{ "uniprot_canonical_ac": "P13498-1", "uniprot_ac": "P13498", "uniprot_id": "CY24A_HUMAN", "mass": { "chemical_mass": 21013.0, "monoisotopic_mass": 21013.0 }, "refseq": { "ac": "NP_000092", "name": "cytochrome b-245 light chain", "summary": "Cytochrome b is comprised of a light chain (alpha) and a heavy chain (beta). This gene encodes the light, alpha subunit which has been proposed as a primary component of the microbicidal oxidase system of phagocytes. Mutations in this gene are associated with autosomal recessive chronic granulomatous disease (CGD), that is characterized by the failure of activated phagocytes to generate superoxide, which is important for the microbicidal activity of these cells. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000092" }, "gene_names": [ { "name": "CYBA", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P13498", "id": "P13498" }, { "name": "CGD4; p22-PHOX", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000092", "id": "NP_000092" }, { "name": "CYBA", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000092", "id": "NP_000092" } ], "protein_names": [ { "name": "Cytochrome b-245 light chain", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P13498" }, { "name": "Cytochrome b(558) alpha chain", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P13498" }, { "name": "Cytochrome b558 subunit alpha", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P13498" }, { "name": "Neutrophil cytochrome b 22 kDa polypeptide", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P13498" }, { "name": "Superoxide-generating NADPH oxidase light chain subunit", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P13498" }, { "name": "cytochrome b, alpha polypeptide; cytochrome b light chain; flavocytochrome b-558 alpha polypeptide; cytochrome b(558) alpha-subunit; p22phox; cytochrome b-245, alpha polypeptide; p22 phagocyte B-cytochrome; cytochrome b(558) alpha chain; cytochrome b558 subunit alpha; neutrophil cytochrome b 22 kDa polypeptide; superoxide-generating NADPH oxidase light chain subunit", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000092", "id": "NP_000092" }, { "name": "cytochrome b-245 light chain", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000092", "id": "NP_000092" }, { "name": "p22 phagocyte B-cytochrome", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P13498" }, { "name": "p22-phox", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P13498" }, { "name": "p22phox", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P13498" } ], "function": [ { "annotation": "CYBA allelic variants are associated with severity and recovery in Guillain-Barre syndrome.", "evidence": [ { "database": "RefSeq", "id": "NP_000092", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000092" }, { "database": "PubMed", "id": "37288802", "url": "https://glygen.org/publication/PubMed/37288802" } ] }, { "annotation": "CYBA as a Potential Biomarker for Renal Cell Carcinoma: Evidence from an Integrated Genetic Analysis.", "evidence": [ { "database": "RefSeq", "id": "NP_000092", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000092" }, { "database": "PubMed", "id": "37643785", "url": "https://glygen.org/publication/PubMed/37643785" } ] }, { "annotation": "Characterization of missense mutations in the NADPH oxidase partner p22[phox] in the A22 degrees subtype of chronic granulomatous disease.", "evidence": [ { "database": "RefSeq", "id": "NP_000092", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000092" }, { "database": "PubMed", "id": "36606663", "url": "https://glygen.org/publication/PubMed/36606663" } ] }, { "annotation": "Critical component of the membrane-bound oxidase of phagocytes that generates superoxide. Associates with NOX3 to form a functional NADPH oxidase constitutively generating superoxide.", "evidence": [ { "database": "UniProtKB", "id": "H3BNP7", "url": "https://www.uniprot.org/uniprot/H3BNP7#function" }, { "database": "UniProtKB", "id": "ARBA00002676", "url": "https://www.uniprot.org/uniprot/ARBA00002676#function" }, { "database": "UniProtKB", "id": "A0A8Q3SIJ9", "url": "https://www.uniprot.org/uniprot/A0A8Q3SIJ9#function" }, { "database": "UniProtKB", "id": "H3BPX1", "url": "https://www.uniprot.org/uniprot/H3BPX1#function" }, { "database": "UniProtKB", "id": "A0A8Q3WL14", "url": "https://www.uniprot.org/uniprot/A0A8Q3WL14#function" }, { "database": "UniProtKB", "id": "A0A8Q3WL20", "url": "https://www.uniprot.org/uniprot/A0A8Q3WL20#function" }, { "database": "UniProtKB", "id": "A0A8Q3WL27", "url": "https://www.uniprot.org/uniprot/A0A8Q3WL27#function" }, { "database": "UniProtKB", "id": "A0A8Q3WL26", "url": "https://www.uniprot.org/uniprot/A0A8Q3WL26#function" }, { "database": "UniProtKB", "id": "A0A8Q3SJ80", "url": "https://www.uniprot.org/uniprot/A0A8Q3SJ80#function" }, { "database": "UniProtKB", "id": "A0A8Q3WLM1", "url": "https://www.uniprot.org/uniprot/A0A8Q3WLM1#function" }, { "database": "UniProtKB", "id": "A0A8Q3SIH4", "url": "https://www.uniprot.org/uniprot/A0A8Q3SIH4#function" }, { "database": "UniProtKB", "id": "P13498", "url": "https://www.uniprot.org/uniprot/P13498#function" }, { "database": "PubMed", "id": "15824103", "url": "https://glygen.org/publication/PubMed/15824103" }, { "database": "PubMed", "id": "17140397", "url": "https://glygen.org/publication/PubMed/17140397" }, { "database": "UniProtKB", "id": "H3BPZ7", "url": "https://www.uniprot.org/uniprot/H3BPZ7#function" }, { "database": "UniProtKB", "id": "H3BR52", "url": "https://www.uniprot.org/uniprot/H3BR52#function" } ] }, { "annotation": "Cytochrome b is comprised of a light chain (alpha) and a heavy chain (beta). This gene encodes the light, alpha subunit which has been proposed as a primary component of the microbicidal oxidase system of phagocytes. Mutations in this gene are associated with autosomal recessive chronic granulomatous disease (CGD), that is characterized by the failure of activated phagocytes to generate superoxide, which is important for the microbicidal activity of these cells. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_000092", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000092" } ] }, { "annotation": "Polymorphic Variants of AGT, ABCA1, and CYBA Genes Influence the Survival of Patients with Coronary Artery Disease: A Prospective Cohort Study. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000092", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000092" }, { "database": "PubMed", "id": "36421822", "url": "https://glygen.org/publication/PubMed/36421822" } ] }, { "annotation": "ROCK2 interacts with p22phox to phosphorylate p47phox and to control NADPH oxidase activation in human monocytes.", "evidence": [ { "database": "RefSeq", "id": "NP_000092", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000092" }, { "database": "PubMed", "id": "36626553", "url": "https://glygen.org/publication/PubMed/36626553" } ] } ], "disease": [ { "disease_id": "DOID:0070193", "recommended_name": { "id": "DOID:0070193", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070193", "name": "autosomal recessive chronic granulomatous disease 4", "description": "A chronic granulomatous disease characterized by autosomal recessive inheritance that has_material_basis_in mutation in the CYBA gene on chromosome 16q24.2." }, "synonyms": [ { "id": "DOID:0070193", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070193", "name": "autosomal recessive chronic granulomatous disease cytochrome b-negative", "description": "" }, { "id": "DOID:0070193", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070193", "name": "CYBA deficiency", "description": "" }, { "id": "DOID:0070193", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070193", "name": "CGD due to deficiency of the alpha subunit of cytochrome b", "description": "" }, { "id": "DOID:0070193", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070193", "name": "autosomal recessive cytochrome b-negative CGD", "description": "" }, { "id": "DOID:0070193", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070193", "name": "chronic granulomatous disease due to deficiency of CYBA", "description": "" }, { "id": "MONDO:0009308", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009308", "name": "granulomatous disease, chronic, autosomal recessive, cytochrome b-negative", "description": "" }, { "id": "MONDO:0009308", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009308", "name": "chronic granulomatous disease 4, autosomal recessive", "description": "" }, { "id": "MONDO:0009308", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009308", "name": "granulomatous disease, chronic, autosomal recessive, cytochrome b-negative", "description": "" }, { "id": "MONDO:0009308", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009308", "name": "CGD due to deficiency of the Alpha Subunit of cytochrome B", "description": "" }, { "id": "MONDO:0009308", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009308", "name": "CGD, autosomal recessive cytochrome B-negative", "description": "" }, { "id": "MONDO:0009308", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009308", "name": "Cyba deficiency", "description": "" }, { "id": "MIM:233690", "resource": "MIM", "url": "https://www.omim.org/entry/233690", "name": "Granulomatous disease, chronic, autosomal recessive, 4", "description": "Granulomatous disease, chronic, autosomal recessive, 4" } ], "evidence": [ { "id": "233690", "database": "MIM", "url": "https://www.omim.org/entry/233690" } ] } ], "snv": [], "mutagenesis": [ { "start_pos": 157, "end_pos": 157, "sequence_org": "P", "sequence_mut": "Q", "comment": "Loss of interaction with NOXO1.", "evidence": [ { "database": "UniProtKB", "id": "P13498", "url": "https://www.uniprot.org/uniprot/P13498" }, { "database": "PubMed", "id": "12716910", "url": "https://glygen.org/publication/PubMed/12716910" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "94.51", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000051523", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000051523" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "94.55", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000051523", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000051523" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "97.64", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000051523", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000051523" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "87.91", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000051523", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000051523" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "98.44", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000051523", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000051523" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "97.57", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000051523", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000051523" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "97.91", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000051523", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000051523" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "95.17", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000051523", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000051523" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "97.82", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000051523", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000051523" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "94.62", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000051523", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000051523" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "90.73", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000051523", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000051523" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "95.85", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000051523", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000051523" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "97.31", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000051523", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000051523" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P13498", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P13498" } ], "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", 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"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": 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"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": 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"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, 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"https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", 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"resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "No", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P13498", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P13498" } ], "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", 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"https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "P13498", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P13498" } ], "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 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"https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the 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"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": "Yes", "trend": "up", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "P13498", "url": 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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": "No", "trend": "down", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "P13498", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P13498" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "P13498", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P13498" } ], "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": "P13498", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P13498" } ], "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": "P13498", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P13498" } ], "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": "P13498", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P13498" } ], "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": "P13498", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P13498" } ], "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, 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"https://www.rcsb.org/structure/8GZ3", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF05038", "url": "http://pfam.xfam.org/family/PF05038", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "P13498", "url": "https://pharos.nih.gov/targets/P13498", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_P13498", "url": "http://purl.obolibrary.org/obo/PR_P13498", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-1222556", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1222556", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-1236973", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1236973", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-3299685", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3299685", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-4420097", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4420097", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-5668599", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5668599", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-6798695", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6798695", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-9013149", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013149", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-9013404", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013404", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-9013423", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013423", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-9673324", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9673324", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_000092", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000092", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "A0A8Q3SIH4", "url": "https://www.uniprot.org/uniprot/A0A8Q3SIH4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8Q3SIH4-1", "url": "https://www.uniprot.org/uniprot/A0A8Q3SIH4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8Q3SIJ9", "url": "https://www.uniprot.org/uniprot/A0A8Q3SIJ9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8Q3SIJ9-1", "url": "https://www.uniprot.org/uniprot/A0A8Q3SIJ9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8Q3SJ80", "url": "https://www.uniprot.org/uniprot/A0A8Q3SJ80", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8Q3SJ80-1", "url": "https://www.uniprot.org/uniprot/A0A8Q3SJ80-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8Q3WL14", "url": "https://www.uniprot.org/uniprot/A0A8Q3WL14", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8Q3WL14-1", "url": "https://www.uniprot.org/uniprot/A0A8Q3WL14-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8Q3WL20", "url": "https://www.uniprot.org/uniprot/A0A8Q3WL20", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8Q3WL20-1", "url": "https://www.uniprot.org/uniprot/A0A8Q3WL20-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8Q3WL26", "url": "https://www.uniprot.org/uniprot/A0A8Q3WL26", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8Q3WL26-1", "url": "https://www.uniprot.org/uniprot/A0A8Q3WL26-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8Q3WL27", "url": "https://www.uniprot.org/uniprot/A0A8Q3WL27", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8Q3WL27-1", "url": "https://www.uniprot.org/uniprot/A0A8Q3WL27-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8Q3WLM1", "url": "https://www.uniprot.org/uniprot/A0A8Q3WLM1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8Q3WLM1-1", "url": "https://www.uniprot.org/uniprot/A0A8Q3WLM1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BNP7", "url": "https://www.uniprot.org/uniprot/H3BNP7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BNP7-1", "url": "https://www.uniprot.org/uniprot/H3BNP7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BPX1", "url": "https://www.uniprot.org/uniprot/H3BPX1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BPX1-1", "url": "https://www.uniprot.org/uniprot/H3BPX1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BPZ7", "url": "https://www.uniprot.org/uniprot/H3BPZ7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BPZ7-1", "url": "https://www.uniprot.org/uniprot/H3BPZ7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BR52", "url": "https://www.uniprot.org/uniprot/H3BR52", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BR52-1", "url": "https://www.uniprot.org/uniprot/H3BR52-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BT77", "url": "https://www.uniprot.org/uniprot/H3BT77", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BT77-1", "url": "https://www.uniprot.org/uniprot/H3BT77-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P13498", "url": "https://www.uniprot.org/uniprot/P13498", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P13498-1", "url": "https://www.uniprot.org/uniprot/P13498-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MGQIEWAMWANEQALASGLILITGGIVATAGRFTQWYFGAYSIVAGVFVCLLEYPRGKRKKGSTMERWGQKYMTAVVKLFGPFTRNYYVRAVLHLLLSVPAGFLLATILGTACLAIASGIYLLAAVRGEQWTPIEPKPRERPQIGGTIKQPPSNPPPRPPAEARKKPSEEEAAVAAGGPPGGPQVNPIPVTDEVV", "length": 195, "header": "sp|P13498-1|CY24A_HUMAN Isoform 1 of Cytochrome b-245 light chain OS=Homo sapiens OX=9606 GN=CYBA PE=1 SV=3 CANONICAL=P13498-1" }, "isoforms": [ { "isoform_ac": "A0A8Q3SIH4-1", "url": "", "sequence": { "sequence": "MGQIEWAMWANEQALASGLILITGGIVATAGRFTQWYFGAYSIVAGVFVCLLEYPRGKRKKGSTMERWLSVPAGFLLATILGTACLAIASGIYLLAAVRGEQWTPIEPKPRERPQIGGTIKQPPSNPPPRPPAEARKKPSEEEAAVAAGGPPGGPQVNPIPVTDEVV", "length": 167, "header": "tr|A0A8Q3SIH4-1|CY24A_HUMAN Computationally mapped isoform of Cytochrome b-245 light chain OS=Homo sapiens OX=9606 GN=CYBA PE=1 SV=1 CANONICAL=P13498-1" }, "locus": { "chromosome": "16", "start_pos": 88651013, "end_pos": 88643356, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000696156.1", "url": "https://www.ensembl.org/id/ENST00000696156.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000512446.1", "url": "https://www.ensembl.org/id/ENSP00000512446.1" } ] } }, { "isoform_ac": "A0A8Q3SIJ9-1", "url": "", "sequence": { "sequence": "MGQIEWAMWANEQALASGLILITGGIVATAGRFTQWYFGAYSIVAGVFVCLLEYPRGKRKKGSTMERWGQKYMTAVVKLFGPFTRNYYVRAVLHLLLSVPAGFLLATILGTACLAIASGIYLLILWDRR", "length": 129, "header": "tr|A0A8Q3SIJ9-1|CY24A_HUMAN Computationally mapped isoform of Cytochrome b-245 light chain OS=Homo sapiens OX=9606 GN=CYBA PE=1 SV=1 CANONICAL=P13498-1" }, "locus": { "chromosome": "16", "start_pos": 88651013, "end_pos": 88644161, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000696157.1", "url": "https://www.ensembl.org/id/ENST00000696157.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000512447.1", "url": "https://www.ensembl.org/id/ENSP00000512447.1" } ] } }, { "isoform_ac": "A0A8Q3SJ80-1", "url": "", "sequence": { "sequence": "MGQIEWAMWANEQALASGLILITGGIVATAGRFTQWYFGAYSIVAGVFVCLLEYPRGKRKKGSTMERWGQKYMTAVVKLFGPFTRNYYVRAVLHLLLSVPAGFLLATILGTACLAIASGIYLLFCFSEWNVSVLESGRITHVQFLFLFMTYMM", "length": 153, "header": "tr|A0A8Q3SJ80-1|CY24A_HUMAN Computationally mapped isoform of Cytochrome b-245 light chain OS=Homo sapiens OX=9606 GN=CYBA PE=1 SV=1 CANONICAL=P13498-1" }, "locus": { "chromosome": "16", "start_pos": 88651013, "end_pos": 88644198, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000696158.1", "url": "https://www.ensembl.org/id/ENST00000696158.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000512448.1", "url": "https://www.ensembl.org/id/ENSP00000512448.1" } ] } }, { "isoform_ac": "A0A8Q3WL14-1", "url": "", "sequence": { "sequence": "MGQIEWAMWANEQALASGLILITGGIVATAGRFTQWYFGAYSIVAGVFVCLLEYPRGKRKKGSTMERWNYYVRAVLHLLLSVPAGFLLATILGTACLAIASGIYLLAAVRGEQWTPIEPKPRERPQIGGTIKQPPSNPPPRPPAEARKKPSEEEAAVAAGGPPGGPQVNPIPVTDEVV", "length": 178, "header": "tr|A0A8Q3WL14-1|CY24A_HUMAN Computationally mapped isoform of Cytochrome b-245 light chain OS=Homo sapiens OX=9606 GN=CYBA PE=1 SV=1 CANONICAL=P13498-1" }, "locus": { "chromosome": "16", "start_pos": 88651013, "end_pos": 88643356, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000696163.1", "url": "https://www.ensembl.org/id/ENST00000696163.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000512453.1", "url": "https://www.ensembl.org/id/ENSP00000512453.1" } ] } }, { "isoform_ac": "A0A8Q3WL20-1", "url": "", "sequence": { "sequence": "MGQIEWAMWANEQALASGLILITGGIVATAGRFTQWYFGAYSIVAGVFVCLLEYPRGKRKKGSTMERWGQKYMTAVVKLFGPFTRNYYVRAVLHLLLSVPAGFLLATILGTACLAIASGIYLLNGMFPFWSQAAVRGEQWTPIEPKPRERPQIGGTIKQPPSNPPPRPPAEARKKPSEEEAAVAAGGPPGGPQVNPIPVTDEVV", "length": 204, "header": "tr|A0A8Q3WL20-1|CY24A_HUMAN Computationally mapped isoform of Cytochrome b-245 light chain OS=Homo sapiens OX=9606 GN=CYBA PE=1 SV=1 CANONICAL=P13498-1" }, "locus": { "chromosome": "16", "start_pos": 88651013, "end_pos": 88643356, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000696160.1", "url": "https://www.ensembl.org/id/ENST00000696160.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000512450.1", "url": "https://www.ensembl.org/id/ENSP00000512450.1" } ] } }, { "isoform_ac": "A0A8Q3WL26-1", "url": "", "sequence": { "sequence": "MGQIEWAMWANEQALASGLILITGGIVATAGRFTQWYFGAYSIVAGVFVCLLEYPRGKRKKGSTMERWPVPARCVLWEERGLGALGWSAGQQRSPEWERPSRAVSPSSLPQGTEVHDRRGEAVRALYQELLCSGRPASPALGARRLPAGHHPWDRLPGHCERHLPTGGCAWRAVDAHRAQAPGAAADRRHHQAAAQQPPAAAPGRGPQEAQRGGGCGGGGGTPGRSPGQPHPGDRRGRVTSPRTCPPARCTHLQ", "length": 254, "header": "tr|A0A8Q3WL26-1|CY24A_HUMAN Computationally mapped isoform of Cytochrome b-245 light chain OS=Homo sapiens OX=9606 GN=CYBA PE=1 SV=1 CANONICAL=P13498-1" }, "locus": { "chromosome": "16", "start_pos": 88651013, "end_pos": 88643309, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000696161.1", "url": "https://www.ensembl.org/id/ENST00000696161.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000512451.1", "url": "https://www.ensembl.org/id/ENSP00000512451.1" } ] } }, { "isoform_ac": "A0A8Q3WL27-1", "url": "", "sequence": { "sequence": "MGQIEWAMWANEQALASGLILITGGIVATAGRFTQWYFGAYSIVAGVFVCLLEYPRGKRKKGSTMERWGQKYMTAVVKLFGPFTRNYYVRAVLHLLLSVPAGFLLATILGTACLAIASGIYLLKCLGTLGGLPASVGEWRPPDGAGPATLLGHPSCWTSGLPPCLPCPWHLERRI", "length": 175, "header": "tr|A0A8Q3WL27-1|CY24A_HUMAN Computationally mapped isoform of Cytochrome b-245 light chain OS=Homo sapiens OX=9606 GN=CYBA PE=1 SV=1 CANONICAL=P13498-1" }, "locus": { "chromosome": "16", "start_pos": 88651013, "end_pos": 88643867, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000696159.1", "url": "https://www.ensembl.org/id/ENST00000696159.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000512449.1", "url": "https://www.ensembl.org/id/ENSP00000512449.1" } ] } }, { "isoform_ac": "A0A8Q3WLM1-1", "url": "", "sequence": { "sequence": "MGQIEWAMWANEQALASGLILITGGIVATAGRFTQWYFGAYSIVAGVFVCLLEYPRGKRKKGSTMERWGQKYMTAVVKLFGPFTRNYYVRAVLHLLLSVPAGFLLATILGTACLAIASGIYLLMESRAIAQAGVQWRDLGSLQPSPPGFKQFSCLSLPSSWDYRHVPPCLANFWYF", "length": 176, "header": "tr|A0A8Q3WLM1-1|CY24A_HUMAN Computationally mapped isoform of Cytochrome b-245 light chain OS=Homo sapiens OX=9606 GN=CYBA PE=1 SV=1 CANONICAL=P13498-1" }, "locus": { "chromosome": "16", "start_pos": 88651013, "end_pos": 88644663, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000696162.1", "url": "https://www.ensembl.org/id/ENST00000696162.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000512452.1", "url": "https://www.ensembl.org/id/ENSP00000512452.1" } ] } }, { "isoform_ac": "H3BNP7-1", "url": "", "sequence": { "sequence": "MGQIEWAMWANEQALASGLILITGGIVATAGRFTQWYFGAYSIVAGVFVCLLEYPRGKRKKGSTMERWGQKYMTAVVKLFGPFTRNYYVRAVLHLLLSVPAGFLLATILGTACLAIASGIYLLSQVPPARRGNCPPLAVRLLVCVRGKGAALSVYAFRVWKWSSVSSLTDLPPAELSFRTPSCCQVLIWAVALFSGGHPHPPRLPAATHS", "length": 210, "header": "tr|H3BNP7-1|CY24A_HUMAN Computationally mapped isoform of Cytochrome b-245 light chain OS=Homo sapiens OX=9606 GN=CYBA PE=1 SV=1 CANONICAL=P13498-1" }, "locus": { "chromosome": "16", "start_pos": 88651013, "end_pos": 88645169, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000567174.5", "url": "https://www.ensembl.org/id/ENST00000567174.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000454951.1", "url": "https://www.ensembl.org/id/ENSP00000454951.1" } ] } }, { "isoform_ac": "H3BPX1-1", "url": "", "sequence": { "sequence": "MGQIEWAMWANEQALASGLILITGGIVATAGRFTQWYFGAYSIVAGVFVCLLEYPRGKRKKGSTMERWGQKYMTAVVKLFGPFTRNYYVRAVLHLLACVCCLVCRICKDPLQIRGAPIRRQGLGLSVPAGFLLATILGTACLAIA", "length": 145, "header": "tr|H3BPX1-1|CY24A_HUMAN Computationally mapped isoform of Cytochrome b-245 light chain OS=Homo sapiens OX=9606 GN=CYBA PE=1 SV=1 CANONICAL=P13498-1" }, "locus": { "chromosome": "16", "start_pos": 88651013, "end_pos": 88646134, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000568278.1", "url": "https://www.ensembl.org/id/ENST00000568278.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000455506.1", "url": "https://www.ensembl.org/id/ENSP00000455506.1" } ] } }, { "isoform_ac": "H3BPZ7-1", "url": "", "sequence": { "sequence": "MGQIEWAMWANEQALASGLILITGGIVATAGRFTQWYFGAYSIVAGVFVCLLEYPRGKRKKGSTMERWGQKYMTAVVKLFGPFTRNYYVRAVLHLLLSVPAGFLLATILGTACLAIASGIYLLCPAGGCAWRAVDAHRAQAPGAA", "length": 145, "header": "tr|H3BPZ7-1|H3BPZ7_HUMAN Computationally mapped isoform of Cytochrome b-245 light chain OS=Homo sapiens OX=9606 GN=CYBA PE=1 SV=2 CANONICAL=P13498-1" }, "locus": { "chromosome": "16", "start_pos": 88651013, "end_pos": 88643516, "strand": "+", "evidence": [ { 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