912", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620912" } ], "reference": [ { "type": "PubMed", "id": "23253480", "url": "https://glygen.org/publication/PubMed/23253480" } ] }, { "title": "Proteome wide purification and identification of O-GlcNAc-modified proteins using click chemistry and mass spectrometry.", "journal": "Journal of proteome research", "date": "2013", "authors": "Hahne H, Sobotzki N, Nyberg T, Helm D, Borodkin VS, van Aalten DM, Agnew B, Kuster B", "evidence": [ { "database": "O-GlcNAc Database", "id": "O75665", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O75665" } ], "reference": [ { "type": "PubMed", "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498" } ] }, { "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-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "23332756", "url": "https://glygen.org/publication/PubMed/23332756" } ] }, { "title": "Centriole distal appendages promote membrane docking, leading to cilia initiation.", "journal": "Genes & development", "date": "2013", "authors": "Tanos BE, Yang HJ, Soni R, Wang WJ, Macaluso FP, Asara JM, Tsou MF", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620912", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620912" } ], "reference": [ { "type": "PubMed", "id": "23348840", "url": "https://glygen.org/publication/PubMed/23348840" } ] }, { "title": "The microtubule affinity regulating kinase MARK4 promotes axoneme extension during early ciliogenesis.", "journal": "The Journal of cell biology", "date": "2013", "authors": "Kuhns S, Schmidt KN, Reymann J, Gilbert DF, Neuner A, Hub B, Carvalho R, Wiedemann P, Zentgraf H, Erfle H, Klingmuller U, Boutros M, Pereira G", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620912", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620912" } ], "reference": [ { "type": "PubMed", "id": "23400999", "url": "https://glygen.org/publication/PubMed/23400999" } ] }, { "title": "CCDC41 is required for ciliary vesicle docking to the mother centriole.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2013", "authors": "Joo K, Kim CG, Lee MS, Moon HY, Lee SH, Kim MJ, Kweon HS, Park WY, Kim CH, Gleeson JG, Kim J", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620912", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620912" } ], "reference": [ { "type": "PubMed", "id": "23530209", "url": "https://glygen.org/publication/PubMed/23530209" } ] }, { "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-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "23719536", "url": "https://glygen.org/publication/PubMed/23719536" } ] }, { "title": "Assembling a primary cilium.", "journal": "Current opinion in cell biology", "date": "2013", "authors": "Kim S, Dynlacht BD", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620912", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620912" } ], "reference": [ { "type": "PubMed", "id": "23747070", "url": "https://glygen.org/publication/PubMed/23747070" } ] }, { "title": "Discovering regulators of centriole biogenesis through siRNA-based functional genomics in human cells.", "journal": "Developmental cell", "date": "2013", "authors": "Balestra FR, Strnad P, Fluckiger I, Gonczy P", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620912", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620912" } ], "reference": [ { "type": "PubMed", "id": "23769972", "url": "https://glygen.org/publication/PubMed/23769972" } ] }, { "title": "Primary ciliogenesis requires the distal appendage component Cep123.", "journal": "Biology open", "date": "2013", "authors": "Sillibourne JE, Hurbain I, Grand-Perret T, Goud B, Tran P, Bornens M", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620912", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620912" } ], "reference": [ { "type": "PubMed", "id": "23789104", "url": "https://glygen.org/publication/PubMed/23789104" } ] }, { "title": "NuMA phosphorylation by CDK1 couples mitotic progression with cortical dynein function.", "journal": "The EMBO journal", "date": "2013", "authors": "Kotak S, Busso C, Gonczy P", "evidence": [ { "database": "Reactome", "id": "R-HSA-380320", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-380320" } ], "reference": [ { "type": "PubMed", "id": "23921553", "url": "https://glygen.org/publication/PubMed/23921553" } ] }, { "title": "CP110 and its network of partners coordinately regulate cilia assembly.", "journal": "Cilia", "date": "2013", "authors": "Tsang WY, Dynlacht BD", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620912", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620912" } ], "reference": [ { "type": "PubMed", "id": "24053599", "url": "https://glygen.org/publication/PubMed/24053599" } ] }, { "title": "Autophagy promotes primary ciliogenesis by removing OFD1 from centriolar satellites.", "journal": "Nature", "date": "2013", "authors": "Tang Z, Lin MG, Stowe TR, Chen S, Zhu M, Stearns T, Franco B, Zhong Q", "evidence": [ { "database": "UniProtKB", "id": "O75665", "url": "https://www.uniprot.org/uniprot/O75665" }, { "database": "Reactome", "id": "R-HSA-5620912", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620912" } ], "reference": [ { "type": "PubMed", "id": "24089205", "url": "https://glygen.org/publication/PubMed/24089205" } ] }, { "title": "A new cellular stress response that triggers centriolar satellite reorganization and ciliogenesis.", "journal": "EMBO J.", "date": "2013", "authors": "Villumsen BH, Danielsen JR, Povlsen L, Sylvestersen KB, Merdes A, Beli P, Yang YG, Choudhary C, Nielsen ML, Mailand N, Bekker-Jensen S", "evidence": [ { "database": "UniProtKB", "id": "O75665", "url": "https://www.uniprot.org/uniprot/O75665" } ], "reference": [ { "type": "PubMed", "id": "24121310", "url": "https://glygen.org/publication/PubMed/24121310" } ] }, { "title": "Transition fibre protein FBF1 is required for the ciliary entry of assembled intraflagellar transport complexes.", "journal": "Nature communications", "date": "2013", "authors": "Wei Q, Xu Q, Zhang Y, Li Y, Zhang Q, Hu Z, Harris PC, Torres VE, Ling K, Hu J", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620912", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620912" } ], "reference": [ { "type": "PubMed", "id": "24231678", "url": "https://glygen.org/publication/PubMed/24231678" } ] }, { "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-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "24302888", "url": "https://glygen.org/publication/PubMed/24302888" } ] }, { "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": "C2cd3 is critical for centriolar distal appendage assembly and ciliary vesicle docking in mammals.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2014", "authors": "Ye X, Zeng H, Ning G, Reiter JF, Liu A", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620912", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620912" } ], "reference": [ { "type": "PubMed", "id": "24469809", "url": "https://glygen.org/publication/PubMed/24469809" } ] }, { "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-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "24845016", "url": "https://glygen.org/publication/PubMed/24845016" } ] }, { "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-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "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": "Cep164 triggers ciliogenesis by recruiting Tau tubulin kinase 2 to the mother centriole.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2014", "authors": "Cajanek L, Nigg EA", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620912", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620912" } ], "reference": [ { "type": "PubMed", "id": "24982133", "url": "https://glygen.org/publication/PubMed/24982133" } ] }, { "title": "The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation.", "journal": "Nat. Genet.", "date": "2014", "authors": "Thauvin-Robinet C, Lee JS, Lopez E, Herranz-Perez V, Shida T, Franco B, Jego L, Ye F, Pasquier L, Loget P, Gigot N, Aral B, Lopes CA, St-Onge J, Bruel AL, Thevenon J, Gonzalez-Granero S, Alby C, Munnich A, Vekemans M, Huet F, Fry AM, Saunier S, Riviere JB, Attie-Bitach T, Garcia-Verdugo JM, Faivre L, Megarbane A, Nachury MV", "evidence": [ { "database": "UniProtKB", "id": "O75665", "url": "https://www.uniprot.org/uniprot/O75665" } ], "reference": [ { "type": "PubMed", "id": "24997988", "url": "https://glygen.org/publication/PubMed/24997988" } ] }, { "title": "Centriole structure.", "journal": "Philosophical transactions of the Royal Society of London. Series B, Biological sciences", "date": "2014", "authors": "Winey M, O'Toole E", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620912", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620912" } ], "reference": [ { "type": "PubMed", "id": "25047611", "url": "https://glygen.org/publication/PubMed/25047611" } ] }, { "title": "Chibby promotes ciliary vesicle formation and basal body docking during airway cell differentiation.", "journal": "The Journal of cell biology", "date": "2014", "authors": "Burke MC, Li FQ, Cyge B, Arashiro T, Brechbuhl HM, Chen X, Siller SS, Weiss MA, O'Connell CB, Love D, Westlake CJ, Reynolds SD, Kuriyama R, Takemaru K", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620912", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620912" } ], "reference": [ { "type": "PubMed", "id": "25313408", "url": "https://glygen.org/publication/PubMed/25313408" } ] }, { "title": "Microtubule nucleation in mitosis by a RanGTP-dependent protein complex.", "journal": "Current biology : CB", "date": "2015", "authors": "Scrofani J, Sardon T, Meunier S, Vernos I", "evidence": [ { "database": "Reactome", "id": "R-HSA-8854518", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8854518" } ], "reference": [ { "type": "PubMed", "id": "25532896", "url": "https://glygen.org/publication/PubMed/25532896" } ] }, { "title": "Joubert Syndrome in French Canadians and Identification of Mutations in CEP104.", "journal": "American journal of human genetics", "date": "2015", "authors": "Srour M, Hamdan FF, McKnight D, Davis E, Mandel H, Schwartzentruber J, Martin B, Patry L, Nassif C, Dionne-Laporte A, Ospina LH, Lemyre E, Massicotte C, Laframboise R, Maranda B, Labuda D, Decarie JC, Rypens F, Goldsher D, Fallet-Bianco C, Soucy JF, Laberge AM, Maftei C, Boycott K, Brais B, Boucher RM, Rouleau GA, Katsanis N, Majewski J, Elpeleg O, Kukolich MK, Shalev S, Michaud JL", "evidence": [ { "database": "UniProtKB", "id": "O75665", "url": "https://www.uniprot.org/uniprot/O75665" } ], "reference": [ { "type": "PubMed", "id": "26477546", "url": "https://glygen.org/publication/PubMed/26477546" } ] }, { "title": "OFIP/KIAA0753 forms a complex with OFD1 and FOR20 at pericentriolar satellites and centrosomes and is mutated in one individual with oral-facial-digital syndrome.", "journal": "Hum. Mol. Genet.", "date": "2016", "authors": "Chevrier V, Bruel AL, Van Dam TJ, Franco B, Lo Scalzo M, Lembo F, Audebert S, Baudelet E, Isnardon D, Bole A, Borg JP, Kuentz P, Thevenon J, Burglen L, Faivre L, Riviere JB, Huynen MA, Birnbaum D, Rosnet O, Thauvin-Robinet C", "evidence": [ { "database": "UniProtKB", "id": "O75665", "url": "https://www.uniprot.org/uniprot/O75665" } ], "reference": [ { "type": "PubMed", "id": "26643951", "url": "https://glygen.org/publication/PubMed/26643951" } ] }, { "title": "A triarylphosphine-trimethylpiperidine reagent for the one-step derivatization and enrichment of protein post-translational modifications and identification by mass spectrometry.", "journal": "Chemical communications (Cambridge, England)", "date": "2018", "authors": "Huo B, Zhang W, Zhao X, Dong H, Yu Y, Wang J, Qian X, Qin W", "evidence": [ { "database": "O-GlcNAc Database", "id": "O75665", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O75665" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "title": "The TBC1D31/praja2 complex controls primary ciliogenesis through PKA-directed OFD1 ubiquitylation.", "journal": "The EMBO journal", "date": "2021", "authors": "Senatore E, Chiuso F, Rinaldi L, Intartaglia D, Delle Donne R, Pedone E, Catalanotti B, Pirone L, Fiorillo B, Moraca F, Giamundo G, Scala G, Raffeiner A, Torres-Quesada O, Stefan E, Kwiatkowski M, van Pijkeren A, Morleo M, Franco B, Garbi C, Conte I, Feliciello A", "evidence": [ { "database": "UniProtKB", "id": "O75665", "url": "https://www.uniprot.org/uniprot/O75665" }, { "database": "iPTMnet", "id": "O75665", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75665" } ], "reference": [ { "type": "PubMed", "id": "33934390", "url": "https://glygen.org/publication/PubMed/33934390" } ] }, { "title": "A ciliopathy complex builds distal appendages to initiate ciliogenesis.", "journal": "The Journal of cell biology", "date": "2021", "authors": "Kumar D, Rains A, Herranz-Perez V, Lu Q, Shi X, Swaney DL, Stevenson E, Krogan NJ, Huang B, Westlake C, Garcia-Verdugo JM, Yoder BK, Reiter JF", "evidence": [ { "database": "RefSeq", "id": "NP_001317138", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317138" } ], "reference": [ { "type": "PubMed", "id": "34241634", "url": "https://glygen.org/publication/PubMed/34241634" } ] }, { "title": "Extraciliary OFD1 Is Involved in Melanocyte Survival through Cell Adhesion to ECM via Paxillin.", "journal": "International journal of molecular sciences", "date": "2023-12-15", "authors": "Kim Nan-Hyung, Lee Chang Hoon, Lee Ai-Young", "evidence": [ { "database": "RefSeq", "id": "NP_001317138", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317138" } ], "reference": [ { "type": "PubMed", "id": "38139355", "url": "https://glygen.org/publication/PubMed/38139355" } ] }, { "title": "Mutation of the predicted p34cdc2 phosphorylation sites in NuMA impair the assembly of the mitotic spindle and block mitosis.", "journal": "Journal of cell science", "date": "1995", "authors": "Compton DA, Luo C", "evidence": [ { "database": "Reactome", "id": "R-HSA-380320", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-380320" } ], "reference": [ { "type": "PubMed", "id": "7769006", "url": "https://glygen.org/publication/PubMed/7769006" } ] }, { "title": "Cell cycle regulation of the activity and subcellular localization of Plk1, a human protein kinase implicated in mitotic spindle function.", "journal": "The Journal of cell biology", "date": "1995", "authors": "Golsteyn RM, Mundt KE, Fry AM, Nigg EA", "evidence": [ { "database": "Reactome", "id": "R-HSA-380270", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-380270" } ], "reference": [ { "type": "PubMed", "id": "7790358", "url": "https://glygen.org/publication/PubMed/7790358" } ] }, { "title": "Dynamic changes of NuMA during the cell cycle and possible appearance of a truncated form of NuMA during apoptosis.", "journal": "Journal of cell science", "date": "1996", "authors": "Hsu HL, Yeh NH", "evidence": [ { "database": "Reactome", "id": "R-HSA-380320", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-380320" } ], "reference": [ { "type": "PubMed", "id": "8838651", "url": "https://glygen.org/publication/PubMed/8838651" } ] }, { "title": "Characterization of Cxorf5 (71-7A), a novel human cDNA mapping to Xp22 and encoding a protein containing coiled-coil alpha-helical domains.", "journal": "Genomics", "date": "1998", "authors": "de Conciliis L, Marchitiello A, Wapenaar MC, Borsani G, Giglio S, Mariani M, Consalez GG, Zuffardi O, Franco B, Ballabio A, Banfi S", "evidence": [ { "database": "UniProtKB", "id": "O75665", "url": "https://www.uniprot.org/uniprot/O75665" } ], "reference": [ { "type": "PubMed", "id": "9722947", "url": "https://glygen.org/publication/PubMed/9722947" } ] } ], "pathway": [ { "id": "hsa:8481", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:8481", "resource": "KEGG Pathway" }, { "id": "R-HSA-2565942", "name": "Regulation of PLK1 Activity at G2/M Transition", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2565942", "resource": "Reactome", "description": "Regulation of PLK1 Activity at G2/M Transition" }, { "id": "R-HSA-380259", "name": "Loss of Nlp from mitotic centrosomes", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-380259", "resource": "Reactome", "description": "Loss of Nlp from mitotic centrosomes" }, { "id": "R-HSA-380270", "name": "Recruitment of mitotic centrosome proteins and complexes", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-380270", "resource": "Reactome", "description": "Recruitment of mitotic centrosome proteins and complexes" }, { "id": "R-HSA-380284", "name": "Loss of proteins required for interphase microtubule organization from the centrosome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-380284", "resource": "Reactome", "description": "Loss of proteins required for interphase microtubule organization from the centrosome" }, { "id": "R-HSA-380320", "name": "Recruitment of NuMA to mitotic centrosomes", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-380320", "resource": "Reactome", "description": "Recruitment of NuMA to mitotic centrosomes" }, { "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-5620912", "name": "Anchoring of the basal body to the plasma membrane", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620912", "resource": "Reactome", "description": "Anchoring of the basal body to the plasma membrane" }, { "id": "R-HSA-8854518", "name": "AURKA Activation by TPX2", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8854518", "resource": "Reactome", "description": "AURKA Activation by TPX2" } ], "orthologs": [ { "uniprot_canonical_ac": "A0A8I6AA62-1", "protein_name": "OFD1, centriole and centriolar satellite protein", "gene_name": "Ofd1", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MAQSTMPHKCDDVLSQDELRKKLYQTFKDRGILDTLKTQLRNQLVHELMHPVLSGEVKPPSISVEGSSLLIGASNSLVADHLQRCGYEYSLSVFFPESGLAKEKIFTMQDLLQLIRINPSSSLYKSLISGFDKDNQKGFLMSFLKELAEYHQTKESCDVETQTSTTFPSQVSLAEKFQLIDDQFAEAFPHRPKLESLETKLNEYKKEIQQQLQVEMCQKLKYFREAEITKVRMEEKRKYEKELAEFRNEFERTCQAKNEALISQEKNTLERIKKHQEMETKEIYAQRQLLLNDIDLLRGREAELKERIEAFELTQKLQEEKNKNEAEALRRREQNLKNIEEAYEQKLKTELLKYQLELKDDYITRTNKLLEEERKNKEKTFHLQEELTVINSKKEELSKSVQRMKEVELELESVKAQFFAMSKQNHSLNEKLKEMSDYSQLKEEKVELQAQNKLLKQQLEENRNENLRLLDRITQPPPELLVFQKELQKTEKAMALEHKGFETHRQALQKQLQSEIENSTQLRTQISEYDASVKRLTVQVADLKSQLKQTQTALENEVFRNPKRSLTLHSLTGLLSGKMAPHNEDTSGDFLNVPLEQNKVMAGAVVSRVTPYVNTATEASSPDSDLEFVASSTKAKVKELEQEAERLEKAFRTYYQRVTQNPSMSPQPAKSPSSVYSVGALRSIASSSRDRHVPAEDRVVSEQPLADILKEEKSDVSKAFVGSMVSRPRRTSSSTRLSSTPHPKSRRSLDNEMYLEGLRRLHITSSSPCLDRPSESPAASPTPCPERTPQPSSVPSRHSFSGPSFSSPPEQNASLYQRQTEMQDKSEFSNVDKQSLKDKEKFEPSFRWNKPEQFEAEGLHPAGDMPGIDVAAATLSSRPISYNHPSGAVQSQTGEQKEQQIWELHMKERRQREEQRQNERQEALERERRELEKLEQERRMIEESLKSEIEEELEKSVQEQKDKSAHGENPLEKYMKIIQQRQEQSSADKSSKKSGKECSLVDMMIPSDKDDRYGFLQTLCPSGKSLLLLLSAKIIR", "length": 1036 }, "evidence": [ { "id": "45918846", "url": "http://www.informatics.jax.org/homology/45918846", "database": "MGI" }, { "id": "O75665", "url": "https://omabrowser.org/oma/group/O75665/", "database": "OMA" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q80Z25-1", "protein_name": "Centriole and centriolar satellite protein OFD1", "gene_name": "Ofd1", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MAQSNMPHKSDVLSQDELRKKLYQTFKDRGVLDTLQTQLRNQLIHELMHPVLSGEVKPPSISVEGSALLIGASNSLVADHLQRCGYEYSLSVFFPESGLAKEKIFTMQDLLQLIRINPSSSLYKSLISGFDKENKKGFLMSFLKELAEYYQAKESCDAETQTSTTFPSQVSLAEKFQLIDAQFADGFPHRSKLESLETKLNEYKKEVQHQLQVEMCHKLKYFREAEITKVKMEERRKYEKELAEFQNEFERTCQAKNEALISQEKNSLERIKKHREMESKEIYAQRQLLLNDIALLRGREAELKERIETFELTQKLQEEKIKSEAEALERREQNLKNIEDTYDQKLKTELLKYQLELKDDYITRTNKLLEEERKNKEKTIHLQEELTVINSKKEELSKSVKHMKEVELELESVKAQFLAISKQNHLLNEKVREMSDYSQLKEEKVELQAQNKLLKLQLEETRNENLRLLDRITQPPPELVIFQKELQKTEKAMELEHKDFETHRQALEKQLQSEIENSAQLRTQIAEYDASVKRLTVQVAELKSQLKQTQIALENEVYRNPKHSLIHSLSGLLLSGKMAPHSEDKSGDFLNVPLEQNKVIAGAVMSRVPPYVNTATEASSPESDFEFIASSTKAKVRELEQEAERLEKAFRTYYQRATQNPSTSPQPAKSPPSVNSVAALRSIASSSMDRPVSAEDRVVSEQPLGDMLKEEMSDMSKAFMGSVVSRPRRTSSSTRLSSTPHPKSRRSLDNEMYLEGLGRLHMTSSSPLLDRVSASPAASPSPCPERTAQASPVPSRHSFSGLPEQNACLYQRQTETQDKSELSNVDKQSLKDEKFEPPFRWNKTEQFEAEGLHPAGDMPGIDFAVATQSSRLISYDYPSAVQSQTGEQDEQELWELHMKERRQREEQRHNERQEALERERRELGKLEQERRMIEESLKMEMEEELEKSVQDQKDKSAHCENTLEKYMKIIQQRQEESNADKSSKKSGKECSLVDMMMPSDKDESSPGFSHEEPDDMW", "length": 1017 }, "evidence": [ { "id": "45918846", "url": "http://www.informatics.jax.org/homology/45918846", "database": "MGI" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 4, "go_terms": [ { "name": "molecular adaptor activity", "id": "GO:0060090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060090", "evidence": [ { "database": "UniProtKB", "id": "O75665", "url": "https://www.uniprot.org/uniprot/O75665" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "O75665", "url": "https://www.uniprot.org/uniprot/O75665" } ], "pmid": "" }, { "name": "alpha-tubulin binding", "id": "GO:0043014", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043014", "evidence": [ { "database": "UniProtKB", "id": "O75665", "url": "https://www.uniprot.org/uniprot/O75665" } ], "pmid": "" }, { "name": "gamma-tubulin binding", "id": "GO:0043015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043015", "evidence": [ { "database": "UniProtKB", "id": "O75665", "url": "https://www.uniprot.org/uniprot/O75665" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 11, "go_terms": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "O75665", "url": "https://www.uniprot.org/uniprot/O75665" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "O75665", "url": "https://www.uniprot.org/uniprot/O75665" } ], "pmid": "" }, { "name": "centrosome", "id": "GO:0005813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005813", "evidence": [ { "database": "UniProtKB", "id": "O75665", "url": "https://www.uniprot.org/uniprot/O75665" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "O75665", "url": "https://www.uniprot.org/uniprot/O75665" } ], "pmid": "" }, { "name": "cilium", "id": "GO:0005929", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005929", "evidence": [ { "database": "UniProtKB", "id": "O75665", "url": "https://www.uniprot.org/uniprot/O75665" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "O75665", "url": "https://www.uniprot.org/uniprot/O75665" } ], "pmid": "" }, { "name": "motile cilium", "id": "GO:0031514", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031514", "evidence": [ { "database": "UniProtKB", "id": "O75665", "url": "https://www.uniprot.org/uniprot/O75665" } ], "pmid": "" }, { "name": "microtubule cytoskeleton", "id": "GO:0015630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015630", "evidence": [ { "database": "UniProtKB", "id": "O75665", "url": "https://www.uniprot.org/uniprot/O75665" } ], "pmid": "" }, { "name": "centriole", "id": "GO:0005814", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005814", "evidence": [ { "database": "UniProtKB", "id": "O75665", "url": "https://www.uniprot.org/uniprot/O75665" } ], "pmid": "" }, { "name": "centriolar satellite", "id": "GO:0034451", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034451", "evidence": [ { "database": "UniProtKB", "id": "O75665", "url": "https://www.uniprot.org/uniprot/O75665" } ], "pmid": "" }, { "name": "ciliary basal body", "id": "GO:0036064", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036064", "evidence": [ { "database": "UniProtKB", "id": "O75665", "url": "https://www.uniprot.org/uniprot/O75665" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 2, "go_terms": [ { "name": "cilium assembly", "id": "GO:0060271", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060271", "evidence": [ { "database": "UniProtKB", "id": "O75665", "url": "https://www.uniprot.org/uniprot/O75665" } ], "pmid": "" }, { "name": "epithelial cilium movement involved in determination of left/right asymmetry", "id": "GO:0060287", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060287", "evidence": [ { "database": "UniProtKB", "id": "O75665", "url": "https://www.uniprot.org/uniprot/O75665" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 397, "end_pos": 399, "annotation": "n_glycosylation_sequon" }, { "start_pos": 681, "end_pos": 683, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [ { "annotation": "Phosphorylated. Phosphorylation at Ser-735, by the cAMP-dependent protein kinase PKA, triggers ubiquitination and proteasomal degradation of OFD1. Also increases its interaction with TBC1D31 and regulates its function in ciliogenesis.", "evidence": [ { "database": "UniProtKB", "id": "O75665", "url": "https://www.uniprot.org/uniprot/O75665" }, { "database": "PubMed", "id": "33934390", "url": "https://glygen.org/publication/PubMed/33934390" } ] }, { "annotation": "Ubiquitinated by PJA2, upon phosphorylation at Ser-735 by PKA, leads to the proteasomal degradation of OFD1.", "evidence": [ { "database": "UniProtKB", "id": "O75665", "url": "https://www.uniprot.org/uniprot/O75665" }, { "database": "PubMed", "id": "33934390", "url": "https://glygen.org/publication/PubMed/33934390" } ] } ], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "sequence_features": { "n_linked_sites": [], "o_linked_sites": [], "snv_sites": [ 165 ], "glycation_sites": [], "phosphorylation_sites": [ 171, 663, 669, 686, 720, 735, 736, 745, 774, 776, 789, 811 ], "sequon_annotation_sites": [ { "start_pos": 397, "end_pos": 399 }, { "start_pos": 681, "end_pos": 683 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 12 }, { "field": "total_sites", "count": 12 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 160 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }