[ { "uniprot_canonical_ac": "P20929-2", "uniprot_ac": "P20929", "uniprot_id": "NEBU_HUMAN", "mass": { "chemical_mass": 986665.0, "monoisotopic_mass": 986665.0 }, "refseq": { "ac": "NP_001157979", "name": "nebulin isoform 1", "summary": "This gene encodes nebulin, a giant protein component of the cytoskeletal matrix that coexists with the thick and thin filaments within the sarcomeres of skeletal muscle. In most vertebrates, nebulin accounts for 3 to 4% of the total myofibrillar protein. The encoded protein contains approximately 30-amino acid long modules that can be classified into 7 types and other repeated modules. Protein isoform sizes vary from 600 to 800 kD due to alternative splicing that is tissue-, species-,and developmental stage-specific. Of the 183 exons in the nebulin gene, at least 43 are alternatively spliced, although exons 143 and 144 are not found in the same transcript. Of the several thousand transcript variants predicted for nebulin, the RefSeq Project has decided to create three representative RefSeq records. Mutations in this gene are associated with recessive nemaline myopathy. [provided by RefSeq, Sep 2009].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001157979" }, "gene_names": [ { "name": "NEB", "type": "recommended", "evidence": [ { "id": "P20929", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P20929" } ] }, { "name": "AMC6", "type": "synonym", "evidence": [ { "id": "NP_001157979", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001157979" } ] }, { "name": "NEB177D", "type": "synonym", "evidence": [ { "id": "NP_001157979", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001157979" } ] }, { "name": "NEB", "type": "synonym", "evidence": [ { "id": "NP_001157979", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001157979" } ] }, { "name": "NEM2", "type": "synonym", "evidence": [ { "id": "NP_001157979", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001157979" } ] } ], "protein_names": [ { "name": "Nebulin", "type": "recommended", "evidence": [ { "id": "P20929", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P20929/entry#names_and_taxonomy" } ] }, { "name": "nebulin isoform 1", "type": "synonym", "evidence": [ { "id": "NP_001157979", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001157979" } ] }, { "name": "nemaline myopathy type 2", "type": "synonym", "evidence": [ { "id": "NP_001157979", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001157979" } ] } ], "function": [ { "annotation": "45 novel mutations within the nubulin gene are associated with nemaline myopathy.", "evidence": [ { "database": "RefSeq", "id": "NP_001157979", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001157979" }, { "database": "PubMed", "id": "16917880", "url": "https://glygen.org/publication/PubMed/16917880" } ] }, { "annotation": "Characterization of NEB pathogenic variants in patients reveals novel nemaline myopathy disease mechanisms and omecamtiv mecarbil force effects. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001157979", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001157979" }, { "database": "PubMed", "id": "38634969", "url": "https://glygen.org/publication/PubMed/38634969" } ] }, { "annotation": "Lethal multiple pterygium syndrome, large cystic hygroma, and cleft palate: Rare and severe fetal presentations of RYR1- and NEB-related congenital myopathies.", "evidence": [ { "database": "RefSeq", "id": "NP_001157979", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001157979" }, { "database": "PubMed", "id": "38520674", "url": "https://glygen.org/publication/PubMed/38520674" } ] }, { "annotation": "This gene encodes nebulin, a giant protein component of the cytoskeletal matrix that coexists with the thick and thin filaments within the sarcomeres of skeletal muscle. In most vertebrates, nebulin accounts for 3 to 4% of the total myofibrillar protein. The encoded protein contains approximately 30-amino acid long modules that can be classified into 7 types and other repeated modules. Protein isoform sizes vary from 600 to 800 kD due to alternative splicing that is tissue-, species-,and developmental stage-specific. Of the 183 exons in the nebulin gene, at least 43 are alternatively spliced, although exons 143 and 144 are not found in the same transcript. Of the several thousand transcript variants predicted for nebulin, the RefSeq Project has decided to create three representative RefSeq records. Mutations in this gene are associated with recessive nemaline myopathy. [provided by RefSeq, Sep 2009].", "evidence": [ { "database": "RefSeq", "id": "NP_001157979", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001157979" } ] }, { "annotation": "This giant muscle protein may be involved in maintaining the structural integrity of sarcomeres and the membrane system associated with the myofibrils. Binds and stabilize F-actin.", "evidence": [ { "database": "UniProtKB", "id": "P20929", "url": "https://www.uniprot.org/uniprotkb/P20929#function" } ] } ], "disease": [ { "disease_id": "DOID:0070336", "recommended_name": { "id": "DOID:0070336", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070336", "name": "arthrogryposis multiplex congenita-6", "description": "An arthrogryposis multiplex congenita characterized by congenital joint contractures, dysmorphic facial features, distal skeletal anomalies with clenched hands and clubfeet, and edema with fetal hydrops and that has_material_basis_in homozygous or compound heterozygous mutation in the NEB gene on chromosome 2q23." }, "synonyms": [ { "id": "MONDO:0030281", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0030281", "name": "arthrogryposis multiplex congenita 6", "description": "" }, { "id": "MONDO:0030281", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0030281", "name": "AMC6", "description": "" }, { "id": "MONDO:0030281", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0030281", "name": "arthrogryposis multiplex congenita 6", "description": "" }, { "id": "MIM:619334", "resource": "MIM", "url": "https://www.omim.org/entry/619334", "name": "Arthrogryposis multiplex congenita 6", "description": "Arthrogryposis multiplex congenita 6" } ], "unlinked_id_list": [], "evidence": [ { "id": "619334", "database": "MIM", "url": "https://www.omim.org/entry/619334" }, { "id": "0070336", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070336" } ] }, { "disease_id": "DOID:0110928", "recommended_name": { "id": "DOID:0110928", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110928", "name": "nemaline myopathy 2", "description": "A nemaline myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the NEB gene on chromosome 2q23." }, "synonyms": [ { "id": "DOID:0110928", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110928", "name": "NEM2", "description": "" }, { "id": "DOID:0110928", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110928", "name": "nemaline myopathy 2, autosomal recessive", "description": "" }, { "id": "DOID:0110928", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110928", "name": "congenital myopathy 2", "description": "" }, { "id": "MONDO:0009725", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009725", "name": "nemaline myopathy 2", "description": "An autosomal recessive inherited myopathy caused by mutations in the NEB gene. It is characterized by generalized hypotonia and skeletal muscle weakness." }, { "id": "MONDO:0009725", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009725", "name": "NEB nemaline myopathy", "description": "" }, { "id": "MONDO:0009725", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009725", "name": "NEM2", "description": "" }, { "id": "MONDO:0009725", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009725", "name": "nemaline myopathy 2", "description": "" }, { "id": "MONDO:0009725", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009725", "name": "nemaline myopathy caused by mutation in NEB", "description": "" }, { "id": "MONDO:0009725", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009725", "name": "nemaline myopathy type 2", "description": "" }, { "id": "MIM:256030", "resource": "MIM", "url": "https://www.omim.org/entry/256030", "name": "Nemaline myopathy 2", "description": "Nemaline myopathy 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "256030", "database": "MIM", "url": "https://www.omim.org/entry/256030" }, { "id": "0110928", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110928" } ] }, { "disease_id": "DOID:3191", "recommended_name": { "id": "DOID:3191", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3191", "name": "nemaline myopathy", "description": "A congenital myopathy characterized by generally non-progressive muscle weakness of varying severity and problems with the tone and contraction of skeletal muscles. The muscle cells contain abnormal clumps of threadlike material called nemaline bodies." }, "synonyms": [ { "id": "DOID:3191", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3191", "name": "Nemaline body disease", "description": "" }, { "id": "DOID:3191", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3191", "name": "nemaline rod myopathy", "description": "" }, { "id": "DOID:3191", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3191", "name": "rod myopathy", "description": "" }, { "id": "DOID:3191", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3191", "name": "rod body disease", "description": "" }, { "id": "MONDO:0009725", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009725", "name": "nemaline myopathy 2", "description": "An autosomal recessive inherited myopathy caused by mutations in the NEB gene. It is characterized by generalized hypotonia and skeletal muscle weakness." }, { "id": "MONDO:0009725", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009725", "name": "NEB nemaline myopathy", "description": "" }, { "id": "MONDO:0009725", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009725", "name": "NEM2", "description": "" }, { "id": "MONDO:0009725", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009725", "name": "nemaline myopathy 2", "description": "" }, { "id": "MONDO:0009725", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009725", "name": "nemaline myopathy caused by mutation in NEB", "description": "" }, { "id": "MONDO:0009725", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009725", "name": "nemaline myopathy type 2", "description": "" }, { "id": "MIM:256030", "resource": "MIM", "url": "https://www.omim.org/entry/256030", "name": "Nemaline myopathy 2", "description": "Nemaline myopathy 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "3191", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3191" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "63.6", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000183091", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000183091" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "73.43", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000183091", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000183091" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "62.34", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000183091", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000183091" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "49.96", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000183091", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000183091" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "75.35", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000183091", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000183091" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "67.35", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000183091", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000183091" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "47.76", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000183091", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000183091" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "57.67", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000183091", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000183091" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "79.65", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000183091", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000183091" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "47.6", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000183091", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000183091" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "67.56", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000183091", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000183091" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "78.52", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000183091", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000183091" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "72.49", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000183091", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000183091" } ] } ], "expression_disease": [ { "significant": "No", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "https://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P20929", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P20929" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "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: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": "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: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: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: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: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:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO: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: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: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: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: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:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "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:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "https://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P20929", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P20929" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "https://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "P20929", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P20929" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Head and neck cancer [DO disease name]", "url": "https://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "P20929", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P20929" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ], "unlinked_id_list": [ "DOID:1542" ], "evidence": [ { "id": "11934", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11934" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Lung cancer [DO disease 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"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": "" 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"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: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": 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P20929" } ], "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://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": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "https://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "P20929", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P20929" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thyroid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3973", "DOID:0080524", "DOID:0080525" ], "evidence": [ { "id": "1781", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1781" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Kidney cancer [DO disease name]", "url": "https://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "P20929", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P20929" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:263", "name": 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"https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease 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"id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of 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"categories": [ "Other" ] }, { "id": "IPR000900", "url": "https://www.ebi.ac.uk/interpro/entry/IPR000900", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR001452", "url": "https://www.ebi.ac.uk/interpro/entry/IPR001452", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR013998", "url": "https://www.ebi.ac.uk/interpro/entry/IPR013998", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR035629", "url": "https://www.ebi.ac.uk/interpro/entry/IPR035629", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036028", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036028", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR055297", "url": "https://www.ebi.ac.uk/interpro/entry/IPR055297", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:4703", "url": "https://www.genome.jp/dbget-bin/www_bget?hsa:4703", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "161650", "url": "http://www.omim.org/entry/161650", "database": "MIM", "categories": [ "Other" ] }, { "id": "256030", "url": "http://www.omim.org/entry/256030", "database": "MIM", "categories": [ "Other" ] }, { "id": "619334", "url": "http://www.omim.org/entry/619334", "database": "MIM", "categories": [ "Other" ] }, { "id": "P20929", "url": "https://oglcnac.org/atlas/detail/P20929", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "P20929", "url": "https://www.orthodb.org/?gene=P20929", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR11039", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11039", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR11039:SF37", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11039:SF37", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "pdb_00001ark", "url": "https://www.rcsb.org/structure/pdb_00001ark", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "pdb_00001neb", "url": "https://www.rcsb.org/structure/pdb_00001neb", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "pdb_00006y17", "url": "https://www.rcsb.org/structure/pdb_00006y17", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "1ARK", "url": "https://www.rcsb.org/structure/1ARK", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "1NEB", "url": "https://www.rcsb.org/structure/1NEB", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6Y17", "url": "https://www.rcsb.org/structure/6Y17", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF00880", "url": "https://www.ebi.ac.uk/interpro/entry/pfam/PF00880", "database": "Pfam", "categories": [ "Other", "Protein Classification" ] }, { "id": "PF14604", "url": "https://www.ebi.ac.uk/interpro/entry/pfam/PF14604", "database": "Pfam", "categories": [ "Other", "Protein Classification" ] }, { "id": "P20929", "url": "https://pharos.nih.gov/targets/P20929", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR:P20929", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=PR:P20929", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-390522", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-390522", "database": "Reactome", "categories": [ "Enzyme and Pathway" ] }, { "id": "NP_001157979", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001157979", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "P20929", "url": "https://www.uniprot.org/uniprotkb/P20929", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P20929-1", "url": "https://www.uniprot.org/uniprotkb/P20929-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P20929-2", "url": "https://www.uniprot.org/uniprotkb/P20929-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P20929-3", "url": "https://www.uniprot.org/uniprotkb/P20929-3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P20929-4", "url": "https://www.uniprot.org/uniprotkb/P20929-4", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MADDEDYEEVVEYYTEEVVYEEVPGETITKIYETTTTRTSDYEQSETSKPALAQPALAQPASAKPVERRKVIRKKVDPSKFMTPYIAHSQKMQDLFSPNKYKEKFEKTKGQPYASTTDTPELRRIKKVQDQLSEVKYRMDGDVAKTICHVDEKAKDIEHAKKVSQQVSKVLYKQNWEDTKDKYLLPPDAPELVQAVKNTAMFSKKLYTEDWEADKSLFYPYNDSPELRRVAQAQKALSDVAYKKGLAEQQAQFTPLADPPDIEFAKKVTNQVSKQKYKEDYENKIKGKWSETPCFEVANARMNADNISTRKYQEDFENMKDQIYFMQTETPEYKMNKKAGVAASKVKYKEDYEKNKGKADYNVLPASENPQLRQLKAAGDALSDKLYKENYEKTKAKSINYCETPKFKLDTVLQNFSSDKKYKDSYLKDILGHYVGSFEDPYHSHCMKVTAQNSDKNYKAEYEEDRGKGFFPQTITQEYEAIKKLDQCKDHTYKVHPDKTKFTQVTDSPVLLQAQVNSKQLSDLNYKAKHESEKFKCHIPPDTPAFIQHKVNAYNLSDNLYKQDWEKSKAKKFDIKVDAIPLLAAKANTKNTSDVMYKKDYEKNKGKMIGVLSINDDPKMLHSLKVAKNQSDRLYKENYEKTKAKSMNYCETPKYQLDTQLKNFSEARYKDLYVKDVLGHYVGSMEDPYHTHCMKVAAQNSDKSYKAEYEEDKGKCYFPQTITQEYEAIKKLDQCKDHTYKVHPDKTKFTAVTDSPVLLQAQLNTKQLSDLNYKAKHEGEKFKCHIPADAPQFIQHRVNAYNLSDNVYKQDWEKSKAKKFDIKVDAIPLLAAKANTKNTSDVMYKKDYEKSKGKMIGALSINDDPKMLHSLKTAKNQSDREYRKDYEKSKTIYTAPLDMLQVTQAKKSQAIASDVDYKHILHSYSYPPDSINVDLAKKAYALQSDVEYKADYNSWMKGCGWVPFGSLEMEKAKRASDILNEKKYRQHPDTLKFTSIEDAPITVQSKINQAQRSDIAYKAKGEEIIHKYNLPPDLPQFIQAKVNAYNISENMYKADLKDLSKKGYDLRTDAIPIRAAKAARQAASDVQYKKDYEKAKGKMVGFQSLQDDPKLVHYMNVAKIQSDREYKKDYEKTKSKYNTPHDMFNVVAAKKAQDVVSNVNYKHSLHHYTYLPDAMDLELSKNMMQIQSDNVYKEDYNNWMKGIGWIPIGSLDVEKVKKAGDALNEKKYRQHPDTLKFTSIVDSPVMVQAKQNTKQVSDILYKAKGEDVKHKYTMSPDLPQFLQAKCNAYNISDVCYKRDWYDLIAKGNNVLGDAIPITAAKASRNIASDYKYKEAYEKSKGKHVGFRSLQDDPKLVHYMNVAKLQSDREYKKNYENTKTSYHTPGDMVSITAAKMAQDVATNVNYKQPLHHYTYLPDAMSLEHTRNVNQIQSDNVYKDEYNSFLKGIGWIPIGSLEVEKVKKAGDALNERKYRQHPDTVKFTSVPDSMGMVLAQHNTKQLSDLNYKVEGEKLKHKYTIDPELPQFIQAKVNALNMSDAHYKADWKKTIAKGYDLRPDAIPIVAAKSSRNIASDCKYKEAYEKAKGKQVGFLSLQDDPKLVHYMNVAKIQSDREYKKGYEASKTKYHTPLDMVSVTAAKKSQEVATNANYRQSYHHYTLLPDALNVEHSRNAMQIQSDNLYKSDFTNWMKGIGWVPIESLEVEKAKKAGEILSEKKYRQHPEKLKFTYAMDTMEQALNKSNKLNMDKRLYTEKWNKDKTTIHVMPDTPDILLSRVNQITMSDKLYKAGWEEEKKKGYDLRPDAIAIKAARASRDIASDYKYKKAYEQAKGKHIGFRSLEDDPKLVHFMQVAKMQSDREYKKGYEKSKTSFHTPVDMLSVVAAKKSQEVATNANYRNVIHTYNMLPDAMSFELAKNMMQIQSDNQYKADYADFMKGIGWLPLGSLEAEKNKKAMEIISEKKYRQHPDTLKYSTLMDSMNMVLAQNNAKIMNEHLYKQAWEADKTKVHIMPDIPQIILAKANAINMSDKLYKLSLEESKKKGYDLRPDAIPIKAAKASRDIASDYKYKYNYEKGKGKMVGFRSLEDDPKLVHSMQVAKMQSDREYKKNYENTKTSYHTPADMLSVTAAKDAQANITNTNYKHLIHKYILLPDAMNIELTRNMNRIQSDNEYKQDYNEWYKGLGWSPAGSLEVEKAKKATEYASDQKYRQHPSNFQFKKLTDSMDMVLAKQNAHTMNKHLYTIDWNKDKTKIHVMPDTPDILQAKQNQTLYSQKLYKLGWEEALKKGYDLPVDAISVQLAKASRDIASDYKYKQGYRKQLGHHVGFRSLQDDPKLVLSMNVAKMQSEREYKKDFEKWKTKFSSPVDMLGVVLAKKCQELVSDVDYKNYLHQWTCLPDQNDVVQAKKVYELQSENLYKSDLEWLRGIGWSPLGSLEAEKNKRASEIISEKKYRQPPDRNKFTSIPDAMDIVLAKTNAKNRSDRLYREAWDKDKTQIHIMPDTPDIVLAKANLINTSDKLYRMGYEELKRKGYDLPVDAIPIKAAKASREIASEYKYKEGFRKQLGHHIGARNIEDDPKMMWSMHVAKIQSDREYKKDFEKWKTKFSSPVDMLGVVLAKKCQTLVSDVDYKNYLHQWTCLPDQSDVIHARQAYDLQSDNLYKSDLQWLKGIGWMTSGSLEDEKNKRATQILSDHVYRQHPDQFKFSSLMDSIPMVLAKNNAITMNHRLYTEAWDKDKTTVHIMPDTPEVLLAKQNKVNYSEKLYKLGLEEAKRKGYDMRVDAIPIKAAKASRDIASEFKYKEGYRKQLGHHIGARAIRDDPKMMWSMHVAKIQSDREYKKDFEKWKTKFSSPVDMLGVVLAKKCQTLVSDVDYKNYLHQWTCLPDQSDVIHARQAYDLQSDNMYKSDLQWMRGIGWVSIGSLDVEKCKRATEILSDKIYRQPPDRFKFTSVTDSLEQVLAKNNAITMNKRLYTEAWDKDKTQIHIMPDTPEIMLARMNKINYSESLYKLANEEAKKKGYDLRSDAIPIVAAKASRDIISDYKYKDGYCKQLGHHIGARNIEDDPKMMWSMHVAKIQSDREYKKDFEKWKTKFSSPVDMLGVVLAKKCQTLVSDVDYKNYLHEWTCLPDQSDVIHARQAYDLQSDNIYKSDLQWLRGIGWVPIGSMDVVKCKRATEILSDNIYRQPPDKLKFTSVTDSLEQVLAKNNALNMNKRLYTEAWDKDKTQIHIMPDTPEIMLARQNKINYSETLYKLANEEAKKKGYDLRSDAIPIVAAKASRDVISDYKYKDGYRKQLGHHIGARNIEDDPKMMWSMHVAKIQSDREYKKDFEKWKTKFSSPVDMLGVVLAKKCQTLVSDVDYKNYLHEWTCLPDQNDVIHARQAYDLQSDNIYKSDLQWLRGIGWVPIGSMDVVKCKRAAEILSDNIYRQPPDKLKFTSVTDSLEQVLAKNNALNMNKRLYTEAWDKDKTQVHIMPDTPEIMLARQNKINYSESLYRQAMEEAKKEGYDLRSDAIPIVAAKASRDIASDYKYKEAYRKQLGHHIGARAVHDDPKIMWSLHIAKVQSDREYKKDFEKYKTRYSSPVDMLGIVLAKKCQTLVSDVDYKHPLHEWICLPDQNDIIHARKAYDLQSDNLYKSDLEWMKGIGWVPIDSLEVVRAKRAGELLSDTIYRQRPETLKFTSITDTPEQVLAKNNALNMNKRLYTEAWDNDKKTIHVMPDTPEIMLAKLNRINYSDKLYKLALEESKKEGYDLRLDAIPIQAAKASRDIASDYKYKEGYRKQLGHHIGARNIKDDPKMMWSIHVAKIQSDREYKKEFEKWKTKFSSPVDMLGVVLAKKCQILVSDIDYKHPLHEWTCLPDQNDVIQARKAYDLQSDAIYKSDLEWLRGIGWVPIGSVEVEKVKRAGEILSDRKYRQPADQLKFTCITDTPEIVLAKNNALTMSKHLYTEAWDADKTSIHVMPDTPDILLAKSNSANISQKLYTKGWDESKMKDYDLRADAISIKSAKASRDIASDYKYKEAYEKQKGHHIGAQSIEDDPKIMCAIHAGKIQSEREYKKEFQKWKTKFSSPVDMLSILLAKKCQTLVTDIDYRNYLHEWTCMPDQNDIIQAKKAYDLQSDSVYKADLEWLRGIGWMPEGSVEMNRVKVAQDLVNERLYRTRPEALSFTSIVDTPEVVLAKANSLQISEKLYQEAWNKDKSNITIPSDTPEMLQAHINALQISNKLYQKDWNDAKQKGYDIRADAIEIKHAKASREIASEYKYKEGYRKQLGHHMGFRTLQDDPKSVWAIHAAKIQSDREYKKAYEKSKGIHNTPLDMMSIVQAKKCQVLVSDIDYRNYLHQWTCLPDQNDVIQAKKAYDLQSDNLYKSDLEWLKGIGWLPEGSVEVMRVKNAQNLLNERLYRIKPEALKFTSIVDTPEVIQAKINAVQISEPLYRDAWEKEKANVNVPADTPLMLQSKINALQISNKRYQQAWEDVKMTGYDLRADAIGIQHAKASRDIASDYLYKTAYEKQKGHYIGCRSAKEDPKLVWAANVLKMQNDRLYKKAYNDHKAKISIPVDMVSISAAKEGQALASDVDYRHYLHHWSCFPDQNDVIQARKAYDLQSDSVYKADLEWLRGIGWMPEGSVEMNRVKVAQDLVNERLYRTRPEALSFTSIVDTPEVVLAKANSLQISEKLYQEAWNKDKSNITIPSDTPEMLQAHINALQISNKLYQKDWNDTKQKGYDIRADAIEIKHAKASREIASEYKYKEGYRKQLGHHMGFRTLQDDPKSVWAIHAAKIQSDREYKKAYEKSKGIHNTPLDMMSIVQAKKCQVLVSDIDYRNYLHQWTCLPDQNDVIQAKKAYDLQSDNLYKSDLEWLKGIGWLPEGSVEVMRVKNAQNLLNERLYRIKPEALKFTSIVDTPEVIQAKINAVQISEPLYRNAWEKEKANVNVPADTPLMLQSKINALQISNKRYQQAWEDVKMTGYDLRADAIGIQHAKASRDIASDYLYKTAYEKQKGHYIGCRSAKEDPKLVWAANVLKMQNDRLYKKAYNDHKAKISIPVDMVSISAAKEGQALASDVDYRHYLHHWSCFPDQNDVIQARKAYDLQSDSVYKADLEWLRGIGWMPEGSVEMNRVKVAQDLVNERLYRTRPEALSFTSIVDTPEVVLAKANSLQISEKLYQEAWNKDKSNITIPSDTPEMLQAHINALQISNKLYQKDWNDTKQKGYDIRADAIEIKHAKASREIASEYKYKEGYRKQLGHHMGFRTLQDDPKSVWAIHAAKIQSDREYKKAYEKSKGIHNTPLDMMSIVQAKKCQVLVSDIDYRNYLHQWTCLPDQNDVIQAKKAYDLQSDNLYKSDLEWLKGIGWLPEGSVEVMRVKNAQNLLNERLYRIKPEALKFTSIVDTPEVIQAKINAVQISEPLYRDAWEKEKANVNVPADTPLMLQSKINALQISNKRYQQAWEDVKMTGYDLRADAIGIQHAKASRDIASDYLYKTAYEKQKGHYIGCRSAKEDPKLVWAANVLKMQNDRLYKKAYNDHKAKISIPVDMVSISAAKEGQALASDVDYRHYLHRWSCFPDQNDVIQARKAYDLQSDALYKADLEWLRGIGWMPQGSPEVLRVKNAQNIFCDSVYRTPVVNLKYTSIVDTPEVVLAKSNAENISIPKYREVWDKDKTSIHIMPDTPEINLARANALNVSNKLYREGWDEMKAGCDVRLDAIPIQAAKASREIASDYKYKLDHEKQKGHYVGTLTARDDNKIRWALIADKLQNEREYRLDWAKWKAKIQSPVDMLSILHSKNSQALVSDMDYRNYLHQWTCMPDQNDVIQAKKAYELQSDNVYKADLEWLRGIGWMPNDSVSVNHAKHAADIFSEKKYRTKIETLNFTPVDDRVDYVTAKQSGEILDDIKYRKDWNATKSKYTLTETPLLHTAQEAARILDQYLYKEGWERQKATGYILPPDAVPFVHAHHCNDVQSELKYKAEHVKQKGHYVGVPTMRDDPKLVWFEHAGQIQNERLYKEDYHKTKAKINIPADMVSVLAAKQGQTLVSDIDYRNYLHQWMCHPDQNDVIQARKAYDLQSDNVYRADLEWLRGIGWIPLDSVDHVRVTKNQEMMSQIKYKKNALENYPNFRSVVDPPEIVLAKINSVNQSDVKYKETFNKAKGKYTFSPDTPHISHSKDMGKLYSTILYKGAWEGTKAYGYTLDERYIPIVGAKHADLVNSELKYKETYEKQKGHYLAGKVIGEFPGVVHCLDFQKMRSALNYRKHYEDTKANVHIPNDMMNHVLAKRCQYILSDLEYRHYFHQWTSLLEEPNVIRVRNAQEILSDNVYKDDLNWLKGIGCYVWDTPQILHAKKSYDLQSQLQYTAAGKENLQNYNLVTDTPLYVTAVQSGINASEVKYKENYHQIKDKYTTVLETVDYDRTRNLKNLYSSNLYKEAWDRVKATSYILPSSTLSLTHAKNQKHLASHIKYREEYEKFKALYTLPRSVDDDPNTARCLRVGKLNIDRLYRSVYEKNKMKIHIVPDMVEMVTAKDSQKKVSEIDYRLRLHEWICHPDLQVNDHVRKVTDQISDIVYKDDLNWLKGIGCYVWDTPEILHAKHAYDLRDDIKYKAHMLKTRNDYKLVTDTPVYVQAVKSGKQLSDAVYHYDYVHSVRGKVAPTTKTVDLDRALHAYKLQSSNLYKTSLRTLPTGYRLPGDTPHFKHIKDTRYMSSYFKYKEAYEHTKAYGYTLGPKDVPFVHVRRVNNVTSERLYRELYHKLKDKIHTTPDTPEIRQVKKTQEAVSELIYKSDFFKMQGHMISLPYTPQVIHCRYVGDITSDIKYKEDLQVLKGFGCFLYDTPDMVRSRHLRKLWSNYLYTDKARKMRDKYKVVLDTPEYRKVQELKTHLSELVYRAAGKKQKSIFTSVPDTPDLLRAKRGQKLQSQYLYVELATKERPHHHAGNQTTALKHAKDVKDMVSEKKYKIQYEKMKDKYTPVPDTPILIRAKRAYWNASDLRYKETFQKTKGKYHTVKDALDIVYHRKVTDDISKIKYKENYMSQLGIWRSIPDRPEHFHHRAVTDTVSDVKYKEDLTWLKGIGCYAYDTPDFTLAEKNKTLYSKYKYKEVFERTKSDFKYVADSPINRHFKYATQLMNERKYKSSAKMFLQHGCNEILRPDMLTALYNSHMWSQIKYRKNYEKSKDKFTSIVDTPEHLRTTKVNKQISDILYKLEYNKAKPRGYTTIHDTPMLLHVRKVKDEVSDLKYKEVYQRNKSNCTIEPDAVHIKAAKDAYKVNTNLDYKKQYEANKAHWKWTPDRPDFLQAAKSSLQQSDFEYKLDREFLKGCKLSVTDDKNTVLALRNTLIESDLKYKEKHVKERGTCHAVPDTPQILLAKTVSNLVSENKYKDHVKKHLAQGSYTTLPETRDTVHVKEVTKHVSDTNYKKKFVKEKGKSNYSIMLEPPEVKHAMEVAKKQSDVAYRKDAKENLHYTTVADRPDIKKATQAAKQASEVEYRAKHRKEGSHGLSMLGRPDIEMAKKAAKLSSQVKYRENFDKEKGKTPKYNPKDSQLYKVMKDANNLASEVKYKADLKKLHKPVTDMKESLIMNHVLNTSQLASSYQYKKKYEKSKGHYHTIPDNLEQLHLKEATELQSIVKYKEKYEKERGKPMLDFETPTYITAKESQQMQSGKEYRKDYEESIKGRNLTGLEVTPALLHVKYATKIASEKEYRKDLEESIRGKGLTEMEDTPDMLRAKNATQILNEKEYKRDLELEVKGRGLNAMANETPDFMRARNATDIASQIKYKQSAEMEKANFTSVVDTPEIIHAQQVKNLSSQKKYKEDAEKSMSYYETVLDTPEIQRVRENQKNFSLLQYQCDLKNSKGKITVVQDTPEILRVKENQKNFSSVLYKEDVSPGTAIGKTPEMMRVKQTQDHISSVKYKEAIGQGTPIPDLPEVKRVKETQKHISSVMYKENLGTGIPTTVTPEIERVKRNQENFSSVLYKENLGKGIPTPITPEMERVKRNQENFSSILYKENLSKGTPLPVTPEMERVKLNQENFSSVLYKENVGKGIPIPITPEMERVKHNQENFSSVLYKENLGTGIPIPITPEMQRVKHNQENLSSVLYKENMGKGTPLPVTPEMERVKHNQENISSVLYKENMGKGTPLPVTPEMERVKHNQENISSVLYKENMGKGTPLAVTPEMERVKHNQENISSVLYKENVGKATATPVTPEMQRVKRNQENISSVLYKENLGKATPTPFTPEMERVKRNQENFSSVLYKENMRKATPTPVTPEMERAKRNQENISSVLYSDSFRKQIQGKAAYVLDTPEMRRVRETQRHISTVKYHEDFEKHKGCFTPVVTDPITERVKKNMQDFSDINYRGIQRKVVEMEQKRNDQDQETITGLRVWRTNPGSVFDYDPAEDNIQSRSLHMINVQAQRRSREQSRSASALSISGGEEKSEHSEAPDHHLSTYSDGGVFAVSTAYKHAKTTELPQQRSSSVATQQTTVSSIPSHPSTAGKIFRAMYDYMAADADEVSFKDGDAIINVQAIDEGWMYGTVQRTGRTGMLPANYVEAI", "length": 8525, "header": "sp|P20929-2|NEBU_HUMAN Isoform 2 of Nebulin OS=Homo sapiens OX=9606 GN=NEB PE=1 SV=6 CANONICAL=P20929-2" }, "isoforms": [ { "isoform_ac": "P20929-1", "url": "https://www.uniprot.org/uniprotkb/P20929/entry#P20929-1", "sequence": { "sequence": "MADDEDYEEVVEYYTEEVVYEEVPGETITKIYETTTTRTSDYEQSETSKPALAQPALAQPASAKPVERRKVIRKKVDPSKFMTPYIAHSQKMQDLFSPNKYKEKFEKTKGQPYASTTDTPELRRIKKVQDQLSEVKYRMDGDVAKTICHVDEKAKDIEHAKKVSQQVSKVLYKQNWEDTKDKYLLPPDAPELVQAVKNTAMFSKKLYTEDWEADKSLFYPYNDSPELRRVAQAQKALSDVAYKKGLAEQQAQFTPLADPPDIEFAKKVTNQVSKQKYKEDYENKIKGKWSETPCFEVANARMNADNISTRKYQEDFENMKDQIYFMQTETPEYKMNKKAGVAASKVKYKEDYEKNKGKADYNVLPASENPQLRQLKAAGDALSDKLYKENYEKTKAKSINYCETPKFKLDTVLQNFSSDKKYKDSYLKDILGHYVGSFEDPYHSHCMKVTAQNSDKNYKAEYEEDRGKGFFPQTITQEYEAIKKLDQCKDHTYKVHPDKTKFTQVTDSPVLLQAQVNSKQLSDLNYKAKHESEKFKCHIPPDTPAFIQHKVNAYNLSDNLYKQDWEKSKAKKFDIKVDAIPLLAAKANTKNTSDVMYKKDYEKNKGKMIGVLSINDDPKMLHSLKVAKNQSDRLYKENYEKTKAKSMNYCETPKYQLDTQLKNFSEARYKDLYVKDVLGHYVGSMEDPYHTHCMKVAAQNSDKSYKAEYEEDKGKCYFPQTITQEYEAIKKLDQCKDHTYKVHPDKTKFTAVTDSPVLLQAQLNTKQLSDLNYKAKHEGEKFKCHIPADAPQFIQHRVNAYNLSDNVYKQDWEKSKAKKFDIKVDAIPLLAAKANTKNTSDVMYKKDYEKSKGKMIGALSINDDPKMLHSLKTAKNQSDREYRKDYEKSKTIYTAPLDMLQVTQAKKSQAIASDVDYKHILHSYSYPPDSINVDLAKKAYALQSDVEYKADYNSWMKGCGWVPFGSLEMEKAKRASDILNEKKYRQHPDTLKFTSIEDAPITVQSKINQAQRSDIAYKAKGEEIIHKYNLPPDLPQFIQAKVNAYNISENMYKADLKDLSKKGYDLRTDAIPIRAAKAARQAASDVQYKKDYEKAKGKMVGFQSLQDDPKLVHYMNVAKIQSDREYKKDYEKTKSKYNTPHDMFNVVAAKKAQDVVSNVNYKHSLHHYTYLPDAMDLELSKNMMQIQSDNVYKEDYNNWMKGIGWIPIGSLDVEKVKKAGDALNEKKYRQHPDTLKFTSIVDSPVMVQAKQNTKQVSDILYKAKGEDVKHKYTMSPDLPQFLQAKCNAYNISDVCYKRDWYDLIAKGNNVLGDAIPITAAKASRNIASDYKYKEAYEKSKGKHVGFRSLQDDPKLVHYMNVAKLQSDREYKKNYENTKTSYHTPGDMVSITAAKMAQDVATNVNYKQPLHHYTYLPDAMSLEHTRNVNQIQSDNVYKDEYNSFLKGIGWIPIGSLEVEKVKKAGDALNERKYRQHPDTVKFTSVPDSMGMVLAQHNTKQLSDLNYKVEGEKLKHKYTIDPELPQFIQAKVNALNMSDAHYKADWKKTIAKGYDLRPDAIPIVAAKSSRNIASDCKYKEAYEKAKGKQVGFLSLQDDPKLVHYMNVAKIQSDREYKKGYEASKTKYHTPLDMVSVTAAKKSQEVATNANYRQSYHHYTLLPDALNVEHSRNAMQIQSDNLYKSDFTNWMKGIGWVPIESLEVEKAKKAGEILSEKKYRQHPEKLKFTYAMDTMEQALNKSNKLNMDKRLYTEKWNKDKTTIHVMPDTPDILLSRVNQITMSDKLYKAGWEEEKKKGYDLRPDAIAIKAARASRDIASDYKYKKAYEQAKGKHIGFRSLEDDPKLVHFMQVAKMQSDREYKKGYEKSKTSFHTPVDMLSVVAAKKSQEVATNANYRNVIHTYNMLPDAMSFELAKNMMQIQSDNQYKADYADFMKGIGWLPLGSLEAEKNKKAMEIISEKKYRQHPDTLKYSTLMDSMNMVLAQNNAKIMNEHLYKQAWEADKTKVHIMPDIPQIILAKANAINMSDKLYKLSLEESKKKGYDLRPDAIPIKAAKASRDIASDYKYKYNYEKGKGKMVGFRSLEDDPKLVHSMQVAKMQSDREYKKNYENTKTSYHTPADMLSVTAAKDAQANITNTNYKHLIHKYILLPDAMNIELTRNMNRIQSDNEYKQDYNEWYKGLGWSPAGSLEVEKAKKATEYASDQKYRQHPSNFQFKKLTDSMDMVLAKQNAHTMNKHLYTIDWNKDKTKIHVMPDTPDILQAKQNQTLYSQKLYKLGWEEALKKGYDLPVDAISVQLAKASRDIASDYKYKQGYRKQLGHHVGFRSLQDDPKLVLSMNVAKMQSEREYKKDFEKWKTKFSSPVDMLGVVLAKKCQELVSDVDYKNYLHQWTCLPDQNDVVQAKKVYELQSENLYKSDLEWLRGIGWSPLGSLEAEKNKRASEIISEKKYRQPPDRNKFTSIPDAMDIVLAKTNAKNRSDRLYREAWDKDKTQIHIMPDTPDIVLAKANLINTSDKLYRMGYEELKRKGYDLPVDAIPIKAAKASREIASEYKYKEGFRKQLGHHIGARNIEDDPKMMWSMHVAKIQSDREYKKDFEKWKTKFSSPVDMLGVVLAKKCQTLVSDVDYKNYLHQWTCLPDQSDVIHARQAYDLQSDNLYKSDLQWLKGIGWMTSGSLEDEKNKRATQILSDHVYRQHPDQFKFSSLMDSIPMVLAKNNAITMNHRLYTEAWDKDKTTVHIMPDTPEVLLAKQNKVNYSEKLYKLGLEEAKRKGYDMRVDAIPIKAAKASRDIASEFKYKEGYRKQLGHHIGARAIRDDPKMMWSMHVAKIQSDREYKKDFEKWKTKFSSPVDMLGVVLAKKCQTLVSDVDYKNYLHQWTCLPDQSDVIHARQAYDLQSDNMYKSDLQWMRGIGWVSIGSLDVEKCKRATEILSDKIYRQPPDRFKFTSVTDSLEQVLAKNNAITMNKRLYTEAWDKDKTQIHIMPDTPEIMLARQNKINYSETLYKLANEEAKKKGYDLRSDAIPIVAAKASRDVISDYKYKDGYRKQLGHHIGARNIEDDPKMMWSMHVAKIQSDREYKKDFEKWKTKFSSPVDMLGVVLAKKCQTLVSDVDYKNYLHEWTCLPDQNDVIHARQAYDLQSDNIYKSDLQWLRGIGWVPIGSMDVVKCKRAAEILSDNIYRQPPDKLKFTSVTDSLEQVLAKNNALNMNKRLYTEAWDKDKTQVHIMPDTPEIMLARQNKINYSESLYRQAMEEAKKEGYDLRSDAIPIVAAKASRDIASDYKYKEAYRKQLGHHIGARAVHDDPKIMWSLHIAKVQSDREYKKDFEKYKTRYSSPVDMLGIVLAKKCQTLVSDVDYKHPLHEWICLPDQNDIIHARKAYDLQSDNLYKSDLEWMKGIGWVPIDSLEVVRAKRAGELLSDTIYRQRPETLKFTSITDTPEQVLAKNNALNMNKRLYTEAWDNDKKTIHVMPDTPEIMLAKLNRINYSDKLYKLALEESKKEGYDLRLDAIPIQAAKASRDIASDYKYKEGYRKQLGHHIGARNIKDDPKMMWSIHVAKIQSDREYKKEFEKWKTKFSSPVDMLGVVLAKKCQILVSDIDYKHPLHEWTCLPDQNDVIQARKAYDLQSDAIYKSDLEWLRGIGWVPIGSVEVEKVKRAGEILSDRKYRQPADQLKFTCITDTPEIVLAKNNALTMSKHLYTEAWDADKTSIHVMPDTPDILLAKSNSANISQKLYTKGWDESKMKDYDLRADAISIKSAKASRDIASDYKYKEAYEKQKGHHIGAQSIEDDPKIMCAIHAGKIQSEREYKKEFQKWKTKFSSPVDMLSILLAKKCQTLVTDIDYRNYLHEWTCMPDQNDIIQAKKAYDLQSDALYKADLEWLRGIGWMPQGSPEVLRVKNAQNIFCDSVYRTPVVNLKYTSIVDTPEVVLAKSNAENISIPKYREVWDKDKTSIHIMPDTPEINLARANALNVSNKLYREGWDEMKAGCDVRLDAIPIQAAKASREIASDYKYKLDHEKQKGHYVGTLTARDDNKIRWALIADKLQNEREYRLDWAKWKAKIQSPVDMLSILHSKNSQALVSDMDYRNYLHQWTCMPDQNDVIQAKKAYELQSDNVYKADLEWLRGIGWMPNDSVSVNHAKHAADIFSEKKYRTKIETLNFTPVDDRVDYVTAKQSGEILDDIKYRKDWNATKSKYTLTETPLLHTAQEAARILDQYLYKEGWERQKATGYILPPDAVPFVHAHHCNDVQSELKYKAEHVKQKGHYVGVPTMRDDPKLVWFEHAGQIQNERLYKEDYHKTKAKINIPADMVSVLAAKQGQTLVSDIDYRNYLHQWMCHPDQNDVIQARKAYDLQSDNVYRADLEWLRGIGWIPLDSVDHVRVTKNQEMMSQIKYKKNALENYPNFRSVVDPPEIVLAKINSVNQSDVKYKETFNKAKGKYTFSPDTPHISHSKDMGKLYSTILYKGAWEGTKAYGYTLDERYIPIVGAKHADLVNSELKYKETYEKQKGHYLAGKVIGEFPGVVHCLDFQKMRSALNYRKHYEDTKANVHIPNDMMNHVLAKRCQYILSDLEYRHYFHQWTSLLEEPNVIRVRNAQEILSDNVYKDDLNWLKGIGCYVWDTPQILHAKKSYDLQSQLQYTAAGKENLQNYNLVTDTPLYVTAVQSGINASEVKYKENYHQIKDKYTTVLETVDYDRTRNLKNLYSSNLYKEAWDRVKATSYILPSSTLSLTHAKNQKHLASHIKYREEYEKFKALYTLPRSVDDDPNTARCLRVGKLNIDRLYRSVYEKNKMKIHIVPDMVEMVTAKDSQKKVSEIDYRLRLHEWICHPDLQVNDHVRKVTDQISDIVYKDDLNWLKGIGCYVWDTPEILHAKHAYDLRDDIKYKAHMLKTRNDYKLVTDTPVYVQAVKSGKQLSDAVYHYDYVHSVRGKVAPTTKTVDLDRALHAYKLQSSNLYKTSLRTLPTGYRLPGDTPHFKHIKDTRYMSSYFKYKEAYEHTKAYGYTLGPKDVPFVHVRRVNNVTSERLYRELYHKLKDKIHTTPDTPEIRQVKKTQEAVSELIYKSDFFKMQGHMISLPYTPQVIHCRYVGDITSDIKYKEDLQVLKGFGCFLYDTPDMVRSRHLRKLWSNYLYTDKARKMRDKYKVVLDTPEYRKVQELKTHLSELVYRAAGKKQKSIFTSVPDTPDLLRAKRGQKLQSQYLYVELATKERPHHHAGNQTTALKHAKDVKDMVSEKKYKIQYEKMKDKYTPVPDTPILIRAKRAYWNASDLRYKETFQKTKGKYHTVKDALDIVYHRKVTDDISKIKYKENYMSQLGIWRSIPDRPEHFHHRAVTDTVSDVKYKEDLTWLKGIGCYAYDTPDFTLAEKNKTLYSKYKYKEVFERTKSDFKYVADSPINRHFKYATQLMNEKKYRADYEQRKDKYHLVVDEPRHLLAKTAGDQISQIKYRKNYEKSKDKFTSIVDTPEHLRTTKVNKQISDILYKLEYNKAKPRGYTTIHDTPMLLHVRKVKDEVSDLKYKEVYQRNKSNCTIEPDAVHIKAAKDAYKVNTNLDYKKQYEANKAHWKWTPDRPDFLQAAKSSLQQSDFEYKLDREFLKGCKLSVTDDKNTVLALRNTLIESDLKYKEKHVKERGTCHAVPDTPQILLAKTVSNLVSENKYKDHVKKHLAQGSYTTLPETRDTVHVKEVTKHVSDTNYKKKFVKEKGKSNYSIMLEPPEVKHAMEVAKKQSDVAYRKDAKENLHYTTVADRPDIKKATQAAKQASEVEYRAKHRKEGSHGLSMLGRPDIEMAKKAAKLSSQVKYRENFDKEKGKTPKYNPKDSQLYKVMKDANNLASEVKYKADLKKLHKPVTDMKESLIMNHVLNTSQLASSYQYKKKYEKSKGHYHTIPDNLEQLHLKEATELQSIVKYKEKYEKERGKPMLDFETPTYITAKESQQMQSGKEYRKDYEESIKGRNLTGLEVTPALLHVKYATKIASEKEYRKDLEESIRGKGLTEMEDTPDMLRAKNATQILNEKEYKRDLELEVKGRGLNAMANETPDFMRARNATDIASQIKYKQSAEMEKANFTSVVDTPEIIHAQQVKNLSSQKKYKEDAEKSMSYYETVLDTPEIQRVRENQKNFSLLQYQCDLKNSKGKITVVQDTPEILRVKENQKNFSSVLYKEDVSPGTAIGKTPEMMRVKQTQDHISSVKYKEAIGQGTPIPDLPEVKRVKETQKHISSVMYKENLGTGIPTTVTPEIERVKRNQENFSSVLYKENLGKGIPTPITPEMERVKRNQENFSSVLYKENMGKGTPLAVTPEMERVKHNQENISSVLYKENVGKATATPVTPEMQRVKRNQENISSVLYKENLGKATPTPFTPEMERVKRNQENFSSVLYKENMRKATPTPVTPEMERAKRNQENISSVLYSDSFRKQIQGKAAYVLDTPEMRRVRETQRHISTVKYHEDFEKHKGCFTPVVTDPITERVKKNMQDFSDINYRGIQRKVVEMEQKRNDQDQETITGLRVWRTNPGSVFDYDPAEDNIQSRSLHMINVQAQRRSREQSRSASALSISGGEEKSEHSEAPDHHLSTYSDGGVFAVSTAYKHAKTTELPQQRSSSVATQQTTVSSIPSHPSTAGKIFRAMYDYMAADADEVSFKDGDAIINVQAIDEGWMYGTVQRTGRTGMLPANYVEAI", "length": 6669, "header": "sp|P20929-1|NEBU_HUMAN Isoform 1 of Nebulin OS=Homo sapiens OX=9606 GN=NEB PE=1 SV=6 CANONICAL=P20929-2" }, "locus": {} }, { "isoform_ac": "P20929-2", "url": "https://www.uniprot.org/uniprotkb/P20929/entry#P20929-2", "sequence": { "sequence": "MADDEDYEEVVEYYTEEVVYEEVPGETITKIYETTTTRTSDYEQSETSKPALAQPALAQPASAKPVERRKVIRKKVDPSKFMTPYIAHSQKMQDLFSPNKYKEKFEKTKGQPYASTTDTPELRRIKKVQDQLSEVKYRMDGDVAKTICHVDEKAKDIEHAKKVSQQVSKVLYKQNWEDTKDKYLLPPDAPELVQAVKNTAMFSKKLYTEDWEADKSLFYPYNDSPELRRVAQAQKALSDVAYKKGLAEQQAQFTPLADPPDIEFAKKVTNQVSKQKYKEDYENKIKGKWSETPCFEVANARMNADNISTRKYQEDFENMKDQIYFMQTETPEYKMNKKAGVAASKVKYKEDYEKNKGKADYNVLPASENPQLRQLKAAGDALSDKLYKENYEKTKAKSINYCETPKFKLDTVLQNFSSDKKYKDSYLKDILGHYVGSFEDPYHSHCMKVTAQNSDKNYKAEYEEDRGKGFFPQTITQEYEAIKKLDQCKDHTYKVHPDKTKFTQVTDSPVLLQAQVNSKQLSDLNYKAKHESEKFKCHIPPDTPAFIQHKVNAYNLSDNLYKQDWEKSKAKKFDIKVDAIPLLAAKANTKNTSDVMYKKDYEKNKGKMIGVLSINDDPKMLHSLKVAKNQSDRLYKENYEKTKAKSMNYCETPKYQLDTQLKNFSEARYKDLYVKDVLGHYVGSMEDPYHTHCMKVAAQNSDKSYKAEYEEDKGKCYFPQTITQEYEAIKKLDQCKDHTYKVHPDKTKFTAVTDSPVLLQAQLNTKQLSDLNYKAKHEGEKFKCHIPADAPQFIQHRVNAYNLSDNVYKQDWEKSKAKKFDIKVDAIPLLAAKANTKNTSDVMYKKDYEKSKGKMIGALSINDDPKMLHSLKTAKNQSDREYRKDYEKSKTIYTAPLDMLQVTQAKKSQAIASDVDYKHILHSYSYPPDSINVDLAKKAYALQSDVEYKADYNSWMKGCGWVPFGSLEMEKAKRASDILNEKKYRQHPDTLKFTSIEDAPITVQSKINQAQRSDIAYKAKGEEIIHKYNLPPDLPQFIQAKVNAYNISENMYKADLKDLSKKGYDLRTDAIPIRAAKAARQAASDVQYKKDYEKAKGKMVGFQSLQDDPKLVHYMNVAKIQSDREYKKDYEKTKSKYNTPHDMFNVVAAKKAQDVVSNVNYKHSLHHYTYLPDAMDLELSKNMMQIQSDNVYKEDYNNWMKGIGWIPIGSLDVEKVKKAGDALNEKKYRQHPDTLKFTSIVDSPVMVQAKQNTKQVSDILYKAKGEDVKHKYTMSPDLPQFLQAKCNAYNISDVCYKRDWYDLIAKGNNVLGDAIPITAAKASRNIASDYKYKEAYEKSKGKHVGFRSLQDDPKLVHYMNVAKLQSDREYKKNYENTKTSYHTPGDMVSITAAKMAQDVATNVNYKQPLHHYTYLPDAMSLEHTRNVNQIQSDNVYKDEYNSFLKGIGWIPIGSLEVEKVKKAGDALNERKYRQHPDTVKFTSVPDSMGMVLAQHNTKQLSDLNYKVEGEKLKHKYTIDPELPQFIQAKVNALNMSDAHYKADWKKTIAKGYDLRPDAIPIVAAKSSRNIASDCKYKEAYEKAKGKQVGFLSLQDDPKLVHYMNVAKIQSDREYKKGYEASKTKYHTPLDMVSVTAAKKSQEVATNANYRQSYHHYTLLPDALNVEHSRNAMQIQSDNLYKSDFTNWMKGIGWVPIESLEVEKAKKAGEILSEKKYRQHPEKLKFTYAMDTMEQALNKSNKLNMDKRLYTEKWNKDKTTIHVMPDTPDILLSRVNQITMSDKLYKAGWEEEKKKGYDLRPDAIAIKAARASRDIASDYKYKKAYEQAKGKHIGFRSLEDDPKLVHFMQVAKMQSDREYKKGYEKSKTSFHTPVDMLSVVAAKKSQEVATNANYRNVIHTYNMLPDAMSFELAKNMMQIQSDNQYKADYADFMKGIGWLPLGSLEAEKNKKAMEIISEKKYRQHPDTLKYSTLMDSMNMVLAQNNAKIMNEHLYKQAWEADKTKVHIMPDIPQIILAKANAINMSDKLYKLSLEESKKKGYDLRPDAIPIKAAKASRDIASDYKYKYNYEKGKGKMVGFRSLEDDPKLVHSMQVAKMQSDREYKKNYENTKTSYHTPADMLSVTAAKDAQANITNTNYKHLIHKYILLPDAMNIELTRNMNRIQSDNEYKQDYNEWYKGLGWSPAGSLEVEKAKKATEYASDQKYRQHPSNFQFKKLTDSMDMVLAKQNAHTMNKHLYTIDWNKDKTKIHVMPDTPDILQAKQNQTLYSQKLYKLGWEEALKKGYDLPVDAISVQLAKASRDIASDYKYKQGYRKQLGHHVGFRSLQDDPKLVLSMNVAKMQSEREYKKDFEKWKTKFSSPVDMLGVVLAKKCQELVSDVDYKNYLHQWTCLPDQNDVVQAKKVYELQSENLYKSDLEWLRGIGWSPLGSLEAEKNKRASEIISEKKYRQPPDRNKFTSIPDAMDIVLAKTNAKNRSDRLYREAWDKDKTQIHIMPDTPDIVLAKANLINTSDKLYRMGYEELKRKGYDLPVDAIPIKAAKASREIASEYKYKEGFRKQLGHHIGARNIEDDPKMMWSMHVAKIQSDREYKKDFEKWKTKFSSPVDMLGVVLAKKCQTLVSDVDYKNYLHQWTCLPDQSDVIHARQAYDLQSDNLYKSDLQWLKGIGWMTSGSLEDEKNKRATQILSDHVYRQHPDQFKFSSLMDSIPMVLAKNNAITMNHRLYTEAWDKDKTTVHIMPDTPEVLLAKQNKVNYSEKLYKLGLEEAKRKGYDMRVDAIPIKAAKASRDIASEFKYKEGYRKQLGHHIGARAIRDDPKMMWSMHVAKIQSDREYKKDFEKWKTKFSSPVDMLGVVLAKKCQTLVSDVDYKNYLHQWTCLPDQSDVIHARQAYDLQSDNMYKSDLQWMRGIGWVSIGSLDVEKCKRATEILSDKIYRQPPDRFKFTSVTDSLEQVLAKNNAITMNKRLYTEAWDKDKTQIHIMPDTPEIMLARMNKINYSESLYKLANEEAKKKGYDLRSDAIPIVAAKASRDIISDYKYKDGYCKQLGHHIGARNIEDDPKMMWSMHVAKIQSDREYKKDFEKWKTKFSSPVDMLGVVLAKKCQTLVSDVDYKNYLHEWTCLPDQSDVIHARQAYDLQSDNIYKSDLQWLRGIGWVPIGSMDVVKCKRATEILSDNIYRQPPDKLKFTSVTDSLEQVLAKNNALNMNKRLYTEAWDKDKTQIHIMPDTPEIMLARQNKINYSETLYKLANEEAKKKGYDLRSDAIPIVAAKASRDVISDYKYKDGYRKQLGHHIGARNIEDDPKMMWSMHVAKIQSDREYKKDFEKWKTKFSSPVDMLGVVLAKKCQTLVSDVDYKNYLHEWTCLPDQNDVIHARQAYDLQSDNIYKSDLQWLRGIGWVPIGSMDVVKCKRAAEILSDNIYRQPPDKLKFTSVTDSLEQVLAKNNALNMNKRLYTEAWDKDKTQVHIMPDTPEIMLARQNKINYSESLYRQAMEEAKKEGYDLRSDAIPIVAAKASRDIASDYKYKEAYRKQLGHHIGARAVHDDPKIMWSLHIAKVQSDREYKKDFEKYKTRYSSPVDMLGIVLAKKCQTLVSDVDYKHPLHEWICLPDQNDIIHARKAYDLQSDNLYKSDLEWMKGIGWVPIDSLEVVRAKRAGELLSDTIYRQRPETLKFTSITDTPEQVLAKNNALNMNKRLYTEAWDNDKKTIHVMPDTPEIMLAKLNRINYSDKLYKLALEESKKEGYDLRLDAIPIQAAKASRDIASDYKYKEGYRKQLGHHIGARNIKDDPKMMWSIHVAKIQSDREYKKEFEKWKTKFSSPVDMLGVVLAKKCQILVSDIDYKHPLHEWTCLPDQNDVIQARKAYDLQSDAIYKSDLEWLRGIGWVPIGSVEVEKVKRAGEILSDRKYRQPADQLKFTCITDTPEIVLAKNNALTMSKHLYTEAWDADKTSIHVMPDTPDILLAKSNSANISQKLYTKGWDESKMKDYDLRADAISIKSAKASRDIASDYKYKEAYEKQKGHHIGAQSIEDDPKIMCAIHAGKIQSEREYKKEFQKWKTKFSSPVDMLSILLAKKCQTLVTDIDYRNYLHEWTCMPDQNDIIQAKKAYDLQSDSVYKADLEWLRGIGWMPEGSVEMNRVKVAQDLVNERLYRTRPEALSFTSIVDTPEVVLAKANSLQISEKLYQEAWNKDKSNITIPSDTPEMLQAHINALQISNKLYQKDWNDAKQKGYDIRADAIEIKHAKASREIASEYKYKEGYRKQLGHHMGFRTLQDDPKSVWAIHAAKIQSDREYKKAYEKSKGIHNTPLDMMSIVQAKKCQVLVSDIDYRNYLHQWTCLPDQNDVIQAKKAYDLQSDNLYKSDLEWLKGIGWLPEGSVEVMRVKNAQNLLNERLYRIKPEALKFTSIVDTPEVIQAKINAVQISEPLYRDAWEKEKANVNVPADTPLMLQSKINALQISNKRYQQAWEDVKMTGYDLRADAIGIQHAKASRDIASDYLYKTAYEKQKGHYIGCRSAKEDPKLVWAANVLKMQNDRLYKKAYNDHKAKISIPVDMVSISAAKEGQALASDVDYRHYLHHWSCFPDQNDVIQARKAYDLQSDSVYKADLEWLRGIGWMPEGSVEMNRVKVAQDLVNERLYRTRPEALSFTSIVDTPEVVLAKANSLQISEKLYQEAWNKDKSNITIPSDTPEMLQAHINALQISNKLYQKDWNDTKQKGYDIRADAIEIKHAKASREIASEYKYKEGYRKQLGHHMGFRTLQDDPKSVWAIHAAKIQSDREYKKAYEKSKGIHNTPLDMMSIVQAKKCQVLVSDIDYRNYLHQWTCLPDQNDVIQAKKAYDLQSDNLYKSDLEWLKGIGWLPEGSVEVMRVKNAQNLLNERLYRIKPEALKFTSIVDTPEVIQAKINAVQISEPLYRNAWEKEKANVNVPADTPLMLQSKINALQISNKRYQQAWEDVKMTGYDLRADAIGIQHAKASRDIASDYLYKTAYEKQKGHYIGCRSAKEDPKLVWAANVLKMQNDRLYKKAYNDHKAKISIPVDMVSISAAKEGQALASDVDYRHYLHHWSCFPDQNDVIQARKAYDLQSDSVYKADLEWLRGIGWMPEGSVEMNRVKVAQDLVNERLYRTRPEALSFTSIVDTPEVVLAKANSLQISEKLYQEAWNKDKSNITIPSDTPEMLQAHINALQISNKLYQKDWNDTKQKGYDIRADAIEIKHAKASREIASEYKYKEGYRKQLGHHMGFRTLQDDPKSVWAIHAAKIQSDREYKKAYEKSKGIHNTPLDMMSIVQAKKCQVLVSDIDYRNYLHQWTCLPDQNDVIQAKKAYDLQSDNLYKSDLEWLKGIGWLPEGSVEVMRVKNAQNLLNERLYRIKPEALKFTSIVDTPEVIQAKINAVQISEPLYRDAWEKEKANVNVPADTPLMLQSKINALQISNKRYQQAWEDVKMTGYDLRADAIGIQHAKASRDIASDYLYKTAYEKQKGHYIGCRSAKEDPKLVWAANVLKMQNDRLYKKAYNDHKAKISIPVDMVSISAAKEGQALASDVDYRHYLHRWSCFPDQNDVIQARKAYDLQSDALYKADLEWLRGIGWMPQGSPEVLRVKNAQNIFCDSVYRTPVVNLKYTSIVDTPEVVLAKSNAENISIPKYREVWDKDKTSIHIMPDTPEINLARANALNVSNKLYREGWDEMKAGCDVRLDAIPIQAAKASREIASDYKYKLDHEKQKGHYVGTLTARDDNKIRWALIADKLQNEREYRLDWAKWKAKIQSPVDMLSILHSKNSQALVSDMDYRNYLHQWTCMPDQNDVIQAKKAYELQSDNVYKADLEWLRGIGWMPNDSVSVNHAKHAADIFSEKKYRTKIETLNFTPVDDRVDYVTAKQSGEILDDIKYRKDWNATKSKYTLTETPLLHTAQEAARILDQYLYKEGWERQKATGYILPPDAVPFVHAHHCNDVQSELKYKAEHVKQKGHYVGVPTMRDDPKLVWFEHAGQIQNERLYKEDYHKTKAKINIPADMVSVLAAKQGQTLVSDIDYRNYLHQWMCHPDQNDVIQARKAYDLQSDNVYRADLEWLRGIGWIPLDSVDHVRVTKNQEMMSQIKYKKNALENYPNFRSVVDPPEIVLAKINSVNQSDVKYKETFNKAKGKYTFSPDTPHISHSKDMGKLYSTILYKGAWEGTKAYGYTLDERYIPIVGAKHADLVNSELKYKETYEKQKGHYLAGKVIGEFPGVVHCLDFQKMRSALNYRKHYEDTKANVHIPNDMMNHVLAKRCQYILSDLEYRHYFHQWTSLLEEPNVIRVRNAQEILSDNVYKDDLNWLKGIGCYVWDTPQILHAKKSYDLQSQLQYTAAGKENLQNYNLVTDTPLYVTAVQSGINASEVKYKENYHQIKDKYTTVLETVDYDRTRNLKNLYSSNLYKEAWDRVKATSYILPSSTLSLTHAKNQKHLASHIKYREEYEKFKALYTLPRSVDDDPNTARCLRVGKLNIDRLYRSVYEKNKMKIHIVPDMVEMVTAKDSQKKVSEIDYRLRLHEWICHPDLQVNDHVRKVTDQISDIVYKDDLNWLKGIGCYVWDTPEILHAKHAYDLRDDIKYKAHMLKTRNDYKLVTDTPVYVQAVKSGKQLSDAVYHYDYVHSVRGKVAPTTKTVDLDRALHAYKLQSSNLYKTSLRTLPTGYRLPGDTPHFKHIKDTRYMSSYFKYKEAYEHTKAYGYTLGPKDVPFVHVRRVNNVTSERLYRELYHKLKDKIHTTPDTPEIRQVKKTQEAVSELIYKSDFFKMQGHMISLPYTPQVIHCRYVGDITSDIKYKEDLQVLKGFGCFLYDTPDMVRSRHLRKLWSNYLYTDKARKMRDKYKVVLDTPEYRKVQELKTHLSELVYRAAGKKQKSIFTSVPDTPDLLRAKRGQKLQSQYLYVELATKERPHHHAGNQTTALKHAKDVKDMVSEKKYKIQYEKMKDKYTPVPDTPILIRAKRAYWNASDLRYKETFQKTKGKYHTVKDALDIVYHRKVTDDISKIKYKENYMSQLGIWRSIPDRPEHFHHRAVTDTVSDVKYKEDLTWLKGIGCYAYDTPDFTLAEKNKTLYSKYKYKEVFERTKSDFKYVADSPINRHFKYATQLMNERKYKSSAKMFLQHGCNEILRPDMLTALYNSHMWSQIKYRKNYEKSKDKFTSIVDTPEHLRTTKVNKQISDILYKLEYNKAKPRGYTTIHDTPMLLHVRKVKDEVSDLKYKEVYQRNKSNCTIEPDAVHIKAAKDAYKVNTNLDYKKQYEANKAHWKWTPDRPDFLQAAKSSLQQSDFEYKLDREFLKGCKLSVTDDKNTVLALRNTLIESDLKYKEKHVKERGTCHAVPDTPQILLAKTVSNLVSENKYKDHVKKHLAQGSYTTLPETRDTVHVKEVTKHVSDTNYKKKFVKEKGKSNYSIMLEPPEVKHAMEVAKKQSDVAYRKDAKENLHYTTVADRPDIKKATQAAKQASEVEYRAKHRKEGSHGLSMLGRPDIEMAKKAAKLSSQVKYRENFDKEKGKTPKYNPKDSQLYKVMKDANNLASEVKYKADLKKLHKPVTDMKESLIMNHVLNTSQLASSYQYKKKYEKSKGHYHTIPDNLEQLHLKEATELQSIVKYKEKYEKERGKPMLDFETPTYITAKESQQMQSGKEYRKDYEESIKGRNLTGLEVTPALLHVKYATKIASEKEYRKDLEESIRGKGLTEMEDTPDMLRAKNATQILNEKEYKRDLELEVKGRGLNAMANETPDFMRARNATDIASQIKYKQSAEMEKANFTSVVDTPEIIHAQQVKNLSSQKKYKEDAEKSMSYYETVLDTPEIQRVRENQKNFSLLQYQCDLKNSKGKITVVQDTPEILRVKENQKNFSSVLYKEDVSPGTAIGKTPEMMRVKQTQDHISSVKYKEAIGQGTPIPDLPEVKRVKETQKHISSVMYKENLGTGIPTTVTPEIERVKRNQENFSSVLYKENLGKGIPTPITPEMERVKRNQENFSSILYKENLSKGTPLPVTPEMERVKLNQENFSSVLYKENVGKGIPIPITPEMERVKHNQENFSSVLYKENLGTGIPIPITPEMQRVKHNQENLSSVLYKENMGKGTPLPVTPEMERVKHNQENISSVLYKENMGKGTPLPVTPEMERVKHNQENISSVLYKENMGKGTPLAVTPEMERVKHNQENISSVLYKENVGKATATPVTPEMQRVKRNQENISSVLYKENLGKATPTPFTPEMERVKRNQENFSSVLYKENMRKATPTPVTPEMERAKRNQENISSVLYSDSFRKQIQGKAAYVLDTPEMRRVRETQRHISTVKYHEDFEKHKGCFTPVVTDPITERVKKNMQDFSDINYRGIQRKVVEMEQKRNDQDQETITGLRVWRTNPGSVFDYDPAEDNIQSRSLHMINVQAQRRSREQSRSASALSISGGEEKSEHSEAPDHHLSTYSDGGVFAVSTAYKHAKTTELPQQRSSSVATQQTTVSSIPSHPSTAGKIFRAMYDYMAADADEVSFKDGDAIINVQAIDEGWMYGTVQRTGRTGMLPANYVEAI", "length": 8525, "header": "sp|P20929-2|NEBU_HUMAN Isoform 2 of Nebulin OS=Homo sapiens OX=9606 GN=NEB PE=1 SV=6 CANONICAL=P20929-2" }, "locus": { "chromosome": "2", "start_pos": 151733156, "end_pos": 151485763, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000397345.8", "url": "https://www.ensembl.org/id/ENST00000397345.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000380505.3", "url": "https://www.ensembl.org/id/ENSP00000380505.3" } ] } }, { "isoform_ac": "P20929-3", "url": "https://www.uniprot.org/uniprotkb/P20929/entry#P20929-3", "sequence": { "sequence": "MADDEDYEEVVEYYTEEVVYEEVPGETITKIYETTTTRTSDYEQSETSKPALAQPALAQPASAKPVERRKVIRKKVDPSKFMTPYIAHSQKMQDLFSPNKYKEKFEKTKGQPYASTTDTPELRRIKKVQDQLSEVKYRMDGDVAKTICHVDEKAKDIEHAKKVSQQVSKVLYKQNWEDTKDKYLLPPDAPELVQAVKNTAMFSKKLYTEDWEADKSLFYPYNDSPELRRVAQAQKALSDVAYKKGLAEQQAQFTPLADPPDIEFAKKVTNQVSKQKYKEDYENKIKGKWSETPCFEVANARMNADNISTRKYQEDFENMKDQIYFMQTETPEYKMNKKAGVAASKVKYKEDYEKNKGKADYNVLPASENPQLRQLKAAGDALSDKLYKENYEKTKAKSINYCETPKFKLDTVLQNFSSDKKYKDSYLKDILGHYVGSFEDPYHSHCMKVTAQNSDKNYKAEYEEDRGKGFFPQTITQEYEAIKKLDQCKDHTYKVHPDKTKFTQVTDSPVLLQAQVNSKQLSDLNYKAKHESEKFKCHIPPDTPAFIQHKVNAYNLSDNLYKQDWEKSKAKKFDIKVDAIPLLAAKANTKNTSDVMYKKDYEKNKGKMIGVLSINDDPKMLHSLKVAKNQSDRLYKENYEKTKAKSMNYCETPKYQLDTQLKNFSEARYKDLYVKDVLGHYVGSMEDPYHTHCMKVAAQNSDKSYKAEYEEDKGKCYFPQTITQEYEAIKKLDQCKDHTYKVHPDKTKFTAVTDSPVLLQAQLNTKQLSDLNYKAKHEGEKFKCHIPADAPQFIQHRVNAYNLSDNVYKQDWEKSKAKKFDIKVDAIPLLAAKANTKNTSDVMYKKDYEKSKGKMIGALSINDDPKMLHSLKTAKNQSDREYRKDYEKSKTIYTAPLDMLQVTQAKKSQAIASDVDYKHILHSYSYPPDSINVDLAKKAYALQSDVEYKADYNSWMKGCGWVPFGSLEMEKAKRASDILNEKKYRQHPDTLKFTSIEDAPITVQSKINQAQRSDIAYKAKGEEIIHKYNLPPDLPQFIQAKVNAYNISENMYKADLKDLSKKGYDLRTDAIPIRAAKAARQAASDVQYKKDYEKAKGKMVGFQSLQDDPKLVHYMNVAKIQSDREYKKDYEKTKSKYNTPHDMFNVVAAKKAQDVVSNVNYKHSLHHYTYLPDAMDLELSKNMMQIQSDNVYKEDYNNWMKGIGWIPIGSLDVEKVKKAGDALNEKKYRQHPDTLKFTSIVDSPVMVQAKQNTKQVSDILYKAKGEDVKHKYTMSPDLPQFLQAKCNAYNISDVCYKRDWYDLIAKGNNVLGDAIPITAAKASRNIASDYKYKEAYEKSKGKHVGFRSLQDDPKLVHYMNVAKLQSDREYKKNYENTKTSYHTPGDMVSITAAKMAQDVATNVNYKQPLHHYTYLPDAMSLEHTRNVNQIQSDNVYKDEYNSFLKGIGWIPIGSLEVEKVKKAGDALNERKYRQHPDTVKFTSVPDSMGMVLAQHNTKQLSDLNYKVEGEKLKHKYTIDPELPQFIQAKVNALNMSDAHYKADWKKTIAKGYDLRPDAIPIVAAKSSRNIASDCKYKEAYEKAKGKQVGFLSLQDDPKLVHYMNVAKIQSDREYKKGYEASKTKYHTPLDMVSVTAAKKSQEVATNANYRQSYHHYTLLPDALNVEHSRNAMQIQSDNLYKSDFTNWMKGIGWVPIESLEVEKAKKAGEILSEKKYRQHPEKLKFTYAMDTMEQALNKSNKLNMDKRLYTEKWNKDKTTIHVMPDTPDILLSRVNQITMSDKLYKAGWEEEKKKGYDLRPDAIAIKAARASRDIASDYKYKKAYEQAKGKHIGFRSLEDDPKLVHFMQVAKMQSDREYKKGYEKSKTSFHTPVDMLSVVAAKKSQEVATNANYRNVIHTYNMLPDAMSFELAKNMMQIQSDNQYKADYADFMKGIGWLPLGSLEAEKNKKAMEIISEKKYRQHPDTLKYSTLMDSMNMVLAQNNAKIMNEHLYKQAWEADKTKVHIMPDIPQIILAKANAINMSDKLYKLSLEESKKKGYDLRPDAIPIKAAKASRDIASDYKYKYNYEKGKGKMVGFRSLEDDPKLVHSMQVAKMQSDREYKKNYENTKTSYHTPADMLSVTAAKDAQANITNTNYKHLIHKYILLPDAMNIELTRNMNRIQSDNEYKQDYNEWYKGLGWSPAGSLEVEKAKKATEYASDQKYRQHPSNFQFKKLTDSMDMVLAKQNAHTMNKHLYTIDWNKDKTKIHVMPDTPDILQAKQNQTLYSQKLYKLGWEEALKKGYDLPVDAISVQLAKASRDIASDYKYKQGYRKQLGHHVGFRSLQDDPKLVLSMNVAKMQSEREYKKDFEKWKTKFSSPVDMLGVVLAKKCQELVSDVDYKNYLHQWTCLPDQNDVVQAKKVYELQSENLYKSDLEWLRGIGWSPLGSLEAEKNKRASEIISEKKYRQPPDRNKFTSIPDAMDIVLAKTNAKNRSDRLYREAWDKDKTQIHIMPDTPDIVLAKANLINTSDKLYRMGYEELKRKGYDLPVDAIPIKAAKASREIASEYKYKEGFRKQLGHHIGARNIEDDPKMMWSMHVAKIQSDREYKKDFEKWKTKFSSPVDMLGVVLAKKCQTLVSDVDYKNYLHQWTCLPDQSDVIHARQAYDLQSDNLYKSDLQWLKGIGWMTSGSLEDEKNKRATQILSDHVYRQHPDQFKFSSLMDSIPMVLAKNNAITMNHRLYTEAWDKDKTTVHIMPDTPEVLLAKQNKVNYSEKLYKLGLEEAKRKGYDMRVDAIPIKAAKASRDIASEFKYKEGYRKQLGHHIGARAIRDDPKMMWSMHVAKIQSDREYKKDFEKWKTKFSSPVDMLGVVLAKKCQTLVSDVDYKNYLHQWTCLPDQSDVIHARQAYDLQSDNMYKSDLQWMRGIGWVSIGSLDVEKCKRATEILSDKIYRQPPDRFKFTSVTDSLEQVLAKNNAITMNKRLYTEAWDKDKTQIHIMPDTPEIMLARMNKINYSESLYKLANEEAKKKGYDLRSDAIPIVAAKASRDIISDYKYKDGYCKQLGHHIGARNIEDDPKMMWSMHVAKIQSDREYKKDFEKWKTKFSSPVDMLGVVLAKKCQTLVSDVDYKNYLHEWTCLPDQSDVIHARQAYDLQSDNIYKSDLQWLRGIGWVPIGSMDVVKCKRATEILSDNIYRQPPDKLKFTSVTDSLEQVLAKNNALNMNKRLYTEAWDKDKTQIHIMPDTPEIMLARQNKINYSETLYKLANEEAKKKGYDLRSDAIPIVAAKASRDVISDYKYKDGYRKQLGHHIGARNIEDDPKMMWSMHVAKIQSDREYKKDFEKWKTKFSSPVDMLGVVLAKKCQTLVSDVDYKNYLHEWTCLPDQNDVIHARQAYDLQSDNIYKSDLQWLRGIGWVPIGSMDVVKCKRAAEILSDNIYRQPPDKLKFTSVTDSLEQVLAKNNALNMNKRLYTEAWDKDKTQVHIMPDTPEIMLARQNKINYSESLYRQAMEEAKKEGYDLRSDAIPIVAAKASRDIASDYKYKEAYRKQLGHHIGARAVHDDPKIMWSLHIAKVQSDREYKKDFEKYKTRYSSPVDMLGIVLAKKCQTLVSDVDYKHPLHEWICLPDQNDIIHARKAYDLQSDNLYKSDLEWMKGIGWVPIDSLEVVRAKRAGELLSDTIYRQRPETLKFTSITDTPEQVLAKNNALNMNKRLYTEAWDNDKKTIHVMPDTPEIMLAKLNRINYSDKLYKLALEESKKEGYDLRLDAIPIQAAKASRDIASDYKYKEGYRKQLGHHIGARNIKDDPKMMWSIHVAKIQSDREYKKEFEKWKTKFSSPVDMLGVVLAKKCQILVSDIDYKHPLHEWTCLPDQNDVIQARKAYDLQSDAIYKSDLEWLRGIGWVPIGSVEVEKVKRAGEILSDRKYRQPADQLKFTCITDTPEIVLAKNNALTMSKHLYTEAWDADKTSIHVMPDTPDILLAKSNSANISQKLYTKGWDESKMKDYDLRADAISIKSAKASRDIASDYKYKEAYEKQKGHHIGAQSIEDDPKIMCAIHAGKIQSEREYKKEFQKWKTKFSSPVDMLSILLAKKCQTLVTDIDYRNYLHEWTCMPDQNDIIQAKKAYDLQSDSVYKADLEWLRGIGWMPEGSVEMNRVKVAQDLVNERLYRTRPEALSFTSIVDTPEVVLAKANSLQISEKLYQEAWNKDKSNITIPSDTPEMLQAHINALQISNKLYQKDWNDAKQKGYDIRADAIEIKHAKASREIASEYKYKEGYRKQLGHHMGFRTLQDDPKSVWAIHAAKIQSDREYKKAYEKSKGIHNTPLDMMSIVQAKKCQVLVSDIDYRNYLHQWTCLPDQNDVIQAKKAYDLQSDNLYKSDLEWLKGIGWLPEGSVEVMRVKNAQNLLNERLYRIKPEALKFTSIVDTPEVIQAKINAVQISEPLYRDAWEKEKANVNVPADTPLMLQSKINALQISNKRYQQAWEDVKMTGYDLRADAIGIQHAKASRDIASDYLYKTAYEKQKGHYIGCRSAKEDPKLVWAANVLKMQNDRLYKKAYNDHKAKISIPVDMVSISAAKEGQALASDVDYRHYLHHWSCFPDQNDVIQARKAYDLQSDSVYKADLEWLRGIGWMPEGSVEMNRVKVAQDLVNERLYRTRPEALSFTSIVDTPEVVLAKANSLQISEKLYQEAWNKDKSNITIPSDTPEMLQAHINALQISNKLYQKDWNDTKQKGYDIRADAIEIKHAKASREIASEYKYKEGYRKQLGHHMGFRTLQDDPKSVWAIHAAKIQSDREYKKAYEKSKGIHNTPLDMMSIVQAKKCQVLVSDIDYRNYLHQWTCLPDQNDVIQAKKAYDLQSDNLYKSDLEWLKGIGWLPEGSVEVMRVKNAQNLLNERLYRIKPEALKFTSIVDTPEVIQAKINAVQISEPLYRNAWEKEKANVNVPADTPLMLQSKINALQISNKRYQQAWEDVKMTGYDLRADAIGIQHAKASRDIASDYLYKTAYEKQKGHYIGCRSAKEDPKLVWAANVLKMQNDRLYKKAYNDHKAKISIPVDMVSISAAKEGQALASDVDYRHYLHHWSCFPDQNDVIQARKAYDLQSDSVYKADLEWLRGIGWMPEGSVEMNRVKVAQDLVNERLYRTRPEALSFTSIVDTPEVVLAKANSLQISEKLYQEAWNKDKSNITIPSDTPEMLQAHINALQISNKLYQKDWNDTKQKGYDIRADAIEIKHAKASREIASEYKYKEGYRKQLGHHMGFRTLQDDPKSVWAIHAAKIQSDREYKKAYEKSKGIHNTPLDMMSIVQAKKCQVLVSDIDYRNYLHQWTCLPDQNDVIQAKKAYDLQSDNLYKSDLEWLKGIGWLPEGSVEVMRVKNAQNLLNERLYRIKPEALKFTSIVDTPEVIQAKINAVQISEPLYRDAWEKEKANVNVPADTPLMLQSKINALQISNKRYQQAWEDVKMTGYDLRADAIGIQHAKASRDIASDYLYKTAYEKQKGHYIGCRSAKEDPKLVWAANVLKMQNDRLYKKAYNDHKAKISIPVDMVSISAAKEGQALASDVDYRHYLHRWSCFPDQNDVIQARKAYDLQSDALYKADLEWLRGIGWMPQGSPEVLRVKNAQNIFCDSVYRTPVVNLKYTSIVDTPEVVLAKSNAENISIPKYREVWDKDKTSIHIMPDTPEINLARANALNVSNKLYREGWDEMKAGCDVRLDAIPIQAAKASREIASDYKYKLDHEKQKGHYVGTLTARDDNKIRWALIADKLQNEREYRLDWAKWKAKIQSPVDMLSILHSKNSQALVSDMDYRNYLHQWTCMPDQNDVIQAKKAYELQSDNVYKADLEWLRGIGWMPNDSVSVNHAKHAADIFSEKKYRTKIETLNFTPVDDRVDYVTAKQSGEILDDIKYRKDWNATKSKYTLTETPLLHTAQEAARILDQYLYKEGWERQKATGYILPPDAVPFVHAHHCNDVQSELKYKAEHVKQKGHYVGVPTMRDDPKLVWFEHAGQIQNERLYKEDYHKTKAKINIPADMVSVLAAKQGQTLVSDIDYRNYLHQWMCHPDQNDVIQARKAYDLQSDNVYRADLEWLRGIGWIPLDSVDHVRVTKNQEMMSQIKYKKNALENYPNFRSVVDPPEIVLAKINSVNQSDVKYKETFNKAKGKYTFSPDTPHISHSKDMGKLYSTILYKGAWEGTKAYGYTLDERYIPIVGAKHADLVNSELKYKETYEKQKGHYLAGKVIGEFPGVVHCLDFQKMRSALNYRKHYEDTKANVHIPNDMMNHVLAKRCQYILSDLEYRHYFHQWTSLLEEPNVIRVRNAQEILSDNVYKDDLNWLKGIGCYVWDTPQILHAKKSYDLQSQLQYTAAGKENLQNYNLVTDTPLYVTAVQSGINASEVKYKENYHQIKDKYTTVLETVDYDRTRNLKNLYSSNLYKEAWDRVKATSYILPSSTLSLTHAKNQKHLASHIKYREEYEKFKALYTLPRSVDDDPNTARCLRVGKLNIDRLYRSVYEKNKMKIHIVPDMVEMVTAKDSQKKVSEIDYRLRLHEWICHPDLQVNDHVRKVTDQISDIVYKDDLNWLKGIGCYVWDTPEILHAKHAYDLRDDIKYKAHMLKTRNDYKLVTDTPVYVQAVKSGKQLSDAVYHYDYVHSVRGKVAPTTKTVDLDRALHAYKLQSSNLYKTSLRTLPTGYRLPGDTPHFKHIKDTRYMSSYFKYKEAYEHTKAYGYTLGPKDVPFVHVRRVNNVTSERLYRELYHKLKDKIHTTPDTPEIRQVKKTQEAVSELIYKSDFFKMQGHMISLPYTPQVIHCRYVGDITSDIKYKEDLQVLKGFGCFLYDTPDMVRSRHLRKLWSNYLYTDKARKMRDKYKVVLDTPEYRKVQELKTHLSELVYRAAGKKQKSIFTSVPDTPDLLRAKRGQKLQSQYLYVELATKERPHHHAGNQTTALKHAKDVKDMVSEKKYKIQYEKMKDKYTPVPDTPILIRAKRAYWNASDLRYKETFQKTKGKYHTVKDALDIVYHRKVTDDISKIKYKENYMSQLGIWRSIPDRPEHFHHRAVTDTVSDVKYKEDLTWLKGIGCYAYDTPDFTLAEKNKTLYSKYKYKEVFERTKSDFKYVADSPINRHFKYATQLMNEKKYRADYEQRKDKYHLVVDEPRHLLAKTAGDQISQIKYRKNYEKSKDKFTSIVDTPEHLRTTKVNKQISDILYKLEYNKAKPRGYTTIHDTPMLLHVRKVKDEVSDLKYKEVYQRNKSNCTIEPDAVHIKAAKDAYKVNTNLDYKKQYEANKAHWKWTPDRPDFLQAAKSSLQQSDFEYKLDREFLKGCKLSVTDDKNTVLALRNTLIESDLKYKEKHVKERGTCHAVPDTPQILLAKTVSNLVSENKYKDHVKKHLAQGSYTTLPETRDTVHVKEVTKHVSDTNYKKKFVKEKGKSNYSIMLEPPEVKHAMEVAKKQSDVAYRKDAKENLHYTTVADRPDIKKATQAAKQASEVEYRAKHRKEGSHGLSMLGRPDIEMAKKAAKLSSQVKYRENFDKEKGKTPKYNPKDSQLYKVMKDANNLASEVKYKADLKKLHKPVTDMKESLIMNHVLNTSQLASSYQYKKKYEKSKGHYHTIPDNLEQLHLKEATELQSIVKYKEKYEKERGKPMLDFETPTYITAKESQQMQSGKEYRKDYEESIKGRNLTGLEVTPALLHVKYATKIASEKEYRKDLEESIRGKGLTEMEDTPDMLRAKNATQILNEKEYKRDLELEVKGRGLNAMANETPDFMRARNATDIASQIKYKQSAEMEKANFTSVVDTPEIIHAQQVKNLSSQKKYKEDAEKSMSYYETVLDTPEIQRVRENQKNFSLLQYQCDLKNSKGKITVVQDTPEILRVKENQKNFSSVLYKEDVSPGTAIGKTPEMMRVKQTQDHISSVKYKEAIGQGTPIPDLPEVKRVKETQKHISSVMYKENLGTGIPTTVTPEIERVKRNQENFSSVLYKENLGKGIPTPITPEMERVKRNQENFSSILYKENLSKGTPLPVTPEMERVKLNQENFSSVLYKENVGKGIPIPITPEMERVKHNQENFSSVLYKENLGTGIPIPITPEMQRVKHNQENLSSVLYKENMGKGTPLPVTPEMERVKHNQENISSVLYKENMGKGTPLPVTPEMERVKHNQENISSVLYKENMGKGTPLAVTPEMERVKHNQENISSVLYKENVGKATATPVTPEMQRVKRNQENISSVLYKENLGKATPTPFTPEMERVKRNQENFSSVLYKENMRKATPTPVTPEMERAKRNQENISSVLYSDSFRKQIQGKAAYVLDTPEMRRVRETQRHISTVKYHEDFEKHKGCFTPVVTDPITERVKKNMQDFSDINYRGIQRKVVEMEQKRNDQDQETITGLRVWRTNPGSVFDYDPAEDNIQSRSLHMINVQAQRRSREQSRSASALSISGGEEKSEHSEAPDHHLSTYSDGGVFAVSTAYKHAKTTELPQQRSSSVATQQTTVSSIPSHPSTAGKIFRAMYDYMAADADEVSFKDGDAIINVQAIDEGWMYGTVQRTGRTGMLPANYVEAI", "length": 8525, "header": "sp|P20929-3|NEBU_HUMAN Isoform 3 of Nebulin OS=Homo sapiens OX=9606 GN=NEB PE=1 SV=6 CANONICAL=P20929-2" }, "locus": { "chromosome": "2", "start_pos": 151733156, "end_pos": 151485763, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000427231.7", "url": "https://www.ensembl.org/id/ENST00000427231.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000416578.2", "url": "https://www.ensembl.org/id/ENSP00000416578.2" } ] } }, { "isoform_ac": "P20929-4", "url": "https://www.uniprot.org/uniprotkb/P20929/entry#P20929-4", "sequence": { "sequence": "MADDEDYEEVVEYYTEEVVYEEVPGETITKIYETTTTRTSDYEQSETSKPALAQPALAQPASAKPVERRKVIRKKVDPSKFMTPYIAHSQKMQDLFSPNKYKEKFEKTKGQPYASTTDTPELRRIKKVQDQLSEVKYRMDGDVAKTICHVDEKAKDIEHAKKVSQQVSKVLYKQNWEDTKDKYLLPPDAPELVQAVKNTAMFSKKLYTEDWEADKSLFYPYNDSPELRRVAQAQKALSDVAYKKGLAEQQAQFTPLADPPDIEFAKKVTNQVSKQKYKEDYENKIKGKWSETPCFEVANARMNADNISTRKYQEDFENMKDQIYFMQTETPEYKMNKKAGVAASKVKYKEDYEKNKGKADYNVLPASENPQLRQLKAAGDALSDKLYKENYEKTKAKSINYCETPKFKLDTVLQNFSSDKKYKDSYLKDILGHYVGSFEDPYHSHCMKVTAQNSDKNYKAEYEEDRGKGFFPQTITQEYEAIKKLDQCKDHTYKVHPDKTKFTQVTDSPVLLQAQVNSKQLSDLNYKAKHESEKFKCHIPPDTPAFIQHKVNAYNLSDNLYKQDWEKSKAKKFDIKVDAIPLLAAKANTKNTSDVMYKKDYEKNKGKMIGVLSINDDPKMLHSLKVAKNQSDRLYKENYEKTKAKSMNYCETPKYQLDTQLKNFSEARYKDLYVKDVLGHYVGSMEDPYHTHCMKVAAQNSDKSYKAEYEEDKGKCYFPQTITQEYEAIKKLDQCKDHTYKVHPDKTKFTAVTDSPVLLQAQLNTKQLSDLNYKAKHEGEKFKCHIPADAPQFIQHRVNAYNLSDNVYKQDWEKSKAKKFDIKVDAIPLLAAKANTKNTSDVMYKKDYEKSKGKMIGALSINDDPKMLHSLKTAKNQSDREYRKDYEKSKTIYTAPLDMLQVTQAKKSQAIASDVDYKHILHSYSYPPDSINVDLAKKAYALQSDVEYKADYNSWMKGCGWVPFGSLEMEKAKRASDILNEKKYRQHPDTLKFTSIEDAPITVQSKINQAQRSDIAYKAKGEEIIHKYNLPPDLPQFIQAKVNAYNISENMYKADLKDLSKKGYDLRTDAIPIRAAKAARQAASDVQYKKDYEKAKGKMVGFQSLQDDPKLVHYMNVAKIQSDREYKKDYEKTKSKYNTPHDMFNVVAAKKAQDVVSNVNYKHSLHHYTYLPDAMDLELSKNMMQIQSDNVYKEDYNNWMKGIGWIPIGSLDVEKVKKAGDALNEKKYRQHPDTLKFTSIVDSPVMVQAKQNTKQVSDILYKAKGEDVKHKYTMSPDLPQFLQAKCNAYNISDVCYKRDWYDLIAKGNNVLGDAIPITAAKASRNIASDYKYKEAYEKSKGKHVGFRSLQDDPKLVHYMNVAKLQSDREYKKNYENTKTSYHTPGDMVSITAAKMAQDVATNVNYKQPLHHYTYLPDAMSLEHTRNVNQIQSDNVYKDEYNSFLKGIGWIPIGSLEVEKVKKAGDALNERKYRQHPDTVKFTSVPDSMGMVLAQHNTKQLSDLNYKVEGEKLKHKYTIDPELPQFIQAKVNALNMSDAHYKADWKKTIAKGYDLRPDAIPIVAAKSSRNIASDCKYKEAYEKAKGKQVGFLSLQDDPKLVHYMNVAKIQSDREYKKGYEASKTKYHTPLDMVSVTAAKKSQEVATNANYRQSYHHYTLLPDALNVEHSRNAMQIQSDNLYKSDFTNWMKGIGWVPIESLEVEKAKKAGEILSEKKYRQHPEKLKFTYAMDTMEQALNKSNKLNMDKRLYTEKWNKDKTTIHVMPDTPDILLSRVNQITMSDKLYKAGWEEEKKKGYDLRPDAIAIKAARASRDIASDYKYKKAYEQAKGKHIGFRSLEDDPKLVHFMQVAKMQSDREYKKGYEKSKTSFHTPVDMLSVVAAKKSQEVATNANYRNVIHTYNMLPDAMSFELAKNMMQIQSDNQYKADYADFMKGIGWLPLGSLEAEKNKKAMEIISEKKYRQHPDTLKYSTLMDSMNMVLAQNNAKIMNEHLYKQAWEADKTKVHIMPDIPQIILAKANAINMSDKLYKLSLEESKKKGYDLRPDAIPIKAAKASRDIASDYKYKYNYEKGKGKMVGFRSLEDDPKLVHSMQVAKMQSDREYKKNYENTKTSYHTPADMLSVTAAKDAQANITNTNYKHLIHKYILLPDAMNIELTRNMNRIQSDNEYKQDYNEWYKGLGWSPAGSLEVEKAKKATEYASDQKYRQHPSNFQFKKLTDSMDMVLAKQNAHTMNKHLYTIDWNKDKTKIHVMPDTPDILQAKQNQTLYSQKLYKLGWEEALKKGYDLPVDAISVQLAKASRDIASDYKYKQGYRKQLGHHVGFRSLQDDPKLVLSMNVAKMQSEREYKKDFEKWKTKFSSPVDMLGVVLAKKCQELVSDVDYKNYLHQWTCLPDQNDVVQAKKVYELQSENLYKSDLEWLRGIGWSPLGSLEAEKNKRASEIISEKKYRQPPDRNKFTSIPDAMDIVLAKTNAKNRSDRLYREAWDKDKTQIHIMPDTPDIVLAKANLINTSDKLYRMGYEELKRKGYDLPVDAIPIKAAKASREIASEYKYKEGFRKQLGHHIGARNIEDDPKMMWSMHVAKIQSDREYKKDFEKWKTKFSSPVDMLGVVLAKKCQTLVSDVDYKNYLHQWTCLPDQSDVIHARQAYDLQSDNLYKSDLQWLKGIGWMTSGSLEDEKNKRATQILSDHVYRQHPDQFKFSSLMDSIPMVLAKNNAITMNHRLYTEAWDKDKTTVHIMPDTPEVLLAKQNKVNYSEKLYKLGLEEAKRKGYDMRVDAIPIKAAKASRDIASEFKYKEGYRKQLGHHIGARAIRDDPKMMWSMHVAKIQSDREYKKDFEKWKTKFSSPVDMLGVVLAKKCQTLVSDVDYKNYLHQWTCLPDQSDVIHARQAYDLQSDNMYKSDLQWMRGIGWVSIGSLDVEKCKRATEILSDKIYRQPPDRFKFTSVTDSLEQVLAKNNALNMNKRLYTEAWDKDKTQIHIMPDTPEIMLARQNKINYSETLYKLANEEAKKKGYDLRSDAIPIVAAKASRDVISDYKYKDGYRKQLGHHIGARNIEDDPKMMWSMHVAKIQSDREYKKDFEKWKTKFSSPVDMLGVVLAKKCQTLVSDVDYKNYLHEWTCLPDQNDVIHARQAYDLQSDNIYKSDLQWLRGIGWVPIGSMDVVKCKRAAEILSDNIYRQPPDKLKFTSVTDSLEQVLAKNNALNMNKRLYTEAWDKDKTQVHIMPDTPEIMLARQNKINYSESLYRQAMEEAKKEGYDLRSDAIPIVAAKASRDIASDYKYKEAYRKQLGHHIGARAVHDDPKIMWSLHIAKVQSDREYKKDFEKYKTRYSSPVDMLGIVLAKKCQTLVSDVDYKHPLHEWICLPDQNDIIHARKAYDLQSDNLYKSDLEWMKGIGWVPIDSLEVVRAKRAGELLSDTIYRQRPETLKFTSITDTPEQVLAKNNALNMNKRLYTEAWDNDKKTIHVMPDTPEIMLAKLNRINYSDKLYKLALEESKKEGYDLRLDAIPIQAAKASRDIASDYKYKEGYRKQLGHHIGARNIKDDPKMMWSIHVAKIQSDREYKKEFEKWKTKFSSPVDMLGVVLAKKCQILVSDIDYKHPLHEWTCLPDQNDVIQARKAYDLQSDAIYKSDLEWLRGIGWVPIGSVEVEKVKRAGEILSDRKYRQPADQLKFTCITDTPEIVLAKNNALTMSKHLYTEAWDADKTSIHVMPDTPDILLAKSNSANISQKLYTKGWDESKMKDYDLRADAISIKSAKASRDIASDYKYKEAYEKQKGHHIGAQSIEDDPKIMCAIHAGKIQSEREYKKEFQKWKTKFSSPVDMLSILLAKKCQTLVTDIDYRNYLHEWTCMPDQNDIIQAKKAYDLQSDALYKADLEWLRGIGWMPQGSPEVLRVKNAQNIFCDSVYRTPVVNLKYTSIVDTPEVVLAKSNAENISIPKYREVWDKDKTSIHIMPDTPEINLARANALNVSNKLYREGWDEMKAGCDVRLDAIPIQAAKASREIASDYKYKLDHEKQKGHYVGTLTARDDNKIRWALIADKLQNEREYRLDWAKWKAKIQSPVDMLSILHSKNSQALVSDMDYRNYLHQWTCMPDQNDVIQAKKAYELQSDNVYKADLEWLRGIGWMPNDSVSVNHAKHAADIFSEKKYRTKIETLNFTPVDDRVDYVTAKQSGEILDDIKYRKDWNATKSKYTLTETPLLHTAQEAARILDQYLYKEGWERQKATGYILPPDAVPFVHAHHCNDVQSELKYKAEHVKQKGHYVGVPTMRDDPKLVWFEHAGQIQNERLYKEDYHKTKAKINIPADMVSVLAAKQGQTLVSDIDYRNYLHQWMCHPDQNDVIQARKAYDLQSDNVYRADLEWLRGIGWIPLDSVDHVRVTKNQEMMSQIKYKKNALENYPNFRSVVDPPEIVLAKINSVNQSDVKYKETFNKAKGKYTFSPDTPHISHSKDMGKLYSTILYKGAWEGTKAYGYTLDERYIPIVGAKHADLVNSELKYKETYEKQKGHYLAGKVIGEFPGVVHCLDFQKMRSALNYRKHYEDTKANVHIPNDMMNHVLAKRCQYILSDLEYRHYFHQWTSLLEEPNVIRVRNAQEILSDNVYKDDLNWLKGIGCYVWDTPQILHAKKSYDLQSQLQYTAAGKENLQNYNLVTDTPLYVTAVQSGINASEVKYKENYHQIKDKYTTVLETVDYDRTRNLKNLYSSNLYKEAWDRVKATSYILPSSTLSLTHAKNQKHLASHIKYREEYEKFKALYTLPRSVDDDPNTARCLRVGKLNIDRLYRSVYEKNKMKIHIVPDMVEMVTAKDSQKKVSEIDYRLRLHEWICHPDLQVNDHVRKVTDQISDIVYKDDLNWLKGIGCYVWDTPEILHAKHAYDLRDDIKYKAHMLKTRNDYKLVTDTPVYVQAVKSGKQLSDAVYHYDYVHSVRGKVAPTTKTVDLDRALHAYKLQSSNLYKTSLRTLPTGYRLPGDTPHFKHIKDTRYMSSYFKYKEAYEHTKAYGYTLGPKDVPFVHVRRVNNVTSERLYRELYHKLKDKIHTTPDTPEIRQVKKTQEAVSELIYKSDFFKMQGHMISLPYTPQVIHCRYVGDITSDIKYKEDLQVLKGFGCFLYDTPDMVRSRHLRKLWSNYLYTDKARKMRDKYKVVLDTPEYRKVQELKTHLSELVYRAAGKKQKSIFTSVPDTPDLLRAKRGQKLQSQYLYVELATKERPHHHAGNQTTALKHAKDVKDMVSEKKYKIQYEKMKDKYTPVPDTPILIRAKRAYWNASDLRYKETFQKTKGKYHTVKDALDIVYHRKVTDDISKIKYKENYMSQLGIWRSIPDRPEHFHHRAVTDTVSDVKYKEDLTWLKGIGCYAYDTPDFTLAEKNKTLYSKYKYKEVFERTKSDFKYVADSPINRHFKYATQLMNEKKYRADYEQRKDKYHLVVDEPRHLLAKTAGDQISQIKYRKNYEKSKDKFTSIVDTPEHLRTTKVNKQISDILYKLEYNKAKPRGYTTIHDTPMLLHVRKVKDEVSDLKYKEVYQRNKSNCTIEPDAVHIKAAKDAYKVNTNLDYKKQYEANKAHWKWTPDRPDFLQAAKSSLQQSDFEYKLDREFLKGCKLSVTDDKNTVLALRNTLIESDLKYKEKHVKERGTCHAVPDTPQILLAKTVSNLVSENKYKDHVKKHLAQGSYTTLPETRDTVHVKEVTKHVSDTNYKKKFVKEKGKSNYSIMLEPPEVKHAMEVAKKQSDVAYRKDAKENLHYTTVADRPDIKKATQAAKQASEVEYRAKHRKEGSHGLSMLGRPDIEMAKKAAKLSSQVKYRENFDKEKGKTPKYNPKDSQLYKVMKDANNLASEVKYKADLKKLHKPVTDMKESLIMNHVLNTSQLASSYQYKKKYEKSKGHYHTIPDNLEQLHLKEATELQSIVKYKEKYEKERGKPMLDFETPTYITAKESQQMQSGKEYRKDYEESIKGRNLTGLEVTPALLHVKYATKIASEKEYRKDLEESIRGKGLTEMEDTPDMLRAKNATQILNEKEYKRDLELEVKGRGLNAMANETPDFMRARNATDIASQIKYKQSAEMEKANFTSVVDTPEIIHAQQVKNLSSQKKYKEDAEKSMSYYETVLDTPEIQRVRENQKNFSLLQYQCDLKNSKGKITVVQDTPEILRVKENQKNFSSVLYKEDVSPGTAIGKTPEMMRVKQTQDHISSVKYKEAIGQGTPIPDLPEVKRVKETQKHISSVMYKENLGTGIPTTVTPEIERVKRNQENFSSVLYKENLGKGIPTPITPEMERVKRNQENFSSVLYKENMGKGTPLAVTPEMERVKHNQENISSVLYKENVGKATATPVTPEMQRVKRNQENISSVLYKENLGKATPTPFTPEMERVKRNQENFSSVLYKENMRKATPTPVTPEMERAKRNQENISSVLYSDSFRKQIQGKAAYVLDTPEMRRVRETQRHISTVKYHEDFEKHKGCFTPVVTDPITERVKKNMQDFSDINYRGIQRKVVEMEQKRNDQDQETITGLRVWRTNPGSVFDYDPAEDNIQSRSLHMINVQAQRRSREQSRSASALSISGGEEKSEHSEAPDHHLSTYSDGGVFAVSTAYKHAKTTELPQQRSSSVATQQTTVSSIPSHPSTAGKIFRAMYDYMAADADEVSFKDGDAIINVQAIDEGWMYGTVQRTGRTGMLPANYVEAI", "length": 6669, "header": "sp|P20929-4|NEBU_HUMAN Isoform 4 of Nebulin OS=Homo sapiens OX=9606 GN=NEB PE=1 SV=6 CANONICAL=P20929-2" }, "locus": { "chromosome": "2", "start_pos": 151733156, "end_pos": 151485763, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000409198.5", "url": "https://www.ensembl.org/id/ENST00000409198.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000386259.1", "url": "https://www.ensembl.org/id/ENSP00000386259.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 1867, "start_aa": "Thr", "end_pos": 1867, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1867", "evidence": [ { "id": "31492838", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31492838" }, { "id": "P20929", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P20929" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "28411811", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28411811" }, { "id": "38253038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38253038" } ], "filter_code": "00000000000000001000.0000000.00000001000000.1000000.0100000000.110100100001111011.10000.01001" }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 1868, "start_aa": "Ser", "end_pos": 1868, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1868", "evidence": [ { "id": "31492838", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31492838" }, { "id": "P20929", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P20929" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "28411811", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28411811" }, { "id": "38253038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38253038" } ], "filter_code": "00000000000000010000.0000000.00000001000000.1000000.0100000000.110100100001111011.10000.01001" }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "Y", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 3804, "start_aa": "Tyr", "end_pos": 3804, "end_aa": "Tyr", "residue": "Tyr", "site_lbl": "Tyr3804", "evidence": [ { "id": "39531497", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39531497" }, { "id": "P20929", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P20929" } ], "filter_code": "00000000000000000010.0000000.00000001000000.1000000.0100000000.110100100001111011.10000.01001" } ], "phosphorylation": [ { "start_pos": 1811, "end_pos": 1811, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "IEDB", "id": "P20929", "url": "https://www.iedb.org/epitope/P20929" }, { "database": "iPTMnet", "id": "P20929", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P20929" }, { "database": "PubMed", "id": "35494241", "url": "https://glygen.org/publication/PubMed/35494241" } ], "site_lbl": "Ser1811" }, { "start_pos": 277, "end_pos": 277, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "IEDB", "id": "P20929", "url": "https://www.iedb.org/epitope/P20929" }, { "database": "iPTMnet", "id": "P20929", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P20929" }, { "database": "PubMed", "id": "35494241", "url": "https://glygen.org/publication/PubMed/35494241" } ], "site_lbl": "Tyr277" }, { "start_pos": 6759, "end_pos": 6759, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "IEDB", "id": "P20929", "url": "https://www.iedb.org/epitope/P20929" }, { "database": "iPTMnet", "id": "P20929", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P20929" }, { "database": "PubMed", "id": "35494241", "url": "https://glygen.org/publication/PubMed/35494241" } ], "site_lbl": "Ser6759" }, { "start_pos": 7177, "end_pos": 7177, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "IEDB", "id": "P20929", "url": "https://www.iedb.org/epitope/P20929" }, { "database": "iPTMnet", "id": "P20929", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P20929" }, { "database": "PubMed", "id": "35494241", "url": "https://glygen.org/publication/PubMed/35494241" } ], "site_lbl": "Tyr7177" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "1999", "authors": "Pelin K, Hilpel\u00e4 P, Donner K, Sewry C, Akkari P A, Wilton S D, Wattanasirichaigoon D, Bang M L, Centner T, Hanefeld F, Odent S, Fardeau M, Urtizberea J A, Muntoni F, Dubowitz V, Beggs A H, Laing N G, Labeit S, de la Chapelle A, Wallgren-Pettersson C", "evidence": [ { "database": "UniProtKB", "id": "P20929", "url": "https://www.uniprot.org/uniprotkb/P20929" } ], "reference": [ { "type": "PubMed", "id": "10051637", "url": "https://glygen.org/publication/PubMed/10051637" } ] }, { "title": "Regulation of contraction in striated muscle.", "journal": "Physiological reviews", "date": "2000", "authors": "Gordon AM, Homsher E, Regnier M", "evidence": [ { "database": "Reactome", "id": "R-HSA-390522", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-390522" } ], "reference": [ { "type": "PubMed", "id": "10747208", "url": "https://glygen.org/publication/PubMed/10747208" } ] }, { "title": "Interaction of nebulin SH3 domain with titin PEVK and myopalladin: implications for the signaling and assembly role of titin and nebulin.", "journal": "FEBS Lett.", "date": "2002", "authors": "Ma K, Wang K", "evidence": [ { "database": "UniProtKB", "id": "P20929", "url": "https://www.uniprot.org/uniprotkb/P20929" } ], "reference": [ { "type": "PubMed", "id": "12482578", "url": "https://glygen.org/publication/PubMed/12482578" } ] }, { "title": "Cloning, expression, and protein interaction of human nebulin fragments composed of varying numbers of sequence modules.", "journal": "J. Biol. Chem.", "date": "1991", "authors": "Jin J P, Wang K", "evidence": [ { "database": "UniProtKB", "id": "P20929", "url": "https://www.uniprot.org/uniprotkb/P20929" } ], "reference": [ { "type": "PubMed", "id": "1682316", "url": "https://glygen.org/publication/PubMed/1682316" } ] }, { "title": "Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathy.", "journal": "Human mutation", "date": "2006", "authors": "Lehtokari VL, Pelin K, Sandbacka M, Ranta S, Donner K, Muntoni F, Sewry C, Angelini C, Bushby K, Van den Bergh P, Iannaccone S, Laing NG, Wallgren-Pettersson C", "evidence": [ { "database": "RefSeq", "id": "NP_001157979", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001157979" } ], "reference": [ { "type": "PubMed", "id": "16917880", "url": "https://glygen.org/publication/PubMed/16917880" } ] }, { "title": "Archvillin anchors in the Z-line of skeletal muscle via the nebulin C-terminus.", "journal": "Biochem. Biophys. Res. Commun.", "date": "2008", "authors": "Lee Min-A, Joo Young Mi, Lee Yeong Mi, Kim Hyun Suk, Kim Ji-Hee, Choi Jae-Kyong, Ahn Seung-Ju, Min Byung-In, Kim Chong-Rak", "evidence": [ { "database": "UniProtKB", "id": "P20929", "url": "https://www.uniprot.org/uniprotkb/P20929" } ], "reference": [ { "type": "PubMed", "id": "18639526", "url": "https://glygen.org/publication/PubMed/18639526" } ] }, { "title": "Novel mutations in NEB cause abnormal nebulin expression and markedly impaired muscle force generation in severe nemaline myopathy.", "journal": "Skelet. Muscle", "date": "2011", "authors": "Lawlor Michael W, Ottenheijm Coen A, Lehtokari Vilma-Lotta, Cho Kiyomi, Pelin Katarina, Wallgren-Pettersson Carina, Granzier Henk, Beggs Alan H", "evidence": [ { "database": "UniProtKB", "id": "P20929", "url": "https://www.uniprot.org/uniprotkb/P20929" } ], "reference": [ { "type": "PubMed", "id": "21798101", "url": "https://glygen.org/publication/PubMed/21798101" } ] }, { "title": "Nebulin binding impedes mutant desmin filament assembly.", "journal": "Mol. Biol. Cell", "date": "2013", "authors": "Baker LK, Gillis DC, Sharma S, Ambrus A, Herrmann H, Conover GM", "evidence": [ { "database": "UniProtKB", "id": "P20929", "url": "https://www.uniprot.org/uniprotkb/P20929" } ], "reference": [ { "type": "PubMed", "id": "23615443", "url": "https://glygen.org/publication/PubMed/23615443" } ] }, { "title": "Identification of Xin-repeat proteins as novel ligands of the SH3 domains of nebulin and nebulette and analysis of their interaction during myofibril formation and remodeling.", "journal": "Mol. Biol. Cell", "date": "2013", "authors": "Eulitz S, Sauer F, Pelissier MC, Boisguerin P, Molt S, Schuld J, Orfanos Z, Kley RA, Volkmer R, Wilmanns M, Kirfel G, van der Ven PF, Furst DO", "evidence": [ { "database": "UniProtKB", "id": "P20929", "url": "https://www.uniprot.org/uniprotkb/P20929" } ], "reference": [ { "type": "PubMed", "id": "23985323", "url": "https://glygen.org/publication/PubMed/23985323" } ] }, { "title": "Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth.", "journal": "Orphanet journal of rare diseases", "date": "2015", "authors": "Todd EJ, Yau KS, Ong R, Slee J, McGillivray G, Barnett CP, Haliloglu G, Talim B, Akcoren Z, Kariminejad A, Cairns A, Clarke NF, Freckmann ML, Romero NB, Williams D, Sewry CA, Colley A, Ryan MM, Kiraly-Borri C, Sivadorai P, Allcock RJ, Beeson D, Maxwell S, Davis MR, Laing NG, Ravenscroft G", "evidence": [ { "database": "UniProtKB", "id": "P20929", "url": "https://www.uniprot.org/uniprotkb/P20929" } ], "reference": [ { "type": "PubMed", "id": "26578207", "url": "https://glygen.org/publication/PubMed/26578207" } ] }, { "title": "A novel strategy for global mapping of O-GlcNAc proteins and peptides using selective enzymatic deglycosylation, HILIC enrichment and mass spectrometry identification.", "journal": "Talanta", "date": "2017", "authors": "Shen B, Zhang W, Shi Z, Tian F, Deng Y, Sun C, Wang G, Qin W, Qian X", "evidence": [ { "database": "O-GlcNAc Database", "id": "P20929", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P20929" } ], "reference": [ { "type": "PubMed", "id": "28411811", "url": "https://glygen.org/publication/PubMed/28411811" } ] }, { "title": "Arthrogryposis and pterygia as lethal end manifestations of genetically defined congenital myopathies.", "journal": "American journal of medical genetics. Part A", "date": "2018", "authors": "Ahmed AA, Skaria P, Safina NP, Thiffault I, Kats A, Taboada E, Habeebu S, Saunders C", "evidence": [ { "database": "UniProtKB", "id": "P20929", "url": "https://www.uniprot.org/uniprotkb/P20929" } ], "reference": [ { "type": "PubMed", "id": "29274205", "url": "https://glygen.org/publication/PubMed/29274205" } ] }, { "title": "A triarylphosphine-trimethylpiperidine reagent for the one-step derivatization and enrichment of protein post-translational modifications and identification by mass spectrometry.", "journal": "Chemical communications (Cambridge, England)", "date": "2018", "authors": "Huo B, Zhang W, Zhao X, Dong H, Yu Y, Wang J, Qian X, Qin W", "evidence": [ { "database": "O-GlcNAc Database", "id": "P20929", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P20929" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "title": "Next-generation unnatural monosaccharides reveal that ESRRB O-GlcNAcylation regulates pluripotency of mouse embryonic stem cells.", "journal": "Nature communications", "date": "2019", "authors": "Hao Y, Fan X, Shi Y, Zhang C, Sun DE, Qin K, Qin W, Zhou W, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "P20929", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P20929" } ], "reference": [ { "type": "PubMed", "id": "31492838", "url": "https://glygen.org/publication/PubMed/31492838" } ] }, { "title": "Cloning and expression of human nebulin cDNAs and assignment of the gene to chromosome 2q31-q32.", "journal": "Genomics", "date": "1988", "authors": "Zeviani M, Darras B T, Rizzuto R, Salviati G, Betto R, Bonilla E, Miranda A F, Du J, Samitt C, Dickson G", "evidence": [ { "database": "UniProtKB", "id": "P20929", "url": "https://www.uniprot.org/uniprotkb/P20929" } ], "reference": [ { "type": "PubMed", "id": "3397062", "url": "https://glygen.org/publication/PubMed/3397062" } ] }, { "title": "Deciphering the landscape of phosphorylated HLA-II ligands.", "journal": "iScience", "date": "2022-05-20", "authors": "Solleder Marthe, Racle Julien, Guillaume Philippe, Coukos George, Bassani-Sternberg Michal, Gfeller David", "evidence": [ { "database": "iPTMnet", "id": "P20929", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P20929" } ], "reference": [ { "type": "PubMed", "id": "35494241", "url": "https://glygen.org/publication/PubMed/35494241" } ] }, { "title": "Studying the O-GlcNAcome of human placentas using banked tissue samples.", "journal": "Glycobiology", "date": "2024-01-22", "authors": "Luna Sarai, Malard Florian, Pereckas Michaela, Aoki Mayumi, Aoki Kazahiro, Olivier-Van Stichelen Stephanie", "evidence": [ { "database": "O-GlcNAc Database", "id": "P20929", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P20929" } ], "reference": [ { "type": "PubMed", "id": "38253038", "url": "https://glygen.org/publication/PubMed/38253038" } ] }, { "title": "Lethal multiple pterygium syndrome, large cystic hygroma, and cleft palate: Rare and severe fetal presentations of RYR1-\u00a0and NEB-related congenital myopathies.", "journal": "Prenatal diagnosis", "date": "2024-04", "authors": "Jackson Molly, Thomas Mary Ann, Suchet Ian, Mahallati Houman, Kuret Verena, Lauzon Julie", "evidence": [ { "database": "RefSeq", "id": "NP_001157979", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001157979" } ], "reference": [ { "type": "PubMed", "id": "38520674", "url": "https://glygen.org/publication/PubMed/38520674" } ] }, { "title": "Characterization of NEB pathogenic variants in patients reveals novel nemaline myopathy disease mechanisms and omecamtiv mecarbil force effects.", "journal": "Acta neuropathologica", "date": "2024-04-18", "authors": "Karimi Esmat, Gohlke Jochen, van der Borgh Mila, Lindqvist Johan, Hourani Zaynab, Kolb Justin, Cossette Stacy, Lawlor Michael W, Ottenheijm Coen, Granzier Henk", "evidence": [ { "database": "RefSeq", "id": "NP_001157979", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001157979" } ], "reference": [ { "type": "PubMed", "id": "38634969", "url": "https://glygen.org/publication/PubMed/38634969" } ] }, { "title": "Ultradeep O-GlcNAc proteomics reveals widespread O-GlcNAcylation on tyrosine residues of proteins.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2024-11-19", "authors": "Hou Chunyan, Deng Jingtao, Wu Ci, Zhang Jing, Byers Stephen, Moremen Kelley W, Pei Huadong, Ma Junfeng", "evidence": [ { "database": "O-GlcNAc Atlas", "id": "P20929", "url": "https://oglcnac.org/atlas/detail/P20929" } ], "reference": [ { "type": "PubMed", "id": "39531497", "url": "https://glygen.org/publication/PubMed/39531497" } ] }, { "title": "The complete primary structure of human nebulin and its correlation to muscle structure.", "journal": "J. Mol. Biol.", "date": "1995", "authors": "Labeit S, Kolmerer B", "evidence": [ { "database": "UniProtKB", "id": "P20929", "url": "https://www.uniprot.org/uniprotkb/P20929" } ], "reference": [ { "type": "PubMed", "id": "7739042", "url": "https://glygen.org/publication/PubMed/7739042" } ] }, { "title": "SH3 in muscles: solution structure of the SH3 domain from nebulin.", "journal": "J. Mol. Biol.", "date": "1998", "authors": "Politou A S, Millevoi S, Gautel M, Kolmerer B, Pastore A", "evidence": [ { "database": "UniProtKB", "id": "P20929", "url": "https://www.uniprot.org/uniprotkb/P20929" } ], "reference": [ { "type": "PubMed", "id": "9514727", "url": "https://glygen.org/publication/PubMed/9514727" } ] } ], "pathway": [ { "id": "hsa:4703", "name": "", "url": "https://www.genome.jp/dbget-bin/www_bget?hsa:4703", "resource": "KEGG Pathway" }, { "id": "R-HSA-390522", "name": "", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-390522", "resource": "Reactome", "description": "Striated Muscle Contraction" } ], "orthologs": [ { "uniprot_canonical_ac": "A0A8I5Y690-1", "protein_name": "Nebulin", "gene_name": "Neb", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MADEEEYEEVIEYYTEETVYEEVPGETITEIYETTTTRTSDYDQSETSTPALAQPQPAKPVERKKVIRKKVDTSKFMTPYIEHSQKMQGLFSPNKYKENYEKAKGQPYAITSDTPELRRIKKVQDQLSEVKYRMDGDVAKTICHVDEKAKDIEHAKKVSQQVSKVLYKQNWEDTKDKYLLPPDAPELVQAIKNTAMFSKKLYTEDWEADKGLFYPYNDSPELRRVAQAQKALSDIAYKKGLTEQQTQFTSLPDPPDLEFAKKVTNQVSKQKYKEDYEKKVKGKWSETPCFEIATARMNADNLSTRKYQEDFENMKDQIYFMQTETPEYKMNKQAGVAASKVKYKEDYEKNKGKADYNVLPASENPLLRQLKTAGNALSDKLYKENYEKTKAKSINYCETPKYQLDSVLQNFSSDTKYKDSYLKNILGHYVGSFEDPYHTHCMKVTAQNSDKNYKAEYEEDRGKGFFPQTITQEYEAIKKLDQCKDHTYKVHPDKTKFTQVTDSPVLVQAQVNSKQLSDLNYKAKHESEKFKCHIPPDAPAFIQHRVNAYNLSDNVYKQDWEKSKAKKFDIKVDAIPLLAAKANSKNASDVMYKKDYEKSKGKMIGALSINDDPKMLHSLKTAKNQSDRLYRENYEKTKAKSMNYCETPKYQLDTLLKNFSEAKYKDSYVKNILGHYVGSFEDPYHTHCMKVSAQNSDKSYKAEYEEDKGKCYFPQTITQEYEAIKKLDQCKDHTYKVHPDKTKFTAVTDTPVLLQAQLNTKQLSDLNYKAKHEGEKFKCSVPADAPEFIQHRVNAYNLSDNVYKQDWEKSKAKKFDIKVDAIPLLAAKANSKNASDVMYKKDYEKSKGKMIGALSINDDPKMLHSLKTAKNQSDREYRKDYEKSKTIYTAPLDMIQVTQAKKSQAIASDVDYKHILHNYSYPPDSINVDLAKKAYALQSDVEYKADYNSWMKGCGWVPFGSLEMEKAKRASEILNEKKYRQHPDTLKFTSIEDAPITVQSKINQAQRSDIAYKAKGEEILHKYNLPADLPQFIQAKVNAYNISENMYKADLKDLSKKGYDLRIDAIPIKAAKAARQAASDIHYKKDYEKAKGKMVGFQSLQDDPKLVHYMNVAKIQSDREYKKDYEKTKTKYNTPHDMVDVVAAKKAQDVISNTNYKHSLHHYTYLPDAMDLELSKNMMHIQSDNAYKEDYNTWMKGIGWIPIGSLDQEKVKKAGDALSEKKYRQHPDTLKFTSIVDSPVMVQAKQNTQQVSDILYKAKGEDVKHKYTLNPDLPQFLQAKCNAYNISDVCYKRDWHDLIAKGNNVLADAIPITAAKSSRNIASDYKYKEAYEKAKGKHVGFRSLQDDPKLVHYMNVAKLQSDREYKKNYENTKTSYHTPGDMVSITAARMAQDVATNVNYKQPIHHYTYLPDSLSLEHTRNANQIQSDNVYKDEYNSFFKGIGWIPIGSLEVEKAKKAGDALNERKYRQHPDTIKFTSVPDSMGMVLAQQNTKQLSDLNYKVEGEKLKHKYTMDPELPQFIQAKVNAINMSDAHYKADWKKTLAKGYDLRPDAIPIVAAKSSRNIASDCKYKEAYEKAKGKQIGFLSLQDDPKLVHYMNVAKIQSDREYKKGYEASKTRYHTPLDMFSVTAAKKSQEVATNSNYRQPYHNYTLLPDALNVEHSRNAMQIQSDNLYKSDFTNWMKGIGWVPIDSLEVEKAKKAGEILSERKYRQHPEKLKFTYSMDTMEQALNKSNKLTMDKRLYTEKWNKDKTSIHVMPDTPDILLSRVNQITMSDKLYKAGWEEEKKKGYDLKPDAISIKAAKASRDIASDYKYKQAYEQAKGKHIGFRSLEDDPKLVHFMQVAKMQSDREYKKGYEKSKTSFHTPVDMVSVVAAKKSQEVATNANYRNIIHTYNMLPDAMGFELAKNMMQIQSDNQYKADYADFMKGIGWLPLGSLEAEKNKKAMEIISEKKYRQHPDTLKYSTLMDSMNMVLAQNNAKIMNNHLYKQAWEADKTKIHIMPDIPEIVLAKANAINMSDKLYKLSLEESRKKGYDLRTDAIPIKAAKASRDIASDYKYKHSYEKEKGKMVGFRSLEDDPKLVHSMQVAKMQSDREYKKNYEKTKTSYHTPADMLSVTAAKDAQANITNTNYKRLIHKYILLPDAMNIELTRNMNHIQSDNEYKQDYREWYRGLGWSPAGSLEVEKAKKATEYASDQKYRQHPSNFQFKKLTDSMDMVLAKQNAHTMNKHLYTVDWNKDKTKIHVMPDTPDILQAKQNQTLYSQKFYRLGWEEALKKGYDLPVDAISVQLAKTSRDIASDFKYKQGYRKQLGHHIGFLSVQDDPKLVLSMNVAKMQSEREYKKDFEKWKTKYTSPVDMLGVVLAKKCQALVSDVDYKNYLHQWTCLPDQNDVIQAKKVYELQSENMYKSDLEWLRGIGWSPLGSLEAEKNKRASEIISEKKYRQPPDRNKFTSIPDAMDIVLAKTNAKNRSDRLYREAWDKDKTQIHIMPDTPDIILAKANLINTSDKLYKMGYEELKKKGYDLPVDAIPIKAAKASREIASEYKYKEGFRKQLGHHIGARNIKDDPKMMWSMHVAKIQSDREYKKDFEKWKTKFSSPVDMLGVVLAKKCQTLVSDADYRNYLHQWTCLPDQNDVIHARQAYDLQSDNLYKADLQWLKGIGWITSGSLEDEKNKRATQILSDHVYRQHPDKFKFSSLMDSMPMVLAKNNAITMNHHLYTEAWNNDKTTVHIMPDTPEVMLAKQNKVNYSEKLYKLGLEEAKRKGYDMRLDAIPIKSAKASRDIASDFKYKEGYRKQLGHHIGARAIHDDPKMMWSMHVAKIQSDREYKKDFEKWKTKFSSPVDMLGVVLAKKCQTLVSDVDYKNYLHQWTCLPDQNDVIHARQAYDLQSDNMYKSDLQWLRGIGWVPIGSLDVEKCKRATEILSDKIYRQPPDKFKFTSVTDSLEQVLAKNNAITMNKRLYTEAWDKDKTQIHIMPDTPEIMLARMNKVNYSESLYKLANEEAKKKGYDLRSDAIPIVAAKASRDIASDYKYKDGYRKQLGHHIGARNIEDDPKMMWSMHVAKIQSDREYKKDFEKWKTKYSSPVDMLGVVLAKKCQTLVSDVDYKNYLHQWTCLPDQNDVIHARQAYDLQSDNVYKSDLQWLRGIGWVPIGSLDVVKCKRAAEILSDNVYRQPPNKFKFTSVTDSLEQVLAKSNALNMNKRLYTEAWDKDKIQIHVMPDTPEIVLARQNRINYSESLYKLANEEAKKKGYDLRVDAIPIVAAKASRDIASDYKYKDGYRKQLGHHIGARNIEDDPKMMWSMHVAKIQSDREYKKDFEKWKTKYSSPVDMLGVVLAKKCQTLVSDVDYRNYLHQWTCLPDQNDVIHARQAYDLQSDNVYKSDLQWLRGIGWVPIGSLDVVKCKRAAEILSDNVYRQPPNKFKFTSVTDSLEQVLAKNNALNMNKRLYTEAWDKDKTQIHIMPDTPEIMLARQNKINYSESLYRQAMEEAKKEGYDLRSDAIPIVAAKASRDIASDYKYKEAYRKQLGHHIGARAVHDDPKMMWSLHIAKVQSDREYKKEFEKYKTRYSSPVDMLGIVLAKKCQTLVSDVDYKHLLHEWTCLPDQNDVIQARKAYDLQSDNLYKADLEWMKGIGWVPIGSLEVVKAKRATEILSDNIYRQRPDALKFTSITDSLEQVLAKNNAINMNKRLYTEAWDNDKKTIHVMPDTPEIMLAKLNRINYSDKLYKLSLEEARRQGYDLRVDAIPIRSAKASREIASDYKYKEGYRKQLGHHIGARNIKDDPKMMWSIHVAKIQSDREYKKDFEKWKTKYSSPVDMLGVVLAKKCQILVSDIDYKHPLHEWTCLPDQNDVIQARKAYDLQSDAVYKADLEWLRGIGWVPIGSVEVEKVKRAGEILSDRKYRQPADQLKFTCITDTPEIVLAKNNAITMSKHLYTEAWDADKASIHVMPDTPEILLAKSNSANISQKLYTKGWDESKMKDYDLREDAISIKSAKASRDIASDYKYKEAYEKQKGHHIGAQCVEDDPRIVCAMHAGKIHSDREYKKEFQKWKTKFSSPVDMLGLVLARKCQTLVSDIDYRNYLHNWTCLPDQNDIIQAKKAYELQSDSVYKADLEWLRGIGWIPEGSVEMTRVKGAQDLVNERLYRTRPEALKFTSIVDTPEVVLAKANSLQMSERLYQEAWNKDKTNISIPLDTPAMLQAQINALQISNKLYQKDWDEAKQKGYDLRADAIEIKHAKASREIASEYKYKEGYRKQLGHHVGFRSLQDDPKLVWSIHAAKIQSDREYKKAYEKSKGIYNTPLDMMSIVQAKKCQVLVSDVDYRNYLHQWTCLPDQNDVIQAKKAYELQSDAIYKADLEWLRGIGWMPEGSPEVLRVKNAQEILCDSVYRTPVVKLKYTSIVDTPEVVLAKSNAENISIPKYREVWDKDKTSIHIMPDTPEINLARANALNVSHKLYREGWDEVKMSCDVRLDAIPIQAAKASREIASDYKYKLDHEKQKGHYVGTLTARDDNKIRWALIAGKIQNEREYRLQWAKWKTKFQSPVDMLSILHSKKCQTLVSDIDYRNYLHQWTCMPDQNDVIQAKKAYELQSDAVYKADLEWLRGIGWMPNDSVSVNHAKHAADIFSEKKYRTKIETLNFTPVDDRVDYVTAKQSSEIRDDIKYRKDWNAIKSKYTLTETPLLHTAQEAARILDQYLYKEGWEKQKATGYILPPDAVPFVHAHHSSDVQSELKYKAEHVKQRGHYVGVPTMRDDPKLVWFEHAGQIQNDRLYKESYHKSKAKINIPADMVSVVAAKEGQSLVSDIDYRQYLHQWTCHPDQNDVIQAKIAYDLQSDNVYKADLEWLRGIGWIPLDSVDHVRVTKNQEMVNQIKYKKDALDNYPNFTSVVDPPEIVLAKINSVNQSDVKYKETFNKAKGKYMFSPDTPYISHSKDMGKLYSTILYKGAWEGTKAYGYTLDERYIPIVGAKHADLVNSELKYKETYEKQKGHYLAGKEISEFPGVVHCLDFQQMRSALNYRKDYEDTKANVHIPNDMMNHVLAKRCQYILSDLEYRHYFHQWTSLPEEPNVIRARNAQEILSDNVYKDDLNWLKGIGCYVWDTPQILHAKKSYDLQSQLQYTAASKENLQNYNLVTDTPVYVTALQSGINASEVKYKENYHQIKDKYTTVLETADYDRTKNLKSLYSSNIYKEAWDKVKATSYNLPTSTLSLTHAKNQKHLASRIKYREEYEKFKALYTLPKSVDDDPNTARCLRVGKLNIDRLYRSVYEKNKMKINIVPDMVEMVTAKDSQKKVSEIDYRLHLHEWICHPDLQVNSHVRKVTDQISDIVYKDDLTWLKGIGCYVWDTPEILHAKHAYDLRNDIKYKAHVQKTRNDYKLVTDTPVYVQAVKSGKQLSDAVYHYDYIHSVRGKVAPTTKTVDLDRALHAYKLQSENLYKKGLRFLPTGYRLPVDTPHFNHTKDTRYMSSYFKYKEAYEHIKANGYTLGPKDVPFVHVRRVNNVTSERLYRELYHKLKDKIHTTPDTPEIRQVKKTQEAVSELIYKSDFFKMQGHMISLPYTPQVLHCRYVGDITSDIKYKEDLQILKGLGCFLYDTPDMVRSRHLRKLWSNYLYTDKARKMRDKYKVVLDTPEYRKVQELKTHLSELVYRASGKKQKSIFTSVPDTPDLLRAKRGQKLQSQYLYVELATKERPHHHAGNQTTALQHAKDVKDMVSEKKYKIQYEKMKDKYTPVADTPILIRAKRAYWNASDLRYKETFQKTKGKYHTVKDALDIVYHRKVTDDISKVKYKENYMSQLGIWSSIPDRPEHFHHRAVTDAVSDVKYKEDLTWLKGIGCYAYDTPDLALAEQNKTLYSKYKYKEVFERTKSNFKYVADCPINRHFKYATQLMNEKKYRADYEQRKDKYHLVVDEPRHLLAKTAGDQISQIKYRKKYEKSKDKFTSVVDTPEHLRTTKVNKQISDILYKLEYNKARPRGYTTIHDTPMLLHVRKVKDEVSDLKYKEVYQRNKSNCTIKPDAVHIKAAKDAYKVNTNLDYKKQYEANKAYWKWTPDRPDFIQAAKSSLQQSDFEYKLDREFLKGCKLSVTDDKDMVLALRNSLIESDLKYKEKHVKERGTCHAVPDTPQILLAKTVSNLVSENKYKDHVKKHLAQGSYTTLPETRDTVHVKAVTKHVSDTNYKKKFVKEKGKSNYSIMQEPPEVKHAMDVAKKQSDVAYKKDAKENLHYTTVADRPDIKKATQAAKQASEVEYRAKHRKEGSHGLSMLGRPDIEMAKKAAKLSSQVKYRENFDKEKGKTPKYNPKDSQLYKTMKDANNLASEVKYKADLKKLHKPVTDMKESLIMHHVLNTSQLASSYQYKKNYEKSKGHYHTIPDNLEQLHLKEATELQSIVKYKEKYEKERGKPMLDFETPTYITAKESQQMQSGKEYRKDYEESIKGRNLTGLEVTPALLHVRHATKIASEKEYRKDLEESIRGRGLTEMEDTPEMLRAKNATQILNEKEYKRDLELEVKGRGLNAMANETPDFMRARNATDIASQIKYKQSAEMEKANFTSVVDTPEIIHAQQVKNLSSQKKYKEDAEKSMSYYETVLDTPEMQRVRENQKNFSLLQYQCDLKNSKGKITVVQDTPEILRVKENQKNFSSVLYKEDVSPGTAIGKTPEMLRVKQTQDHISSVKYKEAIGQGTPIPDLPEVKRVKETQKHISSVMYKENLGTGIPTTVTPEIERVKRNQENFSSVLYKESLGKGTPTAVTPEMERVKRNQENFSSVLYKENMGKGTPLPVTPEMERVKHNQENISSVLYKENVGKATPTPVTPEMQRVKRNQENISSVLYKENLGKATPTPFTPEMERVKRNQENFSSVLYKENMRKATPTPVTPDMERAKRNQENISSVLYSDSFRKQIQGKAAYVLDTPEMRRVRETQRHISTVKYHEDFEKHKGCFTPVVTDPITERVKKNTQDFSDINYRGIQRKVVEIEQKRNDQDQDTITGLRVWRTNPGSVFDYDPAEDNIQSRSLHMVNVQAQRRSRDQSRSASALSISGGEEKSEHSEAADQRLSTYSDGGAFFSATSTAYKHVKTTELPQQRSSSVATQQTTLSSIPSHPSTAGKIFRAIYDYMAADADEVSFKDGDAIVNAQAIDEGWMYGTVQRTGRTGMLPANYVEAI", "length": 7152 }, "evidence": [ { "id": "RGD:1311134", "url": "https://alliancegenome.org/gene/RGD:1311134#orthology", "database": "AGR" }, { "id": "MGI:97292", "url": "https://alliancegenome.org/gene/MGI:97292#orthology", "database": "AGR" }, { "id": "HGNC:7720", "url": "https://alliancegenome.org/gene/HGNC:7720#orthology", "database": "AGR" }, { "id": "ZFIN:ZDB-GENE-041111-216", "url": "https://alliancegenome.org/gene/ZFIN:ZDB-GENE-041111-216#orthology", "database": "AGR" } ], "glygen_name": "Rat", "common_name": "Rat" }, { "uniprot_canonical_ac": "A0AC58GGB3-1", "protein_name": "Nebulin isoform X1", "gene_name": "neb", "tax_id": 7955, "organism": "Danio rerio", "sequence": { "sequence": "MASEEEYDDDVVEEYYYEEGPTITTTTTSVSHGVEPGPGGLPRCSVRKKVKVDTSKFMTPYLAHSQKMLDQYSHNKYREEYEKSKGQPYLISADTPEMIRIKKAQEQLSEVKYRMEGLKAKTTSLYDGEAREVAHVKRVSDLISKVLYRQKWDETKDKYLLPPDAPELVLAVKNAANYSKKLYTEVWDEEKTMYYPYSDSPELRRVAKAQKDLSDIVYKKGHDERKAKYTSLADPPEVELAKKNFANRSNLKYHEDYNKNVKGKWCETPYFDVAVARMVMDNISDKKYTAEFEDIKDQIYFMQTDTPTYASNKKAREAASSVQYKKNYEKTKAVCDYNVLPATENPLLRQLRYAGTILSDKVYKANYEKSRGFSINYCDTPKFRMDSVLKKFSDTRYKQKYENEVKGHYIGSYEDIFTVHCHRMEEMKNEQNYKADYEDIKARCYFPQTVTPEYEANKKLQKCQDKVYRQHPDKVKFTQVTDSPVQVQAAINAKQLSDLNYKEKYEKEKFKCYLPPDYPFFIQSRVNAYNLSDTCYKYDWEKTKAKKFEVKGDAISIRAARAHTNIASDVKYKKEYEKNRGQMVGALSIKDDPKIMHSVHVAKIQSEREYKKDYEKMKTKYHAPLDMMLVTLAKKSQAIASMTGYKKIINRYLLPYDSVALDQAKKSNMIQSDNEYKLDYNNYVKGSPWVPYGSLEVEKCKKAGQILSEKKYRQHPDTVPFTAIDDHPLQLQAKHNQIIRSDLHYKKGLDAVLQKYSMPPDAPHLLQARCNAYNISDKYYKLEWLKTIAKGYDLKPDAIAVKAAKAARHAVSDVQYKKQYMKDRGHHVGFRSIQDDPLLVHYMQVAKIQSDKLYKKDYHKAKLKYHTPVDMLSVIHAKNASKVQTFTGYKQQIHHYSLLPDAMNLALARSMNVTSSDVQYKQDYDNYVKGTGWIPIGSLDVERAKVAAAALNEKKYRQHPDTIKFTSVFDTPVMEQAKLNAQQLSDRLYKASGEKFMHTYHLPADAPELLQAKYNAVNVSKTYYTYAHKQNLLKGHQMKHDAIPILAAKSSRDIASDYKYKLAYQKARGHHVGFRSLQDDPLLVHYMNVAKMQSERNYTKDYHKAKLKYHTPVDMLSVLQAKNASKVQTNTGYKQHHHNYVLLPDAMHIQLSRNMMEIQSDNLYKSDFNNIFKGAGWVPIGSIDVEKAKTAAKALDEKSYRVHPSTLKFTSLTDQMNMVLAMSNTKLQNKAAYKASGEKFMHTYNLPPDAPQFLQAKYNAQTMSESHYKAQWIADIAKGYDMKADAIPILAAKQGRHIASNYQYKKAYEKTRGHHVGFRSIQDDPLLVHYMQVAKMQSERNYKKDYHKSKLKYHTPVDMLSVVQAKIASKVQTNAGYKQQFHHYNLLPDAMNLTLARSMNITSSDYEYKSEYNSTMKGMGWVPIGSLAVETAKIGGKIQSEHNYRTHPSNFKFHKLMDSMDLALATANNKIMDKKSYHAAWEKDKLKIHVMPDNPEIILAKANALNMSQKLYKAGLEEMNKKGYDLKPDAISILAAKAGRNIASNYKYKLAYEKAKGHHVGFRSIQDDPLLVHYMQVAKMQSERNYKKDYHKSKLKYHTPVDMLSVVQAKMASKVQTNAGYKQQFHHYNLLPDAMNLVLARSMNLTSSDVEYKSEYNSTMKGMGWVPIGSLAVETAKIGGKIQSEHNYRTHPSNFKFQKLMDSMDLALATANNKIMDKQAYTDAWNKDKIKVHIMPDNPEILLAKANAYNISEKAYKAGMEALKKKGYDLKADAVSIIAARASTNIASDYKYKKEYVKSRGHHIGFRSIQDDPLLVHYMHVAKIQSDRNYTKDYHKSKLKYHSPVDMLSVVHAKQATAAQTFAGYRNIINRSKVLPDAMNLQLARNMQAIASDNLYKSEYNNYIKGIGWIPIGSLDVEKAKIASRIGSEKQYRTHPSNFKFTKDMGSMDLVLAAANNDINNKQKYISAWEKDKTTIHIMPDAMDVALARQNKVIYSEKLYKLANEQAKKKGYDLRADAISIQAAKASCAIASNYKYKAGYRKQVGHHIGARSVQDDPLLMLALNSAKIASDALYKKDFNKSKTKFHLPVDMLSFELAKKCQVQVNDAHYRTYLHNWTCLPDSNDVVQARQVYDIQSNAVYKADLKWLQGLGWVPIGSVDVEKVKKAGEILSEAKYRQHPSKFKFKCTTEDMPMVLAKANNDIMNKSKYVEAWNSDKTKVHIMPDAMDVILAKQNKVNYSEKQYKLAYELAKKKGYDMRNDAISILAAKASRDIASDYKYKTGYRKQVGHHIGARSIQDDPLLMLALNSAKIASDALYKKDFNKSKTKFHLPVDLLSLELAKKCQIQVNDANYRTYLHNWTCLPDSNDVVQARQIYDLQSDAVYKADLKWLQGLGWVPIGSIDVEKVKKAGEILSEAKYRQHPSNFKFTLTTQDMPMVLAKANNDVMNKQQYASAWNKDKTKIHVMPDAMDIVLAKQNRVNYSLKSYKLANEEAKKKGYDMRNDAISIKAAKASRDIASDYKYKTGYRKQVGHHIGALSIQDDPLLMLALNSAKIASDALYKKDFNKSKTKFKLPVDMLAFELAKKCQVQVNDAHYRTYLHNWTCLPDSNDVVQARKVYDLQSDAVYKADLKWLQGLGWVPIGSIDVEKVKKAGEAQSERKYRQHPSNFKFTCTTADMPMVLAKANASIMNKKSYVEAWEKDKTKIHVMPDTMEILLAKQNKTNYSVKQYKLANEESKKKGYDMRGDAISIKAAKASRDIVSDYKYKTGYRKQVGHHIGARSIQDDPLLMLALNSAKIASDALYKKDFNKSKTKFNLPADLLSLELAKKCQIQVNDANYRTYLHNWTCLPDSNDVVHARHVYELQSDAVYKADLKWLQGIGWVPIGSVDVEKAKKAGEALNERKYRQHPSNFKFTLTTEDMPLVLAKNNATTVNKKLYTEAWDKDKTKIHVMPDCMEVLLAKQNNANYSEKRYKLANEESKKKGYDLRGDAIAIKAAKASRDIISDYKYKTGYRKQVGHHIGALSVKDDPLIMLALNSAKIASDALYKKDFNKSKTKYHLPVDLLSLELAKKCQIQVNDANYRTYLHNWTCLPDSNDVVQARKVYDLRSDAVYKADMEFMTGVGWVPIGSLDVLKAKKAAEILSDRLYKQKPSTFSFKQDMQSMPMVLAKANAQIMNQRQYHSAWEADKIKIHIPPDTPEIVLSSANAITNSRKLYRQGVEEIFRKGYDIKTDAVAIRAAKASRDIISDYKYKTGYRKQVGHHIGALSVKDDPLIVLAMNSAKIASDALYKKDFNKSKTKFHLPVDLLSLELAKKCQIQVNDANYRTYLHNWTCLPDSNDVVQARKVYDLQSDAVYKADMEWIRGTGWVPIGSVDVEKAKKAGEILNERKYRQHPSKFKFTCKTDGIPYALAQANAKTMDKNAYVEAWNKEKINIHVMPDTPEIILGKQNKLNTSIKYYRQDYEESLKKGYFLPKDAVSVKSAKASRDIISDYKYKAGYRKQQGHHIGALSIKDDPLIMLALNSGKIASDLLYKKDFNKSKTKYNLPADLLSLELAKKCQIQVNDANYRTYLHNWTCLPDSNDVVQARKVYDLRSDAVYKADLEWIRGCGWMPHGSIDVVKAKNAQNILNEKLYRQHPSTVKFTSAVDLPVIVLAKQNADILSDRKYREAWDKDKTSVHIMPNTPAIELSRANAIAVSNKMYTKNWDSTKAKAYHIKEDAISVIKAKASRDIASDYKYKTGYRKQVGHHIGALSVRDDPLIMLALNSAKIASDALYKKDFNKSKTKFNLPVDLLSLELAKKCQIQVNDANYRTYLHNWTCLPDSNDVVQARKVYDLRSDAVYKADLEWLRGCGWIPHESVEVVKVRNAQKVLAERGYRVKLDEQKYTTPIERIDFVRSKNAADVLNEAKYREAWHNDKTKYTLTDSPVMATAREVAKMYHPHFYTKNWNKSKATSYFMPGDAVPIKQCIHNSKVQSDYKYKTGYRKQVGHHIGALSVQDDPLLMLALNSAKIASDALYKKDFNKSKTKFNLPVDMVAFEHAKKCQIQVNDDKYRTRLHQWTCLPDQNDVIQARKVYDLCSDNIYKADMEWLRGCGWVAADSVEHVKVRKAQEIINDRHYKKDAKDNFSKYTHIVDRPEIVLAKVNAFNLSDLKYKESFNLEKGHYIGSEDTPQLAHSREFAKMISEKLYKVSWDESKATGYQLNHEYMPVQIAKRNRDIVSDHKYHDAHEKAKGHYLASTLVDFPLLVHSNHVEKLKNLREYRKAYNETKTKLHIPADMISHVVAKKCQEILSDVLYRTHLHQWTCHPEQNDAIRARKANEILSDIFYKEDLNWMKGVGCYAWDTPEIVRAKKSYELQSDIKYKAEGKKEWNNYSIVTDTPVYVTAILGHTWASELNYREAYHKEKHMYTTILDTYDYARCYNLKEVYSTKAYSAAWNKIKAKSYSIPHDSHALAHAKQQKVILSNVKYKEDYEKFKTLYSLPKCLEDDPQTARCVKSGKLVLDRLYKENYEKTKAKINVPPDMLDIVSARNTQKTVSGVDYRKYLHQWICLPDMQVYVHARKVNEQLSDIFYKDDLNWLKGAGCYAWDTPEILRVKQAMKLQSDNLYRAKGIEHFKQYTVVMDTPVYETCKQSAKNLSELNYRHDYATNVLGKNTAPAVTIETERARQANYIQSDNFYKEANKSFMPTGYSLPYDTPLNKQAKANSIVTSNMKYREAYDLMKARSYKLDPEGVNFVTIRKANKVTNERLYREKYEKEKDKIHSEYDTPEIRQVKATQHAISDLCYKEKYYNTRGTLLPMPITPELMHCFHVNEINSDLKYKEDLHWLRGIGCFMVDSPEMVRIREITKFKKSYETDAKKNFSNYSVVLDTPEYKRVTELKTHMSNVVYRAEGNKEKQKCTTTVDGLEIKRAKWAQSLTNKYQYVDLASKERAFFTPESHTPILDHARSMKVVYSEKKYKEQYEKMKHKYTPIHDTPILIRSKKAYLNASDLRYKETFELAKGHSHADKDALDILCAKRVRDDISEVKYREKYISTLGTWKSIPDRPEFFHSRIVRDCISDIKYKEDLDWIKGIGCYVWDTPELVRAEQNKNLYSERLYKASFEKNRANFKYTCDTPFFEAAKNASLLINDRSYRASYEKSKDKYTIVVDDPRNVLAKENSKMSQWKYKEQYERAKSKYTAVLDTPEYQVAKRSKQISDIIYKMEYNKTKARGYTLGHDTPMSQHMKKVKEITSNLKYKEVYERNKAQINMAPDAHEIRAAKEAYKNISNLDYKKKYEATKNKWIWTVDRPDFVHAAKNSFQQSDVEYKYDKEMLKGCVMSVTDDKYTLLAKKNAELASDVKYKEKYEKAKGQYMVVHDTPQILHAKSVANLVSESKYKEASKKDLQSGGFTTLAETRETAHSKEVAKITSAKLYKEKFEKEKGKSNYNQMIAPPEVQHAMEVAKNQSNIAYKQEAKAKLTYTSVADRPDIRKATQAAKLVSEIGYRDKARQEASRGGTLLGRPDIALATEVSKLTSQVEEKPSLHGAASFDTPQMRHIKKMSALTSDVKYKEKFDKEMKGKRPQYDLKNSKIYQTLKDANTLASEVKYKGDLKKIHKPVTDMAESLSMQHNLSTSKLASDYQYKKKFEASRGHYHMIPDTPEQLHHKEASELQSHVKYKEKYEKERGKAMLDFETPTYVTAKEAQHLQSQKEYKKDFEMTMKGKNLSGLEVTPAMMHVRHATKIVSEKEYRRDLEEGVKGKGLTVLEETPELLRAKNATQILCEREYKKALEQEIKGKGMLALATDTPDFLRARNATEILSQAKYKQNAEHDRATYTTVIDTPDILHAQQIRNIVSQKKYKEEAEKTMSHYVPVLDTPEMQRVRENQKNFSTLQYQIDLKKSKGKVSAVQNTPEMLRVKENTKNFSSIQYKEELGQGTAISETPEMERVKRNQEAISTIKYKDSLSQGISIPDLPEVKRVRETQKNISLIHYKEDLGGGTAISETPEMERVKRNQQNISTIKYRDSLGQGTAMPDLPEMKRVKENQKHISSVLYKDLSAKGTPVVFTPEMERVKRNQLHISSVLYSDSFRKQVQGKAAFVLDTPEMRRVKETQRIISGVKYHQDFEKSKGSFTPTISDPVTERVKRNTQDFSDINYRGIQRRVVEMERKRAEEHDQETITDLRVWRTNPGSVFDYDPAEDNIQSRSLHMMSVQAQRRSKEHSRSTSAMSGVGDEKSEVSENVDRYSNGFAISALHGYTQTKTIEVQQRSSSVATQQTTVSSVPSHPSTTGKTVRAMYDYAAADSDEVSFKDGDVIVNVQSIDEGWMYGTVQRTGKTGMLPANYVEAI", "length": 6327 }, "evidence": [ { "id": "RGD:1311134", "url": "https://alliancegenome.org/gene/RGD:1311134#orthology", "database": "AGR" }, { "id": "MGI:97292", "url": "https://alliancegenome.org/gene/MGI:97292#orthology", "database": "AGR" }, { "id": "HGNC:7720", "url": "https://alliancegenome.org/gene/HGNC:7720#orthology", "database": "AGR" }, { "id": "ZFIN:ZDB-GENE-041111-216", "url": "https://alliancegenome.org/gene/ZFIN:ZDB-GENE-041111-216#orthology", "database": "AGR" } ], "glygen_name": "Zebrafish", "common_name": "Zebrafish" }, { "uniprot_canonical_ac": "E9Q1W3-1", "protein_name": "Nebulin", "gene_name": "Neb", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MADEEEYEEVIEYYTEETVYEEVPGETITEVYETTTTRTSDYGQSETATPALAQPQPAKPVERKKVIRKKVDSSKFMTPYIQHSQKMQDLFSSNKYKENYEKAKGQPYAITSDTPELRRIKKVQDQLSEVKYRMDGDVAKTICHVDEKAKDIEHAKKVSQQVSKVLYKQNWEDTKDKYLLPPDAPELVQAVKNTAMFSKKLYTEDWEADKALFYPYNDSPELRRVAQAQKALSDIAYKKGLTEQQTQFTSLPDPPEVEFAKKVTNQVSKQKYKEDYEKKVKGKWSETPCFEIATARMNADNLSSRKYQEDFENMKDQIYFMQTETPEYKMNKQAGVAASKVKYKQDYEKNKGKADYNVLPASENPLLRQLKTAGNVLSDKLYKENYEKTKARSINYCETPKFQLDTVLQNFSSDTKYKDSYLKNILGHYVGSFEDPYHTHCMKVTAQNSDKNYKAEYEEDRGKGFFPQTITQEYEAIKKLDQCKDHAYKVHPDKTKFTQVTDSPVLVQAQVNSKQLSDLNYKAKHESEKFKCHIPPDAPAFIQHRVNAYNLSDNVYKQDWEKSKAKKFDIKVDAIPLLAAKANSKNASDVMYKKDYEKSKGKMIGALSINDDPKMLHSLKTAKNQSDRLYRENYEKTKAKSMNYCETPKYQLDTLLKNFSEAKYKDSYVKNMLGHYVGSFEDPYHTHCMKVSAQNSDKSYKAEYEEDKGKCYFPQTITQEYESIKKLDQCKDHTYKVHPDKTRFTAVTDTPVLLQAQLNTKQLSDLNYKAKHEGEKFKCSVPADAPEFIQHRVNAYNLSDNVYKHDWEKSKAKKFDIKVDAIPLLAAKANSKNASDVMYKKDYEKSKGKMIGALSINDDPKMLHSLKTAKNQSDREYRKDYEKSKTIYTAPLDMIQVTQAKKSQAIASDVDYKHVLHNYSYPPDSINVDLAKKAYALQSDVEYKADYNSWMKGCGWVPFGSLEMEKAKRASEILNEKKYRQHPDTLKFTSIEDAPITVQSKINQAQRSDIAYKAKGEEILHKYNLPADLPQFIQAKVNAYNISENMYKADLKDLSKKGYDLRIDAIPIKAAKAARQAASDIHYKKDYEKAKGKMVGFQSLQDDPKLVHYMNVAKIQSDREYKKDYEKTKTKYNTPHDMFDVVAAKKAQDVISNTNYKHSLHHYTYLPDAMDLELSKNMMHIQSDNAYKEDYNTWMKGIGWIPIGSLDQEKVKKAGDALSEKKYRQHPDTLKFTSIVDSPVMVQAKQNTQQASDILYKAKGEDVKHKYTLNPDLPQFLQAKCNAYNISDVCYKRDWHDLIAKGNNVLADAIPITAAKSSRNIASDYKYKEAYEKAKGKHVGFRSLQDDPKLVHYMNVAKLQSDREYKKNYENTKTSYHTPGDMVSITAARMAQDVATNVNYKQPLHHYTYLPDALSLEHTRNANQIQSDNVYKDEYNSFFKGIGWIPIGSLEVEKAKKAGEALNERKYRQHPDTIKFTSVPDSMGMVLAQQNTKQLSDLNYKVEGEKMKHKYTMDPELPQFIQAKVNAINMSDAHYKADWKKTLAKGYDLRPDAIPIVAAKSSRNIASDCKYKEAYEKARGKQIGFLSLQDDPKLVHYMNVAKIQSDREYKKGYEASKTRYHTPLDMFSVTAAKKSQEVATNSNYRQPYHNYTLLPDALNVEHSRNAMQIQSDNLYKSDFTHWMKGIGWVPIDSLEVEKAKKAGEILSERKYRQHPEKLKFTYSMDTMEQALNKSNKLTMDKRLYTEKWNKDKTSIHVMPDTPDILLSRVNQITMSDKLYKAGWEEEKTKGYDLKPDAIAIKAAKASRDIASDYKYKQAYEQSKGKHIGFRSLEDDPKLVHFMQVAKIQSDREYKKGYEKSKTSFHTPVDMFSVVAAKKSQEVATNANYRNIIHTYNMLPDAMSFELAKNMMQIQSDNQYKADYADFMKGIGWLPLGSLEAEKNKKAMEIISEKKYRQHPDTLKYSTLMDSMNMVLAQNNAKIMNKNLYKQAWEADKTKIHIMPDIPEIVLAKANAINMSDKLYKLSLEESRKKGYDLRTDAIPIKAAKASRDIASDYKYKHSYEKEKGKMVGFRSLEDDPKLVHSMQVAKMQSDREYKKNYEKTKTSYHTPADMLSVTAAKDAQANITNTNYKRLIHKYILLPDAMNIELTRNMNHIQSDNEYKQDYREWYRGLGWSPAGSLEVEKAKKATEYASDQKYRQHPSTFQFKKLTDSMDMVLAKQNAHTMNKHLYTIDWNKDKTKIHVMPDTPDILQAKQNQTLYSQKSYRLGWEEALKKGYDLPVDAISVQLAKTSRDIASDFKYKQGYRKQLGHHIGFLSVQDDPKLVLSMNVAKMQSDREYKKDFEKWKTKYTSPVDMLGVVLAKKCQALVSDADYRNYLHQWTCLPDQNDVIQAKKVYELQSENMYKSDLEWLRGIGWSPLGSLEAEKNKRASEIISEKKYRQPPDRNKFTSIPDAMDIVLAKTNAKNRSDRLYREAWDKDKTQIHIMPDTPDIILAKANLINTSDKLYKMGYEELKKKGYDLPVDAIPIKAAKASREIASEYKYKEGFRKQLGHHIGARNIKDDPKMMWSMHVAKIQSDREYKKDFEKWKTKYSSPVDMLGVVLAKKCQTLVSDADYRNYLHQWTCLPDQNDVIHARQAYDLQSDNVYKADLQWLKGIGWIPSGSLEDEKNKRATQILSDHVYRQHPNKFKFSSLMDSMPMVLAKNNAITMNHHLYTEAWNKDKTTVHIMPDTPEVILAKQNKVNYSEKLYKLGLEEAKRKGYDMRLDAIPIKTAKASRDIASDFKYKEGYRKQLGHHIGARGIHDDPKMMWSMHVAKIQSDREYKKDFEKWKTKYSSPVDMLGVVLAKKCQTLVSDADYRNYLHQWTCLPDQNDVIHARQAYDLQSDNMYKSDLQWMRGIGWVPIGSLDVEKCKRATEILSDKIYRQPPDKFKFTSVTDSLEQVLAKNNAITMNKRLYTEAWDKDKTQIHIMPDTPEIMLARMNKVNYSESLYKLANEEAKKKGYDLRSDAIPIVAAKASRDIASDYKYKDGYRKQLGHHIGARNIKDDPKMMWSMHVAKIQSDREYKKDFEKWKTKYSSPVDMLGVVLAKKCQILVSDIDYKHPLHEWTCLPDQNDVIHARQAYDLQSDNVYKSDLQWMRGIGWVPIGSLDVVKCKRAAEILSDNIYRQPPNKFKFTSVTDSLEQVLAKSNALNMNKRLYTEAWDKDKIQIHVMPDTPEIMLARQNRINYSESLYKLANEEAKKKGYDLRVDAIPIVAAKASRDIASDYKYKVGYRKQLGHHIGARNIEDDPKMMWSMHVAKIQSDREYKKDFEKWKTKYSSPVDMLGVVLAKKCQTLVSDVDYRNYLHQWTCLPDQNDVIHARQAYDLQSDNVYKSDLQWMRGIGWVPIGSLDVVKCKRAAEILSDNIYRQPPNKFKFTSVTDSLEQVLAKSNALNMNKRLYTEAWDKDKTQIHIMPDTPEIMLARQNKINYSESLYRQAMEEAKKEGYDLRSDAIPIVAAKASRDIASDYKYKEAYRKQLGHHIGARAIHDDPKMMWSLHIAKVQSDREYKKEFEKYKTRYSSPVDMLGIVLAKKCQTLVSDVDYKHPLHEWTCLPDQNDVIQARKAYDLQSDNLYKADLEWMKGIGWVPIGSLEVVKAKRATEILSDNIYRQRPDTLKFTSITDSLEQVLAKNNAITMNKRLYTEAWDNDKKTIHVMPDTPEIMLAKLNRINYSDKLYKVSLEEARRQGYDLRVDAIPIRSAKASREIASDYKYKEGYRKQLGHHIGARNIKDDPKMMWSMHVAKIQSDREYKKDFEKWKTKYSSPVDMLGVVLAKKCQILVSDIDYKHPLHEWTCLPDQNDVIQARKAYDLQSDAVYKADLEWLRGIGWVPIGSVEVEKVKRAGEILSDRKYRQPADQLKFTCITDTPEIVLAKSNAITMSKHLYTEAWDADKASIHVMPDTPEILLAKSNSANISHKLYTKGWDESKMKDYDLREDAISIKSAKASRDIASDYKYKEAYEKQKGHHIGAQSVEDDPRILCAMHAGKIYSDREYKKEFQKWKTKFSSPVDMLGVVLAKKCQTLVSDVDYRNYLHNWTCLPDQNDIIQAKKAYELQSDSVYKADLEWLRGIGWMPEGSIEMTRVKGAQDLVNERLYRTRPEALKFTSIVDTPEVVLAKANSLQMSERLYQEAWNKDKTNISLPLDTPAMLQAQINALQISNKLYQKDWDEAKQKGYDLRADAIEIKHAKASREIASEYKYKEGYRKQLGHHVGFRSLQDDPKLVWSIHAAKIQSDREYKKAYEKSKGIYNTPLDMMSIVQAKKCQVLVSDVDYRNYLHQWTCLPDQNDVIQAKKAYELQSDAIYKADLEWLRGIGWMPEGSPEVLRVKNAQEILCDSVYRTPVVKLKYTSIVDTPEVVLAKSNAENISIPKYREVWDKDKTSIHIMPDTPEINLARANALNVSNKLYREGWDEVKMSCDVRLDAIPIQAAKASREIASDYKYKLDHEKQKGHYVGTLTARDDNKIRWALIAGKIQNEREYRLQWAKWKTKFQSPVDMLSILHSKKCQTLVSDIDYRNYLHEWTCMPDQNDVIQAKKAYELQSDAVYKADLEWLRGIGWMPNDSVSVNHAKHAADIFSEKKYRTKIETLNFTPVDDRVDYVTAKQSSEIRDDIKYRKDWNAIKSKYTLTETPLLHTAQEAARILDQYLYKEGWEKQKATGYILPPDAVPFVHAHHSSDVQSELKYKAEHVKQRGHYVGVPTMRDDPKLVWFEHAGQIQNDRLYKESYHKSKAKINIPADMVSVVAAKEGQNLVSDIDYRQYLHQWTCHPDQNDVIQAKIAYDLQSDNVYKADLEWLRGIGWIPLDSVDHVRVTKNQEMVNQIKYKKDALANYPNFTSVEDPPEIVLAKINSVNQSDVKYKETFNKAKGKYIFSPDTPYISHSKDMGKLYSTILYKGAWEGTKAYGYTLDERYIPIVGAKHADLVNSELKYKETYEKQKGHYLAGKEISEFPGV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"length": 7152 }, "evidence": [ { "id": "RGD:1311134", "url": "https://alliancegenome.org/gene/RGD:1311134#orthology", "database": "AGR" }, { "id": "MGI:97292", "url": "https://alliancegenome.org/gene/MGI:97292#orthology", "database": "AGR" }, { "id": "HGNC:7720", "url": "https://alliancegenome.org/gene/HGNC:7720#orthology", "database": "AGR" }, { "id": "ZFIN:ZDB-GENE-041111-216", "url": "https://alliancegenome.org/gene/ZFIN:ZDB-GENE-041111-216#orthology", "database": "AGR" } ], "glygen_name": "Mouse", "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Biological Process", "total": 4, "go_terms": [ { "name": "somatic muscle development", "id": "GO:0007525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007525", "evidence": [ { "database": "UniProtKB", "id": "P20929", "url": "https://www.uniprot.org/uniprotkb/P20929" } ], "pmid": "" }, { "name": "regulation of actin filament length", "id": "GO:0030832", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030832", "evidence": [ { "database": "UniProtKB", "id": "P20929", "url": "https://www.uniprot.org/uniprotkb/P20929" } ], "pmid": "" }, { "name": "muscle organ development", "id": "GO:0007517", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007517", "evidence": [ { "database": "UniProtKB", "id": "P20929", "url": "https://www.uniprot.org/uniprotkb/P20929" } ], "pmid": "" }, { "name": "cardiac muscle thin filament assembly", "id": "GO:0071691", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071691", "evidence": [ { "database": "UniProtKB", "id": "P20929", "url": "https://www.uniprot.org/uniprotkb/P20929" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 4, "go_terms": [ { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P20929", "url": "https://www.uniprot.org/uniprotkb/P20929" } ], "pmid": "" }, { "name": "actin cytoskeleton", "id": "GO:0015629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015629", "evidence": [ { "database": "UniProtKB", "id": "P20929", "url": "https://www.uniprot.org/uniprotkb/P20929" } ], "pmid": "" }, { "name": "extracellular exosome", "id": "GO:0070062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070062", "evidence": [ { "database": "UniProtKB", "id": "P20929", "url": "https://www.uniprot.org/uniprotkb/P20929" } ], "pmid": "" }, { "name": "Z disc", "id": "GO:0030018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030018", "evidence": [ { "database": "UniProtKB", "id": "P20929", "url": "https://www.uniprot.org/uniprotkb/P20929" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 2, "go_terms": [ { "name": "actin filament binding", "id": "GO:0051015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051015", "evidence": [ { "database": "UniProtKB", "id": "P20929", "url": "https://www.uniprot.org/uniprotkb/P20929" } ], "pmid": "" }, { "name": "structural constituent of muscle", "id": "GO:0008307", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008307", "evidence": [ { "database": "UniProtKB", "id": "P20929", "url": "https://www.uniprot.org/uniprotkb/P20929" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 1046, "end_pos": 1048, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1290, "end_pos": 1292, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1534, "end_pos": 1536, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1737, "end_pos": 1739, "annotation": "n_glycosylation_sequon" }, { "start_pos": 2022, "end_pos": 2024, "annotation": "n_glycosylation_sequon" }, { "start_pos": 2131, "end_pos": 2133, "annotation": "n_glycosylation_sequon" }, { "start_pos": 222, "end_pos": 224, "annotation": "n_glycosylation_sequon" }, { "start_pos": 2263, "end_pos": 2265, "annotation": "n_glycosylation_sequon" }, { "start_pos": 2474, "end_pos": 2476, "annotation": "n_glycosylation_sequon" }, { "start_pos": 2509, "end_pos": 2511, 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