{ "uniprot_canonical_ac": "O00755-1", "uniprot_ac": "O00755", "uniprot_id": "WNT7A_HUMAN", "mass": { "chemical_mass": 39005.0, "monoisotopic_mass": 39005.0 }, "refseq": { "ac": "NP_004616", "name": "protein Wnt-7a precursor", "summary": "This gene is a member of the WNT gene family, which consists of structurally related genes that encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is involved in the development of the anterior-posterior axis in the female reproductive tract, and also plays a critical role in uterine smooth muscle pattering and maintenance of adult uterine function. Mutations in this gene are associated with Fuhrmann and Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndromes. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004616" }, "gene_names": [ { "name": "WNT7A", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O00755", "id": "O00755" }, { "name": "WNT7A", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004616", "id": "NP_004616" }, { "name": "Wnt-7a", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004616", "id": "NP_004616" } ], "protein_names": [ { "name": "Protein Wnt-7a", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O00755" }, { "name": "protein Wnt-7a precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004616", "id": "NP_004616" }, { "name": "proto-oncogene Wnt7a protein; protein Wnt-7a; wingless-type MMTV integration site family, member 7A", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004616", "id": "NP_004616" } ], "function": [ { "annotation": "Association of Clinicopathologic and Molecular Tumor Features With Recurrence in Resected Early-Stage Epidermal Growth Factor Receptor-Positive Non-Small Cell Lung Cancer. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_004616", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004616" }, { "database": "PubMed", "id": "34739062", "url": "https://glygen.org/publication/PubMed/34739062" } ] }, { "annotation": "Down-regulated Wnt7a and GPR124 in early-onset preeclampsia placentas reduce invasion and migration of trophoblast cells. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_004616", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004616" }, { "database": "PubMed", "id": "37694534", "url": "https://glygen.org/publication/PubMed/37694534" } ] }, { "annotation": "Ligand for members of the frizzled family of seven transmembrane receptors that functions in the canonical Wnt/beta-catenin signaling pathway (By similarity). Plays an important role in embryonic development, including dorsal versus ventral patterning during limb development, skeleton development and urogenital tract development (PubMed:16826533). Required for central nervous system (CNS) angiogenesis and blood-brain barrier regulation (PubMed:30026314). Required for normal, sexually dimorphic development of the Mullerian ducts, and for normal fertility in both sexes (By similarity). Required for normal neural stem cell proliferation in the hippocampus dentate gyrus (By similarity). Required for normal progress through the cell cycle in neural progenitor cells, for self-renewal of neural stem cells, and for normal neuronal differentiation and maturation (By similarity). Promotes formation of synapses via its interaction with FZD5 (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "O00755", "url": "https://www.uniprot.org/uniprot/O00755#function" }, { "database": "PubMed", "id": "16826533", "url": "https://glygen.org/publication/PubMed/16826533" }, { "database": "UniProtKB", "id": "P24383", "url": "https://www.uniprot.org/uniprot/P24383#function" }, { "database": "PubMed", "id": "30026314", "url": "https://glygen.org/publication/PubMed/30026314" } ] }, { "annotation": "Molecular basis of Wnt biogenesis, secretion, and Wnt7-specific signaling.", "evidence": [ { "database": "RefSeq", "id": "NP_004616", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004616" }, { "database": "PubMed", "id": "37852257", "url": "https://glygen.org/publication/PubMed/37852257" } ] }, { "annotation": "Role of Stromal Fibroblast-Induced WNT7A Associated with Cancer Cell Migration Through the AKT/CLDN1 Signaling Axis in Oral Squamous Cell Carcinoma.", "evidence": [ { "database": "RefSeq", "id": "NP_004616", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004616" }, { "database": "PubMed", "id": "37541622", "url": "https://glygen.org/publication/PubMed/37541622" } ] }, { "annotation": "This gene is a member of the WNT gene family, which consists of structurally related genes that encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is involved in the development of the anterior-posterior axis in the female reproductive tract, and also plays a critical role in uterine smooth muscle pattering and maintenance of adult uterine function. Mutations in this gene are associated with Fuhrmann and Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndromes. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_004616", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004616" } ] }, { "annotation": "WNT7A promotes tumorigenesis of head and neck squamous cell carcinoma via activating FZD7/JAK1/STAT3 signaling. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_004616", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004616" }, { "database": "PubMed", "id": "38246919", "url": "https://glygen.org/publication/PubMed/38246919" } ] } ], "disease": [ { "disease_id": "DOID:0090067", "recommended_name": { "id": "DOID:0090067", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0090067", "name": "Fuhrmann syndrome", "description": "A bone development disease that is characterized by bowing of the femora, aplasia or hypoplasia of the fibulae and poly-, oligo-, and syndactyly that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the Wnt family member 7A (WNT7A) gene on chromosome 3p25." }, "synonyms": [ { "id": "MONDO:0009232", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009232", "name": "Fuhrmann syndrome", "description": "Fuhrmann syndrome is mainly characterized by bowing of the femora, aplasia or hypoplasia of the fibulae and poly-, oligo-, and syndactyly." }, { "id": "MONDO:0009232", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009232", "name": "Fuhrmann syndrome", "description": "" }, { "id": "MONDO:0009232", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009232", "name": "Fuhrmann-Rieger-de Sousa syndrome", "description": "" }, { "id": "MONDO:0009232", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009232", "name": "fibular hypoplasia or aplasia-femoral bowing-oligodactyly syndrome", "description": "" }, { "id": "MONDO:0009232", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009232", "name": "bowing of the femurs, aplasia or hypoplasia of the fibula, and digital anomalies", "description": "" }, { "id": "MONDO:0009232", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009232", "name": "fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly", "description": "" }, { "id": "MIM:228930", "resource": "MIM", "url": "https://www.omim.org/entry/228930", "name": "Fuhrmann syndrome", "description": "Fuhrmann syndrome" } ], "evidence": [ { "id": "228930", "database": "MIM", "url": "https://www.omim.org/entry/228930" } ] }, { "disease_id": "DOID:0112181", "recommended_name": { "id": "DOID:0112181", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112181", "name": "Schinzel type phocomelia", "description": "A syndrome characterized by severe malformations of upper and lower limbs,severely hypoplastic pelvis, and abnormal genitalia that has_material_basis_in homozygous or compound heterozygous mutation in the WNT7A gene on chromosome 3p25.1." }, "synonyms": [ { "id": "DOID:0112181", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112181", "name": "AARRS", "description": "" }, { "id": "DOID:0112181", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112181", "name": "LPHAS", "description": "" }, { "id": "DOID:0112181", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112181", "name": "Schinzel phocomelia syndrome", "description": "" }, { "id": "DOID:0112181", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112181", "name": "Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome", "description": "" }, { "id": "DOID:0112181", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112181", "name": "Al Awadi-Raas-Rothschild syndrome", "description": "" }, { "id": "DOID:0112181", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112181", "name": "aplasia/hypoplasia of limbs and pelvis", "description": "" }, { "id": "DOID:0112181", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112181", "name": "congenital absence of ulna and fibula", "description": "" }, { "id": "DOID:0112181", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112181", "name": "limb/pelvis-hypoplasia/aplasia syndrome", "description": "" }, { "id": "DOID:0112181", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112181", "name": "severe limb deficit", "description": "" }, { "id": "DOID:0112181", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112181", "name": "absence of ulna and fibula with severe limb deficiency", "description": "" }, { "id": "MONDO:0010164", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010164", "name": "phocomelia, Schinzel type", "description": "Schinzel phocomelia syndrome, also called limb/pelvis hypoplasia/aplasia syndrome, is characterized by skeletal malformations affecting the ulnae, pelvic bones, fibulae and femora. As the phenotype is similar to that described in the malformation syndrome known as Al-Awadi/Raas-Rothschild syndrome, they are thought to be the same disorder." }, { "id": "MONDO:0010164", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010164", "name": "Al Awadi-Raas-Rothschild syndrome", "description": "" }, { "id": "MONDO:0010164", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010164", "name": "aplasia/hypoplasia of limbs and pelvis", "description": "" }, { "id": "MONDO:0010164", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010164", "name": "congenital absence of ulna and fibula", "description": "" }, { "id": "MONDO:0010164", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010164", "name": "severe limb deficit", "description": "" }, { "id": "MONDO:0010164", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010164", "name": "AARRS", "description": "" }, { "id": "MONDO:0010164", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010164", "name": "Al Awadi Teebi Farag syndrome", "description": "" }, { "id": "MONDO:0010164", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010164", "name": "Al-Awadi-Raas-Rothschild syndrome", "description": "" }, { "id": "MONDO:0010164", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010164", "name": "Al-Awadi/Raas-Rothschild syndrome", "description": "" }, { "id": "MONDO:0010164", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010164", "name": "Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome", "description": "" }, { "id": "MONDO:0010164", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010164", "name": "Schinzel phocomelia syndrome", "description": "" }, { "id": "MONDO:0010164", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010164", "name": "Teebi Naguib Al Awadi syndrome", "description": "" }, { "id": "MONDO:0010164", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010164", "name": "absence of ulna and fibula with severe limb deficiency", "description": "" }, { "id": "MONDO:0010164", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010164", "name": "limb/pelvis-hypoplasia/aplasia syndrome", "description": "" }, { "id": "MONDO:0010164", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010164", "name": "profound limb deficiency, thoracic dystrophy, unusual facies, and normal intelligence", "description": "" }, { "id": "MONDO:0010164", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010164", "name": "ulna and fibula absence of with severe limb deficiency", "description": "" }, { "id": "MONDO:0010164", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010164", "name": "ulna and fibula, absence of, with severe limb deficiency", "description": "" }, { "id": "MIM:276820", "resource": "MIM", "url": "https://www.omim.org/entry/276820", "name": "Limb pelvis hypoplasia aplasia syndrome", "description": "Limb pelvis hypoplasia aplasia syndrome" } ], "evidence": [ { "id": "276820", "database": "MIM", "url": "https://www.omim.org/entry/276820" } ] } ], "snv": [ { "evidence": [ { "id": "rs1390234242", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1390234242" }, { "id": "rs1390234242", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1390234242" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 127, "end_pos": 127, "sequence_org": "N", "sequence_mut": "Y", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NLS->YLS).", "chr_id": "3", "chr_pos": "13854723", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N127", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs754371681", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754371681" }, { "id": "rs754371681", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754371681" }, { "id": "rs754371681", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs754371681" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 129, "end_pos": 129, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NLS->NLN).", "chr_id": "3", "chr_pos": "13854716", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S129", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs144536868", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs144536868" }, { "id": "rs144536868", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs144536868" }, { "id": "rs144536868", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs144536868#frequency_tab" }, { "id": "rs144536868", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs144536868" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 129, "end_pos": 129, "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NLS->NLR).", "chr_id": "3", "chr_pos": "13854715", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S129", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O00755", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O00755" } ], "glycoeffect": [], "start_pos": 130, "end_pos": 130, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "3", "chr_pos": "13854714", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D130", "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" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": 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"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, 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"description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "No", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O00755", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00755" } ], "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": 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{ "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 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"description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O00755", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00755" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", 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Wnt-7a OS=Homo sapiens OX=9606 GN=WNT7A PE=1 SV=2 CANONICAL=O00755-1" }, "locus": { "chromosome": "3", "start_pos": 13879816, "end_pos": 13818947, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000285018.5", "url": "https://www.ensembl.org/id/ENST00000285018.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000285018.4", "url": "https://www.ensembl.org/id/ENSP00000285018.4" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 127, "start_aa": "Asn", "end_pos": 127, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn127", "evidence": [ { "id": "O00755", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O00755#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 295, "start_aa": "Asn", "end_pos": 295, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn295", "evidence": [ { "id": "O00755", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O00755#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 83, "start_aa": "Asn", "end_pos": 83, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn83", "evidence": [ { "id": "O00755", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O00755#ptm_processing" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_predicted" ], "publication": [ { "title": "Biochemical characterization of Wnt-frizzled interactions using a soluble, biologically active vertebrate Wnt protein.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1999", "authors": "Hsieh JC, Rattner A, Smallwood PM, Nathans J", "evidence": [ { "database": "Reactome", "id": "R-HSA-373080", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-373080" } ], "reference": [ { "type": "PubMed", "id": "10097073", "url": "https://glygen.org/publication/PubMed/10097073" } ] }, { "title": "A superfamily of membrane-bound O-acyltransferases with implications for wnt signaling.", "journal": "Trends in biochemical sciences", "date": "2000", "authors": "Hofmann K", "evidence": [ { "database": "Reactome", "id": "R-HSA-3238698", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3238698" } ], "reference": [ { "type": "PubMed", "id": "10694878", "url": "https://glygen.org/publication/PubMed/10694878" } ] }, { "title": "Secretory protein trafficking and organelle dynamics in living cells.", "journal": "Annual review of cell and developmental biology", "date": "2000", "authors": "Lippincott-Schwartz J, Roberts TH, Hirschberg K", "evidence": [ { "database": "Reactome", "id": "R-HSA-3238698", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3238698" } ], "reference": [ { "type": "PubMed", "id": "11031247", "url": "https://glygen.org/publication/PubMed/11031247" } ] }, { "title": "Membrane transport: retromer to the rescue.", "journal": "Current biology : CB", "date": "2001", "authors": "Pfeffer SR", "evidence": [ { "database": "Reactome", "id": "R-HSA-3238698", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3238698" } ], "reference": [ { "type": "PubMed", "id": "11231171", "url": "https://glygen.org/publication/PubMed/11231171" } ] }, { "title": "Molecular analysis of the epidermal growth factor-like short consensus repeat domain-mediated protein-protein interactions: dissection of the CD97-CD55 complex.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Lin HH, Stacey M, Saxby C, Knott V, Chaudhry Y, Evans D, Gordon S, McKnight AJ, Handford P, Lea S", "evidence": [ { "database": "Reactome", "id": "R-HSA-373080", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-373080" } ], "reference": [ { "type": "PubMed", "id": "11297558", "url": "https://glygen.org/publication/PubMed/11297558" } ] }, { "title": "SNX3 regulates endosomal function through its PX-domain-mediated interaction with PtdIns(3)P.", "journal": "Nature cell biology", "date": "2001", "authors": "Xu Y, Hortsman H, Seet L, Wong SH, Hong W", "evidence": [ { "database": "Reactome", "id": "R-HSA-3238698", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3238698" } ], "reference": [ { "type": "PubMed", "id": "11433298", "url": "https://glygen.org/publication/PubMed/11433298" } ] }, { "title": "Characterization of the human and mouse genes encoding the tuberoinfundibular peptide of 39 residues, a ligand of the parathyroid hormone receptor family.", "journal": "The Journal of endocrinology", "date": "2002", "authors": "Hansen IA, Jakob O, Wortmann S, Arzberger T, Allolio B, Blind E", "evidence": [ { "database": "Reactome", "id": "R-HSA-373080", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-373080" } ], "reference": [ { "type": "PubMed", "id": "12098667", "url": "https://glygen.org/publication/PubMed/12098667" } ] }, { "title": "Tuberoinfundibular peptide of 39 residues (TIP39): molecular structure and activity for parathyroid hormone 2 receptor.", "journal": "Neuropharmacology", "date": "2003", "authors": "Della Penna K, Kinose F, Sun H, Koblan KS, Wang H", "evidence": [ { "database": "Reactome", "id": "R-HSA-373080", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-373080" } ], "reference": [ { "type": "PubMed", "id": "12559132", "url": "https://glygen.org/publication/PubMed/12559132" } ] }, { "title": "Wnt proteins are lipid-modified and can act as stem cell growth factors.", "journal": "Nature", "date": "2003", "authors": "Willert K, Brown JD, Danenberg E, Duncan AW, Weissman IL, Reya T, Yates JR 3rd, Nusse R", "evidence": [ { "database": "Reactome", "id": "R-HSA-3238698", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3238698" } ], "reference": [ { "type": "PubMed", "id": "12717451", "url": "https://glygen.org/publication/PubMed/12717451" } ] }, { "title": "Expression of the largest CD97 and EMR2 isoforms on leukocytes facilitates a specific interaction with chondroitin sulfate on B cells.", "journal": "Journal of leukocyte biology", "date": "2005", "authors": "Kwakkenbos MJ, Pouwels W, Matmati M, Stacey M, Lin HH, Gordon S, van Lier RA, Hamann J", "evidence": [ { "database": "Reactome", "id": "R-HSA-373080", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-373080" } ], "reference": [ { "type": "PubMed", "id": "15498814", "url": "https://glygen.org/publication/PubMed/15498814" } ] }, { "title": "Release and trafficking of lipid-linked morphogens.", "journal": "Current opinion in genetics & development", "date": "2006", "authors": "Eaton S", "evidence": [ { "database": "Reactome", "id": "R-HSA-3238698", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3238698" } ], "reference": [ { "type": "PubMed", "id": "16364628", "url": "https://glygen.org/publication/PubMed/16364628" } ] }, { "title": "Purified Wnt5a protein activates or inhibits beta-catenin-TCF signaling depending on receptor context.", "journal": "PLoS biology", "date": "2006", "authors": "Mikels AJ, Nusse R", "evidence": [ { "database": "Reactome", "id": "R-HSA-373080", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-373080" } ], "reference": [ { "type": "PubMed", "id": "16602827", "url": "https://glygen.org/publication/PubMed/16602827" } ] }, { "title": "Wnt gradient formation requires retromer function in Wnt-producing cells.", "journal": "Science (New York, N.Y.)", "date": "2006", "authors": "Coudreuse DY, Roel G, Betist MC, Destree O, Korswagen HC", "evidence": [ { "database": "Reactome", "id": "R-HSA-3238698", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3238698" } ], "reference": [ { "type": "PubMed", "id": "16645052", "url": "https://glygen.org/publication/PubMed/16645052" } ] }, { "title": "Wntless, a conserved membrane protein dedicated to the secretion of Wnt proteins from signaling cells.", "journal": "Cell", "date": "2006", "authors": "Banziger C, Soldini D, Schutt C, Zipperlen P, Hausmann G, Basler K", "evidence": [ { "database": "Reactome", "id": "R-HSA-3238698", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3238698" } ], "reference": [ { "type": "PubMed", "id": "16678095", "url": "https://glygen.org/publication/PubMed/16678095" } ] }, { "title": "Secretion of Wnt ligands requires Evi, a conserved transmembrane protein.", "journal": "Cell", "date": "2006", "authors": "Bartscherer K, Pelte N, Ingelfinger D, Boutros M", "evidence": [ { "database": "Reactome", "id": "R-HSA-3238698", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3238698" } ], "reference": [ { "type": "PubMed", "id": "16678096", "url": "https://glygen.org/publication/PubMed/16678096" } 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"NP_004616", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004616" } ], "reference": [ { "type": "PubMed", "id": "37852257", "url": "https://glygen.org/publication/PubMed/37852257" } ] }, { "title": "WNT7A promotes tumorigenesis of head and neck squamous cell carcinoma via activating FZD7/JAK1/STAT3 signaling.", "journal": "International journal of oral science", "date": "2024-01-22", "authors": "Huang Qingling, Xiao Yi, Lan Ting, Lu Youguang, Huang Li, Zheng Dali", "evidence": [ { "database": "RefSeq", "id": "NP_004616", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004616" } ], "reference": [ { "type": "PubMed", "id": "38246919", "url": "https://glygen.org/publication/PubMed/38246919" } ] }, { "title": "Nucleotide sequence of cloned cDNAs encoding human preproparathyroid hormone.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1981", "authors": "Hendy GN, Kronenberg HM, Potts JT Jr, Rich A", "evidence": [ { "database": "Reactome", "id": "R-HSA-373080", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-373080" } ], "reference": [ { "type": "PubMed", "id": "6950381", "url": "https://glygen.org/publication/PubMed/6950381" } ] }, { "title": "Identification and functional expression of a receptor selectively recognizing parathyroid hormone, the PTH2 receptor.", "journal": "The Journal of biological chemistry", "date": "1995", "authors": "Usdin TB, Gruber C, Bonner TI", "evidence": [ { "database": "Reactome", "id": "R-HSA-373080", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-373080" } ], "reference": [ { "type": "PubMed", "id": "7797535", "url": "https://glygen.org/publication/PubMed/7797535" } ] }, { "title": "A C-terminally truncated human parathyroid hormone receptor is functional and activates multiple G proteins.", "journal": "FEBS letters", "date": "1994", "authors": "Schneider H, Feyen JH, Seuwen K", "evidence": [ { "database": "Reactome", "id": "R-HSA-373080", "url": 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"https://www.uniprot.org/uniprot/O00755" } ], "reference": [ { "type": "PubMed", "id": "8168088", "url": "https://glygen.org/publication/PubMed/8168088" } ] }, { "title": "Cloning and structure of the human corticotrophin releasing factor-binding protein gene (CRHBP)", "journal": "Genomics", "date": "1993", "authors": "Behan DP, Potter E, Lewis KA, Jenkins NA, Copeland N, Lowry PJ, Vale WW", "evidence": [ { "database": "Reactome", "id": "R-HSA-373080", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-373080" } ], "reference": [ { "type": "PubMed", "id": "8198617", "url": "https://glygen.org/publication/PubMed/8198617" } ] }, { "title": "Mutations in the segment polarity genes wingless and porcupine impair secretion of the wingless protein.", "journal": "The EMBO journal", "date": "1993", "authors": "van den Heuvel M, Harryman-Samos C, Klingensmith J, Perrimon N, Nusse R", "evidence": [ { "database": "Reactome", "id": "R-HSA-3238698", "url": 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Cell Genet.", "date": "1996", "authors": "Ikegawa S, Kumano Y, Okui K, Fujiwara T, Takahashi E, Nakamura Y", "evidence": [ { "database": "UniProtKB", "id": "O00755", "url": "https://www.uniprot.org/uniprot/O00755" } ], "reference": [ { "type": "PubMed", "id": "8893824", "url": "https://glygen.org/publication/PubMed/8893824" } ] }, { "title": "The tumour-suppressor gene patched encodes a candidate receptor for Sonic hedgehog.", "journal": "Nature", "date": "1996", "authors": "Stone DM, Hynes M, Armanini M, Swanson TA, Gu Q, Johnson RL, Scott MP, Pennica D, Goddard A, Phillips H, Noll M, Hooper JE, de Sauvage F, Rosenthal A", "evidence": [ { "database": "Reactome", "id": "R-HSA-373080", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-373080" } ], "reference": [ { "type": "PubMed", "id": "8906787", "url": "https://glygen.org/publication/PubMed/8906787" } ] }, { "title": "The segment polarity gene porcupine encodes a putative multitransmembrane protein involved in Wingless processing.", "journal": "Genes & development", "date": "1996", "authors": "Kadowaki T, Wilder E, Klingensmith J, Zachary K, Perrimon N", "evidence": [ { "database": "Reactome", "id": "R-HSA-3238698", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3238698" } ], "reference": [ { "type": "PubMed", "id": "8985181", "url": "https://glygen.org/publication/PubMed/8985181" } ] }, { "title": "The seven-span transmembrane receptor CD97 has a cellular ligand (CD55, DAF).", "journal": "The Journal of experimental medicine", "date": "1996", "authors": "Hamann J, Vogel B, van Schijndel GM, van Lier RA", "evidence": [ { "database": "Reactome", "id": "R-HSA-373080", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-373080" } ], "reference": [ { "type": "PubMed", "id": "9064337", "url": "https://glygen.org/publication/PubMed/9064337" } ] }, { "title": "Isolation of a full-length human WNT7A gene implicated in limb development and cell transformation, and mapping to chromosome 3p25.", 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