{ "uniprot_canonical_ac": "O75618-1", "uniprot_ac": "O75618", "uniprot_id": "DEDD_HUMAN", "mass": { "chemical_mass": 36794.0, "monoisotopic_mass": 36794.0 }, "refseq": { "ac": "NP_001034800", "name": "death effector domain-containing protein isoform b", "summary": "This gene encodes a protein that contains a death effector domain (DED). DED is a protein-protein interaction domain shared by adaptors, regulators and executors of the programmed cell death pathway. Overexpression of this gene was shown to induce weak apoptosis. Upon stimulation, this protein was found to translocate from cytoplasm to nucleus and colocalize with UBTF, a basal factor required for RNA polymerase I transcription, in the nucleolus. At least three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034800" }, "gene_names": [ { "name": "DEDD", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O75618", "id": "O75618" }, { "name": "CASP8IP1; DEDD1; DEDPro1; DEFT; FLDED-1; FLDED1; KE05", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034800", "id": "NP_001034800" }, { "name": "DEDD", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034800", "id": "NP_001034800" }, { "name": "DEDPRO1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O75618", "id": "O75618" }, { "name": "DEFT", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O75618", "id": "O75618" }, { "name": "KE05", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O75618", "id": "O75618" }, { "name": "hCG_20845", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O75618", "id": "O75618" } ], "protein_names": [ { "name": "Death effector domain-containing protein", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O75618" }, { "name": "DEDPro1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75618" }, { "name": "Death effector domain-containing testicular molecule", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75618" }, { "name": "FLDED-1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75618" }, { "name": "death effector domain-containing protein isoform b", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034800", "id": "NP_001034800" }, { "name": "death effector domain-containing protein; death effector domain-containing testicular molecule", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034800", "id": "NP_001034800" } ], "function": [ { "annotation": "A scaffold protein that directs CASP3 to certain substrates and facilitates their ordered degradation during apoptosis. May also play a role in mediating CASP3 cleavage of KRT18. Regulates degradation of intermediate filaments during apoptosis. May play a role in the general transcription machinery in the nucleus and might be an important regulator of the activity of GTF3C3. Inhibits DNA transcription in vitro (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "O75618", "url": "https://www.uniprot.org/uniprot/O75618#function" }, { "database": "PubMed", "id": "12235123", "url": "https://glygen.org/publication/PubMed/12235123" } ] }, { "annotation": "DEDD forms nuclear complexes with the TFIIIC102 subunit of human transcription factor IIIC", "evidence": [ { "database": "RefSeq", "id": "NP_001034800", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034800" }, { "database": "PubMed", "id": "11965497", "url": "https://glygen.org/publication/PubMed/11965497" } ] }, { "annotation": "DEDD protein role in cell proliferation and migration of bladder cancer", "evidence": [ { "database": "RefSeq", "id": "NP_001034800", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034800" }, { "database": "PubMed", "id": "28000900", "url": "https://glygen.org/publication/PubMed/28000900" } ] }, { "annotation": "Identify MCL1 and DEDD as genes that contribute to aggressive urothelial carcinomas.", "evidence": [ { "database": "RefSeq", "id": "NP_001034800", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034800" }, { "database": "PubMed", "id": "30777879", "url": "https://glygen.org/publication/PubMed/30777879" } ] }, { "annotation": "MicroRNA-17 inhibition overcomes chemoresistance and suppresses epithelial-mesenchymal transition through a DEDD-dependent mechanism in gastric cancer", "evidence": [ { "database": "RefSeq", "id": "NP_001034800", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034800" }, { "database": "PubMed", "id": "29953965", "url": "https://glygen.org/publication/PubMed/29953965" } ] }, { "annotation": "This gene encodes a protein that contains a death effector domain (DED). DED is a protein-protein interaction domain shared by adaptors, regulators and executors of the programmed cell death pathway. Overexpression of this gene was shown to induce weak apoptosis. Upon stimulation, this protein was found to translocate from cytoplasm to nucleus and colocalize with UBTF, a basal factor required for RNA polymerase I transcription, in the nucleolus. At least three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_001034800", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034800" } ] }, { "annotation": "Via direct interaction with the class III PI-3-kinase (PI3KC3)/Beclin1, DEDD activated autophagy and induced the degradation of Snail and Twist, two master regulators of EMT", "evidence": [ { "database": "RefSeq", "id": "NP_001034800", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034800" }, { "database": "PubMed", "id": "22719072", "url": "https://glygen.org/publication/PubMed/22719072" } ] } ], "disease": [], "snv": [], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "88.37", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000158796", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000158796" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "88.85", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000158796", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000158796" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "89.37", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000158796", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000158796" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "84.63", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000158796", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000158796" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "93.15", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000158796", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000158796" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "91.63", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000158796", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000158796" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "88.69", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000158796", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000158796" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "90.83", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000158796", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000158796" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "92.23", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000158796", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000158796" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "86.44", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000158796", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000158796" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "87.05", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000158796", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000158796" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "91.49", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000158796", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000158796" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "92.44", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000158796", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000158796" } ] } ], "expression_disease": [ { "significant": "No", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O75618", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75618" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "No", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O75618", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75618" } ], "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", 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"https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O75618", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75618" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": 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"https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "O75618", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75618" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "O75618", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75618" } ], "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": 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"MAGLKRRASQVWPEEHGEQEHGLYSLHRMFDIVGTHLTHRDVRVLSFLFVDVIDDHERGLIRNGRDFLLALERQGRCDESNFRQVLQLLRIITRHDLLPYVTLKRRRAVCPDLVDKYLEETSIRYVTPRALSDPEPRPPQPSKTVPPHYPVVCCPTSGPQMCSKRPARGRATLGSQRKRRKSVTPDPKEKQTCDIRLRVRAEYCQHETALQGNVFSNKQDPLERQFERFNQANTILKSRDLGSIICDIKFSELTYLDAFWRDYINGSLLEALKGVFITDSLKQAVGHEAIKLLVNVDEEDYELGRQKLLRNLMLQALP", "length": 318, "header": "sp|O75618-1|DEDD_HUMAN Isoform 1 of Death effector domain-containing protein OS=Homo sapiens OX=9606 GN=DEDD PE=1 SV=1 CANONICAL=O75618-1" }, "isoforms": [ { "isoform_ac": "B1AQP5-1", "url": "", "sequence": { "sequence": "MAGLKRRASQVWPEEHGEQEHGLYSLHRMFDIVGTHLTHRDVRVLSFLFVDVIDDHERGLIRNGRDFLLALERQGRCDESNFRQVLQLLRIITRHDLLPYVTLKRRRAVCPDLVDKYLEETSIRYVTPRALSDPEPRPPQPSKTVPPHYPVVCCPTSGPQMCSKRPARGRATLGSQRKRRKSVTPDPKEKQTCGEEVQGFQRWSRLEGEYKELLGHWAVYAIQYIRLRVRAEYCQHETALQGNVFSNKQDPLERQFERFNQANTILKSRDLGSIICDIKFSELTYLDAFWRDYINGSLLEALKGVFITDSLKQAVGHEAIKLLVNVDEEDYELGRQKLLRNLMLQALP", "length": 348, "header": "tr|B1AQP5-1|B1AQP5_HUMAN Computationally mapped isoform of Death effector domain containing OS=Homo sapiens OX=9606 GN=DEDD PE=1 SV=1 CANONICAL=O75618-1" }, "locus": { "chromosome": "1", "start_pos": 161124462, "end_pos": 161122150, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000368005.5", "url": "https://www.ensembl.org/id/ENST00000368005.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000356984.1", "url": "https://www.ensembl.org/id/ENSP00000356984.1" } ] } }, { "isoform_ac": "O75618-1", "url": "", "sequence": { "sequence": "MAGLKRRASQVWPEEHGEQEHGLYSLHRMFDIVGTHLTHRDVRVLSFLFVDVIDDHERGLIRNGRDFLLALERQGRCDESNFRQVLQLLRIITRHDLLPYVTLKRRRAVCPDLVDKYLEETSIRYVTPRALSDPEPRPPQPSKTVPPHYPVVCCPTSGPQMCSKRPARGRATLGSQRKRRKSVTPDPKEKQTCDIRLRVRAEYCQHETALQGNVFSNKQDPLERQFERFNQANTILKSRDLGSIICDIKFSELTYLDAFWRDYINGSLLEALKGVFITDSLKQAVGHEAIKLLVNVDEEDYELGRQKLLRNLMLQALP", "length": 318, "header": "sp|O75618-1|DEDD_HUMAN Isoform 1 of Death effector domain-containing protein OS=Homo sapiens OX=9606 GN=DEDD PE=1 SV=1 CANONICAL=O75618-1" }, "locus": { "chromosome": "1", "start_pos": 161124462, "end_pos": 161122150, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000368006.8", "url": "https://www.ensembl.org/id/ENST00000368006.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000356985.3", "url": "https://www.ensembl.org/id/ENSP00000356985.3" } ] } }, { "isoform_ac": "O75618-2", "url": "", "sequence": { "sequence": "MAGLKRRASQVWPEEHGEQEHGLYSLHRMFDIVGTHLTHRDVRVLSFLFVDVIDDHERGLIRNGRDFLLALERQGRCDESNFRQVLQLLRIITRHDLLPYVTLKRRRAVCPDLVDKYLEETSIRYVTPRALSDPEPRPPQPSKTVPPHYPVVCCPTSGPQMCSKRPARGRATLGSQRKRRKSVTPDPKEKQTCGEEIQGFQRWSRLEGEYKELLGHWAVYAIQYIRLRVRAEYCQHETALQGNVFSNKQDPLERQFERFNQANTILKSRDLGSIICDIKFSELTYLDAFWRDYINGSLLEALKGVFITDSLKQAVGHEAIKLLVNVDEEDYELGRQKLLRNLMLQALP", "length": 348, "header": "sp|O75618-2|DEDD_HUMAN Isoform 2 of Death effector domain-containing protein OS=Homo sapiens OX=9606 GN=DEDD PE=1 SV=1 CANONICAL=O75618-1" }, "locus": {} }, { "isoform_ac": "V9GY27-1", "url": "", "sequence": { "sequence": "MAGLKRRASQVWPEEHGEQEHGLYSLHRMFDIVGTHLTHRDVRVLSFLFVDVIDDHERGLIRNGRDFLLALERQGRCDESNFRQVLQLLRIITRHDLLPYVTLKRRRAVCPDLVDKYLEETSIRYVTPRALSDPEPRPPQPSKTVPPHYPVVCCPTSGPQMCSKRPARGRATLGSQRKRRKSVTPDPKEKQTCDIRLRVRAEYCQHETALQGNVFSNKQDPLERQFERFNQANTILKSRDLGSIICDIKFSELTYLDAFWRDYINGSLLEALKGVFITDSLKQAVGH", "length": 287, "header": "tr|V9GY27-1|V9GY27_HUMAN Computationally mapped isoform of Death effector domain containing OS=Homo sapiens OX=9606 GN=DEDD PE=1 SV=1 CANONICAL=O75618-1" }, "locus": { "chromosome": "1", "start_pos": 161124462, "end_pos": 161122243, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000464113.1", "url": "https://www.ensembl.org/id/ENST00000464113.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000476316.1", "url": "https://www.ensembl.org/id/ENSP00000476316.1" } ] } } ], "glycosylation": [], "phosphorylation": [], "glycation": [], "keywords": [], "publication": [ { "title": "Death effector domain-containing proteins DEDD and FLAME-3 form nuclear complexes with the TFIIIC102 subunit of human transcription factor IIIC.", "journal": "Cell Death Differ.", "date": "2002", "authors": "Zhan Y, Hegde R, Srinivasula SM, Fernandes-Alnemri T, Alnemri ES", "evidence": [ { "database": "UniProtKB", "id": "O75618", "url": "https://www.uniprot.org/uniprot/O75618" }, { "database": "RefSeq", "id": "NP_001034800", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034800" } ], "reference": [ { "type": "PubMed", "id": "11965497", "url": "https://glygen.org/publication/PubMed/11965497" } ] }, { "title": "DEDD regulates degradation of intermediate filaments during apoptosis.", "journal": "The Journal of cell biology", "date": "2002", "authors": "Lee JC, Schickling O, Stegh AH, Oshima RG, Dinsdale D, Cohen GM, Peter ME", "evidence": [ { "database": "UniProtKB", "id": "O75618", "url": "https://www.uniprot.org/uniprot/O75618" } ], "reference": [ { "type": "PubMed", "id": "12235123", "url": "https://glygen.org/publication/PubMed/12235123" } ] }, { "title": "DEDD and DEDD2 associate with caspase-8/10 and signal cell death.", "journal": "Oncogene", "date": "2003", "authors": "Alcivar A, Hu S, Tang J, Yang X", "evidence": [ { "database": "UniProtKB", "id": "O75618", "url": "https://www.uniprot.org/uniprot/O75618" } ], "reference": [ { "type": "PubMed", "id": "12527898", "url": "https://glygen.org/publication/PubMed/12527898" } ] }, { "title": "DEDD interacts with PI3KC3 to activate autophagy and attenuate epithelial-mesenchymal transition in human breast cancer.", "journal": "Cancer research", "date": "2012", "authors": "Lv Q, Wang W, Xue J, Hua F, Mu R, Lin H, Yan J, Lv X, Chen X, Hu ZW", "evidence": [ { "database": "RefSeq", "id": "NP_001034800", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034800" } ], "reference": [ { "type": "PubMed", "id": "22719072", "url": "https://glygen.org/publication/PubMed/22719072" } ] }, { "title": "miR-24-3p regulates bladder cancer cell proliferation, migration, invasion and autophagy by targeting DEDD.", "journal": "Oncology reports", "date": "2017", "authors": "Yu G, Jia Z, Dou Z", "evidence": [ { "database": "RefSeq", "id": "NP_001034800", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034800" } ], "reference": [ { "type": "PubMed", "id": "28000900", "url": "https://glygen.org/publication/PubMed/28000900" } ] }, { "title": "MicroRNA-17 inhibition overcomes chemoresistance and suppresses epithelial-mesenchymal transition through a DEDD-dependent mechanism in gastric cancer.", "journal": "The international journal of biochemistry & cell biology", "date": "2018", "authors": "Wu DM, Hong XW, Wang LL, Cui XF, Lu J, Chen GQ, Zheng YL", "evidence": [ { "database": "RefSeq", "id": "NP_001034800", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034800" } ], "reference": [ { "type": "PubMed", "id": "29953965", "url": "https://glygen.org/publication/PubMed/29953965" } ] }, { "title": "MCL1 and DEDD Promote Urothelial Carcinoma Progression.", "journal": "Molecular cancer research : MCR", "date": "2019", "authors": "Hong AL, Guerriero JL, Doshi MB, Kynnap BD, Kim WJ, Schinzel AC, Modiste R, Schlauch AJ, Adam RM, Kwiatkowski DJ, Beroukhim R, Letai A, Rosenberg JE, Hahn WC", "evidence": [ { "database": "RefSeq", "id": "NP_001034800", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034800" } ], "reference": [ { "type": "PubMed", "id": "30777879", "url": "https://glygen.org/publication/PubMed/30777879" } ] }, { "title": "DEDD, a novel death effector domain-containing protein, targeted to the nucleolus.", "journal": "EMBO J.", "date": "1998", "authors": "Stegh AH, Schickling O, Ehret A, Scaffidi C, Peterhansel C, Hofmann TG, Grummt I, Krammer PH, Peter ME", "evidence": [ { "database": "UniProtKB", "id": "O75618", "url": "https://www.uniprot.org/uniprot/O75618" } ], "reference": [ { "type": "PubMed", "id": "9774341", "url": "https://glygen.org/publication/PubMed/9774341" } ] }, { "title": "DEFT, a novel death effector domain-containing molecule predominantly expressed in testicular germ cells.", "journal": "Endocrinology", "date": "1998", "authors": "Leo CP, Hsu SY, McGee EA, Salanova M, Hsueh AJ", "evidence": [ { "database": "UniProtKB", "id": "O75618", "url": "https://www.uniprot.org/uniprot/O75618" } ], "reference": [ { "type": "PubMed", "id": "9832420", "url": "https://glygen.org/publication/PubMed/9832420" } ] } ], "pathway": [ { "id": "hsa:9191", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:9191", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "Q9Z1L3-1", "protein_name": "Death effector domain-containing protein", "gene_name": "Dedd", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MAGLKRRASQVWPEERGEQEHGLYSLHRMFDIVGTHLTHRDVRVLSFLFVDVIDDHERGLIRNGRDFLLALERQGRCDESNFRQVLQLLRIITRHDLLPYVTLKKRRAVCPDLVDKYLEETSIRYVTPRALSDPEPRPPQPSKTVPPHYPVVCCPTSGSQMCSKRPARGRTTLGSQRKRRKSVTPDPKEKQTCDIRLRVRAEYCQHETALQGNVFSNKQDPLERQFERFNQANTILKSRDLGSIICDIKFSELTYLDAFWRDYINGSLLEALKGVFITDSLKQAVGHEAIKLLVNVDEEDYELGRQKLLRNLMLQALP", "length": 318 }, "evidence": [ { "id": "45930750", "url": "http://www.informatics.jax.org/homology/45930750", "database": "MGI" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "Q9Z2K0-1", "protein_name": "Death effector domain-containing protein", "gene_name": "Dedd", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MAGLKRRASQVWPEERVEQEHGLYSLHRMFDIVGTHLTHRDVRVLSFLFVDVIDDHERGLIRNGRDFLLALERQGRCDESNFRQVLQLLRIITRHDLLPYVTLKKRRAVCPDLVDKYLEETSIRYVTPRALSDPEPRPPQPSKTVPPHYPVVCCPTSGSQMCSKRPARGRTTLGSQRKRRKSVTPDPKEKQTCDIRLRVRAEYCQHETALQGNVFSNKQDPLERQFERFNQANTILKSRDLGSIICDIKFSELTYLDAFWRDYINGSLLEALKGVFITDSLKQAVGHEAIKLLVNVDEEDYELGRQKLLRNLMLQALP", "length": 318 }, "evidence": [ { "id": "45930750", "url": "http://www.informatics.jax.org/homology/45930750", "database": "MGI" } ], "common_name": "Rat" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 2, "go_terms": [ { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "O75618", "url": "https://www.uniprot.org/uniprot/O75618" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "O75618", "url": "https://www.uniprot.org/uniprot/O75618" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 7, "go_terms": [ { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "O75618", "url": "https://www.uniprot.org/uniprot/O75618" } ], "pmid": "" }, { "name": "regulation of apoptotic process", "id": "GO:0042981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042981", "evidence": [ { "database": "UniProtKB", "id": "O75618", "url": "https://www.uniprot.org/uniprot/O75618" } ], "pmid": "" }, { "name": "spermatogenesis", "id": "GO:0007283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007283", "evidence": [ { "database": "UniProtKB", "id": "O75618", "url": "https://www.uniprot.org/uniprot/O75618" } ], "pmid": "" }, { "name": "negative regulation of protein catabolic process", "id": "GO:0042177", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042177", "evidence": [ { "database": "UniProtKB", "id": "O75618", "url": "https://www.uniprot.org/uniprot/O75618" } ], "pmid": "" }, { "name": "decidualization", "id": "GO:0046697", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046697", "evidence": [ { "database": "UniProtKB", "id": "O75618", "url": "https://www.uniprot.org/uniprot/O75618" } ], "pmid": "" }, { "name": "extrinsic apoptotic signaling pathway via death domain receptors", "id": "GO:0008625", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008625", "evidence": [ { "database": "UniProtKB", "id": "O75618", "url": "https://www.uniprot.org/uniprot/O75618" } ], "pmid": "" }, { "name": "negative regulation of transcription of nucleolar large rRNA by RNA polymerase I", "id": "GO:1901837", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901837", "evidence": [ { "database": "UniProtKB", "id": "O75618", "url": "https://www.uniprot.org/uniprot/O75618" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 1, "go_terms": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "O75618", "url": "https://www.uniprot.org/uniprot/O75618" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 265, "end_pos": 267, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], 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