{ "uniprot_canonical_ac": "A5D8V7-1", "uniprot_ac": "A5D8V7", "uniprot_id": "ODAD3_HUMAN", "mass": { "chemical_mass": 69140.0, "monoisotopic_mass": 69140.0 }, "refseq": { "ac": "NP_001289382", "name": "outer dynein arm-docking complex subunit 3 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].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001289382" }, "gene_names": [ { "name": "ODAD3", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/A5D8V7", "id": "A5D8V7" }, { "name": "CCDC151; CILD30; ODA10", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001289382", "id": "NP_001289382" }, { "name": "CCDC151", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A5D8V7", "id": "A5D8V7" }, { "name": "ODAD3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001289382", "id": "NP_001289382" } ], "protein_names": [ { "name": "Outer dynein arm-docking complex subunit 3", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "A5D8V7" }, { "name": "Coiled-coil domain-containing protein 151", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "A5D8V7" }, { "name": "coiled-coil domain-containing protein 151; coiled-coil domain containing 151", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001289382", "id": "NP_001289382" }, { "name": "outer dynein arm-docking complex subunit 3 isoform 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001289382", "id": "NP_001289382" } ], "function": [ { "annotation": "CCDC151 mutation is associated with primary ciliary dyskinesia and situs inversus. Erratum:[J Hum Genet. 2019 Jun 10;:. PMID: 31178588]", "evidence": [ { "database": "RefSeq", "id": "NP_001289382", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001289382" }, { "database": "PubMed", "id": "30504913", "url": "https://glygen.org/publication/PubMed/30504913" } ] }, { "annotation": "CCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formation.", "evidence": [ { "database": "RefSeq", "id": "NP_001289382", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001289382" }, { "database": "PubMed", "id": "25192045", "url": "https://glygen.org/publication/PubMed/25192045" } ] }, { "annotation": "Component of the outer dynein arm-docking complex (ODA-DC) that mediates outer dynein arms (ODA) binding onto the doublet microtubule (PubMed:25192045). Involved in mediating assembly of both ODAs and their axonemal docking complex onto ciliary microtubules (PubMed:25192045).", "evidence": [ { "database": "UniProtKB", "id": "A5D8V7", "url": "https://www.uniprot.org/uniprot/A5D8V7#function" }, { "database": "PubMed", "id": "25192045", "url": "https://glygen.org/publication/PubMed/25192045" } ] }, { "annotation": "Identification of a frame shift mutation in the CCDC151 gene in a Han-Chinese family with Kartagener syndrome.", "evidence": [ { "database": "RefSeq", "id": "NP_001289382", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001289382" }, { "database": "PubMed", "id": "32490514", "url": "https://glygen.org/publication/PubMed/32490514" } ] }, { "annotation": "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].", "evidence": [ { "database": "RefSeq", "id": "NP_001289382", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001289382" } ] } ], "disease": [ { "disease_id": "DOID:0110624", "recommended_name": { "id": "DOID:0110624", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110624", "name": "primary ciliary dyskinesia 30", "description": "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, recurrent upper and lower airway disease, bronchiectasis, nasal blockages, polyps, otitis media, and variable occurence of laterality defects and has_material_basis_in homozygous mutation in the CCDC151 gene on chromosome 19p13." }, "synonyms": [ { "id": "DOID:0110624", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110624", "name": "CILD30", "description": "" }, { "id": "DOID:0110624", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110624", "name": "primary ciliary dyskinesia 30 without situs inversus", "description": "" }, { "id": "MONDO:0014465", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014465", "name": "primary ciliary dyskinesia 30", "description": "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC151 gene." }, { "id": "MONDO:0014465", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014465", "name": "CCDC151 primary ciliary dyskinesia", "description": "" }, { "id": "MONDO:0014465", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014465", "name": "CILD30", "description": "" }, { "id": "MONDO:0014465", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014465", "name": "ciliary dyskinesia, primary, type 30", "description": "" }, { "id": "MONDO:0014465", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014465", "name": "primary ciliary dyskinesia 30 without situs inversus", "description": "" }, { "id": "MONDO:0014465", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014465", "name": "primary ciliary dyskinesia caused by mutation in CCDC151", "description": "" }, { "id": "MONDO:0014465", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014465", "name": "primary ciliary dyskinesia type 30", "description": "" }, { "id": "MONDO:0014465", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014465", "name": "ciliary dyskinesia, primary, 30", "description": "" }, { "id": "MONDO:0014465", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014465", "name": "ciliary dyskinesia, primary, 30, with or without situs inversus", "description": "" }, { "id": "MIM:616037", "resource": "MIM", "url": "https://www.omim.org/entry/616037", "name": "Ciliary dyskinesia, primary, 30", "description": "Ciliary dyskinesia, primary, 30" } ], "evidence": [ { "id": "616037", "database": "MIM", "url": "https://www.omim.org/entry/616037" } ] } ], "snv": [ { "evidence": [ { "id": "rs1599466860", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1599466860" }, { "id": "rs1599466860", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1599466860" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 102, "end_pos": 102, "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (TIS->NIS).", "chr_id": "19", "chr_pos": "11430960", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T102", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs35061520", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs35061520" }, { "id": "rs35061520", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs35061520" }, { "id": "rs35061520", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs35061520" }, { "id": "rs35061520", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs35061520#frequency_tab" }, { "id": "rs35061520", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs35061520" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 205, "end_pos": 205, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->I).", "chr_id": "19", "chr_pos": "11426783", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.007588", "site_lbl": "T205", "disease": [ { "disease_id": "DOID:0110624", "recommended_name": { "id": "DOID:0110624", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110624", "name": "primary ciliary dyskinesia 30", "description": "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, recurrent upper and lower airway disease, bronchiectasis, nasal blockages, polyps, otitis media, and variable occurence of laterality defects and has_material_basis_in homozygous mutation in the CCDC151 gene on chromosome 19p13." }, "synonyms": [ { "id": "DOID:0110624", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110624", "name": "CILD30", "description": "" }, { "id": "DOID:0110624", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110624", "name": "primary ciliary dyskinesia 30 without situs inversus", "description": "" }, { "id": "MONDO:0014465", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014465", "name": "primary ciliary dyskinesia 30", "description": "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC151 gene." }, { 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"name": "primary ciliary dyskinesia type 30", "description": "" }, { "id": "MONDO:0014465", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014465", "name": "ciliary dyskinesia, primary, 30", "description": "" }, { "id": "MONDO:0014465", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014465", "name": "ciliary dyskinesia, primary, 30, with or without situs inversus", "description": "" }, { "id": "MIM:616037", "resource": "MIM", "url": "https://www.omim.org/entry/616037", "name": "Ciliary dyskinesia, primary, 30", "description": "Ciliary dyskinesia, primary, 30" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs1403786880", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1403786880" }, { "id": "rs1403786880", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1403786880#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 239, "end_pos": 239, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DES->NES).", "chr_id": "19", "chr_pos": "11426571", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D239", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs557803666", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs557803666" }, { "id": "rs557803666", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs557803666" }, { "id": "rs557803666", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs557803666" }, { "id": "rs557803666", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs557803666" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2, "end_pos": 2, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: 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"start_pos": 475, "end_pos": 475, "sequence_org": "H", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (HIT->NIT).", "chr_id": "19", "chr_pos": "11422482", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H475", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs763143668", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763143668" }, { "id": "rs763143668", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763143668" }, { "id": "rs763143668", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs763143668#frequency_tab" }, { "id": "rs763143668", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs763143668" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 545, "end_pos": 545, "sequence_org": "R", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: 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"present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000198003", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198003" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "61.97", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000198003", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198003" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "48.99", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000198003", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198003" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "57.54", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000198003", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198003" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "70.22", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000198003", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198003" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "54.57", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000198003", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198003" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "58.14", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000198003", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198003" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "57.82", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000198003", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198003" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "A5D8V7", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A5D8V7" } ], "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, 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"MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 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", 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}, { "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", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "No", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "A5D8V7", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A5D8V7" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", 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"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", 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"name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "A5D8V7", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A5D8V7" } ], "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. 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"" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": 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"MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "A5D8V7", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A5D8V7" } ], "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "No", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "A5D8V7", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A5D8V7" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "A5D8V7", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A5D8V7" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "No", "trend": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ 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"https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "A5D8V7", "url": "https://www.uniprot.org/uniprot/A5D8V7" } ], "common_name": "Human" } ], "gene": [ { "name": "ODAD3", "url": "https://www.uniprot.org/uniprot/A5D8V7", "locus": { "chromosome": "19", "start_pos": 11420604, "end_pos": 11435782, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000198003", "url": "https://www.ensembl.org/id/ENSG00000198003" } ] } } ], "crossref": [ { "id": "ENSG00000198003", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198003", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "ODAD3", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=ODAD3", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "115948", "url": "https://www.ncbi.nlm.nih.gov/gene/115948", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "28303", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=28303", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "A5D8V7", "url": "https://www.ebi.ac.uk/intact/interactors/id:A5D8V7*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR033192", "url": "https://www.ebi.ac.uk/interpro/entry/IPR033192", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:115948", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:115948", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "615956", "url": "http://www.omim.org/entry/615956", "database": "MIM", "categories": [ "Other" ] }, { "id": "616037", "url": "http://www.omim.org/entry/616037", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_A5D8V7", "url": "https://www.nextprot.org/entry/NX_A5D8V7", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "A5D8V7", "url": "https://oglcnac.org/atlas/detail/A5D8V7", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "A5D8V7", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=A5D8V7", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "AVIQEWK", "url": "https://omabrowser.org/oma/group/AVIQEWK/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "5320705at2759", "url": "http://www.orthodb.org/?query=5320705at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR46518", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR46518", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR46518:SF1", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR46518:SF1", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "8J07", "url": "https://www.rcsb.org/structure/8J07", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "A5D8V7", "url": "https://pharos.nih.gov/targets/A5D8V7", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_A5D8V7", "url": "http://purl.obolibrary.org/obo/PR_A5D8V7", "database": "PRO", "categories": [ "Protein" ] }, { "id": "NP_001289382", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001289382", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "A5D8V7", "url": "https://www.uniprot.org/uniprot/A5D8V7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A5D8V7-1", "url": "https://www.uniprot.org/uniprot/A5D8V7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A5D8V7-2", "url": "https://www.uniprot.org/uniprot/A5D8V7-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7EN59", "url": "https://www.uniprot.org/uniprot/K7EN59", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7EN59-1", "url": "https://www.uniprot.org/uniprot/K7EN59-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7EPB4", "url": "https://www.uniprot.org/uniprot/K7EPB4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7EPB4-1", "url": "https://www.uniprot.org/uniprot/K7EPB4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7EPK8", "url": "https://www.uniprot.org/uniprot/K7EPK8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7EPK8-1", "url": "https://www.uniprot.org/uniprot/K7EPK8-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MTSPLCRAASANALPPQDQASTPSSRVKGREASGKPSHLRGKGTAQAWTPGRSKGGSFHRGAGKPSVHSQVAELHKKIQLLEGDRKAFFESSQWNIKKNQETISQLRKETKALELKLLDLLKGDEKVVQAVIREWKWEKPYLKNRTGQALEHLDHRLREKVKQQNALRHQVVLRQRRLEELQLQHSLRLLEMAEAQNRHTEVAKTMRNLENRLEKAQMKAQEAEHITSVYLQLKAYLMDESLNLENRLDSMEAEVVRTKHELEALHVVNQEALNARDIAKNQLQYLEETLVRERKKRERYISECKKRAEEKKLENERMERKTHREHLLLQSDDTIQDSLHAKEEELRQRWSMYQMEVIFGKVKDATGTDETHSLVRRFLAQGDTFAQLETLKSENEQTLVRLKQEKQQLQRELEDLKYSGEATLVSQQKLQAEAQERLKKEERRHAEAKDQLERALRAMQVAKDSLEHLASKLIHITVEDGRFAGKELDPQADNYVPNLLGLVEEKLLKLQAQLQGHDVQEMLCHIANREFLASLEGRLPEYNTRIALPLATSKDKFFDEESEEEDNEVVTRASLKIRSQKLIESHKKHRRSRRS", "length": 595, "header": "sp|A5D8V7-1|ODAD3_HUMAN Isoform 1 of Outer dynein arm-docking complex subunit 3 OS=Homo sapiens OX=9606 GN=ODAD3 PE=1 SV=1 CANONICAL=A5D8V7-1" }, "isoforms": [ { "isoform_ac": "A5D8V7-1", "url": "", "sequence": { "sequence": "MTSPLCRAASANALPPQDQASTPSSRVKGREASGKPSHLRGKGTAQAWTPGRSKGGSFHRGAGKPSVHSQVAELHKKIQLLEGDRKAFFESSQWNIKKNQETISQLRKETKALELKLLDLLKGDEKVVQAVIREWKWEKPYLKNRTGQALEHLDHRLREKVKQQNALRHQVVLRQRRLEELQLQHSLRLLEMAEAQNRHTEVAKTMRNLENRLEKAQMKAQEAEHITSVYLQLKAYLMDESLNLENRLDSMEAEVVRTKHELEALHVVNQEALNARDIAKNQLQYLEETLVRERKKRERYISECKKRAEEKKLENERMERKTHREHLLLQSDDTIQDSLHAKEEELRQRWSMYQMEVIFGKVKDATGTDETHSLVRRFLAQGDTFAQLETLKSENEQTLVRLKQEKQQLQRELEDLKYSGEATLVSQQKLQAEAQERLKKEERRHAEAKDQLERALRAMQVAKDSLEHLASKLIHITVEDGRFAGKELDPQADNYVPNLLGLVEEKLLKLQAQLQGHDVQEMLCHIANREFLASLEGRLPEYNTRIALPLATSKDKFFDEESEEEDNEVVTRASLKIRSQKLIESHKKHRRSRRS", "length": 595, "header": "sp|A5D8V7-1|ODAD3_HUMAN Isoform 1 of Outer dynein arm-docking complex subunit 3 OS=Homo sapiens OX=9606 GN=ODAD3 PE=1 SV=1 CANONICAL=A5D8V7-1" }, "locus": { "chromosome": "19", "start_pos": 11435016, "end_pos": 11420838, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000356392.9", "url": "https://www.ensembl.org/id/ENST00000356392.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000348757.3", "url": "https://www.ensembl.org/id/ENSP00000348757.3" } ] } }, { "isoform_ac": "A5D8V7-2", "url": "", "sequence": { "sequence": "MHPPVAPCKKLRCPPTRSFTPTRGRSKEGDRKAFFESSQWNIKKNQETISQLRKETKALELKLLDLLKGDEKVVQAVIREWKWEKPYLKNRTGQALEHLDHRLREKVKQQNALRHQVVLRQRRLEELQLQHSLRLLEMAEAQNRHTEVAKTMRNLENRLEKAQMKAQEAEHITSVYLQLKAYLMDESLNLENRLDSMEAEVVRTKHELEALHVVNQEALNARDIAKNQLQYLEETLVRERKKRERYISECKKRAEEKKLENERMERKTHREHLLLQSDDTIQDSLHAKEEELRQRWSMYQMEVIFGKVKDATGTDETHSLVRRFLAQGDTFAQLETLKSENEQTLVRLKQEKQQLQRELEDLKYSGEATLVSQQKLQAEAQERLKKEERRHAEAKDQLERALRAMQVAKDSLEHLASKLIHITVEDGRFAGKELDPQADNYVPNLLGLVEEKLLKLQAQLQGHDVQEMLCHIANREFLASLEGRLPEYNTRIALPLATSKDKFFDEESEEEDNEVVTRASLKIRSQKLIESHKKHRRSRRS", "length": 541, "header": "sp|A5D8V7-2|ODAD3_HUMAN Isoform 2 of Outer dynein arm-docking complex subunit 3 OS=Homo sapiens OX=9606 GN=ODAD3 PE=1 SV=1 CANONICAL=A5D8V7-1" }, "locus": {} }, { "isoform_ac": "K7EN59-1", "url": "", "sequence": { "sequence": "MTSPLCRAASANALPPQDQASTPSSRVKGREASGKPSHLRGKGTAQAWTPGRSKGGSFHRGAGKPSVHSQVAELHKKIQLLEGDRKAFFESSQWNIKKNQETISQLRKETKALELKLLDLLKALEHLDHRLREKVKQQNALRHQVVLRQRRLEELQLQHSLRLLEMAEAQNRHTEVAKDESLNLENRLDSMEAEVVRTKHELEALHVVNQEALNARDIAKNQLQYLEETLVRERKKRERYISECKKRAEEKKLENERMERKTHREHLLLQSDDTIQDSLHAKEEELRQRWSMYQMEVIFGKVKDATGTDETHSLVRRFLAQGDTFAQLETLKSENEQTLVRLKQEKQQLQRELEDLKYSGEATLVSQQKLQAEAQERLKKEERRHAEAKDQLERALRAMQVAKDSLEHLASKLIHITVEDGRFAGKELDPQADNYVPNLLGLVEEKLLKLQAQLQGHDVQEMLCHIANREFLASLEGRLPEYNTRIALPLATSKDKFFDEESEEEDNEVVTRASLKIRSQKLIESHKKHRRSRRS", "length": 535, "header": "tr|K7EN59-1|K7EN59_HUMAN Computationally mapped isoform of Outer dynein arm docking complex subunit 3 OS=Homo sapiens OX=9606 GN=ODAD3 PE=1 SV=1 CANONICAL=A5D8V7-1" }, "locus": { "chromosome": "19", "start_pos": 11435016, "end_pos": 11420838, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000591179.5", "url": "https://www.ensembl.org/id/ENST00000591179.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000466800.1", "url": "https://www.ensembl.org/id/ENSP00000466800.1" } ] } }, { "isoform_ac": "K7EPB4-1", "url": "", "sequence": { "sequence": "MTSPLCRAASANALPPQDQASTPSSRVKGREASGKPSHLRGKGTAQAWTPGRSKGGSFHRGAGKPSVHSQVAELHKKIQLLESHSVARWECSGTISAHCNLRLPESLEPGRRRLW", "length": 115, "header": "tr|K7EPB4-1|ODAD3_HUMAN Computationally mapped isoform of Outer dynein arm-docking complex subunit 3 OS=Homo sapiens OX=9606 GN=ODAD3 PE=1 SV=1 CANONICAL=A5D8V7-1" }, "locus": { "chromosome": "19", "start_pos": 11435016, "end_pos": 11431187, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000591345.5", "url": "https://www.ensembl.org/id/ENST00000591345.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000467313.1", "url": "https://www.ensembl.org/id/ENSP00000467313.1" } ] } }, { "isoform_ac": "K7EPK8-1", "url": "", "sequence": { "sequence": "MAEAQNRHTEVAKTMRNLENRLEKAQMKAQEAEHITSVYLQLKAYLMDESLNLENRLDSMEAEVVRTKHELEALHVVNQEALNARDIAKNQLQYLEETLVRERKKRERYISECKKRAEEKKLENERMERKTHREHLLLQSDDTIQDSLHAKEEELRQRWSMYQMEVIFGKVKDATGTDETHSLVRRFLAQGDTFAQLETLKSENEQTLVRLKQEKQQLQRELEDLKYSGEATLVSQQKLQAEAQERLKKEERRHAEAKDQLERALRAMQVAKDSLEHLASKLIHITVEDGRFAGKELDPQADNYVPNLLGLVEEKLLKLQAQLQGHDVQEMLCHIANREFLASLEGRLPEYNTRIALPLATSKDKFFDEESEEEDNEVVTRASLKIRSQKLIESHKKHRRSRRS", "length": 404, "header": "tr|K7EPK8-1|K7EPK8_HUMAN Computationally mapped isoform of Outer dynein arm docking complex subunit 3 OS=Homo sapiens OX=9606 GN=ODAD3 PE=1 SV=1 CANONICAL=A5D8V7-1" }, "locus": { "chromosome": "19", "start_pos": 11426911, "end_pos": 11420838, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000586836.5", "url": "https://www.ensembl.org/id/ENST00000586836.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000467429.1", "url": "https://www.ensembl.org/id/ENSP00000467429.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 205, "start_aa": "Thr", "end_pos": 205, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr205", "evidence": [ { "id": "A5D8V7", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=A5D8V7" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "37340703", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37340703" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 2, "start_aa": "Thr", "end_pos": 2, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr2", "evidence": [ { "id": "A5D8V7", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/A5D8V7" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "CCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formation.", "journal": "American journal of human genetics", "date": "2014", "authors": "Hjeij R, Onoufriadis A, Watson CM, Slagle CE, Klena NT, Dougherty GW, Kurkowiak M, Loges NT, Diggle CP, Morante NF, Gabriel GC, Lemke KL, Li Y, Pennekamp P, Menchen T, Konert F, Marthin JK, Mans DA, Letteboer SJ, Werner C, Burgoyne T, Westermann C, Rutman A, Carr IM, O'Callaghan C, Moya E, Chung EM, Sheridan E, Nielsen KG, Roepman R, Bartscherer K, Burdine RD, Lo CW, Omran H, Mitchison HM", "evidence": [ { "database": "UniProtKB", "id": "A5D8V7", "url": "https://www.uniprot.org/uniprot/A5D8V7" }, { "database": "RefSeq", "id": "NP_001289382", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001289382" } ], "reference": [ { "type": "PubMed", "id": "25192045", "url": "https://glygen.org/publication/PubMed/25192045" } ] }, { "title": "Nonsense mutation in coiled-coil domain containing 151 gene (CCDC151) causes primary ciliary dyskinesia.", "journal": "Hum. Mutat.", "date": "2014", "authors": "Alsaadi MM, Erzurumluoglu AM, Rodriguez S, Guthrie PA, Gaunt TR, Omar HZ, Mubarak M, Alharbi KK, Al-Rikabi AC, Day IN", "evidence": [ { "database": "UniProtKB", "id": "A5D8V7", "url": "https://www.uniprot.org/uniprot/A5D8V7" } ], "reference": [ { "type": "PubMed", "id": "25224326", "url": "https://glygen.org/publication/PubMed/25224326" } ] }, { "title": "A triarylphosphine-trimethylpiperidine reagent for the one-step derivatization and enrichment of protein post-translational modifications and identification by mass spectrometry.", "journal": "Chemical communications (Cambridge, England)", "date": "2018", "authors": "Huo B, Zhang W, Zhao X, Dong H, Yu Y, Wang J, Qian X, Qin W", "evidence": [ { "database": "O-GlcNAc Database", "id": "A5D8V7", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=A5D8V7" }, { "database": "O-GlcNAc Atlas", "id": "A5D8V7", "url": "https://oglcnac.org/atlas/detail/A5D8V7" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "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", "date": "2019", "authors": "Zhang W, Li D, Wei S, Guo T, Wang J, Luo H, Yang Y, Tan Z", "evidence": [ { "database": "RefSeq", "id": "NP_001289382", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001289382" } ], "reference": [ { "type": "PubMed", "id": "30504913", "url": "https://glygen.org/publication/PubMed/30504913" } ] }, { "title": "Identification of a frame shift mutation in the CCDC151 gene in a Han-Chinese family with Kartagener syndrome.", "journal": "Bioscience reports", "date": "2020", "authors": "Deng S, Wu S, Xia H, Xiong W, Deng X, Liao J, Deng H, Yuan L", "evidence": [ { "database": "RefSeq", "id": "NP_001289382", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001289382" } ], "reference": [ { "type": "PubMed", "id": "32490514", "url": "https://glygen.org/publication/PubMed/32490514" } ] }, { "title": "`Two Birds One Stone` Strategy for the Site-Specific Analysis of Core Fucosylation and O-GlcNAcylation.", "journal": "Journal of the American Chemical Society", "date": "2023-07-26", "authors": "Luo Yawen, Wang Yuqiu, Tian Yinping, Zhou Hu, Wen Liuqing", "evidence": [ { "database": "O-GlcNAc Database", "id": "A5D8V7", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=A5D8V7" } ], "reference": [ { "type": "PubMed", "id": "37340703", "url": "https://glygen.org/publication/PubMed/37340703" } ] } ], "pathway": [ { "id": "hsa:115948", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:115948", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "D4ABL9-1", "protein_name": "Outer dynein arm docking complex subunit 3", "gene_name": "Odad3", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MTSPLCWAAATSTVTSQEPVPAPSSKTKGSKVHRPRGKAMGRAQAWPAHHSKTAASFQLMKSSVQAQVLELQRKIQLLEGDRKAFYESSQWNMKKNQDTINHLQEETKSLHMQLKDLLQGDSKVVQAIIQEWRSEKPYLKNRTCEQALEHLEHQLREKMNQLNALRHQVILRQKRLEELRLQHSLRQLEMAEIQDSNTEAAKTMRNLENRLEKARMKAEEAEHITNVYLQLKSYLQEESLNLENRLDSMEAEVMNTKHEVQELKVVNQEAINARDIAKNQLQYLEETAIRDRKKRDHYITDCKKRAEEKKLQTERMERKTHRDHVLLQSEDTIQDHQRHKEQELRQRWSMYQMEVMFGKVKDATGVAESHAVVRRFLAQDETFTQLETLKRDNELALAKLKEEKQRLQRELENLKYSGDATLVSQRKLHEEMKKAFKKEEQRHSEVLERLDRTSRVLELVKDCLEHLANKLSHVQMVGPALVNNPLVRRESEDYPSNLLVVVQEKLLKLQEHLDNQDVPEMLRHIADREVHTDHSRLPLYNTRILLPVASVKDKFFDEEESEDDDRDVVTRAAFKIRSQKLIEARSKKRNKSRRS", "length": 595 }, "evidence": [ { "id": "A5D8V7", "url": "https://omabrowser.org/oma/group/A5D8V7/", "database": "OMA" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q8BSN3-1", "protein_name": "Outer dynein arm-docking complex subunit 3", "gene_name": "ODAD3", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": 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"A5D8V7", "url": "https://www.uniprot.org/uniprot/A5D8V7" } ], "pmid": "" }, { "name": "flagellated sperm motility", "id": "GO:0030317", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030317", "evidence": [ { "database": "UniProtKB", "id": "A5D8V7", "url": "https://www.uniprot.org/uniprot/A5D8V7" } ], "pmid": "" }, { "name": "multicellular organism growth", "id": "GO:0035264", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035264", "evidence": [ { "database": "UniProtKB", "id": "A5D8V7", "url": "https://www.uniprot.org/uniprot/A5D8V7" } ], "pmid": "" }, { "name": "brain development", "id": "GO:0007420", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007420", "evidence": [ { "database": "UniProtKB", "id": "A5D8V7", "url": "https://www.uniprot.org/uniprot/A5D8V7" } ], "pmid": "" }, { "name": "determination of left/right symmetry", "id": "GO:0007368", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007368", "evidence": [ { "database": "UniProtKB", "id": "A5D8V7", "url": "https://www.uniprot.org/uniprot/A5D8V7" } ], "pmid": "" }, { "name": "regulation of cilium assembly", "id": "GO:1902017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902017", "evidence": [ { "database": "UniProtKB", "id": "A5D8V7", "url": "https://www.uniprot.org/uniprot/A5D8V7" } ], "pmid": "" }, { "name": "cilium movement", "id": "GO:0003341", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003341", "evidence": [ { "database": "UniProtKB", "id": "A5D8V7", "url": "https://www.uniprot.org/uniprot/A5D8V7" } ], "pmid": "" }, { "name": "outer dynein arm assembly", "id": "GO:0036158", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036158", "evidence": [ { "database": "UniProtKB", "id": "A5D8V7", "url": "https://www.uniprot.org/uniprot/A5D8V7" } ], "pmid": "" }, { "name": "epithelial cilium movement involved in determination of left/right asymmetry", "id": "GO:0060287", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060287", "evidence": [ { "database": "UniProtKB", "id": "A5D8V7", "url": "https://www.uniprot.org/uniprot/A5D8V7" } ], "pmid": "" }, { "name": "determination of heart left/right asymmetry", "id": "GO:0061371", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061371", "evidence": [ { "database": "UniProtKB", "id": "A5D8V7", "url": "https://www.uniprot.org/uniprot/A5D8V7" } ], "pmid": "" }, { "name": "cerebrospinal fluid circulation", "id": "GO:0090660", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090660", "evidence": [ { "database": "UniProtKB", "id": "A5D8V7", "url": "https://www.uniprot.org/uniprot/A5D8V7" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 144, "end_pos": 146, "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": 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