{ "uniprot_canonical_ac": "A5D8V7-1", "ptm_annotation": [], "sequence": { "header": "sp|A5D8V7-1|CC151_HUMAN Isoform 1 of Coiled-coil domain-containing protein 151 OS=Homo sapiens OX=9606 GN=CCDC151 PE=1 SV=1 CANONICAL=A5D8V7-1", "length": 595, "sequence": "MTSPLCRAASANALPPQDQASTPSSRVKGREASGKPSHLRGKGTAQAWTPGRSKGGSFHRGAGKPSVHSQVAELHKKIQLLEGDRKAFFESSQWNIKKNQETISQLRKETKALELKLLDLLKGDEKVVQAVIREWKWEKPYLKNRTGQALEHLDHRLREKVKQQNALRHQVVLRQRRLEELQLQHSLRLLEMAEAQNRHTEVAKTMRNLENRLEKAQMKAQEAEHITSVYLQLKAYLMDESLNLENRLDSMEAEVVRTKHELEALHVVNQEALNARDIAKNQLQYLEETLVRERKKRERYISECKKRAEEKKLENERMERKTHREHLLLQSDDTIQDSLHAKEEELRQRWSMYQMEVIFGKVKDATGTDETHSLVRRFLAQGDTFAQLETLKSENEQTLVRLKQEKQQLQRELEDLKYSGEATLVSQQKLQAEAQERLKKEERRHAEAKDQLERALRAMQVAKDSLEHLASKLIHITVEDGRFAGKELDPQADNYVPNLLGLVEEKLLKLQAQLQGHDVQEMLCHIANREFLASLEGRLPEYNTRIALPLATSKDKFFDEESEEEDNEVVTRASLKIRSQKLIESHKKHRRSRRS" }, "uniprot_id": "CC151_HUMAN", "enzyme_annotation": [], "glycation": [], "keywords": [], "species": [ { "common_name": "Human", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A5D8V7", "id": "A5D8V7", "database": "UniProtKB" } ], "name": "Homo sapiens", "taxid": 9606 } ], "publication": [ { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/23455924", "type": [ "PubMed" ], "id": "23455924" } ], "title": "A Y2H-seq approach defines the human protein methyltransferase interactome.", "journal": "Nature methods", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001289382.1", "id": "NP_001289382.1", "database": "RefSeq" } ], "authors": "Weimann M, Grossmann A, Woodsmith J, Ozkan Z, Birth P, Meierhofer D, Benlasfer N, Valovka T, Timmermann B, Wanker EE, Sauer S, Stelzl U", "date": "2013" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/24067530", "type": [ "PubMed" ], "id": "24067530" } ], "title": "The coiled-coil domain containing protein CCDC151 is required for the function of IFT-dependent motile cilia in animals.", "journal": "Human molecular genetics", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001289382.1", "id": "NP_001289382.1", "database": "RefSeq" } ], "authors": "Jerber J, Baas D, Soulavie F, Chhin B, Cortier E, Vesque C, Thomas J, Durand B", "date": "2014" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/24088566", "type": [ "PubMed" ], "id": "24088566" } ], "title": "Chlamydomonas ODA10 is a conserved axonemal protein that plays a unique role in outer dynein arm assembly.", "journal": "Molecular biology of the cell", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001289382.1", "id": "NP_001289382.1", "database": "RefSeq" } ], "authors": "Dean AB, Mitchell DR", "date": "2013" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/25192045", "type": [ "PubMed" ], "id": "25192045" } ], "title": "CCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formation.", "journal": "Am. J. Hum. Genet.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A5D8V7", "id": "A5D8V7", "database": "UniProtKB" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001289382.1", "id": "NP_001289382.1", "database": "RefSeq" } ], "authors": "Li Y., Sheridan E., Carr I.M., Loges N.T., Omran H., Letteboer S.J., Lo C.W., Mans D.A., Roepman R., Dougherty G.W., Hjeij R., Pennekamp P., Werner C., Watson C.M., Burdine R.D., Chung E.M., Marthin J.K., Mitchison H.M., Nielsen K.G., O'Callaghan C., Onoufriadis A., Rutman A., Bartscherer K., Burgoyne T., Diggle C.P., Gabriel G.C., Klena N.T., Konert F., Kurkowiak M., Lemke K.L., Menchen T., Morante N.F., Moya E., Slagle C.E., Westermann C.", "date": "2014" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/25224326", "type": [ "PubMed" ], "id": "25224326" } ], "title": "Nonsense mutation in coiled-coil domain containing 151 gene (CCDC151) causes primary ciliary dyskinesia.", "journal": "Hum. Mutat.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A5D8V7", "id": "A5D8V7", "database": "UniProtKB" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001289382.1", "id": "NP_001289382.1", "database": "RefSeq" } ], "authors": "Rodriguez S., Al-Rikabi A.C., Alharbi K.K., Alsaadi M.M., Day I.N., Erzurumluoglu A.M., Gaunt T.R., Guthrie P.A., Mubarak M., Omar H.Z.", "date": "2014" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/30504913", "type": [ "PubMed" ], "id": "30504913" } ], "title": "Whole-exome sequencing identifies a novel CCDC151 mutation, c.325G>T (p.E109X), in a patient with primary ciliary dyskinesia and situs inversus.", "journal": "Journal of human genetics", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001289382.1", "id": "NP_001289382.1", "database": "RefSeq" } ], "authors": "Zhang W, Li D, Wei S, Guo T, Wang J, Luo H, Yang Y, Tan Z", "date": "2019" } ], "uniprot_ac": "A5D8V7", "site_annotation": [ { "end_pos": 146, "annotation": "n_glycosylation_sequon", "start_pos": 144 } ], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A5D8V7#A5D8V7-1", "isoform_ac": "A5D8V7-1", "locus": { "end_pos": 11420838, "strand": "+", "start_pos": 11435016, "chromosome": "19", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000356392", "id": "ENST00000356392", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000348757", "id": "ENSP00000348757", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A5D8V7-1|CC151_HUMAN Isoform 1 of Coiled-coil domain-containing protein 151 OS=Homo sapiens OX=9606 GN=CCDC151 PE=1 SV=1 CANONICAL=A5D8V7-1", "length": 595, "sequence": "MTSPLCRAASANALPPQDQASTPSSRVKGREASGKPSHLRGKGTAQAWTPGRSKGGSFHRGAGKPSVHSQVAELHKKIQLLEGDRKAFFESSQWNIKKNQETISQLRKETKALELKLLDLLKGDEKVVQAVIREWKWEKPYLKNRTGQALEHLDHRLREKVKQQNALRHQVVLRQRRLEELQLQHSLRLLEMAEAQNRHTEVAKTMRNLENRLEKAQMKAQEAEHITSVYLQLKAYLMDESLNLENRLDSMEAEVVRTKHELEALHVVNQEALNARDIAKNQLQYLEETLVRERKKRERYISECKKRAEEKKLENERMERKTHREHLLLQSDDTIQDSLHAKEEELRQRWSMYQMEVIFGKVKDATGTDETHSLVRRFLAQGDTFAQLETLKSENEQTLVRLKQEKQQLQRELEDLKYSGEATLVSQQKLQAEAQERLKKEERRHAEAKDQLERALRAMQVAKDSLEHLASKLIHITVEDGRFAGKELDPQADNYVPNLLGLVEEKLLKLQAQLQGHDVQEMLCHIANREFLASLEGRLPEYNTRIALPLATSKDKFFDEESEEEDNEVVTRASLKIRSQKLIESHKKHRRSRRS" } }, { "url": "https://www.uniprot.org/uniprot/A5D8V7#A5D8V7-2", "isoform_ac": "A5D8V7-2", "locus": {}, "sequence": { "header": "sp|A5D8V7-2|CC151_HUMAN Isoform 2 of Coiled-coil domain-containing protein 151 OS=Homo sapiens OX=9606 GN=CCDC151 PE=1 SV=1 CANONICAL=A5D8V7-1", "length": 541, "sequence": "MHPPVAPCKKLRCPPTRSFTPTRGRSKEGDRKAFFESSQWNIKKNQETISQLRKETKALELKLLDLLKGDEKVVQAVIREWKWEKPYLKNRTGQALEHLDHRLREKVKQQNALRHQVVLRQRRLEELQLQHSLRLLEMAEAQNRHTEVAKTMRNLENRLEKAQMKAQEAEHITSVYLQLKAYLMDESLNLENRLDSMEAEVVRTKHELEALHVVNQEALNARDIAKNQLQYLEETLVRERKKRERYISECKKRAEEKKLENERMERKTHREHLLLQSDDTIQDSLHAKEEELRQRWSMYQMEVIFGKVKDATGTDETHSLVRRFLAQGDTFAQLETLKSENEQTLVRLKQEKQQLQRELEDLKYSGEATLVSQQKLQAEAQERLKKEERRHAEAKDQLERALRAMQVAKDSLEHLASKLIHITVEDGRFAGKELDPQADNYVPNLLGLVEEKLLKLQAQLQGHDVQEMLCHIANREFLASLEGRLPEYNTRIALPLATSKDKFFDEESEEEDNEVVTRASLKIRSQKLIESHKKHRRSRRS" } }, { "url": "https://www.uniprot.org/uniprot/A5D8V7#K7EN59-1", "isoform_ac": "K7EN59-1", "locus": { "end_pos": 11420838, "strand": "+", "start_pos": 11435016, "chromosome": "19", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000591179", "id": "ENST00000591179", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000466800", "id": "ENSP00000466800", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|K7EN59-1|CC151_HUMAN Computationally mapped isoform of Coiled-coil domain-containing protein 151 OS=Homo sapiens OX=9606 GN=CCDC151 PE=1 SV=1 CANONICAL=A5D8V7-1", "length": 535, "sequence": "MTSPLCRAASANALPPQDQASTPSSRVKGREASGKPSHLRGKGTAQAWTPGRSKGGSFHRGAGKPSVHSQVAELHKKIQLLEGDRKAFFESSQWNIKKNQETISQLRKETKALELKLLDLLKALEHLDHRLREKVKQQNALRHQVVLRQRRLEELQLQHSLRLLEMAEAQNRHTEVAKDESLNLENRLDSMEAEVVRTKHELEALHVVNQEALNARDIAKNQLQYLEETLVRERKKRERYISECKKRAEEKKLENERMERKTHREHLLLQSDDTIQDSLHAKEEELRQRWSMYQMEVIFGKVKDATGTDETHSLVRRFLAQGDTFAQLETLKSENEQTLVRLKQEKQQLQRELEDLKYSGEATLVSQQKLQAEAQERLKKEERRHAEAKDQLERALRAMQVAKDSLEHLASKLIHITVEDGRFAGKELDPQADNYVPNLLGLVEEKLLKLQAQLQGHDVQEMLCHIANREFLASLEGRLPEYNTRIALPLATSKDKFFDEESEEEDNEVVTRASLKIRSQKLIESHKKHRRSRRS" } }, { "url": "https://www.uniprot.org/uniprot/A5D8V7#K7EPB4-1", "isoform_ac": "K7EPB4-1", "locus": { "end_pos": 11431187, "strand": "+", "start_pos": 11435016, "chromosome": "19", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000591345", "id": "ENST00000591345", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000467313", "id": "ENSP00000467313", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|K7EPB4-1|CC151_HUMAN Computationally mapped isoform of Coiled-coil domain-containing protein 151 OS=Homo sapiens OX=9606 GN=CCDC151 PE=1 SV=1 CANONICAL=A5D8V7-1", "length": 115, "sequence": "MTSPLCRAASANALPPQDQASTPSSRVKGREASGKPSHLRGKGTAQAWTPGRSKGGSFHRGAGKPSVHSQVAELHKKIQLLESHSVARWECSGTISAHCNLRLPESLEPGRRRLW" } }, { "url": "https://www.uniprot.org/uniprot/A5D8V7#K7EPK8-1", "isoform_ac": "K7EPK8-1", "locus": { "end_pos": 11420838, "strand": "+", "start_pos": 11426911, "chromosome": "19", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000586836", "id": "ENST00000586836", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000467429", "id": "ENSP00000467429", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|K7EPK8-1|CC151_HUMAN Computationally mapped isoform of Coiled-coil domain-containing protein 151 OS=Homo sapiens OX=9606 GN=CCDC151 PE=1 SV=1 CANONICAL=A5D8V7-1", "length": 404, "sequence": "MAEAQNRHTEVAKTMRNLENRLEKAQMKAQEAEHITSVYLQLKAYLMDESLNLENRLDSMEAEVVRTKHELEALHVVNQEALNARDIAKNQLQYLEETLVRERKKRERYISECKKRAEEKKLENERMERKTHREHLLLQSDDTIQDSLHAKEEELRQRWSMYQMEVIFGKVKDATGTDETHSLVRRFLAQGDTFAQLETLKSENEQTLVRLKQEKQQLQRELEDLKYSGEATLVSQQKLQAEAQERLKKEERRHAEAKDQLERALRAMQVAKDSLEHLASKLIHITVEDGRFAGKELDPQADNYVPNLLGLVEEKLLKLQAQLQGHDVQEMLCHIANREFLASLEGRLPEYNTRIALPLATSKDKFFDEESEEEDNEVVTRASLKIRSQKLIESHKKHRRSRRS" } } ], "pathway": [ { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:115948", "resource": "KEGG Pathway", "id": "hsa:115948", "name": "" } ], "function": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001289382.1", "annotation": "CCDC151 mutation is associated with primary ciliary dyskinesia and situs inversus. Erratum:[J Hum Genet. 2019 Jun 10;:. PMID: 31178588]", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001289382.1", "id": "NP_001289382.1", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001289382.1", "annotation": "CCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formation.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001289382.1", "id": "NP_001289382.1", "database": "RefSeq" } ] }, { "url": "https://www.uniprot.org/uniprot/A5D8V7#function", "annotation": "Ciliary protein involved in outer dynein arm assembly and required for motile cilia function.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A5D8V7#function", "id": "A5D8V7", "database": "UniProtKB" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001289382.1", "annotation": "Observed a novel nonsense mutation in a homozygous state in the CCDC151 gene (NM_145045.4:c.925G>T:p.[E309*]) in a clinically diagnosed PCD patient from a consanguineous family of Arabic ancestry", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001289382.1", "id": "NP_001289382.1", "database": "RefSeq" } ] } ], "orthologs": [ { "uniprot_canonical_ac": "D4ABL9-1", "protein_name": "Coiled-coil domain-containing 151", "sequence": { "length": 595, "sequence": "MTSPLCWAAATSTVTSQEPVPAPSSKTKGSKVHRPRGKAMGRAQAWPAHHSKTAASFQLMKSSVQAQVLELQRKIQLLEGDRKAFYESSQWNMKKNQDTINHLQEETKSLHMQLKDLLQGDSKVVQAIIQEWRSEKPYLKNRTCEQALEHLEHQLREKMNQLNALRHQVILRQKRLEELRLQHSLRQLEMAEIQDSNTEAAKTMRNLENRLEKARMKAEEAEHITNVYLQLKSYLQEESLNLENRLDSMEAEVMNTKHEVQELKVVNQEAINARDIAKNQLQYLEETAIRDRKKRDHYITDCKKRAEEKKLQTERMERKTHRDHVLLQSEDTIQDHQRHKEQELRQRWSMYQMEVMFGKVKDATGVAESHAVVRRFLAQDETFTQLETLKRDNELALAKLKEEKQRLQRELENLKYSGDATLVSQRKLHEEMKKAFKKEEQRHSEVLERLDRTSRVLELVKDCLEHLANKLSHVQMDDTILAGKKLDRESEDYPSNLLVVVQEKLLKLQEHLDNQDVPEMLRHIADREFLATLEGKLPLYNTRILLPVASVKDKFFDEEESEDDDRDVVTRAAFKIRSQKLIEARSKKRNKSRRS" }, "evidence": [ { "url": "http://www.informatics.jax.org/homology/16533", "id": "16533", "database": "MGI" }, { "url": "https://omabrowser.org/oma/group/A5D8V7/", "id": "A5D8V7", "database": "OMA" } ], "common_name": "Rat", "organism": "Rattus norvegicus", "tax_id": 10116 }, { "uniprot_canonical_ac": "Q8BSN3-1", "protein_name": "Coiled-coil domain-containing protein 151", "sequence": { "length": 593, "sequence": "MTSPLCWAAATTTVTSPEQAPAPSSKAKGSKVHRSKSMGRAQAWPARHPKSATSFHAMKSSVHAQVLELQRKIQLLEGDRKAFYESSQWNMKKNQDTINQLQEETKALHVQLKDLLQGDSKVIQAIIQEWKSEKPFLKNRTCEQALEHLEHQLREKMNQLNALRHQVILRQKRLEDLRLQHSLRQLEMAEVQDSNMEAAKTMRNLENRLEKARMKAEEAEHITNVYLQLKSYLQEESLNLESRLDSMEAEVMNTKHEVQELKVVNQEAINARDIAKNQLQYLEESAIRDRKKREHYITDCKKRAEEKKLQTERMERKTHRDHVLLQSEDTIQDHQRHREEELRQRWSMYQMEVMFGKVKDATGVAESHAVVRRFLAQDETFTQLENLKKDNELALAKLKEEKQRLQRELENLKYSGDATLVSQRRLHEEMQKTFKKEEQRHNDVHERLEHTSRILQLVKDCLEHLANKLSHVKLDDTVLAGKKLDRDSEDYAYNLLVVVQEKLLKLQDQLESQDVPELLRHIADREFLATLEGKLPLYNTRILLPVASVKDKFFDEEESEDDDRDVVTRAAFKLRSQKLIEARSKKRNRLRRS" }, "evidence": [ { "url": "http://www.informatics.jax.org/homology/16533", "id": "16533", "database": "MGI" } ], "common_name": "Mouse", "organism": "Mus musculus", "tax_id": 10090 } ], "interactions": [], "synthesized_glycans": [], "snv": [ { "sequence_org": "H", "start_pos": 155, "alt_nt": "T", "chr_id": "19", "ref_nt": "G", "chr_pos": "11537842", "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/A5D8V7", "id": "A5D8V7", "database": "BioMuta" } ], "frequency": "2.0", "sequence_mut": "N", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%).", "end_pos": 155, "minor_allelic_frequency": "", "subjects_positive": "1" }, { "sequence_org": "R", "start_pos": 376, "alt_nt": "A", "chr_id": "19", "ref_nt": "G", "chr_pos": "11533520", "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/A5D8V7", "id": "A5D8V7", "database": "BioMuta" } ], "frequency": "2.0", "sequence_mut": "W", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%).", "end_pos": 376, "minor_allelic_frequency": "", "subjects_positive": "1" }, { "sequence_org": "K", "start_pos": 449, "alt_nt": "G", "chr_id": "19", "ref_nt": "T", "chr_pos": "11533227", "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/A5D8V7", "id": "A5D8V7", "database": "BioMuta" } ], "frequency": "2.0", "sequence_mut": "T", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. 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(1.0%).", "end_pos": 93, "minor_allelic_frequency": "", "subjects_positive": "1" } ], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "refseq": { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001289382.1", "ac": "NP_001289382.1", "name": "coiled-coil domain-containing protein 151 isoform 2", "summary": "This gene encodes a protein containing coiled-coil domains. The encoded protein functions in outer dynein arm assembly and is required for motile cilia function. Mutations in this gene result in primary ciliary dyskinesia. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2014]." }, "go_annotation": { "categories": [ { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005930", "pmid": "25192045", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A5D8V7", "id": "A5D8V7", "database": "UniProtKB" } ], "name": "axoneme", "id": "GO:0005930" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005929", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A5D8V7", "id": "A5D8V7", "database": "UniProtKB" } ], "name": "cilium", "id": "GO:0005929" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005814", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A5D8V7", "id": "A5D8V7", "database": "UniProtKB" } ], "name": "centriole", "id": "GO:0005814" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036064", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A5D8V7", "id": "A5D8V7", "database": "UniProtKB" } ], "name": "ciliary basal body", "id": "GO:0036064" } ], 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