{ "uniprot_canonical_ac": "A1XBS5-1", "uniprot_ac": "A1XBS5", "uniprot_id": "CBAR1_HUMAN", "mass": { "chemical_mass": 33431.0, "monoisotopic_mass": 33431.0 }, "refseq": { "ac": "NP_001269963", "name": "CBY1-interacting BAR domain-containing protein 1 isoform 2", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269963" }, "gene_names": [ { "name": "CIBAR1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/A1XBS5", "id": "A1XBS5" }, { "name": "BARMR1; FAM92A; FAM92A1; PAPA9", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269963", "id": "NP_001269963" }, { "name": "CIBAR1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269963", "id": "NP_001269963" }, { "name": "FAM92A1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A1XBS5", "id": "A1XBS5" }, { "name": "FAM92A", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A1XBS5", "id": "A1XBS5" } ], "protein_names": [ { "name": "CBY1-interacting BAR domain-containing protein 1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "A1XBS5" }, { "name": "CBY1-interacting BAR domain-containing protein 1 isoform 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269963", "id": "NP_001269963" }, { "name": "protein FAM92A1; family with sequence similarity 92 member A1; CBY1-interacting BAR domain-containing protein 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269963", "id": "NP_001269963" } ], "function": [ { "annotation": "A new nonsyndromic autosomal recessive nonsyndromic postaxial polydactyly type A ciliopathy due to a loss-of-function variant in FAM92A.", "evidence": [ { "database": "RefSeq", "id": "NP_001269963", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269963" }, { "database": "PubMed", "id": "30395363", "url": "https://glygen.org/publication/PubMed/30395363" } ] }, { "annotation": "Acts as a positive regulator of ciliary hedgehog signaling (By similarity). Probable regulator of ciliogenesis involved in limb morphogenesis (PubMed:27528616, PubMed:30395363). In cooperation with CBY1 it is involved in the recruitment and fusion of endosomal vesicles at distal appendages during early stages of ciliogenesis (PubMed:27528616, PubMed:30395363). Plays an important role in the mitochondrial function and is essential for maintaining mitochondrial morphology and inner membrane ultrastructure (PubMed:30404948). In vitro, can generate membrane curvature through preferential interaction with negatively charged phospholipids such as phosphatidylinositol 4,5-bisphosphate and cardiolipin and hence orchestrate cristae shape (PubMed:30404948).", "evidence": [ { "database": "UniProtKB", "id": "A1XBS5", "url": "https://www.uniprot.org/uniprot/A1XBS5#function" }, { "database": "PubMed", "id": "27528616", "url": "https://glygen.org/publication/PubMed/27528616" }, { "database": "PubMed", "id": "30395363", "url": "https://glygen.org/publication/PubMed/30395363" }, { "database": "UniProtKB", "id": "Q8BP22", "url": "https://www.uniprot.org/uniprot/Q8BP22#function" }, { "database": "PubMed", "id": "30404948", "url": "https://glygen.org/publication/PubMed/30404948" } ] }, { "annotation": "BARMR1-mediated sorafenib resistance is derived through stem-like property acquisition by activating integrin-FAK signaling pathways. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001269963", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269963" }, { "database": "PubMed", "id": "32532973", "url": "https://glygen.org/publication/PubMed/32532973" } ] }, { "annotation": "BARMR1/FAM92A1, a novel gene encoding BAR domain protein with multi-functions. Review article", "evidence": [ { "database": "RefSeq", "id": "NP_001269963", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269963" }, { "database": "PubMed", "id": "32891772", "url": "https://glygen.org/publication/PubMed/32891772" } ] }, { "annotation": "FAM92 proteins interact with Cby1 to promote ciliogenesis via regulation of membrane-remodeling processes. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001269963", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269963" }, { "database": "PubMed", "id": "27528616", "url": "https://glygen.org/publication/PubMed/27528616" } ] }, { "annotation": "FAM92A1 has different splicing variants, and that it may take part in regulating cell proliferation and apoptosis.", "evidence": [ { "database": "RefSeq", "id": "NP_001269963", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269963" }, { "database": "PubMed", "id": "17646714", "url": "https://glygen.org/publication/PubMed/17646714" } ] }, { "annotation": "FAM92A1-289 is a new tumor-related gene with oncogenic potentials to probably play roles in renal carcinogenesis.", "evidence": [ { "database": "RefSeq", "id": "NP_001269963", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269963" }, { "database": "PubMed", "id": "19059705", "url": "https://glygen.org/publication/PubMed/19059705" } ] }, { "annotation": "FAM92A1-289 retains many oncogenic properties evidenced by facilitating cell migration, boosting cell proliferation and promoting colony formation in vitro and tumor growth in vivo, providing evidence for use as as a therapeutic target for cancer treatment.", "evidence": [ { "database": "RefSeq", "id": "NP_001269963", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269963" }, { "database": "PubMed", "id": "27798880", "url": "https://glygen.org/publication/PubMed/27798880" } ] }, { "annotation": "Optimizing purification of the peripheral membrane protein FAM92A1 fused to a modified spidroin tag.", "evidence": [ { "database": "RefSeq", "id": "NP_001269963", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269963" }, { "database": "PubMed", "id": "34648955", "url": "https://glygen.org/publication/PubMed/34648955" } ] }, { "annotation": "The findings uncover a role for a BAR domain FAM92A1 protein as a critical organizer of the mitochondrial ultrastructure that is indispensable for mitochondrial function.", "evidence": [ { "database": "RefSeq", "id": "NP_001269963", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269963" }, { "database": "PubMed", "id": "30404948", "url": "https://glygen.org/publication/PubMed/30404948" } ] } ], "disease": [ { "disease_id": "MONDO:0032603", "recommended_name": { "id": "MONDO:0032603", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0032603", "name": "polydactyly, postaxial, type A9", "description": "" }, "synonyms": [ { "id": "MONDO:0032603", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0032603", "name": "PAPA9", "description": "" }, { "id": "MONDO:0032603", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0032603", "name": "POLYDACTYLY, POSTAXIAL, TYPE A9", "description": "" }, { "id": "MIM:618219", "resource": "MIM", "url": "https://www.omim.org/entry/618219", "name": "Polydactyly, postaxial, A9", "description": "Polydactyly, postaxial, A9" } ], "evidence": [ { "id": "618219", "database": "MIM", "url": "https://www.omim.org/entry/618219" } ] } ], "snv": [], "mutagenesis": [ { "start_pos": 107, "end_pos": 107, "sequence_org": "K", "sequence_mut": "A", "comment": "Reduced membrane-binding and significant reduction in membrane remodeling activity; when associated with A-109 and A-110.", "evidence": [ { "database": "UniProtKB", "id": "A1XBS5", "url": "https://www.uniprot.org/uniprot/A1XBS5" }, { "database": "PubMed", "id": "30404948", "url": "https://glygen.org/publication/PubMed/30404948" } ] }, { "start_pos": 107, "end_pos": 107, "sequence_org": "K", "sequence_mut": "E", "comment": "Abolishes ability to induce membrane remodeling in the presence of CBY1; when associated with E-110; E-114; E-132; E-134 and E-136.", "evidence": [ { "database": "UniProtKB", "id": "A1XBS5", "url": "https://www.uniprot.org/uniprot/A1XBS5" }, { "database": "PubMed", "id": "27528616", "url": "https://glygen.org/publication/PubMed/27528616" } ] }, { "start_pos": 109, "end_pos": 109, "sequence_org": "K", "sequence_mut": "A", "comment": "Reduced membrane-binding and significant reduction in membrane remodeling activity; when associated with A-107 and A-110.", "evidence": [ { "database": "UniProtKB", "id": "A1XBS5", "url": "https://www.uniprot.org/uniprot/A1XBS5" }, { "database": "PubMed", "id": "30404948", "url": "https://glygen.org/publication/PubMed/30404948" } ] }, { "start_pos": 110, "end_pos": 110, "sequence_org": "R", "sequence_mut": "A", "comment": "Reduced membrane-binding and significant reduction in membrane remodeling activity; when associated with A-107 and A-109.", "evidence": [ { "database": "UniProtKB", "id": "A1XBS5", "url": "https://www.uniprot.org/uniprot/A1XBS5" }, { "database": "PubMed", "id": "30404948", "url": "https://glygen.org/publication/PubMed/30404948" } ] }, { "start_pos": 110, "end_pos": 110, "sequence_org": "R", "sequence_mut": "E", "comment": "Abolishes ability to induce membrane remodeling in the presence of CBY1; when associated with E-107;E-114; E-132; E-134 and E-136.", "evidence": [ { "database": "UniProtKB", "id": "A1XBS5", "url": "https://www.uniprot.org/uniprot/A1XBS5" }, { "database": "PubMed", "id": "27528616", "url": "https://glygen.org/publication/PubMed/27528616" } ] }, { "start_pos": 114, "end_pos": 114, "sequence_org": "K", "sequence_mut": "E", "comment": "Abolishes ability to induce membrane remodeling in the presence of CBY1; when associated with E-107; E-110; E-132; E-134 and E-136.", "evidence": [ { "database": "UniProtKB", "id": "A1XBS5", "url": "https://www.uniprot.org/uniprot/A1XBS5" }, { "database": "PubMed", "id": "27528616", "url": "https://glygen.org/publication/PubMed/27528616" } ] }, { "start_pos": 132, "end_pos": 132, "sequence_org": "R", "sequence_mut": "A", "comment": "Reduced membrane-binding and significant reduction in membrane remodeling activity; when associated with A-134 and A-136.", "evidence": [ { "database": "UniProtKB", "id": "A1XBS5", "url": "https://www.uniprot.org/uniprot/A1XBS5" }, { "database": "PubMed", "id": "30404948", "url": "https://glygen.org/publication/PubMed/30404948" } ] }, { "start_pos": 132, "end_pos": 132, "sequence_org": "R", "sequence_mut": "E", "comment": "Abolishes ability to induce membrane remodeling in the presence of CBY1; when associated with E-107; E-110; E-114; E-134 and E-136.", "evidence": [ { "database": "UniProtKB", "id": "A1XBS5", "url": "https://www.uniprot.org/uniprot/A1XBS5" }, { "database": "PubMed", "id": "27528616", "url": "https://glygen.org/publication/PubMed/27528616" } ] }, { "start_pos": 134, "end_pos": 134, "sequence_org": "R", "sequence_mut": "A", "comment": "Reduced membrane-binding and significant reduction in membrane remodeling activity; when associated with A-132 and A-136.", "evidence": [ { "database": "UniProtKB", "id": "A1XBS5", "url": "https://www.uniprot.org/uniprot/A1XBS5" }, { "database": "PubMed", "id": "30404948", "url": "https://glygen.org/publication/PubMed/30404948" } ] }, { "start_pos": 134, "end_pos": 134, "sequence_org": "R", "sequence_mut": "E", "comment": "Abolishes ability to induce membrane remodeling in the presence of CBY1; when associated with E-107; E-110; E-114; E-132 and E-136.", "evidence": [ { "database": "UniProtKB", "id": "A1XBS5", "url": "https://www.uniprot.org/uniprot/A1XBS5" }, { "database": "PubMed", "id": "27528616", "url": "https://glygen.org/publication/PubMed/27528616" } ] }, { "start_pos": 136, "end_pos": 136, "sequence_org": "R", "sequence_mut": "A", "comment": "Reduced membrane-binding and significant reduction in membrane remodeling activity; when associated with A-132 and A-134.", "evidence": [ { "database": "UniProtKB", "id": "A1XBS5", "url": "https://www.uniprot.org/uniprot/A1XBS5" }, { "database": "PubMed", "id": "30404948", "url": "https://glygen.org/publication/PubMed/30404948" } ] }, { "start_pos": 136, "end_pos": 136, "sequence_org": "R", "sequence_mut": "E", "comment": "Abolishes ability to induce membrane remodeling in the presence of CBY1; when associated with E-107; E-110; E-114; E-132 and E-134.", "evidence": [ { "database": "UniProtKB", "id": "A1XBS5", "url": "https://www.uniprot.org/uniprot/A1XBS5" }, { "database": "PubMed", "id": "27528616", "url": "https://glygen.org/publication/PubMed/27528616" } ] }, { "start_pos": 264, "end_pos": 264, "sequence_org": "R", "sequence_mut": "A", "comment": "Reduced membrane-binding and significant reduction in membrane remodeling activity; when associated with A-266 and A-267.", "evidence": [ { "database": "UniProtKB", "id": "A1XBS5", "url": "https://www.uniprot.org/uniprot/A1XBS5" }, { "database": "PubMed", "id": "30404948", "url": "https://glygen.org/publication/PubMed/30404948" } ] }, { "start_pos": 266, "end_pos": 266, "sequence_org": "R", "sequence_mut": "A", "comment": "Reduced membrane-binding and significant reduction in membrane remodeling activity; when associated with A-264 and A-267.", "evidence": [ { "database": "UniProtKB", "id": "A1XBS5", "url": "https://www.uniprot.org/uniprot/A1XBS5" }, { "database": "PubMed", "id": "30404948", "url": "https://glygen.org/publication/PubMed/30404948" } ] }, { "start_pos": 267, "end_pos": 267, "sequence_org": "K", "sequence_mut": "A", "comment": "Reduced membrane-binding and significant reduction in membrane remodeling activity; when associated with A-264 and A-266.", "evidence": [ { "database": "UniProtKB", "id": "A1XBS5", "url": "https://www.uniprot.org/uniprot/A1XBS5" }, { "database": "PubMed", "id": "30404948", "url": "https://glygen.org/publication/PubMed/30404948" } ] } ], "expression_tissue": [], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "A1XBS5", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A1XBS5" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, 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"https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "No", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "A1XBS5", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A1XBS5" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor 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"https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "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": "No", "trend": "down", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "A1XBS5", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A1XBS5" } ], "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": 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"url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A1XBS5" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "A1XBS5", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A1XBS5" } ], "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": "No", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "A1XBS5", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A1XBS5" } ], "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": "down", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "A1XBS5", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A1XBS5" } ], "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": "No", "trend": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "A1XBS5", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A1XBS5" } ], "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": "No", "trend": "up", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "A1XBS5", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A1XBS5" } ], "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Esophageal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "A1XBS5", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A1XBS5" } ], "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", 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"http://www.pantherdb.org/panther/family.do?clsAccession=PTHR21223:SF4", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF06730", "url": "http://pfam.xfam.org/family/PF06730", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "A1XBS5", "url": "https://pharos.nih.gov/targets/A1XBS5", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_A1XBS5", "url": "http://purl.obolibrary.org/obo/PR_A1XBS5", "database": "PRO", "categories": [ "Protein" ] }, { "id": "NP_001269963", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269963", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "A0A0B4J212", "url": "https://www.uniprot.org/uniprot/A0A0B4J212", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0B4J212-1", "url": "https://www.uniprot.org/uniprot/A0A0B4J212-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A1XBS5", "url": "https://www.uniprot.org/uniprot/A1XBS5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A1XBS5-1", "url": "https://www.uniprot.org/uniprot/A1XBS5-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A1XBS5-2", "url": "https://www.uniprot.org/uniprot/A1XBS5-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A1XBS5-3", "url": "https://www.uniprot.org/uniprot/A1XBS5-3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A1XBS5-4", "url": "https://www.uniprot.org/uniprot/A1XBS5-4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A1XBS5-5", "url": "https://www.uniprot.org/uniprot/A1XBS5-5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E5RFH7", "url": "https://www.uniprot.org/uniprot/E5RFH7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E5RFH7-1", "url": "https://www.uniprot.org/uniprot/E5RFH7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E5RFS7", "url": "https://www.uniprot.org/uniprot/E5RFS7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E5RFS7-1", "url": "https://www.uniprot.org/uniprot/E5RFS7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E5RGD0", "url": "https://www.uniprot.org/uniprot/E5RGD0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E5RGD0-1", "url": "https://www.uniprot.org/uniprot/E5RGD0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E5RGE3", "url": "https://www.uniprot.org/uniprot/E5RGE3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E5RGE3-1", "url": "https://www.uniprot.org/uniprot/E5RGE3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E5RGP4", "url": "https://www.uniprot.org/uniprot/E5RGP4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E5RGP4-1", "url": "https://www.uniprot.org/uniprot/E5RGP4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E5RHA4", "url": "https://www.uniprot.org/uniprot/E5RHA4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E5RHA4-1", "url": "https://www.uniprot.org/uniprot/E5RHA4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E5RHK0", "url": "https://www.uniprot.org/uniprot/E5RHK0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E5RHK0-1", "url": "https://www.uniprot.org/uniprot/E5RHK0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E5RID3", "url": "https://www.uniprot.org/uniprot/E5RID3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E5RID3-1", "url": "https://www.uniprot.org/uniprot/E5RID3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8W7P5", "url": "https://www.uniprot.org/uniprot/F8W7P5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8W7P5-1", "url": "https://www.uniprot.org/uniprot/F8W7P5-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YC32", "url": "https://www.uniprot.org/uniprot/H0YC32", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YC32-1", "url": "https://www.uniprot.org/uniprot/H0YC32-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MMRRTLENRNAQTKQLQTAVSNVEKHFGELCQIFAAYVRKTARLRDKADLLVNEINAYAATETPHLKLGLMNFADEFAKLQDYRQAEVERLEAKVVEPLKTYGTIVKMKRDDLKATLTARNREAKQLTQLERTRQRNPSDRHVISQAETELQRAAMDASRTSRHLEETINNFERQKMKDIKTIFSEFITIEMLFHGKALEVYTAAYQNIQNIDEDEDLEVFRNSLYAPDYSSRLDIVRANSKSPLQRSLSAKCVSGTGQVSTCRLRKDQQAEDDEDDELDVTEEENFLK", "length": 289, "header": "sp|A1XBS5-1|CBAR1_HUMAN Isoform 1 of CBY1-interacting BAR domain-containing protein 1 OS=Homo sapiens OX=9606 GN=CIBAR1 PE=1 SV=2 CANONICAL=A1XBS5-1" }, "isoforms": [ { "isoform_ac": "A0A0B4J212-1", "url": "", "sequence": { "sequence": "MMRRTLENRNAQTKQLQTAVSNVEKHFGELCQIFAAYVRKTARLRDKADLLVNEINAYAATETPHLKLGLMNFADEFAKLQDYRQAEVERLEAKVVEPLKTYGTIVKMKRDDLKATLTARNREAKQLTQLERTRQRNPSDRHVIVSFEFGSLKKCLRYGVQK", "length": 162, "header": "tr|A0A0B4J212-1|CBAR1_HUMAN Computationally mapped isoform of CBY1-interacting BAR domain-containing protein 1 OS=Homo sapiens OX=9606 GN=CIBAR1 PE=1 SV=1 CANONICAL=A1XBS5-1" }, "locus": { "chromosome": "8", "start_pos": 93705064, "end_pos": 93700648, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000522324.5", "url": "https://www.ensembl.org/id/ENST00000522324.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000430069.1", "url": "https://www.ensembl.org/id/ENSP00000430069.1" } ] } }, { "isoform_ac": "A1XBS5-1", "url": "", "sequence": { "sequence": "MMRRTLENRNAQTKQLQTAVSNVEKHFGELCQIFAAYVRKTARLRDKADLLVNEINAYAATETPHLKLGLMNFADEFAKLQDYRQAEVERLEAKVVEPLKTYGTIVKMKRDDLKATLTARNREAKQLTQLERTRQRNPSDRHVISQAETELQRAAMDASRTSRHLEETINNFERQKMKDIKTIFSEFITIEMLFHGKALEVYTAAYQNIQNIDEDEDLEVFRNSLYAPDYSSRLDIVRANSKSPLQRSLSAKCVSGTGQVSTCRLRKDQQAEDDEDDELDVTEEENFLK", "length": 289, "header": "sp|A1XBS5-1|CBAR1_HUMAN Isoform 1 of CBY1-interacting BAR domain-containing protein 1 OS=Homo sapiens OX=9606 GN=CIBAR1 PE=1 SV=2 CANONICAL=A1XBS5-1" }, "locus": { "chromosome": "8", "start_pos": 93728294, "end_pos": 93700648, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000518322.6", "url": "https://www.ensembl.org/id/ENST00000518322.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000429367.1", "url": "https://www.ensembl.org/id/ENSP00000429367.1" } ] } }, { "isoform_ac": "A1XBS5-2", "url": "", "sequence": { "sequence": "MMRRTLENRNAQTKQLQTAVSNVEKHFGELCQIFAAYVRKTARLRDKADLLVNEINAYAATETPHLKLGLMNFADEFAKLQDYRQAEVERLEAKVVEPLKTYGTIVKMKRDDLKATLTARNREAKQLTQLERTRQRNPSDRHVISQAETELQRAAMDASRTSRHLEETINNFERQKMKDIKVFRNSLYAPDYSSRLDIVRANSKSPLQRSLSAKCVSGTGQVSTCRLRKDQQAEDDEDDELDVTEEENFLK", "length": 251, "header": "sp|A1XBS5-2|CBAR1_HUMAN Isoform 2 of CBY1-interacting BAR domain-containing protein 1 OS=Homo sapiens OX=9606 GN=CIBAR1 PE=1 SV=2 CANONICAL=A1XBS5-1" }, "locus": { "chromosome": "8", "start_pos": 93728294, "end_pos": 93700648, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000423990.6", "url": "https://www.ensembl.org/id/ENST00000423990.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000401774.2", "url": "https://www.ensembl.org/id/ENSP00000401774.2" } ] } }, { "isoform_ac": "A1XBS5-3", "url": "", "sequence": { "sequence": "MMRRTLENRNAQTKQLQTAVSNVEKHFGELCQIFAAYVRKTARLRDKADLLVNEINAYAATETPHLKLGLMNFADEFAKLQDYRQAEVERLEAKVVEPLKTYGTIVKMKRDDLKATLTARNREAKQLTQLERTRQRNPSDRHVISQAETELQRAAMDASRTSRHLEETINNFERQKMKDIKTIFSEFITIEMLFHGKALEVYTAAYQNIQNIDEDEDLEVFRNSLYAPDYSSRLDIVRANSKSPLQRSLSAKCVSGTGQEAGWAATCQTLI", "length": 271, "header": "sp|A1XBS5-3|CBAR1_HUMAN Isoform 3 of CBY1-interacting BAR domain-containing protein 1 OS=Homo sapiens OX=9606 GN=CIBAR1 PE=1 SV=2 CANONICAL=A1XBS5-1" }, "locus": { "chromosome": "8", "start_pos": 93727166, "end_pos": 93700648, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000452913.6", "url": "https://www.ensembl.org/id/ENST00000452913.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000391671.2", "url": "https://www.ensembl.org/id/ENSP00000391671.2" } ] } }, { "isoform_ac": "A1XBS5-4", "url": "", "sequence": { "sequence": "MMRRTLENRNAQTKQLQTAVSNVEKHFGELCQIFAAYVRKTARLRDKADLLVNEINAYAATETPHLKLGLMNFADEFAKLQDYRQAEVERLEAKVVEPLKTYGTIVKMKRDDLKATLTARNREAKQLTQLERTRQRNPSDRHVISQAETELQRAAMDASRTSRHLEETINNFERQKMKDIKTIFSEFITIEMLFHGKALEVYTAAYQNIQNIDEDEDLERWSFAMLPRLVLNSWGSSDPPALASQSVRFSEILCMHQIIHLV", "length": 262, "header": "sp|A1XBS5-4|CBAR1_HUMAN Isoform 4 of CBY1-interacting BAR domain-containing protein 1 OS=Homo sapiens OX=9606 GN=CIBAR1 PE=1 SV=2 CANONICAL=A1XBS5-1" }, "locus": { "chromosome": "8", "start_pos": 93726436, "end_pos": 93700648, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000518116.5", "url": "https://www.ensembl.org/id/ENST00000518116.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000428065.1", "url": "https://www.ensembl.org/id/ENSP00000428065.1" } ] } }, { "isoform_ac": "A1XBS5-5", "url": "", "sequence": { "sequence": "MMRRTLENRNAQTKQLQTAVSNVEKHFGELCQIFAAYVRKTARLRDKADLLVNEINAYAATETPHLKLGLMNFADEFAKLQDYRQAEVWSEITVSLL", "length": 97, "header": "sp|A1XBS5-5|CBAR1_HUMAN Isoform 5 of CBY1-interacting BAR domain-containing protein 1 OS=Homo sapiens OX=9606 GN=CIBAR1 PE=1 SV=2 CANONICAL=A1XBS5-1" }, "locus": {} }, { "isoform_ac": "E5RFH7-1", "url": "", "sequence": { "sequence": "MDASRTSRHLEETINNFERQKMKDIKTIFSEFITIEMLFHGKALEVYTAAYQNIQNIDEDEDLEVFRNSLYAPDYSSRLDIVRANSKSPLQRSLSAKCVSGTGQVSTCRLRKDQQAEDDEDDELDVTEEENFLK", "length": 134, "header": "tr|E5RFH7-1|CBAR1_HUMAN Computationally mapped isoform of CBY1-interacting BAR domain-containing protein 1 OS=Homo sapiens OX=9606 GN=CIBAR1 PE=1 SV=1 CANONICAL=A1XBS5-1" }, "locus": { "chromosome": "8", "start_pos": 93728294, "end_pos": 93709798, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000517718.5", "url": "https://www.ensembl.org/id/ENST00000517718.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000428874.1", "url": "https://www.ensembl.org/id/ENSP00000428874.1" } ] } }, { "isoform_ac": "E5RFS7-1", "url": "", "sequence": { "sequence": "MNFADEFAKLQDYRQAEVERLEAKVVEPLKTYGTIVKMKRDDLKATLTARNREAKQLTQLERTRQ", "length": 65, "header": "tr|E5RFS7-1|E5RFS7_HUMAN Computationally mapped isoform of CBY1 interacting BAR domain containing 1 OS=Homo sapiens OX=9606 GN=CIBAR1 PE=1 SV=1 CANONICAL=A1XBS5-1" }, "locus": { "chromosome": "8", "start_pos": 93704983, "end_pos": 93701408, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000520955.5", "url": "https://www.ensembl.org/id/ENST00000520955.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000427991.1", "url": "https://www.ensembl.org/id/ENSP00000427991.1" } ] } }, { "isoform_ac": "E5RGD0-1", "url": "", "sequence": { "sequence": "MMRRTLENRNAQTKQLQTAVSNVEKHFGELCQIFAAYVRKTARLRDKADLLVNEINAYAATETPHLKLGLMNFADEFAKLQDYRQAEVLMNNDKKVERLEAKVVEPLKTYGTIVKMKRDDLKATLTARNREAKQLTQLERTRQRNPSDRHVISQAETELQRAAMDASR", "length": 168, "header": "tr|E5RGD0-1|E5RGD0_HUMAN Computationally mapped isoform of CBY1 interacting BAR domain containing 1 OS=Homo sapiens OX=9606 GN=CIBAR1 PE=1 SV=1 CANONICAL=A1XBS5-1" }, "locus": { "chromosome": "8", "start_pos": 93709812, "end_pos": 93700648, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000522803.5", "url": "https://www.ensembl.org/id/ENST00000522803.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000428739.1", "url": "https://www.ensembl.org/id/ENSP00000428739.1" } ] } }, { "isoform_ac": "E5RGE3-1", "url": "", "sequence": { "sequence": "MNFADEFAKLQDYRQAEVERLEAKVVEPLKTYGTIVKMKRDDLKATLTARNREAKQLTQLERTRQRNPSDRHVISQAET", "length": 79, "header": "tr|E5RGE3-1|CBAR1_HUMAN Computationally mapped isoform of CBY1-interacting BAR domain-containing protein 1 OS=Homo sapiens OX=9606 GN=CIBAR1 PE=1 SV=1 CANONICAL=A1XBS5-1" }, "locus": { "chromosome": "8", "start_pos": 93709779, "end_pos": 93701408, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000523475.5", "url": "https://www.ensembl.org/id/ENST00000523475.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000430217.1", "url": "https://www.ensembl.org/id/ENSP00000430217.1" } ] } }, { "isoform_ac": "E5RGP4-1", "url": "", "sequence": { "sequence": "MDASRTSRHLEETINNFERQKMKDIKTIFSEFITIEMLFHGKALEVYTAAYQNIQNIDEDEDLEVFRNSLYAPDYSSRLDIVRANSKSPLQRSLSAKCVSGTGQVSKKPYSKGI", "length": 114, "header": "tr|E5RGP4-1|CBAR1_HUMAN Computationally mapped isoform of CBY1-interacting BAR domain-containing protein 1 OS=Homo sapiens OX=9606 GN=CIBAR1 PE=1 SV=1 CANONICAL=A1XBS5-1" }, "locus": { "chromosome": "8", "start_pos": 93726543, "end_pos": 93709798, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000519679.5", "url": "https://www.ensembl.org/id/ENST00000519679.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000429955.1", "url": "https://www.ensembl.org/id/ENSP00000429955.1" } ] } }, { "isoform_ac": "E5RHA4-1", "url": "", "sequence": { "sequence": "MKRDDLKATLTARNREAKQLTQLERTRQRNPSDRHVI", "length": 37, "header": "tr|E5RHA4-1|CBAR1_HUMAN Computationally mapped isoform of CBY1-interacting BAR domain-containing protein 1 OS=Homo sapiens OX=9606 GN=CIBAR1 PE=1 SV=1 CANONICAL=A1XBS5-1" }, "locus": { "chromosome": "8", "start_pos": 93705010, "end_pos": 93703680, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000519135.1", "url": "https://www.ensembl.org/id/ENST00000519135.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000428633.1", "url": "https://www.ensembl.org/id/ENSP00000428633.1" } ] } }, { "isoform_ac": "E5RHK0-1", "url": "", "sequence": { "sequence": "MMRRTLENRNAQTKQLQTAVSNVEKHFGELCQIFAAYVRKTARLRDKADLLVNEINAYAATETPHLKLGLMNFADEFAKLQDYRQAENLKREFQFSKNRMSIKKIELIIAIHTNLKSNHIWRYFWKNVEFLS", "length": 132, "header": "tr|E5RHK0-1|CBAR1_HUMAN Computationally mapped isoform of CBY1-interacting BAR domain-containing protein 1 OS=Homo sapiens OX=9606 GN=CIBAR1 PE=1 SV=1 CANONICAL=A1XBS5-1" }, "locus": { "chromosome": "8", "start_pos": 93702299, "end_pos": 93700648, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000520937.5", "url": "https://www.ensembl.org/id/ENST00000520937.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000429722.1", "url": "https://www.ensembl.org/id/ENSP00000429722.1" } ] } }, { "isoform_ac": "E5RID3-1", "url": "", "sequence": { "sequence": "MNFADEFAKLQDYRQAEVERLEAKVVEPLKTYGTIVKMKRDDLKATLTARNREAKQLTQLERTRQRNPSDRHVISQAETELQRAAMDASRTSRHLEETINNFERQKMKDI", "length": 110, "header": "tr|E5RID3-1|E5RID3_HUMAN Computationally mapped isoform of CBY1 interacting BAR domain containing 1 OS=Homo sapiens OX=9606 GN=CIBAR1 PE=1 SV=1 CANONICAL=A1XBS5-1" }, "locus": { "chromosome": "8", "start_pos": 93709872, "end_pos": 93701408, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000518829.5", "url": "https://www.ensembl.org/id/ENST00000518829.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000428446.1", "url": "https://www.ensembl.org/id/ENSP00000428446.1" } ] } }, { "isoform_ac": "F8W7P5-1", "url": "", "sequence": { "sequence": "MMRRTLENRNAQTKQLQTAVSNVEKHFGELCQIFAAYVRKTARLRDKADLLVNEINAYAATETPHLKLGLMNFADEFAKLQDYRQAEVERLEAKVVEPLKTYGTIVKMKRDDLKATLTARNREAKQLTQLERTRQRNPSDRHVINFEEFSVKRRNIRNLYSLC", "length": 163, "header": "tr|F8W7P5-1|CBAR1_HUMAN Computationally mapped isoform of CBY1-interacting BAR domain-containing protein 1 OS=Homo sapiens OX=9606 GN=CIBAR1 PE=1 SV=1 CANONICAL=A1XBS5-1" }, "locus": { "chromosome": "8", "start_pos": 93707258, "end_pos": 93700648, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000359421.9", "url": "https://www.ensembl.org/id/ENST00000359421.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000352391.5", "url": "https://www.ensembl.org/id/ENSP00000352391.5" } ] } }, { "isoform_ac": "H0YC32-1", "url": "", "sequence": { "sequence": "XKPVTARAQLPRAAHTGGLGNAQTKQLQTAVSNVEKHFGELCQIFAAYVRKTARLRDKADLLVNEINAYAATETPHLKLGLMNFADEFAKLQDYRQAEVERLEAKVVEPLKTYGTIVKMKRDDLKATLTARNREAKQLTQLERTRQRNPSDRHVISQAETELQRAAMDASRTSRHLEETINNFERQKM", "length": 188, "header": "tr|H0YC32-1|H0YC32_HUMAN Computationally mapped isoform of CBY1 interacting BAR domain containing 1 OS=Homo sapiens OX=9606 GN=CIBAR1 PE=1 SV=1 CANONICAL=A1XBS5-1" }, "locus": { "chromosome": "8", "start_pos": 93709864, "end_pos": 93700667, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000523453.5", "url": "https://www.ensembl.org/id/ENST00000523453.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000430812.1", "url": "https://www.ensembl.org/id/ENSP00000430812.1" } ] } } ], "glycosylation": [], "phosphorylation": [], "glycation": [], "keywords": [], "publication": [ { "title": "Identification and characterization of two novel variants of the DUF1208 protein FAM92A1.", "journal": "Mol. Cells", "date": "2007", "authors": "Ruan XZ, Yan F, Zhao XY, Wang CT, Song M, Yang HS, Deng HX, Wei YQ", "evidence": [ { "database": "UniProtKB", "id": "A1XBS5", "url": "https://www.uniprot.org/uniprot/A1XBS5" }, { "database": "RefSeq", "id": "NP_001269963", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269963" } ], "reference": [ { "type": "PubMed", "id": "17646714", "url": "https://glygen.org/publication/PubMed/17646714" } ] }, { "title": "Prokaryotic expression, purification of a new tumor-relative protein FAM92A1-289 and its characterization in renal cell carcinoma.", "journal": "Cancer letters", "date": "2009", "authors": "Liang S, Gong F, Zhao X, Wang X, Shen G, Xu Y, Yang H, Ruan X, Wei Y", "evidence": [ { "database": "RefSeq", "id": "NP_001269963", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269963" } ], "reference": [ { "type": "PubMed", "id": "19059705", "url": "https://glygen.org/publication/PubMed/19059705" } ] }, { "title": "BAR Domain-Containing FAM92 Proteins 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"title": "FAM92A Underlies Nonsyndromic Postaxial Polydactyly in Humans and an Abnormal Limb and Digit Skeletal Phenotype in Mice.", "journal": "Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research", "date": "2019", "authors": "Schrauwen I, Giese AP, Aziz A, Lafont DT, Chakchouk I, Santos-Cortez RLP, Lee K, Acharya A, Khan FS, Ullah A, Nickerson DA, Bamshad MJ, Ali G, Riazuddin S, Ansar M, Ahmad W, Ahmed ZM, Leal SM", "evidence": [ { "database": "UniProtKB", "id": "A1XBS5", "url": "https://www.uniprot.org/uniprot/A1XBS5" }, { "database": "RefSeq", "id": "NP_001269963", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269963" } ], "reference": [ { "type": "PubMed", "id": "30395363", "url": "https://glygen.org/publication/PubMed/30395363" } ] }, { "title": "FAM92A1 is a BAR domain protein required for mitochondrial ultrastructure and function.", "journal": "The Journal of cell biology", "date": "2019", "authors": "Wang L, Yan 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