{ "uniprot_canonical_ac": "Q9BY67-1", "uniprot_ac": "Q9BY67", "uniprot_id": "CADM1_HUMAN", "mass": { "chemical_mass": 48509.0, "monoisotopic_mass": 48509.0 }, "refseq": { "ac": "NP_001287974", "name": "cell adhesion molecule 1 isoform C precursor", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287974" }, "gene_names": [ { "name": "CADM1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/Q9BY67", "id": "Q9BY67" }, { "name": "BL2; IGSF4; IGSF4A; Necl-2; NECL2; RA175; sgIGSF; ST17; sTSLC-1; SYNCAM; synCAM1; TSLC1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287974", "id": "NP_001287974" }, { "name": "CADM1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287974", "id": "NP_001287974" }, { "name": "IGSF4A", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q9BY67", "id": "Q9BY67" }, { "name": "IGSF4", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q9BY67", "id": "Q9BY67" }, { "name": "NECL2", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q9BY67", "id": "Q9BY67" }, { "name": "SYNCAM", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q9BY67", "id": "Q9BY67" }, { "name": "TSLC1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q9BY67", "id": "Q9BY67" } ], "protein_names": [ { "name": "Cell adhesion molecule 1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "Q9BY67" }, { "name": "IgSF4", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q9BY67" }, { "name": "Immunoglobulin superfamily member 4", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q9BY67" }, { "name": "NECL-2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q9BY67" }, { "name": "Nectin-like protein 2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q9BY67" }, { "name": "SgIgSF", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q9BY67" }, { "name": "Spermatogenic immunoglobulin superfamily", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q9BY67" }, { "name": "SynCAM", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q9BY67" }, { "name": "Synaptic cell adhesion molecule", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q9BY67" }, { "name": "TSLC-1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q9BY67" }, { "name": "Tumor suppressor in lung cancer 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q9BY67" }, { "name": "cell adhesion molecule 1 isoform C precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287974", "id": "NP_001287974" }, { "name": "cell adhesion molecule 1 isoform E precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001091987", "id": "NP_001091987" }, { "name": "tumor suppressor in lung cancer 1; nectin-like protein 2; nectin-like 2; TSLC1/Nectin-like 2/IGSF4; TSLC-1; synaptic cell adhesion molecule; immunoglobulin superfamily member 4; spermatogenic immunoglobulin superfamily", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001091987", "id": "NP_001091987" } ], "function": [ { "annotation": "Alteration of TSLC1 is involved in prostate cancer", "evidence": [ { "database": "RefSeq", "id": "NP_001287974", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287974" }, { "database": "PubMed", "id": "12079507", "url": "https://glygen.org/publication/PubMed/12079507" }, { "database": "RefSeq", "id": "NP_001091987", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001091987" } ] }, { "annotation": "Analysis of the key ligand receptor CADM1_CADM1 in the regulation of thyroid cancer based on scRNA-seq and bulk RNA-seq data. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001287974", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287974" }, { "database": "PubMed", "id": "36523593", "url": "https://glygen.org/publication/PubMed/36523593" }, { "database": "RefSeq", "id": "NP_001091987", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001091987" } ] }, { "annotation": "Cell adhesion molecule 1 expression in mycosis fungoides versus parapsoriasis versus inflammatory dermatosis: an immunohistochemical comparative study.", "evidence": [ { "database": "RefSeq", "id": "NP_001287974", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287974" }, { "database": "PubMed", "id": "36943432", "url": "https://glygen.org/publication/PubMed/36943432" }, { "database": "RefSeq", "id": "NP_001091987", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001091987" } ] }, { "annotation": "Evidence of islet CADM1-mediated immune cell interactions during human type 1 diabetes. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001287974", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287974" }, { "database": "PubMed", "id": "35133983", "url": "https://glygen.org/publication/PubMed/35133983" }, { "database": "RefSeq", "id": "NP_001091987", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001091987" } ] }, { "annotation": "Interaction of the Hemagglutinin Stalk Region with Cell Adhesion Molecule (CADM) 1 and CADM2 Mediates the Spread between Neurons and Neuropathogenicity of Measles Virus with a Hyperfusogenic Fusion Protein.", "evidence": [ { "database": "RefSeq", "id": "NP_001287974", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287974" }, { "database": "PubMed", "id": "37166307", "url": "https://glygen.org/publication/PubMed/37166307" }, { "database": "RefSeq", "id": "NP_001091987", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001091987" } ] }, { "annotation": "Mediates homophilic cell-cell adhesion in a Ca(2+)-independent manner (PubMed:22438059, PubMed:12050160). Also mediates heterophilic cell-cell adhesion with CADM3 and NECTIN3 in a Ca(2+)-independent manner (By similarity). Interaction with CRTAM promotes natural killer (NK) cell cytotoxicity and interferon-gamma (IFN-gamma) secretion by CD8+ cells in vitro as well as NK cell-mediated rejection of tumors expressing CADM1 in vivo (PubMed:15811952). In mast cells, may mediate attachment to and promote communication with nerves (PubMed:15905536). CADM1, together with MITF, is essential for development and survival of mast cells in vivo (PubMed:22438059). By interacting with CRTAM and thus promoting the adhesion between CD8+ T-cells and CD8+ dendritic cells, regulates the retention of activated CD8+ T-cell within the draining lymph node (By similarity). Required for the intestinal retention of intraepithelial CD4+ CD8+ T-cells and, to a lesser extent, intraepithelial and lamina propria CD8+ T-cells and CD4+ T-cells (By similarity). Interaction with CRTAM promotes the adhesion to gut-associated CD103+ dendritic cells, which may facilitate the expression of gut-homing and adhesion molecules on T-cells and the conversion of CD4+ T-cells into CD4+ CD8+ T-cells (By similarity). Acts as a synaptic cell adhesion molecule and plays a role in the formation of dendritic spines and in synapse assembly (By similarity). May be involved in neuronal migration, axon growth, pathfinding, and fasciculation on the axons of differentiating neurons (By similarity). May play diverse roles in the spermatogenesis including in the adhesion of spermatocytes and spermatids to Sertoli cells and for their normal differentiation into mature spermatozoa (By similarity). Acts as a tumor suppressor in non-small-cell lung cancer (NSCLC) cells (PubMed:11279526, PubMed:12234973). May contribute to the less invasive phenotypes of lepidic growth tumor cells (PubMed:12920246).", "evidence": [ { "database": "UniProtKB", "id": "Q9BY67", "url": "https://www.uniprot.org/uniprot/Q9BY67#function" }, { "database": "PubMed", "id": "22438059", "url": "https://glygen.org/publication/PubMed/22438059" }, { "database": "PubMed", "id": "12234973", "url": "https://glygen.org/publication/PubMed/12234973" }, { "database": "PubMed", "id": "11279526", "url": "https://glygen.org/publication/PubMed/11279526" }, { "database": "PubMed", "id": "15905536", "url": "https://glygen.org/publication/PubMed/15905536" }, { "database": "PubMed", "id": "15811952", "url": "https://glygen.org/publication/PubMed/15811952" }, { "database": "UniProtKB", "id": "Q8R5M8", "url": "https://www.uniprot.org/uniprot/Q8R5M8#function" }, { "database": "PubMed", "id": "12050160", "url": "https://glygen.org/publication/PubMed/12050160" }, { "database": "PubMed", "id": "12920246", "url": "https://glygen.org/publication/PubMed/12920246" } ] }, { "annotation": "Somatic mutations of CADM1 in aldosterone-producing adenomas and gap junction-dependent regulation of aldosterone production.", "evidence": [ { "database": "RefSeq", "id": "NP_001287974", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287974" }, { "database": "PubMed", "id": "37291193", "url": "https://glygen.org/publication/PubMed/37291193" }, { "database": "RefSeq", "id": "NP_001091987", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001091987" } ] }, { "annotation": "TSLC1 mediates intracellular adhesion through homophilic interactions in a Ca(2+)/Mg(2+)-independent manner", "evidence": [ { "database": "RefSeq", "id": "NP_001287974", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287974" }, { "database": "PubMed", "id": "12050160", "url": "https://glygen.org/publication/PubMed/12050160" }, { "database": "RefSeq", "id": "NP_001091987", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001091987" } ] }, { "annotation": "The TSLC1 promoter region has many methylated cytosines in the CpG islands in chromosome 11q LOH in breast cancer.", "evidence": [ { "database": "RefSeq", "id": "NP_001287974", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287974" }, { "database": "PubMed", "id": "12112527", "url": "https://glygen.org/publication/PubMed/12112527" }, { "database": "RefSeq", "id": "NP_001091987", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001091987" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs1246790234", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1246790234" }, { "id": "rs1246790234", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1246790234" } ], "glycoeffect": [ "n-glyco-sequon-gain", "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 103, "end_pos": 103, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SSS->NSS); n-glyco-sequon-loss (NFS->NFN).", "chr_id": "11", "chr_pos": "115238613", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S103", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q9BY67", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/Q9BY67" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 101, "end_pos": 101, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "N", "sequence_mut": "H", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NFS->HFS).", "chr_id": "11", "chr_pos": "115238623", "ref_nt": "T", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "N101", "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" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "Q9BY67", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/Q9BY67" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 101, "end_pos": 101, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "N", "sequence_mut": "S", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NFS->SFS).", "chr_id": "11", "chr_pos": "115238622", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "N101", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ] } 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"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": "" 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"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", 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"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 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"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 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cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "No", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "Q9BY67", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q9BY67" } ], "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": 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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": "No", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "Q9BY67", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q9BY67" } ], "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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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q9BY67" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "No", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "Q9BY67", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q9BY67" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", 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"GDGQNLFTKDVTVIEGEVATISCQVNKSDDSVIQLLNPNRQTIYFRDFRPLKDSRFQLLNFSSSELKVSLTNVSISDEGRYFCQLYTDPPQESYTTITVLVPPRNLMIDIQKDTAVEGEEIEVNCTAMASKPATTIRWFKGNTELKGKSEVEEWSDMYTVTSQLMLKVHKEDDGVPVICQVEHPAVTGNLQTQRYLEVQYKPQVHIQMTYPLQGLTREGDALELTCEAIGKPQPVMVTWVRVDDEMPQHAVLSGPNLFINNLNKTDNGTYRCEASNIVGKAHSDYMLYVYDPPTTIPPPTTTTTTTTTTTTTILTIITDTTATTEPAVHDSRAGEEGSIRAVDHAVIGGVVAVVVFAMLCLLIILGRYFARHKGTYFTHEAKGADDAADADTAIINAEGGQNNSEEKKEYFI", "length": 412, "header": "tr|A0A087X1W8-1|A0A087X1W8_HUMAN Computationally mapped isoform of Cell adhesion molecule 1 OS=Homo sapiens OX=9606 GN=CADM1 PE=1 SV=1 CANONICAL=Q9BY67-1" }, "locus": { "chromosome": "11", "start_pos": 115240421, "end_pos": 115176477, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000616271.4", "url": "https://www.ensembl.org/id/ENST00000616271.4" }, { "database": "Ensembl Peptide", "id": "ENSP00000484516.1", "url": "https://www.ensembl.org/id/ENSP00000484516.1" } ] } }, { "isoform_ac": "A0A0A0MTJ8-1", "url": "", "sequence": { "sequence": "XSVVLPSGSQCAAAAAAAAPPGLRLRLLLLLFSAAALIPTGDGQNLFTKDVTVIEGEVATISCQVNKSDDSVIQLLNPNRQTIYFRDFRPLKDSRFQLLNFSSSELKVSLTNVSISDEGRYFCQLYTDPPQESYTTITVLVPPRNLMIDIQKDTAVEGEEIEVNCTAMASKPATTIRWFKGNTELKGKSEVEEWSDMYTVTSQLMLKVHKEDDGVPVICQVEHPAVTGNLQTQRYLEVQYKPQVHIQMTYPLQGLTREGDALELTCEAIGKPQPVMVTWVRVDDEMPQHAVLSGPNLFINNLNKTDNGTYRCEASNIVGKAHSDYMLYVYDSRAGEEGSIRAVDHAVIGGVVAVVVFAMLCLLIILGRYFARHKGTYFTHEAKGADDAADADTAIINAEGGQNNSEEKKEYFI", "length": 413, "header": "tr|A0A0A0MTJ8-1|A0A0A0MTJ8_HUMAN Computationally mapped isoform of Cell adhesion molecule 1 OS=Homo sapiens OX=9606 GN=CADM1 PE=1 SV=1 CANONICAL=Q9BY67-1" }, "locus": { "chromosome": "11", "start_pos": 115504389, "end_pos": 115176475, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000545380.5", "url": "https://www.ensembl.org/id/ENST00000545380.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000442387.1", "url": "https://www.ensembl.org/id/ENSP00000442387.1" } ] } }, { "isoform_ac": "F5H0H5-1", "url": "", "sequence": { "sequence": "MIDIQKDTAVEGEEIEVNCTAMASKPATTIRWFKGNTELKGKSEVEEWSDMYTVTSQLMLKVHKEDDGVPVICQVEHPA", "length": 79, "header": "tr|F5H0H5-1|F5H0H5_HUMAN Computationally mapped isoform of Cell adhesion molecule 1 OS=Homo sapiens OX=9606 GN=CADM1 PE=1 SV=1 CANONICAL=Q9BY67-1" }, "locus": { "chromosome": "11", "start_pos": 115231473, "end_pos": 115229156, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000543540.5", "url": "https://www.ensembl.org/id/ENST00000543540.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000439847.1", "url": "https://www.ensembl.org/id/ENSP00000439847.1" } ] } }, { "isoform_ac": "F5H125-1", "url": "", "sequence": { "sequence": "MKASGHTSGDGQNLFTKDVTVIEGEVATISCQVNKSDDSVIQLLNPNRQTIYFRDFRPLKDSRFQLLNFSSSELKVSLTNVSISDEGRYFCQLYTDPPQESYTTITVLVPPRNLMIDIQKDTAVEGEEIEVNCTAMASKPATTIRWFKGNTELKGKSEVEEWSDMYTVTSQLMLKVHKEDDG", "length": 182, "header": "tr|F5H125-1|F5H125_HUMAN Computationally mapped isoform of Cell adhesion molecule 1 OS=Homo sapiens OX=9606 GN=CADM1 PE=1 SV=1 CANONICAL=Q9BY67-1" }, "locus": { "chromosome": "11", "start_pos": 115256856, "end_pos": 115229189, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000545094.5", "url": "https://www.ensembl.org/id/ENST00000545094.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000439696.1", "url": "https://www.ensembl.org/id/ENSP00000439696.1" } ] } }, { "isoform_ac": "F5H372-1", "url": "", "sequence": { "sequence": "MASVVLPSGSQCAAAAAAAAPPGLRLRLLLLLFSAAALIPTGLTSSPRLECGGTISAHCSLGLPVLR", "length": 67, "header": "tr|F5H372-1|F5H372_HUMAN Computationally mapped isoform of Cell adhesion molecule 1 OS=Homo sapiens OX=9606 GN=CADM1 PE=4 SV=1 CANONICAL=Q9BY67-1" }, "locus": { "chromosome": "11", "start_pos": 115504394, "end_pos": 115240420, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000540951.1", "url": "https://www.ensembl.org/id/ENST00000540951.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000445375.1", "url": "https://www.ensembl.org/id/ENSP00000445375.1" } ] } }, { "isoform_ac": "F5H8J9-1", "url": "", "sequence": { "sequence": "MIDIQKDTAVEGEEIEVNCTAMASKPATTIRWFKGNTELKGKSEVEEWSDMYTVTSQLMLKVHKEDDGVPVICQVEHPAVTGNLQTQRYLEVQYKPQVHIQMTYPLQGLT", "length": 110, "header": "tr|F5H8J9-1|F5H8J9_HUMAN Computationally mapped isoform of Cell adhesion molecule 1 OS=Homo sapiens OX=9606 GN=CADM1 PE=1 SV=8 CANONICAL=Q9BY67-1" }, "locus": { "chromosome": "11", "start_pos": 115231473, "end_pos": 115217942, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000542450.5", "url": "https://www.ensembl.org/id/ENST00000542450.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000442001.1", "url": "https://www.ensembl.org/id/ENSP00000442001.1" } ] } }, { "isoform_ac": "H0YG94-1", "url": "", "sequence": { "sequence": "XSGDLPSYSPLPHSPRSQRSIPSVQGDGQNLFTKDVTVIEGEVATISCQVNKSDDSVIQLLNPNRQTIYFRDFRPLKDSRFQLLNFSSSELKVSLTNVSISDEGRYFCQLYTDPPQESYTTITVLVPPRNLMIDIQKDTAVEGEEIEVNCTAMASKPATTIRWFKGNTELKGKSEVEEWSDMYTVTSQ", "length": 188, "header": "tr|H0YG94-1|H0YG94_HUMAN Computationally mapped isoform of Cell adhesion molecule 1 OS=Homo sapiens OX=9606 GN=CADM1 PE=1 SV=8 CANONICAL=Q9BY67-1" }, "locus": { "chromosome": "11", "start_pos": 115504957, "end_pos": 115229221, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000543249.1", "url": "https://www.ensembl.org/id/ENST00000543249.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000442227.1", "url": "https://www.ensembl.org/id/ENSP00000442227.1" } ] } }, { "isoform_ac": "Q9BY67-1", "url": "", "sequence": { "sequence": "MASVVLPSGSQCAAAAAAAAPPGLRLRLLLLLFSAAALIPTGDGQNLFTKDVTVIEGEVATISCQVNKSDDSVIQLLNPNRQTIYFRDFRPLKDSRFQLLNFSSSELKVSLTNVSISDEGRYFCQLYTDPPQESYTTITVLVPPRNLMIDIQKDTAVEGEEIEVNCTAMASKPATTIRWFKGNTELKGKSEVEEWSDMYTVTSQLMLKVHKEDDGVPVICQVEHPAVTGNLQTQRYLEVQYKPQVHIQMTYPLQGLTREGDALELTCEAIGKPQPVMVTWVRVDDEMPQHAVLSGPNLFINNLNKTDNGTYRCEASNIVGKAHSDYMLYVYDPPTTIPPPTTTTTTTTTTTTTILTIITDSRAGEEGSIRAVDHAVIGGVVAVVVFAMLCLLIILGRYFARHKGTYFTHEAKGADDAADADTAIINAEGGQNNSEEKKEYFI", "length": 442, "header": "sp|Q9BY67-1|CADM1_HUMAN Isoform 1 of Cell adhesion molecule 1 OS=Homo sapiens OX=9606 GN=CADM1 PE=1 SV=2 CANONICAL=Q9BY67-1" }, "locus": { "chromosome": "11", "start_pos": 115504394, "end_pos": 115176477, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000452722.7", "url": "https://www.ensembl.org/id/ENST00000452722.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000395359.2", "url": "https://www.ensembl.org/id/ENSP00000395359.2" } ] } }, { "isoform_ac": "Q9BY67-2", "url": "", "sequence": { "sequence": "MASVVLPSGSQCAAAAAAAAPPGLRLRLLLLLFSAAALIPTGDGQNLFTKDVTVIEGEVATISCQVNKSDDSVIQLLNPNRQTIYFRDFRPLKDSRFQLLNFSSSELKVSLTNVSISDEGRYFCQLYTDPPQESYTTITVLVPPRNLMIDIQKDTAVEGEEIEVNCTAMASKPATTIRWFKGNTELKGKSEVEEWSDMYTVTSQLMLKVHKEDDGVPVICQVEHPAVTGNLQTQRYLEVQYKPQVHIQMTYPLQGLTREGDALELTCEAIGKPQPVMVTWVRVDDEMPQHAVLSGPNLFINNLNKTDNGTYRCEASNIVGKAHSDYMLYVYGT", "length": 333, "header": "sp|Q9BY67-2|CADM1_HUMAN Isoform 2 of Cell adhesion molecule 1 OS=Homo sapiens OX=9606 GN=CADM1 PE=1 SV=2 CANONICAL=Q9BY67-1" }, "locus": {} }, { "isoform_ac": "Q9BY67-3", "url": "", "sequence": { "sequence": "MASVVLPSGSQCAAAAAAAAPPGLRLRLLLLLFSAAALIPTGDGQNLFTKDVTVIEGEVATISCQVNKSDDSVIQLLNPNRQTIYFRDFRPLKDSRFQLLNFSSSELKVSLTNVSISDEGRYFCQLYTDPPQESYTTITVLVPPRNLMIDIQKDTAVEGEEIEVNCTAMASKPATTIRWFKGNTELKGKSEVEEWSDMYTVTSQLMLKVHKEDDGVPVICQVEHPAVTGNLQTQRYLEVQYKPQVHIQMTYPLQGLTREGDALELTCEAIGKPQPVMVTWVRVDDEMPQHAVLSGPNLFINNLNKTDNGTYRCEASNIVGKAHSDYMLYVYDPPTTIPPPTTTTTTTTTTTTTILTIITDTTATTEPAVHGLTQLPNSAEELDSEDLSDSRAGEEGSIRAVDHAVIGGVVAVVVFAMLCLLIILGRYFARHKGTYFTHEAKGADDAADADTAIINAEGGQNNSEEKKEYFI", "length": 471, "header": "sp|Q9BY67-3|CADM1_HUMAN Isoform 3 of Cell adhesion molecule 1 OS=Homo sapiens OX=9606 GN=CADM1 PE=1 SV=2 CANONICAL=Q9BY67-1" }, "locus": { "chromosome": "11", "start_pos": 115504394, "end_pos": 115176477, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000331581.11", "url": "https://www.ensembl.org/id/ENST00000331581.11" }, { "database": "Ensembl Peptide", "id": "ENSP00000329797.6", "url": "https://www.ensembl.org/id/ENSP00000329797.6" } ] } }, { "isoform_ac": "Q9BY67-4", "url": "", "sequence": { "sequence": "MASVVLPSGSQCAAAAAAAAPPGLRLRLLLLLFSAAALIPTGDGQNLFTKDVTVIEGEVATISCQVNKSDDSVIQLLNPNRQTIYFRDFRPLKDSRFQLLNFSSSELKVSLTNVSISDEGRYFCQLYTDPPQESYTTITVLVPPRNLMIDIQKDTAVEGEEIEVNCTAMASKPATTIRWFKGNTELKGKSEVEEWSDMYTVTSQLMLKVHKEDDGVPVICQVEHPAVTGNLQTQRYLEVQYKPQVHIQMTYPLQGLTREGDALELTCEAIGKPQPVMVTWVRVDDEMPQHAVLSGPNLFINNLNKTDNGTYRCEASNIVGKAHSDYMLYVYDPPTTIPPPTTTTTTTTTTTTTILTIITDTTATTEPAVHDSRAGEEGSIRAVDHAVIGGVVAVVVFAMLCLLIILGRYFARHKGTYFTHEAKGADDAADADTAIINAEGGQNNSEEKKEYFI", "length": 453, "header": "sp|Q9BY67-4|CADM1_HUMAN Isoform 4 of Cell adhesion molecule 1 OS=Homo sapiens OX=9606 GN=CADM1 PE=1 SV=2 CANONICAL=Q9BY67-1" }, "locus": { "chromosome": "11", "start_pos": 115504394, "end_pos": 115176477, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000537058.5", "url": "https://www.ensembl.org/id/ENST00000537058.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000439817.1", "url": "https://www.ensembl.org/id/ENSP00000439817.1" } ] } }, { "isoform_ac": "Q9BY67-5", "url": "", "sequence": { "sequence": "MASVVLPSGSQCAAAAAAAAPPGLRLRLLLLLFSAAALIPTGDGQNLFTKDVTVIEGEVATISCQVNKSDDSVIQLLNPNRQTIYFRDFRPLKDSRFQLLNFSSSELKVSLTNVSISDEGRYFCQLYTDPPQESYTTITVLVPPRNLMIDIQKDTAVEGEEIEVNCTAMASKPATTIRWFKGNTELKGKSEVEEWSDMYTVTSQLMLKVHKEDDGVPVICQVEHPAVTGNLQTQRYLEVQYKPQVHIQMTYPLQGLTREGDALELTCEAIGKPQPVMVTWVRVDDEMPQHAVLSGPNLFINNLNKTDNGTYRCEASNIVGKAHSDYMLYVYDSRAGEEGSIRAVDHAVIGGVVAVVVFAMLCLLIILGRYFARHKGTYFTHEAKGADDAADADTAIINAEGGQNNSEEKKEYFI", "length": 414, "header": "sp|Q9BY67-5|CADM1_HUMAN Isoform 5 of Cell adhesion molecule 1 OS=Homo sapiens OX=9606 GN=CADM1 PE=1 SV=2 CANONICAL=Q9BY67-1" }, "locus": { "chromosome": "11", "start_pos": 115504394, "end_pos": 115176477, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000542447.6", "url": "https://www.ensembl.org/id/ENST00000542447.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000439176.1", "url": "https://www.ensembl.org/id/ENSP00000439176.1" } ] } }, { "isoform_ac": "X5DQS5-1", "url": "", "sequence": { "sequence": "MASVVLPSGSQCAAAAAAAAPPGLRLRLLLLLFSAAALIPTGDGQNLFTKDVTVIEGEVATISCQVNKSDDSVIQLLNPNRQTIYFRDFRPLKDSRFQLLNFSSSELKVSLTNVSISDEGRYFCQLYTDPPQESYTTITVLVPPRNLMIDIQKDTAVEGEEIEVNCTAMASKPATTIRWFKGNTELKGKSEVEEWSDMYTVTSQLMLKVHKEDDGVPVICQVEHPAVTGNLQTQRYLEVQYKPQVHIQMTYPLQGLTREGDALELTCEAIGKPQPVMVTWVRVDDEMPQHAVLSGPNLFINNLNKTDNGTYRCEASNIVGKAHSDYMLYVYDTTATTEPAVHGLTQLPNSAEELDSEDLSDSRAGEEGSIRAVDHAVIGGVVAVVVFAMLCLLIILGRYFARHKGTYFTHEAKGADDAADADTAIINAEGGQNNSEEKKEYFI", "length": 443, "header": "tr|X5DQS5-1|X5DQS5_HUMAN Computationally mapped isoform of Cell adhesion molecule 1 isoform C OS=Homo sapiens OX=9606 GN=CADM1 PE=1 SV=1 CANONICAL=Q9BY67-1" }, "locus": { "chromosome": "11", "start_pos": 115504394, "end_pos": 115176477, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000536727.5", "url": "https://www.ensembl.org/id/ENST00000536727.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000440322.1", "url": "https://www.ensembl.org/id/ENSP00000440322.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G15169WU", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 101, "start_aa": "Asn", "end_pos": 101, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn101", "evidence": [ { "id": "1101", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1101" }, { "id": "30237853", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30237853" } ] }, { "glytoucan_ac": "G46665ZP", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 101, "start_aa": "Asn", "end_pos": 101, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn101", "evidence": [ { "id": "1101", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1101" }, { "id": "30237853", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30237853" } ] }, { "glytoucan_ac": "G47518TP", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 101, "start_aa": "Asn", "end_pos": 101, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn101", "evidence": [ { "id": "1101", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1101" }, { "id": "30237853", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30237853" } ] }, { "glytoucan_ac": "G48414YA", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 101, "start_aa": "Asn", "end_pos": 101, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn101", "evidence": [ { "id": "1101", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1101" }, { "id": "29391424", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29391424" } ] }, { "glytoucan_ac": "G52890YB", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 101, "start_aa": "Asn", "end_pos": 101, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn101", "evidence": [ { "id": "1101", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1101" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G57888GL", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 101, "start_aa": "Asn", "end_pos": 101, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn101", "evidence": [ { "id": "1101", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1101" }, { "id": "29391424", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29391424" } ] }, { "glytoucan_ac": "G64394MX", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 101, "start_aa": "Asn", "end_pos": 101, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn101", "evidence": [ { "id": "1101", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1101" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G92081HT", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 101, "start_aa": "Asn", "end_pos": 101, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn101", "evidence": [ { "id": "1101", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1101" }, { "id": "30237853", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30237853" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 101, "start_aa": "Asn", "end_pos": 101, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn101", "evidence": [ { "id": "Q9BY67", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9BY67#ptm_processing" }, { "id": "19349973", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19349973" }, { "id": "19159218", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19159218" }, { "id": "16335952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/16335952" }, { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" }, { "id": "23090970", 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Chem.", "date": "2002", "authors": "Masuda M, Yageta M, Fukuhara H, Kuramochi M, Maruyama T, Nomoto A, Murakami Y", "evidence": [ { "database": "UniProtKB", "id": "Q9BY67", "url": "https://www.uniprot.org/uniprot/Q9BY67" }, { "database": "Reactome", "id": "R-HSA-418990", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418990" }, { "database": "RefSeq", "id": "NP_001287974", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287974" }, { "database": "RefSeq", "id": "NP_001091987", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001091987" } ], "reference": [ { "type": "PubMed", "id": "12050160", "url": "https://glygen.org/publication/PubMed/12050160" } ] }, { "title": "Promoter methylation of TSLC1 and tumor suppression by its gene product in human prostate cancer.", "journal": "Japanese journal of cancer research : Gann", "date": "2002", "authors": "Fukuhara H, Kuramochi M, Fukami T, Kasahara K, Furuhata M, Nobukuni T, Maruyama T, Isogai K, Sekiya T, Shuin T, Kitamura T, Reeves RH, Murakami Y", "evidence": [ { "database": "RefSeq", "id": "NP_001287974", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287974" }, { "database": "RefSeq", "id": "NP_001091987", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001091987" } ], "reference": [ { "type": "PubMed", "id": "12079507", "url": "https://glygen.org/publication/PubMed/12079507" } ] }, { "title": "Analysis of 11q21-24 loss of heterozygosity candidate target genes in breast cancer: indications of TSLC1 promoter hypermethylation.", "journal": "Genes, chromosomes & cancer", "date": "2002", "authors": "Allinen M, Peri L, Kujala S, Lahti-Domenici J, Outila K, Karppinen SM, Launonen V, Winqvist R", "evidence": [ { "database": "RefSeq", "id": "NP_001287974", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287974" }, { "database": "RefSeq", "id": "NP_001091987", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001091987" } ], "reference": [ { "type": "PubMed", "id": "12112527", "url": "https://glygen.org/publication/PubMed/12112527" } ] }, { "title": "Direct association of TSLC1 and DAL-1, two distinct tumor suppressor proteins in lung cancer.", "journal": "Cancer Res.", "date": "2002", "authors": "Fukami T., Maruyama T., Murakami Y., Shibuya M., Masuda M., Fukuhara H., Kuramochi M., Yageta M.", "evidence": [ { "database": "UniProtKB", "id": "Q9BY67", "url": "https://www.uniprot.org/uniprot/Q9BY67" } ], "reference": [ { "type": "PubMed", "id": "12234973", "url": "https://glygen.org/publication/PubMed/12234973" } ] }, { "title": "Recruitment of nectin-3 to cell-cell junctions through trans-heterophilic interaction with CD155, a vitronectin and poliovirus receptor that localizes to alpha(v)beta3 integrin-containing membrane microdomains.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Mueller S, Wimmer E", "evidence": [ { "database": "Reactome", "id": "R-HSA-420597", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-420597" } ], "reference": [ { "type": "PubMed", "id": "12759359", "url": "https://glygen.org/publication/PubMed/12759359" } ] }, { "title": "Expression of the TSLC1 adhesion molecule in pulmonary epithelium and its down-regulation in pulmonary adenocarcinoma other than bronchioloalveolar carcinoma.", "journal": "Lab. Invest.", "date": "2003", "authors": "Kitamura Y., Okada M., Ito A., Iseki S., Koma Y., Okita Y., Tsubota N., Uchino K., Wakayama T.", "evidence": [ { "database": "UniProtKB", "id": "Q9BY67", "url": "https://www.uniprot.org/uniprot/Q9BY67" } ], "reference": [ { "type": "PubMed", "id": "12920246", "url": "https://glygen.org/publication/PubMed/12920246" } ] }, { "title": "Promoter methylation of the TSLC1 gene in advanced lung tumors and various cancer cell lines.", "journal": "Int. J. Cancer", "date": "2003", "authors": "Fukami T., Maruyama T., Murakami Y., Sakamoto M., Fukuhara H., Isogai K., Kuramochi M., Takamoto S.", "evidence": [ { "database": "UniProtKB", "id": "Q9BY67", "url": "https://www.uniprot.org/uniprot/Q9BY67" } ], "reference": [ { "type": "PubMed", "id": "12925956", "url": "https://glygen.org/publication/PubMed/12925956" } ] }, { "title": "Association of a lung tumor suppressor TSLC1 with MPP3, a human homologue of Drosophila tumor suppressor Dlg.", "journal": "Oncogene", "date": "2003", "authors": "Fukuhara H, Masuda M, Yageta M, Fukami T, Kuramochi M, Maruyama T, Kitamura T, Murakami Y", "evidence": [ { "database": "UniProtKB", "id": "Q9BY67", "url": "https://www.uniprot.org/uniprot/Q9BY67" } ], "reference": [ { "type": "PubMed", "id": "13679854", "url": "https://glygen.org/publication/PubMed/13679854" } ] }, { "title": "The cytoplasmic domain is critical to the tumor suppressor activity of TSLC1 in non-small cell lung cancer.", "journal": "Cancer Res.", "date": "2003", "authors": "Murakami Y., Mao X., Ghosh H.P., Ghosh K., Seidlitz E.", "evidence": [ { "database": "UniProtKB", "id": "Q9BY67", "url": "https://www.uniprot.org/uniprot/Q9BY67" } ], "reference": [ { "type": "PubMed", "id": "14633730", "url": "https://glygen.org/publication/PubMed/14633730" } ] }, { "title": "Re-expression of TSLC1 in a non-small-cell lung cancer cell line induces apoptosis and inhibits tumor growth.", "journal": "Oncogene", "date": "2004", "authors": "Mao X., Ghosh H.P., Hitt M., Seidlitz E., Truant R.", "evidence": [ { "database": "UniProtKB", "id": "Q9BY67", "url": "https://www.uniprot.org/uniprot/Q9BY67" } ], "reference": [ { "type": "PubMed", "id": "15184878", "url": "https://glygen.org/publication/PubMed/15184878" } ] }, { "title": "Nectin-like molecule-1/TSLL1/SynCAM3: a neural tissue-specific immunoglobulin-like cell-cell adhesion molecule localizing at non-junctional contact sites of presynaptic nerve terminals, axons and glia cell processes.", "journal": "Journal of cell science", "date": "2005", "authors": "Kakunaga S, Ikeda W, Itoh S, Deguchi-Tawarada M, Ohtsuka T, Mizoguchi A, Takai Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-420597", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-420597" } ], "reference": [ { "type": "PubMed", "id": "15741237", "url": "https://glygen.org/publication/PubMed/15741237" } ] }, { "title": "Nectin-like protein 2 defines a subset of T-cell zone dendritic cells and is a ligand for class-I-restricted T-cell-associated molecule.", "journal": "J. Biol. Chem.", "date": "2005", "authors": "Galibert L, Diemer GS, Liu Z, Johnson RS, Smith JL, Walzer T, Comeau MR, Rauch CT, Wolfson MF, Sorensen RA, Van der Vuurst de Vries AR, Branstetter DG, Koelling RM, Scholler J, Fanslow WC, Baum PR, Derry JM, Yan W", "evidence": [ { "database": "UniProtKB", "id": "Q9BY67", "url": "https://www.uniprot.org/uniprot/Q9BY67" } ], "reference": [ { "type": "PubMed", "id": "15781451", "url": "https://glygen.org/publication/PubMed/15781451" } ] }, { "title": "The tumor suppressor TSLC1/NECL-2 triggers NK-cell and CD8+ T-cell responses through the cell-surface receptor CRTAM.", "journal": "Blood", "date": "2005", "authors": "Boles KS, Barchet W, Diacovo T, Cella M, Colonna M", "evidence": [ { "database": "UniProtKB", "id": "Q9BY67", "url": "https://www.uniprot.org/uniprot/Q9BY67" } ], "reference": [ { "type": "PubMed", "id": "15811952", "url": "https://glygen.org/publication/PubMed/15811952" } ] }, { "title": "Nectin-like molecule 1 is a protein 4.1N associated protein and recruits protein 4.1N from cytoplasm to the plasma membrane.", "journal": "Biochim. 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