{ "uniprot_canonical_ac": "O60486-1", "uniprot_ac": "O60486", "uniprot_id": "PLXC1_HUMAN", "mass": { "chemical_mass": 175742.0, "monoisotopic_mass": 175742.0 }, "refseq": { "ac": "NP_005752", "name": "plexin-C1 precursor", "summary": "This gene encodes a member of the plexin family. Plexins are transmembrane receptors for semaphorins, a large family of proteins that regulate axon guidance, cell motility and migration, and the immune response. The encoded protein and its ligand regulate melanocyte adhesion, and viral semaphorins may modulate the immune response by binding to this receptor. The encoded protein may be a tumor suppressor protein for melanoma. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jan 2011].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005752" }, "gene_names": [ { "name": "PLXNC1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O60486", "id": "O60486" }, { "name": "CD232; PLXN-C1; VESPR", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005752", "id": "NP_005752" }, { "name": "PLXNC1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005752", "id": "NP_005752" }, { "name": "VESPR", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O60486", "id": "O60486" } ], "protein_names": [ { "name": "Plexin-C1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O60486" }, { "name": "Virus-encoded semaphorin protein receptor", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O60486" }, { "name": "plexin-C1 precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005752", "id": "NP_005752" }, { "name": "receptor for virally-encoded semaphorin; plexin (semaphorin receptor); receptor for viral semaphorin protein; virus-encoded semaphorin protein receptor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005752", "id": "NP_005752" } ], "function": [ { "annotation": "GTP-bound form of Rab7 promotes melanogenesis through the regulation of gp100 maturation in melanoma cells.", "evidence": [ { "database": "RefSeq", "id": "NP_005752", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005752" }, { "database": "PubMed", "id": "17671519", "url": "https://glygen.org/publication/PubMed/17671519" } ] }, { "annotation": "PLXNC1 interference alleviates the inflammatory injury, apoptosis and extracellular matrix degradation of IL-1beta-exposed chondrocytes via suppressing GRP78 expression. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_005752", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005752" }, { "database": "PubMed", "id": "37853395", "url": "https://glygen.org/publication/PubMed/37853395" } ] }, { "annotation": "Plexin C1 deficiency permits synaptotagmin 7-mediated macrophage migration and enhances mammalian lung fibrosis", "evidence": [ { "database": "RefSeq", "id": "NP_005752", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005752" }, { "database": "PubMed", "id": "27609773", "url": "https://glygen.org/publication/PubMed/27609773" } ] }, { "annotation": "Receptor for SEMA7A, for smallpox semaphorin A39R, vaccinia virus semaphorin A39R and for herpesvirus Sema protein. Binding of semaphorins triggers cellular responses leading to the rearrangement of the cytoskeleton and to secretion of IL6 and IL8 (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "O60486", "url": "https://www.uniprot.org/uniprot/O60486#function" }, { "database": "PubMed", "id": "20727575", "url": "https://glygen.org/publication/PubMed/20727575" } ] }, { "annotation": "Results indicate that long non-coding RNA (lncRNA) CASC2 can promote PLXNC1 expression by sponging miR-181a, thereby inhibiting the proliferation and invasion of melanoma cells.", "evidence": [ { "database": "RefSeq", "id": "NP_005752", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005752" }, { "database": "PubMed", "id": "29514220", "url": "https://glygen.org/publication/PubMed/29514220" } ] }, { "annotation": "Results indicated that PLXNC1 was a direct target of miR-4500. Its knockdown inhibits proliferation and invasion of papillary thyroid cancer (PTC) cells. On the contrary, its overexpression of impairs miR-4500-induced inhibition of PTC malignancy.", "evidence": [ { "database": "RefSeq", "id": "NP_005752", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005752" }, { "database": "PubMed", "id": "31317324", "url": "https://glygen.org/publication/PubMed/31317324" } ] }, { "annotation": "The Relationship Between Plexin C1 Overexpression and Survival in Hepatocellular Carcinoma: a Turkish Oncology Group (TOG) Study.", "evidence": [ { "database": "RefSeq", "id": "NP_005752", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005752" }, { "database": "PubMed", "id": "33656690", "url": "https://glygen.org/publication/PubMed/33656690" } ] }, { "annotation": "This gene encodes a member of the plexin family. Plexins are transmembrane receptors for semaphorins, a large family of proteins that regulate axon guidance, cell motility and migration, and the immune response. The encoded protein and its ligand regulate melanocyte adhesion, and viral semaphorins may modulate the immune response by binding to this receptor. The encoded protein may be a tumor suppressor protein for melanoma. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jan 2011].", "evidence": [ { "database": "RefSeq", "id": "NP_005752", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005752" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "O60486", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O60486" } ], "glycoeffect": [], "start_pos": 1204, "end_pos": 1204, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "V", "sequence_mut": "I", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "12", "chr_pos": "94279484", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "V1204", "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": "" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs940056690", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs940056690" }, { "id": "rs940056690", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs940056690#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1273, "end_pos": 1273, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DSS->NSS).", "chr_id": "12", "chr_pos": "94282339", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D1273", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs901096871", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs901096871" }, { "id": "rs901096871", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs901096871" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 1274, "end_pos": 1274, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SSS->NSS).", "chr_id": "12", "chr_pos": "94282343", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1274", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1465641590", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1465641590" }, { "id": "rs1465641590", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1465641590#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 1308, "end_pos": 1308, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NFT->SFT).", "chr_id": "12", "chr_pos": "94294529", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N1308", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O60486", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O60486" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 1308, "end_pos": 1308, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "N", "sequence_mut": "T", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NFT->TFT).", "chr_id": "12", "chr_pos": "94294529", "ref_nt": "A", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "N1308", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "O60486", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O60486" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1399, "end_pos": 1399, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "K", "sequence_mut": "T", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (NKK->NKT).", "chr_id": "12", "chr_pos": "94298753", "ref_nt": "A", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "K1399", "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, 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"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": "O60486", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60486" } ], "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": "O60486", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60486" } ], "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": 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60486" } ], "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": 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"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 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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 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 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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": "O60486", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60486" } ], "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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}, { "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": "O60486", "url": "https://www.uniprot.org/uniprot/O60486" } ], "common_name": "Human" } ], "gene": [ { "name": "PLXNC1", "url": "https://www.uniprot.org/uniprot/O60486", "locus": { "chromosome": "12", "start_pos": 94307675, "end_pos": 94148577, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000136040", "url": "https://www.ensembl.org/id/ENSG00000136040" } ] } } ], "crossref": [ { "id": "ENSG00000136040", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136040", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "O60486", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O60486", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "cd00102", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd00102", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "cd11246", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd11246", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "cd12789", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd12789", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "PLXNC1", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNC1", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "10154", "url": "https://www.ncbi.nlm.nih.gov/gene/10154", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "725", "url": "https://glyconnect.expasy.org/browser/proteins/725", "database": "GlyConnect", "categories": [ "Glycoproteomics", "Glycan" ] }, { "id": "9106", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=9106", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "O60486", "url": "https://www.ebi.ac.uk/intact/interactors/id:O60486*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR001627", "url": "https://www.ebi.ac.uk/interpro/entry/IPR001627", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR002165", "url": "https://www.ebi.ac.uk/interpro/entry/IPR002165", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR002909", "url": "https://www.ebi.ac.uk/interpro/entry/IPR002909", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR008936", "url": "https://www.ebi.ac.uk/interpro/entry/IPR008936", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR013548", "url": "https://www.ebi.ac.uk/interpro/entry/IPR013548", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR013783", "url": "https://www.ebi.ac.uk/interpro/entry/IPR013783", "database": "InterPro", "categories": [ "Protein Classification" ] }, { 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Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "604259", "url": "http://www.omim.org/entry/604259", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O60486", "url": "https://www.nextprot.org/entry/NX_O60486", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "O60486", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60486", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "TYCRFLA", "url": "https://omabrowser.org/oma/group/TYCRFLA/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "1387371at2759", "url": "http://www.orthodb.org/?query=1387371at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR22625", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR22625", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR22625:SF4", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR22625:SF4", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "3KUZ", "url": "https://www.rcsb.org/structure/3KUZ", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3NVN", "url": "https://www.rcsb.org/structure/3NVN", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3NVQ", "url": "https://www.rcsb.org/structure/3NVQ", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6VXK", "url": "https://www.rcsb.org/structure/6VXK", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF01437", "url": "http://pfam.xfam.org/family/PF01437", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF01833", "url": "http://pfam.xfam.org/family/PF01833", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF08337", "url": "http://pfam.xfam.org/family/PF08337", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF20170", "url": "http://pfam.xfam.org/family/PF20170", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O60486", "url": "https://pharos.nih.gov/targets/O60486", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR:000050775", "url": "https://proconsortium.org/app/entry/PR:000050775", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000050776", "url": "https://proconsortium.org/app/entry/PR:000050776", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000050777", "url": "https://proconsortium.org/app/entry/PR:000050777", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000050778", "url": "https://proconsortium.org/app/entry/PR:000050778", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000050779", "url": "https://proconsortium.org/app/entry/PR:000050779", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000050780", "url": "https://proconsortium.org/app/entry/PR:000050780", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000050781", "url": "https://proconsortium.org/app/entry/PR:000050781", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR_O60486", "url": "http://purl.obolibrary.org/obo/PR_O60486", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-416700", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-416700", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_005752", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005752", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "O60486", "url": "DISABLED", "database": "UniCarbKB", "categories": [ "Glycoproteomics" ] }, { "id": "B4DHQ7", "url": "https://www.uniprot.org/uniprot/B4DHQ7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "B4DHQ7-1", "url": "https://www.uniprot.org/uniprot/B4DHQ7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F5H3A2", "url": "https://www.uniprot.org/uniprot/F5H3A2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F5H3A2-1", "url": "https://www.uniprot.org/uniprot/F5H3A2-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8VUW4", "url": "https://www.uniprot.org/uniprot/F8VUW4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8VUW4-1", "url": "https://www.uniprot.org/uniprot/F8VUW4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8W095", "url": "https://www.uniprot.org/uniprot/F8W095", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8W095-1", "url": "https://www.uniprot.org/uniprot/F8W095-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8W1K6", "url": "https://www.uniprot.org/uniprot/F8W1K6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8W1K6-1", "url": "https://www.uniprot.org/uniprot/F8W1K6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O60486", "url": "https://www.uniprot.org/uniprot/O60486", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O60486-1", "url": "https://www.uniprot.org/uniprot/O60486-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MEVSRRKAPPRPPRPAAPLPLLAYLLALAAPGRGADEPVWRSEQAIGAIAASQEDGVFVASGSCLDQLDYSLEHSLSRLYRDQAGNCTEPVSLAPPARPRPGSSFSKLLLPYREGAAGLGGLLLTGWTFDRGACEVRPLGNLSRNSLRNGTEVVSCHPQGSTAGVVYRAGRNNRWYLAVAATYVLPEPETASRCNPAASDHDTAIALKDTEGRSLATQELGRLKLCEGAGSLHFVDAFLWNGSIYFPYYPYNYTSGAATGWPSMARIAQSTEVLFQGQASLDCGHGHPDGRRLLLSSSLVEALDVWAGVFSAAAGEGQERRSPTTTALCLFRMSEIQARAKRVSWDFKTAESHCKEGDQPERVQPIASSTLIHSDLTSVYGTVVMNRTVLFLGTGDGQLLKVILGENLTSNCPEVIYEIKEETPVFYKLVPDPVKNIYIYLTAGKEVRRIRVANCNKHKSCSECLTATDPHCGWCHSLQRCTFQGDCVHSENLENWLDISSGAKKCPKIQIIRSSKEKTTVTMVGSFSPRHSKCMVKNVDSSRELCQNKSQPNRTCTCSIPTRATYKDVSVVNVMFSFGSWNLSDRFNFTNCSSLKECPACVETGCAWCKSARRCIHPFTACDPSDYERNQEQCPVAVEKTSGGGRPKENKGNRTNQALQVFYIKSIEPQKVSTLGKSNVIVTGANFTRASNITMILKGTSTCDKDVIQVSHVLNDTHMKFSLPSSRKEMKDVCIQFDGGNCSSVGSLSYIALPHCSLIFPATTWISGGQNITMMGRNFDVIDNLIISHELKGNINVSEYCVATYCGFLAPSLKSSKVRTNVTVKLRVQDTYLDCGTLQYREDPRFTGYRVESEVDTELEVKIQKENDNFNISKKDIEITLFHGENGQLNCSFENITRNQDLTTILCKIKGIKTASTIANSSKKVRVKLGNLELYVEQESVPSTWYFLIVLPVLLVIVIFAAVGVTRHKSKELSRKQSQQLELLESELRKEIRDGFAELQMDKLDVVDSFGTVPFLDYKHFALRTFFPESGGFTHIFTEDMHNRDANDKNESLTALDALICNKSFLVTVIHTLEKQKNFSVKDRCLFASFLTIALQTKLVYLTSILEVLTRDLMEQCSNMQPKLMLRRTESVVEKLLTNWMSVCLSGFLRETVGEPFYLLVTTLNQKINKGPVDVITCKALYTLNEDWLLWQVPEFSTVALNVVFEKIPENESADVCRNISVNVLDCDTIGQAKEKIFQAFLSKNGSPYGLQLNEIGLELQMGTRQKELLDIDSSSVILEDGITKLNTIGHYEISNGSTIKVFKKIANFTSDVEYSDDHCHLILPDSEAFQDVQGKRHRGKHKFKVKEMYLTKLLSTKVAIHSVLEKLFRSIWSLPNSRAPFAIKYFFDFLDAQAENKKITDPDVVHIWKTNSLPLRFWVNILKNPQFVFDIKKTPHIDGCLSVIAQAFMDAFSLTEQQLGKEAPTNKLLYAKDIPTYKEEVKSYYKAIRDLPPLSSSEMEEFLTQESKKHENEFNEEVALTEIYKYIVKYFDEILNKLERERGLEEAQKQLLHVKVLFDEKKKCKWM", "length": 1568, "header": "sp|O60486-1|PLXC1_HUMAN Isoform 1 of Plexin-C1 OS=Homo sapiens OX=9606 GN=PLXNC1 PE=1 SV=1 CANONICAL=O60486-1" }, "isoforms": [ { "isoform_ac": "B4DHQ7-1", "url": "", "sequence": { "sequence": "MQHLCLLAAVGVTRHKSKELSRKQSQQLELLESELRKEIRDGFAELQMDKLDVVDSFGTVPFLDYKHFALRTFFPESGGFTHIFTEDMHNRDANDKNESLTALDALICNKSFLVTVIHTLEKQKNFSVKDRCLFASFLTIALQTKLVYLTSILEVLTRDLMEQCSNMQPKLMLRRTESVVEKLLTNWMSVCLSGFLRETVGEPFYLLVTTLNQKINKGPVDVITCKALYTLNEDWLLWQVPEFSTVALNVVFEKIPENESADVCRNISVNVLDCDTIGQAKEKIFQAFLSKNGSPYGLQLNEIGLELQMGTRQKELLDIDSSSVILEDGITKLNTIGHYEISNGSTIKVFKKIANFTSDVEYSDDHCHLILPDSEAFQDVQGKRHRGKHKFKVKEMYLTKLLSTKVAIHSVLEKLFRSIWSLPNSRAPFAIKYFFDFLDAQAENKKITDPDVVHIWKTNSLPLRFWVNILKNPQFVFDIKKTPHIDGCLSVIAQAFMDAFSLTEQQLGKEAPTNKLLYAKDIPTYKEEVKSYYKAIRDLPPLSSSEMEEFLTQESKKHENEFNEEVALTEIYKYIVKYFDEILNKLERERGLEEAQKQLLHVKVLFDEKKKCKWM", "length": 615, "header": "tr|B4DHQ7-1|B4DHQ7_HUMAN Computationally mapped isoform of cDNA FLJ60256, highly similar to Plexin-C1 OS=Homo sapiens OX=9606 GN=PLXNC1 PE=1 SV=1 CANONICAL=O60486-1" }, "locus": { "chromosome": "12", "start_pos": 94305282, "end_pos": 94254765, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000547057.5", "url": "https://www.ensembl.org/id/ENST00000547057.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000446720.1", "url": "https://www.ensembl.org/id/ENSP00000446720.1" } ] } }, { "isoform_ac": "F5H3A2-1", "url": "", "sequence": { "sequence": "MGTRQKELLDIDSSSVILEDGITKLNTIGHYEISNGSTIKVFKKIANFTSDVEYSDDHCHLILPDSEAFQDVQGKRHRGKHKFKVKEMYLTKLLSTKVAIHSVLEKLFRSIWSLPNSRAPFAIKYFFDFLDAQAENKKITDPDVVHIWKTNSLPLRFWVNILKNPQFVFDIKKTPHIDGCLSVIAQAFMDAFSLTEQQLGKEAPTNKLLYAKDIPTYKEEVKSYYKAIRDLPPLSSSEMEEFLTQESKKHENEFNEEVALTEIYKYIVKYFDEILNKLERERGLEEAQKQLLHVKVLFDEKKKCKWM", "length": 307, "header": "tr|F5H3A2-1|F5H3A2_HUMAN Computationally mapped isoform of Plexin C1 OS=Homo sapiens OX=9606 GN=PLXNC1 PE=1 SV=1 CANONICAL=O60486-1" }, "locus": { "chromosome": "12", "start_pos": 94305282, "end_pos": 94282306, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000545312.1", "url": "https://www.ensembl.org/id/ENST00000545312.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000439225.1", "url": "https://www.ensembl.org/id/ENSP00000439225.1" } ] } }, { "isoform_ac": "F8VUW4-1", "url": "", "sequence": { "sequence": "MNRTVLFLGTGDGQLLKVILGENLTSNCPEVIYEIKEETPVFYKLVPDPVKNIYIYLTAGKEVRRIRVANCNKHKSCSECLTATDPHCGWCHSLQRCTFQGDCVHSENL", "length": 109, "header": "tr|F8VUW4-1|F8VUW4_HUMAN Computationally mapped isoform of Plexin C1 OS=Homo sapiens OX=9606 GN=PLXNC1 PE=1 SV=1 CANONICAL=O60486-1" }, "locus": { "chromosome": "12", "start_pos": 94209629, "end_pos": 94169243, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000551850.1", "url": "https://www.ensembl.org/id/ENST00000551850.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000447843.1", "url": "https://www.ensembl.org/id/ENSP00000447843.1" } ] } }, { "isoform_ac": "F8W095-1", "url": "", "sequence": { "sequence": "MQHLCLLAAVGVTRHKSKELSRKQSQQLELLESELRKEIRDGFAELQMDKLDVVDSFGTVPFLDYKHFALRTFFPENRDANDKNESLTALDALICNKSFLVTV", "length": 103, "header": "tr|F8W095-1|F8W095_HUMAN Computationally mapped isoform of Plexin C1 OS=Homo sapiens OX=9606 GN=PLXNC1 PE=1 SV=1 CANONICAL=O60486-1" }, "locus": { "chromosome": "12", "start_pos": 94259690, "end_pos": 94254765, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000550080.5", "url": "https://www.ensembl.org/id/ENST00000550080.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000447625.1", "url": "https://www.ensembl.org/id/ENSP00000447625.1" } ] } }, { "isoform_ac": "F8W1K6-1", "url": "", "sequence": { "sequence": "MTAVGVTRHKSKELSRKQSQQLELLESELRKEIRDGFAELQMDKLDVVDSFGTVPFLDYKHFALRTFFPESGGFTHIFTEDMHNRDANDKNESLTALDALICNKSFLVTVIHTLEKQKNFSVKDRCLFASFLTIALQTKLVYLTSILEVLTRDLMEQCSNMQPKLMLRRTESVVEKLLTNWMSVCLSGFLRETVGEPFYLLVTTLNQKINKGPVDVITCKALYTLNEDWLLWQVPEFSTVALNVVFEKIPENESADVCRNISVNVLDCDTIGQAKEKIFQAFLSKNGSPYGLQLNEIGLELQMGTRQKELLDIDSSSVILEDGITKLNTIGHYEISNGSTIKVFKKIANFTSDVEYSDDHCHLILPDSEAFQDVQGKRHRGKHKFKVKEMYLTKLLSTKPSSSLLGKHPEEPSVCL", "length": 416, "header": "tr|F8W1K6-1|F8W1K6_HUMAN Computationally mapped isoform of Plexin C1 OS=Homo sapiens OX=9606 GN=PLXNC1 PE=1 SV=1 CANONICAL=O60486-1" }, "locus": { "chromosome": "12", "start_pos": 94300960, "end_pos": 94254537, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000549217.5", "url": "https://www.ensembl.org/id/ENST00000549217.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000446781.1", "url": "https://www.ensembl.org/id/ENSP00000446781.1" } ] } }, { "isoform_ac": "O60486-1", "url": "", "sequence": { "sequence": "MEVSRRKAPPRPPRPAAPLPLLAYLLALAAPGRGADEPVWRSEQAIGAIAASQEDGVFVASGSCLDQLDYSLEHSLSRLYRDQAGNCTEPVSLAPPARPRPGSSFSKLLLPYREGAAGLGGLLLTGWTFDRGACEVRPLGNLSRNSLRNGTEVVSCHPQGSTAGVVYRAGRNNRWYLAVAATYVLPEPETASRCNPAASDHDTAIALKDTEGRSLATQELGRLKLCEGAGSLHFVDAFLWNGSIYFPYYPYNYTSGAATGWPSMARIAQSTEVLFQGQASLDCGHGHPDGRRLLLSSSLVEALDVWAGVFSAAAGEGQERRSPTTTALCLFRMSEIQARAKRVSWDFKTAESHCKEGDQPERVQPIASSTLIHSDLTSVYGTVVMNRTVLFLGTGDGQLLKVILGENLTSNCPEVIYEIKEETPVFYKLVPDPVKNIYIYLTAGKEVRRIRVANCNKHKSCSECLTATDPHCGWCHSLQRCTFQGDCVHSENLENWLDISSGAKKCPKIQIIRSSKEKTTVTMVGSFSPRHSKCMVKNVDSSRELCQNKSQPNRTCTCSIPTRATYKDVSVVNVMFSFGSWNLSDRFNFTNCSSLKECPACVETGCAWCKSARRCIHPFTACDPSDYERNQEQCPVAVEKTSGGGRPKENKGNRTNQALQVFYIKSIEPQKVSTLGKSNVIVTGANFTRASNITMILKGTSTCDKDVIQVSHVLNDTHMKFSLPSSRKEMKDVCIQFDGGNCSSVGSLSYIALPHCSLIFPATTWISGGQNITMMGRNFDVIDNLIISHELKGNINVSEYCVATYCGFLAPSLKSSKVRTNVTVKLRVQDTYLDCGTLQYREDPRFTGYRVESEVDTELEVKIQKENDNFNISKKDIEITLFHGENGQLNCSFENITRNQDLTTILCKIKGIKTASTIANSSKKVRVKLGNLELYVEQESVPSTWYFLIVLPVLLVIVIFAAVGVTRHKSKELSRKQSQQLELLESELRKEIRDGFAELQMDKLDVVDSFGTVPFLDYKHFALRTFFPESGGFTHIFTEDMHNRDANDKNESLTALDALICNKSFLVTVIHTLEKQKNFSVKDRCLFASFLTIALQTKLVYLTSILEVLTRDLMEQCSNMQPKLMLRRTESVVEKLLTNWMSVCLSGFLRETVGEPFYLLVTTLNQKINKGPVDVITCKALYTLNEDWLLWQVPEFSTVALNVVFEKIPENESADVCRNISVNVLDCDTIGQAKEKIFQAFLSKNGSPYGLQLNEIGLELQMGTRQKELLDIDSSSVILEDGITKLNTIGHYEISNGSTIKVFKKIANFTSDVEYSDDHCHLILPDSEAFQDVQGKRHRGKHKFKVKEMYLTKLLSTKVAIHSVLEKLFRSIWSLPNSRAPFAIKYFFDFLDAQAENKKITDPDVVHIWKTNSLPLRFWVNILKNPQFVFDIKKTPHIDGCLSVIAQAFMDAFSLTEQQLGKEAPTNKLLYAKDIPTYKEEVKSYYKAIRDLPPLSSSEMEEFLTQESKKHENEFNEEVALTEIYKYIVKYFDEILNKLERERGLEEAQKQLLHVKVLFDEKKKCKWM", "length": 1568, "header": "sp|O60486-1|PLXC1_HUMAN Isoform 1 of Plexin-C1 OS=Homo sapiens OX=9606 GN=PLXNC1 PE=1 SV=1 CANONICAL=O60486-1" }, "locus": { "chromosome": "12", "start_pos": 94305282, "end_pos": 94148972, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000258526.9", "url": "https://www.ensembl.org/id/ENST00000258526.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000258526.4", "url": "https://www.ensembl.org/id/ENSP00000258526.4" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G00912UN", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 1308, "start_aa": "Asn", "end_pos": 1308, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1308", "evidence": [ { "id": "O60486", "database": "UniCarbKB", "url": "" }, { "id": "23345538", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23345538" } ] }, { "glytoucan_ac": "G02860WV", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 1308, "start_aa": "Asn", "end_pos": 1308, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1308", "evidence": [ { "id": "O60486", "database": "UniCarbKB", "url": "" }, { "id": "23345538", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23345538" } ] }, { "glytoucan_ac": "G48414YA", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 1308, "start_aa": "Asn", "end_pos": 1308, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1308", "evidence": [ { "id": "725", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/725" }, { "id": "23345538", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23345538" } ] }, { "glytoucan_ac": "G51895WL", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 1308, "start_aa": "Asn", "end_pos": 1308, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1308", "evidence": [ { "id": "725", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/725" }, { "id": "23345538", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23345538" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 141, "start_aa": "Asn", "end_pos": 141, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn141", "evidence": [ { "id": "O60486", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O60486#ptm_processing" }, { "id": "20727575", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/20727575" }, { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 149, "start_aa": "Asn", "end_pos": 149, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn149", "evidence": [ { "id": "O60486", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O60486#ptm_processing" }, { "id": "20727575", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/20727575" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 241, "start_aa": "Asn", "end_pos": 241, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn241", "evidence": [ { "id": "O60486", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O60486#ptm_processing" }, { "id": "20727575", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/20727575" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 252, "start_aa": "Asn", "end_pos": 252, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn252", "evidence": [ { "id": "O60486", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O60486#ptm_processing" }, { "id": "20727575", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/20727575" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 386, "start_aa": "Asn", "end_pos": 386, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn386", "evidence": [ { "id": "O60486", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O60486#ptm_processing" }, { "id": "20727575", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/20727575" } ] }, { "glytoucan_ac": "G35029YA", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 407, "start_aa": "Asn", "end_pos": 407, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn407", "evidence": [ { "id": "O60486", "database": "UniCarbKB", "url": "" }, { "id": "23345538", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23345538" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 407, "start_aa": "Asn", "end_pos": 407, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn407", "evidence": [ { "id": "O60486", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O60486#ptm_processing" }, { "id": "20727575", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/20727575" }, { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 411, "start_aa": "Asn", "end_pos": 411, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn411", "evidence": [ { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" } ] }, { "glytoucan_ac": "G39188ZX", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 548, "start_aa": "Asn", "end_pos": 548, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn548", "evidence": [ { "id": "725", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/725" }, { "id": "23345538", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23345538" } ] }, { "glytoucan_ac": "G41247ZX", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 548, "start_aa": "Asn", "end_pos": 548, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn548", "evidence": [ { "id": "O60486", "database": "UniCarbKB", "url": "" }, { "id": "23345538", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23345538" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 548, "start_aa": "Asn", "end_pos": 548, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn548", "evidence": [ { "id": "O60486", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O60486#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 582, "start_aa": "Asn", "end_pos": 582, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn582", "evidence": [ { "id": "O60486", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O60486#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 653, "start_aa": "Asn", "end_pos": 653, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn653", "evidence": [ { "id": "O60486", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O60486#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 686, "start_aa": "Asn", "end_pos": 686, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn686", "evidence": [ { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 692, "start_aa": "Asn", "end_pos": 692, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn692", "evidence": [ { "id": "O60486", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O60486#ptm_processing" }, { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" }, { "id": "GLY_000143", "database": 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"Ser978" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan", "glycoprotein_reported", "glycoprotein_predicted" ], "publication": [ { "title": "Plexins are a large family of receptors for transmembrane, secreted, and GPI-anchored semaphorins in vertebrates.", "journal": "Cell", "date": "1999", "authors": "Tamagnone L, Artigiani S, Chen H, He Z, Ming GI, Song H, Chedotal A, Winberg ML, Goodman CS, Poo M, Tessier-Lavigne M, Comoglio PM", "evidence": [ { "database": "Reactome", "id": "R-HSA-416700", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-416700" } ], "reference": [ { "type": "PubMed", "id": "10520995", "url": "https://glygen.org/publication/PubMed/10520995" } ] }, { "title": "Switch in the protein tyrosine phosphatase associated with human CD100 semaphorin at terminal B-cell differentiation stage.", "journal": "Blood", "date": "2000", "authors": "Billard C, Delaire S, Raffoux E, Bensussan A, Boumsell L", "evidence": [ { "database": "Reactome", "id": "R-HSA-416700", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-416700" } ], "reference": [ { "type": "PubMed", "id": "10648410", "url": "https://glygen.org/publication/PubMed/10648410" } ] }, { "title": "Identification of CD72 as a lymphocyte receptor for the class IV semaphorin CD100: a novel mechanism for regulating B cell signaling.", "journal": "Immunity", "date": "2000", "authors": "Kumanogoh A, Watanabe C, Lee I, Wang X, Shi W, Araki H, Hirata H, Iwahori K, Uchida J, Yasui T, Matsumoto M, Yoshida K, Yakura H, Pan C, Parnes JR, Kikutani H", "evidence": [ { "database": "Reactome", "id": "R-HSA-416700", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-416700" } ], "reference": [ { "type": "PubMed", "id": "11114375", "url": "https://glygen.org/publication/PubMed/11114375" } ] }, { "title": "Involvement of CD100, a lymphocyte semaphorin, in the activation of the human immune system via CD72: implications for the regulation of immune and inflammatory responses.", "journal": "International immunology", "date": "2003", "authors": "Ishida I, Kumanogoh A, Suzuki K, Akahani S, Noda K, Kikutani H", "evidence": [ { "database": "Reactome", "id": "R-HSA-416700", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-416700" } ], "reference": [ { "type": "PubMed", "id": "12882840", "url": "https://glygen.org/publication/PubMed/12882840" } ] }, { "title": "Plexin-B3 is a functional receptor for semaphorin 5A.", "journal": "EMBO reports", "date": "2004", "authors": "Artigiani S, Conrotto P, Fazzari P, Gilestro GF, Barberis D, Giordano S, Comoglio PM, Tamagnone L", "evidence": [ { "database": "Reactome", "id": "R-HSA-416700", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-416700" } ], "reference": [ { "type": "PubMed", "id": "15218527", "url": "https://glygen.org/publication/PubMed/15218527" } ] }, { "title": "Semaphorin 3E and plexin-D1 control vascular pattern independently of neuropilins.", "journal": "Science (New York, N.Y.)", "date": "2005", "authors": "Gu C, Yoshida Y, Livet J, Reimert DV, Mann F, Merte J, Henderson CE, Jessell TM, Kolodkin AL, Ginty DD", "evidence": [ { "database": "Reactome", "id": "R-HSA-416700", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-416700" } ], "reference": [ { "type": "PubMed", "id": "15550623", "url": "https://glygen.org/publication/PubMed/15550623" } ] }, { "title": "Plexin-A1 and its interaction with DAP12 in immune responses and bone homeostasis.", "journal": "Nature cell biology", "date": "2006", "authors": "Takegahara N, Takamatsu H, Toyofuku T, Tsujimura T, Okuno T, Yukawa K, Mizui M, Yamamoto M, Prasad DV, Suzuki K, Ishii M, Terai K, Moriya M, Nakatsuji Y, Sakoda S, Sato S, Akira S, Takeda K, Inui M, Takai T, Ikawa M, Okabe M, Kumanogoh A, Kikutani H", "evidence": [ { "database": "Reactome", "id": "R-HSA-416700", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-416700" } ], "reference": [ { "type": "PubMed", "id": "16715077", "url": "https://glygen.org/publication/PubMed/16715077" } ] }, { "title": "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.", "journal": "Cell", "date": "2006", "authors": "Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M", "evidence": [ { "database": "iPTMnet", "id": "O60486", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60486" } ], "reference": [ { "type": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" } ] }, { "title": "Semaphorin-4A, an activator for T-cell-mediated immunity, suppresses angiogenesis via Plexin-D1.", "journal": "The EMBO journal", "date": "2007", "authors": "Toyofuku T, Yabuki M, Kamei J, Kamei M, Makino N, Kumanogoh A, Hori M", "evidence": [ { "database": "Reactome", "id": "R-HSA-416700", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-416700" } ], "reference": [ { "type": "PubMed", "id": "17318185", "url": "https://glygen.org/publication/PubMed/17318185" } ] }, { "title": "Semaphorin 7a promotes spreading and dendricity in human melanocytes through beta1-integrins.", "journal": "The Journal of investigative dermatology", "date": "2008", "authors": "Scott GA, McClelland LA, Fricke AF", "evidence": [ { "database": "RefSeq", "id": "NP_005752", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005752" } ], "reference": [ { "type": "PubMed", "id": "17671519", "url": "https://glygen.org/publication/PubMed/17671519" } ] }, { "title": "Motif-specific sampling of phosphoproteomes.", "journal": "Journal of proteome research", "date": "2008", "authors": "Ruse CI, McClatchy DB, Lu B, Cociorva D, Motoyama A, Park SK, Yates JR 3rd", "evidence": [ { "database": "iPTMnet", "id": "O60486", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60486" } ], "reference": [ { "type": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" } ] }, { "title": "Structural basis of semaphorin-plexin recognition and viral mimicry 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"title": "N-linked glycosylation enrichment for in-depth cell surface proteomics of diffuse large B-cell lymphoma subtypes.", "journal": "Molecular & cellular proteomics : MCP", "date": "2014", "authors": "Deeb SJ, Cox J, Schmidt-Supprian M, Mann M", "evidence": [ { "database": "GlyGen", "id": "GLY_000143", "url": "https://data.glygen.org/GLY_000143" } ], "reference": [ { "type": "PubMed", "id": "24190977", "url": "https://glygen.org/publication/PubMed/24190977" } ] }, { "title": "Plexin C1 deficiency permits synaptotagmin 7-mediated macrophage migration and enhances mammalian lung fibrosis.", "journal": "FASEB journal : official publication of the Federation of American Societies for Experimental Biology", "date": "2016", "authors": "Peng X, Moore M, Mathur A, Zhou Y, Sun H, Gan Y, Herazo-Maya JD, Kaminski N, Hu X, Pan H, Ryu C, Osafo-Addo A, Homer RJ, Feghali-Bostwick C, Fares WH, Gulati M, Hu B, Lee CG, Elias JA, Herzog EL", "evidence": [ { "database": "RefSeq", "id": "NP_005752", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005752" } ], "reference": [ { "type": "PubMed", "id": "27609773", "url": "https://glygen.org/publication/PubMed/27609773" } ] }, { "title": "Long non-coding RNA CASC2 inhibits tumorigenesis via the miR-181a/PLXNC1 axis in melanoma.", "journal": "Acta biochimica et biophysica Sinica", "date": "2018", "authors": "Wang Z, Wang X, Zhou H, Dan X, Jiang L, Wu Y", "evidence": [ { "database": "RefSeq", "id": "NP_005752", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005752" } ], "reference": [ { "type": "PubMed", "id": "29514220", "url": "https://glygen.org/publication/PubMed/29514220" } ] }, { "title": "Reanalysis of Global Proteomic and Phosphoproteomic Data Identified a Large Number of Glycopeptides.", "journal": "Analytical chemistry", "date": "2018", "authors": "Hu Y, Shah P, Clark DJ, Ao M, Zhang H", "evidence": [ { "database": "GlyConnect", "id": "725", "url": "https://glyconnect.expasy.org/browser/proteins/725" } ], "reference": [ { 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"https://www.uniprot.org/uniprot/O60486" } ], "pmid": "" }, { "name": "cerebellar climbing fiber to Purkinje cell synapse", "id": "GO:0150053", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0150053", "evidence": [ { "database": "UniProtKB", "id": "O60486", "url": "https://www.uniprot.org/uniprot/O60486" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 2, "go_terms": [ { "name": "signaling receptor binding", "id": "GO:0005102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005102", "evidence": [ { "database": "UniProtKB", "id": "O60486", "url": "https://www.uniprot.org/uniprot/O60486" } ], "pmid": "" }, { "name": "semaphorin receptor activity", "id": "GO:0017154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017154", "evidence": [ { "database": "UniProtKB", "id": "O60486", "url": "https://www.uniprot.org/uniprot/O60486" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 7, "go_terms": [ { "name": "cell adhesion", "id": "GO:0007155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007155", "evidence": [ { "database": "UniProtKB", "id": "O60486", "url": "https://www.uniprot.org/uniprot/O60486" } ], "pmid": "" }, { "name": "negative regulation of cell adhesion", "id": "GO:0007162", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007162", "evidence": [ { "database": "UniProtKB", "id": "O60486", "url": "https://www.uniprot.org/uniprot/O60486" } ], "pmid": "" }, { "name": "regulation of cell migration", "id": "GO:0030334", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030334", "evidence": [ { "database": "UniProtKB", "id": "O60486", "url": "https://www.uniprot.org/uniprot/O60486" } ], "pmid": "" }, { "name": "regulation of cell shape", "id": "GO:0008360", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008360", "evidence": [ { "database": "UniProtKB", "id": "O60486", "url": "https://www.uniprot.org/uniprot/O60486" } ], "pmid": "" }, { "name": "positive regulation of axonogenesis", "id": "GO:0050772", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050772", "evidence": [ { "database": "UniProtKB", "id": "O60486", "url": "https://www.uniprot.org/uniprot/O60486" } ], "pmid": "" }, { "name": "semaphorin-plexin signaling pathway involved in axon guidance", "id": "GO:1902287", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902287", "evidence": [ { "database": "UniProtKB", "id": "O60486", "url": "https://www.uniprot.org/uniprot/O60486" } ], "pmid": "" }, { "name": "regulation of synapse pruning", "id": "GO:1905806", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905806", "evidence": [ { "database": "UniProtKB", "id": "O60486", "url": "https://www.uniprot.org/uniprot/O60486" } ], "pmid": "" } ] } ] }, "pro_annotation": [ { "name": "plexin-C1 N-glycosylated 1 (human)", "definition": "A plexin-C1 (human) that has been N-glycosylated at the residue equivalent to Asn-1308 of the amino acid sequence represented by UniProtKB:O60486-1, in which the glycan composition is represented by GlyTouCan:G00912UN. Example: UniProtKB:O60486-1, Asn-1308, MOD:00160~GNO:G00912UN. [PRO:DNx, PMID:23345538]", "evidence": [ { "id": "PR:000050775", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000050775" } ] }, { "name": "plexin-C1 N-glycosylated 2 (human)", "definition": "A plexin-C1 (human) that has been N-glycosylated at the residue equivalent to Asn-1308 of the amino acid sequence represented by UniProtKB:O60486-1, in which the glycan composition is represented by GlyTouCan:G02860WV. Example: UniProtKB:O60486-1, Asn-1308, MOD:00160~GNO:G02860WV. [PRO:DNx, PMID:23345538]", "evidence": [ { "id": "PR:000050776", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000050776" } ] }, { "name": "plexin-C1 N-glycosylated 3 (human)", "definition": "A plexin-C1 (human) that has been N-glycosylated at the residue equivalent to Asn-407 of the amino acid sequence represented by UniProtKB:O60486-1, in which the glycan composition is represented by GlyTouCan:G35029YA. Example: UniProtKB:O60486-1, Asn-407, MOD:00160~GNO:G35029YA. [PRO:DNx, PMID:23345538]", "evidence": [ { "id": "PR:000050777", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000050777" } ] }, { "name": "plexin-C1 N-glycosylated 4 (human)", "definition": "A plexin-C1 (human) that has been N-glycosylated at the residue equivalent to Asn-548 of the amino acid sequence represented by UniProtKB:O60486-1, in which the glycan composition is represented by GlyTouCan:G41247ZX. Example: UniProtKB:O60486-1, Asn-548, MOD:00160~GNO:G41247ZX. [PRO:DNx, PMID:23345538]", "evidence": [ { "id": "PR:000050778", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000050778" } ] }, { "name": "plexin-C1 N-glycosylated 5 (human)", "definition": "A plexin-C1 (human) that has been N-glycosylated at the residue equivalent to Asn-771 of the amino acid sequence represented by UniProtKB:O60486-1, in which the glycan composition is represented by GlyTouCan:G10339FR. Example: UniProtKB:O60486-1, Asn-771, MOD:00160~GNO:G10339FR. [PRO:DNx, PMID:23345538]", "evidence": [ { "id": "PR:000050779", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000050779" } ] }, { "name": "plexin-C1 N-glycosylated 6 (human)", "definition": "A plexin-C1 (human) that has been N-glycosylated at the residue equivalent to Asn-871 of the amino acid sequence represented by UniProtKB:O60486-1, in which the glycan composition is represented by GlyTouCan:G92050GC. Example: UniProtKB:O60486-1, Asn-871, MOD:00160~GNO:G92050GC. [PRO:DNx, PMID:23345538]", "evidence": [ { "id": "PR:000050780", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000050780" } ] }, { "name": "plexin-C1 N-glycosylated 7 (human)", "definition": "A plexin-C1 (human) that has been N-glycosylated at the residue equivalent to Asn-871 of the amino acid sequence represented by UniProtKB:O60486-1, in which the glycan composition is represented by GlyTouCan:G98208DX. Example: UniProtKB:O60486-1, Asn-871, MOD:00160~GNO:G98208DX. [PRO:DNx, PMID:23345538]", "evidence": [ { "id": "PR:000050781", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000050781" } ] } ], "site_annotation": [ { "start_pos": 1050, "end_pos": 1052, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1062, "end_pos": 1064, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1078, "end_pos": 1080, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1211, "end_pos": 1213, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1219, "end_pos": 1221, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1245, "end_pos": 1247, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1296, "end_pos": 1298, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1308, "end_pos": 1310, "annotation": "n_glycosylation_sequon" }, { "start_pos": 141, "end_pos": 143, "annotation": "n_glycosylation_sequon" }, { "start_pos": 149, "end_pos": 151, "annotation": "n_glycosylation_sequon" }, { "start_pos": 241, "end_pos": 243, "annotation": "n_glycosylation_sequon" }, { "start_pos": 252, "end_pos": 254, "annotation": "n_glycosylation_sequon" }, { "start_pos": 386, "end_pos": 388, "annotation": "n_glycosylation_sequon" }, { "start_pos": 407, "end_pos": 409, "annotation": "n_glycosylation_sequon" }, { "start_pos": 548, "end_pos": 550, "annotation": "n_glycosylation_sequon" }, { "start_pos": 553, "end_pos": 555, "annotation": "n_glycosylation_sequon" }, { "start_pos": 582, "end_pos": 584, "annotation": "n_glycosylation_sequon" }, { "start_pos": 588, "end_pos": 590, "annotation": "n_glycosylation_sequon" }, { "start_pos": 591, "end_pos": 593, "annotation": "n_glycosylation_sequon" }, { "start_pos": 653, "end_pos": 655, "annotation": "n_glycosylation_sequon" }, { "start_pos": 686, "end_pos": 688, "annotation": "n_glycosylation_sequon" }, { "start_pos": 692, "end_pos": 694, "annotation": "n_glycosylation_sequon" }, { "start_pos": 715, "end_pos": 717, "annotation": "n_glycosylation_sequon" }, { "start_pos": 741, "end_pos": 743, "annotation": "n_glycosylation_sequon" }, { "start_pos": 771, "end_pos": 773, "annotation": "n_glycosylation_sequon" }, { "start_pos": 796, "end_pos": 798, "annotation": "n_glycosylation_sequon" }, { "start_pos": 821, "end_pos": 823, "annotation": "n_glycosylation_sequon" }, { "start_pos": 86, "end_pos": 88, "annotation": "n_glycosylation_sequon" }, { "start_pos": 871, "end_pos": 873, "annotation": "n_glycosylation_sequon" }, { "start_pos": 890, "end_pos": 892, "annotation": "n_glycosylation_sequon" }, { "start_pos": 895, "end_pos": 897, "annotation": "n_glycosylation_sequon" }, { "start_pos": 920, "end_pos": 922, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [ { "annotation": "N-glycosylated.", "evidence": [ { "database": "UniProtKB", "id": "O60486", "url": "https://www.uniprot.org/uniprot/O60486" }, { "database": "PubMed", "id": "20727575", "url": "https://glygen.org/publication/PubMed/20727575" }, { "database": "PubMed", "id": "9586637", "url": "https://glygen.org/publication/PubMed/9586637" } ] } ], "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": [ 86, 141, 149, 241, 252, 386, 407, 411, 548, 582, 653, 686, 692, 715, 771, 796, 821, 871, 890, 920, 1308 ], "o_linked_sites": [], "snv_sites": [ 75, 86, 88, 143, 149, 151, 243, 252, 254, 386, 388, 451, 540, 550, 568, 584, 653, 655, 681, 692, 694, 715, 771, 773, 786, 796, 798, 869, 871, 890, 920, 922, 1204, 1273, 1274, 1308, 1399 ], "glycation_sites": [], "phosphorylation_sites": [ 978, 1299, 1466 ], "sequon_annotation_sites": [ { "start_pos": 1050, "end_pos": 1052 }, { "start_pos": 1062, "end_pos": 1064 }, { "start_pos": 1078, "end_pos": 1080 }, { "start_pos": 1211, "end_pos": 1213 }, { "start_pos": 1219, "end_pos": 1221 }, { "start_pos": 1245, "end_pos": 1247 }, { "start_pos": 1296, "end_pos": 1298 }, { "start_pos": 1308, "end_pos": 1310 }, { "start_pos": 141, "end_pos": 143 }, { "start_pos": 149, "end_pos": 151 }, { "start_pos": 241, "end_pos": 243 }, { "start_pos": 252, "end_pos": 254 }, { "start_pos": 386, "end_pos": 388 }, { "start_pos": 407, "end_pos": 409 }, { "start_pos": 548, "end_pos": 550 }, { "start_pos": 553, "end_pos": 555 }, { "start_pos": 582, "end_pos": 584 }, { "start_pos": 588, "end_pos": 590 }, { "start_pos": 591, "end_pos": 593 }, { "start_pos": 653, "end_pos": 655 }, { "start_pos": 686, "end_pos": 688 }, { "start_pos": 692, "end_pos": 694 }, { "start_pos": 715, "end_pos": 717 }, { "start_pos": 741, "end_pos": 743 }, { "start_pos": 771, "end_pos": 773 }, { "start_pos": 796, "end_pos": 798 }, { "start_pos": 821, "end_pos": 823 }, { "start_pos": 86, "end_pos": 88 }, { "start_pos": 871, "end_pos": 873 }, { "start_pos": 890, "end_pos": 892 }, { "start_pos": 895, "end_pos": 897 }, { "start_pos": 920, "end_pos": 922 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 35 }, { "field": "total_sites", "count": 22 }, { "field": "n_linked_glycans", "count": 14 }, { "field": "n_linked_glycan_sites", "count": 25 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 15 }, { "field": "total_sites", "count": 15 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 15 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 15 }, { "field": "total_sites", "count": 6 }, { "field": "n_linked_glycans", "count": 14 }, { "field": "n_linked_glycan_sites", "count": 5 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 5 }, { "field": "total_sites", "count": 5 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 5 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_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": 3 }, { "field": "total_sites", "count": 3 } ], "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": 45 }, { "field": "total_sites", "count": 37 } ], "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": 9 }, { "field": "total_sites", "count": 9 } ], "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": 36 }, { "field": "total_sites", "count": 31 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 23 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }