{ "uniprot_canonical_ac": "Q9BYV8-1", "uniprot_ac": "Q9BYV8", "uniprot_id": "CEP41_HUMAN", "mass": { "chemical_mass": 41368.0, "monoisotopic_mass": 41368.0 }, "refseq": { "ac": "NP_001244087", "name": "centrosomal protein of 41 kDa isoform 2", "summary": "This gene encodes a centrosomal and microtubule-binding protein which is predicted to have two coiled-coil domains and a rhodanese domain. In human retinal pigment epithelial cells the protein localized to centrioles and cilia. Mutations in this gene have been associated with Joubert Syndrome 15; an autosomal recessive ciliopathy and neurological disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001244087" }, "gene_names": [ { "name": "CEP41", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/Q9BYV8", "id": "Q9BYV8" }, { "name": "CEP41", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001244087", "id": "NP_001244087" }, { "name": "JBTS15; TSGA14", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001244087", "id": "NP_001244087" }, { "name": "TSGA14", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q9BYV8", "id": "Q9BYV8" } ], "protein_names": [ { "name": "Centrosomal protein of 41 kDa", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "Q9BYV8" }, { "name": "Cep41", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q9BYV8" }, { "name": "Testis-specific gene A14 protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q9BYV8" }, { "name": "centrosomal protein 41 kDa; centrosomal protein of 41 kDa; testis specific protein A14; testis-specific gene A14 protein; testis specific, 14; centrosomal protein 41kDa", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001244087", "id": "NP_001244087" }, { "name": "centrosomal protein of 41 kDa isoform 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001244087", "id": "NP_001244087" } ], "function": [ { "annotation": "CEP41-mediated ciliary tubulin glutamylation drives angiogenesis through AURKA-dependent deciliation.", "evidence": [ { "database": "RefSeq", "id": "NP_001244087", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001244087" }, { "database": "PubMed", "id": "31885126", "url": "https://glygen.org/publication/PubMed/31885126" } ] }, { "annotation": "In cortices, the MEST promoter was hemimethylated, as expected for a differentially methylated imprinting control region, whereas the COPG2 and TSGA14 promoters were completely demethylated, typical for transcriptionally active non-imprinted genes.", "evidence": [ { "database": "RefSeq", "id": "NP_001244087", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001244087" }, { "database": "PubMed", "id": "22456293", "url": "https://glygen.org/publication/PubMed/22456293" } ] }, { "annotation": "Missense variants in one gene, CEP41, associated significantly with Autism Spectrum Disorder (ASD). Homozygous gene-disrupting variants in CEP41 were initially found to be responsible for recessive Joubert syndrome. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001244087", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001244087" }, { "database": "PubMed", "id": "30664616", "url": "https://glygen.org/publication/PubMed/30664616" } ] }, { "annotation": "Required during ciliogenesis for tubulin glutamylation in cilium. Probably acts by participating in the transport of TTLL6, a tubulin polyglutamylase, between the basal body and the cilium.", "evidence": [ { "database": "UniProtKB", "id": "Q9BYV8", "url": "https://www.uniprot.org/uniprot/Q9BYV8#function" }, { "database": "PubMed", "id": "22246503", "url": "https://glygen.org/publication/PubMed/22246503" } ] }, { "annotation": "The data identified CEP41 mutations as a cause of Joubert syndrome and implicated tubulin post-translational modification in the pathogenesis of human ciliary dysfunction. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001244087", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001244087" }, { "database": "PubMed", "id": "22246503", "url": "https://glygen.org/publication/PubMed/22246503" } ] }, { "annotation": "This gene encodes a centrosomal and microtubule-binding protein which is predicted to have two coiled-coil domains and a rhodanese domain. In human retinal pigment epithelial cells the protein localized to centrioles and cilia. Mutations in this gene have been associated with Joubert Syndrome 15; an autosomal recessive ciliopathy and neurological disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012].", "evidence": [ { "database": "RefSeq", "id": "NP_001244087", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001244087" } ] } ], "disease": [ { "disease_id": "DOID:0110984", "recommended_name": { "id": "DOID:0110984", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110984", "name": "Joubert syndrome 15", "description": "A Joubert syndrome characterized by ataxia, hypotonia, delayed psychomotor development, and variable mental retardation that has_material_basis_in homozygous mutation in the CEP41 gene on chromosome 7q32." }, "synonyms": [ { "id": "DOID:0110984", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110984", "name": "JBTS15", "description": "" }, { "id": "MONDO:0013763", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013763", "name": "Joubert syndrome 15", "description": "Any Joubert syndrome in which the cause of the disease is a mutation in the CEP41 gene." }, { "id": "MONDO:0013763", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013763", "name": "CEP41 Joubert syndrome", "description": "" }, { "id": "MONDO:0013763", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013763", "name": "JBTS15", "description": "" }, { "id": "MONDO:0013763", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013763", "name": "Joubert syndrome 15", "description": "" }, { "id": "MONDO:0013763", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013763", "name": "Joubert syndrome caused by mutation in CEP41", "description": "" }, { "id": "MONDO:0013763", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013763", "name": "Joubert syndrome type 15", "description": "" }, { "id": "MONDO:0013763", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013763", "name": "Joubert syndrome 12/15, digenic", "description": "" }, { "id": "MONDO:0013763", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013763", "name": "Joubert syndrome 9/15, digenic", "description": "" }, { "id": "MIM:614464", "resource": "MIM", "url": "https://www.omim.org/entry/614464", "name": "Joubert syndrome 15", "description": "Joubert syndrome 15" } ], "evidence": [ { "id": "614464", "database": "MIM", "url": "https://www.omim.org/entry/614464" } ] } ], "snv": [ { "evidence": [ { "id": "Q9BYV8", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/Q9BYV8" }, { "id": "rs782784827", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs782784827" }, { "id": "rs782784827", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs782784827" }, { "id": "rs782784827", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs782784827" }, { "id": "rs782784827", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs782784827#frequency_tab" }, { "id": "rs782784827", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs782784827" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 129, "end_pos": 129, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (NNA->NNT).", "chr_id": "7", "chr_pos": "130404601", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A129", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ], "keywords": [ "biomuta", 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syndrome 9/15, digenic", "description": "" }, { "id": "MIM:614464", "resource": "MIM", "url": "https://www.omim.org/entry/614464", "name": "Joubert syndrome 15", "description": "Joubert syndrome 15" } ] } ] }, { "evidence": [ { "id": "rs1164943584", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1164943584" }, { "id": "rs1164943584", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1164943584#frequency_tab" }, { "id": "rs1164943584", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1164943584" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 38, "end_pos": 38, "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (KYT->NYT).", "chr_id": "7", "chr_pos": "130412224", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K38", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "73.31", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000106477", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000106477" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "53.65", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000106477", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000106477" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "76.24", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000106477", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000106477" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": 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"present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000106477", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000106477" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "69.2", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000106477", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000106477" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "73.72", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000106477", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000106477" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "75.1", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000106477", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000106477" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "Q9BYV8", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q9BYV8" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "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, 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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": "Yes", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "Q9BYV8", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q9BYV8" } ], "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", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", 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"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", 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{ "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": "Yes", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "Q9BYV8", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q9BYV8" } ], "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", 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"name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BYV8", "url": "https://www.uniprot.org/uniprot/Q9BYV8" } ], "common_name": "Human" } ], "gene": [ { "name": "CEP41", "url": "https://www.uniprot.org/uniprot/Q9BYV8", "locus": { "chromosome": "7", "start_pos": 130393771, "end_pos": 130442433, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000106477", "url": "https://www.ensembl.org/id/ENSG00000106477" } ] } } ], "crossref": [ { "id": "ENSG00000106477", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000106477", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "Q9BYV8", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/Q9BYV8", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "cd00158", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd00158", "database": "CDD", 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"UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PHU1", "url": "https://www.uniprot.org/uniprot/A0A6Q8PHU1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PHU1-1", "url": "https://www.uniprot.org/uniprot/A0A6Q8PHU1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7I2PK71", "url": "https://www.uniprot.org/uniprot/A0A7I2PK71", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7I2PK71-1", "url": "https://www.uniprot.org/uniprot/A0A7I2PK71-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7I2SYM4", "url": "https://www.uniprot.org/uniprot/A0A7I2SYM4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7I2SYM4-1", "url": "https://www.uniprot.org/uniprot/A0A7I2SYM4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9IZ34", "url": "https://www.uniprot.org/uniprot/C9IZ34", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9IZ34-1", "url": "https://www.uniprot.org/uniprot/C9IZ34-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9J6R3", "url": "https://www.uniprot.org/uniprot/C9J6R3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9J6R3-1", "url": "https://www.uniprot.org/uniprot/C9J6R3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JCX6", "url": "https://www.uniprot.org/uniprot/C9JCX6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JCX6-1", "url": "https://www.uniprot.org/uniprot/C9JCX6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JXA0", "url": "https://www.uniprot.org/uniprot/C9JXA0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JXA0-1", "url": "https://www.uniprot.org/uniprot/C9JXA0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8WAV3", "url": "https://www.uniprot.org/uniprot/F8WAV3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8WAV3-1", "url": "https://www.uniprot.org/uniprot/F8WAV3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q9BYV8", "url": "https://www.uniprot.org/uniprot/Q9BYV8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q9BYV8-1", "url": "https://www.uniprot.org/uniprot/Q9BYV8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q9BYV8-2", "url": "https://www.uniprot.org/uniprot/Q9BYV8-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q9BYV8-4", "url": "https://www.uniprot.org/uniprot/Q9BYV8-4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q9BYV8-5", "url": "https://www.uniprot.org/uniprot/Q9BYV8-5", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MSLRRHIGNPEYLMKRIPQNPRYQHIKSRLDTGNSMTKYTEKLEEIKKNYRYKKDELFKRLKVTTFAQLIIQVASLSDQTLEVTAEEIQRLEDNDSAASDPDAETTARTNGKGNPGEQSPSPEQFINNAGAGDSSRSTLQSVISGVGELDLDKGPVKKAEPHTKDKPYPDCPFLLLDVRDRDSYQQCHIVGAYSYPIATLSRTMNPYSNDILEYKNAHGKIIILYDDDERLASQAATTMCERGFENLFMLSGGLKVLAQKFPEGLITGSLPASCQQALPPGSARKRSSPKGPPLPAENKWRFTPEDLKKIEYYLEEEQGPADHPSRLNQANSSGRESKVPGARSAQNLPGGGPASHSNPRSLSSGHLQGKPWK", "length": 373, "header": "sp|Q9BYV8-1|CEP41_HUMAN Isoform 1 of Centrosomal protein of 41 kDa OS=Homo sapiens OX=9606 GN=CEP41 PE=1 SV=1 CANONICAL=Q9BYV8-1" }, "isoforms": [ { "isoform_ac": "A0A6Q8PEV5-1", "url": "", "sequence": { "sequence": "MSLRRHIGNPEYLMKRIPQNPRYQHIKSRLDTDYRYKKDELFKRLKVTTFAQLIIQVASLSDQTLEVTAEEIQRLEDNDSAASDPDAETTARTNGKGNPGEQSPSPEQFINNAGAGDSSRSTLQSVISGVGELDLDKGPVKKAEPHTKDKPYPDCPFLLLDVRDRDSYQQCHIVGAYSYPIATLSRTMNPYSNDILEYKNAHGKIIILYDDDERLASQAATTMCERGFENLFMLSGGLKVLAQKFPEGLITGSLPASCQQALPPGSARKRSSPKGPPLPAENKWRFTPEDLKKIEYYLEEEQGPADHPSRLNQANSSGRESKVPGARSAQNLPGGGPASHSNPRSLSSGHLQGKPWK", "length": 357, "header": "tr|A0A6Q8PEV5-1|CEP41_HUMAN Computationally mapped isoform of Centrosomal protein of 41 kDa OS=Homo sapiens OX=9606 GN=CEP41 PE=1 SV=1 CANONICAL=Q9BYV8-1" }, "locus": { "chromosome": "7", "start_pos": 130440966, "end_pos": 130398894, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000675168.1", "url": "https://www.ensembl.org/id/ENST00000675168.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000501563.1", "url": "https://www.ensembl.org/id/ENSP00000501563.1" } ] } }, { "isoform_ac": "A0A6Q8PF12-1", "url": "", "sequence": { "sequence": "MVSMTTGLGPSHPPILHKTYCSFSHKYLMKRIPQNPRYQHIKSRLDTGNSMTKYTEKLEEIKKNYRYKKDELFKRLKVTTFAQLIIQVASLSDQTLEVTAEEIQRLEDNDSAASDPDAETTARTNGKGNPGEQSPSPEQFINNAGAGDSSRSTLQSVISGVGELDLDKGPVKKAEPHTKDKPYPDCPFLLLDVRDRDSYQQCHIVGAYSYPIATLSRTMNPYSNDILEYKNAHGKIIILYDDDERLASQAATTMCERGFENLFMLSGGLKVLAQKFPEGLITGSLPASCQQALPPGSARKRSSPKGPPLPAENKWRFTPEDLKKIEYYLEEEQGPADHPSRLNQANSSGRESKVPGARSAQNLPGGGPASHSNPRSLSSGHLQGKPWK", "length": 388, "header": "tr|A0A6Q8PF12-1|CEP41_HUMAN Computationally mapped isoform of Centrosomal protein of 41 kDa OS=Homo sapiens OX=9606 GN=CEP41 PE=1 SV=1 CANONICAL=Q9BYV8-1" }, "locus": { "chromosome": "7", "start_pos": 130441735, "end_pos": 130398894, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000675138.1", "url": "https://www.ensembl.org/id/ENST00000675138.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000501597.1", "url": "https://www.ensembl.org/id/ENSP00000501597.1" } ] } }, { "isoform_ac": "A0A6Q8PFB1-1", "url": "", "sequence": { "sequence": "MSLRRHIGNPEYLMKRIPQNPRYQHIKSRLDTGNSMTKYTEKLEEIKKNYRYKKDELFKRLKVTTFAQLIIQVASLSDQTLEVTAEEIQRLEDNDSAASDPDAETTARTNGKGNPGEQSPSPEQFINNAGAGDSSRSTLQSVISGVGELDLDKGPVKKAEPHTKDKPYPDCPFLLLDVRDRDSYQQCHIVGAYSYPIATLSRTMNPYSNDILEYKNAHGKIIILYDDDERLASQAATTMCERGFENLFMLSGGEQGLKVLAQKFPEGLITGSLPASCQQALPPGSARKRSSPKGPPLPAENKWRFTPEDLKKIEYYLEEEQGPADHPSRLNQANSSGRESKVPGARSAQNLPGGGPASHSNPRSLSSGHLQGKPWK", "length": 376, "header": "tr|A0A6Q8PFB1-1|A0A6Q8PFB1_HUMAN Computationally mapped isoform of Centrosomal protein 41 OS=Homo sapiens OX=9606 GN=CEP41 PE=1 SV=1 CANONICAL=Q9BYV8-1" }, "locus": { "chromosome": "7", "start_pos": 130440966, "end_pos": 130398894, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000676243.1", "url": "https://www.ensembl.org/id/ENST00000676243.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000501717.1", "url": "https://www.ensembl.org/id/ENSP00000501717.1" } ] } }, { "isoform_ac": "A0A6Q8PFB5-1", "url": "", "sequence": { "sequence": "MSLRRHIGNPEYLMKRIPQNPRYQHIKSRLDTGNSMTKYTEKLEEIKKNYRYKKDELFKRLKVTTFAQLIIQVASLSDQTLEVTAEEIQRLEDNDSAASDPDAETTARTNGKGNPGEQSPSPEQFINNAGAGDSSRSTLQSGVGELDLDKGPVKKAEPHTKDKPYPDCPFLLLDVRDRDSYQQCHIVGAYSYPIATLSRTMNPYSNDILEYKNAHGKIIILYDDDERLASQAATTMCERGFENLFMLSGGLKVLAQKFPEGLITGSLPASCQQALPPGSARKRSSPKGPPLPAENKWRFTPEDLKKIEYYLEEEQGPADHPSRLNQANSSGRESKVPGARSAQNLPGGGPASHSNPRSLSSGHLQGKPWK", "length": 370, "header": "tr|A0A6Q8PFB5-1|A0A6Q8PFB5_HUMAN Computationally mapped isoform of Centrosomal protein 41 OS=Homo sapiens OX=9606 GN=CEP41 PE=1 SV=1 CANONICAL=Q9BYV8-1" }, "locus": { "chromosome": "7", "start_pos": 130440966, "end_pos": 130398894, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000675935.1", "url": "https://www.ensembl.org/id/ENST00000675935.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000501731.1", "url": "https://www.ensembl.org/id/ENSP00000501731.1" } ] } }, { "isoform_ac": "A0A6Q8PFZ2-1", "url": "", "sequence": { "sequence": "MSLRRHIGNPEYLMKRIPQNPRYQHIKSRLDTVKEFRFKRRQTDLNE", "length": 47, "header": "tr|A0A6Q8PFZ2-1|CEP41_HUMAN Computationally mapped isoform of Centrosomal protein of 41 kDa OS=Homo sapiens OX=9606 GN=CEP41 PE=1 SV=1 CANONICAL=Q9BYV8-1" }, "locus": { "chromosome": "7", "start_pos": 130440966, "end_pos": 130427439, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000675721.1", "url": "https://www.ensembl.org/id/ENST00000675721.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000502026.1", "url": "https://www.ensembl.org/id/ENSP00000502026.1" } ] } }, { "isoform_ac": "A0A6Q8PG60-1", "url": "", "sequence": { "sequence": "MSLRRHIGNPEYLMKRIPQNPRYQHIKSRLDTGNSMTKYTEKLEEIKKNYRYKKDELFKRLKVTTFAQLIIQVASLSDQTLEVTAEEIQRLEDNDSAASDPDAETTARTNGKGNPGEQSPSPEQFINNAGAGDSSRSTLQSVISGVGELDLDKGPVKKAEPHTKDKPYPDCPFLLLDVRDRDSYQQCHIVGAYSYPIATLSRTMNPYSNDILEYKNAHGKIIILYDDDERLASQAATTMCERGFENLFMLSGGEQGDTLLGTSKADHPSVPPASPFLSWCSEFSVLEREKAMLAERSQELCETSLSFISTCF", "length": 312, "header": "tr|A0A6Q8PG60-1|CEP41_HUMAN Computationally mapped isoform of Centrosomal protein of 41 kDa OS=Homo sapiens OX=9606 GN=CEP41 PE=1 SV=1 CANONICAL=Q9BYV8-1" }, "locus": { "chromosome": "7", "start_pos": 130440966, "end_pos": 130400528, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000480206.2", "url": "https://www.ensembl.org/id/ENST00000480206.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000502099.1", "url": "https://www.ensembl.org/id/ENSP00000502099.1" } ] } }, { "isoform_ac": "A0A6Q8PGR4-1", "url": "", "sequence": { "sequence": "MSLRRHIGNPEYLMKRIPQNPRYQHIKSRLDTGNSMTKYTEKLEEIKKNYRYKKDELFKRLKVTTFAQLIIQVASLSDQTLEVTAEEIQRLEDNDSAASDPDAETTARTNGKGNPGEQSPSPEQFINNAGAGDSSRSTLQSVISGVGELDLDKGPVKKAEPHTKDKPYPDCPFLLLDVRDRDSYQQCHIVGGLKVLAQKFPEGLITGSLPASCQQALPPGSARKRSSPKGPPLPAENKWRFTPEDLKKIEYYLEEEQGPADHPSRLNQANSSGRESKVPGARSAQNLPGGGPASHSNPRSLSSGHLQGKPWK", "length": 312, "header": "tr|A0A6Q8PGR4-1|CEP41_HUMAN Computationally mapped isoform of Centrosomal protein of 41 kDa OS=Homo sapiens OX=9606 GN=CEP41 PE=1 SV=1 CANONICAL=Q9BYV8-1" }, "locus": { "chromosome": "7", "start_pos": 130440966, "end_pos": 130398894, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000675649.1", "url": "https://www.ensembl.org/id/ENST00000675649.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000502385.1", "url": "https://www.ensembl.org/id/ENSP00000502385.1" } ] } }, { "isoform_ac": "A0A6Q8PGX0-1", "url": "", "sequence": { "sequence": "MNPYSNDILEYKNAHGKIIILYDDDERLASQAATTMCERGFENLFMLSGGLKVLAQKFPEGLITGSLPASCQQALPPGSARKRSSPKGPPLPAENKWRFTPEDLKKIEYYLEEEQGPADHPSRLNQANSSGRESKVPGARSAQNLPGGGPASHSNPRSLSSGHLQGKPWK", "length": 170, "header": "tr|A0A6Q8PGX0-1|A0A6Q8PGX0_HUMAN Computationally mapped isoform of Centrosomal protein 41 OS=Homo sapiens OX=9606 GN=CEP41 PE=1 SV=1 CANONICAL=Q9BYV8-1" }, "locus": { "chromosome": "7", "start_pos": 130401913, "end_pos": 130398894, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000675563.1", "url": "https://www.ensembl.org/id/ENST00000675563.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000502483.1", "url": "https://www.ensembl.org/id/ENSP00000502483.1" } ] } }, { "isoform_ac": "A0A6Q8PH03-1", "url": "", "sequence": { "sequence": "MKRIPQNPRYQHIKSRLDTGNSMTKYTEKLEEIKKNYRYKKDELFKRLKVTTFAQLIIQVASLSDQTLEVTAEEIQRLEDNDSAASDPDAETTARTNGKGNPGEQSPSPEQFINNAGAGDSSRSTLQSVISGVGELDLDKGPVKKAEPHTKDKPYPDCPFLLLDVRDRDSYQQCHIVGAYSYPIATLSRTMNPYSNDILEYKNAHGKIIILYDDDERLASQAATTMCERGFENLFMLSGGLKVLAQKFPEGLITGSLPASCQQALPPGSARKRSSPKGPPLPAENKWRFTPEDLKKIEYYLEEEQGPADHPSRLNQANSSGRESKVPGARSAQNLPGGGPASHSNPRSLSSGHLQGKPWK", "length": 360, "header": "tr|A0A6Q8PH03-1|A0A6Q8PH03_HUMAN Computationally mapped isoform of Centrosomal protein 41 OS=Homo sapiens OX=9606 GN=CEP41 PE=1 SV=1 CANONICAL=Q9BYV8-1" }, "locus": { "chromosome": "7", "start_pos": 130428012, "end_pos": 130398894, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000676312.1", "url": "https://www.ensembl.org/id/ENST00000676312.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000502312.1", "url": "https://www.ensembl.org/id/ENSP00000502312.1" } ] } }, { "isoform_ac": "A0A6Q8PH12-1", "url": "", "sequence": { "sequence": "MSLRRHIGNPEYLMKRIPQNPRYQHIKSRLDTGNSMTKYTEKLEEIKKNYRYKKDELFKRLKVTTFAQLIIQVASLSDQTLEVTAEEIQRLEDNDSAASDPDAETTARTNGKGNPVSSVVLGNWI", "length": 125, "header": "tr|A0A6Q8PH12-1|CEP41_HUMAN Computationally mapped isoform of Centrosomal protein of 41 kDa OS=Homo sapiens OX=9606 GN=CEP41 PE=1 SV=1 CANONICAL=Q9BYV8-1" }, "locus": { "chromosome": "7", "start_pos": 130440966, "end_pos": 130402771, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000674630.1", "url": "https://www.ensembl.org/id/ENST00000674630.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000502521.1", "url": "https://www.ensembl.org/id/ENSP00000502521.1" } ] } }, { "isoform_ac": "A0A6Q8PH93-1", "url": "", "sequence": { "sequence": "MSLRRHIGNPEYLMKRIPQNPRYQHIKSRLDTGRTVPVFPPSLVSSATKTLSSFISTHLTPNCNCDPPF", "length": 69, "header": "tr|A0A6Q8PH93-1|CEP41_HUMAN Computationally mapped isoform of Centrosomal protein of 41 kDa OS=Homo sapiens OX=9606 GN=CEP41 PE=1 SV=1 CANONICAL=Q9BYV8-1" }, "locus": { "chromosome": "7", "start_pos": 130440966, "end_pos": 130426650, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000334451.6", "url": "https://www.ensembl.org/id/ENST00000334451.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000501587.1", "url": "https://www.ensembl.org/id/ENSP00000501587.1" } ] } }, { "isoform_ac": "A0A6Q8PHU1-1", "url": "", "sequence": { "sequence": "MSLRRHIGNPEYLMKRIPQNPRYQHIKSRLDTGNSMTKYTEKLEEIKKNYRYKKDELFKRLKVTTFAQLIIQVASLSDQTLEVTAEEIQRLEDNDSAASDPDAETTARTNGKGNPGEQSPSPEQFINNAGAGDSSRSTLQRPTEPS", "length": 146, "header": "tr|A0A6Q8PHU1-1|CEP41_HUMAN Computationally mapped isoform of Centrosomal protein of 41 kDa OS=Homo sapiens OX=9606 GN=CEP41 PE=1 SV=1 CANONICAL=Q9BYV8-1" }, "locus": { "chromosome": "7", "start_pos": 130440966, "end_pos": 130399024, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000674539.1", "url": "https://www.ensembl.org/id/ENST00000674539.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000502834.1", "url": "https://www.ensembl.org/id/ENSP00000502834.1" } ] } }, { "isoform_ac": "A0A7I2PK71-1", "url": "", "sequence": { "sequence": "MSLRRHIGNPEYLMKRIPQNPRYQHIKSRLDTGNSMTKYTEKLEEIKKNYRYKKDELFKRLKVTTFAQLIIQVASLSDQTLEVTAEEIQRLEDNDSAASDPDAETTARTNGKGNPGEQSPSPEQFINNAGAGDSSRSTLQSVISGVGELDLDKGPVKKAEPHTKDKPYPDCPFLLLDVRDRDSYQQCHIVGAYSYPIATLSRTMNPYSNDILEYKNAHGKIIILYDDDERLASQAATTMCERGFENLFMLSGGEQGRLNQANSSGRESKVPGARSAQNLPGGGPASHSNPRSLSSGHLQGKPWK", "length": 304, "header": "tr|A0A7I2PK71-1|CEP41_HUMAN Computationally mapped isoform of Centrosomal protein of 41 kDa OS=Homo sapiens OX=9606 GN=CEP41 PE=1 SV=1 CANONICAL=Q9BYV8-1" }, "locus": { "chromosome": "7", "start_pos": 130440966, "end_pos": 130398894, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000343969.10", "url": "https://www.ensembl.org/id/ENST00000343969.10" }, { "database": "Ensembl Peptide", "id": "ENSP00000342738.6", "url": "https://www.ensembl.org/id/ENSP00000342738.6" } ] } }, { "isoform_ac": "A0A7I2SYM4-1", "url": "", "sequence": { "sequence": "MVTHKVHQYLMKRIPQNPRYQHIKSRLDTGNSMTKYTEKLEEIKKNYRYKKDELFKRLKVTTFAQLIIQVASLSDQTLEVTAEEIQRLEDNDSAASDPDAETTARTNGKGNPGEQSPSPEQFINNAGAGDSSRSTLQSVISGVGELDLDKGPVKKAEPHTKDKPYPDCPFLLLDVRDRDSYQQCHIVGAYSYPIATLSRTMNPYSNDILEYKNAHGKIIILYDDDERLASQAATTMCERGFENLFMLSGGLKVLAQKFPEGLITGSLPASCQQALPPGSARKRSSPKGPPLPAENKWRFTPEDLKKIEYYLEEEQGPADHPSRLNQANSSGRESKVPGARSAQNLPGGGPASHSNPRSLSSGHLQGKPWK", "length": 370, "header": "tr|A0A7I2SYM4-1|CEP41_HUMAN Computationally mapped isoform of Centrosomal protein of 41 kDa OS=Homo sapiens OX=9606 GN=CEP41 PE=1 SV=1 CANONICAL=Q9BYV8-1" }, "locus": { "chromosome": "7", "start_pos": 130442420, "end_pos": 130398894, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000541543.6", "url": "https://www.ensembl.org/id/ENST00000541543.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000445888.2", "url": "https://www.ensembl.org/id/ENSP00000445888.2" } ] } }, { "isoform_ac": "C9IZ34-1", "url": "", "sequence": { "sequence": "MSLRRHIGNPEVRARSRPESRRGRAHRKRLMWAGKSSQRLPPPGRREGAGVRRGRDAGAGRAGLGGRGAAFRTPF", "length": 75, "header": "tr|C9IZ34-1|CEP41_HUMAN Computationally mapped isoform of Centrosomal protein of 41 kDa OS=Homo sapiens OX=9606 GN=CEP41 PE=1 SV=2 CANONICAL=Q9BYV8-1" }, "locus": { "chromosome": "7", "start_pos": 130440966, "end_pos": 130440742, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000469826.2", "url": "https://www.ensembl.org/id/ENST00000469826.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000418712.2", "url": "https://www.ensembl.org/id/ENSP00000418712.2" } ] } }, { "isoform_ac": "C9J6R3-1", "url": "", "sequence": { "sequence": "MTKYTEKLEEIKKNYRYKKDELFKRLKVTTFAQLIIQVASLSDQTLEVTAEEIQRLEDNDSAASDPDAETTARTNGKGNPGEQSPSPEQFINNAGAGDSSRSTLQSVISGVGELDLDKGPVKKAEPHTKDKPYPDCPFLLLDVRDRDSYQQCHIVGAYSYPIATLSRTMNPYSNDILEYKNAHGKIIILYDDDERLASQAATTMCERGFENLFMLSG", "length": 217, "header": "tr|C9J6R3-1|CEP41_HUMAN Computationally mapped isoform of Centrosomal protein of 41 kDa OS=Homo sapiens OX=9606 GN=CEP41 PE=1 SV=9 CANONICAL=Q9BYV8-1" }, "locus": { "chromosome": "7", "start_pos": 130416958, "end_pos": 130400708, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000475282.6", "url": "https://www.ensembl.org/id/ENST00000475282.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000418363.2", "url": "https://www.ensembl.org/id/ENSP00000418363.2" } ] } }, { "isoform_ac": "C9JCX6-1", "url": "", "sequence": { "sequence": "MSLRRHIGNPEYLMKRIPQNPRYQHIKSRLDTGNSMTKYTEKLEEIKKNYRYKKDELFKRLKVTTFAQLIIQVASLSDQTLEVTAEEIQRLEDNDSAASDPDAETTARTNGKGNPGEQSPSPEQFINNAGAGDSSRSTLQSMCPSVPTPSAM", "length": 152, "header": "tr|C9JCX6-1|CEP41_HUMAN Computationally mapped isoform of Centrosomal protein of 41 kDa OS=Homo sapiens OX=9606 GN=CEP41 PE=1 SV=2 CANONICAL=Q9BYV8-1" }, "locus": { "chromosome": "7", "start_pos": 130440966, "end_pos": 130403058, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000477003.6", "url": "https://www.ensembl.org/id/ENST00000477003.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000420670.2", "url": "https://www.ensembl.org/id/ENSP00000420670.2" } ] } }, { "isoform_ac": "C9JXA0-1", "url": "", "sequence": { "sequence": "VFPPSLVSSATKTLSSFISTHLTPNCNCDPPF", "length": 32, "header": "tr|C9JXA0-1|CEP41_HUMAN Computationally mapped isoform of Centrosomal protein of 41 kDa OS=Homo sapiens OX=9606 GN=CEP41 PE=1 SV=2 CANONICAL=Q9BYV8-1" }, "locus": { "chromosome": "7", "start_pos": 130426745, "end_pos": 130426650, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000492389.6", "url": "https://www.ensembl.org/id/ENST00000492389.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000419192.2", "url": "https://www.ensembl.org/id/ENSP00000419192.2" } ] } }, { "isoform_ac": "F8WAV3-1", "url": "", "sequence": { "sequence": "MKSFLSPPVDEQSPLTFLPRALHVRAAHVAPACTLHVAQVFIWQYLMKRIPQNPRYQHIKSRLDTGNSMTKYTEKLEEIKKISLSPRLECGSAILAHCNLHLPGSIDSHASASGVVGITDYRYKKDELFKRLKVTTFAQLIIQVASLSDQTLEVTAEEIQRLEDNDSAASDPDAETTARTNGKGNPGEQSPSPEQFINNAGAGDSSRSTLQSVISGVGELDLDKGPVKKAEPHTKDKPYPDCPFLLLDVRDRDSYQQCHIVGAYSYPIATLSRTMNPYSNDILEYKNAHGKIIILYDDDERLASQAATTMCERGFENLFMLSG", "length": 323, "header": "tr|F8WAV3-1|CEP41_HUMAN Computationally mapped isoform of Centrosomal protein of 41 kDa OS=Homo sapiens OX=9606 GN=CEP41 PE=1 SV=2 CANONICAL=Q9BYV8-1" }, "locus": { "chromosome": "7", "start_pos": 130434000, "end_pos": 130400708, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000471201.6", "url": "https://www.ensembl.org/id/ENST00000471201.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000417463.2", "url": "https://www.ensembl.org/id/ENSP00000417463.2" } ] } }, { "isoform_ac": "Q9BYV8-1", "url": "", "sequence": { "sequence": "MSLRRHIGNPEYLMKRIPQNPRYQHIKSRLDTGNSMTKYTEKLEEIKKNYRYKKDELFKRLKVTTFAQLIIQVASLSDQTLEVTAEEIQRLEDNDSAASDPDAETTARTNGKGNPGEQSPSPEQFINNAGAGDSSRSTLQSVISGVGELDLDKGPVKKAEPHTKDKPYPDCPFLLLDVRDRDSYQQCHIVGAYSYPIATLSRTMNPYSNDILEYKNAHGKIIILYDDDERLASQAATTMCERGFENLFMLSGGLKVLAQKFPEGLITGSLPASCQQALPPGSARKRSSPKGPPLPAENKWRFTPEDLKKIEYYLEEEQGPADHPSRLNQANSSGRESKVPGARSAQNLPGGGPASHSNPRSLSSGHLQGKPWK", "length": 373, "header": "sp|Q9BYV8-1|CEP41_HUMAN Isoform 1 of Centrosomal protein of 41 kDa OS=Homo sapiens OX=9606 GN=CEP41 PE=1 SV=1 CANONICAL=Q9BYV8-1" }, "locus": { "chromosome": "7", "start_pos": 130440966, "end_pos": 130398894, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000223208.10", "url": "https://www.ensembl.org/id/ENST00000223208.10" }, { "database": "Ensembl Peptide", "id": "ENSP00000223208.4", "url": "https://www.ensembl.org/id/ENSP00000223208.4" } ] } }, { "isoform_ac": "Q9BYV8-2", "url": "", "sequence": { "sequence": "MSLRRHIGNPEYLMKRIPQNPRYQHIKSRLDTGNSMTKYTEKLEEIKKNYRYKKDELFKRLKVTTFAQLIIQVASLSDQTLEVTAEEIQRLEDNDSAASDPDAETTARTNGKGNPGEQSPSPEQFINNAGAGDSSRSTLQSVISGVGELDLDKGPVKKAEPHTKDKPYPDCPFLLLDVRDRDSYQQCHIVGAYSYPIATLSRTMNPYSNDILEYKNAHGKIIILYDDDERLASQAATTMCERGFENLFMLSGGRLNQANSSGRESKVPGARSAQNLPGGGPASHSNPRSLSSGHLQGKPWK", "length": 301, "header": "sp|Q9BYV8-2|CEP41_HUMAN Isoform 2 of Centrosomal protein of 41 kDa OS=Homo sapiens OX=9606 GN=CEP41 PE=1 SV=1 CANONICAL=Q9BYV8-1" }, "locus": { "chromosome": "7", "start_pos": 130440966, "end_pos": 130398894, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000675596.1", "url": "https://www.ensembl.org/id/ENST00000675596.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000501735.1", "url": "https://www.ensembl.org/id/ENSP00000501735.1" } ] } }, { "isoform_ac": "Q9BYV8-4", "url": "", "sequence": { "sequence": "MSLRRHIGNPEYLMKRIPQNPRYQHIKSRLDTGACVYLTSSPALPDCAMNGLCF", "length": 54, "header": "sp|Q9BYV8-4|CEP41_HUMAN Isoform 4 of Centrosomal protein of 41 kDa OS=Homo sapiens OX=9606 GN=CEP41 PE=1 SV=1 CANONICAL=Q9BYV8-1" }, "locus": { "chromosome": "7", "start_pos": 130440966, "end_pos": 130421943, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000489512.5", "url": "https://www.ensembl.org/id/ENST00000489512.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000417815.1", "url": "https://www.ensembl.org/id/ENSP00000417815.1" } ] } }, { "isoform_ac": "Q9BYV8-5", "url": "", "sequence": { "sequence": "MSLRRHIGNPEYLMKRIPQNPRYQHIKSRLDTDYRYKKDELFKRLKVTTFAQLIIQVASLSDQTLEVTAEEIQRLEDNDSAASDPDAETTARTNGKGNPGEQSPSPEQFINNAGAGDSSRSTLQSVISGVGELDLDKGPVKKAEPHTKDKPYPDCPFLLLDVRDRDSYQQCHIVGAYSYPIATLSRTMNPYSNDILEYKNAHGKIIILYDDDERLASQAATTMCERGFENLFMLSGGRLNQANSSGRESKVPGARSAQNLPGGGPASHSNPRSLSSGHLQGKPWK", "length": 285, "header": "sp|Q9BYV8-5|CEP41_HUMAN Isoform 5 of Centrosomal protein of 41 kDa OS=Homo sapiens OX=9606 GN=CEP41 PE=1 SV=1 CANONICAL=Q9BYV8-1" }, "locus": { "chromosome": "7", "start_pos": 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} ] }, { "title": "Phosphorylation of threonine 210 and the role of serine 137 in the regulation of mammalian polo-like kinase.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Jang YJ, Ma S, Terada Y, Erikson RL", "evidence": [ { "database": "Reactome", "id": "R-HSA-2565942", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2565942" } ], "reference": [ { "type": "PubMed", "id": "12207013", "url": "https://glygen.org/publication/PubMed/12207013" } ] }, { "title": "Centrosomal proteins CG-NAP and kendrin provide microtubule nucleation sites by anchoring gamma-tubulin ring complex.", "journal": "Molecular biology of the cell", "date": "2002", "authors": "Takahashi M, Yamagiwa A, Nishimura T, Mukai H, Ono Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-380270", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-380270" } ], "reference": [ { "type": "PubMed", "id": "12221128", "url": "https://glygen.org/publication/PubMed/12221128" } ] }, { "title": "Nuclear translocation of plk1 mediated by its bipartite nuclear localization signal.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Taniguchi E, Toyoshima-Morimoto F, Nishida E", "evidence": [ { "database": "Reactome", "id": "R-HSA-2565942", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2565942" } ], "reference": [ { "type": "PubMed", "id": "12364337", "url": "https://glygen.org/publication/PubMed/12364337" } ] }, { "title": "Polo-like kinase 1 regulates Nlp, a centrosome protein involved in microtubule nucleation.", "journal": "Developmental cell", "date": "2003", "authors": "Casenghi M, Meraldi P, Weinhart U, Duncan PI, Korner R, Nigg EA", "evidence": [ { "database": "Reactome", "id": "R-HSA-380259", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-380259" } ], "reference": [ { "type": "PubMed", "id": "12852856", "url": "https://glygen.org/publication/PubMed/12852856" } ] }, { "title": "Aurora-A and an interacting activator, the LIM protein Ajuba, are required for mitotic commitment in human cells.", "journal": "Cell", "date": "2003", "authors": "Hirota T, Kunitoku N, Sasayama T, Marumoto T, Zhang D, Nitta M, Hatakeyama K, Saya H", "evidence": [ { "database": "Reactome", "id": "R-HSA-2565942", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2565942" } ], "reference": [ { "type": "PubMed", "id": "13678582", "url": "https://glygen.org/publication/PubMed/13678582" } ] }, { "title": "Structural basis of Aurora-A activation by TPX2 at the mitotic spindle.", "journal": "Molecular cell", "date": "2003", "authors": "Bayliss R, Sardon T, Vernos I, Conti E", "evidence": [ { "database": "Reactome", "id": "R-HSA-8854518", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8854518" } ], "reference": [ { "type": "PubMed", "id": "14580337", "url": "https://glygen.org/publication/PubMed/14580337" } ] }, { "title": "Proteomic characterization of the human centrosome by protein correlation profiling.", "journal": "Nature", "date": "2003", "authors": "Mann M., Mortensen P., Nigg E.A., Andersen J.S., Mayor T., Wilkinson C.J.", "evidence": [ { "database": "UniProtKB", "id": "Q9BYV8", "url": "https://www.uniprot.org/uniprot/Q9BYV8" } ], "reference": [ { "type": "PubMed", "id": "14654843", "url": "https://glygen.org/publication/PubMed/14654843" } ] }, { "title": "XRHAMM functions in ran-dependent microtubule nucleation and pole formation during anastral spindle assembly.", "journal": "Current biology : CB", "date": "2004", "authors": "Groen AC, Cameron LA, Coughlin M, Miyamoto DT, Mitchison TJ, Ohi R", "evidence": [ { "database": "Reactome", "id": "R-HSA-8854518", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8854518" } ], "reference": [ { "type": "PubMed", "id": "15498487", "url": "https://glygen.org/publication/PubMed/15498487" } ] }, { "title": "Receptor for hyaluronan-mediated motility correlates with centrosome abnormalities in multiple myeloma and maintains mitotic integrity.", "journal": "Cancer research", "date": "2005", "authors": "Maxwell CA, Keats JJ, Belch AR, Pilarski LM, Reiman T", "evidence": [ { "database": "Reactome", "id": "R-HSA-8854518", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8854518" } ], "reference": [ { "type": "PubMed", "id": "15705883", "url": "https://glygen.org/publication/PubMed/15705883" } ] }, { "title": "Tectonic, a novel regulator of the Hedgehog pathway required for both activation and inhibition.", "journal": "Genes & development", "date": "2006", "authors": "Reiter JF, Skarnes WC", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620912", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620912" } ], "reference": [ { "type": "PubMed", "id": "16357211", "url": "https://glygen.org/publication/PubMed/16357211" } ] }, { "title": "The PITSLRE/CDK11p58 protein kinase promotes centrosome maturation and bipolar spindle formation.", "journal": "EMBO reports", "date": "2006", "authors": "Petretti C, Savoian M, Montembault E, Glover DM, Prigent C, Giet R", "evidence": [ { "database": "Reactome", "id": "R-HSA-380270", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-380270" } ], "reference": [ { "type": "PubMed", "id": "16462731", "url": "https://glygen.org/publication/PubMed/16462731" } ] }, { "title": "Mitotic activation of the kinase Aurora-A requires its binding partner Bora.", "journal": "Developmental cell", "date": "2006", "authors": "Hutterer A, Berdnik D, Wirtz-Peitz F, Zigman M, Schleiffer A, Knoblich JA", "evidence": [ { "database": "Reactome", "id": "R-HSA-2565942", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2565942" } ], "reference": [ { "type": "PubMed", "id": "16890155", "url": "https://glygen.org/publication/PubMed/16890155" } ] }, { "title": "A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis.", "journal": "Cell", "date": "2007", "authors": "Nachury MV, Loktev AV, Zhang Q, Westlake CJ, Peranen J, Merdes A, Slusarski DC, Scheller RH, Bazan JF, Sheffield VC, Jackson PK", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620912", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620912" } ], "reference": [ { "type": "PubMed", "id": "17574030", "url": "https://glygen.org/publication/PubMed/17574030" } ] }, { "title": "Functional dissection of Rab GTPases involved in primary cilium formation.", "journal": "The Journal of cell biology", "date": "2007", "authors": "Yoshimura S, Egerer J, Fuchs E, Haas AK, Barr FA", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620912", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620912" } ], "reference": [ { "type": "PubMed", "id": "17646400", "url": "https://glygen.org/publication/PubMed/17646400" } ] }, { "title": "Cep97 and CP110 suppress a cilia assembly program.", "journal": "Cell", "date": "2007", "authors": "Spektor A, Tsang WY, Khoo D, Dynlacht BD", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620912", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620912" } ], "reference": [ { "type": "PubMed", "id": "17719545", "url": "https://glygen.org/publication/PubMed/17719545" } ] }, { "title": "Mutations in TTBK2, encoding a kinase implicated in tau phosphorylation, segregate with spinocerebellar ataxia type 11.", "journal": "Nature genetics", "date": "2007", "authors": "Houlden H, Johnson J, Gardner-Thorpe C, Lashley T, Hernandez D, Worth P, Singleton AB, Hilton DA, Holton J, Revesz T, Davis MB, Giunti P, Wood NW", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620912", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620912" } ], "reference": [ { "type": "PubMed", "id": "18037885", "url": "https://glygen.org/publication/PubMed/18037885" } ] }, { "title": "Plk1- and beta-TrCP-dependent degradation of Bora controls mitotic progression.", "journal": "The Journal of cell biology", "date": "2008", "authors": "Seki A, Coppinger JA, Du H, Jang CY, Yates JR 3rd, Fang G", "evidence": [ { "database": "Reactome", "id": "R-HSA-2565942", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2565942" } ], "reference": [ { "type": "PubMed", "id": "18378770", "url": "https://glygen.org/publication/PubMed/18378770" } ] }, { "title": "Myosin phosphatase-targeting subunit 1 regulates mitosis by antagonizing polo-like kinase 1.", "journal": "Developmental cell", "date": "2008", "authors": "Yamashiro S, Yamakita Y, Totsukawa G, Goto H, Kaibuchi K, Ito M, Hartshorne DJ, Matsumura F", "evidence": [ { "database": "Reactome", "id": "R-HSA-2565942", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2565942" } ], "reference": [ { "type": "PubMed", "id": "18477460", "url": "https://glygen.org/publication/PubMed/18477460" } ] }, { "title": "Plk1 regulates mitotic Aurora A function through betaTrCP-dependent degradation of hBora.", "journal": "Chromosoma", "date": "2008", "authors": "Chan EH, Santamaria A, Sillje HH, Nigg EA", "evidence": [ { "database": "Reactome", "id": "R-HSA-2565942", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2565942" } ], "reference": [ { "type": "PubMed", "id": "18521620", "url": "https://glygen.org/publication/PubMed/18521620" } ] }, { "title": "Bora and the kinase Aurora a cooperatively activate the kinase Plk1 and control mitotic entry.", "journal": "Science (New York, N.Y.)", "date": "2008", "authors": "Seki A, Coppinger JA, Jang CY, Yates JR, Fang G", "evidence": [ { "database": "Reactome", "id": "R-HSA-2565942", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2565942" } ], "reference": [ { "type": "PubMed", "id": "18566290", "url": "https://glygen.org/publication/PubMed/18566290" } ] }, { "title": "Polo-like kinase-1 is activated by aurora A to promote checkpoint recovery.", "journal": "Nature", "date": "2008", "authors": "Macurek L, Lindqvist A, Lim D, Lampson MA, Klompmaker R, Freire R, Clouin C, Taylor SS, Yaffe MB, Medema RH", "evidence": [ { "database": "Reactome", "id": "R-HSA-2565942", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2565942" } ], "reference": [ { "type": "PubMed", "id": "18615013", "url": "https://glygen.org/publication/PubMed/18615013" } ] }, { "title": "CP110 suppresses primary cilia formation through its interaction with CEP290, a protein deficient in human ciliary disease.", "journal": "Developmental cell", "date": "2008", "authors": "Tsang WY, Bossard C, Khanna H, Peranen J, Swaroop A, Malhotra V, Dynlacht BD", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620912", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620912" } ], "reference": [ { "type": "PubMed", "id": "18694559", "url": "https://glygen.org/publication/PubMed/18694559" } ] }, { "title": "The TRAPP complex: insights into its architecture and function.", "journal": "Traffic (Copenhagen, Denmark)", "date": "2008", "authors": "Sacher M, Kim YG, Lavie A, Oh BH, Segev N", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620912", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620912" } ], "reference": [ { "type": "PubMed", "id": "18801063", "url": "https://glygen.org/publication/PubMed/18801063" } ] }, { "title": "C2cd3 is required for cilia formation and Hedgehog signaling in mouse.", "journal": "Development (Cambridge, England)", "date": "2008", "authors": "Hoover AN, Wynkoop A, Zeng H, Jia J, Niswander LA, Liu A", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620912", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620912" } ], "reference": [ { "type": "PubMed", "id": "19004860", "url": "https://glygen.org/publication/PubMed/19004860" } ] }, { "title": "A BBSome subunit links ciliogenesis, microtubule stability, and acetylation.", "journal": "Developmental cell", "date": "2008", "authors": "Loktev AV, Zhang Q, Beck JS, Searby CC, Scheetz TE, Bazan JF, Slusarski DC, Sheffield VC, Jackson PK, Nachury MV", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620912", "url": 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"reference": [ { "type": "PubMed", "id": "19940019", "url": "https://glygen.org/publication/PubMed/19940019" } ] }, { "title": "Ofd1, a human disease gene, regulates the length and distal structure of centrioles.", "journal": "Developmental cell", "date": "2010", "authors": "Singla V, Romaguera-Ros M, Garcia-Verdugo JM, Reiter JF", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620912", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620912" } ], "reference": [ { "type": "PubMed", "id": "20230748", "url": "https://glygen.org/publication/PubMed/20230748" } ] }, { "title": "Coordination of Rab8 and Rab11 in primary ciliogenesis.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2010", "authors": "Knodler A, Feng S, Zhang J, Zhang X, Das A, Peranen J, Guo W", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620912", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620912" } ], "reference": [ { "type": "PubMed", "id": "20308558", "url": "https://glygen.org/publication/PubMed/20308558" } ] }, { "title": "The ciliary membrane.", "journal": "Current opinion in cell biology", "date": "2010", "authors": "Rohatgi R, Snell WJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620912", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620912" } ], "reference": [ { "type": "PubMed", "id": "20399632", "url": "https://glygen.org/publication/PubMed/20399632" } ] }, { "title": "A septin diffusion barrier at the base of the primary cilium maintains ciliary membrane protein distribution.", "journal": "Science (New York, N.Y.)", "date": "2010", "authors": "Hu Q, Milenkovic L, Jin H, Scott MP, Nachury MV, Spiliotis ET, Nelson WJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620912", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620912" } ], "reference": [ { "type": "PubMed", "id": "20558667", "url": "https://glygen.org/publication/PubMed/20558667" } ] }, { "title": "Primary cilia membrane assembly is initiated by Rab11 and transport protein particle II (TRAPPII) complex-dependent trafficking of Rabin8 to the centrosome.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2011", "authors": "Westlake CJ, Baye LM, Nachury MV, Wright KJ, Ervin KE, Phu L, Chalouni C, Beck JS, Kirkpatrick DS, Slusarski DC, Sheffield VC, Scheller RH, Jackson PK", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620912", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620912" } ], "reference": [ { "type": "PubMed", "id": "21273506", "url": "https://glygen.org/publication/PubMed/21273506" } ] }, { "title": "Two TPX2-dependent switches control the activity of Aurora A.", "journal": "PloS one", "date": "2011", "authors": "Xu X, Wang X, Xiao Z, Li Y, Wang Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-8854518", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8854518" } ], "reference": [ { "type": "PubMed", "id": "21347367", "url": "https://glygen.org/publication/PubMed/21347367" } ] }, { "title": "MKS and NPHP modules cooperate to establish basal body/transition zone membrane associations and ciliary gate function during ciliogenesis.", "journal": "The Journal of cell biology", "date": "2011", "authors": "Williams CL, Li C, Kida K, Inglis PN, Mohan S, Semenec L, Bialas NJ, Stupay RM, Chen N, Blacque OE, Yoder BK, Leroux MR", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620912", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620912" } ], "reference": [ { "type": "PubMed", "id": "21422230", "url": "https://glygen.org/publication/PubMed/21422230" } ] }, { "title": "Mutations in the TSGA14 gene in families with autism spectrum disorders.", "journal": "Am. J. Med. Genet. B Neuropsychiatr. Genet.", "date": "2011", "authors": "Korvatska O, Estes A, Munson J, Dawson G, Bekris LM, Kohen R, Yu CE, Schellenberg GD, Raskind WH", "evidence": [ { "database": "UniProtKB", "id": "Q9BYV8", "url": "https://www.uniprot.org/uniprot/Q9BYV8" } ], "reference": [ { "type": "PubMed", "id": "21438139", "url": "https://glygen.org/publication/PubMed/21438139" } ] }, { "title": "TTBK2 kinase substrate specificity and the impact of spinocerebellar-ataxia-causing mutations on expression, activity, localization and development.", "journal": "The Biochemical journal", "date": "2011", "authors": "Bouskila M, Esoof N, Gay L, Fang EH, Deak M, Begley MJ, Cantley LC, Prescott A, Storey KG, Alessi DR", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620912", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620912" } ], "reference": [ { "type": "PubMed", "id": "21548880", "url": "https://glygen.org/publication/PubMed/21548880" } ] }, { "title": "Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways.", "journal": "Cell", "date": "2011", "authors": "Sang L, Miller JJ, Corbit KC, Giles RH, Brauer MJ, Otto EA, Baye LM, Wen X, Scales SJ, Kwong M, Huntzicker EG, Sfakianos MK, Sandoval W, Bazan JF, Kulkarni P, Garcia-Gonzalo FR, Seol AD, O'Toole JF, Held S, Reutter HM, Lane WS, Rafiq MA, Noor A, Ansar M, Devi AR, Sheffield VC, Slusarski DC, Vincent JB, Doherty DA, Hildebrandt F, Reiter JF, Jackson PK", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620912", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620912" } ], "reference": [ { "type": "PubMed", "id": "21565611", "url": "https://glygen.org/publication/PubMed/21565611" } ] }, { "title": "Centriolar kinesin Kif24 interacts with CP110 to remodel microtubules and regulate ciliogenesis.", "journal": "Cell", "date": "2011", "authors": "Kobayashi T, Tsang WY, Li J, Lane W, Dynlacht BD", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620912", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620912" } ], "reference": [ { "type": "PubMed", "id": "21620453", "url": "https://glygen.org/publication/PubMed/21620453" } ] }, { "title": "A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition.", "journal": "Nature genetics", "date": "2011", "authors": "Garcia-Gonzalo FR, Corbit KC, Sirerol-Piquer MS, Ramaswami G, Otto EA, Noriega TR, Seol AD, Robinson JF, Bennett CL, Josifova DJ, Garcia-Verdugo JM, Katsanis N, Hildebrandt F, Reiter JF", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620912", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620912" } ], "reference": [ { "type": "PubMed", "id": "21725307", "url": "https://glygen.org/publication/PubMed/21725307" } ] }, { "title": "Transition zone proteins and cilia dynamics.", "journal": "Nature genetics", "date": "2011", "authors": "Benzing T, Schermer B", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620912", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620912" } ], "reference": [ { "type": "PubMed", "id": "21792235", "url": "https://glygen.org/publication/PubMed/21792235" } ] }, { "title": "Activation of Aurora-A kinase by protein partner binding and phosphorylation are independent and synergistic.", "journal": "The Journal of biological chemistry", "date": "2012", "authors": "Dodson CA, Bayliss R", "evidence": [ { "database": "Reactome", "id": "R-HSA-8854518", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8854518" } ], "reference": [ { "type": "PubMed", "id": "22094468", "url": "https://glygen.org/publication/PubMed/22094468" } ] }, { "title": "A ciliopathy complex at the transition zone protects the cilia as a privileged membrane domain.", "journal": "Nature cell biology", "date": "2011", "authors": "Chih B, Liu P, Chinn Y, Chalouni C, Komuves LG, Hass PE, Sandoval W, Peterson AS", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620912", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620912" } ], "reference": [ { "type": "PubMed", "id": "22179047", "url": "https://glygen.org/publication/PubMed/22179047" } ] }, { "title": "CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium.", "journal": "Nat. Genet.", "date": "2012", "authors": "Lee JE, Silhavy JL, Zaki MS, Schroth J, Bielas SL, Marsh SE, Olvera J, Brancati F, Iannicelli M, Ikegami K, Schlossman AM, Merriman B, Attie-Bitach T, Logan CV, Glass IA, Cluckey A, Louie CM, Lee JH, Raynes HR, Rapin I, Castroviejo IP, Setou M, Barbot C, Boltshauser E, Nelson SF, Hildebrandt F, Johnson CA, Doherty DA, Valente EM, Gleeson JG", "evidence": [ { "database": "UniProtKB", "id": "Q9BYV8", "url": "https://www.uniprot.org/uniprot/Q9BYV8" }, { "database": "RefSeq", "id": "NP_001244087", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001244087" }, { "database": "dbSNP", "id": "rs368178632", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs368178632" } ], "reference": [ { "type": "PubMed", "id": "22246503", "url": "https://glygen.org/publication/PubMed/22246503" } ] }, { "title": "Plk1-dependent phosphorylation of optineurin provides a negative feedback mechanism for mitotic progression.", "journal": "Molecular cell", "date": "2012", "authors": "Kachaner D, Filipe J, Laplantine E, Bauch A, Bennett KL, Superti-Furga G, Israel A, Weil R", "evidence": [ { "database": "Reactome", "id": "R-HSA-2565942", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2565942" } ], "reference": [ { "type": "PubMed", "id": "22365832", "url": "https://glygen.org/publication/PubMed/22365832" } ] }, { "title": "A Rab8 guanine nucleotide exchange factor-effector interaction network regulates primary ciliogenesis.", "journal": "The Journal of biological chemistry", "date": "2012", "authors": "Feng S, Knodler A, Ren J, Zhang J, Zhang X, Hong Y, Huang S, Peranen J, Guo W", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620912", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620912" } ], "reference": [ { "type": "PubMed", "id": "22433857", "url": "https://glygen.org/publication/PubMed/22433857" } ] }, { "title": "Methylation and expression analyses of the 7q autism susceptibility locus genes MEST , COPG2, and TSGA14 in human and anthropoid primate cortices.", "journal": "Cytogenetic and genome research", "date": "2012", "authors": "Schneider E, Mayer S, El Hajj N, Jensen LR, Kuss AW, Zischler H, Kondova I, Bontrop RE, Navarro B, Fuchs E, Zechner U, Haaf T", "evidence": [ { "database": "RefSeq", "id": "NP_001244087", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001244087" } ], "reference": [ { "type": "PubMed", "id": "22456293", "url": "https://glygen.org/publication/PubMed/22456293" } ] }, { "title": "LATS1/WARTS phosphorylates MYPT1 to counteract PLK1 and regulate mammalian mitotic progression.", "journal": "The Journal of cell biology", "date": "2012", "authors": "Chiyoda T, Sugiyama N, Shimizu T, Naoe H, Kobayashi Y, Ishizawa J, Arima Y, Tsuda H, Ito M, Kaibuchi K, Aoki D, Ishihama Y, Saya H, Kuninaka S", "evidence": [ { "database": "Reactome", "id": "R-HSA-2565942", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2565942" } ], "reference": [ { "type": "PubMed", "id": "22641346", "url": "https://glygen.org/publication/PubMed/22641346" } ] }, { "title": "The base of the cilium: roles for transition fibres and the transition zone in ciliary formation, maintenance and compartmentalization.", "journal": "EMBO reports", "date": "2012", "authors": "Reiter JF, Blacque OE, Leroux MR", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620912", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620912" } ], "reference": [ { "type": "PubMed", "id": "22653444", "url": "https://glygen.org/publication/PubMed/22653444" } ] }, { "title": "TTBK2 kinase: linking primary cilia and cerebellar ataxias.", "journal": "Cell", "date": "2012", "authors": "Jackson PK", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620912", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620912" } ], "reference": [ { "type": "PubMed", "id": "23141531", "url": "https://glygen.org/publication/PubMed/23141531" } ] }, { "title": "The spinocerebellar ataxia-associated gene Tau tubulin kinase 2 controls the initiation of ciliogenesis.", "journal": "Cell", "date": "2012", "authors": "Goetz SC, Liem KF Jr, Anderson KV", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620912", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620912" } ], "reference": [ { "type": "PubMed", "id": "23141541", "url": "https://glygen.org/publication/PubMed/23141541" } ] }, { "title": "Cep164 mediates vesicular docking to the mother centriole during early steps of ciliogenesis.", "journal": "The Journal of cell biology", "date": "2012", "authors": "Schmidt KN, Kuhns S, Neuner A, Hub B, Zentgraf H, Pereira G", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620912", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620912" } ], "reference": [ { "type": "PubMed", "id": "23253480", "url": "https://glygen.org/publication/PubMed/23253480" } ] }, { "title": "Centriole distal appendages promote membrane docking, leading to cilia initiation.", "journal": "Genes & development", "date": "2013", "authors": "Tanos BE, Yang HJ, Soni R, Wang WJ, Macaluso FP, Asara JM, Tsou MF", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620912", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620912" } ], "reference": [ { "type": "PubMed", "id": "23348840", "url": "https://glygen.org/publication/PubMed/23348840" } ] }, { "title": "The microtubule affinity regulating kinase MARK4 promotes axoneme extension during early ciliogenesis.", "journal": "The Journal of cell biology", "date": "2013", "authors": "Kuhns S, Schmidt KN, Reymann J, Gilbert DF, Neuner A, Hub B, Carvalho R, Wiedemann P, Zentgraf H, Erfle H, Klingmuller U, Boutros M, Pereira G", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620912", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620912" } ], "reference": [ { "type": "PubMed", "id": "23400999", "url": "https://glygen.org/publication/PubMed/23400999" } ] }, { "title": "CCDC41 is required for ciliary vesicle docking to the mother centriole.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2013", "authors": "Joo K, Kim CG, Lee MS, Moon HY, Lee SH, Kim MJ, Kweon HS, Park WY, Kim CH, Gleeson JG, Kim J", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620912", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620912" } ], "reference": [ { "type": "PubMed", "id": "23530209", "url": "https://glygen.org/publication/PubMed/23530209" } ] }, { "title": "Assembling a primary cilium.", "journal": "Current opinion in cell biology", "date": "2013", "authors": "Kim S, Dynlacht BD", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620912", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620912" } ], "reference": [ { "type": "PubMed", "id": "23747070", "url": "https://glygen.org/publication/PubMed/23747070" } ] }, { "title": "Discovering regulators of centriole biogenesis through siRNA-based functional genomics in human cells.", "journal": "Developmental cell", "date": "2013", "authors": "Balestra FR, Strnad P, Fluckiger I, Gonczy P", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620912", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620912" } ], "reference": [ { "type": "PubMed", "id": "23769972", "url": "https://glygen.org/publication/PubMed/23769972" } ] }, { "title": "Primary ciliogenesis requires the distal appendage component Cep123.", "journal": "Biology open", "date": "2013", "authors": "Sillibourne JE, Hurbain I, Grand-Perret T, Goud B, Tran P, Bornens M", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620912", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620912" } ], "reference": [ { "type": "PubMed", "id": "23789104", "url": "https://glygen.org/publication/PubMed/23789104" } ] }, { "title": "NuMA phosphorylation by CDK1 couples mitotic progression with cortical dynein function.", "journal": "The EMBO journal", "date": "2013", "authors": "Kotak S, Busso C, Gonczy P", "evidence": [ { "database": "Reactome", "id": "R-HSA-380320", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-380320" } ], "reference": [ { "type": "PubMed", "id": "23921553", "url": "https://glygen.org/publication/PubMed/23921553" } ] }, { "title": "CP110 and its network of partners coordinately regulate cilia assembly.", "journal": "Cilia", "date": "2013", "authors": "Tsang WY, Dynlacht BD", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620912", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620912" } ], "reference": [ { "type": "PubMed", "id": "24053599", "url": "https://glygen.org/publication/PubMed/24053599" } ] }, { "title": "Autophagy promotes primary ciliogenesis by removing OFD1 from centriolar satellites.", "journal": "Nature", "date": "2013", "authors": "Tang Z, Lin MG, Stowe TR, Chen S, Zhu M, Stearns T, Franco B, Zhong Q", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620912", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620912" } ], "reference": [ { "type": "PubMed", "id": "24089205", "url": "https://glygen.org/publication/PubMed/24089205" } ] }, { "title": "Transition fibre protein FBF1 is required for the ciliary entry of assembled intraflagellar transport complexes.", "journal": "Nature communications", "date": "2013", "authors": "Wei Q, Xu Q, Zhang Y, Li Y, Zhang Q, Hu Z, Harris PC, Torres VE, Ling K, Hu J", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620912", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620912" } ], "reference": [ { "type": "PubMed", "id": "24231678", "url": "https://glygen.org/publication/PubMed/24231678" } ] }, { "title": "C2cd3 is critical for centriolar distal appendage assembly and ciliary vesicle docking in mammals.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2014", "authors": "Ye X, Zeng H, Ning G, Reiter JF, Liu A", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620912", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620912" } ], "reference": [ { "type": "PubMed", "id": "24469809", "url": "https://glygen.org/publication/PubMed/24469809" } ] }, { "title": "Cep164 triggers ciliogenesis by recruiting Tau tubulin kinase 2 to the mother centriole.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2014", "authors": "Cajanek L, Nigg EA", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620912", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620912" } ], "reference": [ { "type": "PubMed", "id": "24982133", "url": "https://glygen.org/publication/PubMed/24982133" } ] }, { "title": "Centriole structure.", "journal": "Philosophical transactions of the Royal Society of London. Series B, Biological sciences", "date": "2014", "authors": "Winey M, O'Toole E", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620912", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620912" } ], "reference": [ { "type": "PubMed", "id": "25047611", "url": "https://glygen.org/publication/PubMed/25047611" } ] }, { "title": "Chibby promotes ciliary vesicle formation and basal body docking during airway cell differentiation.", "journal": "The Journal of cell biology", "date": "2014", "authors": "Burke MC, Li FQ, Cyge B, Arashiro T, Brechbuhl HM, Chen X, Siller SS, Weiss MA, O'Connell CB, Love D, Westlake CJ, Reynolds SD, Kuriyama R, Takemaru K", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620912", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620912" } ], "reference": [ { "type": "PubMed", "id": "25313408", "url": "https://glygen.org/publication/PubMed/25313408" } ] }, { "title": "Microtubule nucleation in mitosis by a RanGTP-dependent protein complex.", "journal": "Current biology : CB", "date": "2015", "authors": "Scrofani J, Sardon T, Meunier S, Vernos I", "evidence": [ { "database": "Reactome", "id": "R-HSA-8854518", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8854518" } ], "reference": [ { "type": "PubMed", "id": "25532896", "url": "https://glygen.org/publication/PubMed/25532896" } ] }, { "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": "Q9BYV8", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9BYV8" }, { "database": "O-GlcNAc Atlas", "id": "Q9BYV8", "url": "https://oglcnac.org/atlas/detail/Q9BYV8" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "title": "Family-based exome sequencing and case-control analysis implicate CEP41 as an ASD gene.", "journal": "Translational psychiatry", "date": "2019", "authors": "Patowary A, Won SY, Oh SJ, Nesbitt RR, Archer M, Nickerson D, Raskind WH, Bernier R, Lee JE, Brkanac Z", "evidence": [ { "database": "RefSeq", "id": "NP_001244087", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001244087" } ], "reference": [ { "type": "PubMed", "id": "30664616", "url": "https://glygen.org/publication/PubMed/30664616" } ] }, { "title": "CEP41-mediated ciliary tubulin glutamylation drives angiogenesis through AURKA-dependent deciliation.", "journal": "EMBO reports", "date": "2020", "authors": "Ki SM, Kim JH, Won SY, Oh SJ, Lee IY, Bae YK, Chung KW, Choi BO, Park B, Choi EJ, Lee JE", "evidence": [ { "database": "RefSeq", "id": "NP_001244087", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001244087" } ], "reference": [ { "type": "PubMed", 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