{ "uniprot_canonical_ac": "O95684-1", "uniprot_ac": "O95684", "uniprot_id": "CEP43_HUMAN", "mass": { "chemical_mass": 43065.0, "monoisotopic_mass": 43065.0 }, "refseq": { "ac": "NP_008976", "name": "centrosomal protein 43 isoform a", "summary": "This gene encodes a largely hydrophilic centrosomal protein that is required for anchoring microtubules to subcellular structures. A t(6;8)(q27;p11) chromosomal translocation, fusing this gene and the fibroblast growth factor receptor 1 (FGFR1) gene, has been found in cases of myeloproliferative disorder. The resulting chimeric protein contains the N-terminal leucine-rich region of this encoded protein fused to the catalytic domain of FGFR1. Alterations in this gene may also be associated with Crohn's disease, Graves' disease, and vitiligo. Alternatively spliced transcript variants that encode different proteins have been identified. [provided by RefSeq, Jul 2013].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_008976" }, "gene_names": [ { "name": "CEP43", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O95684", "id": "O95684" }, { "name": "CEP43", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_008976", "id": "NP_008976" }, { "name": "FGFR1OP; FOP", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_008976", "id": "NP_008976" }, { "name": "FGFR1OP", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O95684", "id": "O95684" }, { "name": "FOP", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O95684", "id": "O95684" } ], "protein_names": [ { "name": "Centrosomal protein 43", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O95684" }, { "name": "FGFR1 oncogene partner", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95684" }, { "name": "centrosomal protein 43 isoform a", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_008976", "id": "NP_008976" }, { "name": "fibroblast growth factor receptor 1 oncogene partner; FGFR1 oncogene partner", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_008976", "id": "NP_008976" } ], "function": [ { "annotation": "CAP350 interacts directly with FOP (FGFR1 oncogene partner) to form a centrosomal complex required for microtubule anchoring.", "evidence": [ { "database": "RefSeq", "id": "NP_008976", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_008976" }, { "database": "PubMed", "id": "16314388", "url": "https://glygen.org/publication/PubMed/16314388" } ] }, { "annotation": "Required for anchoring microtubules to the centrosomes (PubMed:16314388, PubMed:28659385). Required for ciliation (PubMed:28625565, PubMed:28659385).", "evidence": [ { "database": "UniProtKB", "id": "O95684", "url": "https://www.uniprot.org/uniprot/O95684#function" }, { "database": "PubMed", "id": "28659385", "url": "https://glygen.org/publication/PubMed/28659385" }, { "database": "PubMed", "id": "28625565", "url": "https://glygen.org/publication/PubMed/28625565" }, { "database": "PubMed", "id": "16314388", "url": "https://glygen.org/publication/PubMed/16314388" } ] }, { "annotation": "This gene encodes a largely hydrophilic centrosomal protein that is required for anchoring microtubules to subcellular structures. A t(6;8)(q27;p11) chromosomal translocation, fusing this gene and the fibroblast growth factor receptor 1 (FGFR1) gene, has been found in cases of myeloproliferative disorder. The resulting chimeric protein contains the N-terminal leucine-rich region of this encoded protein fused to the catalytic domain of FGFR1. Alterations in this gene may also be associated with Crohn's disease, Graves' disease, and vitiligo. Alternatively spliced transcript variants that encode different proteins have been identified. [provided by RefSeq, Jul 2013].", "evidence": [ { "database": "RefSeq", "id": "NP_008976", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_008976" } ] }, { "annotation": "We show that Fop mutation perturbs ciliogenesis in vivo and that this leads to the alteration of the Hedgehog signaling pathway. Fop mutation reduces CSs movements and affects pericentriolar material composition, which probably participates to the ciliogenesis defect.", "evidence": [ { "database": "RefSeq", "id": "NP_008976", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_008976" }, { "database": "PubMed", "id": "29982567", "url": "https://glygen.org/publication/PubMed/29982567" } ] } ], "disease": [], "snv": [], "mutagenesis": [ { "start_pos": 74, "end_pos": 74, "sequence_org": "V", "sequence_mut": "F", "comment": "Abolishes homodimerization and leads to aggregation.", "evidence": [ { "database": "UniProtKB", "id": "O95684", "url": "https://www.uniprot.org/uniprot/O95684" }, { "database": "PubMed", "id": "16690081", "url": "https://glygen.org/publication/PubMed/16690081" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "81.58", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000213066", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000213066" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "82.3", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000213066", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000213066" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "79.41", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000213066", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000213066" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "66.25", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000213066", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000213066" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "83.41", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000213066", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000213066" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "90.78", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000213066", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000213066" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "75.48", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000213066", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000213066" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "82.05", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000213066", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000213066" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "88.3", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000213066", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000213066" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "73.98", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000213066", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000213066" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "89.89", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000213066", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000213066" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "84.39", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000213066", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000213066" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "85.38", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000213066", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000213066" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O95684", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95684" } ], "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, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", 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"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": "O95684", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95684" } ], "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": 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"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", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O95684", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95684" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": 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"https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": 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"" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": 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"A0A994J5D2-1", "url": "https://www.uniprot.org/uniprot/A0A994J5D2-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A994J5E9", "url": "https://www.uniprot.org/uniprot/A0A994J5E9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A994J5E9-1", "url": "https://www.uniprot.org/uniprot/A0A994J5E9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A994J5F4", "url": "https://www.uniprot.org/uniprot/A0A994J5F4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A994J5F4-1", "url": "https://www.uniprot.org/uniprot/A0A994J5F4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A994J5F6", "url": "https://www.uniprot.org/uniprot/A0A994J5F6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A994J5F6-1", "url": "https://www.uniprot.org/uniprot/A0A994J5F6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A994J5H0", "url": "https://www.uniprot.org/uniprot/A0A994J5H0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A994J5H0-1", "url": "https://www.uniprot.org/uniprot/A0A994J5H0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A994J5H4", "url": "https://www.uniprot.org/uniprot/A0A994J5H4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A994J5H4-1", "url": "https://www.uniprot.org/uniprot/A0A994J5H4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A994J5H8", "url": "https://www.uniprot.org/uniprot/A0A994J5H8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A994J5H8-1", "url": "https://www.uniprot.org/uniprot/A0A994J5H8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A994J7B5", "url": "https://www.uniprot.org/uniprot/A0A994J7B5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A994J7B5-1", "url": "https://www.uniprot.org/uniprot/A0A994J7B5-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A994J7B9", "url": "https://www.uniprot.org/uniprot/A0A994J7B9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A994J7B9-1", "url": "https://www.uniprot.org/uniprot/A0A994J7B9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A994J7C9", "url": "https://www.uniprot.org/uniprot/A0A994J7C9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A994J7C9-1", "url": "https://www.uniprot.org/uniprot/A0A994J7C9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A994J7D3", "url": "https://www.uniprot.org/uniprot/A0A994J7D3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A994J7D3-1", "url": "https://www.uniprot.org/uniprot/A0A994J7D3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A994J7Q3", "url": "https://www.uniprot.org/uniprot/A0A994J7Q3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A994J7Q3-1", "url": "https://www.uniprot.org/uniprot/A0A994J7Q3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A994J7Q7", "url": "https://www.uniprot.org/uniprot/A0A994J7Q7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A994J7Q7-1", "url": "https://www.uniprot.org/uniprot/A0A994J7Q7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A994J7R7", "url": "https://www.uniprot.org/uniprot/A0A994J7R7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A994J7R7-1", "url": "https://www.uniprot.org/uniprot/A0A994J7R7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A994J7S1", "url": "https://www.uniprot.org/uniprot/A0A994J7S1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A994J7S1-1", "url": "https://www.uniprot.org/uniprot/A0A994J7S1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A994J7S5", "url": "https://www.uniprot.org/uniprot/A0A994J7S5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A994J7S5-1", "url": "https://www.uniprot.org/uniprot/A0A994J7S5-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O95684", "url": "https://www.uniprot.org/uniprot/O95684", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O95684-1", "url": "https://www.uniprot.org/uniprot/O95684-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O95684-2", "url": "https://www.uniprot.org/uniprot/O95684-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O95684-3", "url": "https://www.uniprot.org/uniprot/O95684-3", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MAATAAAVVAEEDTELRDLLVQTLENSGVLNRIKAELRAAVFLALEEQEKVENKTPLVNESLKKFLNTKDGRLVASLVAEFLQFFNLDFTLAVFQPETSTLQGLEGRENLARDLGIIEAEGTVGGPLLLEVIRRCQQKEKGPTTGEGALDLSDVHSPPKSPEGKTSAQTTPSKIPRYKGQGKKKTSGQKAGDKKANDEANQSDTSVSLSEPKSKSSLHLLSHETKIGSFLSNRTLDGKDKAGLCPDEDDMEGDSFFDDPIPKPEKTYGLRKEPRKQAGSLASLSDAPPLKSGLSSLAGAPSLKDSESKRGNTVLKDLKLISDKIGSLGLGTGEDDDYVDDFNSTSHRSEKSEISIGEEIEEDLSVEIDDINTSDKLDDLTQDLTVSQLSDVADYLEDVA", "length": 399, "header": "sp|O95684-1|CEP43_HUMAN Isoform 1 of Centrosomal protein 43 OS=Homo sapiens OX=9606 GN=CEP43 PE=1 SV=1 CANONICAL=O95684-1" }, "isoforms": [ { "isoform_ac": "A0A087WV25-1", "url": "", "sequence": { "sequence": "MAATAAAVVAEEDTELRDLLVQTLENSGVLNRIKAELRAAVFLALEEQEKVENKTPLVNESLKKFLNTKDGRLVASLVAEFLQFFNLDFTLAVFQPETSTLQGLEGRENLARDLGIIEAEGTVGGPLLLEVIRRCQQKEKGPTTGEKANDEANQSDTSVSLSEPKSKSSLHLLSHETKIGSFLSNRTLDGKDKAGLCPDEDDMEGDSFFDDPIPKPEKTYGLRKEPRKQAGSLASLSDAPPLKSGLSSLAGAPSLKDSESKRGNTVLKDLKLISDKIGSLGLGTGEDDDYVDDFNSTSHRSEKSEISIGEEIEEDLSVEIDDINTSDKTITQLECLLSIGALHFKNTADIF", "length": 351, "header": "tr|A0A087WV25-1|CEP43_HUMAN Computationally mapped isoform of Centrosomal protein 43 OS=Homo sapiens OX=9606 GN=CEP43 PE=1 SV=1 CANONICAL=O95684-1" }, "locus": { "chromosome": "6", "start_pos": 167040116, "end_pos": 166999413, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000622353.4", "url": "https://www.ensembl.org/id/ENST00000622353.4" }, { "database": "Ensembl Peptide", "id": "ENSP00000479115.1", "url": "https://www.ensembl.org/id/ENSP00000479115.1" } ] } }, { "isoform_ac": "A0A994J4R0-1", "url": "", "sequence": { "sequence": "MAATAAAVVAEEDTELRDLLVQTLENSGVLNRIKAELRAAVFLALEEQEKVEKANDEANQSDTSVSLSEPKSKSSLHLLSHETKIGSFLSNRTLDGKDKAGLCPDEDDMEGDSFFDDPIPKPEKTYGLRKEPRKQAGSLASLSDAPPLKSGLSSLAGAPSLKDSESKRGNTVLKDLKLISDKIGSLGLGTGEDDDYVDDFNSTSHRSEKSEISIGEEIEEDLSVEIDDINTSDKLDDLTQDLTVSQLSDVADYLEDVA", "length": 258, "header": "tr|A0A994J4R0-1|CEP43_HUMAN Computationally mapped isoform of Centrosomal protein 43 OS=Homo sapiens OX=9606 GN=CEP43 PE=1 SV=1 CANONICAL=O95684-1" }, "locus": { "chromosome": "6", "start_pos": 167039975, "end_pos": 166999413, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000704900.1", "url": "https://www.ensembl.org/id/ENST00000704900.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000516059.1", "url": "https://www.ensembl.org/id/ENSP00000516059.1" } ] } }, { "isoform_ac": "A0A994J4R8-1", "url": "", "sequence": { "sequence": "MEGDSFFDDPIPKPEKTYGLRKEPRKQAGSLASLSDAPPLKSGLSSLAGAPSLKDSESKRGNTVLKDLKLISDKIGSLGLEE", "length": 82, "header": "tr|A0A994J4R8-1|CEP43_HUMAN Computationally mapped isoform of Centrosomal protein 43 OS=Homo sapiens OX=9606 GN=CEP43 PE=1 SV=1 CANONICAL=O95684-1" }, "locus": { "chromosome": "6", "start_pos": 167027871, "end_pos": 167022577, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000705169.1", "url": "https://www.ensembl.org/id/ENST00000705169.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000516072.1", "url": "https://www.ensembl.org/id/ENSP00000516072.1" } ] } }, { "isoform_ac": "A0A994J4T6-1", "url": "", "sequence": { "sequence": "MAATAAAVVAEEDTELRDLLVQTLENSGVLNRIKAELRAAVFLALEEQEKVENKTPLVNESLKKFLNTKDGRLVASLVAEFLQFFNLDFTLAVFQPETSTLQGLEGRENLARDLGIIEAEGTVGGPLLLEVIRRCQQKEKGPTTGEGALDLSDVHSPPKSPEGKTSAQTTPSKKANDEANQSDTSVSLSEPKSKSSLHLLSHETKIGSFLSNRTLDGKDKAGLCPDEDDMEGDSFFDDPIPKPEKTYGLRKEPRKQAGSLASLSDAPPLKSGLSSLAGAPSLKDSERTGEDDDYVDDFNSTSHRSEKSEISIGEEIEEDLSVEIDDINTSDKLDDLTQDLTVSQLSDVADYLEDVA", "length": 356, "header": "tr|A0A994J4T6-1|A0A994J4T6_HUMAN Computationally mapped isoform of Centrosomal protein 43 OS=Homo sapiens OX=9606 GN=CEP43 PE=1 SV=1 CANONICAL=O95684-1" }, "locus": { "chromosome": "6", "start_pos": 167039975, "end_pos": 166999413, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000705236.1", "url": "https://www.ensembl.org/id/ENST00000705236.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000516094.1", "url": "https://www.ensembl.org/id/ENSP00000516094.1" } ] } }, { "isoform_ac": "A0A994J4U0-1", "url": "", "sequence": { "sequence": "MAATAAAVVAEEDTELRDLLVQTLENSGVLNRIKAELRAAVFLALEEQEKVENKTPLVNESLKKFLNTKDGRLVASLVAEFLQFFNLDFTLAVFQPETSTLQGLEGRENLARDLGIIEAEGTVGGPLLLEVIRRCQQKEKGPTTGEGALDLSDVHSPPKSPEGKTSAQTTPSKKANDEANQSDTSVSLSEPKSKSSLHLLSHETKIGSFLSNRTLDGKDKAGLCPDEDDMEGDSFFDDPIPKPEKTYGGRNLGSKQEVWPRSRMHPP", "length": 267, "header": "tr|A0A994J4U0-1|CEP43_HUMAN Computationally mapped isoform of Centrosomal protein 43 OS=Homo sapiens OX=9606 GN=CEP43 PE=1 SV=1 CANONICAL=O95684-1" }, "locus": { "chromosome": "6", "start_pos": 167024840, "end_pos": 166999413, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000705241.1", "url": "https://www.ensembl.org/id/ENST00000705241.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000516099.1", "url": "https://www.ensembl.org/id/ENSP00000516099.1" } ] } }, { "isoform_ac": "A0A994J4U5-1", "url": "", "sequence": { "sequence": "MAATAAAVVAEEDTELRDLLVQTLENSGVLNRIKAELRAAVFLALEEQEKVENKTPLVNESLKKFLNTKDGRLVASLVAEFLQFFNLDFTLAVFQPETSTLQGLEGRENLARDLGIIEAEGTVGGPLLLEVIRRCQQKEKGPTTGEGALDLSDVHSPPKSPEGKTSAQTTPSKIPRYKGQGKKKTSGQKAGDKDASSITWKPFSLYISDLVSELPCEKSVLYPMWPIASLTYMEGQ", "length": 236, "header": "tr|A0A994J4U5-1|CEP43_HUMAN Computationally mapped isoform of Centrosomal protein 43 OS=Homo sapiens OX=9606 GN=CEP43 PE=1 SV=1 CANONICAL=O95684-1" }, "locus": { "chromosome": "6", "start_pos": 167022416, "end_pos": 166999413, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000705252.1", "url": "https://www.ensembl.org/id/ENST00000705252.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000516104.1", "url": "https://www.ensembl.org/id/ENSP00000516104.1" } ] } }, { "isoform_ac": "A0A994J500-1", "url": "", "sequence": { "sequence": "MAATAAAVVAEEDTELRDLLVQTLENSGVLNRIKAELRAAVFLALEEQEKVENKTPLVNESLKKFLNTKDGRLVASLVAEFLQFFNLDFTLAVFQPETSTLQGLEGRENLARDLGIIEAEGTVGGPLLLEVIRRCQQKEKGPTTGEGALDLSDVHSPPKSPEGKTSAQTTPSKIPRYKGQGKKKTSGQKAGDKARMLPQLLGNLFPCTFLILFLNCLVRSLYCTPCGLLPALLIWKANDEANQSDTSVSLSEPKSKSSLHLLSHETKIGSFLSNRTLDGKDKAGLCPDEDDMEGDSFFDDPIPKPEKTYGLRKEPRKQAGSLASLSDAPPLKSGLSSLAGAPSLKDSESKRGNTVLKDLKLISDKIGSLGLGTGEDDDYVDDFNSTSHRSEKSEISIGEEIEEDLSVEIDDINTSDKLDDLTQDLTVSQLSDVADYLEDVA", "length": 441, "header": "tr|A0A994J500-1|CEP43_HUMAN Computationally mapped isoform of Centrosomal protein 43 OS=Homo sapiens OX=9606 GN=CEP43 PE=1 SV=1 CANONICAL=O95684-1" }, "locus": { "chromosome": "6", "start_pos": 167039975, "end_pos": 166999413, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000705175.1", "url": "https://www.ensembl.org/id/ENST00000705175.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000516077.1", "url": "https://www.ensembl.org/id/ENSP00000516077.1" } ] } }, { "isoform_ac": "A0A994J505-1", "url": "", "sequence": { "sequence": "MAATAAAVVAEEDTELRDLLVQTLENSGVLNRIKAELRAAVFLALEEQEKVEGALDLSDVHSPPKSPEGKTSAQTTPSKKANDEANQSDTSVSLSEPKSKSSLHLLSHETKIGSFLSNRTLDGKDKAGLCPDEDDMEGDSFFDDPIPKPEKTYGLRKEPRKQAGSLASLSDAPPLKSGLSSLAGAPSLKDSESKRGNTVLKDLKLISDKIGSLGLGTGEDDDYVDDFNSTSHRSEKSEISIGEEIEEDLSVEIDDINTSDKLDDLTQDLTVSQLSDVADYLEDVA", "length": 285, "header": "tr|A0A994J505-1|CEP43_HUMAN Computationally mapped isoform of Centrosomal protein 43 OS=Homo sapiens OX=9606 GN=CEP43 PE=1 SV=1 CANONICAL=O95684-1" }, "locus": { "chromosome": "6", "start_pos": 167039975, "end_pos": 166999413, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000705180.1", "url": "https://www.ensembl.org/id/ENST00000705180.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000516082.1", "url": "https://www.ensembl.org/id/ENSP00000516082.1" } ] } }, { "isoform_ac": "A0A994J518-1", "url": "", "sequence": { "sequence": "MAATAAAVVAEEDTELRDLLVQTLENSGVLNRIKAELRAAVFLALEEQEKVENKTPLVNESLKKFLNTKDGRLVASLVAEFLQFFNLDFTLAVFQPETSTLQGLEGRENLARDLGIIEAEGTVGGPLLLEVIRRCQQKEKGPTTGEGALDLSDVHSPPKSPEGKTSAQTTPSKKANDEANQSDTSVSLSEPKSKSSLHLLSHETKIGSFLSNRTLDGKDKAGLCPDEDDMEGDSFFDDPIPKPEKTYGLKEPRKQAGSLASLSDAPPLKSGLSSLAGAPSLKDSESKRGNTVLKDLKLISDKIGSLGLGTGEDDDYVDDFNSTSHRSEKSEISIGEEIEEDLSVEIDDINTSDKLDDLTQDLTVSQLSDVADYLEDVA", "length": 378, "header": "tr|A0A994J518-1|CEP43_HUMAN Computationally mapped isoform of Centrosomal protein 43 OS=Homo sapiens OX=9606 GN=CEP43 PE=1 SV=1 CANONICAL=O95684-1" }, "locus": { "chromosome": "6", "start_pos": 167039975, "end_pos": 166999413, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000705239.1", "url": "https://www.ensembl.org/id/ENST00000705239.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000516097.1", "url": "https://www.ensembl.org/id/ENSP00000516097.1" } ] } }, { "isoform_ac": "A0A994J523-1", "url": "", "sequence": { "sequence": "MAATAAAVVAEEDTELRDLLVQTLENSGVLNRIKAELRAAVFLALEEQEKVEGALDLSDVHSPPKSPEGKTSAQTTPSKIPRYKGQGKKKTSGQKAGDKKANDEANQSDTSVSLSEPKSKSSLHLLSHETKIGSFLSNRTLDGKDKAGLCPDEDDMEGDSFFDDPIPKPEKTYGLRKEPRKQAGSLASLSDAPPLKSGLSSLAGAPSLKDSESKRGNTVLKDLKLISDKIGSLGLGTGEDDDYVDDFNSTSHRSEKSEISIGEEIEEDLSVEIDDINTSDKSHLYFPATAACELKGLNHTLLFLQPACIFSAHNERGINEFQRCFRLQ", "length": 328, "header": "tr|A0A994J523-1|CEP43_HUMAN Computationally mapped isoform of Centrosomal protein 43 OS=Homo sapiens OX=9606 GN=CEP43 PE=1 SV=1 CANONICAL=O95684-1" }, "locus": { "chromosome": "6", "start_pos": 167136274, "end_pos": 166999413, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000705250.1", "url": "https://www.ensembl.org/id/ENST00000705250.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000516102.1", "url": "https://www.ensembl.org/id/ENSP00000516102.1" } ] } }, { "isoform_ac": "A0A994J527-1", "url": "", "sequence": { "sequence": "MAATAAAVVAEEDTELRDLLVQTLENSGVLNRIKAELRAAVFLALEEQEKVENKTPLVNESLKKFLNTKDGRLVASLVAEFLQFFNLDFTLAVFQPETSTLQGLEGRENLARDLGIIEAEGTVGGPLLLEVIRRCQQKEKGPTTGEGALDLSDVHSPPKSPEGKTSAQTTPSKIPRYKGQGKKKTSGQKAGDKKANDEANQSDTSVSLSEPKSKSSLHLLSHETKIGSFLSNRTLDGKDKAGLCPDEDDMEGDSFFDDPIPKPEKTYGLKEPRKQAGSLASLSDAPPLKSGLSSLAGAPSLKDSESKRGNTVLKDLKLISDKIGSLGLGTGEDDDYVDDFNSTSHRSEKSEISIGEEIEEDLSVEIDDINTSDKQEDQD", "length": 379, "header": "tr|A0A994J527-1|CEP43_HUMAN Computationally mapped isoform of Centrosomal protein 43 OS=Homo sapiens OX=9606 GN=CEP43 PE=1 SV=1 CANONICAL=O95684-1" }, "locus": { "chromosome": "6", "start_pos": 167044419, "end_pos": 166999413, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000705256.1", "url": "https://www.ensembl.org/id/ENST00000705256.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000516107.1", "url": "https://www.ensembl.org/id/ENSP00000516107.1" } ] } }, { "isoform_ac": "A0A994J5D2-1", "url": "", "sequence": { "sequence": "MAATAAAVVAEEDTELRDLLVQTLENSGVLNRIKAELRAAVFLALEEQEKVENKTPLVNESLKKFLNTKDGRLVASLVAEFLQFFNLDFTLAVFQPETSTLQGLEGRENLARDLGIIEAEGTVGGPLLLEVIRRCQQKEKGPTTGEGALDLSDVHSPPKSPEGKTSAQTTPSKIPRYKGQGKKKTSGQKAGDKKANDEANQSDTSVSLSEPKSKSSLHLLSHETKIGSFLSNRTLDGKDKAGLCPDEDDMEGDSFFDDPIPKPEKTYGGRNLGSKQEVWPRSRMHPP", "length": 287, "header": "tr|A0A994J5D2-1|CEP43_HUMAN Computationally mapped isoform of Centrosomal protein 43 OS=Homo sapiens OX=9606 GN=CEP43 PE=1 SV=1 CANONICAL=O95684-1" }, "locus": { "chromosome": "6", "start_pos": 167024840, "end_pos": 166999413, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000488525.2", "url": "https://www.ensembl.org/id/ENST00000488525.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000516042.1", "url": "https://www.ensembl.org/id/ENSP00000516042.1" } ] } }, { "isoform_ac": "A0A994J5E9-1", "url": "", "sequence": { "sequence": "MAATAAAVVAEEDTELRDLLVQTLENSGVLNRIKAELRAAVFLALEEQEKVENKTPLVNESLKKFLNTKDGRLVASLVAEFLQFFNLDFTLAVFQPETSTLQGLEGRENLARDLGIIEAEGTVGGPLLLEVIRRCQQKEKGPTTGEGALDLSDVHSPPKSPEGKTSAQTTPSKIPRYKGQGKKKTSGQKAGDKVTCMRAEEKSSLWASGLDSGASWSAGLLSDWVLSFLMKCHLRLG", "length": 237, "header": "tr|A0A994J5E9-1|CEP43_HUMAN Computationally mapped isoform of Centrosomal protein 43 OS=Homo sapiens OX=9606 GN=CEP43 PE=1 SV=1 CANONICAL=O95684-1" }, "locus": { "chromosome": "6", "start_pos": 167013699, "end_pos": 166999413, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000705058.1", "url": "https://www.ensembl.org/id/ENST00000705058.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000516068.1", "url": "https://www.ensembl.org/id/ENSP00000516068.1" } ] } }, { "isoform_ac": "A0A994J5F4-1", "url": "", "sequence": { "sequence": "MAATAAAVVAEEDTELRDLLVQTLENSGVLNRIKAELRAAVFLALEEQEKVENKTPLVNESLKKFLNTKDGRLVASLVAEFLQFFNLDFTLAVFQPETSTLQGLEGRENLARDLGIIEAEGTVGGPLLLEVIRRCQQKEKGPTTGEGALDLSDVHSPPKSPEGKTSAQTTPSKIPRYKGQGKKKTSGQKAGDKIESHLQILGPFSRFSEIRRPMMRPIRVIQVSPCQNPRAKAAFTYCPMKQKLDLF", "length": 247, "header": "tr|A0A994J5F4-1|CEP43_HUMAN Computationally mapped isoform of Centrosomal protein 43 OS=Homo sapiens OX=9606 GN=CEP43 PE=1 SV=1 CANONICAL=O95684-1" }, "locus": { "chromosome": "6", "start_pos": 167022517, "end_pos": 166999413, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000705173.1", "url": "https://www.ensembl.org/id/ENST00000705173.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000516075.1", "url": "https://www.ensembl.org/id/ENSP00000516075.1" } ] } }, { "isoform_ac": "A0A994J5F6-1", "url": "", "sequence": { "sequence": "MAATAAAVVAEEDTELRDLLVQTLENSGVLNRIKAELRAAVFLALEEQEKVEGALDLSDVHSPPKSPEGKTSAQTTPSKIPRYKGQGKKKTSGQKAGDKKANDEANQSDTSVSLSEPKSKSSLHLLSHETKIGSFLSNRTLDGKDKAGLCPDEDDMEGDSFFDDPIPKPEKTYGLRKEPRKQAGSLASLSDAPPLKSGLSSLAGAPSLKDSESKRGNTVLKDLKLISDKIGSLGLGTGEDDDYVDDFNSTSHRSEKSEISIGEEIEEDLSVEIDDINTSDKLDDLTQDLTVSQLSDVADYLEDVA", "length": 305, "header": "tr|A0A994J5F6-1|CEP43_HUMAN Computationally mapped isoform of Centrosomal protein 43 OS=Homo sapiens OX=9606 GN=CEP43 PE=1 SV=1 CANONICAL=O95684-1" }, "locus": { "chromosome": "6", "start_pos": 167039975, "end_pos": 166999413, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000705179.1", "url": "https://www.ensembl.org/id/ENST00000705179.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000516081.1", "url": "https://www.ensembl.org/id/ENSP00000516081.1" } ] } }, { "isoform_ac": "A0A994J5H0-1", "url": "", "sequence": { "sequence": "MAATAAAVVAEEDTELRDLLVQTLENSGVLNRIKAELRAAVFLALEEQEKVENKTPLVNESLKKFLNTKDGRLVASLVAEFLQFFNLDFTLAVFQPETSTLQGLEGRENLARDLGIIEAEGTVGGPLLLEVIRRCQQKEKGPTTGEKANDEANQSDTSVSLSEPKSKSSLHLLSHETKIGSFLSNRTLDGKDKAGLCPDEDDMEGDSFFDDPIPKPEKTYGLRKEPRKQAGSLASLSDAPPLKSGLSSLAGAPSLKDSESKRGNTVLKDLKLISDKIGSLGLGTGEDDDYVDDFNSTSHRSEKSEISIGEEIEEDLSVEIDDINTSDKLDDLTQDLTVSQLSDVADYLEDVA", "length": 352, "header": "tr|A0A994J5H0-1|CEP43_HUMAN Computationally mapped isoform of Centrosomal protein 43 OS=Homo sapiens OX=9606 GN=CEP43 PE=1 SV=1 CANONICAL=O95684-1" }, "locus": { "chromosome": "6", "start_pos": 167039975, "end_pos": 166999413, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000705238.1", "url": "https://www.ensembl.org/id/ENST00000705238.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000516096.1", "url": "https://www.ensembl.org/id/ENSP00000516096.1" } ] } }, { "isoform_ac": "A0A994J5H4-1", "url": "", "sequence": { "sequence": "MAATAAAVVAEEDTELRDLLVQTLENSGVLNRIKAELRAAVFLALEEQEKVENKTPLVNESLKKFLNTKDGRLVASLVAEFLQFFNLDFTLAVFQPETSTLQGLEGRENLARDLGIIEAEGTVGGPLLLEVIRRCQQKEKGPTTGEGALDLSDVHSPPKSPEGKTSAQTTPSKKANDEANQSDTSVSLSEPKSKSSLHLLSHETKIGSFLSNRTLDGKDKAGLCPDEDDMEGDSFFDDPIPKPEKTYGLRKEPRKQAGSLASLSDAPPLKSGLSSLAGAPSLKDSESKRGNTVLKDLKLISDKIGSLGLGTGEDDDYVDDFNSTSHRSEKSEISIGEEIEEDLSVEIDDINTSDKSHLYFPATAACELKGLNHTLLFLQPACIFSAHNERGINEFQRCFRLQ", "length": 402, "header": "tr|A0A994J5H4-1|CEP43_HUMAN Computationally mapped isoform of Centrosomal protein 43 OS=Homo sapiens OX=9606 GN=CEP43 PE=1 SV=1 CANONICAL=O95684-1" }, "locus": { "chromosome": "6", "start_pos": 167136274, "end_pos": 166999413, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000705249.1", "url": "https://www.ensembl.org/id/ENST00000705249.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000516101.1", "url": "https://www.ensembl.org/id/ENSP00000516101.1" } ] } }, { "isoform_ac": "A0A994J5H8-1", "url": "", "sequence": { "sequence": "RAAVFLALEEQEKVEGALDLSDVHSPPKSPEGKTSAQTTPSKKANDEANQSDTSVSLSEPKSKSSLHLLSHETKIGSFLSNRTLDGKDKAGLCPDEDDMEGDSFFDDPIPKPEKTYGLRKEPRKQAGSLASLSDAPPLKSGLSSLAGAPSLKDSESKRGNTVLKDLKLISDKIGSLGLGTGEDDDYVDDFNSTSHRSEKSEISIGEEIEEDLSVEIDDINTSDKSHLYFPATAACELKGLNHTLLFLQPACIFSAHNERGINEFQRCFRLQ", "length": 271, "header": "tr|A0A994J5H8-1|CEP43_HUMAN Computationally mapped isoform of Centrosomal protein 43 OS=Homo sapiens OX=9606 GN=CEP43 PE=1 SV=1 CANONICAL=O95684-1" }, "locus": { "chromosome": "6", "start_pos": 167136274, "end_pos": 167000069, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000705254.1", "url": "https://www.ensembl.org/id/ENST00000705254.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000516106.1", "url": "https://www.ensembl.org/id/ENSP00000516106.1" } ] } }, { "isoform_ac": "A0A994J7B5-1", "url": "", "sequence": { "sequence": "MAATAAAVVAEEDTELRDLLVQTLENSGVLNRIKAELRAAVFLALEEQEKVENKTPLVNESLKKFLNTKDGRLVASLVAEFLQFFNLDFTLAVFQPETSTLQGLEGRENLARDLGIIEAEGTVGGPLLLEVIRRCQQKEKGPTTGEGALDLSDVHSPPKSPEGKTSAQTTPSKIPRYKGQGKKKTSGQKAGDKTIAHL", "length": 198, "header": "tr|A0A994J7B5-1|CEP43_HUMAN Computationally mapped isoform of Centrosomal protein 43 OS=Homo sapiens OX=9606 GN=CEP43 PE=1 SV=1 CANONICAL=O95684-1" }, "locus": { "chromosome": "6", "start_pos": 167014302, "end_pos": 166999413, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000705172.1", "url": "https://www.ensembl.org/id/ENST00000705172.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000516074.1", "url": "https://www.ensembl.org/id/ENSP00000516074.1" } ] } }, { "isoform_ac": "A0A994J7B9-1", "url": "", "sequence": { "sequence": "MAATAAAVVAEEDTELRDLLVQTLENSGVLNRIKKANDEANQSDTSVSLSEPKSKSSLHLLSHETKIGSFLSNRTLDGKDKAGLCPDEDDMEGDSFFDDPIPKPEKTYGLRKEPRKQAGSLASLSDAPPLKSGLSSLAGAPSLKDSESKRGNTVLKDLKLISDKIGSLGLGTGEDDDYVDDFNSTSHRSEKSEISIGEEIEEDLSVEIDDINTSDKLDDLTQDLTVSQLSDVADYLEDVA", "length": 240, "header": "tr|A0A994J7B9-1|CEP43_HUMAN Computationally mapped isoform of Centrosomal protein 43 OS=Homo sapiens OX=9606 GN=CEP43 PE=1 SV=1 CANONICAL=O95684-1" }, "locus": { "chromosome": "6", "start_pos": 167039975, "end_pos": 166999413, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000705178.1", "url": "https://www.ensembl.org/id/ENST00000705178.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000516080.1", "url": "https://www.ensembl.org/id/ENSP00000516080.1" } ] } }, { "isoform_ac": "A0A994J7C9-1", "url": "", "sequence": { "sequence": "MAATAAAVVAEEDTELRDLLVQTLENSGVLNRIKAELRAAVFLALEEQEKVEGALDLSDVHSPPKSPEGKTSAQTTPSKKANDEANQSDTSVSLSEPKSKSSLHLLSHETKIGSFLSNRTLDGKDKAGLCPDEDDMEGDSFFDDPIPKPEKTYGLRKEPRKQAGSLASLSDAPPLKSGLSSLAGAPSLKDSERTGEDDDYVDDFNSTSHRSEKSEISIGEEIEEDLSVEIDDINTSDKLDDLTQDLTVSQLSDVADYLEDVA", "length": 262, "header": "tr|A0A994J7C9-1|CEP43_HUMAN Computationally mapped isoform of Centrosomal protein 43 OS=Homo sapiens OX=9606 GN=CEP43 PE=1 SV=1 CANONICAL=O95684-1" }, "locus": { "chromosome": "6", "start_pos": 167039975, "end_pos": 166999413, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000705237.1", "url": "https://www.ensembl.org/id/ENST00000705237.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000516095.1", "url": "https://www.ensembl.org/id/ENSP00000516095.1" } ] } }, { "isoform_ac": "A0A994J7D3-1", "url": "", "sequence": { "sequence": "MAATAAAVVAEEDTELRDLLVQTLENSGVLNRIKAELRAAVFLALEEQEKVENKTPLVNESLKKFLNTKDGRLVASLVAEFLQFFNLDFTLAVFQPETSTLQGLEGRENLARDLGIIEAEGTVGGPLLLEVIRRCQQKEKGPTTGEGALDLSDVHSPPKSPEGKTSAQTTPSKANDEANQSDTSVSLSEPKSKSSLHLLSHETKIGSFLSNRTLDGKDKAGLCPDEDDMEGDSFFDDPIPKPEKTYGLRKEPRKQAGSLASLSDAPPLKSGLSSLAGAPSLKDSESKRGNTVLKDLKLISDKIGSLGLGTGEDDDYVDDFNSTSHRSEKSEISIGEEIEEDLSVEIDDINTSDKLDDLTQDLTVSQLSDVADYLEDVA", "length": 378, "header": "tr|A0A994J7D3-1|CEP43_HUMAN Computationally mapped isoform of Centrosomal protein 43 OS=Homo sapiens OX=9606 GN=CEP43 PE=1 SV=1 CANONICAL=O95684-1" }, "locus": { "chromosome": "6", "start_pos": 167039975, "end_pos": 166999413, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000705242.1", "url": "https://www.ensembl.org/id/ENST00000705242.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000516100.1", "url": "https://www.ensembl.org/id/ENSP00000516100.1" } ] } }, { "isoform_ac": "A0A994J7Q3-1", "url": "", "sequence": { "sequence": "MEGDSFFDDPIPKPEKTYGLRKEPRKQAGSLASLSDAPPLKSGLSSLAGAPSLKDSESKRGNTVLKDLKLISDKIGSLGLGTGEDDDYVDDFNSTSHRSEKSEISIGEEIEEDLSVEIDDINTSDKLDDLTQDLTVSQLSDVADYLEDVA", "length": 150, "header": "tr|A0A994J7Q3-1|CEP43_HUMAN Computationally mapped isoform of Centrosomal protein 43 OS=Homo sapiens OX=9606 GN=CEP43 PE=1 SV=1 CANONICAL=O95684-1" }, "locus": { "chromosome": "6", "start_pos": 167039975, "end_pos": 167022577, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000705168.1", "url": "https://www.ensembl.org/id/ENST00000705168.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000516071.1", "url": "https://www.ensembl.org/id/ENSP00000516071.1" } ] } }, { "isoform_ac": "A0A994J7Q7-1", "url": "", "sequence": { "sequence": "MAATAAAVVAEEDTELRDLLVQTLENSGVLNRIKAELRAAVFLALEEQEKVENKTPLVNESLKKFLNTKDGRLVASLVAEFLQFFNLDFTLAVFQPETSTLQGLEGRENLARDLGIIEAEGTVGGPLLLEVIRRCQQKEKGPTTGEGALDLSDVHSPPKSPEGKTSAQTTPSKIPRYKGQGKKKTSGQKAGDKDASSITWKPFSLYISDLVSELPCEKSVLYPMWPIASLTYMDAMLHVVVEVVHSKTPDGAIRMKANDEANQSDTSVSLSEPKSKSSLHLLSHETKIGSFLSNRTLDGKDKAGLCPDEDDMEGDSFFDDPIPKPEKTYGLRKEPRKQAGSLASLSDAPPLKSGLSSLAGAPSLKDSESKRGNTVLKDLKLISDKIGSLGLGTGEDDDYVDDFNSTSHRSEKSEISIGEEIEEDLSVEIDDINTSDKLDDLTQDLTVSQLSDVADYLEDVA", "length": 461, "header": "tr|A0A994J7Q7-1|CEP43_HUMAN Computationally mapped isoform of Centrosomal protein 43 OS=Homo sapiens OX=9606 GN=CEP43 PE=1 SV=1 CANONICAL=O95684-1" }, "locus": { "chromosome": "6", "start_pos": 167039975, "end_pos": 166999413, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000705176.1", "url": "https://www.ensembl.org/id/ENST00000705176.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000516078.1", "url": "https://www.ensembl.org/id/ENSP00000516078.1" } ] } }, { "isoform_ac": "A0A994J7R7-1", "url": "", "sequence": { "sequence": "MAATAAAVVAEEDTELRDLLVQTLENSGVLNRIKAELRAAVFLALEEQEKVENKTPLVNESLKKFLNTKDGRLVASLVAEFLQFFNLDFTLAVFQPETSTLQGLEGRENLARDLGIIEAEGTVGGPLLLEVIRRCQQKEKGPTTGEGALDLSDVHSPPKSPEGKTSAQTTPSKIPRYKGQGKKKTSGQKAGDKKANDEANQSDTSVSLSEPKSKSSLHLLSHETKIGSFLSNRTLDGKDKAGLCPDEDDMEGDSFFDDPIPKPEKTYGLRKEPRKQAGSLASLSDAPPLKSGLSSLAGAPSLKDSERTGEDDDYVDDFNSTSHRSEKSEISIGEEIEEDLSVEIDDINTSDKLDDLTQDLTVSQLSDVADYLEDVA", "length": 376, "header": "tr|A0A994J7R7-1|CEP43_HUMAN Computationally mapped isoform of Centrosomal protein 43 OS=Homo sapiens OX=9606 GN=CEP43 PE=1 SV=1 CANONICAL=O95684-1" }, "locus": { "chromosome": "6", "start_pos": 167039975, "end_pos": 166999413, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000705235.1", "url": "https://www.ensembl.org/id/ENST00000705235.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000516093.1", "url": "https://www.ensembl.org/id/ENSP00000516093.1" } ] } }, { "isoform_ac": "A0A994J7S1-1", "url": "", "sequence": { "sequence": "MAATAAAVVAEEDTELRDLLVQTLENSGVLNRIKAELRAAVFLALEEQEKVENKTPLVNESLKKFLNTKDGRLVASLVAEFLQFFNLDFTLAVFQPETSTVSKVERI", "length": 107, "header": "tr|A0A994J7S1-1|CEP43_HUMAN Computationally mapped isoform of Centrosomal protein 43 OS=Homo sapiens OX=9606 GN=CEP43 PE=1 SV=1 CANONICAL=O95684-1" }, "locus": { "chromosome": "6", "start_pos": 167004291, "end_pos": 166999413, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000705240.1", "url": "https://www.ensembl.org/id/ENST00000705240.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000516098.1", "url": "https://www.ensembl.org/id/ENSP00000516098.1" } ] } }, { "isoform_ac": "A0A994J7S5-1", "url": "", "sequence": { "sequence": "MAATAAAVVAEEDTELRDLLVQTLENSGVLNRIKAELRAAVFLALEEQEKVENKTPLVNESLKKFLNTKDAARSRRSREFSPRFRYN", "length": 87, "header": "tr|A0A994J7S5-1|CEP43_HUMAN Computationally mapped isoform of Centrosomal protein 43 OS=Homo sapiens OX=9606 GN=CEP43 PE=1 SV=1 CANONICAL=O95684-1" }, "locus": { "chromosome": "6", "start_pos": 167004313, "end_pos": 166999413, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000705177.1", "url": "https://www.ensembl.org/id/ENST00000705177.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000516079.1", "url": "https://www.ensembl.org/id/ENSP00000516079.1" } ] } }, { "isoform_ac": "O95684-1", "url": "", "sequence": { "sequence": "MAATAAAVVAEEDTELRDLLVQTLENSGVLNRIKAELRAAVFLALEEQEKVENKTPLVNESLKKFLNTKDGRLVASLVAEFLQFFNLDFTLAVFQPETSTLQGLEGRENLARDLGIIEAEGTVGGPLLLEVIRRCQQKEKGPTTGEGALDLSDVHSPPKSPEGKTSAQTTPSKIPRYKGQGKKKTSGQKAGDKKANDEANQSDTSVSLSEPKSKSSLHLLSHETKIGSFLSNRTLDGKDKAGLCPDEDDMEGDSFFDDPIPKPEKTYGLRKEPRKQAGSLASLSDAPPLKSGLSSLAGAPSLKDSESKRGNTVLKDLKLISDKIGSLGLGTGEDDDYVDDFNSTSHRSEKSEISIGEEIEEDLSVEIDDINTSDKLDDLTQDLTVSQLSDVADYLEDVA", "length": 399, "header": "sp|O95684-1|CEP43_HUMAN Isoform 1 of Centrosomal protein 43 OS=Homo sapiens OX=9606 GN=CEP43 PE=1 SV=1 CANONICAL=O95684-1" }, "locus": { "chromosome": "6", "start_pos": 167039975, "end_pos": 166999413, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000366847.9", "url": "https://www.ensembl.org/id/ENST00000366847.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000355812.3", "url": "https://www.ensembl.org/id/ENSP00000355812.3" } ] } }, { "isoform_ac": "O95684-2", "url": "", "sequence": { "sequence": "MAATAAAVVAEEDTELRDLLVQTLENSGVLNRIKAELRAAVFLALEEQEKVENKTPLVNESLKKFLNTKDGRLVASLVAEFLQFFNLDFTLAVFQPETSTLQGLEGRENLARDLGIIEAEGTVGGPLLLEVIRRCQQKEKGPTTGEGALDLSDVHSPPKSPEGKTSAQTTPSKKANDEANQSDTSVSLSEPKSKSSLHLLSHETKIGSFLSNRTLDGKDKAGLCPDEDDMEGDSFFDDPIPKPEKTYGLRKEPRKQAGSLASLSDAPPLKSGLSSLAGAPSLKDSESKRGNTVLKDLKLISDKIGSLGLGTGEDDDYVDDFNSTSHRSEKSEISIGEEIEEDLSVEIDDINTSDKLDDLTQDLTVSQLSDVADYLEDVA", "length": 379, "header": "sp|O95684-2|CEP43_HUMAN Isoform 2 of Centrosomal protein 43 OS=Homo sapiens OX=9606 GN=CEP43 PE=1 SV=1 CANONICAL=O95684-1" }, "locus": { "chromosome": "6", "start_pos": 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"kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O95684", "url": "https://www.uniprot.org/uniprot/O95684" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "O95684", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95684" } ], "site_lbl": "Ser326" }, { "start_pos": 337, "end_pos": 337, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "Phosphotyrosine", "evidence": [ { "database": "UniProtKB", "id": "O95684", "url": "https://www.uniprot.org/uniprot/O95684" } ], "site_lbl": "Tyr337" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Characterization of FIM-FGFR1, the fusion product of the myeloproliferative disorder-associated t(8;13) translocation.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Ollendorff V, Guasch G, Isnardon D, Galindo R, Birnbaum D, Pebusque MJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-1839117", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1839117" } ], "reference": [ { "type": "PubMed", "id": "10480903", "url": "https://glygen.org/publication/PubMed/10480903" } ] }, { "title": "Phospholipase C-gamma as a signal-transducing element.", "journal": "Experimental cell research", "date": "1999", "authors": "Carpenter G, Ji Qs", "evidence": [ { "database": "Reactome", "id": "R-HSA-5655302", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5655302" } ], "reference": [ { "type": "PubMed", "id": "10579907", "url": "https://glygen.org/publication/PubMed/10579907" } ] }, { "title": "Tyrosine 766 in the fibroblast growth factor receptor-1 is required for FGF-stimulation of phospholipase C, phospholipase D, phospholipase A(2), phosphoinositide 3-kinase and cytoskeletal reorganisation in porcine aortic endothelial cells.", "journal": "Journal of cell science", "date": "2000", "authors": "Cross MJ, Hodgkin MN, Roberts S, Landgren E, Wakelam MJ, Claesson-Welsh L", "evidence": [ { "database": "Reactome", "id": "R-HSA-5655302", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5655302" } ], "reference": [ { "type": "PubMed", "id": "10652257", "url": "https://glygen.org/publication/PubMed/10652257" } ] }, { "title": "FGFR1 is fused to the centrosome-associated protein CEP110 in the 8p12 stem cell myeloproliferative disorder with t(8;9)(p12;q33).", "journal": "Blood", "date": "2000", "authors": "Guasch G, Mack GJ, Popovici C, Dastugue N, Birnbaum D, Rattner JB, Pebusque MJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-1839117", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1839117" } ], "reference": [ { "type": "PubMed", "id": "10688839", "url": "https://glygen.org/publication/PubMed/10688839" } ] }, { "title": "ZNF198-FGFR1 transforming activity depends on a novel proline-rich ZNF198 oligomerization domain.", "journal": "Blood", "date": "2000", "authors": "Xiao S, McCarthy JG, Aster JC, Fletcher JA", "evidence": [ { "database": "Reactome", "id": "R-HSA-1839117", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1839117" } ], "reference": [ { "type": "PubMed", "id": "10887137", "url": "https://glygen.org/publication/PubMed/10887137" } ] }, { "title": "Transformation and Stat activation by derivatives of FGFR1, FGFR3, and FGFR4.", "journal": "Oncogene", "date": "2000", "authors": "Hart KC, Robertson SC, Kanemitsu MY, Meyer AN, Tynan JA, Donoghue DJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-5655302", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5655302" } ], "reference": [ { "type": "PubMed", "id": "10918587", "url": "https://glygen.org/publication/PubMed/10918587" } ] }, { "title": "ZNF198-FGFR1 transforms Ba/F3 cells to growth factor independence and results in high level tyrosine phosphorylation of STATS 1 and 5.", "journal": "Neoplasia (New York, N.Y.)", "date": "1999", "authors": "Smedley D, Demiroglu A, Abdul-Rauf M, Heath C, Cooper C, Shipley J, Cross NC", "evidence": [ { "database": "Reactome", "id": "R-HSA-1839117", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1839117" } ], "reference": [ { "type": "PubMed", "id": "10935490", "url": "https://glygen.org/publication/PubMed/10935490" } ] }, { "title": "The centrosomal protein C-Nap1 is required for cell cycle-regulated centrosome cohesion.", "journal": "The Journal of cell biology", "date": "2000", "authors": "Mayor T, Stierhof YD, Tanaka K, Fry AM, Nigg EA", "evidence": [ { "database": "Reactome", "id": "R-HSA-380284", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-380284" } ], "reference": [ { "type": "PubMed", "id": "11076968", "url": "https://glygen.org/publication/PubMed/11076968" } ] }, { "title": "Activated fibroblast growth factor receptor 3 is an oncogene that contributes to tumor progression in multiple myeloma.", "journal": "Blood", "date": "2001", "authors": "Chesi M, Brents LA, Ely SA, Bais C, Robbiani DF, Mesri EA, Kuehl WM, Bergsagel PL", "evidence": [ { "database": "Reactome", "id": "R-HSA-5655302", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5655302" } ], "reference": [ { "type": "PubMed", "id": "11157491", "url": "https://glygen.org/publication/PubMed/11157491" } ] }, { "title": "Deregulated FGFR3 mutants in multiple myeloma cell lines with t(4;14): comparative analysis of Y373C, K650E and the novel G384D mutations.", "journal": "Oncogene", "date": "2001", "authors": "Ronchetti D, Greco A, Compasso S, Colombo G, Dell'Era P, Otsuki T, Lombardi L, Neri A", "evidence": [ { "database": "Reactome", "id": "R-HSA-5655302", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5655302" } ], "reference": [ { "type": "PubMed", "id": "11429702", "url": "https://glygen.org/publication/PubMed/11429702" } ] }, { "title": "8p12 stem cell myeloproliferative disorder: the FOP-fibroblast growth factor receptor 1 fusion protein of the t(6;8) translocation induces cell survival mediated by mitogen-activated protein kinase and phosphatidylinositol 3-kinase/Akt/mTOR pathways.", "journal": "Molecular and cellular biology", "date": "2001", "authors": "Guasch G, Ollendorff V, Borg JP, Birnbaum D, Pebusque MJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-1839117", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1839117" } ], "reference": [ { "type": "PubMed", "id": "11689702", "url": "https://glygen.org/publication/PubMed/11689702" } ] }, { "title": "The t(8;22) in chronic myeloid leukemia fuses BCR to FGFR1: transforming activity and specific inhibition of FGFR1 fusion proteins.", "journal": "Blood", "date": "2001", "authors": "Demiroglu A, Steer EJ, Heath C, Taylor K, Bentley M, Allen SL, Koduru P, Brody JP, Hawson G, Rodwell R, Doody ML, Carnicero F, Reiter A, Goldman JM, Melo JV, Cross NC", "evidence": [ { "database": "Reactome", "id": 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