{ "uniprot_canonical_ac": "A5D8T8-1", "ptm_annotation": [ { "annotation": "N-glycosylated.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A5D8T8", "id": "A5D8T8", "database": "UniProtKB" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/26170455", "id": "26170455", "database": "PubMed" } ] } ], "sequence": { "header": "sp|A5D8T8-1|CL18A_HUMAN Isoform 1 of C-type lectin domain family 18 member A OS=Homo sapiens OX=9606 GN=CLEC18A PE=1 SV=3 CANONICAL=A5D8T8-1", "length": 446, "sequence": "MLHPETSPGRGHLLAVLLALLGTAWAEVWPPQLQEQAPMAGALNRKESFLLLSLHNRLRSWVQPPAADMRRLDWSDSLAQLAQARAALCGTPTPSLASGLWRTLQVGWNMQLLPAGLVSFVEVVSLWFAEGQRYSHAAGECARNATCTHYTQLVWATSSQLGCGRHLCSAGQAAIEAFVCAYSPRGNWEVNGKTIVPYKKGAWCSLCTASVSGCFKAWDHAGGLCEVPRNPCRMSCQNHGRLNISTCHCHCPPGYTGRYCQVRCSLQCVHGRFREEECSCVCDIGYGGAQCATKVHFPFHTCDLRIDGDCFMVSSEADTYYRARMKCQRKGGVLAQIKSQKVQDILAFYLGRLETTNEVIDSDFETRNFWIGLTYKTAKDSFRWATGEHQAFTSFAFGQPDNHGFGNCVELQASAAFNWNDQRCKTRNRYICQFAQEHISRWGPGS" }, "uniprot_id": "CL18A_HUMAN", "enzyme_annotation": [], "glycation": [], "keywords": [ "glycoprotein", "reported_with_glycan.unicarbkb", "predicted.uniprotkb_gly" ], "species": [ { "common_name": "Human", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A5D8T8", "id": "A5D8T8", "database": "UniProtKB" } ], "name": "Homo sapiens", "taxid": 9606 } ], "publication": [ { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/16336259", "type": [ "PubMed" ], "id": "16336259" } ], "title": "The C-type lectin-like domain superfamily.", "journal": "The FEBS journal", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129686.1", "id": "NP_001129686.1", "database": "RefSeq" } ], "authors": "Zelensky AN, Gready JE", "date": "2005" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/26170455", "type": [ "PubMed" ], "id": "26170455" } ], "title": "Human CLEC18 gene cluster contains C-type lectins with differential glycan-binding specificity.", "journal": "J. Biol. Chem.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A5D8T8", "id": "A5D8T8", "database": "UniProtKB" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129686.1", "id": "NP_001129686.1", "database": "RefSeq" } ], "authors": "Chen C.H., Huang Y.L., Chou T.Y., Hsieh S.L., Hsu T.L., Mon H.C., Pai F.S., Tsou Y.T., Wong C.H., Wu C.Y., Yang W.B.", "date": "2015" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/30055605", "type": [ "PubMed" ], "id": "30055605" } ], "title": "The human C-type lectin 18 is a potential biomarker in patients with chronic hepatitis B virus infection.", "journal": "Journal of biomedical science", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129686.1", "id": "NP_001129686.1", "database": "RefSeq" } ], "authors": "Tsai TY, Peng CY, Yang HI, Huang YL, Tao MH, Yuan SS, Lai HC, Hsieh SL", "date": "2018" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/30459171", "type": [ "PubMed" ], "id": "30459171" } ], "title": "Mapping the O-glycoproteome using site-specific extraction of O-linked glycopeptides (EXoO).", "journal": "Molecular systems biology", "evidence": [ { "url": "http://unicarbkb.org/proteinsummary/A5D8T8/annotated", "id": "A5D8T8", "database": "UniCarbKB" } ], "authors": "Yang W, Ao M, Hu Y, Li QK, Zhang H", "date": "2018" } ], "uniprot_ac": "A5D8T8", "site_annotation": [ { "end_pos": 146, "annotation": "n_glycosylation_sequon", "start_pos": 144 }, { "end_pos": 245, "annotation": "n_glycosylation_sequon", "start_pos": 243 } ], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A5D8T8#A5D8T8-1", "isoform_ac": "A5D8T8-1", "locus": { "end_pos": 69951367, "strand": "-", "start_pos": 69963608, "chromosome": "16", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000568461", "id": "ENST00000568461", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000454685", "id": "ENSP00000454685", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A5D8T8-1|CL18A_HUMAN Isoform 1 of C-type lectin domain family 18 member A OS=Homo sapiens OX=9606 GN=CLEC18A PE=1 SV=3 CANONICAL=A5D8T8-1", "length": 446, "sequence": "MLHPETSPGRGHLLAVLLALLGTAWAEVWPPQLQEQAPMAGALNRKESFLLLSLHNRLRSWVQPPAADMRRLDWSDSLAQLAQARAALCGTPTPSLASGLWRTLQVGWNMQLLPAGLVSFVEVVSLWFAEGQRYSHAAGECARNATCTHYTQLVWATSSQLGCGRHLCSAGQAAIEAFVCAYSPRGNWEVNGKTIVPYKKGAWCSLCTASVSGCFKAWDHAGGLCEVPRNPCRMSCQNHGRLNISTCHCHCPPGYTGRYCQVRCSLQCVHGRFREEECSCVCDIGYGGAQCATKVHFPFHTCDLRIDGDCFMVSSEADTYYRARMKCQRKGGVLAQIKSQKVQDILAFYLGRLETTNEVIDSDFETRNFWIGLTYKTAKDSFRWATGEHQAFTSFAFGQPDNHGFGNCVELQASAAFNWNDQRCKTRNRYICQFAQEHISRWGPGS" } }, { "url": "https://www.uniprot.org/uniprot/A5D8T8#A5D8T8-2", "isoform_ac": "A5D8T8-2", "locus": {}, "sequence": { "header": "sp|A5D8T8-2|CL18A_HUMAN Isoform 2 of C-type lectin domain family 18 member A OS=Homo sapiens OX=9606 GN=CLEC18A PE=1 SV=3 CANONICAL=A5D8T8-1", "length": 106, "sequence": "MGAASAGKRGQKGSWQQTPGSEWANLDYPGPGLTYKTAKDSFRWATGEHQAFTSFAFGQPDNHGFGNCVELQASAAFNWNDQRCKTRNRYICQFAQEHISRWGPGS" } }, { "url": "https://www.uniprot.org/uniprot/A5D8T8#F8W692-1", "isoform_ac": "F8W692-1", "locus": { "end_pos": 69951367, "strand": "-", "start_pos": 69963608, "chromosome": "16", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000449317", "id": "ENST00000449317", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000413990", "id": "ENSP00000413990", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|F8W692-1|CL18A_HUMAN Computationally mapped isoform of C-type lectin domain family 18 member A OS=Homo sapiens OX=9606 GN=CLEC18A PE=1 SV=1 CANONICAL=A5D8T8-1", "length": 455, "sequence": "MLHPETSPGRGHLLAVLLALLGTAWAEVWPPQLQEQAPMAGALNRKESFLLLSLHNRLRSWVQPPAADMRRLDWSDSLAQLAQARAALCGTPTPSLASGLWRTLQVGWNMQLLPAGLVSFVEVVSLWFAEGQRYSHAAGECARNATCTHYTQLVWATSSQLGCGRHLCSAGQAAIEAFVCAYSPRGNWEVNGKTIVPYKKGAWCSLCTASVSGCFKAWDHAGGLCEVPRNPCRMSCQNHGRLNISTCHCHCPPGYTGRYCQVRCSLQCVHGRFREEECSCVCDIGYGGAQCATKVHFPFHTCDLRIDGDCFMVSSEADTYYRARMKCQRKGGVLAQIKSQKVQDILAFYLGRLETTNEVIDSDFETRNFWIGLTYKTAKDSFRWATGEHQAFTSFAFGQPDNHGLVWLSAAMGFGNCVELQASAAFNWNDQRCKTRNRYICQFAQEHISRWGPGS" } }, { "url": "https://www.uniprot.org/uniprot/A5D8T8#H3BNR9-1", "isoform_ac": "H3BNR9-1", "locus": { "end_pos": 69952115, "strand": "-", "start_pos": 69959547, "chromosome": "16", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000561889", "id": "ENST00000561889", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000454976", "id": "ENSP00000454976", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|H3BNR9-1|CL18A_HUMAN Computationally mapped isoform of C-type lectin domain family 18 member A OS=Homo sapiens OX=9606 GN=CLEC18A PE=1 SV=1 CANONICAL=A5D8T8-1", "length": 66, "sequence": "MRRLLVWATSSQLGCGRHLCSAGQAAIEAFVCAYSPRGNWEVNGKTIVPYKKGAWCSLCTASVSGC" } } ], "pathway": [ { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:348174", "resource": "KEGG Pathway", "id": "hsa:348174", "name": "" } ], "function": [ { "url": "https://www.uniprot.org/uniprot/A5D8T8#function", "annotation": "Binds polysaccharides in a Ca(2+)-independent manner with a preferentially binding to fucoidan, beta-glucans and galactans (PubMed:26170455).", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A5D8T8#function", "id": "A5D8T8", "database": "UniProtKB" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129686.1", "annotation": "High CLEC18 serum levels were associated with chronic HCV infection in rheumatic diseases. Publication Status: Online-Only", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129686.1", "id": "NP_001129686.1", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129686.1", "annotation": "Plasma CLEC18 levels were correlated with the stage of HBV infection and could predict HBeAg loss and seroconversion in the patients with chronic hepatitis B (CHB) undergoing NUC therapy Publication Status: Online-Only", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129686.1", "id": "NP_001129686.1", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129686.1", "annotation": "The human C-type lectin 18 (clec18) gene cluster, which contains three clec18a, clec18b, and clec18c loci, is located in human chromosome 16q22.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129686.1", "id": "NP_001129686.1", "database": "RefSeq" } ] } ], "orthologs": [ { "uniprot_canonical_ac": "Q8NCF0-1", "protein_name": "C-type lectin domain family 18 member C", "sequence": { "length": 446, "sequence": "MLHPETSPGRGHLLAVLLALLGTAWAEVWPPQLQEQAPMAGALNRKESFLLLSLHNRLRSWVQPPAADMRRLDWSDSLAQLAQARAALCGIPTPSLASGLWRTLQVGWNMQLLPAGLASFVEVVSLWFAEGQRYSHAAGECARNATCTHYTQLVWATSSQLGCGRHLCSAGQAAIEAFVCAYSPRGNWEVNGKTIVPYKKGAWCSLCTASVSGCFKAWDHAGGLCEVPRNPCRMSCQNHGRLNISTCHCHCPPGYTGRYCQVRCSLQCVHGRFREEECSCVCDIGYGGAQCATKVHFPFHTCDLRIDGDCFMVSSEADTYYRARMKCQRKGGVLAQIKSQKVQDILAFYLGRLETTNEVIDSDFETRNFWIGLTYKTAKDSFRWATGEHQAFTSFAFGQPDNHGFGNCVELQASAAFNWNNQRCKTRNRYICQFAQEHISRWGPGS" }, "evidence": [ { "url": "http://www.informatics.jax.org/homology/138419", "id": "138419", "database": "MGI" } ], "common_name": "Human", "organism": "Homo sapiens", "tax_id": 9606 } ], "interactions": [], "synthesized_glycans": [], "snv": [ { "sequence_org": "L", "start_pos": 100, "alt_nt": "C", "chr_id": "16", "ref_nt": "T", "chr_pos": "69988319", "disease": [ { "synonyms": [ { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid neoplasm", "description": "" } ], "recommended_name": { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid gland cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." } }, { "synonyms": [ { "id": "DOID:1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "primary breast cancer", "description": "" } ], "recommended_name": { "id": "DOID:1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A5D8T8", "id": "A5D8T8", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "4.0", "sequence_mut": "P", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. 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(2.0%).", "end_pos": 133, "minor_allelic_frequency": "", "subjects_positive": "1" }, { "sequence_org": "N", "alt_nt": "null", "chr_id": "16", "ref_nt": "T", "chr_pos": "69954548A>", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1220530833", "id": "rs1220530833", "database": "dbSNP" }, { "url": "https://www.ncbi.nlm.nih.gov/snp/rs1220530833#frequency_tab", "id": "rs1220530833", "database": "TOPMed" }, { "url": "http://gnomad.broadinstitute.org/awesome?query=rs1220530833", "id": "rs1220530833", "database": "gnomAD" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_mut": "I", "start_pos": 144, "keywords": [ "ebi", "germline" ], "end_pos": 144, "minor_allelic_frequency": "", "annotation": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NAT->IAT)." }, { "sequence_org": "T", "alt_nt": "null", "chr_id": "16", "ref_nt": "C", "chr_pos": "69954553A>", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753628736", "id": "rs753628736", "database": "dbSNP" }, { "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753628736", "id": "rs753628736", "database": "ExAC" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-sequon-loss" ], "sequence_mut": "P", "start_pos": 146, "keywords": [ "ebi", "germline" ], "end_pos": 146, "minor_allelic_frequency": "", "annotation": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NAT->NAP)." }, { "sequence_org": "T", "start_pos": 148, "alt_nt": "G", "chr_id": "16", "ref_nt": "C", "chr_pos": "69988463", "disease": [ { "synonyms": [ { "id": "DOID:2531", "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "name": "malignant hematopoietic neoplasm", "description": "" } ], "recommended_name": { "id": "DOID:2531", "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." } }, { "synonyms": [ { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid neoplasm", "description": "" } ], "recommended_name": { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid gland cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." } }, { "synonyms": [], "recommended_name": { "id": "DOID:1324", "url": "http://disease-ontology.org/term/DOID:1324", "resource": "Disease Ontology", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A5D8T8", "id": "A5D8T8", "database": "BioMuta" } ], 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(1.5%).", "end_pos": 24, "minor_allelic_frequency": "", "subjects_positive": "1" }, { "sequence_org": "M", "start_pos": 312, "alt_nt": "C", "chr_id": "16", "ref_nt": "T", "chr_pos": "69994805", "disease": [ { "synonyms": [], "recommended_name": { "id": "DOID:1324", "url": "http://disease-ontology.org/term/DOID:1324", "resource": "Disease Ontology", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A5D8T8", "id": "A5D8T8", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "1.5", "sequence_mut": "T", "subjects_tested": "66", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (1.5%).", "end_pos": 312, "minor_allelic_frequency": "", "subjects_positive": "1" }, { "sequence_org": "I", "start_pos": 360, "alt_nt": "C", "chr_id": "16", "ref_nt": "T", "chr_pos": "69995583", "disease": [ { "synonyms": [], "recommended_name": { "id": "DOID:1324", "url": "http://disease-ontology.org/term/DOID:1324", "resource": "Disease Ontology", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A5D8T8", "id": "A5D8T8", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "1.5", "sequence_mut": "T", "subjects_tested": "66", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (1.5%).", "end_pos": 360, "minor_allelic_frequency": "", "subjects_positive": "1" }, { "sequence_org": "N", "start_pos": 420, "alt_nt": "A", "chr_id": "16", "ref_nt": "C", "chr_pos": "69996927", "disease": [ { "synonyms": [ { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid neoplasm", "description": "" } ], "recommended_name": { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid gland cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A5D8T8", "id": "A5D8T8", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "2.0", "sequence_mut": "K", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%).", "end_pos": 420, "minor_allelic_frequency": "", "subjects_positive": "1" }, { "sequence_org": "R", "start_pos": 57, "alt_nt": "A", "chr_id": "16", "ref_nt": "G", "chr_pos": "69985983", "disease": [ { "synonyms": [], "recommended_name": { "id": "DOID:1324", "url": "http://disease-ontology.org/term/DOID:1324", "resource": "Disease Ontology", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A5D8T8", "id": "A5D8T8", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "3.0", "sequence_mut": "H", "subjects_tested": "66", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (3.0%).", "end_pos": 57, "minor_allelic_frequency": "", "subjects_positive": "2" }, { "sequence_org": "D", "start_pos": 73, "alt_nt": "A", "chr_id": "16", "ref_nt": "G", "chr_pos": "69988237", "disease": [ { "synonyms": [], "recommended_name": { "id": "DOID:1324", "url": "http://disease-ontology.org/term/DOID:1324", "resource": "Disease Ontology", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A5D8T8", "id": "A5D8T8", "database": "BioMuta" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "frequency": "0.1", "sequence_mut": "N", "subjects_tested": "689", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (DWS->NWS).", "end_pos": 73, "minor_allelic_frequency": "", "subjects_positive": "1" } ], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" } ], "refseq": { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129686.1", "ac": "NP_001129686.1", "name": "C-type lectin domain family 18 member A precursor", "summary": "This is one of three closely related paralogous genes on chromosome 16 encoding secreted proteins containing C-type lectin domains. These domains bind to carbohydrates in the presence of calcium, and may be involved in cell adhesion, immune response and apoptosis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2012]." }, "go_annotation": { "categories": [ { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030247", "pmid": "26170455", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A5D8T8", "id": "A5D8T8", "database": "UniProtKB" } ], "name": "polysaccharide binding", "id": "GO:0030247" } ], "total": 1, "name": "Molecular Function" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "pmid": "26170455", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A5D8T8", "id": "A5D8T8", "database": "UniProtKB" } ], "name": "extracellular space", "id": "GO:0005615" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005768", "pmid": "26170455", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A5D8T8", "id": "A5D8T8", "database": "UniProtKB" } ], "name": "endosome", "id": "GO:0005768" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "pmid": "26170455", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A5D8T8", "id": "A5D8T8", "database": "UniProtKB" } ], "name": "endoplasmic reticulum", "id": "GO:0005783" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "pmid": "26170455", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A5D8T8", "id": "A5D8T8", "database": "UniProtKB" } ], "name": "Golgi apparatus", "id": "GO:0005794" } ], "total": 4, "name": "Cellular Component" } ] }, "gene_names": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/A5D8T8", "type": "synonym", "resource": "RefSeq", "name": "CLEC18A" }, { "url": "https://www.uniprot.org/uniprot/A5D8T8", "type": "recommended", "resource": "UniProtKB", "name": "CLEC18A" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/A5D8T8", "type": "synonym", "resource": "RefSeq", "name": "MRCL; MRCL1; MRLP2" }, { "url": "https://www.uniprot.org/uniprot/A5D8T8", "type": "synonym", "resource": "UniProtKB", "name": "MRLP2" } ], "pro_annotation": [ { "definition": "A C-type lectin domain family 18 member A (human) that has been O-glycosylated at the residue equivalent to Thr-356 of the amino acid sequence represented by UniProtKB:A5D8T8-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:A5D8T8-1, Thr-356, MOD:00005~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "name": "C-type lectin domain family 18 member A O-glycosylated 1 (human)", "evidence": [ { "url": "http://research.bioinformatics.udel.edu/pro/entry/PR:000050619", "id": "PR:000050619", "database": "PRO" } ] } ], "crossref": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000157322", "id": "ENSG00000157322", "database": "Bgee" }, { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A5D8T8", "id": "A5D8T8", "database": "BioMuta" }, { "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLEC18A", "id": "CLEC18A", "database": "GeneCards" }, { "url": "https://www.ncbi.nlm.nih.gov/gene/348174", "id": "348174", "database": "GeneID" }, { "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=30388", "id": "30388", "database": "HGNC" }, { "url": "https://www.ebi.ac.uk/intact/interactors/id:A5D8T8*", "id": "A5D8T8", "database": "IntAct" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR000742", "id": "IPR000742", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR001283", "id": "IPR001283", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR001304", "id": "IPR001304", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR014044", "id": "IPR014044", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR016186", "id": "IPR016186", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR016187", "id": "IPR016187", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR018378", "id": "IPR018378", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR035940", "id": "IPR035940", "database": "InterPro" }, { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:348174", "id": "hsa:348174", "database": "KEGG Pathway" }, { "url": "http://www.omim.org/entry/616571", "id": "616571", "database": "MIM" }, { "url": "https://www.nextprot.org/entry/NX_A5D8T8", "id": "NX_A5D8T8", "database": "neXtProt" }, { "url": "http://www.orthodb.org/?query=1528782at2759", "id": "1528782at2759", "database": "OrthoDB" }, { "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10334", "id": "PTHR10334", "database": "PANTHER" }, { "url": "http://pfam.xfam.org/family/PF00059", "id": "PF00059", "database": "Pfam" }, { "url": "http://pfam.xfam.org/family/PF00188", "id": "PF00188", "database": "Pfam" }, { "url": "https://pharos.nih.gov/targets/A5D8T8", "id": "A5D8T8", "database": "PHAROS" }, { "url": "https://proconsortium.org/app/entry/PR:000050619", "id": "PR:000050619", "database": "PRO" }, { "url": "http://research.bioinformatics.udel.edu/pro/entry/PR_A5D8T8", "id": "PR_A5D8T8", "database": "PRO" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129686.1", "id": "NP_001129686.1", "database": "RefSeq" }, { "url": "https://www.uniprot.org/uniprot/A5D8T8", "id": "A5D8T8", "database": "UniProtKB" } 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