{ "uniprot_canonical_ac": "O43602-1", "uniprot_ac": "O43602", "uniprot_id": "DCX_HUMAN", "mass": { "chemical_mass": 40574.0, "monoisotopic_mass": 40574.0 }, "refseq": { "ac": "NP_001182482", "name": "neuronal migration protein doublecortin isoform d", "summary": "This gene encodes a member of the doublecortin family. The protein encoded by this gene is a cytoplasmic protein and contains two doublecortin domains, which bind microtubules. In the developing cortex, cortical neurons must migrate over long distances to reach the site of their final differentiation. The encoded protein appears to direct neuronal migration by regulating the organization and stability of microtubules. In addition, the encoded protein interacts with LIS1, the regulatory gamma subunit of platelet activating factor acetylhydrolase, and this interaction is important to proper microtubule function in the developing cortex. Mutations in this gene cause abnormal migration of neurons during development and disrupt the layering of the cortex, leading to epilepsy, cognitive disability, subcortical band heterotopia ('double cortex' syndrome) in females and lissencephaly ('smooth brain' syndrome) in males. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2010].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001182482" }, "gene_names": [ { "name": "DCX", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O43602", "id": "O43602" }, { "name": "DBCN; DC; LISX; SCLH; XLIS", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001182482", "id": "NP_001182482" }, { "name": "DBCN", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O43602", "id": "O43602" }, { "name": "DCX", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001182482", "id": "NP_001182482" }, { "name": "LISX", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O43602", "id": "O43602" } ], "protein_names": [ { "name": "Neuronal migration protein doublecortin", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O43602" }, { "name": "Doublin", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43602" }, { "name": "Lis-X", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43602" }, { "name": "Lissencephalin-X", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43602" }, { "name": "doublecortex; doublin; lissencephalin-X; neuronal migration protein doublecortin; lis-X", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000546", "id": "NP_000546" }, { "name": "neuronal migration protein doublecortin isoform a", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000546", "id": "NP_000546" }, { "name": "neuronal migration protein doublecortin isoform d", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001182482", "id": "NP_001182482" } ], "function": [ { "annotation": "Doublecortin undergo nucleocytoplasmic transport via the RanGTPase signaling to promote glioma progression. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000546", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000546" }, { "database": "PubMed", "id": "32050972", "url": "https://glygen.org/publication/PubMed/32050972" }, { "database": "RefSeq", "id": "NP_001182482", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001182482" } ] }, { "annotation": "Microtubule-associated protein required for initial steps of neuronal dispersion and cortex lamination during cerebral cortex development. May act by competing with the putative neuronal protein kinase DCLK1 in binding to a target protein. May in that way participate in a signaling pathway that is crucial for neuronal interaction before and during migration, possibly as part of a calcium ion-dependent signal transduction pathway. May be part with PAFAH1B1/LIS-1 of overlapping, but distinct, signaling pathways that promote neuronal migration.", "evidence": [ { "database": "UniProtKB", "id": "O43602", "url": "https://www.uniprot.org/uniprot/O43602#function" }, { "database": "PubMed", "id": "22359282", "url": "https://glygen.org/publication/PubMed/22359282" } ] }, { "annotation": "Novel lissencephaly-associated DCX variants in the C-terminal DCX domain affect microtubule binding and dynamics.", "evidence": [ { "database": "RefSeq", "id": "NP_000546", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000546" }, { "database": "PubMed", "id": "35213059", "url": "https://glygen.org/publication/PubMed/35213059" }, { "database": "RefSeq", "id": "NP_001182482", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001182482" } ] }, { "annotation": "Phosphorylation of dublecortin X (DCX) serine 28 (S28) plays a critical role in DCX association with the cytoskeleton in human neuroblastoma cells.", "evidence": [ { "database": "RefSeq", "id": "NP_000546", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000546" }, { "database": "PubMed", "id": "30625347", "url": "https://glygen.org/publication/PubMed/30625347" }, { "database": "RefSeq", "id": "NP_001182482", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001182482" } ] }, { "annotation": "Study shows the DCX E2K mutant protein retains the ability to interact with and bundle microtubules (MT)s, but these MTs show a reduced sensitivity to nocodazole-induced depolymerization as well as slower alpha-tubulin exchange rates. Also shows increased association of DCX E2K mutant with the actin filament (F-ACT) network.", "evidence": [ { "database": "RefSeq", "id": "NP_000546", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000546" }, { "database": "PubMed", "id": "30979500", "url": "https://glygen.org/publication/PubMed/30979500" }, { "database": "RefSeq", "id": "NP_001182482", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001182482" } ] }, { "annotation": "This gene encodes a member of the doublecortin family. The protein encoded by this gene is a cytoplasmic protein and contains two doublecortin domains, which bind microtubules. In the developing cortex, cortical neurons must migrate over long distances to reach the site of their final differentiation. The encoded protein appears to direct neuronal migration by regulating the organization and stability of microtubules. In addition, the encoded protein interacts with LIS1, the regulatory gamma subunit of platelet activating factor acetylhydrolase, and this interaction is important to proper microtubule function in the developing cortex. Mutations in this gene cause abnormal migration of neurons during development and disrupt the layering of the cortex, leading to epilepsy, cognitive disability, subcortical band heterotopia ('double cortex' syndrome) in females and lissencephaly ('smooth brain' syndrome) in males. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2010].", "evidence": [ { "database": "RefSeq", "id": "NP_000546", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000546" }, { "database": "RefSeq", "id": "NP_001182482", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001182482" } ] } ], "disease": [ { "disease_id": "DOID:0112239", "recommended_name": { "id": "DOID:0112239", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112239", "name": "X-linked lissencephaly 1", "description": "A lissencephaly characterized by classic lissencephaly and intellectual disability in males that has_material_basis_in mutation in DCX on chromosome Xq23." }, "synonyms": [ { "id": "DOID:0112239", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112239", "name": "XLIS1", "description": "" }, { "id": "DOID:0112239", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112239", "name": "lissencephaly type 1 due to doublecortin gene mutation", "description": "" }, { "id": "MONDO:0010239", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010239", "name": "lissencephaly type 1 due to doublecortin gene mutation", "description": "Type 1 lissencephaly due to doublecortin (DCX) gene mutations is a semi-dominant X-linked disease characterized by intellectual deficiency and seizures that are more severe in male patients." }, { "id": "MONDO:0010239", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010239", "name": "X-linked lissencephaly type 1", "description": "" }, { "id": "MONDO:0010239", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010239", "name": "lissencephaly type 1 due to doublecortin gene mutation", "description": "" }, { "id": "MONDO:0010239", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010239", "name": "lissencephaly, X-linked", "description": "" }, { "id": "MONDO:0010239", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010239", "name": "lissencephaly, X-linked, type 1", "description": "" }, { "id": "MONDO:0010239", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010239", "name": "subcortical laminal heterotopia, X-linked", "description": "" }, { "id": "MONDO:0010239", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010239", "name": "Dc syndrome", "description": "" }, { "id": "MONDO:0010239", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010239", "name": "Double cortex syndrome", "description": "" }, { "id": "MONDO:0010239", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010239", "name": "LISX", "description": "" }, { "id": "MONDO:0010239", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010239", "name": "LISX1", "description": "" }, { "id": "MONDO:0010239", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010239", "name": "X-linked lissencephaly", "description": "" }, { "id": "MONDO:0010239", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010239", "name": "XLIS", "description": "" }, { "id": "MONDO:0010239", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010239", "name": "Xlis", "description": "" }, { "id": "MONDO:0010239", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010239", "name": "lissencephaly X-linked", "description": "" }, { "id": "MONDO:0010239", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010239", "name": "lissencephaly and agenesis of corpus callosum", "description": "" }, { "id": "MONDO:0010239", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010239", "name": "lissencephaly, X-linked, 1", "description": "" }, { "id": "MONDO:0010239", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010239", "name": "subcortical band heterotopia, X-linked", "description": "" }, { "id": "MONDO:0010239", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010239", "name": "subcortical laminar heterotopia, X-linked", "description": "" }, { "id": "MONDO:0010239", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010239", "name": "subcortical laminar heterotopia, X-linked,", "description": "" }, { "id": "MIM:300067", "resource": "MIM", "url": "https://www.omim.org/entry/300067", "name": "Subcortical band heterotopia X-linked", "description": "Subcortical band heterotopia X-linked" } ], "evidence": [ { "id": "300067", "database": "MIM", "url": "https://www.omim.org/entry/300067" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "47.3", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000077279", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000077279" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "41.27", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000077279", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000077279" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "47.46", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000077279", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000077279" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "49.96", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000077279", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000077279" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "45.81", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000077279", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000077279" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "49.45", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000077279", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000077279" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "47.76", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000077279", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000077279" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "38.99", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000077279", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000077279" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "33.05", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000077279", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000077279" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "47.6", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000077279", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000077279" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "37.05", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000077279", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000077279" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "36.39", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000077279", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000077279" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "46.13", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000077279", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000077279" } ] } ], "expression_disease": [ { "significant": "No", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O43602", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43602" } ], "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, 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"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", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "No", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O43602", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43602" } ], "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 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"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", 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43602" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "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": "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": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "O43602", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43602" } ], "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O43602", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43602" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "O43602", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43602" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "O43602", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43602" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "O43602", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43602" } ], "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": 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"http://www.orthodb.org/?query=2956627at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR23005", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR23005", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR23005:SF4", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR23005:SF4", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "1MJD", "url": "https://www.rcsb.org/structure/1MJD", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "2BQQ", "url": "https://www.rcsb.org/structure/2BQQ", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "2XRP", "url": "https://www.rcsb.org/structure/2XRP", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4ATU", "url": "https://www.rcsb.org/structure/4ATU", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5IKC", "url": "https://www.rcsb.org/structure/5IKC", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5IN7", "url": "https://www.rcsb.org/structure/5IN7", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5IO9", "url": "https://www.rcsb.org/structure/5IO9", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5IOI", "url": "https://www.rcsb.org/structure/5IOI", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5IP4", "url": "https://www.rcsb.org/structure/5IP4", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6FNZ", "url": "https://www.rcsb.org/structure/6FNZ", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6REV", "url": "https://www.rcsb.org/structure/6REV", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6RF2", "url": "https://www.rcsb.org/structure/6RF2", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6RF8", "url": "https://www.rcsb.org/structure/6RF8", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6RFD", "url": "https://www.rcsb.org/structure/6RFD", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF03607", "url": "http://pfam.xfam.org/family/PF03607", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O43602", "url": "https://pharos.nih.gov/targets/O43602", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O43602", "url": "http://purl.obolibrary.org/obo/PR_O43602", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-447043", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-447043", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_000546", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000546", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "A0A1B0GWD1", "url": "https://www.uniprot.org/uniprot/A0A1B0GWD1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A1B0GWD1-1", "url": "https://www.uniprot.org/uniprot/A0A1B0GWD1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7P0T9C5", "url": "https://www.uniprot.org/uniprot/A0A7P0T9C5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7P0T9C5-1", "url": "https://www.uniprot.org/uniprot/A0A7P0T9C5-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A804CF28", "url": "https://www.uniprot.org/uniprot/A0A804CF28", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A804CF28-1", "url": "https://www.uniprot.org/uniprot/A0A804CF28-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A9L9PYE1", "url": "https://www.uniprot.org/uniprot/A0A9L9PYE1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A9L9PYE1-1", "url": "https://www.uniprot.org/uniprot/A0A9L9PYE1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A8K340", "url": "https://www.uniprot.org/uniprot/A8K340", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A8K340-1", "url": "https://www.uniprot.org/uniprot/A8K340-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E7EU50", "url": "https://www.uniprot.org/uniprot/E7EU50", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E7EU50-1", "url": "https://www.uniprot.org/uniprot/E7EU50-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O43602", "url": "https://www.uniprot.org/uniprot/O43602", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O43602-1", "url": "https://www.uniprot.org/uniprot/O43602-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O43602-2", "url": "https://www.uniprot.org/uniprot/O43602-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MELDFGHFDERDKTSRNMRGSRMNGLPSPTHSAHCSFYRTRTLQALSNEKKAKKVRFYRNGDRYFKGIVYAVSSDRFRSFDALLADLTRSLSDNINLPQGVRYIYTIDGSRKIGSMDELEEGESYVCSSDNFFKKVEYTKNVNPNWSVNVKTSANMKAPQSLASSNSAQARENKDFVRPKLVTIIRSGVKPRKAVRVLLNKKTAHSFEQVLTDITEAIKLETGVVKKLYTLDGKQVTCLHDFFGDDDVFIACGPEKFRYAQDDFSLDENECRVMKGNPSATAGPKASPTPQKTSAKSPGPMRRSKSPADSGNDQDANGTSSSQLSTPKSKQSPISTPTSPGSLRKHKDLYLPLSLDDSDSLGDSM", "length": 365, "header": "sp|O43602-1|DCX_HUMAN Isoform 1 of Neuronal migration protein doublecortin OS=Homo sapiens OX=9606 GN=DCX PE=1 SV=4 CANONICAL=O43602-1" }, "isoforms": [ { "isoform_ac": "A0A1B0GWD1-1", "url": "", "sequence": { "sequence": "MELDFGHFDERDKTSRNMRGSRMNGLPSPTHSAHCSFYRTRTLQALSNEKKAKKVRFYRNGDRYFKGIVYAVSSDRFRSFDALLADLTRSLSDNINLPQGVRYIYTIDGSRKIGSMDELEEGESYVCSSDNFFKKVEYTKNVNPNWSVNVKTSANMKAPQSLASSNSAQARENKDFVRPKLVTIIRSGVKPRKAVRVLLNKKTAHSFEQVLTDITEAIKLETGVVKKLYTLDGKQVTCLHDFFGDDDVFIACGPEKFRYAQDDFSLDENECRVMKGNPSATAGPKASPTPQKTSAKSPGPMRRSKSPADSANGTSSSQLSTPKSKQSPISTPTSPGSLRKHKVDLYLPLSLDDSDSLGDSM", "length": 361, "header": "tr|A0A1B0GWD1-1|DCX_HUMAN Computationally mapped isoform of Neuronal migration protein doublecortin OS=Homo sapiens OX=9606 GN=DCX PE=1 SV=1 CANONICAL=O43602-1" }, "locus": { "chromosome": "X", "start_pos": 111410398, "end_pos": 111301690, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000637570.1", "url": "https://www.ensembl.org/id/ENST00000637570.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000490878.1", "url": "https://www.ensembl.org/id/ENSP00000490878.1" } ] } }, { "isoform_ac": "A0A7P0T9C5-1", "url": "", "sequence": { "sequence": "MELDFGHFDERDKTSRNMRGSRMNGLPSPTHSAHCSFYRTRTLQALSNEKKAKKVRFYRNGDRYFKGIVYAVSSDRFRSFDALLADLTRSLSDNINLPQGVRYIYTIDGSRKIGSMDELEEGESYVCSSDNFFKKVEYTKNVNPNWSVNVKTSANMKAPQSLASSNSAQARENKDFVRPKLVTIIRSGVKPRKAVRVLLNKKTAHSFEQVLTDITEAIKLETGVVKKLYTLDGKQVTCLHDFFGDDDVFIACGPEKFRYAQDDFSLDENECRVMKGNPSATAGPKASPTPQKTSAKSPGPMRRSKSPADSGNDQDGPVPASVLG", "length": 324, "header": "tr|A0A7P0T9C5-1|DCX_HUMAN Computationally mapped isoform of Neuronal migration protein doublecortin OS=Homo sapiens OX=9606 GN=DCX PE=1 SV=1 CANONICAL=O43602-1" }, "locus": { "chromosome": "X", "start_pos": 111410398, "end_pos": 111301718, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000680476.1", "url": "https://www.ensembl.org/id/ENST00000680476.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000505501.1", "url": "https://www.ensembl.org/id/ENSP00000505501.1" } ] } }, { "isoform_ac": "A0A804CF28-1", "url": "", "sequence": { "sequence": "MELDFGHFDERDKTSRNMRGSRMNGLPSPTHSAHCSFYRTRTLQALSNEKKAKKVRFYRNGDRYFKGIVYAVSSDRFRSFDALLADLTRSLSDNINLPQGVRYIYTIDGSRKIGSMDELEEGESYVCSSDNFFKKVEYTKNVNPNWSVNVKTSANMKAPQSLASSNSAQARENKDFVRPKLVTIIRSGVKPRKAVRVLLNKKTAHSFEQVLTDITEAIKLETGVVKKLYTLDGKQVTCLHDFFGDDDVFIACGPEKFRYAQDDFSLDENECRVMKGNPSATAGPKASPTPQKTSAKSPGPMRRSKSPADSGPVPASVLG", "length": 319, "header": "tr|A0A804CF28-1|DCX_HUMAN Computationally mapped isoform of Neuronal migration protein doublecortin OS=Homo sapiens OX=9606 GN=DCX PE=1 SV=1 CANONICAL=O43602-1" }, "locus": { "chromosome": "X", "start_pos": 111410398, "end_pos": 111301718, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000371993.7", "url": "https://www.ensembl.org/id/ENST00000371993.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000361061.3", "url": "https://www.ensembl.org/id/ENSP00000361061.3" } ] } }, { "isoform_ac": "A0A9L9PYE1-1", "url": "", "sequence": { "sequence": "MELDFGHFDERDKTSRNMRGSRMNGLPSPTHSAHCSFYRTRTLQALSNEKKAKKVRFYRNGDRYFKGIVYAVSSDRFRSFDALLADLTRSLSDNINLPQGVRYIYTIDGSRKIGSMDELEE", "length": 121, "header": "tr|A0A9L9PYE1-1|DCX_HUMAN Computationally mapped isoform of Neuronal migration protein doublecortin OS=Homo sapiens OX=9606 GN=DCX PE=1 SV=1 CANONICAL=O43602-1" }, "locus": {} }, { "isoform_ac": "A8K340-1", "url": "", "sequence": { "sequence": "MELDFGHFDERDKTSRNMRGSRMNGLPSPTHSAHCSFYRTRTLQALSNEKKAKKVRFYRNGDRYFKGIVYAVSSDRFRSFDALLADLTRSLSDNINLPQGVRYIYTIDGSRKIGSMDELEEGESYVCSSDNFFKKVEYTKNVNPNWSVNVKTSANMKAPQSLASSNSAQARENKDFVRPKLVTIIRSGVKPRKAVRVLLNKKTAHSFEQVLTDITEAIKLETGVVKKLYTLDGKQVTCLHDFFGDDDVFIACGPEKFRYAQDDFSLDENECRVMKGNPSATAGPKASPTPQKTSAKSPGPMRRSKSPADSGNDQDANGTSSSQLSTPKSKQSPISTPTSPGSLRKHKVDLYLPLSLDDSDSLGDSM", "length": 366, "header": "tr|A8K340-1|DCX_HUMAN Computationally mapped isoform of Neuronal migration protein doublecortin OS=Homo sapiens OX=9606 GN=DCX PE=1 SV=1 CANONICAL=O43602-1" }, "locus": { "chromosome": "X", "start_pos": 111410398, "end_pos": 111301690, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000636035.2", "url": "https://www.ensembl.org/id/ENST00000636035.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000490614.1", "url": "https://www.ensembl.org/id/ENSP00000490614.1" } ] } }, { "isoform_ac": "E7EU50-1", "url": "", "sequence": { "sequence": "MELDFGHFDERDKTSRNMRGSRMNGLPSPTHSAHCSFYRTRTLQALSNEKKAKKVRFYRNGDRYFKGIVYAVSSDRFRSFDALLADLTRSLSDNINLPQGVRYIYTIDGSRKIGSMDELEEGESYVCSSDNFFKKVEYTKNVNPNWSVNVKTSANMKAPQSLASSNSAQARENKDFVRPKLVTIIRSGVKPRKAVRVLLNKKTAHSFEQVLTDITEAIKLETGVVKKLYTLDGKQVTCLHDFFGDDDVFIACGPEKFRYAQDDFSLDENECRVMKGNPSATAGPKASPTPQKTSAKSPGPMRRSKSPADS", "length": 310, "header": "tr|E7EU50-1|DCX_HUMAN Computationally mapped isoform of Neuronal migration protein doublecortin OS=Homo sapiens OX=9606 GN=DCX PE=1 SV=2 CANONICAL=O43602-1" }, "locus": { "chromosome": "X", "start_pos": 111410398, "end_pos": 111330920, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000636381.2", "url": "https://www.ensembl.org/id/ENST00000636381.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000490068.2", "url": "https://www.ensembl.org/id/ENSP00000490068.2" } ] } }, { "isoform_ac": "O43602-1", "url": "", "sequence": { "sequence": "MELDFGHFDERDKTSRNMRGSRMNGLPSPTHSAHCSFYRTRTLQALSNEKKAKKVRFYRNGDRYFKGIVYAVSSDRFRSFDALLADLTRSLSDNINLPQGVRYIYTIDGSRKIGSMDELEEGESYVCSSDNFFKKVEYTKNVNPNWSVNVKTSANMKAPQSLASSNSAQARENKDFVRPKLVTIIRSGVKPRKAVRVLLNKKTAHSFEQVLTDITEAIKLETGVVKKLYTLDGKQVTCLHDFFGDDDVFIACGPEKFRYAQDDFSLDENECRVMKGNPSATAGPKASPTPQKTSAKSPGPMRRSKSPADSGNDQDANGTSSSQLSTPKSKQSPISTPTSPGSLRKHKDLYLPLSLDDSDSLGDSM", "length": 365, "header": "sp|O43602-1|DCX_HUMAN Isoform 1 of Neuronal migration protein doublecortin OS=Homo sapiens OX=9606 GN=DCX PE=1 SV=4 CANONICAL=O43602-1" }, "locus": { "chromosome": "X", "start_pos": 111410398, "end_pos": 111301690, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000635795.1", "url": "https://www.ensembl.org/id/ENST00000635795.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000489635.1", "url": "https://www.ensembl.org/id/ENSP00000489635.1" } ] } }, { "isoform_ac": "O43602-2", "url": "", "sequence": { "sequence": "MELDFGHFDERDKTSRNMRGSRMNGLPSPTHSAHCSFYRTRTLQALSNEKKAKKVRFYRNGDRYFKGIVYAVSSDRFRSFDALLADLTRSLSDNINLPQGVRYIYTIDGSRKIGSMDELEEGESYVCSSDNFFKKVEYTKNVNPNWSVNVKTSANMKAPQSLASSNSAQARENKDFVRPKLVTIIRSGVKPRKAVRVLLNKKTAHSFEQVLTDITEAIKLETGVVKKLYTLDGKQVTCLHDFFGDDDVFIACGPEKFRYAQDDFSLDENECRVMKGNPSATAGPKASPTPQKTSAKSPGPMRRSKSPADSANGTSSSQLSTPKSKQSPISTPTSPGSLRKHKDLYLPLSLDDSDSLGDSM", "length": 360, "header": "sp|O43602-2|DCX_HUMAN Isoform 2 of Neuronal migration protein doublecortin OS=Homo sapiens OX=9606 GN=DCX PE=1 SV=4 CANONICAL=O43602-1" }, "locus": { "chromosome": "X", "start_pos": 111410398, "end_pos": 111301690, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000488120.2", "url": "https://www.ensembl.org/id/ENST00000488120.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000419861.1", "url": "https://www.ensembl.org/id/ENSP00000419861.1" } ] } } ], "glycosylation": [], "phosphorylation": [ { "start_pos": 110, "end_pos": 110, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine; by PKC", "evidence": [ { "database": "UniProtKB", "id": "O43602", "url": "https://www.uniprot.org/uniprot/O43602" } ], "site_lbl": "Ser110" }, { "start_pos": 115, "end_pos": 115, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine; by CK2, MARK1 and PKA", "evidence": [ { "database": "UniProtKB", "id": "O43602", "url": "https://www.uniprot.org/uniprot/O43602" } ], "site_lbl": "Ser115" }, { "start_pos": 128, "end_pos": 128, "kinase_uniprot_canonical_ac": "P17612-1", "kinase_gene_name": "PRKACA", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O43602", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43602" }, { "database": "PubMed", "id": "14741102", "url": "https://glygen.org/publication/PubMed/14741102" } ], "site_lbl": "Ser128" }, { "start_pos": 14, "end_pos": 14, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine; by PKC", "evidence": [ { "database": "UniProtKB", "id": "O43602", "url": "https://www.uniprot.org/uniprot/O43602" } ], "site_lbl": "Thr14" }, { "start_pos": 265, "end_pos": 265, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine; by CK2", "evidence": [ { "database": "UniProtKB", "id": "O43602", "url": "https://www.uniprot.org/uniprot/O43602" } ], "site_lbl": "Ser265" }, { "start_pos": 287, "end_pos": 287, "kinase_uniprot_canonical_ac": "Q00535-1", "kinase_gene_name": "CDK5", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O43602", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43602" }, { "database": "PubMed", "id": "14741103", "url": "https://glygen.org/publication/PubMed/14741103" } ], "site_lbl": "Ser287" }, { "start_pos": 287, "end_pos": 287, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": 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Genet.", "date": "1999", "authors": "Kato M, Kimura T, Lin C, Ito A, Kodama S, Morikawa T, Soga T, Hayasaka K", "evidence": [ { "database": "UniProtKB", "id": "O43602", "url": "https://www.uniprot.org/uniprot/O43602" } ], "reference": [ { "type": "PubMed", "id": "10369164", "url": "https://glygen.org/publication/PubMed/10369164" } ] }, { "title": "Subcortical band heterotopia in rare affected males can be caused by missense mutations in DCX (XLIS) or LIS1.", "journal": "Hum. Mol. Genet.", "date": "1999", "authors": "Pilz DT, Kuc J, Matsumoto N, Bodurtha J, Bernadi B, Tassinari CA, Dobyns WB, Ledbetter DH", "evidence": [ { "database": "UniProtKB", "id": "O43602", "url": "https://www.uniprot.org/uniprot/O43602" } ], "reference": [ { "type": "PubMed", "id": "10441340", "url": "https://glygen.org/publication/PubMed/10441340" } ] }, { "title": "Genetic alteration of the DCX gene in Japanese patients with subcortical laminar heterotopia or isolated lissencephaly sequence.", "journal": "J. Hum. Genet.", "date": "2000", "authors": "Sakamoto M, Ono J, Okada S, Nakamura Y, Kurahashi H", "evidence": [ { "database": "UniProtKB", "id": "O43602", "url": "https://www.uniprot.org/uniprot/O43602" } ], "reference": [ { "type": "PubMed", "id": "10807542", "url": "https://glygen.org/publication/PubMed/10807542" } ] }, { "title": "The neural cell recognition molecule neurofascin interacts with syntenin-1 but not with syntenin-2, both of which reveal self-associating activity.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Koroll M, Rathjen FG, Volkmer H", "evidence": [ { "database": "Reactome", "id": "R-HSA-447043", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-447043" } ], "reference": [ { "type": "PubMed", "id": "11152476", "url": "https://glygen.org/publication/PubMed/11152476" } ] }, { "title": "Mutation analysis of the DCX gene and genotype/phenotype correlation in subcortical band heterotopia.", "journal": "Eur. J. Hum. Genet.", "date": "2001", "authors": "Matsumoto N, Leventer RJ, Kuc JA, Mewborn SK, Dudlicek LL, Ramocki MB, Pilz DT, Mills PL, Das S, Ross ME, Ledbetter DH, Dobyns WB", "evidence": [ { "database": "UniProtKB", "id": "O43602", "url": "https://www.uniprot.org/uniprot/O43602" } ], "reference": [ { "type": "PubMed", "id": "11175293", "url": "https://glygen.org/publication/PubMed/11175293" } ] }, { "title": "Incomplete penetrance with normal MRI in a woman with germline mutation of the DCX gene.", "journal": "Neurology", "date": "2001", "authors": "Demelas L, Serra G, Conti M, Achene A, Mastropaolo C, Matsumoto N, Dudlicek LL, Mills PL, Dobyns WB, Ledbetter DH, Das S", "evidence": [ { "database": "UniProtKB", "id": "O43602", "url": "https://www.uniprot.org/uniprot/O43602" } ], "reference": [ { "type": "PubMed", "id": "11468322", "url": "https://glygen.org/publication/PubMed/11468322" } ] }, { "title": "Mutation of the doublecortin gene in male patients with double cortex syndrome: somatic mosaicism detected by hair root analysis.", "journal": "Ann. Neurol.", "date": "2001", "authors": "Kato M, Kanai M, Soma O, Takusa Y, Kimura T, Numakura C, Matsuki T, Nakamura S, Hayasaka K", "evidence": [ { "database": "UniProtKB", "id": "O43602", "url": "https://www.uniprot.org/uniprot/O43602" } ], "reference": [ { "type": "PubMed", "id": "11601509", "url": "https://glygen.org/publication/PubMed/11601509" } ] }, { "title": "So-called 'cryptogenic' partial seizures resulting from a subtle cortical dysgenesis due to a doublecortin gene mutation.", "journal": "Seizure", "date": "2002", "authors": "des Portes V, Abaoub L, Joannard A, Souville I, Francis F, Pinard JM, Chelly J, Beldjord C, Jouk PS", "evidence": [ { "database": "UniProtKB", "id": "O43602", "url": "https://www.uniprot.org/uniprot/O43602" } ], "reference": [ { "type": "PubMed", "id": "12027577", "url": "https://glygen.org/publication/PubMed/12027577" } ] }, { "title": "Subcortical band heterotopia (SBH) in males: clinical, imaging and genetic findings in comparison with females.", "journal": "Brain", "date": "2002", "authors": "D'Agostino MD, Bernasconi A, Das S, Bastos A, Valerio RM, Palmini A, Costa da Costa J, Scheffer IE, Berkovic S, Guerrini R, Dravet C, Ono J, Gigli G, Federico A, Booth F, Bernardi B, Volpi L, Tassinari CA, Guggenheim MA, Ledbetter DH, Gleeson JG, Lopes-Cendes I, Vossler DG, Malaspina E, Franzoni E, Sartori RJ, Mitchell MH, Mercho S, Dubeau F, Andermann F, Dobyns WB, Andermann E", "evidence": [ { "database": "UniProtKB", "id": "O43602", "url": "https://www.uniprot.org/uniprot/O43602" } ], "reference": [ { "type": "PubMed", "id": "12390976", "url": "https://glygen.org/publication/PubMed/12390976" } ] }, { "title": "Somatic mosaicism and variable penetrance in doublecortin-associated migration disorders.", "journal": "Neurology", "date": "2003", "authors": "Aigner L, Uyanik G, Couillard-Despres S, Ploetz S, Wolff G, Morris-Rosendahl D, Martin P, Eckel U, Spranger S, Otte J, Woerle H, Holthausen H, Apheshiotis N, Fluegel D, Winkler J", "evidence": [ { "database": "UniProtKB", "id": "O43602", "url": "https://www.uniprot.org/uniprot/O43602" } ], "reference": [ { "type": "PubMed", "id": "12552055", "url": "https://glygen.org/publication/PubMed/12552055" } ] }, { "title": "The DCX-domain tandems of doublecortin and doublecortin-like kinase.", "journal": "Nat. Struct. Biol.", "date": "2003", "authors": "Bushweller J.H., Cierpicki T., Feng Y., Kim M.H., Dauter Z., Walsh C.A., Derewenda Z.S., Derewenda U., Devedjiev Y., Krowarsch D., Otlewski J.", "evidence": [ { "database": "UniProtKB", "id": "O43602", "url": "https://www.uniprot.org/uniprot/O43602" } ], "reference": [ { "type": "PubMed", "id": "12692530", "url": "https://glygen.org/publication/PubMed/12692530" } ] }, { "title": "Doublecortin microtubule affinity is regulated by a balance of kinase and phosphatase activity at the leading edge of migrating neurons.", "journal": "Neuron", "date": "2004", "authors": "Schaar BT, Kinoshita K, McConnell SK", "evidence": [ { "database": "iPTMnet", "id": "O43602", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43602" } ], "reference": [ { "type": "PubMed", "id": "14741102", "url": "https://glygen.org/publication/PubMed/14741102" } ] }, { "title": "Cdk5 phosphorylation of doublecortin ser297 regulates its effect on neuronal migration.", "journal": "Neuron", "date": "2004", "authors": "Tanaka T, Serneo FF, Tseng HC, Kulkarni AB, Tsai LH, Gleeson JG", "evidence": [ { "database": "iPTMnet", "id": "O43602-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43602-1" } ], "reference": [ { "type": "PubMed", "id": "14741103", "url": "https://glygen.org/publication/PubMed/14741103" } ] }, { "title": "Multisite phosphorylation of doublecortin by cyclin-dependent kinase 5.", "journal": "The Biochemical journal", "date": "2004", "authors": "Graham ME, Ruma-Haynes P, Capes-Davis AG, Dunn JM, Tan TC, Valova VA, Robinson PJ, Jeffrey PL", "evidence": [ { "database": "iPTMnet", "id": "O43602", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43602" } ], "reference": [ { "type": "PubMed", "id": "15099191", "url": "https://glygen.org/publication/PubMed/15099191" } ] }, { "title": "Phosphoproteomic analysis of the developing mouse brain.", "journal": "Molecular & cellular proteomics : MCP", "date": "2004", "authors": "Ballif BA, Villen J, Beausoleil SA, Schwartz D, Gygi SP", "evidence": [ { "database": "iPTMnet", "id": "O43602-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43602-1" } ], "reference": [ { "type": "PubMed", "id": "15345747", "url": "https://glygen.org/publication/PubMed/15345747" } ] }, { "title": "Doublecortin association with actin filaments is regulated by neurabin II.", "journal": "The Journal of biological chemistry", "date": "2005", "authors": "Tsukada M, Prokscha A, Ungewickell E, Eichele G", "evidence": [ { "database": "iPTMnet", "id": "O43602", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43602" } ], "reference": [ { "type": "PubMed", "id": "15632197", "url": "https://glygen.org/publication/PubMed/15632197" } ] }, { "title": "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.", "journal": "Cell", "date": "2006", "authors": "Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M", "evidence": [ { "database": "UniProtKB", "id": "O43602", "url": "https://www.uniprot.org/uniprot/O43602" }, { "database": "UniProtKB", "id": "A0A1B0GWD1", "url": "https://www.uniprot.org/uniprot/A0A1B0GWD1" }, { "database": "UniProtKB", "id": "A8K340", "url": "https://www.uniprot.org/uniprot/A8K340" }, { "database": "iPTMnet", "id": "O43602-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43602-1" } ], "reference": [ { "type": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" } ] }, { "title": "JNK phosphorylates Ser332 of doublecortin and regulates its function in neurite extension and neuronal migration.", "journal": "Developmental neurobiology", "date": "2010", "authors": "Jin J, Suzuki H, Hirai S, Mikoshiba K, Ohshima T", "evidence": [ { "database": "iPTMnet", "id": "O43602", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43602" } ], "reference": [ { "type": "PubMed", "id": "20715151", "url": 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J. Hum. Genet.", "date": "2014", "authors": "Homan CC, Kumar R, Nguyen LS, Haan E, Raymond FL, Abidi F, Raynaud M, Schwartz CE, Wood SA, Gecz J, Jolly LA", "evidence": [ { "database": "UniProtKB", "id": "O43602", "url": "https://www.uniprot.org/uniprot/O43602" } ], "reference": [ { "type": "PubMed", "id": "24607389", "url": "https://glygen.org/publication/PubMed/24607389" } ] }, { "title": "A novel DCX missense mutation in a family with X-linked lissencephaly and subcortical band heterotopia syndrome inherited from a low-level somatic mosaic mother: Genetic and functional studies.", "journal": "Eur. J. Paediatr. Neurol.", "date": "2016", "authors": "Tsai MH, Kuo PW, Myers CT, Li SW, Lin WC, Fu TY, Chang HY, Mefford HC, Chang YC, Tsai JW", "evidence": [ { "database": "UniProtKB", "id": "O43602", "url": "https://www.uniprot.org/uniprot/O43602" } ], "reference": [ { "type": "PubMed", "id": "27292316", "url": "https://glygen.org/publication/PubMed/27292316" } ] }, { "title": "Doublecortin X (DCX) serine 28 phosphorylation is a regulatory switch, modulating association of DCX with microtubules and actin filaments.", "journal": "Biochimica et biophysica acta. Molecular cell research", "date": "2019", "authors": "Moslehi M, Ng DCH, Bogoyevitch MA", "evidence": [ { "database": "RefSeq", "id": "NP_000546", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000546" }, { "database": "RefSeq", "id": "NP_001182482", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001182482" } ], "reference": [ { "type": "PubMed", "id": "30625347", "url": "https://glygen.org/publication/PubMed/30625347" } ] }, { "title": "Pathogenic E2K mutation of doublecortin X (DCX) alters microtubule stabilisation and actin filament association.", "journal": "Biochemical and biophysical research communications", "date": "2019", "authors": "Moslehi M, Ng DCH, Bogoyevitch MA", "evidence": [ { "database": "RefSeq", "id": "NP_000546", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000546" }, { "database": "RefSeq", "id": "NP_001182482", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001182482" } ], "reference": [ { "type": "PubMed", "id": "30979500", "url": "https://glygen.org/publication/PubMed/30979500" } ] }, { "title": "Doublecortin undergo nucleocytoplasmic transport via the RanGTPase signaling to promote glioma progression.", "journal": "Cell communication and signaling : CCS", "date": "2020", "authors": "Ayanlaja AA, Ji G, Wang J, Gao Y, Cheng B, Kanwore K, Zhang L, Xiong Y, Kambey PA, Gao D", "evidence": [ { "database": "RefSeq", "id": "NP_000546", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000546" }, { "database": "RefSeq", "id": "NP_001182482", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001182482" }, { "database": "iPTMnet", "id": "O43602", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43602" } ], "reference": [ { "type": "PubMed", "id": "32050972", "url": "https://glygen.org/publication/PubMed/32050972" } ] }, { "title": "Novel lissencephaly-associated DCX variants in the C-terminal DCX domain affect microtubule binding and dynamics.", "journal": "Epilepsia", "date": "2022", "authors": "Lin JR, Cheng JF, Liu YT, Hsu TR, Lin KM, Chen C, Lin CL, Tsai MH, Tsai JW", "evidence": [ { "database": "RefSeq", "id": "NP_001182482", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001182482" }, { "database": "RefSeq", "id": "NP_000546", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000546" } ], "reference": [ { "type": "PubMed", "id": "35213059", "url": "https://glygen.org/publication/PubMed/35213059" } ] }, { "title": "Neurofascin induces neurites by heterophilic interactions with axonal NrCAM while NrCAM requires F11 on the axonal surface to extend neurites.", "journal": "The Journal of cell biology", "date": "1996", "authors": "Volkmer H, Leuschner R, Zacharias U, Rathjen FG", "evidence": [ { "database": "Reactome", "id": "R-HSA-447043", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-447043" } ], "reference": [ { "type": "PubMed", "id": "8922386", "url": "https://glygen.org/publication/PubMed/8922386" } ] }, { "title": "The phosphorylation state of the FIGQY tyrosine of neurofascin determines ankyrin-binding activity and patterns of cell segregation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1997", "authors": "Tuvia S, Garver TD, Bennett V", "evidence": [ { "database": "Reactome", "id": "R-HSA-447043", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-447043" } ], "reference": [ { "type": "PubMed", "id": "9371782", "url": "https://glygen.org/publication/PubMed/9371782" } ] }, { "title": "A novel CNS gene required for neuronal migration and involved in X-linked subcortical laminar heterotopia and lissencephaly syndrome.", "journal": "Cell", "date": "1998", "authors": "des Portes V, Pinard JM, Billuart P, Vinet MC, Koulakoff A, Carrie A, Gelot A, Dupuis E, Motte J, Berwald-Netter Y, Catala M, Kahn A, Beldjord C, Chelly J", "evidence": [ { "database": "UniProtKB", "id": "O43602", "url": "https://www.uniprot.org/uniprot/O43602" } ], "reference": [ { "type": "PubMed", "id": "9489699", "url": "https://glygen.org/publication/PubMed/9489699" } ] }, { "title": "Doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein.", "journal": "Cell", "date": "1998", "authors": "Gleeson JG, Allen KM, Fox JW, Lamperti ED, Berkovic S, Scheffer I, Cooper EC, Dobyns WB, Minnerath SR, Ross ME, Walsh CA", "evidence": [ { "database": "UniProtKB", "id": "O43602", "url": "https://www.uniprot.org/uniprot/O43602" } ], "reference": [ { "type": "PubMed", "id": "9489700", "url": "https://glygen.org/publication/PubMed/9489700" } ] }, { "title": "Doublecortin is the major gene causing X-linked subcortical laminar heterotopia (SCLH).", "journal": "Hum. Mol. Genet.", "date": "1998", "authors": "des Portes V, Francis F, Pinard JM, Desguerre I, Moutard ML, Snoeck I, Meiners LC, Capron F, Cusmai R, Ricci S, Motte J, Echenne B, Ponsot G, Dulac O, Chelly J, Beldjord C", "evidence": [ { "database": "UniProtKB", "id": "O43602", "url": "https://www.uniprot.org/uniprot/O43602" } ], "reference": [ { "type": "PubMed", "id": "9618162", "url": "https://glygen.org/publication/PubMed/9618162" } ] }, { "title": "Human doublecortin (DCX) and the homologous gene in mouse encode a putative Ca2+-dependent signaling protein which is mutated in human X-linked neuronal migration defects.", "journal": "Hum. Mol. Genet.", "date": "1998", "authors": "Sossey-Alaoui K, Hartung AJ, Guerrini R, Manchester DK, Posar A, Puche-Mira A, Andermann E, Dobyns WB, Srivastava AK", "evidence": [ { "database": "UniProtKB", "id": "O43602", "url": "https://www.uniprot.org/uniprot/O43602" } ], "reference": [ { "type": "PubMed", "id": "9668176", "url": "https://glygen.org/publication/PubMed/9668176" } ] }, { "title": "Structural requirements for association of neurofascin with ankyrin.", "journal": "The Journal of biological chemistry", "date": "1998", "authors": "Zhang X, Davis JQ, Carpenter S, Bennett V", "evidence": [ { "database": "Reactome", "id": "R-HSA-447043", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-447043" } ], "reference": [ { "type": "PubMed", "id": "9804856", "url": "https://glygen.org/publication/PubMed/9804856" } ] }, { "title": "LIS1 and XLIS (DCX) mutations cause most classical lissencephaly, but different patterns of malformation.", "journal": "Hum. Mol. Genet.", "date": "1998", "authors": "Pilz DT, Matsumoto N, Minnerath S, Mills P, Gleeson JG, Allen KM, Walsh CA, Barkovich AJ, Dobyns WB, Ledbetter DH, Ross ME", "evidence": [ { "database": "UniProtKB", "id": "O43602", "url": "https://www.uniprot.org/uniprot/O43602" } ], "reference": [ { "type": "PubMed", "id": "9817918", "url": "https://glygen.org/publication/PubMed/9817918" } ] }, { "title": "Characterization of mutations in the gene doublecortin in patients with double cortex syndrome.", "journal": "Ann. Neurol.", "date": "1999", "authors": "Crawford T.O., Guerrini R., Gleeson J.G., Allen K.M., Dobyns W.B., Ross M.E., Walsh C.A., Kuzniecky R., Andermann E., Berg M.J., Borgatti R., Fox J.W., Berkovic S., Cooper E.C., Cusmai R., Holmes G.L., Hong S.E., Leroy R., Luo R.F., Minnerath S.R., Puche-Mira A., Reitnauer P.J., Ricci S., Rooney C.M., Scheffer I., Wheless J.W.", "evidence": [ { "database": "UniProtKB", "id": "O43602", "url": "https://www.uniprot.org/uniprot/O43602" } ], "reference": [ { "type": "PubMed", "id": "9989615", "url": "https://glygen.org/publication/PubMed/9989615" } ] } ], "pathway": [ { "id": "hsa:1641", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:1641", "resource": "KEGG Pathway" }, { "id": "R-HSA-447043", "name": "Neurofascin interactions", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-447043", "resource": "Reactome", "description": "Neurofascin interactions" } ], "orthologs": [ { "uniprot_canonical_ac": "O88809-1", 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"url": "https://www.uniprot.org/uniprot/O43602" } ], "pmid": "" }, { "name": "neuron migration", "id": "GO:0001764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001764", "evidence": [ { "database": "UniProtKB", "id": "O43602", "url": "https://www.uniprot.org/uniprot/O43602" } ], "pmid": "" }, { "name": "hippocampus development", "id": "GO:0021766", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021766", "evidence": [ { "database": "UniProtKB", "id": "O43602", "url": "https://www.uniprot.org/uniprot/O43602" } ], "pmid": "" }, { "name": "retina development in camera-type eye", "id": "GO:0060041", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060041", "evidence": [ { "database": "UniProtKB", "id": "O43602", "url": "https://www.uniprot.org/uniprot/O43602" } ], "pmid": "" }, { "name": "central nervous system projection neuron axonogenesis", "id": "GO:0021952", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021952", "evidence": [ { "database": "UniProtKB", "id": "O43602", "url": "https://www.uniprot.org/uniprot/O43602" } ], "pmid": "" }, { "name": "dendrite morphogenesis", "id": "GO:0048813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048813", "evidence": [ { "database": "UniProtKB", "id": "O43602", "url": "https://www.uniprot.org/uniprot/O43602" } ], "pmid": "" }, { "name": "layer formation in cerebral cortex", "id": "GO:0021819", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021819", "evidence": [ { "database": "UniProtKB", "id": "O43602", "url": "https://www.uniprot.org/uniprot/O43602" } ], "pmid": "" }, { "name": "pyramidal neuron development", "id": "GO:0021860", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021860", "evidence": [ { "database": "UniProtKB", "id": "O43602", "url": "https://www.uniprot.org/uniprot/O43602" } ], "pmid": "" }, { "name": "axon extension", "id": "GO:0048675", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048675", "evidence": [ { "database": "UniProtKB", "id": "O43602", "url": "https://www.uniprot.org/uniprot/O43602" } ], "pmid": "" }, { "name": "axoneme assembly", "id": "GO:0035082", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035082", "evidence": [ { "database": "UniProtKB", "id": "O43602", "url": "https://www.uniprot.org/uniprot/O43602" } ], "pmid": "" }, { "name": "nervous system development", "id": "GO:0007399", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007399", "evidence": [ { "database": "UniProtKB", "id": "O43602", "url": "https://www.uniprot.org/uniprot/O43602" } ], "pmid": "" }, { "name": "central nervous system development", "id": "GO:0007417", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007417", "evidence": [ { "database": "UniProtKB", "id": "O43602", "url": "https://www.uniprot.org/uniprot/O43602" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 145, "end_pos": 147, "annotation": "n_glycosylation_sequon" }, { "start_pos": 317, "end_pos": 319, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [ { "annotation": "Phosphorylation by MARK1, MARK2 and PKA regulates its ability to bind microtubules (By similarity). Phosphorylation at Ser-265 and Ser-297 seems to occur only in neonatal brain, the levels falling precipitously by postnatal day 21 (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "O43602", "url": "https://www.uniprot.org/uniprot/O43602" }, { "database": "PubMed", "id": "O88809", "url": "https://glygen.org/publication/PubMed/O88809" }, { "database": "PubMed", "id": "Q9ESI7", "url": "https://glygen.org/publication/PubMed/Q9ESI7" } ] }, { "annotation": "Ubiquitinated by MDM2, leading to its degradation by the proteasome. 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