{ "uniprot_canonical_ac": "A5D8W1-1", "uniprot_ac": "A5D8W1", "uniprot_id": "CFA69_HUMAN", "mass": { "chemical_mass": 105883.0, "monoisotopic_mass": 105883.0 }, "refseq": { "ac": "NP_001034795", "name": "cilia- and flagella-associated protein 69 isoform 1", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034795" }, "gene_names": [ { "name": "CFAP69", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/A5D8W1", "id": "A5D8W1" }, { "name": "C7orf63; FAP69; SPGF24", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034795", "id": "NP_001034795" }, { "name": "C7orf63", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A5D8W1", "id": "A5D8W1" }, { "name": "CFAP69", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034795", "id": "NP_001034795" } ], "protein_names": [ { "name": "Cilia- and flagella-associated protein 69", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "A5D8W1" }, { "name": "cilia- and flagella-associated protein 69 isoform 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034795", "id": "NP_001034795" } ], "function": [ { "annotation": "A CpG island proximal to FLJ21062 is frequently methylated in diffuse large B-cell lymphoma (DLBCL).", "evidence": [ { "database": "RefSeq", "id": "NP_001034795", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034795" }, { "database": "PubMed", "id": "18288132", "url": "https://glygen.org/publication/PubMed/18288132" } ] }, { "annotation": "A novel variant in CFAP69 causes asthenoteratozoospermia with treatable ART outcomes and a literature review. Review article", "evidence": [ { "database": "RefSeq", "id": "NP_001034795", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034795" }, { "database": "PubMed", "id": "37392306", "url": "https://glygen.org/publication/PubMed/37392306" } ] }, { "annotation": "CFAP69 is necessary for flagellum assembly/stability and that in both humans and mice", "evidence": [ { "database": "RefSeq", "id": "NP_001034795", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034795" }, { "database": "PubMed", "id": "29606301", "url": "https://glygen.org/publication/PubMed/29606301" } ] }, { "annotation": "Cilium- and flagellum-associated protein (PubMed:29606301). In the olfactory epithelium, regulates the speed of activation and termination of the odor response and thus contributes to the robustness of olfactory transduction pathways (By similarity). Required for sperm flagellum assembly and stability (PubMed:29606301).", "evidence": [ { "database": "UniProtKB", "id": "A5D8W1", "url": "https://www.uniprot.org/uniprot/A5D8W1#function" }, { "database": "PubMed", "id": "29606301", "url": "https://glygen.org/publication/PubMed/29606301" }, { "database": "UniProtKB", "id": "Q8BH53", "url": "https://www.uniprot.org/uniprot/Q8BH53#function" } ] }, { "annotation": "Homozygous loss-of-function mutations of CFAP69 are associated with abnormalities of the sperm flagella and severe asthenoteratospermia.", "evidence": [ { "database": "RefSeq", "id": "NP_001034795", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034795" }, { "database": "PubMed", "id": "30415212", "url": "https://glygen.org/publication/PubMed/30415212" } ] } ], "disease": [ { "disease_id": "DOID:0111929", "recommended_name": { "id": "DOID:0111929", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111929", "name": "spermatogenic failure 24", "description": "A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella, malformed sperm heads, and very low sperm counts that has_material_basis_in homozygous or compound heterozygous mutation in the CFAP69 gene on chromosome 7q21.13." }, "synonyms": [ { "id": "DOID:0111929", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111929", "name": "SPGF24", "description": "" }, { "id": "MONDO:0054728", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0054728", "name": "spermatogenic failure 24", "description": "" }, { "id": "MONDO:0054728", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0054728", "name": "spermatogenic failure 24", "description": "" }, { "id": "MONDO:0054728", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0054728", "name": "SPGF24", "description": "" }, { "id": "MIM:617959", "resource": "MIM", "url": "https://www.omim.org/entry/617959", "name": "Spermatogenic failure 24", "description": "Spermatogenic failure 24" } ], "evidence": [ { "id": "617959", "database": "MIM", "url": "https://www.omim.org/entry/617959" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "76.54", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000105792", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105792" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "62.29", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000105792", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105792" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "71.29", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000105792", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105792" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "70.8", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000105792", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105792" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "78.79", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000105792", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105792" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "74.7", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000105792", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105792" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "65.73", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000105792", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105792" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "74.58", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000105792", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105792" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "85.36", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000105792", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105792" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "65.97", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000105792", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105792" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "79.44", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000105792", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105792" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "93.3", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000105792", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105792" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "85.03", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000105792", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105792" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "A5D8W1", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A5D8W1" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" 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"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, 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"http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", 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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", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "A5D8W1", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A5D8W1" } ], "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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"database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7C002-1", "url": "https://www.uniprot.org/uniprot/H7C002-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7C076", "url": "https://www.uniprot.org/uniprot/H7C076", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7C076-1", "url": "https://www.uniprot.org/uniprot/H7C076-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7C3Z7", "url": "https://www.uniprot.org/uniprot/H7C3Z7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7C3Z7-1", "url": "https://www.uniprot.org/uniprot/H7C3Z7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7C468", "url": "https://www.uniprot.org/uniprot/H7C468", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7C468-1", "url": "https://www.uniprot.org/uniprot/H7C468-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MWTEEAGATAEAQESGIRNKSSSSSQIPVVGVVTEDDEAQDVFKPMDLNRVIKLLEETDKDGLEEKQLKFVKKLVQCYQNGLPLRDLAQIFKILNLCSGKIKNQPRFIESAYDIIKLCGLPFLKKKVSDEITYAEDTANSIALLGDLMKIPSSELRIQICKCIVDFYHAEPPKKHIPGYQQASSSYKIQMAEVGGLAKTMVQSMTLLENQLVEKLWVLKVLQHLSTSEVNCTIMMKAQAASGICTHLNDPDPSGQLLFRSSEILWNLLEKSSKEEVIQQLSNLECLLALKEVFKNLFMRGFSHYDRQLRNDILVITTIIAQNPEAPMIECGFTKDLILFATFNEVKSQNLLVKGLKLSNSYEDFELKKLLFNVIVILCKDLPTVQLLIDGKVILALFTYVKKPEKQKIIDWSAAQHEELQLHAIATLSSVAPLLIEEYMSCQGNARVLAFLEWCESEDPFFSHGNSFHGTGGRGNKFAQMRYSLRLLRAVVYLEDETVNKDLCEKGTIQQMIGIFKNIISKPNEKEEAIVLEIQSDILLILSGLCENHIQRKEIFGTEGVDIVLHVMKTDPRKLQSGLGYNVLLFSTLDSIWCCILGCYPSEDYFLEKEGIFLLLDLLALNQKKFCNLILGIMVEFCDNPKTAAHVNAWQGKKDQTAASLLIKLWRKEEKELGVKRDKNGKIIDTKKPLFTSFQEEQKIIPLPANCPSIAVMDVSENIRAKIYAILGKLDFENLPGLSAEDFVTLCIIHRYLDFKIGEIWNEIYEEIKLEKLRPVTTDKKALEAITTASENIGKMVASLQSDIIESQACQDMQNEQKVYAKIQATHKQRELANKSWEDFLARTSNAKTLKKAKSLQEKAIEASRYHKRPQNAIFHQTHIKGLNTTVPSGGVVTVESTPARLVGGPLVDTDIALKKLPIRGGALQRVKAVKIVDAPKKSIPT", "length": 941, "header": "sp|A5D8W1-1|CFA69_HUMAN Isoform 1 of Cilia- and flagella-associated protein 69 OS=Homo sapiens OX=9606 GN=CFAP69 PE=1 SV=3 CANONICAL=A5D8W1-1" }, "isoforms": [ { "isoform_ac": "A5D8W1-1", "url": "", "sequence": { "sequence": "MWTEEAGATAEAQESGIRNKSSSSSQIPVVGVVTEDDEAQDVFKPMDLNRVIKLLEETDKDGLEEKQLKFVKKLVQCYQNGLPLRDLAQIFKILNLCSGKIKNQPRFIESAYDIIKLCGLPFLKKKVSDEITYAEDTANSIALLGDLMKIPSSELRIQICKCIVDFYHAEPPKKHIPGYQQASSSYKIQMAEVGGLAKTMVQSMTLLENQLVEKLWVLKVLQHLSTSEVNCTIMMKAQAASGICTHLNDPDPSGQLLFRSSEILWNLLEKSSKEEVIQQLSNLECLLALKEVFKNLFMRGFSHYDRQLRNDILVITTIIAQNPEAPMIECGFTKDLILFATFNEVKSQNLLVKGLKLSNSYEDFELKKLLFNVIVILCKDLPTVQLLIDGKVILALFTYVKKPEKQKIIDWSAAQHEELQLHAIATLSSVAPLLIEEYMSCQGNARVLAFLEWCESEDPFFSHGNSFHGTGGRGNKFAQMRYSLRLLRAVVYLEDETVNKDLCEKGTIQQMIGIFKNIISKPNEKEEAIVLEIQSDILLILSGLCENHIQRKEIFGTEGVDIVLHVMKTDPRKLQSGLGYNVLLFSTLDSIWCCILGCYPSEDYFLEKEGIFLLLDLLALNQKKFCNLILGIMVEFCDNPKTAAHVNAWQGKKDQTAASLLIKLWRKEEKELGVKRDKNGKIIDTKKPLFTSFQEEQKIIPLPANCPSIAVMDVSENIRAKIYAILGKLDFENLPGLSAEDFVTLCIIHRYLDFKIGEIWNEIYEEIKLEKLRPVTTDKKALEAITTASENIGKMVASLQSDIIESQACQDMQNEQKVYAKIQATHKQRELANKSWEDFLARTSNAKTLKKAKSLQEKAIEASRYHKRPQNAIFHQTHIKGLNTTVPSGGVVTVESTPARLVGGPLVDTDIALKKLPIRGGALQRVKAVKIVDAPKKSIPT", "length": 941, "header": "sp|A5D8W1-1|CFA69_HUMAN Isoform 1 of Cilia- and flagella-associated protein 69 OS=Homo sapiens OX=9606 GN=CFAP69 PE=1 SV=3 CANONICAL=A5D8W1-1" }, "locus": { "chromosome": "7", "start_pos": 90310235, "end_pos": 90245425, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000389297.8", "url": "https://www.ensembl.org/id/ENST00000389297.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000373948.4", "url": "https://www.ensembl.org/id/ENSP00000373948.4" } ] } }, { "isoform_ac": "A5D8W1-2", "url": "", "sequence": { "sequence": "MWTEEAGATAEAQESGIRNKSSSSSQIPVVGVVTEDDEAQDVFKPMDLNRVIKLLEETDKDGLEEKQLKFVKKLVQCYQNGLPLRDLAQIFKILNLCSGKIKNQPRFIESAYDIIKLCGLPFLKKKVSDEITYAEDTANSIALLGDLMKIPSSELRIQICKCIVDFYHAEPPKKHIPGYQQASSSYKIQMAEVGGLAKTMVQSMTLLENQLVEKLWVLKVLQHLSTSEVNCTIMMKAQAASGICTHLNDPDPSGQLLFRSSEILWNLLEKSSKEEVIQQLSNLECLLALKEVFKNLFMRGFSHYDRQLRNDILVITTIIAQNPEAPMIECGFTKDLILFATFNEVKSQNLLVKGLKLSNSYEDFELKKLLFNVIVILCKDLPTVQLLIDGKVILALFTYVKKPEKQKIIDWSAAQHEELQLHAIATLSSVAPLLIEEYMSCQGNARVLAFLEWCESEDPFFSHGNSFHGTGGRGNKFAQMRYSLRLLRAVVYLEDETVNKDLCEKGTIQQMIGIFKNIISKPNEKEEAIVLEIQSDILLILSGLCENHIQRKEIFGTEGVDIVLHVMKTDPRKLQSGLGYNVLLFSTLDSIWCCILGCYPSEDYFLEKEGIFLLLDLLALNQKKFCNLILGIMVEFCDNPKTAAHVNAWQGKKDQTAASLLIKLWRKEEKELGVKRDKNGKIIDFENLPGLSAEDFVTLCIIHRYLDFKIGEIWNEIYEEIKLEKLRPVTTDKKALEAITTASENIGKMVASLQSDIIESQACQDMQNEQKVYAKIQATHKQRELANKSWEDFLARTSNAKTLKKAKSLQEKAIEASRYHKRPQNAIFHQTHIKGLNTTVPSGGVVTVESTPARLVGGPLVDTDIALKKLPIRGGALQRVKAVKIVDAPKKSIPT", "length": 895, "header": "sp|A5D8W1-2|CFA69_HUMAN Isoform 2 of Cilia- and flagella-associated protein 69 OS=Homo sapiens OX=9606 GN=CFAP69 PE=1 SV=3 CANONICAL=A5D8W1-1" }, "locus": {} }, { "isoform_ac": "A5D8W1-3", "url": "", "sequence": { "sequence": "MWTEEAGATAEAQESGIRNKSSSSSQIPVVGVVTEDDEAQDVFKPMDLNRVIKLLEETDKDGLEEKQLKFVKKLVQCYQNGLPLRDLAQIFKILNLCSGKIKNQPRFIESAYDIIKLCGLPFLKKKVSDEITYAEDTANSIALLGDLMKIPSSELRIQICKCIVDFYHAEPPKKHIPGYQQASSSYKIQMAEVGGLAKTMVQSMTLLENQLVEKLWVLKVLQHLSTSGL", "length": 229, "header": "sp|A5D8W1-3|CFA69_HUMAN Isoform 3 of Cilia- and flagella-associated protein 69 OS=Homo sapiens OX=9606 GN=CFAP69 PE=1 SV=3 CANONICAL=A5D8W1-1" }, "locus": { "chromosome": "7", "start_pos": 90273991, "end_pos": 90245425, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000451029.5", "url": "https://www.ensembl.org/id/ENST00000451029.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000411234.1", "url": "https://www.ensembl.org/id/ENSP00000411234.1" } ] } }, { "isoform_ac": "A5D8W1-4", "url": "", "sequence": { "sequence": "MWTEEAGATAEAQESGIRNKSSSSSQIPVVGVVTEDDEAQDVFKPMDLNRVIKLLEETDKDGLEEKQLKFVKKLVQCYQNGLPLRDLAQIFKILNLCSGKIKNQPRFIESAYDIIKLLPFLKKKVSDEITYAEDTANSIALLGDLMKIPSSELRIQICKCIVDFYHAEPPKKHIPGYQQASSSYKIQMAEVGGLAKTMVQSMTLLENQLVEKLWVLKVLQHLSTSGL", "length": 227, "header": "sp|A5D8W1-4|CFA69_HUMAN Isoform 4 of Cilia- and flagella-associated protein 69 OS=Homo sapiens OX=9606 GN=CFAP69 PE=1 SV=3 CANONICAL=A5D8W1-1" }, "locus": {} }, { "isoform_ac": "A5D8W1-5", "url": "", "sequence": { "sequence": "MWTEEAGATAEAQESGIRNKSSSSSQIPVVGVVTEDDEAQDVFKPMDLNRVIKLLEETDKDGLEEKQLKFVKKLVQCYQNGLPLRDLAQIFKILNLCSGKIKNQPRFIESAYDIIKLCGLPFLKKKVSDEITYAEDTANSIALLGDLMKIPSSELRIQICYQQASSSYKIQMAEVGGLAKTMVQSMTLLENQLVEKLWVLKVLQHLSTSEVNCTIMMKAQAASGICTHLNDPDPSGQLLFRSSEILWNLLEKSSKEEVIQQLSNLECLLALKEVFKNLFMRGFSHYDRQLRNDILVITTIIAQNPEAPMIECGFTKDLILFATFNEVKSQNLLVKGLKLSNSYEDFELKKLLFNVIVILCKDLPTVQLLIDGKVILALFTYVKKPEKQKIIDWSAAQHEELQLHAIATLSSVAPLLIEEYMSCQGNARVLAFLEWCESEDPFFSHGNSFHGTGGRGNKFAQMRYSLRLLRAVVYLEDETVNKDLCEKGTIQQMIGIFKNIISKPNEKEEAIVLEIQSDILLILSGLCENHIQRKEIFGTEGVDIVLHVMKTDPRKLQSGLGYNVLLFSTLDSIWCCILGCYPSEDYFLEKEGIFLLLDLLALNQKKFCNLILGIMVEFCDNPKTAAHVNAWQGKKDQTAASLLIKLWRKEEKELGVKRDKNGKIIDTKKPLFTSFQEEQKIIPLPANCPSIAVMDVSENIRAKIYAILGKLDFENLPGLSAEDFVTLCIIHRYLDFKIGEIWNEIYEEIKLEKLRPVTTDKKALEAITTASENIGKMVASLQSDIIESQACQDMQNEQKVYAKIQATHKQRELANKSWEDFLARTSNAKTLKKAKSLQEKAIEASRYHKRPQNAIFHQTHIKGLNTTVPSGGVVTVESTPARLVGGPLVDTDIALKKLPIRGGALQRVKAVKIVDAPKKSIPT", "length": 923, "header": "sp|A5D8W1-5|CFA69_HUMAN Isoform 5 of Cilia- and flagella-associated protein 69 OS=Homo sapiens OX=9606 GN=CFAP69 PE=1 SV=3 CANONICAL=A5D8W1-1" }, "locus": { "chromosome": "7", "start_pos": 90310235, "end_pos": 90245425, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000497910.5", "url": "https://www.ensembl.org/id/ENST00000497910.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000419549.1", "url": "https://www.ensembl.org/id/ENSP00000419549.1" } ] } }, { "isoform_ac": "F8WBX7-1", "url": "", "sequence": { "sequence": "MWTEEAGATAEAQESGIRNKSSSSSQIPVVGVVTEDDEAQDVFKPMDLNRVIKLLEETDKDGLEEKQLKFVKKLVQCYQNGLPLRDLAQIFKILNLCSGKIKNQPRFIESAYDIIKLCG", "length": 119, "header": "tr|F8WBX7-1|F8WBX7_HUMAN Computationally mapped isoform of Cilia and flagella associated protein 69 OS=Homo sapiens OX=9606 GN=CFAP69 PE=1 SV=1 CANONICAL=A5D8W1-1" }, "locus": { "chromosome": "7", "start_pos": 90268286, "end_pos": 90245425, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000427396.5", "url": "https://www.ensembl.org/id/ENST00000427396.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000411143.1", "url": "https://www.ensembl.org/id/ENSP00000411143.1" } ] } }, { "isoform_ac": "H7BZV2-1", "url": "", "sequence": { "sequence": "ELQLHAIATLSSVAPLLIEEYMSCQGNARVLAFLEWCESEDPFFSHGNSFHGTGGRGNKFAQMRYSLRLLRAVVYLEDETVNKDLCEKGTIQQMIGIFKNIISKPNEKEEAIVLEIQSDILLILSGLCENHIQRKEIFGTEGVDIVLHVMKTDPRKLQSGLGYNVLLFSTLDSIWCCILGCYPSEDYFLEKEGIFLLLDLLALNQKKFCNLILGIMVEFCDNPKTAAHVNAWQGKKDQTAASLLIKLWRKEEKELGVKRDKNGKIIDFENLPGLSAEDFVTLCIIHRYLDFKIGEIWNEIYEEIKLEKLRPVTTDKKALEAITTASENIGKMVASLQSDIIESQACQDMQNEQKVYAKIQATHKQRELANKSWEDFLARTSNAKTLKKAKSLQEKAIEASRYHKRPQNAIFHQTHIKGLNTTVPSGGVVTVESTPARLVGGPLVDTDIALKKLPIRGGALQRVKAVKIVDAPKKSIPT", "length": 478, "header": "tr|H7BZV2-1|H7BZV2_HUMAN Computationally mapped isoform of Cilia and flagella associated protein 69 OS=Homo sapiens OX=9606 GN=CFAP69 PE=1 SV=1 CANONICAL=A5D8W1-1" }, "locus": { "chromosome": "7", "start_pos": 90310235, "end_pos": 90279773, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000449577.5", "url": "https://www.ensembl.org/id/ENST00000449577.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000391571.1", "url": "https://www.ensembl.org/id/ENSP00000391571.1" } ] } }, { "isoform_ac": "H7C002-1", "url": "", "sequence": { "sequence": "DGLEEKQLKFVKKLVQCYQNGLPLRDLAQIFKILNLCSGKIKNQPRFIESAYDIIKLCGLPFLKKKVSDEITYAEDTANSIALLGDLMKIPSSELRIQICKCIVDFYHAEPPKKHIPGYQQASSSYKIQMAEVGGLAKTMVQSMTLLENQLVEKLWVLKVLQHLSTSEVNCTIMMKAQAASGICTHLNDPDPSGQLLFRSSEILWNLLEKSSKEEVIQQLSNLECLLALKEVFKNLFMRGFSHYDRQLRNDILVITTIIAQNPEAPMILLIDGKVILALFTYVKKPEKQKIIDWSAAQHEELQLHAIATLSSVAPLLIEEYMSCQGNARVLAFLEWCESEDPFFSHGNSFHGTGGRGNKFAQMRYSLRLLRAVVYLEDETVNKDLCEKGTIQQMIGIFKNIISKPNEKEEAIVLEIQSDILLILSGLCENHIQRKEIFGTEGVDIVLHVMKTDPRKLQSGLGYNVLLFSTLDSIWCCILGCYPSEDYFLEKEGIFLLLDLLAKDQTAASLLIKLW", "length": 515, "header": "tr|H7C002-1|H7C002_HUMAN Computationally mapped isoform of Cilia and flagella associated protein 69 OS=Homo sapiens OX=9606 GN=CFAP69 PE=1 SV=1 CANONICAL=A5D8W1-1" }, "locus": { "chromosome": "7", "start_pos": 90300004, "end_pos": 90258098, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000457170.6", "url": "https://www.ensembl.org/id/ENST00000457170.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000392365.2", "url": "https://www.ensembl.org/id/ENSP00000392365.2" } ] } }, { "isoform_ac": "H7C076-1", "url": "", "sequence": { "sequence": "XMVQSMTLLENQLVEKLWVLKVLQHLSTSEVNCTIMMKAQAASGICTHLNDPDPSGQLLFRSSEILWNLLEKSSKEEVIQQLSNLECLL", "length": 89, "header": "tr|H7C076-1|H7C076_HUMAN Computationally mapped isoform of Cilia and flagella associated protein 69 OS=Homo sapiens OX=9606 GN=CFAP69 PE=1 SV=1 CANONICAL=A5D8W1-1" }, "locus": { "chromosome": "7", "start_pos": 90271960, "end_pos": 90271589, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000418199.1", "url": "https://www.ensembl.org/id/ENST00000418199.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000393339.1", "url": "https://www.ensembl.org/id/ENSP00000393339.1" } ] } }, { "isoform_ac": "H7C3Z7-1", "url": "", "sequence": { "sequence": "XEQKVYAKIQATHKQRELANKSWEDFLARTSNAKTLKVPSGGVVTVESTPARLVGGPLVDTDIALKKLPIRGGALQRVKAVKIVDAPKKSIPT", "length": 93, "header": "tr|H7C3Z7-1|H7C3Z7_HUMAN Computationally mapped isoform of Cilia and flagella associated protein 69 OS=Homo sapiens OX=9606 GN=CFAP69 PE=1 SV=1 CANONICAL=A5D8W1-1" }, "locus": { "chromosome": "7", "start_pos": 90310237, "end_pos": 90307077, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000445156.1", "url": "https://www.ensembl.org/id/ENST00000445156.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000414772.1", "url": "https://www.ensembl.org/id/ENSP00000414772.1" } ] } }, { "isoform_ac": "H7C468-1", "url": "", "sequence": { "sequence": "XPSIAVMDVSENIRAKIYAILGKLDFENLPGLSAEDFVTLCIIHRYLDFKIQATHKQRELANKSWEDFLARTSNAKTLKKAKSLQEKAIEASRYHKRPQNAIFHQTHIKGLNTTVPSGGVVTVESTPARLVGGPLVDTDIALKKLPIRGGALQRVKAVKIVDAPKKSIPT", "length": 170, "header": "tr|H7C468-1|H7C468_HUMAN Computationally mapped isoform of Cilia and flagella associated protein 69 OS=Homo sapiens OX=9606 GN=CFAP69 PE=1 SV=1 CANONICAL=A5D8W1-1" }, "locus": { "chromosome": "7", "start_pos": 90310237, "end_pos": 90304036, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000412839.5", "url": "https://www.ensembl.org/id/ENST00000412839.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000415818.1", "url": "https://www.ensembl.org/id/ENSP00000415818.1" } ] } } ], "glycosylation": [], "phosphorylation": [], "glycation": [], "keywords": [], "publication": [ { "title": "DNA methylation profiles in diffuse large B-cell lymphoma and their relationship to gene expression status.", "journal": "Leukemia", "date": "2008", "authors": "Pike BL, Greiner TC, Wang X, Weisenburger DD, Hsu YH, Renaud G, Wolfsberg TG, Kim M, Weisenberger DJ, Siegmund KD, Ye W, Groshen S, Mehrian-Shai R, Delabie J, Chan WC, Laird PW, Hacia JG", "evidence": [ { "database": "RefSeq", "id": "NP_001034795", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034795" } ], "reference": [ { "type": "PubMed", "id": "18288132", "url": "https://glygen.org/publication/PubMed/18288132" } ] }, { "title": "Absence of CFAP69 Causes Male Infertility due to Multiple Morphological Abnormalities of the Flagella in Human and Mouse.", "journal": "American journal of human genetics", "date": "2018", "authors": "Dong FN, Amiri-Yekta A, Martinez G, Saut A, Tek J, Stouvenel L, Lores P, Karaouzene T, Thierry-Mieg N, Satre V, Brouillet S, Daneshipour A, Hosseini SH, Bonhivers M, Gourabi H, Dulioust E, Arnoult C, Toure A, Ray PF, Zhao H, Coutton C", "evidence": [ { "database": "UniProtKB", "id": "A5D8W1", "url": "https://www.uniprot.org/uniprot/A5D8W1" }, { "database": "RefSeq", "id": "NP_001034795", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034795" } ], "reference": [ { "type": "PubMed", "id": "29606301", "url": "https://glygen.org/publication/PubMed/29606301" } ] }, { "title": "Novel homozygous CFAP69 mutations in humans and mice cause severe asthenoteratospermia with multiple morphological abnormalities of the sperm flagella.", "journal": "Journal of medical genetics", "date": "2019", "authors": "He X, Li W, Wu H, Lv M, Liu W, Liu C, Zhu F, Li C, Fang Y, Yang C, Cheng H, Zhang J, Tan J, Chen T, Tang D, Song B, Wang X, Zha X, Wang H, Wei Z, Yang S, Saiyin H, Zhou P, Jin L, Wang J, Zhang Z, Zhang F, Cao Y", "evidence": [ { "database": "RefSeq", "id": "NP_001034795", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034795" } ], "reference": [ { "type": "PubMed", "id": "30415212", "url": "https://glygen.org/publication/PubMed/30415212" } ] }, { "title": "A novel variant in CFAP69 causes asthenoteratozoospermia with treatable ART outcomes and a literature review.", "journal": "Journal of assisted reproduction and genetics", "date": "2023-09", "authors": "Tang Xiangrong, Ma Jing, Wang Xinglin, Long Shunhua, Wan Ling, Yu Haibing, Yang Jigao, Huang Guoning, Lin Tingting", "evidence": [ { "database": "RefSeq", "id": "NP_001034795", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034795" } ], "reference": [ { "type": "PubMed", "id": "37392306", "url": "https://glygen.org/publication/PubMed/37392306" } ] } ], "pathway": [ { "id": "hsa:79846", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:79846", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "A0A8I6AJA3-1", "protein_name": "Cilia and flagella associated protein 69", "gene_name": "Cfap69", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MITLFPNKILKPLRDLAQIFKILSLCAEKIEKQPCFVEPASEIIKLCGLPFLKKKVSDEITYTEDTANSFALLGELMKIPSSKLRIQICKCIVDFYHAEPLKKHISGYQQVSSSFKIKMVEVGGLAKAMVQSALLLENQLVEKLWVLKVLQHLSTSGVNCTLMVKAQAASRICAHLNDPDPSGQLLFRSSEVLWNLLEKSSKEEIIQQLSNLECLLTLKEVFKNLVMRGHSHYERQLRNDILVITTIIAQNPGAPMIECGFTRDLILFATFNEVKSQNPLVKSLKLFNCYEDFELKKLLFNIIVILCKDLTTVQLLIDGKVILALLTYVKKPERLKIIEWSAAQYEELQLHAIATLSSVAPLLIEEYMSCHGNARILAFLEWCGHEDSYFIHGNSFHGTGGRGNKFAQMRYTLRLLRAMVYLEDETVNKDLCERGVIHQLIEIFKTMMSRPAEKEEAIALEIQSDTLLILSGLCENYIQRKEMFGTEGVDIVLHVMKTDPKNLQRGLGYNVLLFSTLDSIWCCILGCYSSEDYFLEKEGIFLLLDILALNQKKFCNLILGIMVEFCDNPKTSAHVNAWRGKKDLTAASLLIKLWRKEEKELGVKRDKNGKIVDTKRPLFTSFQEEQKIVPLPANCPSIAVMDVAENIRAKIYAVLDKLDFENLPGLSAEDFVTLCIIHRYLDFKIGEIWTEVSEEIKLEKLRLVTVDEKSLHSIIAATENIGKMVASLQSEMIENQALQDVQNEQRVYAKIQATHKQRDQAHKSWENFLARTSNAKTLKKAKRLQEKAIESSRYSKRPQNAIFHQTVIKGLNTTVTSGQVVTVESTPTRLLGGPLADTDIALKKLPIRGGALQKVKVKPLDGLKKTVPI", "length": 869 }, "evidence": [ { "id": "A5D8W1", "url": "https://omabrowser.org/oma/group/A5D8W1/", "database": "OMA" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q8BH53-1", "protein_name": "Cilia- and flagella-associated protein 69", "gene_name": "Cfap69", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MSTAEASATTADAAEAGGRTKTGSPRTIPVFGVAIPDGEMQGIFKPMDLNRIIKVLEEEDKDVSEEKQLNYIKKLIHCYQNGFPLRDLAQIFKILSLCAEKIEKQPCFVEPASDIIKLCGLPFLKKKVSDEITYTEDTANSFALLGELMKIPSSALRIQICKCIVDFYHAEPLKKHIPGYQQVSSSYKIKMVEVGGLAKAMVQSALLLENQLVEKLWVLKVLQHLSTSGVNCTLMVKAQAASGICAHLNDPDPSGQLLFRSSEVLWNLLEKSSKEEIIQQLSNLECLLALKEVFKNLFVRGHSHYERQLRNDILVITTIIAQNPGAPMIECGFTRDLILFATFNEVKSQNPLVKSLKLFNCYEDFELKKLLFNIIVILCKDLATVQLLIDGKVILALFTYVKKPERLKIMEWSAAQYEELQLHAIATLSSVAPLLIEEYMSCHGNSRILAFLEWCGHEDSYFIHGNSFHGTGGRGNKFAQMRYTLRLLRAMVYLEDETVNKDLCERGVIHQLIEIFKTMMSRPAEKEEAIALEIQSDTLLILSGLCENYIQRKEMFGTEGVDIVLHVMKTDPKNLQRGLGYNVLLFSTLDSIWCCILGCYDSEDYFLEKEGIFLLLDILALNQKKFCNLILGIMVEFCDNPKTSAHVNAWRGKKDLTAASLLIKLWRKEEKELGVKRDRNGKIVDTKRPLFTSFQEEQKTMPLPANCPSIAVMDVAENIRAKIYAVLDKLDFENLPGLSAEDFVTLCIIHRYFDFKIGEIWNEVSEEIKLEKLRLVTTDEKSLNSIIAATENIGKMVASLQSEMIENQALQDVQNEQRVYAKIQATHKQREQANKSWENFLARTSNAKTLKKAKKLQEKAIESSRYTERPQNATFHQTVIKGLNTTVPSGRVVTVQSTPTRLLGGPLADTDIALKKLPIRGGALQRVKVKPPLNDPKKSIPT", "length": 942 }, "evidence": [ { "id": "45933333", "url": "http://www.informatics.jax.org/homology/45933333", "database": "MGI" }, { "id": "A5D8W1", "url": "https://omabrowser.org/oma/group/A5D8W1/", "database": "OMA" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Biological Process", "total": 7, "go_terms": [ { "name": "olfactory behavior", "id": "GO:0042048", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042048", "evidence": [ { "database": "UniProtKB", "id": "A5D8W1", "url": "https://www.uniprot.org/uniprot/A5D8W1" } ], "pmid": "" }, { "name": "flagellated sperm motility", "id": "GO:0030317", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030317", "evidence": [ { "database": "UniProtKB", "id": "A5D8W1", "url": "https://www.uniprot.org/uniprot/A5D8W1" } ], "pmid": "" }, { "name": "sensory perception of smell", "id": "GO:0007608", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007608", "evidence": [ { "database": "UniProtKB", "id": "A5D8W1", "url": "https://www.uniprot.org/uniprot/A5D8W1" } ], "pmid": "" }, { "name": "sperm axoneme assembly", "id": "GO:0007288", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007288", "evidence": [ { "database": "UniProtKB", "id": "A5D8W1", "url": "https://www.uniprot.org/uniprot/A5D8W1" } ], "pmid": "" }, { "name": "response to odorant", "id": "GO:1990834", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990834", "evidence": [ { "database": "UniProtKB", "id": "A5D8W1", "url": "https://www.uniprot.org/uniprot/A5D8W1" } ], "pmid": "" }, { "name": "positive regulation of fertilization", "id": "GO:1905516", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905516", "evidence": [ { "database": "UniProtKB", "id": "A5D8W1", "url": "https://www.uniprot.org/uniprot/A5D8W1" } ], "pmid": "" }, { "name": "positive regulation of flagellated sperm motility", "id": "GO:1902093", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902093", "evidence": [ { "database": "UniProtKB", "id": "A5D8W1", "url": "https://www.uniprot.org/uniprot/A5D8W1" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 3, "go_terms": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "A5D8W1", "url": "https://www.uniprot.org/uniprot/A5D8W1" } ], "pmid": "" }, { "name": "non-motile cilium", "id": "GO:0097730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097730", "evidence": [ { "database": "UniProtKB", "id": "A5D8W1", "url": "https://www.uniprot.org/uniprot/A5D8W1" } ], "pmid": "" }, { "name": "sperm midpiece", "id": "GO:0097225", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097225", "evidence": [ { "database": "UniProtKB", "id": "A5D8W1", "url": "https://www.uniprot.org/uniprot/A5D8W1" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 19, "end_pos": 21, "annotation": "n_glycosylation_sequon" }, { "start_pos": 230, "end_pos": 232, "annotation": "n_glycosylation_sequon" }, { "start_pos": 833, "end_pos": 835, "annotation": 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