{ "uniprot_canonical_ac": "O00213-1", "uniprot_ac": "O00213", "uniprot_id": "APBB1_HUMAN", "mass": { "chemical_mass": 77244.0, "monoisotopic_mass": 77244.0 }, "refseq": { "ac": "NP_001155", "name": "amyloid beta precursor protein binding family B member 1 isoform a", "summary": "The protein encoded by this gene is a member of the Fe65 protein family. It is an adaptor protein localized in the nucleus. It interacts with the Alzheimer's disease amyloid precursor protein (APP), transcription factor CP2/LSF/LBP1 and the low-density lipoprotein receptor-related protein. APP functions as a cytosolic anchoring site that can prevent the gene product's nuclear translocation. This encoded protein could play an important role in the pathogenesis of Alzheimer's disease. It is thought to regulate transcription. Also it is observed to block cell cycle progression by downregulating thymidylate synthase expression. Multiple alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Mar 2012].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001155" }, "gene_names": [ { "name": "APBB1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O00213", "id": "O00213" }, { "name": "APBB1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001155", "id": "NP_001155" }, { "name": "FE65; MGC:9072; RIR", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001155", "id": "NP_001155" }, { "name": "FE65", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O00213", "id": "O00213" }, { "name": "RIR", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O00213", "id": "O00213" } ], "protein_names": [ { "name": "Amyloid beta precursor protein binding family B member 1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O00213" }, { "name": "Amyloid-beta A4 precursor protein-binding family B member 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00213" }, { "name": "Protein Fe65", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00213" }, { "name": "amyloid beta precursor protein binding family B member 1 isoform a", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001155", "id": "NP_001155" }, { "name": "stat-like protein; adaptor protein FE65a2; amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001155", "id": "NP_001155" } ], "function": [ { "annotation": "Abeta40 Promotes the Osteoblastic Differentiation of Aortic Valve Interstitial Cells through the RAGE Pathway.", "evidence": [ { "database": "RefSeq", "id": "NP_001155", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001155" }, { "database": "PubMed", "id": "33123906", "url": "https://glygen.org/publication/PubMed/33123906" } ] }, { "annotation": "Alpha-secretase dependent nuclear localization of the amyloid-beta precursor protein-binding protein Fe65 promotes DNA repair.", "evidence": [ { "database": "RefSeq", "id": "NP_001155", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001155" }, { "database": "PubMed", "id": "37918552", "url": "https://glygen.org/publication/PubMed/37918552" } ] }, { "annotation": "The protein encoded by this gene is a member of the Fe65 protein family. It is an adaptor protein localized in the nucleus. It interacts with the Alzheimer's disease amyloid precursor protein (APP), transcription factor CP2/LSF/LBP1 and the low-density lipoprotein receptor-related protein. APP functions as a cytosolic anchoring site that can prevent the gene product's nuclear translocation. This encoded protein could play an important role in the pathogenesis of Alzheimer's disease. It is thought to regulate transcription. Also it is observed to block cell cycle progression by downregulating thymidylate synthase expression. Multiple alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Mar 2012].", "evidence": [ { "database": "RefSeq", "id": "NP_001155", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001155" } ] }, { "annotation": "Transcription coregulator that can have both coactivator and corepressor functions (PubMed:15031292, PubMed:18468999, PubMed:18922798, PubMed:25342469, PubMed:33938178). Adapter protein that forms a transcriptionally active complex with the gamma-secretase-derived amyloid precursor protein (APP) intracellular domain (PubMed:15031292, PubMed:18468999, PubMed:18922798, PubMed:25342469). Plays a central role in the response to DNA damage by translocating to the nucleus and inducing apoptosis (PubMed:15031292, PubMed:18468999, PubMed:18922798, PubMed:25342469). May act by specifically recognizing and binding histone H2AX phosphorylated on 'Tyr-142' (H2AXY142ph) at double-strand breaks (DSBs), recruiting other pro-apoptosis factors such as MAPK8/JNK1 (PubMed:19234442). Required for histone H4 acetylation at double-strand breaks (DSBs) (PubMed:19234442). Its ability to specifically bind modified histones and chromatin modifying enzymes such as KAT5/TIP60, probably explains its transcription activation activity (PubMed:33938178). Functions in association with TSHZ3, SET and HDAC factors as a transcriptional repressor, that inhibits the expression of CASP4 (PubMed:19343227). Associates with chromatin in a region surrounding the CASP4 transcriptional start site(s) (PubMed:19343227). Involved in hippocampal neurite branching and neuromuscular junction formation, as a result plays a role in spatial memory functioning (By similarity). Plays a role in the maintenance of lens transparency (By similarity). May play a role in muscle cell strength (By similarity). Acts as a molecular adapter that functions in neurite outgrowth by activating the RAC1-ARF6 axis upon insulin treatment (PubMed:36250347).", "evidence": [ { "database": "UniProtKB", "id": "O00213", "url": "https://www.uniprot.org/uniprot/O00213#function" }, { "database": "PubMed", "id": "19234442", "url": "https://glygen.org/publication/PubMed/19234442" }, { "database": "UniProtKB", "id": "Q9QXJ1", "url": "https://www.uniprot.org/uniprot/Q9QXJ1#function" }, { "database": "PubMed", "id": "25342469", "url": "https://glygen.org/publication/PubMed/25342469" }, { "database": "PubMed", "id": "19343227", "url": "https://glygen.org/publication/PubMed/19343227" }, { "database": "PubMed", "id": "18922798", "url": "https://glygen.org/publication/PubMed/18922798" }, { "database": "PubMed", "id": "33938178", "url": "https://glygen.org/publication/PubMed/33938178" }, { "database": "PubMed", "id": "18468999", "url": "https://glygen.org/publication/PubMed/18468999" }, { "database": "PubMed", "id": "15031292", "url": "https://glygen.org/publication/PubMed/15031292" }, { "database": "PubMed", "id": "36250347", "url": "https://glygen.org/publication/PubMed/36250347" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "O00213", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O00213" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 10, "end_pos": 10, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "L", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "11", "chr_pos": "6411319", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S10", "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": "" } ] }, { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ] }, { "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" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs572432118", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs572432118" }, { "id": "rs572432118", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs572432118" }, { "id": "rs572432118", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs572432118" }, { "id": "rs572432118", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs572432118" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 131, "end_pos": 131, "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NRG->NRS).", "chr_id": "11", "chr_pos": "6410957", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.000399", "site_lbl": "G131", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1590788457", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1590788457" }, { "id": "rs1590788457", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1590788457" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 138, "end_pos": 138, "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (IIS->NIS).", "chr_id": "11", "chr_pos": "6410935", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I138", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1303250687", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1303250687" }, { "id": "rs1303250687", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1303250687" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 15, "end_pos": 15, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NAN->NAS).", "chr_id": "11", "chr_pos": "6411304", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N15", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1303250687", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1303250687" }, { "id": "rs1303250687", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1303250687" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 15, "end_pos": 15, "sequence_org": "N", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NAN->NAT).", "chr_id": "11", "chr_pos": "6411304", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N15", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1048431765", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1048431765" }, { "id": "rs1048431765", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1048431765#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 203, "end_pos": 203, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SKS->NKS).", "chr_id": "11", "chr_pos": "6410740", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S203", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs940658222", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs940658222" }, { "id": "rs940658222", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs940658222#frequency_tab" }, { "id": "rs940658222", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs940658222" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 301, "end_pos": 301, "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (TWT->NWT).", "chr_id": "11", "chr_pos": "6403540", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T301", 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"subjects_positive": "0", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "11", "chr_pos": "6401630", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R483", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. 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"https://www.uniprot.org/uniprot/O00213" }, { "database": "PubMed", "id": "15031292", "url": "https://glygen.org/publication/PubMed/15031292" } ] }, { "start_pos": 459, "end_pos": 459, "sequence_org": "S", "sequence_mut": "A", "comment": "Loss of PKC-mediated phosphorylation.", "evidence": [ { "database": "UniProtKB", "id": "O00213", "url": "https://www.uniprot.org/uniprot/O00213" }, { "database": "PubMed", "id": "36250347", "url": "https://glygen.org/publication/PubMed/36250347" } ] }, { "start_pos": 459, "end_pos": 459, "sequence_org": "S", "sequence_mut": "E", "comment": "Increased activation of the RAC1-ARF6 axis.", "evidence": [ { "database": "UniProtKB", "id": "O00213", "url": "https://www.uniprot.org/uniprot/O00213" }, { "database": "PubMed", "id": "36250347", "url": "https://glygen.org/publication/PubMed/36250347" } ] }, { "start_pos": 467, "end_pos": 467, "sequence_org": "Y", "sequence_mut": "F", "comment": "No effect on phosphorylation by ABL1.", "evidence": [ { "database": "UniProtKB", "id": "O00213", "url": "https://www.uniprot.org/uniprot/O00213" }, { "database": "PubMed", "id": "15031292", "url": "https://glygen.org/publication/PubMed/15031292" } ] }, { "start_pos": 546, "end_pos": 546, "sequence_org": "Y", "sequence_mut": "F", "comment": "No effect on phosphorylation by ABL1.", "evidence": [ { "database": "UniProtKB", "id": "O00213", "url": "https://www.uniprot.org/uniprot/O00213" }, { "database": "PubMed", "id": "15031292", "url": "https://glygen.org/publication/PubMed/15031292" } ] }, { "start_pos": 547, "end_pos": 547, "sequence_org": "Y", "sequence_mut": "F", "comment": "Abrogates phosphorylation and stimulation of transcription by ABL1, and increases the interaction with RASD1/DEXRAS1.", "evidence": [ { "database": "UniProtKB", "id": "O00213", "url": "https://www.uniprot.org/uniprot/O00213" }, { "database": "PubMed", "id": "18922798", "url": "https://glygen.org/publication/PubMed/18922798" }, { "database": "PubMed", "id": "15031292", "url": "https://glygen.org/publication/PubMed/15031292" } ] }, { "start_pos": 658, "end_pos": 658, "sequence_org": "Y", "sequence_mut": "F", "comment": "No effect on phosphorylation by ABL1.", "evidence": [ { "database": "UniProtKB", "id": "O00213", "url": "https://www.uniprot.org/uniprot/O00213" }, { "database": "PubMed", "id": "15031292", "url": "https://glygen.org/publication/PubMed/15031292" } ] }, { "start_pos": 701, "end_pos": 701, "sequence_org": "K", "sequence_mut": "Q", "comment": "Mimics acetylation; leading to increased transcription activator activity; when associated with Q-204.", "evidence": [ { "database": "UniProtKB", "id": "O00213", "url": "https://www.uniprot.org/uniprot/O00213" }, { "database": "PubMed", "id": "33938178", "url": "https://glygen.org/publication/PubMed/33938178" } ] }, { "start_pos": 701, "end_pos": 701, "sequence_org": "K", "sequence_mut": "R", "comment": "Abolished acetylation by KAT5, leading to decreased transcription activator activity; when associated with R-204.", "evidence": [ { "database": "UniProtKB", "id": "O00213", "url": "https://www.uniprot.org/uniprot/O00213" }, { "database": "PubMed", "id": "33938178", "url": "https://glygen.org/publication/PubMed/33938178" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "80.78", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000166313", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000166313" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "56.37", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000166313", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000166313" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "78.4", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000166313", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000166313" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "74.3", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000166313", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000166313" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "94.11", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000166313", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000166313" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "81.97", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000166313", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000166313" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "61.97", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000166313", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000166313" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "81.46", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000166313", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000166313" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "88.34", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000166313", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000166313" } ] }, { "tissue": { "name": "Lung", 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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": 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"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 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"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", 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"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 - 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"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", 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"DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", 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}, { "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 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"name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "O00213", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00213" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00213" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine 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"resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "O00213", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00213" } ], "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": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O00213", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00213" } ], "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": "O00213", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00213" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "O00213", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00213" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "O00213", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00213" } ], "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": "down", "name": "Esophageal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "O00213", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00213" } ], "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that 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"https://www.ebi.ac.uk/interpro/entry/IPR001202", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR006020", "url": "https://www.ebi.ac.uk/interpro/entry/IPR006020", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR011993", "url": "https://www.ebi.ac.uk/interpro/entry/IPR011993", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036020", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036020", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR039576", "url": "https://www.ebi.ac.uk/interpro/entry/IPR039576", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:322", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:322", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "602709", "url": "http://www.omim.org/entry/602709", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O00213", "url": "https://www.nextprot.org/entry/NX_O00213", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "O00213", "url": "https://oglcnac.org/atlas/detail/O00213", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "O00213", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O00213", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "ENHQDQD", "url": "https://omabrowser.org/oma/group/ENHQDQD/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "5404780at2759", "url": "http://www.orthodb.org/?query=5404780at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR14058", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR14058", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR14058:SF5", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR14058:SF5", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "2E45", "url": "https://www.rcsb.org/structure/2E45", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "2HO2", "url": "https://www.rcsb.org/structure/2HO2", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "2IDH", "url": "https://www.rcsb.org/structure/2IDH", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "2OEI", "url": "https://www.rcsb.org/structure/2OEI", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3D8D", "url": "https://www.rcsb.org/structure/3D8D", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3D8E", "url": "https://www.rcsb.org/structure/3D8E", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3D8F", "url": "https://www.rcsb.org/structure/3D8F", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3DXC", "url": "https://www.rcsb.org/structure/3DXC", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3DXD", "url": "https://www.rcsb.org/structure/3DXD", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3DXE", "url": "https://www.rcsb.org/structure/3DXE", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5NQH", "url": "https://www.rcsb.org/structure/5NQH", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF00397", "url": "http://pfam.xfam.org/family/PF00397", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF00640", "url": "http://pfam.xfam.org/family/PF00640", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O00213", "url": "https://pharos.nih.gov/targets/O00213", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O00213", "url": "http://purl.obolibrary.org/obo/PR_O00213", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-5693565", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5693565", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_001155", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001155", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "A0A075B7G8", "url": "https://www.uniprot.org/uniprot/A0A075B7G8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A075B7G8-1", "url": "https://www.uniprot.org/uniprot/A0A075B7G8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O00213", "url": "https://www.uniprot.org/uniprot/O00213", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O00213-1", "url": "https://www.uniprot.org/uniprot/O00213-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O00213-2", "url": "https://www.uniprot.org/uniprot/O00213-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O00213-3", "url": "https://www.uniprot.org/uniprot/O00213-3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O00213-4", "url": "https://www.uniprot.org/uniprot/O00213-4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O00213-5", "url": "https://www.uniprot.org/uniprot/O00213-5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O00213-6", "url": "https://www.uniprot.org/uniprot/O00213-6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "V9GY97", "url": "https://www.uniprot.org/uniprot/V9GY97", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "V9GY97-1", "url": "https://www.uniprot.org/uniprot/V9GY97-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "V9GYD5", "url": "https://www.uniprot.org/uniprot/V9GYD5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "V9GYD5-1", "url": "https://www.uniprot.org/uniprot/V9GYD5-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "V9GYR7", "url": "https://www.uniprot.org/uniprot/V9GYR7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "V9GYR7-1", "url": "https://www.uniprot.org/uniprot/V9GYR7-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MSVPSSLSQSAINANSHGGPALSLPLPLHAAHNQLLNAKLQATAVGPKDLRSAMGEGGGPEPGPANAKWLKEGQNQLRRAATAHRDQNRNVTLTLAEEASQEPEMAPLGPKGLIHLYSELELSAHNAANRGLRGPGLIISTQEQGPDEGEEKAAGEAEEEEEDDDDEEEEEDLSSPPGLPEPLESVEAPPRPQALTDGPREHSKSASLLFGMRNSAASDEDSSWATLSQGSPSYGSPEDTDSFWNPNAFETDSDLPAGWMRVQDTSGTYYWHIPTGTTQWEPPGRASPSQGSSPQEESQLTWTGFAHGEGFEDGEFWKDEPSDEAPMELGLKEPEEGTLTFPAQSLSPEPLPQEEEKLPPRNTNPGIKCFAVRSLGWVEMTEEELAPGRSSVAVNNCIRQLSYHKNNLHDPMSGGWGEGKDLLLQLEDETLKLVEPQSQALLHAQPIISIRVWGVGRDSGRERDFAYVARDKLTQMLKCHVFRCEAPAKNIATSLHEICSKIMAERRNARCLVNGLSLDHSKLVDVPFQVEFPAPKNELVQKFQVYYLGNVPVAKPVGVDVINGALESVLSSSSREQWTPSHVSVAPATLTILHQQTEAVLGECRVRFLSFLAVGRDVHTFAFIMAAGPASFCCHMFWCEPNAASLSEAVQAACMLRYQKCLDARSQASTSCLPAPPAESVARRVGWTVRRGVQSLWGSLKPKRLGAHTP", "length": 710, "header": "sp|O00213-1|APBB1_HUMAN Isoform 1 of Amyloid beta precursor protein binding family B member 1 OS=Homo sapiens OX=9606 GN=APBB1 PE=1 SV=2 CANONICAL=O00213-1" }, "isoforms": [ { "isoform_ac": "A0A075B7G8-1", "url": "", "sequence": { "sequence": "MSVPSSLSQSAINANSHGGPALSLPLPLHAAHNQLLNAKLQATAVGPKDLRSAMGEGGGPEPGPANAKWLKEGQNQLRRAATAHRDQNRNVTLTLAEEASQEPEMAPLGPKGLIHLYSELELSAHNAANRGLRGPGLIISTQEQGPDEGEEKAAGEAEEEEEDDDDEEEEEDLSSPPGLPEPLESVEAPPRPQALTDGPREHSKSASLLFGMRNSAASDEDSSWATLSQGSPSYGSPEDTDSFWNPNAFETDSDLPAGWMRVQDTSGTYYWHIPTGTTQWEPPGRASPSQGSSPQEESQLTWTGFAHGEGFEDGEFWKDEPSDEAPMELGLKEPEEGTLTFPAQSLSPEPLPQEEEKLPPRNTNPGIKCFAVRSLGWVEMTEEELAPGRSSVAVNNCIRQLSYHKNNLHDPMSGGWGEGKDLLLQLEDETLKLVEPQSQALLHAQPIISIRVWGVGRDSGRERDFAYVARDKLTQMLKCHVFRCEAPAKNIATSLHEICSKIMAERRNARCLVNGLSLDHSKLVDVPFQVEFPAPKNELVQKFQVYYLGNVPVAKPVGVDVINGALESVLSSSSREQWTPSHVSVAPATLTILHQQTEAVLGECRVRFLSFLAVGRDVHTFAFIMAAGPASFCCHMFWCEPNAASLSEAVQAACMVEQEELVQARPHPPGPSRGRRRKGLVQAWVPSPCSMGTSAVLISLIKSVCT", "length": 706, "header": "tr|A0A075B7G8-1|APBB1_HUMAN Computationally mapped isoform of Amyloid beta precursor protein binding family B member 1 OS=Homo sapiens OX=9606 GN=APBB1 PE=1 SV=7 CANONICAL=O00213-1" }, "locus": { "chromosome": "11", "start_pos": 6411347, "end_pos": 6395127, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000608435.5", "url": "https://www.ensembl.org/id/ENST00000608435.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000476776.1", "url": "https://www.ensembl.org/id/ENSP00000476776.1" } ] } }, { "isoform_ac": "O00213-1", "url": "", "sequence": { "sequence": "MSVPSSLSQSAINANSHGGPALSLPLPLHAAHNQLLNAKLQATAVGPKDLRSAMGEGGGPEPGPANAKWLKEGQNQLRRAATAHRDQNRNVTLTLAEEASQEPEMAPLGPKGLIHLYSELELSAHNAANRGLRGPGLIISTQEQGPDEGEEKAAGEAEEEEEDDDDEEEEEDLSSPPGLPEPLESVEAPPRPQALTDGPREHSKSASLLFGMRNSAASDEDSSWATLSQGSPSYGSPEDTDSFWNPNAFETDSDLPAGWMRVQDTSGTYYWHIPTGTTQWEPPGRASPSQGSSPQEESQLTWTGFAHGEGFEDGEFWKDEPSDEAPMELGLKEPEEGTLTFPAQSLSPEPLPQEEEKLPPRNTNPGIKCFAVRSLGWVEMTEEELAPGRSSVAVNNCIRQLSYHKNNLHDPMSGGWGEGKDLLLQLEDETLKLVEPQSQALLHAQPIISIRVWGVGRDSGRERDFAYVARDKLTQMLKCHVFRCEAPAKNIATSLHEICSKIMAERRNARCLVNGLSLDHSKLVDVPFQVEFPAPKNELVQKFQVYYLGNVPVAKPVGVDVINGALESVLSSSSREQWTPSHVSVAPATLTILHQQTEAVLGECRVRFLSFLAVGRDVHTFAFIMAAGPASFCCHMFWCEPNAASLSEAVQAACMLRYQKCLDARSQASTSCLPAPPAESVARRVGWTVRRGVQSLWGSLKPKRLGAHTP", "length": 710, "header": "sp|O00213-1|APBB1_HUMAN Isoform 1 of Amyloid beta precursor protein binding family B member 1 OS=Homo sapiens OX=9606 GN=APBB1 PE=1 SV=2 CANONICAL=O00213-1" }, "locus": { "chromosome": "11", "start_pos": 6411347, "end_pos": 6395537, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000609360.6", "url": "https://www.ensembl.org/id/ENST00000609360.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000477213.1", "url": "https://www.ensembl.org/id/ENSP00000477213.1" } ] } }, { "isoform_ac": "O00213-2", "url": "", "sequence": { "sequence": "MSVPSSLSQSAINANSHGGPALSLPLPLHAAHNQLLNAKLQATAVGPKDLRSAMGEGGGPEPGPANAKWLKEGQNQLRRAATAHRDQNRNVTLTLAEEASQEPEMAPLGPKGLIHLYSELELSAHNAANRGLRGPGLIISTQEQGPDEGEEKAAGEAEEEEEDDDDEEEEEDLSSPPGLPEPLESVEAPPRPQALTDGPREHSKSASLLFGMRNSAASDEDSSWATLSQGSPSYGSPEDTDSFWNPNAFETDSDLPAGWMRVQDTSGTYYWHIPTGTTQWEPPGRASPSQGSSPQEESQLTWTGFAHGEGFEDGEFWKDEPSDEAPMELGLKEPEEGTLTFPAQSLSPEPLPQEEEKLPPRNTNPGIKCFAVRSLGWVEMTEEELAPGRSSVAVNNCIRQLSYHKNNLHDPMSGGWGEGKDLLLQLEDETLKLVEPQSQALLHAQPIISIRVWGVGRDSGRDFAYVARDKLTQMLKCHVFRCEAPAKNIATSLHEICSKIMAERRNARCLVNGLSLDHSKLVDVPFQVEFPAPKNELVQKFQVYYLGNVPVAKPVGVDVINGALESVLSSSSREQWTPSHVSVAPATLTILHQQTEAVLGECRVRFLSFLAVGRDVHTFAFIMAAGPASFCCHMFWCEPNAASLSEAVQAACMLRYQKCLDARSQASTSCLPAPPAESVARRVGWTVRRGVQSLWGSLKPKRLGAHTP", "length": 708, "header": "sp|O00213-2|APBB1_HUMAN Isoform 2 of Amyloid beta precursor protein binding family B member 1 OS=Homo sapiens OX=9606 GN=APBB1 PE=1 SV=2 CANONICAL=O00213-1" }, "locus": { "chromosome": "11", "start_pos": 6411347, "end_pos": 6395537, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000299402.10", "url": "https://www.ensembl.org/id/ENST00000299402.10" }, { "database": "Ensembl Peptide", "id": "ENSP00000299402.6", "url": "https://www.ensembl.org/id/ENSP00000299402.6" } ] } }, { "isoform_ac": "O00213-3", "url": "", "sequence": { "sequence": "MSAMFSQDFFLAIILQDSSADSFWNPNAFETDSDLPAGWMRVQDTSGTYYWHIPTGTTQWEPPGRASPSQGSSPQEESQLTWTGFAHGEGFEDGEFWKDEPSDEAPMELGLKEPEEGTLTFPAQSLSPEPLPQEEEKLPPRNTNPGIKCFAVRSLGWVEMTEEELAPGRSSVAVNNCIRQLSYHKNNLHDPMSGGWGEGKDLLLQLEDETLKLVEPQSQALLHAQPIISIRVWGVGRDSGRDFAYVARDKLTQMLKCHVFRCEAPAKNIATSLHEICSKIMAERRNARCLVNGLSLDHSKLVDVPFQVEFPAPKNELVQKFQVYYLGNVPVAKPVGVDVINGALESVLSSSSREQWTPSHVSVAPATLTILHQQTEAVLGECRVRFLSFLAVGRDVHTFAFIMAAGPASFCCHMFWCEPNAASLSEAVQAACMLRYQKCLDARSQASTSCLPAPPAESVARRVGWTVRRGVQSLWGSLKPKRLGAHTP", "length": 488, "header": "sp|O00213-3|APBB1_HUMAN Isoform 3 of Amyloid beta precursor protein binding family B member 1 OS=Homo sapiens OX=9606 GN=APBB1 PE=1 SV=2 CANONICAL=O00213-1" }, "locus": { "chromosome": "11", "start_pos": 6404805, "end_pos": 6395537, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000530885.5", "url": "https://www.ensembl.org/id/ENST00000530885.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000433338.1", "url": "https://www.ensembl.org/id/ENSP00000433338.1" } ] } }, { "isoform_ac": "O00213-4", "url": "", "sequence": { "sequence": "MRVQDTSGTYYWHIPTGTTQWEPPGRASPSQGSSPQEESQLTWTGFAHGEGFEDGEFWKDEPSDEAPMELGLKEPEEGTLTFPAQSLSPEPLPQEEEKLPPRNTNPGIKCFAVRSLGWVEMTEEELAPGRSSVAVNNCIRQLSYHKNNLHDPMSGGWGEGKDLLLQLEDETLKLVEPQSQALLHAQPIISIRVWGVGRDSGRERDFAYVARDKLTQMLKCHVFRCEAPAKNIATSLHEICSKIMAERRNARCLVNGLSLDHSKLVDVPFQVEFPAPKNELVQKFQVYYLGNVPVAKPVGVDVINGALESVLSSSSREQWTPSHVSVAPATLTILHQQTEAVLGECRVRFLSFLAVGRDVHTFAFIMAAGPASFCCHMFWCEPNAASLSEAVQAACMLRYQKCLDARSQASTSCLPAPPAESVARRVGWTVRRGVQSLWGSLKPKRLGAHTP", "length": 451, "header": "sp|O00213-4|APBB1_HUMAN Isoform 4 of Amyloid beta precursor protein binding family B member 1 OS=Homo sapiens OX=9606 GN=APBB1 PE=1 SV=2 CANONICAL=O00213-1" }, "locus": { "chromosome": "11", "start_pos": 6403766, "end_pos": 6395537, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000608394.5", "url": "https://www.ensembl.org/id/ENST00000608394.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000476442.1", "url": "https://www.ensembl.org/id/ENSP00000476442.1" } ] } }, { "isoform_ac": "O00213-5", "url": "", "sequence": { "sequence": "MSAMFSQDFFLAIILQDSSADSFWNPNAFETDSDLPAGWMRVQDTSGTYYWHIPTGTTQWEPPGRASPSQGSSPQEESQLTWTGFAHGEGFEDGEFWKDEPSDEAPMELGLKEPEEGTLTFPAQSLSPEPLPQEEEKLPPRNTNPGIKCFAVRSLGWVEMTEEELAPGRSSVAVNNCIRQLSYHKNNLHDPMSGGWGEGKDLLLQLEDETLKLVEPQSQALLHAQPIISIRVWGVGRDSGRERDFAYVARDKLTQMLKCHVFRCEAPAKNIATSLHEICSKIMAERRNARCLVNGLSLDHSKLVDVPFQVEFPAPKNELVQKFQVYYLGNVPVAKPVGVDVINGALESVLSSSSREQWTPSHVSVAPATLTILHQQTEAVLGECRVRFLSFLAVGRDVHTFAFIMAAGPASFCCHMFWCEPNAASLSEAVQAACMLRYQKCLDARSQASTSCLPAPPAESVARRVGWTVRRGVQSLWGSLKPKRLGAHTP", "length": 490, "header": "sp|O00213-5|APBB1_HUMAN Isoform 5 of Amyloid beta precursor protein binding family B member 1 OS=Homo sapiens OX=9606 GN=APBB1 PE=1 SV=2 CANONICAL=O00213-1" }, "locus": { "chromosome": "11", "start_pos": 6404805, "end_pos": 6395537, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000608655.6", "url": "https://www.ensembl.org/id/ENST00000608655.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000476846.1", "url": "https://www.ensembl.org/id/ENSP00000476846.1" } ] } }, { "isoform_ac": "O00213-6", "url": "", "sequence": { "sequence": "MTQMRDSFWNPNAFETDSDLPAGWMRVQDTSGTYYWHIPTGTTQWEPPGRASPSQGSSPQEESQLTWTGFAHGEGFEDGEFWKDEPSDEAPMELGLKEPEEGTLTFPAQSLSPEPLPQEEEKLPPRNTNPGIKCFAVRSLGWVEMTEEELAPGRSSVAVNNCIRQLSYHKNNLHDPMSGGWGEGKDLLLQLEDETLKLVEPQSQALLHAQPIISIRVWGVGRDSGRERDFAYVARDKLTQMLKCHVFRCEAPAKNIATSLHEICSKIMAERRNARCLVNGLSLDHSKLVDVPFQVEFPAPKNELVQKFQVYYLGNVPVAKPVGVDVINGALESVLSSSSREQWTPSHVSVAPATLTILHQQTEAVLGECRVRFLSFLAVGRDVHTFAFIMAAGPASFCCHMFWCEPNAASLSEAVQAACMLRYQKCLDARSQASTSCLPAPPAESVARRVGWTVRRGVQSLWGSLKPKRLGAHTP", "length": 475, "header": "sp|O00213-6|APBB1_HUMAN Isoform 6 of Amyloid beta precursor protein binding family B member 1 OS=Homo sapiens OX=9606 GN=APBB1 PE=1 SV=2 CANONICAL=O00213-1" }, "locus": { "chromosome": "11", "start_pos": 6404622, "end_pos": 6395537, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000609331.5", "url": "https://www.ensembl.org/id/ENST00000609331.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000477069.1", "url": "https://www.ensembl.org/id/ENSP00000477069.1" } ] } }, { "isoform_ac": "V9GY97-1", "url": "", "sequence": { "sequence": "MRVQDTSGTYYWHIPTGTTQWEPPGRASPSQGSSPQEESQLTWTGFAHGEGFEDGEFWKDEPSDEAPMELGLKEPEEGTLTFPAQSLSPEPLPQEEEKLPPRNTNPGIKCFAVRSLGWVEMTEEELAPGRSSVAVNNCIRQLSYHKNNLHDPMSGGWGEGKDLLLQLEDETLKLVEPQSQALLHAQPIISIRVWGVGRDSGRDFAYVARDKLTQMLKCHVFRCEAPAKNIATSLHEICSKIMAERRNARCLVNGLSLDHSK", "length": 261, "header": "tr|V9GY97-1|APBB1_HUMAN Computationally mapped isoform of Amyloid beta precursor protein binding family B member 1 OS=Homo sapiens OX=9606 GN=APBB1 PE=1 SV=8 CANONICAL=O00213-1" }, "locus": { "chromosome": "11", "start_pos": 6403766, "end_pos": 6401367, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000529890.5", "url": "https://www.ensembl.org/id/ENST00000529890.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000476536.1", "url": "https://www.ensembl.org/id/ENSP00000476536.1" } ] } }, { "isoform_ac": "V9GYD5-1", "url": "", "sequence": { "sequence": "MRVQDTSGTYYWHIPTGTTQWEPPGRASPSQGSSPQEESQLTWTGFAHGEGFEDGEFWKDEPSDEAPMELGLKEPEEGTLTFPAQSL", "length": 87, "header": "tr|V9GYD5-1|V9GYD5_HUMAN Computationally mapped isoform of Amyloid beta precursor protein binding family B member 1 OS=Homo sapiens OX=9606 GN=APBB1 PE=1 SV=1 CANONICAL=O00213-1" }, "locus": { "chromosome": "11", "start_pos": 6403766, "end_pos": 6403321, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000532020.2", "url": "https://www.ensembl.org/id/ENST00000532020.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000476647.1", "url": "https://www.ensembl.org/id/ENSP00000476647.1" } ] } }, { "isoform_ac": "V9GYR7-1", "url": "", "sequence": { "sequence": "MLKCHVFRCEAPAKNIATSLHEICSKIMAERRNARCLVNGLSLDHSKLVDVPFQVEFPAPKNELVQKFQVYYLGNVPVAKPVGVDVINGALESVLSSSSREQWTPSHVSVAPATLTILHQQTEAVLGECRVRFLSFLAVGRDVHTFAFIMAAGPASFCCHMFWCEPNAASLSEAVQAACMLRYQKCLDARSQASTSCLPAPPAESVARRVGWTVRRGVQSLWGSLKPKRLGAHTP", "length": 235, "header": "tr|V9GYR7-1|V9GYR7_HUMAN Computationally mapped isoform of Amyloid beta precursor protein binding family B member 1 OS=Homo sapiens OX=9606 GN=APBB1 PE=1 SV=1 CANONICAL=O00213-1" }, "locus": { "chromosome": "11", "start_pos": 6401651, "end_pos": 6395537, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000529519.5", "url": "https://www.ensembl.org/id/ENST00000529519.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000477022.1", "url": "https://www.ensembl.org/id/ENSP00000477022.1" } ] } } ], "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": 666, "start_aa": "Ser", "end_pos": 666, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser666", "evidence": [ { "id": "O00213", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O00213" }, { "id": "28657654", "database": "PubMed", 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regulates the DNA damage response.", "journal": "Nature", "date": "2000", "authors": "Lee JS, Collins KM, Brown AL, Lee CH, Chung JH", "evidence": [ { "database": "Reactome", "id": "R-HSA-5693565", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5693565" } ], "reference": [ { "type": "PubMed", "id": "10724175", "url": "https://glygen.org/publication/PubMed/10724175" } ] }, { "title": "ATM phosphorylates p95/nbs1 in an S-phase checkpoint pathway.", "journal": "Nature", "date": "2000", "authors": "Lim DS, Kim ST, Xu B, Maser RS, Lin J, Petrini JH, Kastan MB", "evidence": [ { "database": "Reactome", "id": "R-HSA-5693565", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5693565" } ], "reference": [ { "type": "PubMed", "id": "10766245", "url": "https://glygen.org/publication/PubMed/10766245" } ] }, { "title": "ATM-dependent phosphorylation of nibrin in response to radiation exposure.", "journal": "Nature genetics", "date": "2000", "authors": "Gatei M, Young D, Cerosaletti KM, Desai-Mehta A, Spring K, Kozlov S, Lavin MF, Gatti RA, Concannon P, Khanna K", "evidence": [ { "database": "Reactome", "id": "R-HSA-5693565", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5693565" } ], "reference": [ { "type": "PubMed", "id": "10802669", "url": "https://glygen.org/publication/PubMed/10802669" } ] }, { "title": "Role for ATM in DNA damage-induced phosphorylation of BRCA1.", "journal": "Cancer research", "date": "2000", "authors": "Gatei M, Scott SP, Filippovitch I, Soronika N, Lavin MF, Weber B, Khanna KK", "evidence": [ { "database": "Reactome", "id": "R-HSA-5693565", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5693565" } ], "reference": [ { "type": "PubMed", "id": "10866324", "url": "https://glygen.org/publication/PubMed/10866324" } ] }, { "title": "A critical role for histone H2AX in recruitment of repair factors to nuclear foci after DNA damage.", "journal": "Current biology : CB", "date": "2000", "authors": "Paull TT, Rogakou EP, Yamazaki V, Kirchgessner CU, Gellert M, Bonner WM", "evidence": [ { "database": "Reactome", "id": "R-HSA-5693565", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5693565" } ], "reference": [ { "type": "PubMed", "id": "10959836", "url": "https://glygen.org/publication/PubMed/10959836" } ] }, { "title": "Ataxia telangiectasia-mutated phosphorylates Chk2 in vivo and in vitro.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2000", "authors": "Matsuoka S, Rotman G, Ogawa A, Shiloh Y, Tamai K, Elledge SJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-5693565", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5693565" } ], "reference": [ { "type": "PubMed", "id": "10973490", "url": "https://glygen.org/publication/PubMed/10973490" } ] }, { "title": "Threonine 68 is required for radiation-induced phosphorylation and activation of Cds1.", "journal": "Nature cell biology", "date": "2000", "authors": "Melchionna R, Chen XB, Blasina A, McGowan CH", "evidence": [ { "database": "Reactome", "id": "R-HSA-5693565", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5693565" } ], "reference": [ { "type": "PubMed", "id": "11025670", "url": "https://glygen.org/publication/PubMed/11025670" } ] }, { "title": "Functional interactions between BRCA1 and the checkpoint kinase ATR during genotoxic stress.", "journal": "Genes & development", "date": "2000", "authors": "Tibbetts RS, Cortez D, Brumbaugh KM, Scully R, Livingston D, Elledge SJ, Abraham RT", "evidence": [ { "database": "Reactome", "id": "R-HSA-5693565", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5693565" } ], "reference": [ { "type": "PubMed", "id": "11114888", "url": "https://glygen.org/publication/PubMed/11114888" } ] }, { "title": "The hCds1 (Chk2)-FHA domain is essential for a chain of phosphorylation events on hCds1 that is induced by ionizing radiation.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Lee CH, Chung JH", "evidence": [ { "database": "Reactome", "id": "R-HSA-5693565", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5693565" } ], "reference": [ { "type": "PubMed", "id": "11390408", "url": "https://glygen.org/publication/PubMed/11390408" } ] }, { "title": "ATM phosphorylates histone H2AX in response to DNA double-strand breaks.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Burma S, Chen BP, Murphy M, Kurimasa A, Chen DJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-5693565", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5693565" } ], "reference": [ { "type": "PubMed", "id": "11571274", "url": "https://glygen.org/publication/PubMed/11571274" } ] }, { "title": "Structure of a BRCA1-BARD1 heterodimeric RING-RING complex.", "journal": "Nature structural biology", "date": "2001", "authors": "Brzovic PS, Rajagopal P, Hoyt DW, King MC, Klevit RE", "evidence": [ { "database": "Reactome", "id": "R-HSA-5693565", "url": 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"11927591", "url": "https://glygen.org/publication/PubMed/11927591" } ] }, { "title": "Genomic instability in mice lacking histone H2AX.", "journal": "Science (New York, N.Y.)", "date": "2002", "authors": "Celeste A, Petersen S, Romanienko PJ, Fernandez-Capetillo O, Chen HT, Sedelnikova OA, Reina-San-Martin B, Coppola V, Meffre E, Difilippantonio MJ, Redon C, Pilch DR, Olaru A, Eckhaus M, Camerini-Otero RD, Tessarollo L, Livak F, Manova K, Bonner WM, Nussenzweig MC, Nussenzweig A", "evidence": [ { "database": "Reactome", "id": "R-HSA-5693565", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5693565" } ], "reference": [ { "type": "PubMed", "id": "11934988", "url": "https://glygen.org/publication/PubMed/11934988" } ] }, { "title": "53BP1, a mediator of the DNA damage checkpoint.", "journal": "Science (New York, N.Y.)", "date": "2002", "authors": "Wang B, Matsuoka S, Carpenter PB, Elledge SJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-5693565", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5693565" } ], "reference": [ { "type": "PubMed", "id": "12364621", "url": "https://glygen.org/publication/PubMed/12364621" } ] }, { "title": "DNA damage-induced G2-M checkpoint activation by histone H2AX and 53BP1.", "journal": "Nature cell biology", "date": "2002", "authors": "Fernandez-Capetillo O, Chen HT, Celeste A, Ward I, Romanienko PJ, Morales JC, Naka K, Xia Z, Camerini-Otero RD, Motoyama N, Carpenter PB, Bonner WM, Chen J, Nussenzweig A", "evidence": [ { "database": "Reactome", "id": "R-HSA-5693565", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5693565" } ], "reference": [ { "type": "PubMed", "id": "12447390", "url": "https://glygen.org/publication/PubMed/12447390" } ] }, { "title": "Activation of the E3 ligase function of the BRCA1/BARD1 complex by polyubiquitin chains.", "journal": "The EMBO journal", "date": "2002", "authors": "Mallery DL, Vandenberg CJ, Hiom K", "evidence": [ { "database": "Reactome", "id": 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