{ "uniprot_canonical_ac": "O00512-1", "uniprot_ac": "O00512", "uniprot_id": "BCL9_HUMAN", "mass": { "chemical_mass": 149290.0, "monoisotopic_mass": 149290.0 }, "refseq": { "ac": "NP_004317", "name": "B-cell CLL/lymphoma 9 protein", "summary": "BCL9 is associated with B-cell acute lymphoblastic leukemia. It may be a target of translocation in B-cell malignancies with abnormalities of 1q21. Its function is unknown. The overexpression of BCL9 may be of pathogenic significance in B-cell malignancies. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004317" }, "gene_names": [ { "name": "BCL9", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O00512", "id": "O00512" }, { "name": "BCL9", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004317", "id": "NP_004317" }, { "name": "LGS", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004317", "id": "NP_004317" } ], "protein_names": [ { "name": "B-cell CLL/lymphoma 9 protein", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O00512" }, { "name": "B-cell CLL/lymphoma 9 protein", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004317", "id": "NP_004317" }, { "name": "B-cell lymphoma 9 protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00512" }, { "name": "Bcl-9", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00512" }, { "name": "Protein legless homolog", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00512" }, { "name": "bcl-9; protein legless homolog; B-cell lymphoma 9 protein; B cell CLL/lymphoma 9", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004317", "id": "NP_004317" } ], "function": [ { "annotation": "BCL9 is associated with B-cell acute lymphoblastic leukemia. It may be a target of translocation in B-cell malignancies with abnormalities of 1q21. Its function is unknown. The overexpression of BCL9 may be of pathogenic significance in B-cell malignancies. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_004317", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004317" } ] }, { "annotation": "Evidence for frequent concurrent DCUN1D1, FGFR1, BCL9 gene copy number amplification in squamous cell lung cancer.", "evidence": [ { "database": "RefSeq", "id": "NP_004317", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004317" }, { "database": "PubMed", "id": "33862557", "url": "https://glygen.org/publication/PubMed/33862557" } ] }, { "annotation": "Hypoxia-inducible factor 1alpha induces osteo/odontoblast differentiation of human dental pulp stem cells via Wnt/beta-catenin transcriptional cofactor BCL9. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_004317", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004317" }, { "database": "PubMed", "id": "35027586", "url": "https://glygen.org/publication/PubMed/35027586" } ] }, { "annotation": "Involved in signal transduction through the Wnt pathway. 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"description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "No", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O00512", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00512" } ], "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 of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "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": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O00512", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00512" } ], "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": 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"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": "O00512", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00512" } ], "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", 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"malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O00512", "url": "https://www.uniprot.org/uniprot/O00512" } ], "common_name": "Human" } ], "gene": [ { "name": "BCL9", "url": "https://www.uniprot.org/uniprot/O00512", "locus": { "chromosome": "1", "start_pos": 147626216, "end_pos": 147541501, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000116128", "url": "https://www.ensembl.org/id/ENSG00000116128" } ] } } ], "crossref": [ { "id": "ENSG00000116128", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000116128", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "O00512", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O00512", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "CHEMBL3712821", "url": "https://www.ebi.ac.uk/chembldb/target/inspect/CHEMBL3712821", "database": "ChEMBL", "categories": [ "Other" ] }, { "id": "BCL9", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=BCL9", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "607", "url": "https://www.ncbi.nlm.nih.gov/gene/607", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "1008", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=1008", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "O00512", "url": "https://www.ebi.ac.uk/intact/interactors/id:O00512*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR013083", "url": "https://www.ebi.ac.uk/interpro/entry/IPR013083", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR015668", "url": "https://www.ebi.ac.uk/interpro/entry/IPR015668", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR024670", "url": "https://www.ebi.ac.uk/interpro/entry/IPR024670", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:607", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:607", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "602597", "url": "http://www.omim.org/entry/602597", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O00512", "url": "https://www.nextprot.org/entry/NX_O00512", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "O00512", "url": "https://oglcnac.org/atlas/detail/O00512", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "O00512", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O00512", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "ECNSTEH", "url": "https://omabrowser.org/oma/group/ECNSTEH/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "4259564at2759", "url": "http://www.orthodb.org/?query=4259564at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR15185", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR15185", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR15185:SF5", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR15185:SF5", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "2GL7", "url": "https://www.rcsb.org/structure/2GL7", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "2VP7", "url": "https://www.rcsb.org/structure/2VP7", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "2VPB", "url": "https://www.rcsb.org/structure/2VPB", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "2VPD", "url": "https://www.rcsb.org/structure/2VPD", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "2VPE", "url": "https://www.rcsb.org/structure/2VPE", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "2VPG", "url": "https://www.rcsb.org/structure/2VPG", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3SL9", "url": "https://www.rcsb.org/structure/3SL9", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF11502", "url": "http://pfam.xfam.org/family/PF11502", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O00512", "url": "https://pharos.nih.gov/targets/O00512", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O00512", "url": "http://purl.obolibrary.org/obo/PR_O00512", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-201722", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201722", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-3769402", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3769402", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_004317", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004317", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "A0A804HI55", "url": "https://www.uniprot.org/uniprot/A0A804HI55", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A804HI55-1", "url": "https://www.uniprot.org/uniprot/A0A804HI55-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A804HIV1", "url": "https://www.uniprot.org/uniprot/A0A804HIV1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A804HIV1-1", "url": "https://www.uniprot.org/uniprot/A0A804HIV1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O00512", "url": "https://www.uniprot.org/uniprot/O00512", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O00512-1", "url": "https://www.uniprot.org/uniprot/O00512-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MHSSNPKVRSSPSGNTQSSPKSKQEVMVRPPTVMSPSGNPQLDSKFSNQGKQGGSASQSQPSPCDSKSGGHTPKALPGPGGSMGLKNGAGNGAKGKGKRERSISADSFDQRDPGTPNDDSDIKECNSADHIKSQDSQHTPHSMTPSNATAPRSSTPSHGQTTATEPTPAQKTPAKVVYVFSTEMANKAAEAVLKGQVETIVSFHIQNISNNKTERSTAPLNTQISALRNDPKPLPQQPPAPANQDQNSSQNTRLQPTPPIPAPAPKPAAPPRPLDRESPGVENKLIPSVGSPASSTPLPPDGTGPNSTPNNRAVTPVSQGSNSSSADPKAPPPPPVSSGEPPTLGENPDGLSQEQLEHRERSLQTLRDIQRMLFPDEKEFTGAQSGGPQQNPGVLDGPQKKPEGPIQAMMAQSQSLGKGPGPRTDVGAPFGPQGHRDVPFSPDEMVPPSMNSQSGTIGPDHLDHMTPEQIAWLKLQQEFYEEKRRKQEQVVVQQCSLQDMMVHQHGPRGVVRGPPPPYQMTPSEGWAPGGTEPFSDGINMPHSLPPRGMAPHPNMPGSQMRLPGFAGMINSEMEGPNVPNPASRPGLSGVSWPDDVPKIPDGRNFPPGQGIFSGPGRGERFPNPQGLSEEMFQQQLAEKQLGLPPGMAMEGIRPSMEMNRMIPGSQRHMEPGNNPIFPRIPVEGPLSPSRGDFPKGIPPQMGPGRELEFGMVPSGMKGDVNLNVNMGSNSQMIPQKMREAGAGPEEMLKLRPGGSDMLPAQQKMVPLPFGEHPQQEYGMGPRPFLPMSQGPGSNSGLRNLREPIGPDQRTNSRLSHMPPLPLNPSSNPTSLNTAPPVQRGLGRKPLDISVAGSQVHSPGINPLKSPTMHQVQSPMLGSPSGNLKSPQTPSQLAGMLAGPAAAASIKSPPVLGSAAASPVHLKSPSLPAPSPGWTSSPKPPLQSPGIPPNHKAPLTMASPAMLGNVESGGPPPPTASQPASVNIPGSLPSSTPYTMPPEPTLSQNPLSIMMSRMSKFAMPSSTPLYHDAIKTVASSDDDSPPARSPNLPSMNNMPGMGINTQNPRISGPNPVVPMPTLSPMGMTQPLSHSNQMPSPNAVGPNIPPHGVPMGPGLMSHNPIMGHGSQEPPMVPQGRMGFPQGFPPVQSPPQQVPFPHNGPSGGQGSFPGGMGFPGEGPLGRPSNLPQSSADAALCKPGGPGGPDSFTVLGNSMPSVFTDPDLQEVIRPGATGIPEFDLSRIIPSEKPSQTLQYFPRGEVPGRKQPQGPGPGFSHMQGMMGEQAPRMGLALPGMGGPGPVGTPDIPLGTAPSMPGHNPMRPPAFLQQGMMGPHHRMMSPAQSTMPGQPTLMSNPAAAVGMIPGKDRGPAGLYTHPGPVGSPGMMMSMQGMMGPQQNIMIPPQMRPRGMAADVGMGGFSQGPGNPGNMMF", "length": 1426, "header": "sp|O00512-1|BCL9_HUMAN Isoform 1 of B-cell CLL/lymphoma 9 protein OS=Homo sapiens OX=9606 GN=BCL9 PE=1 SV=4 CANONICAL=O00512-1" }, "isoforms": [ { "isoform_ac": "A0A804HI55-1", "url": "", "sequence": { "sequence": "MHSSNPKVRSSPSGNTQSSPKSKQEVMVRPPTVMSPSGNPQLDSKFSNQGKQGGSASQSQPSPCDSKSGGHTPKALPGPGGSMGLKNGAGNGAKGKGKRERSISADSFDQRDPGTPNDDSDIKECNSADHIKSQDSQHTPHSMTPSNATAPRSSTPSHGQTTATEPTPAQKTPAKVVYVFSTEMANKAAEAVLKGQVETIVSFHIQNISNNKTERSTAPLNTQISALRNDPKPLPQQPPAPANQDQNSSQNTRLQPTPPIPAPAPKPAAPPRPLDRESPGVENKLIPSVGSPASSTPLPPDGTGPNSTPNNRAVTPVSQGSNSSSADPKAPPPPPVSSGEPPTLGENPDGLSQEQLEHRERSLQTLRDIQRMLFPDEKEFTGAQSGGPQQNPGVLDGPQKKPEGPIQAMMAQSQSLGKGPGPRTDVGAPFGPQGHRDVPFSPDEMVPPSMNSQSGTIGPDHLDHMTPEQIAWLKLQQEFYEEKRRKQEQVVVQQCSLQDMMVHQHGPRGVVRGPPPPYQMTPSEGWAPGGTEPFSDGINMPHSLPPRGMAPHPNMPGSQMRLPGFAGMINSEMEGPNVPNPASRPGLSGVSWPDDVPKIPDGRNFPPGQGIFSGPGRGERFPNPQGLSEEMFQQQLAEKQLGLPPGMAMEGIRPSMEMNRMIPGSQRHMEPGNNPIFPRIPVEGPLSPSRGDFPKGIPPQMGPGRELEFGMVPSGMKGDVNLNVNMGSNSQMIPQKMREAGAGPEEMLKLRPGGSDMLPAQQKMVPLPFGEHPQQEYGMGPRPFLPMSQGPGSNSGLRNLREPIGPDQRTNSRLSHMPPLPLNPSSNPTSLNTAPPVQRGLGRKPLDISVAGSQVHSPGINPLKSPTMHQVQSPMLGSPSGNLKSPQTPSQLAGMLAGPAAAASIKSPPVLGSAAASPVHLKSPSLPAPSPGWTSSPKPPLQSPGIPPNHKAPLTMASPAMLGNVESGGPPPPTASQPASVNIPGSLPSSTPYTMPPEPTLSQNPLSIMMSRMSKFAMPSSTPLYHDAIKTVASSDDDSPPARSPNLPSMNNMPGPNPVVPMPTLSPMGMTQPLSHSNQMPSPNAVGPNIPPHGVPMGPGLMSHNPIMGHGSQEPPMVPQGRMGFPQGFPPVQSPPQQVPFPHNGPSGGQGSFPGGMGFPGEGPLGRPSNLPQSSADAALCKPGGPGGPDSFTVLGNSMPSVFTDPDLQEVIRPGATGIPEFDLSRIIPSEKPSQTLQYFPRGEVPGRKQPQGPGPGFSHMQGMMGEQAPRMGLALPGMGGPGPVGTPDIPLGTAPSMPGHNPMRPPAFLQQGMMGPHHRMMSPAQSTMPGQPTLMSNPAAAVGMIPGKDRGPAGLYTHPGPVGSPGMMMSMQGMMGPQQNIMIPPQMRPRGMAADVGMGGFSQGPGNPGNMMF", "length": 1414, "header": "tr|A0A804HI55-1|A0A804HI55_HUMAN Computationally mapped isoform of BCL9 transcription coactivator OS=Homo sapiens OX=9606 GN=BCL9 PE=1 SV=1 CANONICAL=O00512-1" }, "locus": { "chromosome": "1", "start_pos": 147624956, "end_pos": 147611837, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000683836.1", "url": "https://www.ensembl.org/id/ENST00000683836.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000506908.1", "url": "https://www.ensembl.org/id/ENSP00000506908.1" } ] } }, { "isoform_ac": "A0A804HIV1-1", "url": "", "sequence": { "sequence": "MHSSNPKVRSSPSGNTQSSPKSKQEVMVRPPTVMSPSGNPQLDSKFSNQECNSADHIKSQDSQHTPHSMTPSNATAPRSSTPSHGQTTATEPTPAQKTPAKVVYVFSTEMANKAAEAVLKGQVETIVSFHIQNISNNKTERSTAPLNTQISALRNDPKPLPQQPPAPANQDQNSSQNTRLQPTPPIPAPAPKPAAPPRPLDRESPGVENKLIPSVGSPASSTPLPPDGTGPNSTPNNRAVTPVSQGSNSSSADPKAPPPPPVSSGEPPTLGENPDGLSQEQLEHRERSLQTLRDIQRMLFPDEKEFTGAQSGGPQQNPGVLDGPQKKPEGPIQAMMAQSQSLGKGPGPRTDVGAPFGPQGHRDVPFSPDEMVPPSMNSQSGTIGPDHLDHMTPEQIAWLKLQQEFYEEKRRKQEQVVVQQCSLQDMMVHQHGPRGVVRGPPPPYQMTPSEGWAPGGTEPFSDGINMPHSLPPRGMAPHPNMPGSQMRLPGFAGMINSEMEGPNVPNPASRPGLSGVSWPDDVPKIPDGRNFPPGQGIFSGPGRGERFPNPQGLSEEMFQQQLAEKQLGLPPGMAMEGIRPSMEMNRMIPGSQRHMEPGNNPIFPRIPVEGPLSPSRGDFPKGIPPQMGPGRELEFGMVPSGMKGDVNLNVNMGSNSQMIPQKMREAGAGPEEMLKLRPGGSDMLPAQQKMVPLPFGEHPQQEYGMGPRPFLPMSQGPGSNSGLRNLREPIGPDQRTNSRLSHMPPLPLNPSSNPTSLNTAPPVQRGLGRKPLDISVAGSQVHSPGINPLKSPTMHQVQSPMLGSPSGNLKSPQTPSQLAGMLAGPAAAASIKSPPVLGSAAASPVHLKSPSLPAPSPGWTSSPKPPLQSPGIPPNHKAPLTMASPAMLGNVESGGPPPPTASQPASVNIPGSLPSSTPYTMPPEPTLSQNPLSIMMSRMSKFAMPSSTPLYHDAIKTVASSDDDSPPARSPNLPSMNNMPGMGINTQNPRISGPNPVVPMPTLSPMGMTQPLSHSNQMPSPNAVGPNIPPHGVPMGPGLMSHNPIMGHGSQEPPMVPQGRMGFPQGFPPVQSPPQQVPFPHNGPSGGQGSFPGGMGFPGEGPLGRPSNLPQSSADAALCKPGGPGGPDSFTVLGNSMPSVFTDPDLQEVIRPGATGIPEFDLSRIIPSEKPSQTLQYFPRGEVPGRKQPQGPGPGFSHMQGMMGEQAPRMGLALPGMGGPGPVGTPDIPLGTAPSMPGHNPMRPPAFLQQGMMGPHHRMMSPAQSTMPGQPTLMSNPAAAVGMIPGKDRGPAGLYTHPGPVGSPGMMMSMQGMMGPQQNIMIPPQMRPRGMAADVGMGGFSQGPGNPGNMMF", "length": 1352, "header": "tr|A0A804HIV1-1|BCL9_HUMAN Computationally mapped isoform of B-cell CLL/lymphoma 9 protein OS=Homo sapiens OX=9606 GN=BCL9 PE=1 SV=1 CANONICAL=O00512-1" }, "locus": { "chromosome": "1", "start_pos": 147624956, "end_pos": 147611837, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000684121.1", "url": "https://www.ensembl.org/id/ENST00000684121.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000507238.1", "url": "https://www.ensembl.org/id/ENSP00000507238.1" } ] } }, { "isoform_ac": "O00512-1", "url": "", "sequence": { "sequence": "MHSSNPKVRSSPSGNTQSSPKSKQEVMVRPPTVMSPSGNPQLDSKFSNQGKQGGSASQSQPSPCDSKSGGHTPKALPGPGGSMGLKNGAGNGAKGKGKRERSISADSFDQRDPGTPNDDSDIKECNSADHIKSQDSQHTPHSMTPSNATAPRSSTPSHGQTTATEPTPAQKTPAKVVYVFSTEMANKAAEAVLKGQVETIVSFHIQNISNNKTERSTAPLNTQISALRNDPKPLPQQPPAPANQDQNSSQNTRLQPTPPIPAPAPKPAAPPRPLDRESPGVENKLIPSVGSPASSTPLPPDGTGPNSTPNNRAVTPVSQGSNSSSADPKAPPPPPVSSGEPPTLGENPDGLSQEQLEHRERSLQTLRDIQRMLFPDEKEFTGAQSGGPQQNPGVLDGPQKKPEGPIQAMMAQSQSLGKGPGPRTDVGAPFGPQGHRDVPFSPDEMVPPSMNSQSGTIGPDHLDHMTPEQIAWLKLQQEFYEEKRRKQEQVVVQQCSLQDMMVHQHGPRGVVRGPPPPYQMTPSEGWAPGGTEPFSDGINMPHSLPPRGMAPHPNMPGSQMRLPGFAGMINSEMEGPNVPNPASRPGLSGVSWPDDVPKIPDGRNFPPGQGIFSGPGRGERFPNPQGLSEEMFQQQLAEKQLGLPPGMAMEGIRPSMEMNRMIPGSQRHMEPGNNPIFPRIPVEGPLSPSRGDFPKGIPPQMGPGRELEFGMVPSGMKGDVNLNVNMGSNSQMIPQKMREAGAGPEEMLKLRPGGSDMLPAQQKMVPLPFGEHPQQEYGMGPRPFLPMSQGPGSNSGLRNLREPIGPDQRTNSRLSHMPPLPLNPSSNPTSLNTAPPVQRGLGRKPLDISVAGSQVHSPGINPLKSPTMHQVQSPMLGSPSGNLKSPQTPSQLAGMLAGPAAAASIKSPPVLGSAAASPVHLKSPSLPAPSPGWTSSPKPPLQSPGIPPNHKAPLTMASPAMLGNVESGGPPPPTASQPASVNIPGSLPSSTPYTMPPEPTLSQNPLSIMMSRMSKFAMPSSTPLYHDAIKTVASSDDDSPPARSPNLPSMNNMPGMGINTQNPRISGPNPVVPMPTLSPMGMTQPLSHSNQMPSPNAVGPNIPPHGVPMGPGLMSHNPIMGHGSQEPPMVPQGRMGFPQGFPPVQSPPQQVPFPHNGPSGGQGSFPGGMGFPGEGPLGRPSNLPQSSADAALCKPGGPGGPDSFTVLGNSMPSVFTDPDLQEVIRPGATGIPEFDLSRIIPSEKPSQTLQYFPRGEVPGRKQPQGPGPGFSHMQGMMGEQAPRMGLALPGMGGPGPVGTPDIPLGTAPSMPGHNPMRPPAFLQQGMMGPHHRMMSPAQSTMPGQPTLMSNPAAAVGMIPGKDRGPAGLYTHPGPVGSPGMMMSMQGMMGPQQNIMIPPQMRPRGMAADVGMGGFSQGPGNPGNMMF", "length": 1426, "header": "sp|O00512-1|BCL9_HUMAN Isoform 1 of B-cell CLL/lymphoma 9 protein OS=Homo sapiens OX=9606 GN=BCL9 PE=1 SV=4 CANONICAL=O00512-1" }, "locus": { "chromosome": "1", "start_pos": 147624956, "end_pos": 147611837, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000234739.8", "url": "https://www.ensembl.org/id/ENST00000234739.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000234739.3", "url": "https://www.ensembl.org/id/ENSP00000234739.3" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 318, "start_aa": "Ser", "end_pos": 318, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser318", "evidence": [ { "id": "O00512", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O00512" }, { "id": "23301498", "database": 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formation.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Sakamoto I, Kishida S, Fukui A, Kishida M, Yamamoto H, Hino S, Michiue T, Takada S, Asashima M, Kikuchi A", "evidence": [ { "database": "Reactome", "id": "R-HSA-3769402", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3769402" } ], "reference": [ { "type": "PubMed", "id": "10921920", "url": "https://glygen.org/publication/PubMed/10921920" } ] }, { "title": "Inhibition of Wnt signaling pathway by a novel axin-binding protein.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Kadoya T, Kishida S, Fukui A, Hinoi T, Michiue T, Asashima M, Kikuchi A", "evidence": [ { "database": "Reactome", "id": "R-HSA-3769402", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3769402" } ], "reference": [ { "type": "PubMed", "id": "10944533", "url": "https://glygen.org/publication/PubMed/10944533" } ] }, { "title": "Regulation of beta -catenin transformation by the p300 transcriptional coactivator.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2000", "authors": "Sun Y, Kolligs FT, Hottiger MO, Mosavin R, Fearon ER, Nabel GJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-201722", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201722" } ], "reference": [ { "type": "PubMed", "id": "11050151", "url": "https://glygen.org/publication/PubMed/11050151" } ] }, { "title": "Pontin52 and reptin52 function as antagonistic regulators of beta-catenin signalling activity.", "journal": "The EMBO journal", "date": "2000", "authors": "Bauer A, Chauvet S, Huber O, Usseglio F, Rothbacher U, Aragnol D, Kemler R, Pradel J", "evidence": [ { "database": "Reactome", "id": "R-HSA-201722", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201722" } ], "reference": [ { "type": "PubMed", "id": "11080158", "url": "https://glygen.org/publication/PubMed/11080158" } ] }, { "title": "Crystal structure of a 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"journal": "Nucleic acids research", "date": "2001", "authors": "Takash W, Canizares J, Bonneaud N, Poulat F, Mattei MG, Jay P, Berta P", "evidence": [ { "database": "Reactome", "id": "R-HSA-3769402", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3769402" } ], "reference": [ { "type": "PubMed", "id": "11691915", "url": "https://glygen.org/publication/PubMed/11691915" } ] }, { "title": "Structure of a human Tcf4-beta-catenin complex.", "journal": "Nature structural biology", "date": "2001", "authors": "Poy F, Lepourcelet M, Shivdasani RA, Eck MJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-201722", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201722" } ], "reference": [ { "type": "PubMed", "id": "11713476", "url": "https://glygen.org/publication/PubMed/11713476" } ] }, { "title": "TCF: Lady Justice casting the final verdict on the outcome of Wnt signalling.", "journal": "Biological chemistry", "date": "2002", "authors": "Brantjes H, Barker N, van Es J, 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"date": "2002", "authors": "Wolf D, Rodova M, Miska EA, Calvet JP, Kouzarides T", "evidence": [ { "database": "Reactome", "id": "R-HSA-201722", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201722" } ], "reference": [ { "type": "PubMed", "id": "11973335", "url": "https://glygen.org/publication/PubMed/11973335" } ] }, { "title": "A new nuclear component of the Wnt signalling pathway.", "journal": "Nature cell biology", "date": "2002", "authors": "Thompson B, Townsley F, Rosin-Arbesfeld R, Musisi H, Bienz M", "evidence": [ { "database": "Reactome", "id": "R-HSA-201722", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201722" } ], "reference": [ { "type": "PubMed", "id": "11988739", "url": "https://glygen.org/publication/PubMed/11988739" } ] }, { "title": "pygopus Encodes a nuclear protein essential for wingless/Wnt signaling.", "journal": "Development (Cambridge, England)", "date": "2002", "authors": "Belenkaya TY, Han C, Standley HJ, Lin X, Houston DW, Heasman J, Lin X", "evidence": [ { "database": "Reactome", "id": "R-HSA-201722", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201722" } ], "reference": [ { "type": "PubMed", "id": "12163411", "url": "https://glygen.org/publication/PubMed/12163411" } ] }, { "title": "The crystal structure of the beta-catenin/ICAT complex reveals the inhibitory mechanism of ICAT.", "journal": "Molecular cell", "date": "2002", "authors": "Graham TA, Clements WK, Kimelman D, Xu W", "evidence": [ { "database": "Reactome", "id": "R-HSA-3769402", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3769402" } ], "reference": [ { "type": "PubMed", "id": "12408824", "url": "https://glygen.org/publication/PubMed/12408824" } ] }, { "title": "ICAT inhibits beta-catenin binding to Tcf/Lef-family transcription factors and the general coactivator p300 using independent structural modules.", "journal": "Molecular cell", "date": "2002", "authors": "Daniels DL, Weis WI", "evidence": [ { "database": "Reactome", "id": 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