{ "uniprot_canonical_ac": "O75309-1", "uniprot_ac": "O75309", "uniprot_id": "CAD16_HUMAN", "mass": { "chemical_mass": 89923.0, "monoisotopic_mass": 89923.0 }, "refseq": { "ac": "NP_001191673", "name": "cadherin-16 isoform 2 precursor", "summary": "This gene is a member of the cadherin superfamily, genes encoding calcium-dependent, membrane-associated glycoproteins. Mapped to a previously identified cluster of cadherin genes on chromosome 16q22.1, the gene localizes with superfamily members CDH1, CDH3, CDH5, CDH8 and CDH11. The protein consists of an extracellular domain containing 6 cadherin domains, a transmembrane region and a truncated cytoplasmic domain but lacks the prosequence and tripeptide HAV adhesion recognition sequence typical of most classical cadherins. Expression is exclusively in kidney, where the protein functions as the principal mediator of homotypic cellular recognition, playing a role in the morphogenic direction of tissue development. Alternatively spliced transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Mar 2011].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001191673" }, "gene_names": [ { "name": "CDH16", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O75309", "id": "O75309" }, { "name": "CDH16", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001191673", "id": "NP_001191673" }, { "name": "PRO1340", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O75309", "id": "O75309" } ], "protein_names": [ { "name": "Cadherin-16", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O75309" }, { "name": "Kidney-specific cadherin", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75309" }, { "name": "Ksp-cadherin", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75309" }, { "name": "cadherin-16 isoform 2 precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001191673", "id": "NP_001191673" }, { "name": "kidney-specific cadherin; KSP-cadherin; cadherin 16, KSP-cadherin", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001191673", "id": "NP_001191673" } ], "function": [ { "annotation": "Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types.", "evidence": [ { "database": "UniProtKB", "id": "O75309", "url": "https://www.uniprot.org/uniprot/O75309#function" } ] }, { "annotation": "In thyroid carcinomas, as determined by quantitative RT-PCR, CDH16 expression decreases in papillary, follicular, and anaplastic thyroid carcinomas, and the decrease is more pronounced than that of CDH1.", "evidence": [ { "database": "RefSeq", "id": "NP_001191673", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001191673" }, { "database": "PubMed", "id": "22028439", "url": "https://glygen.org/publication/PubMed/22028439" } ] }, { "annotation": "Loss of CDH16 expression is a strong independent predictor for lymph node metastasis in Middle Eastern papillary thyroid cancer. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001191673", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001191673" }, { "database": "PubMed", "id": "37899424", "url": "https://glygen.org/publication/PubMed/37899424" } ] }, { "annotation": "Our study expands the clinical and allelic spectrum of known Retinal dystrophies genes, and reveals AGBL5, CDH16, and DNAJC17 as novel disease candidates.", "evidence": [ { "database": "RefSeq", "id": "NP_001191673", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001191673" }, { "database": "PubMed", "id": "26355662", "url": "https://glygen.org/publication/PubMed/26355662" } ] }, { "annotation": "Reduced CDH16 expression is linked to poor prognosis in clear cell renal cell carcinoma 16.", "evidence": [ { "database": "RefSeq", "id": "NP_001191673", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001191673" }, { "database": "PubMed", "id": "35606285", "url": "https://glygen.org/publication/PubMed/35606285" } ] }, { "annotation": "This gene is a member of the cadherin superfamily, genes encoding calcium-dependent, membrane-associated glycoproteins. Mapped to a previously identified cluster of cadherin genes on chromosome 16q22.1, the gene localizes with superfamily members CDH1, CDH3, CDH5, CDH8 and CDH11. The protein consists of an extracellular domain containing 6 cadherin domains, a transmembrane region and a truncated cytoplasmic domain but lacks the prosequence and tripeptide HAV adhesion recognition sequence typical of most classical cadherins. Expression is exclusively in kidney, where the protein functions as the principal mediator of homotypic cellular recognition, playing a role in the morphogenic direction of tissue development. Alternatively spliced transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Mar 2011].", "evidence": [ { "database": "RefSeq", "id": "NP_001191673", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001191673" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs894728692", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs894728692" }, { "id": "rs894728692", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs894728692#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 194, "end_pos": 194, "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (KGS->NGS).", "chr_id": "16", "chr_pos": "66915221", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K194", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs781062867", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781062867" }, { "id": "rs781062867", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781062867" }, { "id": "rs781062867", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs781062867#frequency_tab" }, { "id": "rs781062867", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs781062867" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 262, "end_pos": 262, "sequence_org": "H", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (HWS->NWS).", "chr_id": "16", "chr_pos": "66913610", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H262", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs765909313", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765909313" }, { "id": "rs765909313", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765909313" }, { "id": "rs765909313", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs765909313#frequency_tab" }, { "id": "rs765909313", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs765909313" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 334, "end_pos": 334, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NVP->NVS).", "chr_id": "16", "chr_pos": "66913185", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P334", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O75309", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O75309" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 38, "end_pos": 38, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (NFP->NFS).", "chr_id": "16", "chr_pos": "66917659", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P38", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "O75309", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O75309" } ], "glycoeffect": [], "start_pos": 436, "end_pos": 436, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "16", "chr_pos": "66912557", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E436", "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL 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"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", 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"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 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"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, 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"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": "Yes", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O75309", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75309" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "O75309", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75309" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] } ] }, { "significant": "No", "trend": "up", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "O75309", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75309" } ], "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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"database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75309-2", "url": "https://www.uniprot.org/uniprot/O75309-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75309-3", "url": "https://www.uniprot.org/uniprot/O75309-3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75309-4", "url": "https://www.uniprot.org/uniprot/O75309-4", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MVPAWLWLLCVSVPQALPKAQPAELSVEVPENYGGNFPLYLTKLPLPREGAEGQIVLSGDSGKATEGPFAMDPDSGFLLVTRALDREEQAEYQLQVTLEMQDGHVLWGPQPVLVHVKDENDQVPHFSQAIYRARLSRGTRPGIPFLFLEASDRDEPGTANSDLRFHILSQAPAQPSPDMFQLEPRLGALALSPKGSTSLDHALERTYQLLVQVKDMGDQASGHQATATVEVSIIESTWVSLEPIHLAENLKVLYPHHMAQVHWSGGDVHYHLESHPPGPFEVNAEGNLYVTRELDREAQAEYLLQVRAQNSHGEDYAAPLELHVLVMDENDNVPICPPRDPTVSIPELSPPGTEVTRLSAEDADAPGSPNSHVVYQLLSPEPEDGVEGRAFQVDPTSGSVTLGVLPLRAGQNILLLVLAMDLAGAEGGFSSTCEVEVAVTDINDHAPEFITSQIGPISLPEDVEPGTLVAMLTAIDADLEPAFRLMDFAIERGDTEGTFGLDWEPDSGHVRLRLCKNLSYEAAPSHEVVVVVQSVAKLVGPGPGPGATATVTVLVERVMPPPKLDQESYEASVPISAPAGSFLLTIQPSDPISRTLRFSLVNDSEGWLCIEKFSGEVHTAQSLQGAQPGDTYTVLVEAQDTDEPRLSASAPLVIHFLKAPPAPALTLAPVPSQYLCTPRQDHGLIVSGPSKDPDLASGHGPYSFTLGPNPTVQRDWRLQTLNGSHAYLTLALHWVEPREHIIPVVVSHNAQMWQLLVRVIVCRCNVEGQCMRKVGRMKGMPTKLSAVGILVGTLVAIGIFLILIFTHWTMSRKKDPDQPADSVPLKATV", "length": 829, "header": "sp|O75309-1|CAD16_HUMAN Isoform 1 of Cadherin-16 OS=Homo sapiens OX=9606 GN=CDH16 PE=1 SV=1 CANONICAL=O75309-1" }, "isoforms": [ { "isoform_ac": "A0A0B4J288-1", "url": "", "sequence": { "sequence": "MVPAWLWLLCVSVPQALPKAQPAELSVEVPENYGGNFPLYLTKLPLPREGAEGQIVLSGDSGKATEGPFAMDPDSGFLLVTRALDREEQAEYQLQVTLEMQDGHVLWGPQPVLVHVKDENDQVPHFSQAIYRARLSRGTRPVCPPTVNQASPSSSLRLQTGMSQAQPTRIFDSTS", "length": 175, "header": "tr|A0A0B4J288-1|A0A0B4J288_HUMAN Computationally mapped isoform of Cadherin 16 OS=Homo sapiens OX=9606 GN=CDH16 PE=1 SV=1 CANONICAL=O75309-1" }, "locus": { "chromosome": "16", "start_pos": 66918065, "end_pos": 66915301, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000567269.5", "url": "https://www.ensembl.org/id/ENST00000567269.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000455523.1", "url": "https://www.ensembl.org/id/ENSP00000455523.1" } ] } }, { "isoform_ac": "H3BSG2-1", "url": "", "sequence": { "sequence": "MVPAWLWLLCVSVPQVTLEMQDGHVLWGPQPVLVHVKDENDQVPHFSQAIYRARLSRGTRPGIPFLFLEASDRDEPGTANSDLRFHILSQAPAQPSPDMFQLEPRLGALALSPKGSTSLDHALERTYQLLVQVKDMGDQASGHQATATVEVSIIESTWVSLEPIHLAENLKVLYPHHMAQVHWSGGDVHYHLESHPPGPFEVNAEGNLYVTRELDREAQAEYLLQVRAQNSHGEDYAAPLELHVLVMDENDNVPICPPRDPTVSIPELSPPGTEVTRLSAEDADAPGSPNSHVVYQLLSPEPEDGVEGRAFQVDPTSGSVTLGVLPLRAGQNILLLVLAMDLAGAEGGFSSTCEVEVAVTDINDHAPEFITSQIGPISLPEDVEPGTLVAMLTAIDADLEPAFRLMDFAIERGDTEGTFGLDWEPDSGHVRLRLCKNLSYEAAPSHEVVVVVQSVAKLVGPGPGPGATATVTVLVERVMPPPKLDQESYEASVPISAPAGSFLLTIQPSDPISRTLRFSLVNDSEGWLCIEKFSGEVHTAQSLQGAQPGDTYTVLVEAQDTDEPRLSASAPLVIHFLKAPPAPALTLAPVPSQYLCTPRQDHGLIVSGPSKDPDLASGHGPYSFTLGPNPTVQRDWRLQTLNGSHAYLTLALHWVEPREHIIPVVVSHNAQMWQLLVRVIVCRCNVEGQCMRKVGRMKGMPTKLSAVGILVGTLVAIGIFLILIFTHWTMSRKKDPDQPADSVPLKATV", "length": 749, "header": "tr|H3BSG2-1|H3BSG2_HUMAN Computationally mapped isoform of Cadherin 16 OS=Homo sapiens OX=9606 GN=CDH16 PE=1 SV=1 CANONICAL=O75309-1" }, "locus": { "chromosome": "16", "start_pos": 66918065, "end_pos": 66908395, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000570262.5", "url": "https://www.ensembl.org/id/ENST00000570262.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000456690.1", "url": "https://www.ensembl.org/id/ENSP00000456690.1" } ] } }, { "isoform_ac": "H3BSV3-1", "url": "", "sequence": { "sequence": "MVPAWLWLLCVSVPQALPKAQPAELSVEVPENYGGNFPLYLTKLPLPREGAEGQIVLSGDSGKATEGPFAMDPDSGFLLVTRALDREEQAEYQLQVTLEMQDGHVLWGPQPVLVHVKDENDQVPHFSQAIYRARLSRGTRPGIPFLFLEASDRDEPGTANSDLRFHILSQAPAQPSPDMFQLEPRLGALALSPKGSTSLDHALERTYQLLVQVKDMGDQASGHQATATVEGRHRRDFWPGLGARLWAC", "length": 248, "header": "tr|H3BSV3-1|H3BSV3_HUMAN Computationally mapped isoform of Cadherin 16 OS=Homo sapiens OX=9606 GN=CDH16 PE=1 SV=1 CANONICAL=O75309-1" }, "locus": { "chromosome": "16", "start_pos": 66918065, "end_pos": 66912261, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000568698.5", "url": "https://www.ensembl.org/id/ENST00000568698.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000456891.1", "url": "https://www.ensembl.org/id/ENSP00000456891.1" } ] } }, { "isoform_ac": "I3L418-1", "url": "", "sequence": { "sequence": "IVLSGDSGKATEGPFAMDPDSGFLLVTRALDREEQAEYQLQVTLEMQDGHVLWGPQPVLVHVKDENDQVPHFSQAIYRARLSRGTRPGIPFLFLEASDRDEPGTANSDLRFHILSQAPAQPSPDMFQLEPRLGALALSPKGSTSLDHALERTYQLLVQVKDMGDQASGHQATATVEVSIIESTWVSLEPIHLAENLKVLYPHHMAQYLLQVRAQNSHGEDYAAPLELHVLVMDENDNV", "length": 238, "header": "tr|I3L418-1|CAD16_HUMAN Computationally mapped isoform of Cadherin-16 OS=Homo sapiens OX=9606 GN=CDH16 PE=1 SV=1 CANONICAL=O75309-1" }, "locus": { "chromosome": "16", "start_pos": 66916396, "end_pos": 66913186, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000567009.5", "url": "https://www.ensembl.org/id/ENST00000567009.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000460891.1", "url": "https://www.ensembl.org/id/ENSP00000460891.1" } ] } }, { "isoform_ac": "J3QLA1-1", "url": "", "sequence": { "sequence": "MDPDSGFLLVTRALDREEQAEYQLQVTLEMQDGHVLWGPQPVLVHVKDENDQVPHFSQAIYRARLSRGTRPGIPFLFLEASDRDEPGTANSDLRFHILSQAPAQPSPDMFQLEPRLGALALSPK", "length": 124, "header": "tr|J3QLA1-1|CAD16_HUMAN Computationally mapped isoform of Cadherin-16 OS=Homo sapiens OX=9606 GN=CDH16 PE=1 SV=1 CANONICAL=O75309-1" }, "locus": { "chromosome": "16", "start_pos": 66916348, "end_pos": 66915221, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000565235.2", "url": "https://www.ensembl.org/id/ENST00000565235.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000463451.1", "url": "https://www.ensembl.org/id/ENSP00000463451.1" } ] } }, { "isoform_ac": "O75309-1", "url": "", "sequence": { "sequence": "MVPAWLWLLCVSVPQALPKAQPAELSVEVPENYGGNFPLYLTKLPLPREGAEGQIVLSGDSGKATEGPFAMDPDSGFLLVTRALDREEQAEYQLQVTLEMQDGHVLWGPQPVLVHVKDENDQVPHFSQAIYRARLSRGTRPGIPFLFLEASDRDEPGTANSDLRFHILSQAPAQPSPDMFQLEPRLGALALSPKGSTSLDHALERTYQLLVQVKDMGDQASGHQATATVEVSIIESTWVSLEPIHLAENLKVLYPHHMAQVHWSGGDVHYHLESHPPGPFEVNAEGNLYVTRELDREAQAEYLLQVRAQNSHGEDYAAPLELHVLVMDENDNVPICPPRDPTVSIPELSPPGTEVTRLSAEDADAPGSPNSHVVYQLLSPEPEDGVEGRAFQVDPTSGSVTLGVLPLRAGQNILLLVLAMDLAGAEGGFSSTCEVEVAVTDINDHAPEFITSQIGPISLPEDVEPGTLVAMLTAIDADLEPAFRLMDFAIERGDTEGTFGLDWEPDSGHVRLRLCKNLSYEAAPSHEVVVVVQSVAKLVGPGPGPGATATVTVLVERVMPPPKLDQESYEASVPISAPAGSFLLTIQPSDPISRTLRFSLVNDSEGWLCIEKFSGEVHTAQSLQGAQPGDTYTVLVEAQDTDEPRLSASAPLVIHFLKAPPAPALTLAPVPSQYLCTPRQDHGLIVSGPSKDPDLASGHGPYSFTLGPNPTVQRDWRLQTLNGSHAYLTLALHWVEPREHIIPVVVSHNAQMWQLLVRVIVCRCNVEGQCMRKVGRMKGMPTKLSAVGILVGTLVAIGIFLILIFTHWTMSRKKDPDQPADSVPLKATV", "length": 829, "header": "sp|O75309-1|CAD16_HUMAN Isoform 1 of Cadherin-16 OS=Homo sapiens OX=9606 GN=CDH16 PE=1 SV=1 CANONICAL=O75309-1" }, "locus": { "chromosome": "16", "start_pos": 66918065, "end_pos": 66908395, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000299752.9", "url": "https://www.ensembl.org/id/ENST00000299752.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000299752.4", "url": "https://www.ensembl.org/id/ENSP00000299752.4" } ] } }, { "isoform_ac": "O75309-2", "url": "", "sequence": { "sequence": "MVPAWLWLLCVSVPQALPKAQPAELSVEVPENYGGNFPLYLTKLPLPREGAEGQIVLSGDSGKATEGPFAMDPDSGFLLVTRALDREEQAEYQLQVTLEMQDGHVLWGPQPVLVHVKDENDQVPHFSQAIYRARLSRGTRPGIPFLFLEASDRDEPGTANSDLRFHILSQAPAQPSPDMFQLEPRLGALALSPKGSTSLDHALERTYQLLVQVKDMGDQASGHQATATVEVSIIESTWVSLEPIHLAENLKVLYPHHMAQVHWSGGDVHYHLESHPPGPFEVNAEGNLYVTRELDREAQAEYLLQVRAQNSHGEDYAAPLELHVLVMDENDNVPICPPRDPTVSIPELSPPGTEVTRLSAEDADAPGSPNSHVVYQLLSPEPEDGVEGRAFQVDPTSGSVTLGVLPLRAGQNILLLVLAMDLAGAEGGFSSTCEVEVAVTDINDHAPEFITSQIGPISLPEDVEPGTLVAMLTAIDADLEPAFRLMDFAIERGDTEGTFGLDWEPDSGHVRLRLCKNLSYEAAPSHEVVVVVQSVAKLVGPGPGPGATATVTVLVERVMPPPKLDQESYEASVPISAPAGSFLLTIQPSDPISRTLRFSLVNDSEGWLCIEKFSGEVHTAQSLQGAQPGDTYTVLVEAQDTALTLAPVPSQYLCTPRQDHGLIVSGPSKDPDLASGHGPYSFTLGPNPTVQRDWRLQTLNGSHAYLTLALHWVEPREHIIPVVVSHNAQMWQLLVRVIVCRCNVEGQCMRKVGRMKGMPTKLSAVGILVGTLVAIGIFLILIFTHWTMSRKKDPDQPADSVPLKATV", "length": 807, "header": "sp|O75309-2|CAD16_HUMAN Isoform 2 of Cadherin-16 OS=Homo sapiens OX=9606 GN=CDH16 PE=1 SV=1 CANONICAL=O75309-1" }, "locus": { "chromosome": "16", "start_pos": 66918065, "end_pos": 66908395, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000394055.7", "url": "https://www.ensembl.org/id/ENST00000394055.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000377619.3", "url": "https://www.ensembl.org/id/ENSP00000377619.3" } ] } }, { "isoform_ac": "O75309-3", "url": "", "sequence": { "sequence": "MVPAWLWLLCVSVPQALPKAQPAELSVEVPENYGGNFPLYLTKLPLPREGAEGQIVLSGDSGKATEGPFAMDPDSGFLLVTRALDREEQAEYQLQVTLEMQDGHVLWGPQPVLVHVKDENDQASGHQATATVEVSIIESTWVSLEPIHLAENLKVLYPHHMAQVHWSGGDVHYHLESHPPGPFEVNAEGNLYVTRELDREAQAEYLLQVRAQNSHGEDYAAPLELHVLVMDENDNVPICPPRDPTVSIPELSPPGTEVTRLSAEDADAPGSPNSHVVYQLLSPEPEDGVEGRAFQVDPTSGSVTLGVLPLRAGQNILLLVLAMDLAGAEGGFSSTCEVEVAVTDINDHAPEFITSQIGPISLPEDVEPGTLVAMLTAIDADLEPAFRLMDFAIERGDTEGTFGLDWEPDSGHVRLRLCKNLSYEAAPSHEVVVVVQSVAKLVGPGPGPGATATVTVLVERVMPPPKLDQESYEASVPISAPAGSFLLTIQPSDPISRTLRFSLVNDSEGWLCIEKFSGEVHTAQSLQGAQPGDTYTVLVEAQDTDEPRLSASAPLVIHFLKAPPAPALTLAPVPSQYLCTPRQDHGLIVSGPSKDPDLASGHGPYSFTLGPNPTVQRDWRLQTLNGSHAYLTLALHWVEPREHIIPVVVSHNAQMWQLLVRVIVCRCNVEGQCMRKVGRMKGMPTKLSAVGILVGTLVAIGIFLILIFTHWTMSRKKDPDQPADSVPLKATV", "length": 732, "header": "sp|O75309-3|CAD16_HUMAN Isoform 3 of Cadherin-16 OS=Homo sapiens OX=9606 GN=CDH16 PE=1 SV=1 CANONICAL=O75309-1" }, "locus": { "chromosome": "16", "start_pos": 66918065, "end_pos": 66908395, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000568632.5", "url": "https://www.ensembl.org/id/ENST00000568632.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000455263.1", "url": "https://www.ensembl.org/id/ENSP00000455263.1" } ] } }, { "isoform_ac": "O75309-4", "url": "", "sequence": { "sequence": "MVPAWLWLLCVSVPQALPKAQPAELSVEVPENYGGNFPLYLTKLPLPREGAEGQIVLSGDSGKATEGPFAMDPDSGFLLVTRALDREEQAEYQLQVTLEMQDGHVLWGPQPVLVHVKDENDQVPHFSQAIYRARLSRGTRPGIPFLFLEASDRDEPGTANSDLRFHILSQAPAQPSPDMFQLEPRLGALALSPKGSTSLDHALERTYQLLVQVKDMGDQASGHQATATVEVSIIESTWVSLEPIHLAENLKVLYPHHMAQVHWSGGDVHYHLESHPPGPFEVNAEGNLYVTRELDREAQAEYLLQVRAQNSHGEDYAAPLELHVLVMDENDNVPICPPRDPTVSIPELSPPGTEVTRLSAEDADAPGSPNSHVVYQLLSPEPEDGVEGRAFQVDPTSGSVTLGVLPLRAGQNILLLVLAMDLAGAEGGFSSTCEVEVAVTDINDHAPEFITSQIGPISLPEDVEPGTLVAMLTAIDADLEPAFRLMDFAIERGDTEGTFGLDWEPDSGHVRLRLCKNLSYEAAPSHEVVVVVQSVAKLVGPGPGPGATATVTVLVERVMPPPKLDQESYEASVPISAPAGSFLLTIQPSDPISRTLRFSLVNDSEGWLCIEKFSGEVHTAQSLQGAQPGDTYTVLVEAQDTDHGLIVSGPSKDPDLASGHGPYSFTLGPNPTVQRDWRLQTLNGSHAYLTLALHWVEPREHIIPVVVSHNAQMWQLLVRVIVCRCNVEGQCMRKVGRMKGMPTKLSAVGILVGTLVAIGIFLILIFTHWTMSRKKDPDQPADSVPLKATV", "length": 790, "header": "sp|O75309-4|CAD16_HUMAN Isoform 4 of Cadherin-16 OS=Homo sapiens OX=9606 GN=CDH16 PE=1 SV=1 CANONICAL=O75309-1" }, "locus": { "chromosome": "16", "start_pos": 66918065, "end_pos": 66908395, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000565796.5", "url": "https://www.ensembl.org/id/ENST00000565796.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000454784.1", "url": "https://www.ensembl.org/id/ENSP00000454784.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 517, "start_aa": "Asn", "end_pos": 517, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn517", "evidence": [ { "id": "O75309", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75309#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 602, "start_aa": "Asn", "end_pos": 602, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn602", "evidence": [ { "id": "O75309", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75309#ptm_processing" } ] }, { "glytoucan_ac": "G43417UB", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 65, "start_aa": "Thr", "end_pos": 65, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr65", "evidence": [ { "id": "O75309", "database": "UniCarbKB", "url": "" }, { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" } ] }, { "glytoucan_ac": "G43417UB", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 666, "start_aa": "Thr", "end_pos": 666, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr666", "evidence": [ { "id": "O75309", "database": "UniCarbKB", "url": "" }, { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" } ] }, { "glytoucan_ac": "G43417UB", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 705, "start_aa": "Thr", "end_pos": 705, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr705", "evidence": [ { "id": "O75309", "database": "UniCarbKB", "url": "" }, { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 722, "start_aa": "Asn", "end_pos": 722, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn722", "evidence": [ { "id": "O75309", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75309#ptm_processing" } ] } ], "phosphorylation": [ { "start_pos": 822, "end_pos": 822, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O75309", "url": "https://www.uniprot.org/uniprot/O75309" } ], "site_lbl": "Ser822" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan", "glycoprotein_predicted" ], "publication": [ { "title": "The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment.", "journal": "Genome Res.", "date": "2003", "authors": "Clark HF, Gurney AL, Abaya E, Baker K, Baldwin D, Brush J, Chen J, Chow B, Chui C, Crowley C, Currell B, Deuel B, Dowd P, Eaton D, Foster J, Grimaldi C, Gu Q, Hass PE, Heldens S, Huang A, Kim HS, Klimowski L, Jin Y, Johnson S, Lee J, Lewis L, Liao D, Mark M, Robbie E, Sanchez C, Schoenfeld J, Seshagiri S, Simmons L, Singh J, Smith V, Stinson J, Vagts A, Vandlen R, Watanabe C, Wieand D, Woods K, Xie MH, Yansura D, Yi S, Yu G, Yuan J, Zhang M, Zhang Z, Goddard A, Wood WI, Godowski P, Gray A", "evidence": [ { "database": "UniProtKB", "id": "O75309", "url": "https://www.uniprot.org/uniprot/O75309" } ], "reference": [ { "type": "PubMed", "id": "12975309", "url": "https://glygen.org/publication/PubMed/12975309" } ] }, { "title": "CDH16/Ksp-cadherin is expressed in the developing thyroid gland and is strongly down-regulated in thyroid carcinomas.", "journal": "Endocrinology", "date": "2012", "authors": "Cali G, Gentile F, Mogavero S, Pallante P, Nitsch R, Ciancia G, Ferraro A, Fusco A, Nitsch L", "evidence": [ { "database": "RefSeq", "id": "NP_001191673", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001191673" } ], "reference": [ { "type": "PubMed", "id": "22028439", "url": "https://glygen.org/publication/PubMed/22028439" } ] }, { "title": "Expanding the clinical, allelic, and locus heterogeneity of retinal dystrophies.", "journal": "Genetics in medicine : official journal of the American College of Medical Genetics", "date": "2016", "authors": "Patel N, Aldahmesh MA, Alkuraya H, Anazi S, Alsharif H, Khan AO, Sunker A, Al-Mohsen S, Abboud EB, Nowilaty SR, Alowain M, Al-Zaidan H, Al-Saud B, Alasmari A, Abdel-Salam GM, Abouelhoda M, Abdulwahab FM, Ibrahim N, Naim E, Al-Younes B, E AlMostafa A, AlIssa A, Hashem M, Buzovetsky O, Xiong Y, Monies D, Altassan N, Shaheen R, Al-Hazzaa SA, Alkuraya FS", "evidence": [ { "database": "RefSeq", "id": "NP_001191673", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001191673" } ], "reference": [ { "type": "PubMed", "id": "26355662", "url": "https://glygen.org/publication/PubMed/26355662" } ] }, { "title": "Mapping the O-glycoproteome using site-specific extraction of O-linked glycopeptides (EXoO).", "journal": "Molecular systems biology", "date": "2018", "authors": "Yang W, Ao M, Hu Y, Li QK, Zhang H", "evidence": [ { "database": "UniCarbKB", "id": "O75309", "url": "" } ], "reference": [ { "type": "PubMed", "id": "30459171", "url": "https://glygen.org/publication/PubMed/30459171" } ] }, { "title": "Reduced CDH16 expression is linked to poor prognosis in clear cell renal cell carcinoma 16.", "journal": "Urologic oncology", "date": "2022", "authors": "Lennartz M, Csomos H, Bernreuther C, Buscheck F, Fraune C, Simon R, Sauter G, Steurer S, Eichenauer T, Dahlem R, Fisch M, Riechardt S, Rink M, Minner S, Hoflmayer D", "evidence": [ { "database": "RefSeq", "id": "NP_001191673", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001191673" } ], "reference": [ { "type": "PubMed", "id": "35606285", "url": "https://glygen.org/publication/PubMed/35606285" } ] }, { "title": "Loss of CDH16 expression is a strong independent predictor for lymph node metastasis in Middle Eastern papillary thyroid cancer.", "journal": "Scientific reports", "date": "2023-10-29", "authors": "Siraj Abdul K, Parvathareddy Sandeep Kumar, Al-Rasheed Maha, Annaiyappanaidu Padmanaban, Siraj Nabil, Lennartz Maximilian, Al-Sobhi Saif S, Al-Dayel Fouad, Sauter Guido, Al-Kuraya Khawla S", "evidence": [ { "database": "RefSeq", "id": "NP_001191673", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001191673" } ], "reference": [ { "type": "PubMed", "id": "37899424", "url": "https://glygen.org/publication/PubMed/37899424" } ] }, { "title": "cDNA cloning and chromosomal localization of the human and mouse isoforms of Ksp-cadherin.", "journal": "Genomics", "date": "1998", "authors": "Thomson RB, Ward DC, Quaggin SE, Igarashi P, Muckler ZE, Aronson PS", "evidence": [ { "database": "UniProtKB", "id": "O75309", "url": "https://www.uniprot.org/uniprot/O75309" } ], "reference": [ { "type": "PubMed", "id": "9721215", "url": "https://glygen.org/publication/PubMed/9721215" } ] } ], "pathway": [ { "id": "hsa:1014", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:1014", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "A0A287AQ03-1", "protein_name": "Cadherin 16", "gene_name": "CDH16", "tax_id": 9823, "organism": "Sus scrofa", "sequence": { "sequence": "MVPAWLWLLCLFVPQAFPGAQPAELYVEVPENYGGNFPLYLTKLALPREEAGGQIVLSGNSGMAAAGPFAVDQESGFLMVTMALDREEQAEYQLQVTLETEDGRVLWGPQPVLVHVKDENDQVPHFSQAIYTAQLSRGTRPGTPFFFLEASDGDEPGTANSDLRFHILNQAPAQPSPDMFQLEPQLGALALSPKGSISLDQALEGPYQLLVQVKDMGDQVSGHQATATIDVSIVENTWVPLDPIHLAENCQVPYPHHIAQVHWSGGNVRYHLESQPPGPFEVDTEGKLYVTRELDREAQAEYLLQVWAQNTRGEDYADPLELHVVVIDENDNAPVCPPRGPPVNIPELSPPGTMVARLSVEDVDAPGSPNSHVVYRLLSPEPEEGAERSAFKLDSTSGSVTLGAAPLQAGQNILLQVLAIDLGGTEGGLSSTCEIAVTITDINDHAPEFTASQIAPISIPEDTEPGTLVTTLMATDADLEPTFRLMDFAIEEGNIEGTFGLDWEPDSGHVQLRLLKNLSYEAAPSHKLVVVVRSLAELVGPGPGPGATATVTVLVERVLPPLKLDQENYEVSVPVSAPAGSLLLTIQPAADPMSSPLRFSLVNDSEGWLDIKEASGEVHTARPLQGAQPGDMYTVLVAAQVADEPTLSTSATLMIHFLKAPSAPTPTLAPLAPVPTRHLCTPRQDHGVVVSGLREDPDLAGGHGPYSFALGPNPTVQRDWRLRALNGSHAYLTLGLHWVEPREHVVPVVVSHDAQMWQILVRVIVCRCNVEGQCMRKVGRMKGMPTKLSAVGILVGTLIAIGIFLILIFTHLTLARKKDLDQPADSVPLKAAV", "length": 833 }, "evidence": [ { "id": "O75309", "url": "https://omabrowser.org/oma/group/O75309/", "database": "OMA" } ], "common_name": "Pig" }, { "uniprot_canonical_ac": "G3V7L4-1", "protein_name": "Cadherin 16", "gene_name": "Cdh16", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MISAWLWLLCFSVIQTFTAEAQPTESLHTEVPENYGGNFPFYILKLPLPLGKDEGQIVLSGDSGTAAENTFAVDPDSGFLVATRALDREEKAEYQLQVTLESEDGQVLWGPQLVTVHVKDENDQVPQFSQAIYRAQLSQGTRPGVPFLFLEASDGDAPGTTNSDLRFHILSQFPVQPLPDMFQLDPQLGALALSPDGSTTLDHALEEHYQLLVQVKDMGDQPSGHQAMATLEISIVENSWTPLEPVHLAENLRVAYPHSIAQVHWGGGDVHYQLESQPPGPFEVDAEGRIHVTMELDREAQAEYQLQVRAQNSRGEDYAEPLELQVVVMDENDNAPVCSPHDPTISIPELSPPGTEVARLSAEDLDAPGSPNSHIVYQLLSPEPEQGAENKAFEIDSTSGSVTLGTAPLHAGQNILLQVLAVDLAGSEGGLSSTCEVAVMITDINNHAPEFINSQIGPISLPEDVKPGSLVATLMATDADLEPAFRLMDFAIEEGDPTGIFDLSRESDSNHVQLRLRKNLSYEEAPDHKVVVVVRNVEELVGPGPGPAATATVTILVERVIPPLKLDQESYETSIPVSTPAGSLLLTIQPSDPMNRTLRFSLVNDSEGWLCIKEVSGEVYTAQSLQGAQPGDTYTVLVEAQDTDEPEMSTSTTIVVHFLKASPVPALILASGPSRHLCTPRQDYGVVVNGVSEDPGLANRNGPYSFALGPNPTVQRDWRLQPLNDSHAYLTLALHWVEPGEYTVPVVVHHDAQMWQLQVQVIVCRCNVEGQCMRKVGRMKGMPTKLSAVGVLLGTLAAIGFILILVFTHLALARKDLDQPADSVPLKTAV", "length": 830 }, "evidence": [ { "id": "O75309", "url": "https://omabrowser.org/oma/group/O75309/", "database": "OMA" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "O88338-1", "protein_name": "Cadherin-16", "gene_name": "Cdh16", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MISARPWLLYLSVIQAFTTEAQPAESLHTEVPENYGGNFPFYILKLPLPLGRDEGHIVLSGDSNTADQNTFAVDTDSGFLVATRTLDREEKAEYQLQVTLESEDGRILWGPQLVTVHVKDENDQVPQFSQAIYRAQLSQGTRPGVPFLFLEASDGDAPGTANSDLRFHILSQSPPQPLPDMFQLDPHLGALALSPSGSTSLDHALEETYQLLVQVKDMGDQPSGHQAIATVEISIVENSWAPLEPVHLAENLKVVYPHSIAQVHWSGGDVHYQLESQPPGPFDVDTEGMLHVTMELDREAQAEYQLQVRAQNSHGEDYAEPLELQVVVMDENDNAPVCSPHDPTVNIPELSPPGTEIARLSAEDLDAPGSPNSHIVYQLLSPEPEEGAENKAFELDPTSGSVTLGTAPLHAGQSILLQVLAVDLAGSESGLSSTCEVTVMVTDVNNHAPEFINSQIGPVTLPEDVKPGALVATLMATDADLEPAFRLMDFAIEEGDPEGIFDLSWEPDSDHVQLRLRKNLSYEAAPDHKVVVVVSNIEELVGPGPGPAATATVTILVERVVAPLKLDQESYETSIPVSTPAGSLLLTIQPSDPMSRTLRFSLVNDSEGWLCIKEVSGEVHTAQSLQGAQPGDTYTVLVEAQDTDKPGLSTSATVVIHFLKASPVPALTLSAGPSRHLCTPRQDYGVVVSGVSEDPDLANRNGPYSFALGPNPTVQRDWRLQPLNDSHAYLTLALHWVEPGEYMVPVVVHHDTHMWQLQVKVIVCRCNVEGQCMRKVGRMKGMPTKLSAVGVLLGTLAAIGFILILVFTHLALARKDLDQPADSVPLKAAV", "length": 830 }, "evidence": [ { "id": "45930111", "url": "http://www.informatics.jax.org/homology/45930111", "database": "MGI" }, { "id": "O75309", "url": "https://omabrowser.org/oma/group/O75309/", "database": "OMA" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 3, "go_terms": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "O75309", "url": "https://www.uniprot.org/uniprot/O75309" } ], "pmid": "" }, { "name": "basolateral plasma membrane", "id": "GO:0016323", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016323", "evidence": [ { "database": "UniProtKB", "id": "O75309", "url": "https://www.uniprot.org/uniprot/O75309" } ], "pmid": "" }, { "name": "extracellular exosome", "id": "GO:0070062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070062", "evidence": [ { "database": "UniProtKB", "id": "O75309", "url": "https://www.uniprot.org/uniprot/O75309" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 1, "go_terms": [ { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "O75309", "url": "https://www.uniprot.org/uniprot/O75309" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 3, "go_terms": [ { "name": "homophilic cell adhesion via plasma membrane adhesion molecules", "id": "GO:0007156", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007156", "evidence": [ { "database": "UniProtKB", "id": "O75309", "url": "https://www.uniprot.org/uniprot/O75309" } ], "pmid": "" }, { "name": "cell adhesion", "id": "GO:0007155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007155", "evidence": [ { "database": "UniProtKB", "id": "O75309", "url": "https://www.uniprot.org/uniprot/O75309" } ], "pmid": "" }, { "name": "calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules", "id": "GO:0016339", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016339", "evidence": [ { "database": "UniProtKB", "id": "O75309", "url": "https://www.uniprot.org/uniprot/O75309" } ], "pmid": "" } ] } ] }, "pro_annotation": [ { "name": "cadherin-16 O-glycosylated 1 (human)", "definition": "A cadherin-16 (human) that has been O-glycosylated at the residue equivalent to Thr-65 of the amino acid sequence represented by UniProtKB:O75309-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:O75309-1, Thr-65, MOD:00005~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000050825", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000050825" } ] }, { "name": "cadherin-16 O-glycosylated 2 (human)", "definition": "A cadherin-16 (human) that has been O-glycosylated at the residue equivalent to Thr-666 of the amino acid sequence represented by UniProtKB:O75309-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:O75309-1, Thr-666, MOD:00005~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000050826", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000050826" } ] }, { "name": "cadherin-16 O-glycosylated 3 (human)", "definition": "A cadherin-16 (human) that has been O-glycosylated at the residue equivalent to Thr-705 of the amino acid sequence represented by UniProtKB:O75309-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:O75309-1, Thr-705, MOD:00005~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000050827", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000050827" } ] } ], "site_annotation": [ { "start_pos": 517, "end_pos": 519, "annotation": "n_glycosylation_sequon" }, { "start_pos": 602, "end_pos": 604, "annotation": "n_glycosylation_sequon" }, { "start_pos": 722, "end_pos": 724, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.oma", "label": "OMA Homologs" }, { "name": "homologset.mgi", "label": "MGI Homologs" } ], "sequence_features": { "n_linked_sites": [ 517, 602, 722 ], "o_linked_sites": [ 65, 666, 705 ], "snv_sites": [ 38, 92, 194, 262, 334, 436, 450, 517, 519, 594, 602, 631, 647, 705, 710, 724 ], "glycation_sites": [], "phosphorylation_sites": [ 822 ], "sequon_annotation_sites": [ { "start_pos": 517, "end_pos": 519 }, { "start_pos": 602, "end_pos": 604 }, { "start_pos": 722, "end_pos": 724 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 6 }, { "field": "total_sites", "count": 6 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 3 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 3 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 3 }, { "field": "total_sites", "count": 3 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 3 } ], "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": 3 }, { "field": "total_sites", "count": 3 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 3 }, { "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": 1 }, { "field": "total_sites", "count": 1 } ], "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": 18 }, { "field": "total_sites", "count": 16 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 4 }, { "field": "total_sites", "count": 4 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 14 }, { "field": "total_sites", "count": 12 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 7 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }