{ "uniprot_canonical_ac": "P06753-1", "uniprot_ac": "P06753", "uniprot_id": "TPM3_HUMAN", "mass": { "chemical_mass": 32950.0, "monoisotopic_mass": 32950.0 }, "refseq": { "ac": "NP_001036816", "name": "tropomyosin alpha-3 chain isoform Tpm3.2cy", "summary": "This gene encodes a member of the tropomyosin family of actin-binding proteins. Tropomyosins are dimers of coiled-coil proteins that provide stability to actin filaments and regulate access of other actin-binding proteins. Mutations in this gene result in autosomal dominant nemaline myopathy and other muscle disorders. This locus is involved in translocations with other loci, including anaplastic lymphoma receptor tyrosine kinase (ALK) and neurotrophic tyrosine kinase receptor type 1 (NTRK1), which result in the formation of fusion proteins that act as oncogenes. There are numerous pseudogenes for this gene on different chromosomes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001036816" }, "gene_names": [ { "name": "TPM3", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P06753", "id": "P06753" }, { "name": "CAPM1; CFTD; CMYP4A; CMYP4B; HEL-189; HEL-S-82p; hscp30; NEM1; OK/SW-cl.5; TM-5; TM3; TM30; TM30nm; TM5; TPM3nu; TPMsk3; TRK", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001036816", "id": "NP_001036816" }, { "name": "TPM3nu", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P06753", "id": "P06753" }, { "name": "TPM3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001036816", "id": "NP_001036816" } ], "protein_names": [ { "name": "Tropomyosin alpha-3 chain", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P06753" }, { "name": "Gamma-tropomyosin", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P06753" }, { "name": "Tropomyosin-3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P06753" }, { "name": "Tropomyosin-5", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P06753" }, { "name": "hTM5", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P06753" }, { "name": "heat-stable cytoskeletal protein 30 kDa; cytoskeletal tropomyosin TM30; tropomyosin alpha-3 chain; tropomyosin gamma; tropomyosin-5; alpha-tropomyosin, slow skeletal; epididymis secretory sperm binding protein Li 82p; epididymis luminal protein 189; tropomyosin 3 nu", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001036816", "id": "NP_001036816" }, { "name": "tropomyosin alpha-3 chain isoform Tpm3.2cy", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001036816", "id": "NP_001036816" } ], "function": [ { "annotation": "Binds to actin filaments in muscle and non-muscle cells. Plays a central role, in association with the troponin complex, in the calcium dependent regulation of vertebrate striated muscle contraction. Smooth muscle contraction is regulated by interaction with caldesmon. In non-muscle cells is implicated in stabilizing cytoskeleton actin filaments.", "evidence": [ { "database": "UniProtKB", "id": "P06753", "url": "https://www.uniprot.org/uniprot/P06753#function" }, { "database": "UniProtKB", "id": "P09493", "url": "https://www.uniprot.org/uniprot/P09493#function" }, { "database": "UniProtKB", "id": "A0A2R2Y2Q3", "url": "https://www.uniprot.org/uniprot/A0A2R2Y2Q3#function" }, { "database": "UniProtKB", "id": "ARBA00037240", "url": "https://www.uniprot.org/uniprot/ARBA00037240#function" }, { "database": "UniProtKB", "id": "A0A494C034", "url": "https://www.uniprot.org/uniprot/A0A494C034#function" }, { "database": "UniProtKB", "id": "A0A494C0P6", "url": "https://www.uniprot.org/uniprot/A0A494C0P6#function" }, { "database": "UniProtKB", "id": "D6RGJ6", "url": "https://www.uniprot.org/uniprot/D6RGJ6#function" }, { "database": "UniProtKB", "id": "J3KN67", "url": "https://www.uniprot.org/uniprot/J3KN67#function" } ] }, { "annotation": "Cloned and sequenced a novel nonmuscle tropomyosin (hTM) isoform, TC22, which is strongly associated with colonic neoplasia and carcinoma", "evidence": [ { "database": "RefSeq", "id": "NP_001036816", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001036816" }, { "database": "PubMed", "id": "12105844", "url": "https://glygen.org/publication/PubMed/12105844" } ] }, { "annotation": "This gene encodes a member of the tropomyosin family of actin-binding proteins. Tropomyosins are dimers of coiled-coil proteins that provide stability to actin filaments and regulate access of other actin-binding proteins. Mutations in this gene result in autosomal dominant nemaline myopathy and other muscle disorders. This locus is involved in translocations with other loci, including anaplastic lymphoma receptor tyrosine kinase (ALK) and neurotrophic tyrosine kinase receptor type 1 (NTRK1), which result in the formation of fusion proteins that act as oncogenes. There are numerous pseudogenes for this gene on different chromosomes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013].", "evidence": [ { "database": "RefSeq", "id": "NP_001036816", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001036816" } ] } ], "disease": [ { "disease_id": "DOID:0080102", "recommended_name": { "id": "DOID:0080102", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080102", "name": "congenital myopathy 4A", "description": "A congenital myopathy that is characterized by skeletal muscle weakness, particularly in the muscles of the shoulders, upper arms, hips, and thighs." }, "synonyms": [ { "id": "DOID:0080102", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080102", "name": "congenital fiber-type disproportion", "description": "" }, { "id": "DOID:0080102", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080102", "name": "CFTD", "description": "" }, { "id": "MONDO:0800341", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0800341", "name": "congenital myopathy 4A, autosomal dominant", "description": "" }, { "id": "MONDO:0800341", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0800341", "name": "CAPM1", "description": "" }, { "id": "MONDO:0800341", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0800341", "name": "CFTD", "description": "" }, { "id": "MONDO:0800341", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0800341", "name": "CFTDM", "description": "" }, { "id": "MONDO:0800341", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0800341", "name": "NEM1", "description": "" }, { "id": "MONDO:0800341", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0800341", "name": "cap myopathy 1", "description": "" }, { "id": "MONDO:0800341", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0800341", "name": "fiber-type disproportion myopathy, congenital", "description": "" }, { "id": "MONDO:0800341", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0800341", "name": "myopathy, congenital, with fiber-type disproportion", "description": "" }, { "id": "MONDO:0800341", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0800341", "name": "nemaline myopathy 1", "description": "" }, { "id": "MIM:255310", "resource": "MIM", "url": "https://www.omim.org/entry/255310", "name": "Congenital myopathy 4A, autosomal dominant", "description": "Congenital myopathy 4A, autosomal dominant" } ], "evidence": [ { "id": "255310", "database": "MIM", "url": "https://www.omim.org/entry/255310" } ] }, { "disease_id": "DOID:0110926", "recommended_name": { "id": "DOID:0110926", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110926", "name": "nemaline myopathy 1", "description": "A nemaline myopathy characterized by onset typically in early childhood of mildly delayed motor development, hypotonia, generalized muscle weakness, and weakness of the proximal limb muscles and neck muscles, resulting in difficulty running and easy fatigability that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the TPM3 gene on chromosome 1q21." }, "synonyms": [ { "id": "DOID:0110926", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110926", "name": "NEM1", "description": "" }, { "id": "DOID:0110926", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110926", "name": "nemaline myopathy 1, autosomal dominant or recessive", "description": "" }, { "id": "DOID:0110926", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110926", "name": "congenital myopathy 4B", "description": "" }, { "id": "MONDO:0012239", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012239", "name": "congenital myopathy 4B, autosomal recessive", "description": "Any congenital myopathy in which the cause of the disease is a mutation in the TPM3 gene." }, { "id": "MONDO:0012239", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012239", "name": "TPM3 nemaline myopathy", "description": "" }, { "id": "MONDO:0012239", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012239", "name": "nemaline myopathy caused by mutation in TPM3", "description": "" }, { "id": "MONDO:0012239", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012239", "name": "NEM1", "description": "" }, { "id": "MONDO:0012239", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012239", "name": "Nem1", "description": "" }, { "id": "MONDO:0012239", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012239", "name": "nemaline myopathy 1", "description": "" }, { "id": "MONDO:0012239", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012239", "name": "nemaline myopathy 1, autosomal dominant or recessive", "description": "" }, { "id": "MONDO:0012239", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012239", "name": "nemaline myopathy type 1", "description": "" }, { "id": "MIM:609284", "resource": "MIM", "url": "https://www.omim.org/entry/609284", "name": "Congenital myopathy 4B, autosomal recessive", "description": "Congenital myopathy 4B, autosomal recessive" } ], "evidence": [ { "id": "609284", "database": "MIM", "url": "https://www.omim.org/entry/609284" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "77.43", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000143549", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000143549" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "41.27", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000143549", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000143549" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "98.81", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000143549", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000143549" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "98.4", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000143549", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000143549" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "99.27", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000143549", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000143549" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "73.79", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000143549", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000143549" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "92.02", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000143549", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000143549" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "86.36", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000143549", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000143549" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "96.42", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000143549", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000143549" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "92.96", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000143549", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000143549" } ] } ], "expression_disease": [ { "significant": "No", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P06753", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P06753" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", 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"https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, 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"https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P06753", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P06753" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor 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"https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", 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"name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": 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"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 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P06753" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine 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"resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "P06753", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P06753" } ], "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "P06753", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P06753" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "P06753", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P06753" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "P06753", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P06753" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "P06753", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P06753" } ], "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Esophageal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "P06753", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P06753" } ], "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": 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"id": "A0A087WWU8", "url": "https://www.uniprot.org/uniprot/A0A087WWU8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A087WWU8-1", "url": "https://www.uniprot.org/uniprot/A0A087WWU8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A2R2Y2Q3", "url": "https://www.uniprot.org/uniprot/A0A2R2Y2Q3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A2R2Y2Q3-1", "url": "https://www.uniprot.org/uniprot/A0A2R2Y2Q3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A494C034", "url": "https://www.uniprot.org/uniprot/A0A494C034", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A494C034-1", "url": "https://www.uniprot.org/uniprot/A0A494C034-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A494C0G0", "url": "https://www.uniprot.org/uniprot/A0A494C0G0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A494C0G0-1", "url": "https://www.uniprot.org/uniprot/A0A494C0G0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A494C0P6", "url": "https://www.uniprot.org/uniprot/A0A494C0P6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A494C0P6-1", "url": "https://www.uniprot.org/uniprot/A0A494C0P6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "D6R904", "url": "https://www.uniprot.org/uniprot/D6R904", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "D6R904-1", "url": "https://www.uniprot.org/uniprot/D6R904-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "D6RGJ6", "url": "https://www.uniprot.org/uniprot/D6RGJ6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "D6RGJ6-1", "url": "https://www.uniprot.org/uniprot/D6RGJ6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "J3KN67", "url": "https://www.uniprot.org/uniprot/J3KN67", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "J3KN67-1", "url": "https://www.uniprot.org/uniprot/J3KN67-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P06753", "url": "https://www.uniprot.org/uniprot/P06753", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P06753-1", "url": "https://www.uniprot.org/uniprot/P06753-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P06753-2", "url": "https://www.uniprot.org/uniprot/P06753-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P06753-3", "url": "https://www.uniprot.org/uniprot/P06753-3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P06753-4", "url": "https://www.uniprot.org/uniprot/P06753-4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P06753-5", "url": "https://www.uniprot.org/uniprot/P06753-5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P06753-6", "url": "https://www.uniprot.org/uniprot/P06753-6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P06753-7", "url": "https://www.uniprot.org/uniprot/P06753-7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q5VU61", "url": "https://www.uniprot.org/uniprot/Q5VU61", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q5VU61-1", "url": "https://www.uniprot.org/uniprot/Q5VU61-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MMEAIKKKMQMLKLDKENALDRAEQAEAEQKQAEERSKQLEDELAAMQKKLKGTEDELDKYSEALKDAQEKLELAEKKAADAEAEVASLNRRIQLVEEELDRAQERLATALQKLEEAEKAADESERGMKVIENRALKDEEKMELQEIQLKEAKHIAEEADRKYEEVARKLVIIEGDLERTEERAELAESKCSELEEELKNVTNNLKSLEAQAEKYSQKEDKYEEEIKILTDKLKEAETRAEFAERSVAKLEKTIDDLEDELYAQKLKYKAISEELDHALNDMTSI", "length": 285, "header": "sp|P06753-1|TPM3_HUMAN Isoform 1 of Tropomyosin alpha-3 chain OS=Homo sapiens OX=9606 GN=TPM3 PE=1 SV=2 CANONICAL=P06753-1" }, "isoforms": [ { "isoform_ac": "A0A087WWU8-1", "url": "", "sequence": { "sequence": "MAGITTIEAVKRKIQVLQQQADDAEERAERLQREVEGERRAREQAEAEVASLNRRIQLVEEELDRAQERLATALQKLEEAEKAADESERGMKVIENRALKDEEKMELQEIQLKEAKHIAEEADRKYEEVARKLVIIEGDLERTEERAELAESRCREMDEQIRLMDQNLKCLSAAEEKAETRAEFAERSVAKLEKTIDDLEDKLKCTKEEHLCTQRMLDQTLLDLNEM", "length": 227, "header": "tr|A0A087WWU8-1|A0A087WWU8_HUMAN Computationally mapped isoform of Tropomyosin 3 OS=Homo sapiens OX=9606 GN=TPM3 PE=1 SV=1 CANONICAL=P06753-1" }, "locus": { "chromosome": "1", "start_pos": 154183119, "end_pos": 154157642, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000611659.5", "url": "https://www.ensembl.org/id/ENST00000611659.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000480520.1", "url": "https://www.ensembl.org/id/ENSP00000480520.1" } ] } }, { "isoform_ac": "A0A2R2Y2Q3-1", "url": "", "sequence": { "sequence": "MMEAIKKKMQMLKLDKENALDRAEQAEAEQKQAEERSKQLEDELAAMQKKLKGTEDELDKYSEALKDAQEKLELAEKKAADAEAEVASLNRRIQLVEEELDRAQERLATALQKLEEAEKAADESERGMKVIENRALKDEEKMELQEIQLKEAKHIAEEADRKYEEVARKLVIIEGDLERTEERAELAESRCREMDEQIRLMDQNLKCLSAAEEKYSQKEDKYEEEIKILTDKLKEAETRAEFAERSVAKLEKTIDDLEDELYAQKLKYKAISEELDHALNDMTSI", "length": 285, "header": "tr|A0A2R2Y2Q3-1|A0A2R2Y2Q3_HUMAN Computationally mapped isoform of Tropomyosin 3 OS=Homo sapiens OX=9606 GN=TPM3 PE=1 SV=1 CANONICAL=P06753-1" }, "locus": { "chromosome": "1", "start_pos": 154192018, "end_pos": 154167940, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000368530.7", "url": "https://www.ensembl.org/id/ENST00000368530.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000357516.3", "url": "https://www.ensembl.org/id/ENSP00000357516.3" } ] } }, { "isoform_ac": "A0A494C034-1", "url": "", "sequence": { "sequence": "XAEKYSQKEDKYEEEIKILTDKLKEAETRAEFAERSVAKLEKTIDDLEDELYAQKLKYKAISEELDHALNDMTSIIDQAALRDKDPDNAAGCGGSCL", "length": 97, "header": "tr|A0A494C034-1|A0A494C034_HUMAN Computationally mapped isoform of Tropomyosin 3 OS=Homo sapiens OX=9606 GN=TPM3 PE=1 SV=1 CANONICAL=P06753-1" }, "locus": { "chromosome": "1", "start_pos": 154171423, "end_pos": 154161711, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000651731.1", "url": "https://www.ensembl.org/id/ENST00000651731.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000498347.1", "url": "https://www.ensembl.org/id/ENSP00000498347.1" } ] } }, { "isoform_ac": "A0A494C0G0-1", "url": "", "sequence": { "sequence": "XRAERLQREVEGERRAREQAEAEVASLNRRIQLVEEELDRAQERLATALQKLEEAEKAADESERLECNGSISAHRNLHLLSSSDSPA", "length": 87, "header": "tr|A0A494C0G0-1|A0A494C0G0_HUMAN Computationally mapped isoform of Tropomyosin 3 OS=Homo sapiens OX=9606 GN=TPM3 PE=1 SV=1 CANONICAL=P06753-1" }, "locus": { "chromosome": "1", "start_pos": 154183042, "end_pos": 154173565, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000651873.1", "url": "https://www.ensembl.org/id/ENST00000651873.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000498531.1", "url": "https://www.ensembl.org/id/ENSP00000498531.1" } ] } }, { "isoform_ac": "A0A494C0P6-1", "url": "", "sequence": { "sequence": "MMEAIKKKMQMLKLDKENALDRAEQAEAEQKQAEERSKQLEDELAAMQKKLKGTEDELDKYSEALKDAQEKLELAEKKAADAEAEVASLNRRIQLVEEELDRAQERLATALQKLEEAEKAADESERGMKVIENRALKDEEKMELQEIQLKEAKHIAEEADRKYEEVARKLVIIEGDLERTEERAELAESRCREMDEQIRLMDQNLKCLSAAEEK", "length": 214, "header": "tr|A0A494C0P6-1|A0A494C0P6_HUMAN Computationally mapped isoform of Tropomyosin 3 OS=Homo sapiens OX=9606 GN=TPM3 PE=1 SV=1 CANONICAL=P06753-1" }, "locus": { "chromosome": "1", "start_pos": 154192018, "end_pos": 154172029, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000651644.1", "url": "https://www.ensembl.org/id/ENST00000651644.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000498648.1", "url": "https://www.ensembl.org/id/ENSP00000498648.1" } ] } }, { "isoform_ac": "D6R904-1", "url": "", "sequence": { "sequence": "MAGITTIEAVKRKIQVLQQQADDAEERAERLQREVEGERRAREQAEAEVASLNRRIQLVEEELDRAQERLATALQKLEEAEKAADESERWMSRLD", "length": 95, "header": "tr|D6R904-1|D6R904_HUMAN Computationally mapped isoform of Tropomyosin 3 OS=Homo sapiens OX=9606 GN=TPM3 PE=1 SV=1 CANONICAL=P06753-1" }, "locus": { "chromosome": "1", "start_pos": 154183119, "end_pos": 154172073, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000509601.1", "url": "https://www.ensembl.org/id/ENST00000509601.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000422207.1", "url": "https://www.ensembl.org/id/ENSP00000422207.1" } ] } }, { "isoform_ac": "D6RGJ6-1", "url": "", "sequence": { "sequence": "MMEAIKKKMQMLKLDKENALDRAEQAEAEQKQAEERSKQLEDELAAMQKKLKGTEDELDKYSEALKDAQEKLELA", "length": 75, "header": "tr|D6RGJ6-1|D6RGJ6_HUMAN Computationally mapped isoform of Tropomyosin 3 OS=Homo sapiens OX=9606 GN=TPM3 PE=1 SV=1 CANONICAL=P06753-1" }, "locus": { "chromosome": "1", "start_pos": 154192018, "end_pos": 154191204, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000515609.1", "url": "https://www.ensembl.org/id/ENST00000515609.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000426306.1", "url": "https://www.ensembl.org/id/ENSP00000426306.1" } ] } }, { "isoform_ac": "J3KN67-1", "url": "", "sequence": { "sequence": "MMEAIKKKMQMLKLDKENALDRAEQAEAEQKQAEERSKQLEDELAAMQKKLKGTEDELDKYSEALKDAQEKLELAEKKAADAEAEVASLNRRIQLVEEELDRAQERLATALQKLEEAEKAADESERGMKVIENRALKDEEKMELQEIQLKEAKHIAEEADRKYEEVARKLVIIEGDLERTEERAELAESRCREMDEQIRLMDQNLKCLSAAEEKYSQKEDKYEEEIKILTDKLKEAETRAEFAERSVAKLEKTIDDLEDKLKCTKEEHLCTQRMLDQTLLDLNEM", "length": 285, "header": "tr|J3KN67-1|J3KN67_HUMAN Computationally mapped isoform of Tropomyosin 3 OS=Homo sapiens OX=9606 GN=TPM3 PE=1 SV=1 CANONICAL=P06753-1" }, "locus": { "chromosome": "1", "start_pos": 154192018, "end_pos": 154157642, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000271850.11", "url": "https://www.ensembl.org/id/ENST00000271850.11" }, { "database": "Ensembl Peptide", "id": "ENSP00000271850.7", "url": "https://www.ensembl.org/id/ENSP00000271850.7" } ] } }, { "isoform_ac": "P06753-1", "url": "", "sequence": { "sequence": "MMEAIKKKMQMLKLDKENALDRAEQAEAEQKQAEERSKQLEDELAAMQKKLKGTEDELDKYSEALKDAQEKLELAEKKAADAEAEVASLNRRIQLVEEELDRAQERLATALQKLEEAEKAADESERGMKVIENRALKDEEKMELQEIQLKEAKHIAEEADRKYEEVARKLVIIEGDLERTEERAELAESKCSELEEELKNVTNNLKSLEAQAEKYSQKEDKYEEEIKILTDKLKEAETRAEFAERSVAKLEKTIDDLEDELYAQKLKYKAISEELDHALNDMTSI", "length": 285, "header": "sp|P06753-1|TPM3_HUMAN Isoform 1 of Tropomyosin alpha-3 chain OS=Homo sapiens OX=9606 GN=TPM3 PE=1 SV=2 CANONICAL=P06753-1" }, "locus": { "chromosome": "1", "start_pos": 154192018, "end_pos": 154167940, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000651641.1", "url": "https://www.ensembl.org/id/ENST00000651641.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000498577.1", "url": "https://www.ensembl.org/id/ENSP00000498577.1" } ] } }, { "isoform_ac": "P06753-2", "url": "", "sequence": { "sequence": "MAGITTIEAVKRKIQVLQQQADDAEERAERLQREVEGERRAREQAEAEVASLNRRIQLVEEELDRAQERLATALQKLEEAEKAADESERGMKVIENRALKDEEKMELQEIQLKEAKHIAEEADRKYEEVARKLVIIEGDLERTEERAELAESRCREMDEQIRLMDQNLKCLSAAEEKYSQKEDKYEEEIKILTDKLKEAETRAEFAERSVAKLEKTIDDLEDKLKCTKEEHLCTQRMLDQTLLDLNEM", "length": 248, "header": "sp|P06753-2|TPM3_HUMAN Isoform 2 of Tropomyosin alpha-3 chain OS=Homo sapiens OX=9606 GN=TPM3 PE=1 SV=2 CANONICAL=P06753-1" }, "locus": { "chromosome": "1", "start_pos": 154183119, "end_pos": 154157642, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000368533.8", "url": "https://www.ensembl.org/id/ENST00000368533.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000357521.3", "url": "https://www.ensembl.org/id/ENSP00000357521.3" } ] } }, { "isoform_ac": "P06753-3", "url": "", "sequence": { "sequence": "MAGITTIEAVKRKIQVLQQQADDAEERAERLQREVEGERRAREQAEAEVASLNRRIQLVEEELDRAQERLATALQKLEEAEKAADESERGMKVIENRALKDEEKMELQEIQLKEAKHIAEEADRKYEEVARKLVIIEGDLERTEERAELAESRCREMDEQIRLMDQNLKCLSAAEEKYSQKEDKYEEEIKILTDKLKEAETRAEFAERSVAKLEKTIDDLEERLYSQLERNRLLSNELKLTLHDLCD", "length": 247, "header": "sp|P06753-3|TPM3_HUMAN Isoform 3 of Tropomyosin alpha-3 chain OS=Homo sapiens OX=9606 GN=TPM3 PE=1 SV=2 CANONICAL=P06753-1" }, "locus": { "chromosome": "1", "start_pos": 154183119, "end_pos": 154158972, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000368531.6", "url": "https://www.ensembl.org/id/ENST00000368531.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000357517.2", "url": "https://www.ensembl.org/id/ENSP00000357517.2" } ] } }, { "isoform_ac": "P06753-4", "url": "", "sequence": { "sequence": "MAGITTIEAVKRKIQVLQQQADDAEERAERLQREVEGERRAREQAEAEVASLNRRIQLVEEELDRAQERLATALQKLEEAEKAADESERGMKVIENRALKDEEKMELQEIQLKEAKHIAEEADRKYEEVARKLVIIEGDLERTEERAELAESKCSELEEELKNVTNNLKSLEAQAEKYSQKEDKYEEEIKILTDKLKEAETRAEFAERSVAKLEKTIDDLEERLYSQLERNRLLSNELKLTLHDLCD", "length": 247, "header": "sp|P06753-4|TPM3_HUMAN Isoform 4 of Tropomyosin alpha-3 chain OS=Homo sapiens OX=9606 GN=TPM3 PE=1 SV=2 CANONICAL=P06753-1" }, "locus": { "chromosome": "1", "start_pos": 154183119, "end_pos": 154158972, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000341485.10", "url": "https://www.ensembl.org/id/ENST00000341485.10" }, { "database": "Ensembl Peptide", "id": "ENSP00000341653.6", "url": "https://www.ensembl.org/id/ENSP00000341653.6" } ] } }, { "isoform_ac": "P06753-5", "url": "", "sequence": { "sequence": "MAGITTIEAVKRKIQVLQQQADDAEERAERLQREVEGERRAREQAEAEVASLNRRIQLVEEELDRAQERLATALQKLEEAEKAADESERGMKVIENRALKDEEKMELQEIQLKEAKHIAEEADRKYEEVARKLVIIEGDLERTEERAELAESKCSELEEELKNVTNNLKSLEAQAEKYSQKEDKYEEEIKILTDKLKEAETRAEFAERSVAKLEKTIDDLEDKLKCTKEEHLCTQRMLDQTLLDLNEM", "length": 248, "header": "sp|P06753-5|TPM3_HUMAN Isoform 5 of Tropomyosin alpha-3 chain OS=Homo sapiens OX=9606 GN=TPM3 PE=1 SV=2 CANONICAL=P06753-1" }, "locus": { "chromosome": "1", "start_pos": 154183119, "end_pos": 154157642, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000330188.13", "url": "https://www.ensembl.org/id/ENST00000330188.13" }, { "database": "Ensembl Peptide", "id": "ENSP00000339035.7", "url": "https://www.ensembl.org/id/ENSP00000339035.7" } ] } }, { "isoform_ac": "P06753-6", "url": "", "sequence": { "sequence": "MAGITTIEAVKRKIQVLQQQADDAEERAERLQREVEGERRAREQAEAEVASLNRRIQLVEEELDRAQERLATALQKLEEAEKAADESERGMKVIENRALKDEEKMELQEIQLKEAKHIAEEADRKYEEVARKLVIIEGDLERTEERAELAESRCREMDEQIRLMDQNLKCLSAAEEKYSQKEDKYEEEIKILTDKLKEAETRAEFAERSVAKLEKTIDDLEDELYAQKLKYKAISEELDHALNDMTSI", "length": 248, "header": "sp|P06753-6|TPM3_HUMAN Isoform 6 of Tropomyosin alpha-3 chain OS=Homo sapiens OX=9606 GN=TPM3 PE=1 SV=2 CANONICAL=P06753-1" }, "locus": { "chromosome": "1", "start_pos": 154183119, "end_pos": 154157721, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000328159.9", "url": "https://www.ensembl.org/id/ENST00000328159.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000357520.1", "url": "https://www.ensembl.org/id/ENSP00000357520.1" } ] } }, { "isoform_ac": "P06753-7", "url": "", "sequence": { "sequence": "MKVIENRALKDEEKMELQEIQLKEAKHIAEEADRKYEEVARKLVIIEGDLERTEERAELAESKCSELEEELKNVTNNLKSLEAQAEKYSQKEDKYEEEIKILTDKLKEAETRAEFAERSVAKLEKTIDDLEDKLKCTKEEHLCTQRMLDQTLLDLNEM", "length": 158, "header": "sp|P06753-7|TPM3_HUMAN Isoform 7 of Tropomyosin alpha-3 chain OS=Homo sapiens OX=9606 GN=TPM3 PE=1 SV=2 CANONICAL=P06753-1" }, "locus": { "chromosome": "1", "start_pos": 154173197, "end_pos": 154157642, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000302206.9", "url": "https://www.ensembl.org/id/ENST00000302206.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000307712.5", "url": "https://www.ensembl.org/id/ENSP00000307712.5" } ] } }, { "isoform_ac": "Q5VU61-1", "url": "", "sequence": { "sequence": "MAGITTIEAVKRKIQVLQQQADDAEERAERLQREVEGERRAREQRYEGY", "length": 49, "header": "tr|Q5VU61-1|Q5VU61_HUMAN Computationally mapped isoform of Tropomyosin 3 OS=Homo sapiens OX=9606 GN=TPM3 PE=1 SV=3 CANONICAL=P06753-1" }, "locus": { "chromosome": "1", "start_pos": 154183119, "end_pos": 154173187, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000509409.5", "url": "https://www.ensembl.org/id/ENST00000509409.5" }, { 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Delsol G, Mariame B", "evidence": [ { "database": "Reactome", "id": "R-HSA-9725370", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9725370" } ], "reference": [ { "type": "PubMed", "id": "10216106", "url": "https://glygen.org/publication/PubMed/10216106" } ] }, { "title": "TRK-fused gene (TFG) is a new partner of ALK in anaplastic large cell lymphoma producing two structurally different TFG-ALK translocations.", "journal": "Blood", "date": "1999", "authors": "Hernandez L, Pinyol M, Hernandez S, Bea S, Pulford K, Rosenwald A, Lamant L, Falini B, Ott G, Mason DY, Delsol G, Campo E", "evidence": [ { "database": "Reactome", "id": "R-HSA-9725370", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9725370" } ], "reference": [ { "type": "PubMed", "id": "10556217", "url": "https://glygen.org/publication/PubMed/10556217" } ] }, { "title": "A nemaline myopathy mutation in alpha-tropomyosin causes defective regulation of striated muscle force production.", "journal": "The Journal of clinical investigation", "date": "1999", "authors": "Michele DE, Albayya FP, Metzger JM", "evidence": [ { "database": "UniProtKB", "id": "P06753", "url": "https://www.uniprot.org/uniprot/P06753" } ], "reference": [ { "type": "PubMed", "id": "10587521", "url": "https://glygen.org/publication/PubMed/10587521" } ] }, { "title": "ATIC-ALK: A novel variant ALK gene fusion in anaplastic large cell lymphoma resulting from the recurrent cryptic chromosomal inversion, inv(2)(p23q35).", "journal": "The American journal of pathology", "date": "2000", "authors": "Colleoni GW, Bridge JA, Garicochea B, Liu J, Filippa DA, Ladanyi M", "evidence": [ { "database": "Reactome", "id": "R-HSA-9725370", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9725370" } ], "reference": [ { "type": "PubMed", "id": "10702393", "url": "https://glygen.org/publication/PubMed/10702393" } ] }, { "title": "A new variant anaplastic lymphoma kinase (ALK)-fusion protein (ATIC-ALK) in a case of ALK-positive anaplastic large cell lymphoma.", "journal": "Cancer research", "date": "2000", "authors": "Trinei M, Lanfrancone L, Campo E, Pulford K, Mason DY, Pelicci PG, Falini B", "evidence": [ { "database": "Reactome", "id": "R-HSA-9725370", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9725370" } ], "reference": [ { "type": "PubMed", "id": "10706082", "url": "https://glygen.org/publication/PubMed/10706082" } ] }, { "title": "Inv(2)(p23q35) in anaplastic large-cell lymphoma induces constitutive anaplastic lymphoma kinase (ALK) tyrosine kinase activation by fusion to ATIC, an enzyme involved in purine nucleotide biosynthesis.", "journal": "Blood", "date": "2000", "authors": "Ma Z, Cools J, Marynen P, Cui X, Siebert R, Gesk S, Schlegelberger B, Peeters B, De Wolf-Peeters C, Wlodarska I, Morris SW", "evidence": [ { "database": "Reactome", "id": "R-HSA-9725370", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9725370" } ], "reference": [ { "type": "PubMed", "id": "10706887", "url": 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"title": "Mibefradil block of cloned T-type calcium channels.", "journal": "The Journal of pharmacology and experimental therapeutics", "date": "2000", "authors": "Martin RL, Lee JH, Cribbs LL, Perez-Reyes E, Hanck DA", "evidence": [ { "database": "Reactome", "id": "R-HSA-445355", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-445355" } ], "reference": [ { "type": "PubMed", "id": "10991994", "url": "https://glygen.org/publication/PubMed/10991994" } ] }, { "title": "Nucleophosmin-anaplastic lymphoma kinase associated with anaplastic large-cell lymphoma activates the phosphatidylinositol 3-kinase/Akt antiapoptotic signaling pathway.", "journal": "Blood", "date": "2000", "authors": "Bai RY, Ouyang T, Miething C, Morris SW, Peschel C, Duyster J", "evidence": [ { "database": "Reactome", "id": "R-HSA-9725370", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9725370" } ], "reference": [ { "type": "PubMed", "id": "11110708", "url": 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Gangopadhyay SS", "evidence": [ { "database": "Reactome", "id": "R-HSA-445355", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-445355" } ], "reference": [ { "type": "PubMed", "id": "11457814", "url": "https://glygen.org/publication/PubMed/11457814" } ] }, { "title": "A phosphatidylinositol 3-kinase/Akt pathway promotes translocation of Mdm2 from the cytoplasm to the nucleus.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2001", "authors": "Mayo LD, Donner DB", "evidence": [ { "database": "Reactome", "id": "R-HSA-9725370", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9725370" } ], "reference": [ { "type": "PubMed", "id": "11504915", "url": "https://glygen.org/publication/PubMed/11504915" } ] }, { "title": "The sarcolemmal proteins dysferlin and caveolin-3 interact in skeletal muscle.", "journal": "Human molecular genetics", "date": "2001", "authors": "Matsuda C, Hayashi YK, Ogawa M, Aoki M, Murayama K, Nishino I, Nonaka I, Arahata K, Brown RH Jr", "evidence": [ { "database": "Reactome", "id": "R-HSA-445355", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-445355" } ], "reference": [ { "type": "PubMed", "id": "11532985", "url": "https://glygen.org/publication/PubMed/11532985" } ] }, { "title": "Multilevel dysregulation of STAT3 activation in anaplastic lymphoma kinase-positive T/null-cell lymphoma.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "2002", "authors": "Zhang Q, Raghunath PN, Xue L, Majewski M, Carpentieri DF, Odum N, Morris S, Skorski T, Wasik MA", "evidence": [ { "database": "Reactome", "id": "R-HSA-9725370", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9725370" } ], "reference": [ { "type": "PubMed", "id": "11751994", "url": "https://glygen.org/publication/PubMed/11751994" } ] }, { "title": "Anaplastic lymphoma kinase (ALK) activates Stat3 and protects hematopoietic cells from cell death.", "journal": "Oncogene", "date": "2002", "authors": "Zamo A, Chiarle R, Piva R, Howes J, Fan Y, Chilosi M, Levy DE, Inghirami G", "evidence": [ { "database": "Reactome", "id": "R-HSA-9725370", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9725370" } ], "reference": [ { "type": "PubMed", "id": "11850821", "url": "https://glygen.org/publication/PubMed/11850821" } ] }, { "title": "Functional and biochemical analysis of endothelial (dys)function and NO/cGMP signaling in human blood vessels with and without nitroglycerin pretreatment.", "journal": "Circulation", "date": "2002", "authors": "Schulz E, Tsilimingas N, Rinze R, Reiter B, Wendt M, Oelze M, Woelken-Weckmuller S, Walter U, Reichenspurner H, Meinertz T, Munzel T", "evidence": [ { "database": "Reactome", "id": "R-HSA-445355", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-445355" } ], "reference": [ { "type": "PubMed", "id": "11889009", "url": "https://glygen.org/publication/PubMed/11889009" } ] }, { "title": "Diversity of genomic breakpoints in TFG-ALK translocations in anaplastic large cell lymphomas: identification of a new TFG-ALK(XL) chimeric gene with transforming activity.", "journal": "The American journal of pathology", "date": "2002", "authors": "Hernandez L, Bea S, Bellosillo B, Pinyol M, Falini B, Carbone A, Ott G, Rosenwald A, Fernandez A, Pulford K, Mason D, Morris SW, Santos E, Campo E", "evidence": [ { "database": "Reactome", "id": "R-HSA-9725370", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9725370" } ], "reference": [ { "type": "PubMed", "id": "11943732", "url": "https://glygen.org/publication/PubMed/11943732" } ] }, { "title": "AP-1 as a regulator of cell life and death.", "journal": "Nature cell biology", "date": "2002", "authors": "Shaulian E, Karin M", "evidence": [ { "database": "Reactome", "id": "R-HSA-9725370", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9725370" } ], "reference": [ { "type": "PubMed", "id": "11988758", "url": "https://glygen.org/publication/PubMed/11988758" } ] }, { "title": 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"https://glygen.org/publication/PubMed/12105844" } ] }, { "title": "Identification of novel fusion partners of ALK, the anaplastic lymphoma kinase, in anaplastic large-cell lymphoma and inflammatory myofibroblastic tumor.", "journal": "Genes, chromosomes & cancer", "date": "2002", "authors": "Cools J, Wlodarska I, Somers R, Mentens N, Pedeutour F, Maes B, De Wolf-Peeters C, Pauwels P, Hagemeijer A, Marynen P", "evidence": [ { "database": "Reactome", "id": "R-HSA-9725370", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9725370" } ], "reference": [ { "type": "PubMed", "id": "12112524", "url": "https://glygen.org/publication/PubMed/12112524" } ] }, { "title": "Activation of anaplastic lymphoma kinase is responsible for hyperphosphorylation of ShcC in neuroblastoma cell lines.", "journal": "Oncogene", "date": "2002", "authors": "Miyake I, Hakomori Y, Shinohara A, Gamou T, Saito M, Iwamatsu A, Sakai R", "evidence": [ { "database": "Reactome", "id": "R-HSA-9725370", "url": 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[ { "type": "PubMed", "id": "12574106", "url": "https://glygen.org/publication/PubMed/12574106" } ] }, { "title": "ALK activation by the CLTC-ALK fusion is a recurrent event in large B-cell lymphoma.", "journal": "Blood", "date": "2003", "authors": "De Paepe P, Baens M, van Krieken H, Verhasselt B, Stul M, Simons A, Poppe B, Laureys G, Brons P, Vandenberghe P, Speleman F, Praet M, De Wolf-Peeters C, Marynen P, Wlodarska I", "evidence": [ { "database": "Reactome", "id": "R-HSA-9725370", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9725370" } ], "reference": [ { "type": "PubMed", "id": "12750159", "url": "https://glygen.org/publication/PubMed/12750159" } ] }, { "title": "Non-muscle myosin heavy chain (MYH9): a new partner fused to ALK in anaplastic large cell lymphoma.", "journal": "Genes, chromosomes & cancer", "date": "2003", "authors": "Lamant L, Gascoyne RD, Duplantier MM, Armstrong F, Raghab A, Chhanabhai M, Rajcan-Separovic E, Raghab J, Delsol G, Espinos E", "evidence": [ { "database": "Reactome", "id": "R-HSA-9725370", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9725370" } ], "reference": [ { "type": "PubMed", "id": "12800156", "url": "https://glygen.org/publication/PubMed/12800156" } ] }, { "title": "Microsequences of 145 proteins recorded in the two-dimensional gel protein database of normal human epidermal keratinocytes.", "journal": "Electrophoresis", "date": "1992", "authors": "Rasmussen HH, van Damme J, Puype M, Gesser B, Celis JE, Vandekerckhove J", "evidence": [ { "database": "UniProtKB", "id": "P06753", "url": "https://www.uniprot.org/uniprot/P06753" } ], "reference": [ { "type": "PubMed", "id": "1286667", "url": "https://glygen.org/publication/PubMed/1286667" } ] }, { "title": "ALK+, CD30-, CD20- large B-cell lymphoma containing anaplastic lymphoma kinase (ALK) fused to clathrin heavy chain gene (CLTC).", "journal": "Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc", "date": "2003", "authors": "Chikatsu N, Kojima H, Suzukawa K, Shinagawa A, Nagasawa T, Ozawa H, Yamashita Y, Mori N", "evidence": [ { "database": "Reactome", "id": "R-HSA-9725370", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9725370" } ], "reference": [ { "type": "PubMed", "id": "12920229", "url": "https://glygen.org/publication/PubMed/12920229" } ] }, { "title": "Inhibition of JAK3 induces apoptosis and decreases anaplastic lymphoma kinase activity in anaplastic large cell lymphoma.", "journal": "Oncogene", "date": "2003", "authors": "Amin HM, Medeiros LJ, Ma Y, Feretzaki M, Das P, Leventaki V, Rassidakis GZ, O'Connor SL, McDonnell TJ, Lai R", "evidence": [ { "database": "Reactome", "id": "R-HSA-9725370", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9725370" } ], "reference": [ { "type": "PubMed", "id": "12934099", "url": "https://glygen.org/publication/PubMed/12934099" } ] }, { "title": "Dysferlin interacts with annexins A1 and A2 and mediates sarcolemmal wound-healing.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Lennon NJ, Kho A, Bacskai BJ, Perlmutter SL, Hyman BT, Brown RH Jr", "evidence": [ { "database": "Reactome", "id": "R-HSA-445355", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-445355" } ], "reference": [ { "type": "PubMed", "id": "14506282", "url": "https://glygen.org/publication/PubMed/14506282" } ] }, { "title": "Rho GTPases have diverse effects on the organization of the actin filament system.", "journal": "The Biochemical journal", "date": "2004", "authors": "Aspenstrom P, Fransson A, Saras J", "evidence": [ { "database": "Reactome", "id": "R-HSA-9013424", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013424" } ], "reference": [ { "type": "PubMed", "id": "14521508", "url": "https://glygen.org/publication/PubMed/14521508" } ] }, { "title": "Smooth muscle contraction and relaxation.", "journal": "Advances in physiology education", "date": "2003", "authors": "Webb RC", "evidence": [ { "database": "Reactome", "id": "R-HSA-445355", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-445355" } ], "reference": [ { "type": "PubMed", "id": "14627618", "url": "https://glygen.org/publication/PubMed/14627618" } ] }, { "title": "NPM-ALK fusion kinase of anaplastic large-cell lymphoma regulates survival and proliferative signaling through modulation of FOXO3a.", "journal": "Blood", "date": "2004", "authors": "Gu TL, Tothova Z, Scheijen B, Griffin JD, Gilliland DG, Sternberg DW", "evidence": [ { "database": "Reactome", "id": "R-HSA-9725370", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9725370" } ], "reference": [ { "type": "PubMed", "id": "14962911", "url": "https://glygen.org/publication/PubMed/14962911" } ] }, { "title": "Stabilization of Mdm2 via decreased ubiquitination is mediated by protein kinase B/Akt-dependent phosphorylation.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Feng J, Tamaskovic R, Yang Z, Brazil DP, Merlo A, Hess D, Hemmings BA", "evidence": [ { "database": "Reactome", "id": "R-HSA-9725370", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9725370" } ], "reference": [ { "type": "PubMed", "id": "15169778", "url": "https://glygen.org/publication/PubMed/15169778" } ] }, { "title": "Differential effects of X-ALK fusion proteins on proliferation, transformation, and invasion properties of NIH3T3 cells.", "journal": "Oncogene", "date": "2004", "authors": "Armstrong F, Duplantier MM, Trempat P, Hieblot C, Lamant L, Espinos E, Racaud-Sultan C, Allouche M, Campo E, Delsol G, Touriol C", "evidence": [ { "database": "Reactome", "id": "R-HSA-9725370", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9725370" } ], "reference": [ { "type": "PubMed", "id": "15208656", "url": "https://glygen.org/publication/PubMed/15208656" } ] }, { "title": "Large-scale characterization of HeLa cell nuclear phosphoproteins.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2004", "authors": "Beausoleil SA, Jedrychowski M, Schwartz D, Elias JE, Villen J, Li J, Cohn MA, Cantley LC, Gygi SP", "evidence": [ { "database": "iPTMnet", "id": "P06753-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06753-1" } ], "reference": [ { "type": "PubMed", "id": "15302935", "url": "https://glygen.org/publication/PubMed/15302935" } ] }, { "title": "Inhibition of Akt increases p27Kip1 levels and induces cell cycle arrest in anaplastic large cell lymphoma.", "journal": "Blood", "date": "2005", "authors": "Rassidakis GZ, Feretzaki M, Atwell C, Grammatikakis I, Lin Q, Lai R, Claret FX, Medeiros LJ, Amin HM", "evidence": [ { "database": "Reactome", "id": "R-HSA-9725370", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9725370" } ], "reference": [ { "type": "PubMed", "id": "15374880", "url": "https://glygen.org/publication/PubMed/15374880" } ] }, { "title": "Contribution of aldehyde dehydrogenase to mitochondrial bioactivation of nitroglycerin: evidence for the activation of purified soluble guanylate cyclase through direct formation of nitric oxide.", "journal": "The Biochemical journal", "date": "2005", "authors": "Kollau A, Hofer A, Russwurm M, Koesling D, Keung WM, Schmidt K, Brunner F, Mayer B", "evidence": [ { "database": "Reactome", "id": "R-HSA-445355", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-445355" } ], "reference": [ { "type": "PubMed", "id": "15377279", "url": "https://glygen.org/publication/PubMed/15377279" } ] }, { "title": "NPM/ALK downregulates p27Kip1 in a PI-3K-dependent manner.", "journal": "Experimental hematology", "date": "2004", "authors": "Slupianek A, Skorski T", "evidence": [ { "database": "Reactome", "id": "R-HSA-9725370", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9725370" } ], "reference": [ { "type": "PubMed", "id": "15588951", "url": "https://glygen.org/publication/PubMed/15588951" } ] }, { "title": "Human platelet myosin light chain kinase requires the calcium-binding protein calmodulin for activity.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1979", "authors": "Hathaway DR, Adelstein RS", "evidence": [ { "database": "Reactome", "id": "R-HSA-445355", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-445355" } ], "reference": [ { "type": "PubMed", "id": "156362", "url": "https://glygen.org/publication/PubMed/156362" } ] }, { "title": "Stat3 is required for ALK-mediated lymphomagenesis and provides a possible therapeutic target.", "journal": "Nature medicine", "date": "2005", "authors": "Chiarle R, Simmons WJ, Cai H, Dhall G, Zamo A, Raz R, Karras JG, Levy DE, Inghirami G", "evidence": [ { "database": "Reactome", "id": "R-HSA-9725370", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9725370" } ], "reference": [ { "type": "PubMed", "id": "15895073", "url": "https://glygen.org/publication/PubMed/15895073" } ] }, { "title": "Jak3 activation is significantly associated with ALK expression in anaplastic large cell lymphoma.", "journal": "Human pathology", "date": "2005", "authors": "Lai R, Rassidakis GZ, Lin Q, Atwell C, Medeiros LJ, Amin HM", "evidence": [ { "database": "Reactome", "id": "R-HSA-9725370", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9725370" } ], "reference": [ { "type": "PubMed", "id": "16153455", "url": "https://glygen.org/publication/PubMed/16153455" } ] }, { "title": "Fusion of the SEC31L1 and ALK genes in an inflammatory myofibroblastic tumor.", "journal": "International journal of cancer", "date": "2006", "authors": "Panagopoulos I, Nilsson T, Domanski HA, Isaksson M, Lindblom P, Mertens F, Mandahl N", "evidence": [ { "database": "Reactome", "id": "R-HSA-9725370", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9725370" } ], "reference": [ { "type": "PubMed", "id": "16161041", "url": "https://glygen.org/publication/PubMed/16161041" } ] }, { "title": "Inhibition of ALK enzymatic activity in T-cell lymphoma cells induces apoptosis and suppresses proliferation and STAT3 phosphorylation independently of Jak3.", "journal": "Laboratory investigation; a journal of technical methods and pathology", "date": "2005", "authors": "Marzec M, Kasprzycka M, Ptasznik A, Wlodarski P, Zhang Q, Odum N, Wasik MA", "evidence": [ { "database": "Reactome", "id": "R-HSA-9725370", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9725370" } ], "reference": [ { "type": "PubMed", "id": "16170336", "url": "https://glygen.org/publication/PubMed/16170336" } ] }, { "title": "Emergence of young human genes after a burst of retroposition in primates.", "journal": "PLoS Biol.", "date": "2005", "authors": "Marques AC, Dupanloup I, Vinckenbosch N, Reymond A, Kaessmann H", "evidence": [ { "database": "UniProtKB", "id": "P06753", "url": "https://www.uniprot.org/uniprot/P06753" } ], "reference": [ { "type": "PubMed", "id": "16201836", "url": "https://glygen.org/publication/PubMed/16201836" } ] }, { "title": "Loss of SHP1 enhances JAK3/STAT3 signaling and decreases proteosome degradation of JAK3 and NPM-ALK in ALK+ anaplastic large-cell lymphoma.", "journal": "Blood", "date": "2006", "authors": "Han Y, Amin HM, Franko B, Frantz C, Shi X, Lai R", "evidence": [ { "database": "Reactome", "id": "R-HSA-9725370", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9725370" } ], "reference": [ { "type": "PubMed", "id": "16825495", "url": "https://glygen.org/publication/PubMed/16825495" } ] }, { "title": "Restoration of shp1 expression by 5-AZA-2'-deoxycytidine is associated with downregulation of JAK3/STAT3 signaling in ALK-positive anaplastic large cell lymphoma.", "journal": "Leukemia", "date": "2006", "authors": "Han Y, Amin HM, Frantz C, Franko B, Lee J, Lin Q, Lai R", "evidence": [ { "database": "Reactome", "id": "R-HSA-9725370", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9725370" } ], "reference": [ { "type": "PubMed", "id": "16871283", "url": "https://glygen.org/publication/PubMed/16871283" } ] }, { "title": "JSI-124 (cucurbitacin I) inhibits Janus kinase-3/signal transducer and activator of transcription-3 signalling, downregulates nucleophosmin-anaplastic lymphoma kinase (ALK), and induces apoptosis in ALK-positive anaplastic large cell lymphoma cells.", "journal": "British journal of haematology", "date": "2006", "authors": "Shi X, Franko B, Frantz C, Amin HM, Lai R", "evidence": [ { "database": "Reactome", "id": "R-HSA-9725370", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9725370" } ], "reference": [ { "type": "PubMed", "id": "16939498", "url": "https://glygen.org/publication/PubMed/16939498" } ] }, { "title": "Bioactivation of nitroglycerin by the mitochondrial aldehyde dehydrogenase.", "journal": "Trends in cardiovascular medicine", "date": "2006", "authors": "Chen Z, Stamler JS", "evidence": [ { "database": "Reactome", "id": "R-HSA-445355", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-445355" } ], "reference": [ { "type": "PubMed", "id": "17055381", "url": "https://glygen.org/publication/PubMed/17055381" } ] }, { "title": "Identification of multiple SNT-binding sites on NPM-ALK oncoprotein and their involvement in cell transformation.", "journal": "Oncogene", "date": "2007", "authors": "Chikamori M, Fujimoto J, Tokai-Nishizumi N, Yamamoto T", "evidence": [ { "database": "Reactome", "id": "R-HSA-9725370", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9725370" } ], "reference": [ { "type": "PubMed", "id": "17086210", "url": "https://glygen.org/publication/PubMed/17086210" } ] }, { "title": "Oncogenic tyrosine kinase NPM/ALK induces activation of the rapamycin-sensitive mTOR signaling pathway.", "journal": "Oncogene", "date": "2007", "authors": "Marzec M, Kasprzycka M, Liu X, El-Salem M, Halasa K, Raghunath PN, Bucki R, Wlodarski P, Wasik MA", "evidence": [ { "database": "Reactome", "id": "R-HSA-9725370", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9725370" } ], "reference": [ { "type": "PubMed", "id": "17353907", "url": "https://glygen.org/publication/PubMed/17353907" } ] }, { "title": "Autophosphorylation-dependent degradation of Pak1, triggered by the Rho-family GTPase, Chp.", "journal": "The Biochemical journal", "date": "2007", "authors": "Weisz Hubsman M, Volinsky N, Manser E, Yablonski D, Aronheim A", "evidence": [ { "database": "Reactome", "id": "R-HSA-9013424", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013424" } ], "reference": [ { "type": "PubMed", "id": "17355222", "url": "https://glygen.org/publication/PubMed/17355222" } ] }, { "title": "A second pedigree with autosomal dominant nemaline myopathy caused by TPM3 mutation: a clinical and pathological study.", "journal": "Neuromuscular disorders : NMD", "date": "2007", "authors": "Penisson-Besnier I, Monnier N, Toutain A, Dubas F, Laing N", "evidence": [ { "database": "UniProtKB", "id": "P06753", "url": "https://www.uniprot.org/uniprot/P06753" } ], "reference": [ { "type": "PubMed", "id": "17376686", "url": "https://glygen.org/publication/PubMed/17376686" } ] }, { "title": "NPM-ALK oncogenic kinase promotes cell-cycle progression through activation of JNK/cJun signaling in anaplastic large-cell lymphoma.", "journal": "Blood", "date": "2007", "authors": "Leventaki V, Drakos E, Medeiros LJ, Lim MS, Elenitoba-Johnson KS, Claret FX, Rassidakis GZ", "evidence": [ { "database": "Reactome", "id": "R-HSA-9725370", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9725370" } ], "reference": [ { "type": "PubMed", "id": "17416736", "url": "https://glygen.org/publication/PubMed/17416736" } ] }, { "title": "The tyrosine phosphatase Shp2 interacts with NPM-ALK and regulates anaplastic lymphoma cell growth and migration.", "journal": "Cancer research", "date": "2007", "authors": "Voena C, Conte C, Ambrogio C, Boeri Erba E, Boccalatte F, Mohammed S, Jensen ON, Palestro G, Inghirami G, Chiarle R", "evidence": [ { "database": "Reactome", "id": "R-HSA-9725370", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9725370" } ], "reference": [ { "type": "PubMed", "id": "17483340", "url": "https://glygen.org/publication/PubMed/17483340" } ] }, { "title": "Identification of the transforming EML4-ALK fusion gene in non-small-cell lung cancer.", "journal": "Nature", "date": "2007", "authors": "Soda M, Choi YL, Enomoto M, Takada S, Yamashita Y, Ishikawa S, Fujiwara S, Watanabe H, Kurashina K, Hatanaka H, Bando M, Ohno S, Ishikawa Y, Aburatani H, Niki T, Sohara Y, Sugiyama Y, Mano H", "evidence": [ { "database": "Reactome", "id": "R-HSA-9725370", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9725370" } ], "reference": [ { "type": "PubMed", "id": "17625570", "url": "https://glygen.org/publication/PubMed/17625570" } ] }, { "title": "The anaplastic lymphoma kinase in the pathogenesis of cancer.", "journal": "Nature reviews. Cancer", "date": "2008", "authors": "Chiarle R, Voena C, Ambrogio C, Piva R, Inghirami G", "evidence": [ { "database": "Reactome", "id": "R-HSA-9725370", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9725370" } ], "reference": [ { "type": "PubMed", "id": "18097461", "url": "https://glygen.org/publication/PubMed/18097461" } ] }, { "title": "Mutations in TPM3 are a common cause of congenital fiber type disproportion.", "journal": "Annals of neurology", "date": "2008", "authors": "Clarke NF, Kolski H, Dye DE, Lim E, Smith RL, Patel R, Fahey MC, Bellance R, Romero NB, Johnson ES, Labarre-Vila A, Monnier N, Laing NG, North KN", "evidence": [ { "database": "UniProtKB", "id": "P06753", "url": "https://www.uniprot.org/uniprot/P06753" } ], "reference": [ { "type": "PubMed", "id": "18300303", "url": "https://glygen.org/publication/PubMed/18300303" } ] }, { "title": "Identification of a founder mutation in TPM3 in nemaline myopathy patients of Turkish origin.", "journal": "Eur. J. Hum. Genet.", "date": "2008", "authors": "Lehtokari Vilma-Lotta, Pelin Katarina, Donner Kati, Voit Thomas, Rudnik-Sch\u00f6neborn Sabine, Stoetter Mechthild, Talim Beril, Topaloglu Haluk, Laing Nigel G, Wallgren-Pettersson Carina", "evidence": [ { "database": "UniProtKB", "id": "P06753", "url": "https://www.uniprot.org/uniprot/P06753" } ], "reference": [ { "type": "PubMed", "id": "18382475", "url": "https://glygen.org/publication/PubMed/18382475" } ] }, { "title": "Motif-specific sampling of phosphoproteomes.", "journal": "Journal of proteome research", "date": "2008", "authors": "Ruse CI, McClatchy DB, Lu B, Cociorva D, Motoyama A, Park SK, Yates JR 3rd", "evidence": [ { "database": "iPTMnet", "id": "P06753-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06753-1" } ], "reference": [ { "type": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" } ] }, { "title": "Regulation of growth factor signaling by FRS2 family docking/scaffold adaptor proteins.", "journal": "Cancer science", "date": "2008", "authors": "Gotoh N", "evidence": [ { "database": "Reactome", "id": "R-HSA-9725370", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9725370" } ], "reference": [ { "type": "PubMed", "id": "18452557", "url": "https://glygen.org/publication/PubMed/18452557" } ] }, { "title": "Identification of novel isoforms of the EML4-ALK transforming gene in non-small cell lung cancer.", "journal": "Cancer research", "date": "2008", "authors": "Choi YL, Takeuchi K, Soda M, Inamura K, Togashi Y, Hatano S, Enomoto M, Hamada T, Haruta H, Watanabe H, Kurashina K, Hatanaka H, Ueno T, Takada S, Yamashita Y, Sugiyama Y, Ishikawa Y, Mano H", "evidence": [ { "database": "Reactome", "id": "R-HSA-9725370", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9725370" } ], "reference": [ { "type": "PubMed", "id": "18593892", "url": "https://glygen.org/publication/PubMed/18593892" } ] }, { "title": "EML4-ALK fusion gene and efficacy of an ALK kinase inhibitor in lung cancer.", "journal": "Clinical cancer research : an official journal of the American Association for Cancer Research", "date": "2008", "authors": "Koivunen JP, Mermel C, Zejnullahu K, Murphy C, Lifshits E, Holmes AJ, Choi HG, Kim J, Chiang D, Thomas R, Lee J, Richards WG, Sugarbaker DJ, Ducko C, Lindeman N, Marcoux JP, Engelman JA, Gray NS, Lee C, Meyerson M, Janne PA", "evidence": [ { "database": "Reactome", "id": "R-HSA-9725370", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9725370" } ], "reference": [ { "type": "PubMed", "id": "18594010", "url": "https://glygen.org/publication/PubMed/18594010" } ] }, { "title": "An inflammatory myofibroblastic tumor in liver with ALK and RANBP2 gene rearrangement: combination of distinct morphologic, immunohistochemical, and genetic features.", "journal": "Human pathology", "date": "2008", "authors": "Chen ST, Lee JC", "evidence": [ { "database": "Reactome", "id": "R-HSA-9725370", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9725370" } ], "reference": [ { "type": "PubMed", "id": "18701132", "url": "https://glygen.org/publication/PubMed/18701132" } ] }, { "title": "Identification of ALK as a major familial neuroblastoma predisposition gene.", "journal": "Nature", "date": "2008", "authors": "Mosse YP, Laudenslager M, Longo L, Cole KA, Wood A, Attiyeh EF, Laquaglia MJ, Sennett R, Lynch JE, Perri P, Laureys G, Speleman F, Kim C, Hou C, Hakonarson H, Torkamani A, Schork NJ, Brodeur GM, Tonini GP, Rappaport E, Devoto M, Maris JM", "evidence": [ { "database": "Reactome", "id": "R-HSA-9725370", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9725370" } ], "reference": [ { "type": "PubMed", "id": "18724359", "url": "https://glygen.org/publication/PubMed/18724359" } ] }, { "title": "Somatic and germline activating mutations of the ALK kinase receptor in neuroblastoma.", "journal": "Nature", "date": "2008", "authors": "Janoueix-Lerosey I, Lequin D, Brugieres L, Ribeiro A, de Pontual L, Combaret V, Raynal V, Puisieux A, Schleiermacher G, Pierron G, Valteau-Couanet D, Frebourg T, Michon J, Lyonnet S, Amiel J, Delattre O", "evidence": [ { "database": "Reactome", "id": "R-HSA-9725370", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9725370" } ], "reference": [ { "type": "PubMed", "id": "18923523", "url": "https://glygen.org/publication/PubMed/18923523" } ] }, { "title": "Oncogenic mutations of ALK kinase in neuroblastoma.", "journal": "Nature", "date": "2008", "authors": "Chen Y, Takita J, Choi YL, Kato M, Ohira M, Sanada M, Wang L, Soda M, Kikuchi A, Igarashi T, Nakagawara A, Hayashi Y, Mano H, Ogawa S", "evidence": [ { "database": "Reactome", "id": "R-HSA-9725370", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9725370" } ], "reference": [ { "type": "PubMed", "id": "18923524", "url": "https://glygen.org/publication/PubMed/18923524" } ] }, { "title": "Activating mutations in ALK provide a therapeutic target in neuroblastoma.", "journal": "Nature", "date": "2008", "authors": "George RE, Sanda T, Hanna M, Frohling S, Luther W 2nd, Zhang J, Ahn Y, Zhou W, London WB, McGrady P, Xue L, Zozulya S, Gregor VE, Webb TR, Gray NS, Gilliland DG, Diller L, Greulich H, Morris SW, Meyerson M, Look AT", "evidence": [ { "database": "Reactome", "id": "R-HSA-9725370", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9725370" } ], "reference": [ { "type": "PubMed", "id": "18923525", "url": "https://glygen.org/publication/PubMed/18923525" } ] }, { "title": "Molecular pharmacology of human Cav3.2 T-type Ca2+ channels: block by antihypertensives, antiarrhythmics, and their analogs.", "journal": "The Journal of pharmacology and experimental therapeutics", "date": "2009", "authors": "Perez-Reyes E, Van Deusen AL, Vitko I", "evidence": [ { "database": "Reactome", "id": "R-HSA-445355", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-445355" } ], "reference": [ { "type": "PubMed", "id": "18974361", "url": "https://glygen.org/publication/PubMed/18974361" } ] }, { "title": "The molecular anatomy of caldesmon.", "journal": "The Biochemical journal", "date": "1991", "authors": "Marston SB, Redwood CS", "evidence": [ { "database": "Reactome", "id": "R-HSA-445355", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-445355" } ], "reference": [ { "type": "PubMed", "id": "1930128", "url": "https://glygen.org/publication/PubMed/1930128" } ] }, { "title": "Membrane repair defects in muscular dystrophy are linked to altered interaction between MG53, caveolin-3, and dysferlin.", "journal": "The Journal of biological chemistry", "date": "2009", "authors": "Cai C, Weisleder N, Ko JK, Komazaki S, Sunada Y, Nishi M, Takeshima H, Ma J", "evidence": [ { "database": "Reactome", "id": "R-HSA-445355", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-445355" } ], "reference": [ { "type": "PubMed", "id": "19380584", "url": "https://glygen.org/publication/PubMed/19380584" } ] }, { "title": "The FRS2 family of docking/scaffolding adaptor proteins as therapeutic targets of cancer treatment.", "journal": "Expert opinion on therapeutic targets", "date": "2009", "authors": "Sato T, Gotoh N", "evidence": [ { "database": "Reactome", "id": "R-HSA-9725370", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9725370" } ], "reference": [ { "type": "PubMed", "id": "19456272", "url": "https://glygen.org/publication/PubMed/19456272" } ] }, { "title": "Anaplastic lymphoma kinase: signalling in development and disease.", "journal": "The Biochemical journal", "date": "2009", "authors": "Palmer RH, Vernersson E, Grabbe C, Hallberg B", "evidence": [ { "database": "Reactome", "id": "R-HSA-9725370", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9725370" } ], "reference": [ { "type": "PubMed", "id": "19459784", "url": "https://glygen.org/publication/PubMed/19459784" } ] }, { "title": "TPM3 mutation in one of the original cases of cap disease.", "journal": "Neurology", "date": "2009", "authors": "Ohlsson M, Fidzianska A, Tajsharghi H, Oldfors A", "evidence": [ { "database": "UniProtKB", "id": "P06753", "url": "https://www.uniprot.org/uniprot/P06753" } ], "reference": [ { "type": "PubMed", "id": "19487656", "url": "https://glygen.org/publication/PubMed/19487656" } ] }, { "title": "A TPM3 mutation causing cap myopathy.", "journal": "Neuromuscular disorders : NMD", "date": "2009", "authors": "De Paula AM, Franques J, Fernandez C, Monnier N, Lunardi J, Pellissier JF, Figarella-Branger D, Pouget J", "evidence": [ { "database": "UniProtKB", "id": "P06753", "url": "https://www.uniprot.org/uniprot/P06753" } ], "reference": [ { "type": "PubMed", "id": "19553118", "url": "https://glygen.org/publication/PubMed/19553118" } ] }, { "title": "Lysine acetylation targets protein complexes and co-regulates major cellular functions.", "journal": "Science (New York, N.Y.)", "date": "2009", "authors": "Choudhary C, Kumar C, Gnad F, Nielsen ML, Rehman M, Walther TC, Olsen JV, Mann M", "evidence": [ { "database": "UniProtKB", "id": "P06753", "url": "https://www.uniprot.org/uniprot/P06753" } ], "reference": [ { "type": "PubMed", "id": "19608861", "url": "https://glygen.org/publication/PubMed/19608861" } ] }, { "title": "Phosphoproteomic analysis of human embryonic stem cells.", "journal": "Cell stem cell", "date": "2009", "authors": "Brill LM, Xiong W, Lee KB, Ficarro SB, Crain A, Xu Y, Terskikh A, Snyder EY, Ding S", "evidence": [ { "database": "iPTMnet", "id": "P06753-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06753-1" } ], "reference": [ { "type": "PubMed", "id": "19664994", "url": "https://glygen.org/publication/PubMed/19664994" } ] }, { "title": "Mutations of tropomyosin 3 (TPM3) are common and associated with type 1 myofiber hypotrophy in congenital fiber type disproportion.", "journal": "Human mutation", "date": "2010", "authors": "Lawlor MW, Dechene ET, Roumm E, Geggel AS, Moghadaszadeh B, Beggs AH", "evidence": [ { "database": "UniProtKB", "id": "P06753", "url": "https://www.uniprot.org/uniprot/P06753" } ], "reference": [ { "type": "PubMed", "id": "19953533", "url": "https://glygen.org/publication/PubMed/19953533" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "iPTMnet", "id": "P06753-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06753-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "title": "Structural basis for the recognition of nucleophosmin-anaplastic lymphoma kinase oncoprotein by the phosphotyrosine binding domain of Suc1-associated neurotrophic factor-induced tyrosine-phosphorylated target-2.", "journal": "Journal of structural and functional genomics", "date": "2010", "authors": "Koshiba S, Li H, Motoda Y, Tomizawa T, Kasai T, Tochio N, Yabuki T, Harada T, Watanabe S, Tanaka A, Shirouzu M, Kigawa T, Yamamoto T, Yokoyama S", "evidence": [ { "database": "Reactome", "id": "R-HSA-9725370", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9725370" } ], "reference": [ { "type": "PubMed", "id": "20454865", "url": "https://glygen.org/publication/PubMed/20454865" } ] }, { "title": "Congenital fibre type disproportion associated with mutations in the tropomyosin 3 (TPM3) gene mimicking congenital myasthenia.", "journal": "Neuromuscular disorders : NMD", "date": "2010", "authors": "Munot P, Lashley D, Jungbluth H, Feng L, Pitt M, Robb SA, Palace J, Jayawant S, Kennet R, Beeson D, Cullup T, Abbs S, Laing N, Sewry C, Muntoni F", "evidence": [ { "database": "UniProtKB", "id": "P06753", "url": "https://www.uniprot.org/uniprot/P06753" } ], "reference": [ { "type": "PubMed", "id": "20951040", "url": "https://glygen.org/publication/PubMed/20951040" } ] }, { "title": "Identification of a novel fusion, SQSTM1-ALK, in ALK-positive large B-cell lymphoma.", "journal": "Haematologica", "date": "2011", "authors": "Takeuchi K, Soda M, Togashi Y, Ota Y, Sekiguchi Y, Hatano S, Asaka R, Noguchi M, Mano H", "evidence": [ { "database": "Reactome", "id": "R-HSA-9725370", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9725370" } ], "reference": [ { "type": "PubMed", "id": "21134980", "url": "https://glygen.org/publication/PubMed/21134980" } ] }, { "title": "Epithelioid inflammatory myofibroblastic sarcoma: An aggressive intra-abdominal variant of inflammatory myofibroblastic tumor with nuclear membrane or perinuclear ALK.", "journal": "The American journal of surgical pathology", "date": "2011", "authors": "Marino-Enriquez A, Wang WL, Roy A, Lopez-Terrada D, Lazar AJ, Fletcher CD, Coffin CM, Hornick JL", "evidence": [ { "database": "Reactome", "id": "R-HSA-9725370", "url": 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"R-HSA-9725370", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9725370" } ], "reference": [ { "type": "PubMed", "id": "21838707", "url": "https://glygen.org/publication/PubMed/21838707" } ] }, { "title": "Identification of oncogenic point mutations and hyperphosphorylation of anaplastic lymphoma kinase in lung cancer.", "journal": "Neoplasia (New York, N.Y.)", "date": "2011", "authors": "Wang YW, Tu PH, Lin KT, Lin SC, Ko JY, Jou YS", "evidence": [ { "database": "Reactome", "id": "R-HSA-9725370", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9725370" } ], "reference": [ { "type": "PubMed", "id": "21847362", "url": "https://glygen.org/publication/PubMed/21847362" } ] }, { "title": "Aberrant activation of ALK kinase by a novel truncated form ALK protein in neuroblastoma.", "journal": "Oncogene", "date": "2012", "authors": "Okubo J, Takita J, Chen Y, Oki K, Nishimura R, Kato M, Sanada M, Hiwatari M, Hayashi Y, Igarashi T, Ogawa S", "evidence": [ { "database": "Reactome", 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is a novel effector of an atypical Rho family GTPase Chp/RhoV.", "journal": "Biochemistry. Biokhimiia", "date": "2012", "authors": "Shepelev MV, Korobko IV", "evidence": [ { "database": "Reactome", "id": "R-HSA-9013424", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013424" } ], "reference": [ { "type": "PubMed", "id": "22339630", "url": "https://glygen.org/publication/PubMed/22339630" } ] }, { "title": "KLC1-ALK: a novel fusion in lung cancer identified using a formalin-fixed paraffin-embedded tissue only.", "journal": "PloS one", "date": "2012", "authors": "Togashi Y, Soda M, Sakata S, Sugawara E, Hatano S, Asaka R, Nakajima T, Mano H, Takeuchi K", "evidence": [ { "database": "Reactome", "id": "R-HSA-9725370", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9725370" } ], "reference": [ { "type": "PubMed", "id": "22347464", "url": "https://glygen.org/publication/PubMed/22347464" } ] }, { "title": "In vivo imaging of molecular interactions at damaged sarcolemma.", "journal": "Developmental cell", "date": "2012", "authors": "Roostalu U, Strahle U", "evidence": [ { "database": "Reactome", "id": "R-HSA-445355", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-445355" } ], "reference": [ { "type": "PubMed", "id": "22421042", "url": "https://glygen.org/publication/PubMed/22421042" } ] }, { "title": "Identification of anaplastic lymphoma kinase as a potential therapeutic target in ovarian cancer.", "journal": "Cancer research", "date": "2012", "authors": "Ren H, Tan ZP, Zhu X, Crosby K, Haack H, Ren JM, Beausoleil S, Moritz A, Innocenti G, Rush J, Zhang Y, Zhou XM, Gu TL, Yang YF, Comb MJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-9725370", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9725370" } ], "reference": [ { "type": "PubMed", "id": "22570254", "url": "https://glygen.org/publication/PubMed/22570254" } ] }, { "title": "Fusion of dynactin 1 to anaplastic lymphoma kinase in inflammatory myofibroblastic tumor.", "journal": "Human pathology", "date": "2012", "authors": "Wang X, Krishnan C, Nguyen EP, Meyer KJ, Oliveira JL, Yang P, Yi ES, Erickson-Johnson MR, Yaszemski MJ, Maran A, Oliveira AM", "evidence": [ { "database": "Reactome", "id": "R-HSA-9725370", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9725370" } ], "reference": [ { "type": "PubMed", "id": "22658521", "url": "https://glygen.org/publication/PubMed/22658521" } ] }, { "title": "Cinaciguat, a soluble guanylate cyclase activator, unloads the heart but also causes hypotension in acute decompensated heart failure.", "journal": "European heart journal", "date": "2013", "authors": "Erdmann E, Semigran MJ, Nieminen MS, Gheorghiade M, Agrawal R, Mitrovic V, Mebazaa A", "evidence": [ { "database": "Reactome", "id": "R-HSA-445355", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-445355" } ], "reference": [ { "type": "PubMed", "id": "22778174", "url": "https://glygen.org/publication/PubMed/22778174" } ] }, { "title": "Cell culture and Drosophila model systems define three classes of anaplastic lymphoma kinase mutations in neuroblastoma.", "journal": "Disease models & mechanisms", "date": "2013", "authors": "Chand D, Yamazaki Y, Ruuth K, Schonherr C, Martinsson T, Kogner P, Attiyeh EF, Maris J, Morozova O, Marra MA, Ohira M, Nakagawara A, Sandstrom PE, Palmer RH, Hallberg B", "evidence": [ { "database": "Reactome", "id": "R-HSA-9725370", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9725370" } ], "reference": [ { "type": "PubMed", "id": "23104988", "url": "https://glygen.org/publication/PubMed/23104988" } ] }, { "title": "Characterization of rearrangements involving the ALK gene reveals a novel truncated form associated with tumor aggressiveness in neuroblastoma.", "journal": "Cancer research", "date": "2013", "authors": "Cazes A, Louis-Brennetot C, Mazot P, Dingli F, Lombard B, Boeva V, Daveau R, Cappo J, Combaret V, Schleiermacher G, Jouannet S, Ferrand S, Pierron G, Barillot E, Loew D, Vigny M, Delattre O, Janoueix-Lerosey I", "evidence": [ { "database": "Reactome", "id": "R-HSA-9725370", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9725370" } ], "reference": [ { "type": "PubMed", "id": "23139213", "url": "https://glygen.org/publication/PubMed/23139213" } ] }, { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "P06753", "url": "https://www.uniprot.org/uniprot/P06753" }, { "database": "iPTMnet", "id": "P06753", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06753" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "Anaplastic lymphoma kinase (ALK): structure, oncogenic activation, and pharmacological inhibition.", "journal": "Pharmacological research", "date": "2013", "authors": "Roskoski R Jr", "evidence": [ { "database": "Reactome", "id": "R-HSA-9725370", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9725370" } ], "reference": [ { "type": "PubMed", "id": "23201355", "url": "https://glygen.org/publication/PubMed/23201355" } ] }, { "title": "Crizotinib-resistant NPM-ALK mutants confer differential sensitivity to unrelated Alk inhibitors.", "journal": "Molecular cancer research : MCR", "date": "2013", "authors": "Ceccon M, Mologni L, Bisson W, Scapozza L, Gambacorti-Passerini C", "evidence": [ { "database": "Reactome", "id": "R-HSA-9725370", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9725370" } ], "reference": [ { "type": "PubMed", "id": "23239810", "url": "https://glygen.org/publication/PubMed/23239810" } ] }, { "title": "Identification of recurrent FGFR3 fusion genes in lung cancer through kinome-centred RNA sequencing.", "journal": "The Journal of pathology", "date": "2013", "authors": "Majewski IJ, Mittempergher L, Davidson NM, Bosma A, Willems SM, Horlings HM, de Rink I, Greger L, Hooijer GK, Peters D, Nederlof PM, Hofland I, de Jong J, Wesseling J, Kluin RJ, Brugman W, Kerkhoven R, Nieboer F, Roepman P, Broeks A, Muley TR, Jassem J, Niklinski J, van Zandwijk N, Brazma A, Oshlack A, van den Heuvel M, Bernards R", "evidence": [ { "database": "Reactome", "id": "R-HSA-9725370", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9725370" } ], "reference": [ { "type": "PubMed", "id": "23661334", "url": "https://glygen.org/publication/PubMed/23661334" } ] }, { "title": "Low threshold T-type calcium channels as targets for novel epilepsy treatments.", "journal": "British journal of clinical pharmacology", "date": "2014", "authors": "Powell KL, Cain SM, Snutch TP, O'Brien TJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-445355", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-445355" } ], "reference": [ { "type": "PubMed", "id": "23834404", "url": "https://glygen.org/publication/PubMed/23834404" } ] }, { "title": "Inflammatory myofibroblastic tumour of the lung with a novel PPFIBP1-ALK fusion variant.", "journal": "Histopathology", "date": "2013", "authors": "Yoshida A, Shibata T, Tsuta K, Watanabe S, Tsuda H", "evidence": [ { "database": "Reactome", "id": "R-HSA-9725370", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9725370" } ], "reference": [ { "type": "PubMed", "id": "23957430", "url": "https://glygen.org/publication/PubMed/23957430" } ] }, { "title": "Mechanistic insight into ALK receptor tyrosine kinase in human cancer biology.", "journal": "Nature reviews. Cancer", "date": "2013", "authors": "Hallberg B, Palmer RH", "evidence": [ { "database": "Reactome", "id": "R-HSA-9725370", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9725370" } ], "reference": [ { "type": "PubMed", "id": "24060861", "url": "https://glygen.org/publication/PubMed/24060861" } ] }, { "title": "Novel TPM3 mutation in a family with cap myopathy and review of the literature.", "journal": "Neuromuscular disorders : NMD", "date": "2014", "authors": "Schreckenbach T, Schroder JM, Voit T, Abicht A, Neuen-Jacob E, Roos A, Bulst S, Kuhl C, Schulz JB, Weis J, Claeys KG", "evidence": [ { "database": "UniProtKB", "id": "P06753", "url": "https://www.uniprot.org/uniprot/P06753" } ], "reference": [ { "type": "PubMed", "id": "24239060", "url": "https://glygen.org/publication/PubMed/24239060" } ] }, { "title": "Kinase fusions are frequent in Spitz tumours and spitzoid melanomas.", "journal": "Nature communications", "date": "2014", "authors": "Wiesner T, He J, Yelensky R, Esteve-Puig R, Botton T, Yeh I, Lipson D, Otto G, Brennan K, Murali R, Garrido M, Miller VA, Ross JS, Berger MF, Sparatta A, Palmedo G, Cerroni L, Busam KJ, Kutzner H, Cronin MT, Stephens PJ, Bastian BC", "evidence": [ { "database": "Reactome", "id": "R-HSA-9725370", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9725370" } ], "reference": [ { "type": "PubMed", "id": "24445538", "url": "https://glygen.org/publication/PubMed/24445538" } ] }, { "title": "Identification of a recurrent STRN/ALK fusion in thyroid carcinomas.", "journal": "PloS one", "date": "2014", "authors": "Perot G, Soubeyran I, Ribeiro A, Bonhomme B, Savagner F, Boutet-Bouzamondo N, Hostein I, Bonichon F, Godbert Y, Chibon F", "evidence": [ { "database": "Reactome", "id": "R-HSA-9725370", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9725370" } ], "reference": [ { "type": "PubMed", "id": "24475247", "url": "https://glygen.org/publication/PubMed/24475247" } ] }, { "title": "HIP1-ALK, a novel ALK fusion variant that responds to crizotinib.", "journal": "Journal of thoracic oncology : official publication of the International Association for the Study of Lung Cancer", "date": "2014", "authors": "Fang DD, Zhang B, Gu Q, Lira M, Xu Q, Sun H, Qian M, Sheng W, Ozeck M, Wang Z, Zhang C, Chen X, Chen KX, Li J, Chen SH, Christensen J, Mao M, Chan CC", "evidence": [ { "database": "Reactome", "id": "R-HSA-9725370", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9725370" } ], "reference": [ { "type": "PubMed", "id": "24496003", "url": "https://glygen.org/publication/PubMed/24496003" } ] }, { "title": "HIP1-ALK, a novel fusion protein identified in lung adenocarcinoma.", "journal": "Journal of thoracic oncology : official publication of the International Association for the Study of Lung Cancer", "date": "2014", "authors": "Hong M, Kim RN, Song JY, Choi SJ, Oh E, Lira ME, Mao M, Takeuchi K, Han J, Kim J, Choi YL", "evidence": [ { "database": "Reactome", "id": "R-HSA-9725370", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9725370" } ], "reference": [ { "type": "PubMed", "id": "24518094", "url": "https://glygen.org/publication/PubMed/24518094" } ] }, { "title": "Identification of the transforming STRN-ALK fusion as a potential therapeutic target in the aggressive forms of thyroid cancer.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2014", "authors": "Kelly LM, Barila G, Liu P, Evdokimova VN, Trivedi S, Panebianco F, Gandhi M, Carty SE, Hodak SP, Luo J, Dacic S, Yu YP, Nikiforova MN, Ferris RL, Altschuler DL, Nikiforov YE", "evidence": [ { "database": "Reactome", "id": "R-HSA-9725370", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9725370" } ], "reference": [ { "type": "PubMed", "id": "24613930", "url": "https://glygen.org/publication/PubMed/24613930" } ] }, { "title": "Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies.", "journal": "Human mutation", "date": "2014", "authors": "Marttila M, Lehtokari VL, Marston S, Nyman TA, Barnerias C, Beggs AH, Bertini E, Ceyhan-Birsoy O, Cintas P, Gerard M, Gilbert-Dussardier B, Hogue JS, Longman C, Eymard B, Frydman M, Kang PB, Klinge L, Kolski H, Lochmuller H, Magy L, Manel V, Mayer M, Mercuri E, North KN, Peudenier-Robert S, Pihko H, Probst FJ, Reisin R, Stewart W, Taratuto AL, de Visser M, Wilichowski E, Winer J, Nowak K, Laing NG, Winder TL, Monnier N, Clarke NF, Pelin K, Gronholm M, Wallgren-Pettersson C", "evidence": [ { "database": "UniProtKB", "id": "P06753", "url": "https://www.uniprot.org/uniprot/P06753" } ], "reference": [ { "type": "PubMed", "id": "24692096", "url": "https://glygen.org/publication/PubMed/24692096" } ] }, { "title": "A novel fusion of TPR and ALK in lung adenocarcinoma.", "journal": "Journal of thoracic oncology : official publication of the International Association for the Study of Lung Cancer", "date": "2014", "authors": "Choi YL, Lira ME, Hong M, Kim RN, Choi SJ, Song JY, Pandy K, Mann DL, Stahl JA, Peckham HE, Zheng Z, Han J, Mao M, Kim J", "evidence": [ { "database": "Reactome", "id": "R-HSA-9725370", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9725370" } ], "reference": [ { "type": "PubMed", "id": "24736082", "url": "https://glygen.org/publication/PubMed/24736082" } ] }, { "title": "Calcium channel blockers in cardiovascular pharmacotherapy.", "journal": "Journal of cardiovascular pharmacology and therapeutics", "date": "2014", "authors": "Godfraind T", "evidence": [ { "database": "Reactome", "id": "R-HSA-445355", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-445355" } ], "reference": [ { "type": "PubMed", "id": "24872348", "url": "https://glygen.org/publication/PubMed/24872348" } ] }, { "title": "Characterization and differential expression of human vascular smooth muscle myosin light chain 2 isoform in nonmuscle cells.", "journal": "Biochemistry", "date": "1989", "authors": "Kumar CC, Mohan SR, Zavodny PJ, Narula SK, Leibowitz PJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-445355", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-445355" } ], "reference": [ { "type": "PubMed", "id": "2526655", "url": "https://glygen.org/publication/PubMed/2526655" } ] }, { "title": "Revisiting STAT3 signalling in cancer: new and unexpected biological functions.", "journal": "Nature reviews. Cancer", "date": "2014", "authors": "Yu H, Lee H, Herrmann A, Buettner R, Jove R", "evidence": [ { "database": "Reactome", "id": "R-HSA-9725370", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9725370" } ], "reference": [ { "type": "PubMed", "id": "25342631", "url": "https://glygen.org/publication/PubMed/25342631" } ] }, { "title": "Identification of a novel HIP1-ALK fusion variant in Non-Small-Cell Lung Cancer (NSCLC) and discovery of ALK I1171 (I1171N/S) mutations in two ALK-rearranged NSCLC patients with resistance to Alectinib.", "journal": "Journal of thoracic oncology : official publication of the International Association for the Study of Lung Cancer", "date": "2014", "authors": "Ou SH, Klempner SJ, Greenbowe JR, Azada M, Schrock AB, Ali SM, Ross JS, Stephens PJ, Miller VA", "evidence": [ { "database": "Reactome", "id": "R-HSA-9725370", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9725370" } ], "reference": [ { "type": "PubMed", "id": "25393796", "url": "https://glygen.org/publication/PubMed/25393796" } ] }, { "title": "Treatment Efficacy and Resistance Mechanisms Using the Second-Generation ALK Inhibitor AP26113 in Human NPM-ALK-Positive Anaplastic Large Cell Lymphoma.", "journal": "Molecular cancer research : MCR", "date": "2015", "authors": "Ceccon M, Mologni L, Giudici G, Piazza R, Pirola A, Fontana D, Gambacorti-Passerini C", "evidence": [ { "database": "Reactome", "id": "R-HSA-9725370", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9725370" } ], "reference": [ { "type": "PubMed", "id": "25421750", "url": "https://glygen.org/publication/PubMed/25421750" } ] }, { "title": "Novel ALK fusion partners in lung cancer.", "journal": "Cancer letters", "date": "2015", "authors": "Iyevleva AG, Raskin GA, Tiurin VI, Sokolenko AP, Mitiushkina NV, Aleksakhina SN, Garifullina AR, Strelkova TN, Merkulov VO, Ivantsov AO, Kuligina ESh, Pozharisski KM, Togo AV, Imyanitov EN", "evidence": [ { "database": "Reactome", "id": "R-HSA-9725370", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9725370" } ], "reference": [ { "type": "PubMed", "id": "25813404", "url": "https://glygen.org/publication/PubMed/25813404" } ] }, { "title": "BIRC6-ALK, a Novel Fusion Gene in ALK Break-Apart FISH-Negative Lung Adenocarcinoma, Responds to Crizotinib.", "journal": "Journal of thoracic oncology : official publication of the International Association for the Study of Lung Cancer", "date": "2015", "authors": "Shan L, Jiang P, Xu F, Zhang W, Guo L, Wu J, Zeng Y, Jiao Y, Ying J", "evidence": [ { "database": "Reactome", "id": "R-HSA-9725370", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9725370" } ], "reference": [ { "type": "PubMed", "id": "26001147", "url": "https://glygen.org/publication/PubMed/26001147" } ] }, { "title": "STUMP un`stumped`: anti-tumor response to anaplastic lymphoma kinase (ALK) inhibitor based targeted therapy in uterine inflammatory myofibroblastic tumor with myxoid features harboring DCTN1-ALK fusion.", "journal": "Journal of hematology & oncology", "date": "2015", "authors": "Subbiah V, McMahon C, Patel S, Zinner R, Silva EG, Elvin JA, Subbiah IM, Ohaji C, Ganeshan DM, Anand D, Levenback CF, Berry J, Brennan T, Chmielecki J, Chalmers ZR, Mayfield J, Miller VA, Stephens PJ, Ross JS, Ali SM", "evidence": [ { "database": "Reactome", "id": "R-HSA-9725370", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9725370" } ], "reference": [ { "type": "PubMed", "id": "26062823", "url": "https://glygen.org/publication/PubMed/26062823" } ] }, { "title": "RAS-MAPK dependence underlies a rational polytherapy strategy in EML4-ALK-positive lung cancer.", "journal": "Nature medicine", "date": "2015", "authors": "Hrustanovic G, Olivas V, Pazarentzos E, Tulpule A, Asthana S, Blakely CM, Okimoto RA, Lin L, Neel DS, Sabnis A, Flanagan J, Chan E, Varella-Garcia M, Aisner DL, Vaishnavi A, Ou SH, Collisson EA, Ichihara E, Mack PC, Lovly CM, Karachaliou N, Rosell R, Riess JW, Doebele RC, Bivona TG", "evidence": [ { "database": "Reactome", "id": "R-HSA-9725370", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9725370" } ], "reference": [ { "type": "PubMed", "id": "26301689", "url": "https://glygen.org/publication/PubMed/26301689" } ] }, { "title": "The Physiology, Pathology, and Pharmacology of Voltage-Gated Calcium Channels and Their Future Therapeutic Potential.", "journal": "Pharmacological reviews", "date": "2015", "authors": "Zamponi GW, Striessnig J, Koschak A, Dolphin AC", "evidence": [ { "database": "Reactome", "id": "R-HSA-445355", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-445355" } ], "reference": [ { "type": "PubMed", "id": "26362469", "url": "https://glygen.org/publication/PubMed/26362469" } ] }, { "title": "Comprehensive Genomic Profiling Identifies a Subset of Crizotinib-Responsive ALK-Rearranged Non-Small Cell Lung Cancer Not Detected by Fluorescence In Situ Hybridization.", "journal": "The oncologist", "date": "2016", "authors": "Ali SM, Hensing T, Schrock AB, Allen J, Sanford E, Gowen K, Kulkarni A, He J, Suh JH, Lipson D, Elvin JA, Yelensky R, Chalmers Z, Chmielecki J, Peled N, Klempner SJ, Firozvi K, Frampton GM, Molina JR, Menon S, Brahmer JR, MacMahon H, Nowak J, Ou SH, Zauderer M, Ladanyi M, Zakowski M, Fischbach N, Ross JS, Stephens PJ, Miller VA, Wakelee H, Ganesan S, Salgia R", "evidence": [ { "database": "Reactome", "id": "R-HSA-9725370", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9725370" } ], "reference": [ { "type": "PubMed", "id": "27245569", "url": "https://glygen.org/publication/PubMed/27245569" } ] }, { "title": "The role of the ALK receptor in cancer biology.", "journal": "Annals of oncology : official journal of the European Society for Medical Oncology", "date": "2016", "authors": "Hallberg B, Palmer RH", "evidence": [ { "database": "Reactome", "id": "R-HSA-9725370", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9725370" } ], "reference": [ { "type": "PubMed", "id": "27573755", "url": "https://glygen.org/publication/PubMed/27573755" } ] }, { "title": "The distribution of heavy-chain isoforms of myosin in airways smooth muscle from adult and neonate humans.", "journal": "The Biochemical journal", "date": "1989", "authors": "Mohammad MA, Sparrow MP", "evidence": [ { "database": "Reactome", "id": "R-HSA-445355", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-445355" } ], "reference": [ { "type": "PubMed", "id": "2764880", "url": "https://glygen.org/publication/PubMed/2764880" } ] }, { "title": "Formation of Nitric Oxide by Aldehyde Dehydrogenase-2 Is Necessary and Sufficient for Vascular Bioactivation of Nitroglycerin.", "journal": "The Journal of biological chemistry", "date": "2016", "authors": "Opelt M, Eroglu E, Waldeck-Weiermair M, Russwurm M, Koesling D, Malli R, Graier WF, Fassett JT, Schrammel A, Mayer B", "evidence": [ { "database": "Reactome", "id": "R-HSA-445355", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-445355" } ], "reference": [ { "type": "PubMed", "id": "27679490", "url": "https://glygen.org/publication/PubMed/27679490" } ] }, { "title": "ALK oncoproteins in atypical inflammatory myofibroblastic tumours: novel RRBP1-ALK fusions in epithelioid inflammatory myofibroblastic sarcoma.", "journal": "The Journal of pathology", "date": "2017", "authors": "Lee JC, Li CF, Huang HY, Zhu MJ, Marino-Enriquez A, Lee CT, Ou WB, Hornick JL, Fletcher JA", "evidence": [ { "database": "Reactome", "id": "R-HSA-9725370", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9725370" } ], "reference": [ { "type": "PubMed", "id": "27874193", "url": "https://glygen.org/publication/PubMed/27874193" } ] }, { "title": "Identification of a novel crizotinib-sensitive BCL11A-ALK gene fusion in a nonsmall cell lung cancer patient.", "journal": "The European respiratory journal", "date": "2017", "authors": "Tian Q, Deng WJ, Li ZW", "evidence": [ { "database": "Reactome", "id": "R-HSA-9725370", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9725370" } ], "reference": [ { "type": "PubMed", "id": "28404650", "url": "https://glygen.org/publication/PubMed/28404650" } ] }, { "title": "Synthesis of a Highly Azide-Reactive and Thermosensitive Biofunctional Reagent for Efficient Enrichment and Large-Scale Identification of O-GlcNAc Proteins by Mass Spectrometry.", "journal": "Analytical chemistry", "date": "2017", "authors": "Zhang W, Liu T, Dong H, Bai H, Tian F, Shi Z, Chen M, Wang J, Qin W, Qian X", "evidence": [ { "database": "O-GlcNAc Database", "id": "P06753", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P06753" } ], "reference": [ { "type": "PubMed", "id": "28510447", "url": "https://glygen.org/publication/PubMed/28510447" } ] }, { "title": "Anaplastic lymphoma kinase-positive anaplastic large cell lymphoma with the variant RNF213-, ATIC- and TPM3-ALK fusions is characterized by copy number gain of the rearranged ALK gene.", "journal": "Haematologica", "date": "2017", "authors": "van der Krogt JA, Bempt MV, Ferreiro JF, Mentens N, Jacobs K, Pluys U, Doms K, Geerdens E, Uyttebroeck A, Pierre P, Michaux L, Devos T, Vandenberghe P, Tousseyn T, Cools J, Wlodarska I", "evidence": [ { "database": "Reactome", "id": "R-HSA-9725370", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9725370" } ], "reference": [ { "type": "PubMed", "id": "28659337", "url": "https://glygen.org/publication/PubMed/28659337" } ] }, { "title": "A human oncogene formed by the fusion of truncated tropomyosin and protein tyrosine kinase sequences.", "journal": "Nature", "date": "1986", "authors": "Martin-Zanca D, Hughes S H, Barbacid M", "evidence": [ { "database": "UniProtKB", "id": "P06753", "url": "https://www.uniprot.org/uniprot/P06753" } ], "reference": [ { "type": "PubMed", "id": "2869410", "url": "https://glygen.org/publication/PubMed/2869410" } ] }, { "title": "Direct comparison of tadalafil with sildenafil for the treatment of erectile dysfunction: a systematic review and meta-analysis.", "journal": "International urology and nephrology", "date": "2017", "authors": "Gong B, Ma M, Xie W, Yang X, Huang Y, Sun T, Luo Y, Huang J", "evidence": [ { "database": "Reactome", "id": "R-HSA-445355", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-445355" } ], "reference": [ { "type": "PubMed", "id": "28741090", "url": "https://glygen.org/publication/PubMed/28741090" } ] }, { "title": "Molecular breakdown: a comprehensive view of anaplastic lymphoma kinase (ALK)-rearranged non-small cell lung cancer.", "journal": "The Journal of pathology", "date": "2017", "authors": "Noh KW, Lee MS, Lee SE, Song JY, Shin HT, Kim YJ, Oh DY, Jung K, Sung M, Kim M, An S, Han J, Shim YM, Zo JI, Kim J, Park WY, Lee SH, Choi YL", "evidence": [ { "database": "Reactome", "id": "R-HSA-9725370", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9725370" } ], "reference": [ { "type": "PubMed", "id": "28741662", "url": "https://glygen.org/publication/PubMed/28741662" } ] }, { "title": "Role and targeting of anaplastic lymphoma kinase in cancer.", "journal": "Molecular cancer", "date": "2018", "authors": "Della Corte CM, Viscardi G, Di Liello R, Fasano M, Martinelli E, Troiani T, Ciardiello F, Morgillo F", "evidence": [ { "database": "Reactome", "id": "R-HSA-9725370", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9725370" } ], "reference": [ { "type": "PubMed", "id": "29455642", "url": "https://glygen.org/publication/PubMed/29455642" } ] }, { "title": "STAT3: a multifaceted oncoprotein.", "journal": "Growth factors (Chur, Switzerland)", "date": "2018", "authors": "Guanizo AC, Fernando CD, Garama DJ, Gough DJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-9725370", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9725370" } ], "reference": [ { "type": "PubMed", "id": "29873274", "url": "https://glygen.org/publication/PubMed/29873274" } ] }, { "title": "Dependency on the TYK2/STAT1/MCL1 axis in anaplastic large cell lymphoma.", "journal": "Leukemia", "date": "2019", "authors": "Prutsch N, Gurnhofer E, Suske T, Liang HC, Schlederer M, Roos S, Wu LC, Simonitsch-Klupp I, Alvarez-Hernandez A, Kornauth C, Leone DA, Svinka J, Eferl R, Limberger T, Aufinger A, Shirsath N, Wolf P, Hielscher T, Aberger F, Schmoellerl J, Stoiber D, Strobl B, Jager U, Staber PB, Grebien F, Moriggl R, Muller M, Inghirami GG, Sanda T, Look AT, Turner SD, Kenner L, Merkel O", "evidence": [ { "database": "Reactome", "id": "R-HSA-9725370", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9725370" } ], "reference": [ { "type": "PubMed", "id": "30131584", "url": "https://glygen.org/publication/PubMed/30131584" } ] }, { "title": "Tissue-specific expression of the human tropomyosin gene involved in the generation of the trk oncogene.", "journal": "Nature", "date": "1986", "authors": "Reinach F C, MacLeod A R", "evidence": [ { "database": "UniProtKB", "id": "P06753", "url": "https://www.uniprot.org/uniprot/P06753" } ], "reference": [ { "type": "PubMed", "id": "3018581", "url": "https://glygen.org/publication/PubMed/3018581" } ] }, { "title": "The mRNA and RNA-copy pseudogenes encoding TM30nm, a human cytoskeletal tropomyosin.", "journal": "Nucleic Acids Res.", "date": "1986", "authors": "MacLeod AR, Houlker C, Reinach FC, Talbot K", "evidence": [ { "database": "UniProtKB", "id": "P06753", "url": "https://www.uniprot.org/uniprot/P06753" } ], "reference": [ { "type": "PubMed", "id": "3024106", "url": "https://glygen.org/publication/PubMed/3024106" } ] }, { "title": "Combinatorial regulation of hepatic cytoplasmic signaling and nuclear transcriptional events by the OGT/REV-ERBalpha complex.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2018", "authors": "Berthier A, Vinod M, Porez G, Steenackers A, Alexandre J, Yamakawa N, Gheeraert C, Ploton M, Marechal X, Dubois-Chevalier J, Hovasse A, Schaeffer-Reiss C, Cianferani S, Rolando C, Bray F, Duez H, Eeckhoute J, Lefebvre T, Staels B, Lefebvre P", "evidence": [ { "database": "O-GlcNAc Database", "id": "P06753", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P06753" } ], "reference": [ { "type": "PubMed", "id": "30397120", "url": "https://glygen.org/publication/PubMed/30397120" } ] }, { "title": "The Transcriptional Regulator Sin3A Contributes to the Oncogenic Potential of STAT3.", "journal": "Cancer research", "date": "2019", "authors": "Gambi G, Di Simone E, Basso V, Ricci L, Wang R, Verma A, Elemento O, Ponzoni M, Inghirami G, Icardi L, Mondino A", "evidence": [ { "database": "Reactome", "id": "R-HSA-9725370", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9725370" } ], "reference": [ { "type": "PubMed", "id": "30692217", "url": "https://glygen.org/publication/PubMed/30692217" } ] }, { "title": "The Transcriptional Roles of ALK Fusion Proteins in Tumorigenesis.", "journal": "Cancers", "date": "2019", "authors": "Ducray SP, Natarajan K, Garland GD, Turner SD, Egger G", "evidence": [ { "database": "Reactome", "id": "R-HSA-9725370", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9725370" } ], "reference": [ { "type": "PubMed", "id": "31366041", "url": "https://glygen.org/publication/PubMed/31366041" } ] }, { "title": "Mapping the proximity interaction network of the Rho-family GTPases reveals signalling pathways and regulatory mechanisms.", "journal": "Nature cell biology", "date": "2020", "authors": "Bagci H, Sriskandarajah N, Robert A, Boulais J, Elkholi IE, Tran V, Lin ZY, Thibault MP, Dube N, Faubert D, Hipfner DR, Gingras AC, Cote JF", "evidence": [ { "database": "Reactome", "id": "R-HSA-9013424", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013424" } ], "reference": [ { "type": "PubMed", "id": "31871319", "url": "https://glygen.org/publication/PubMed/31871319" } ] }, { "title": "Tandem Bioorthogonal Labeling Uncovers Endogenous Cotranslationally O-GlcNAc Modified Nascent Proteins.", "journal": "Journal of the American Chemical Society", "date": "2020", "authors": "Zhu Y, Willems LI, Salas D, Cecioni S, Wu WB, Foster LJ, Vocadlo DJ", "evidence": [ { "database": "O-GlcNAc Database", "id": "P06753", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P06753" } ], "reference": [ { "type": "PubMed", "id": "32870666", "url": "https://glygen.org/publication/PubMed/32870666" } ] }, { "title": "Inorganic Phosphate (Pi) Signaling in Endothelial Cells: A Molecular Basis for Generation of Endothelial Microvesicles in Uraemic Cardiovascular Disease.", "journal": "International journal of molecular sciences", "date": "2020-09-23", "authors": "Abbasian Nima, Bevington Alan, Burton James O, Herbert Karl E, Goodall Alison H, Brunskill Nigel J", "evidence": [ { "database": "iPTMnet", "id": "P06753", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06753" } ], "reference": [ { "type": "PubMed", "id": "32977471", "url": "https://glygen.org/publication/PubMed/32977471" } ] }, { "title": "Proteomic profiling and genome-wide mapping of O-GlcNAc chromatin-associated proteins reveal an O-GlcNAc-regulated genotoxic stress response.", "journal": "Nature communications", "date": "2020", "authors": "Liu Y, Chen Q, Zhang N, Zhang K, Dou T, Cao Y, Liu Y, Li K, Hao X, Xie X, Li W, Ren Y, Zhang J", "evidence": [ { "database": "O-GlcNAc Database", "id": "P06753", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P06753" } ], "reference": [ { "type": "PubMed", "id": "33214551", "url": "https://glygen.org/publication/PubMed/33214551" } ] }, { "title": "O-GlcNAc modification regulates MTA1 transcriptional activity during breast cancer cell genotoxic adaptation.", "journal": "Biochimica et biophysica acta. General subjects", "date": "2021", "authors": "Xie X, Wu Q, Zhang K, Liu Y, Zhang N, Chen Q, Wang L, Li W, Zhang J, Liu Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "P06753", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P06753" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "Organization of the hTMnm gene. Implications for the evolution of muscle and non-muscle tropomyosins.", "journal": "J. Mol. Biol.", "date": "1988", "authors": "Clayton L, Reinach F C, Chumbley G M, MacLeod A R", "evidence": [ { "database": "UniProtKB", "id": "P06753", "url": "https://www.uniprot.org/uniprot/P06753" } ], "reference": [ { "type": "PubMed", "id": "3418707", "url": "https://glygen.org/publication/PubMed/3418707" } ] }, { "title": "Synthesis of Na2S2O4 mediated cleavable affinity tag for labeling of O-GlcNAc modified proteins via azide-alkyne cycloaddition.", "journal": "Bioorganic & medicinal chemistry letters", "date": "2021", "authors": "Wang J, Dou B, Zheng L, Cao W, Zeng X, Wen Y, Ma J, Li X", "evidence": [ { "database": "O-GlcNAc Database", "id": "P06753", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P06753" } ], "reference": [ { "type": "PubMed", "id": "34229054", "url": "https://glygen.org/publication/PubMed/34229054" } ] }, { "title": "Comparative O-GlcNAc Proteomic Analysis Reveals a Role of O-GlcNAcylated SAM68 in Lung Cancer Aggressiveness.", "journal": "Cancers", "date": "2022", "authors": "Lin CH, Liao CC, Wang SY, Peng CY, Yeh YC, Chen MY, Chou TY", "evidence": [ { "database": "O-GlcNAc Database", "id": "P06753", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P06753" } ], "reference": [ { "type": "PubMed", "id": "35008409", "url": "https://glygen.org/publication/PubMed/35008409" } ] }, { "title": "O-GlcNAcylation promotes fatty acid synthase activity under nutritional stress as a pro-survival mechanism in cancer cells.", "journal": "Proteomics", "date": "2022", "authors": "Wong YK, Wang J, Lim TK, Lin Q, Yap CT, Shen HM", "evidence": [ { "database": "O-GlcNAc Database", "id": "P06753", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P06753" } ], "reference": [ { "type": "PubMed", "id": "35083852", "url": "https://glygen.org/publication/PubMed/35083852" } ] }, { "title": "Autosomal dominantly inherited myopathy likely caused by the TNNT1 variant p.(Asp65Ala).", "journal": "Hum. Mutat.", "date": "2022", "authors": "Holling Tess, Lisfeld Jasmin, Johannsen Jessika, Matschke Jakob, Song Feizhi, Altmeppen Hermann Clemens, Kutsche Kerstin", "evidence": [ { "database": "UniProtKB", "id": "P06753", "url": "https://www.uniprot.org/uniprot/P06753" } ], "reference": [ { "type": "PubMed", "id": "35510366", "url": "https://glygen.org/publication/PubMed/35510366" } ] }, { "title": "Extracellular arginine availability modulates eIF2\u03b1 O-GlcNAcylation and heme oxygenase 1 translation for cellular homeostasis.", "journal": "Journal of biomedical science", "date": "2023-05-22", "authors": "Hung Yu-Wen, Ouyang Ching, Ping Xiaoli, Qi Yue, Wang Yi-Chang, Kung Hsing-Jien, Ann David K", "evidence": [ { "database": "O-GlcNAc Database", "id": "P06753", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P06753" } ], "reference": [ { "type": "PubMed", "id": "37217939", "url": "https://glygen.org/publication/PubMed/37217939" } ] }, { "title": "Isoforms of myosin and actin in human, monkey and rat myometrium. 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Biophys. Res. Commun.", "date": "1994", "authors": "Sung L A, Lin J J", "evidence": [ { "database": "UniProtKB", "id": "P06753", "url": "https://www.uniprot.org/uniprot/P06753" } ], "reference": [ { "type": "PubMed", "id": "8002995", "url": "https://glygen.org/publication/PubMed/8002995" } ] }, { "title": "Characterization of the transforming activity of p80, a hyperphosphorylated protein in a Ki-1 lymphoma cell line with chromosomal translocation t(2;5).", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1996", "authors": "Fujimoto J, Shiota M, Iwahara T, Seki N, Satoh H, Mori S, Yamamoto T", "evidence": [ { "database": "Reactome", "id": "R-HSA-9725370", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9725370" } ], "reference": [ { "type": "PubMed", "id": "8633037", "url": "https://glygen.org/publication/PubMed/8633037" } ] }, { "title": "Sildenafil: an orally active type 5 cyclic GMP-specific phosphodiesterase inhibitor for the treatment of penile erectile dysfunction.", "journal": "International journal of impotence research", "date": "1996", "authors": "Boolell M, Allen MJ, Ballard SA, Gepi-Attee S, Muirhead GJ, Naylor AM, Osterloh IH, Gingell C", "evidence": [ { "database": "Reactome", "id": "R-HSA-445355", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-445355" } ], "reference": [ { "type": "PubMed", "id": "8858389", "url": "https://glygen.org/publication/PubMed/8858389" } ] }, { "title": "Cardiovascular T-type calcium channels: physiological and pharmacological significance.", "journal": "Journal of hypertension. 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