{ "uniprot_canonical_ac": "O94812-1", "uniprot_ac": "O94812", "uniprot_id": "BAIP3_HUMAN", "mass": { "chemical_mass": 131901.0, "monoisotopic_mass": 131901.0 }, "refseq": { "ac": "NP_001186025", "name": "BAI1-associated protein 3 isoform 2", "summary": "This p53-target gene encodes a brain-specific angiogenesis inhibitor. The protein is a seven-span transmembrane protein and a member of the secretin receptor family. It interacts with the cytoplasmic region of brain-specific angiogenesis inhibitor 1. This protein also contains two C2 domains, which are often found in proteins involved in signal transduction or membrane trafficking. Its expression pattern and similarity to other proteins suggest that it may be involved in synaptic functions. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2010].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186025" }, "gene_names": [ { "name": "BAIAP3", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O94812", "id": "O94812" }, { "name": "BAIAP3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186025", "id": "NP_001186025" }, { "name": "BAP3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186025", "id": "NP_001186025" }, { "name": "KIAA0734", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O94812", "id": "O94812" } ], "protein_names": [ { "name": "BAI1-associated protein 3", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O94812" }, { "name": "BAI-associated protein 3; brain-specific angiogenesis inhibitor I-associated protein 3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186025", "id": "NP_001186025" }, { "name": "BAI1-associated protein 3 isoform 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186025", "id": "NP_001186025" }, { "name": "BAP3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O94812" }, { "name": "Brain-specific angiogenesis inhibitor I-associated protein 3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O94812" } ], "function": [ { "annotation": "BAIAP3 functions indirectly in dense-core vesicle exocytosis by affecting DCV maturation through its role in DCV protein recycling.", "evidence": [ { "database": "RefSeq", "id": "NP_001186025", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186025" }, { "database": "PubMed", "id": "28626000", "url": "https://glygen.org/publication/PubMed/28626000" } ] }, { "annotation": "Baiap3 is gender specifically associated with anxiety and benzodiazepine use disorder. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001186025", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186025" }, { "database": "PubMed", "id": "23698091", "url": "https://glygen.org/publication/PubMed/23698091" } ] }, { "annotation": "Functions in endosome to Golgi retrograde transport. In response to calcium influx, may interact with SNARE fusion receptors and membrane phospholipids to mediate endosome fusion with the trans-Golgi network. By promoting the recycling of secretory vesicle transmembrane proteins, it indirectly controls dense-core secretory vesicle biogenesis, maturation and their ability to mediate the constitutive and regulated secretion of neurotransmitters and hormones. May regulate behavior and food intake by controlling calcium-stimulated exocytosis of neurotransmitters including NPY and serotonin and hormones like insulin (PubMed:28626000). Proposed to play a role in hypothalamic neuronal firing by modulating gamma-aminobutyric acid (GABA)ergic inhibitory neurotransmission (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "O94812", "url": "https://www.uniprot.org/uniprot/O94812#function" }, { "database": "PubMed", "id": "28626000", "url": "https://glygen.org/publication/PubMed/28626000" }, { "database": "UniProtKB", "id": "Q80TT2", "url": "https://www.uniprot.org/uniprot/Q80TT2#function" } ] }, { "annotation": "Integrated analysis of microRNA and mRNA expression profiling identifies BAIAP3 as a novel target of dysregulated hsa-miR-1972 in age-related white matter lesions. Erratum:[Aging (Albany NY). 2021 Jun 14;13(11):15688-15689. PMID: 34127571]", "evidence": [ { "database": "RefSeq", "id": "NP_001186025", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186025" }, { "database": "PubMed", "id": "33561007", "url": "https://glygen.org/publication/PubMed/33561007" } ] }, { "annotation": "This p53-target gene encodes a brain-specific angiogenesis inhibitor. The protein is a seven-span transmembrane protein and a member of the secretin receptor family. It interacts with the cytoplasmic region of brain-specific angiogenesis inhibitor 1. This protein also contains two C2 domains, which are often found in proteins involved in signal transduction or membrane trafficking. Its expression pattern and similarity to other proteins suggest that it may be involved in synaptic functions. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2010].", "evidence": [ { "database": "RefSeq", "id": "NP_001186025", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186025" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs971021071", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs971021071" }, { "id": "rs971021071", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs971021071" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 113, "end_pos": 113, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SGS->NGS).", "chr_id": "16", "chr_pos": "1339177", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S113", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs115198116", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs115198116" }, { "id": "rs115198116", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs115198116" }, { "id": "rs115198116", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs115198116" }, { "id": "rs115198116", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs115198116#frequency_tab" }, { "id": "rs115198116", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs115198116" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 198, "end_pos": 198, "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (KVS->NVS).", "chr_id": "16", "chr_pos": "1341149", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "0.000998", "site_lbl": "K198", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1480629909", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1480629909" }, { "id": "rs1480629909", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1480629909" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 283, "end_pos": 283, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DVS->NVS).", "chr_id": "16", "chr_pos": "1341832", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D283", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O94812", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O94812" }, { "id": "rs114280977", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs114280977" }, { "id": "rs114280977", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs114280977" }, { "id": "rs114280977", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs114280977" }, { "id": "rs114280977", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs114280977#frequency_tab" }, { "id": "rs114280977", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs114280977" }, { "id": "rs370223637", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs370223637" }, { "id": "rs370223637", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs370223637" }, { "id": "rs370223637", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs370223637" }, { "id": "rs370223637", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs370223637" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 299, "end_pos": 299, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (DVS->NVS).", "chr_id": "16", "chr_pos": "1341999", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "D299", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs55700295", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs55700295" }, { "id": "rs55700295", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs55700295" }, { "id": "rs55700295", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs55700295" }, { "id": "rs55700295", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs55700295#frequency_tab" }, { "id": "rs55700295", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs55700295" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 31, "end_pos": 31, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SRS->NRS).", "chr_id": "16", "chr_pos": "1338641", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.01238", "site_lbl": "S31", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O94812", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O94812" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 340, "end_pos": 340, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (DHT->NHT).", "chr_id": "16", "chr_pos": "1342239", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "D340", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs373479839", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs373479839" }, { "id": "rs373479839", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs373479839" }, { "id": "rs373479839", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs373479839#frequency_tab" }, { "id": "rs373479839", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs373479839" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 43, "end_pos": 43, "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (KSS->NSS).", "chr_id": "16", "chr_pos": "1338573", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K43", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs752910055", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752910055" }, { "id": "rs752910055", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752910055" }, { "id": "rs752910055", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752910055" }, { "id": "rs752910055", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs752910055" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 466, "end_pos": 466, "sequence_org": "H", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (HQT->NQT).", "chr_id": "16", "chr_pos": "1346941", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H466", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1262374445", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1262374445" }, { "id": "rs1262374445", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1262374445" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 504, "end_pos": 504, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SLS->NLS).", "chr_id": "16", "chr_pos": "1344041", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S504", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1253255874", "database": "dbSNP", "url": 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"http://gnomad.broadinstitute.org/awesome?query=rs779459832" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 583, "end_pos": 583, "sequence_org": "K", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NDK->NDT).", "chr_id": "16", "chr_pos": "1344509", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K583", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs750487482", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750487482" }, { "id": "rs750487482", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750487482" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 615, "end_pos": 615, "sequence_org": "Y", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (YAS->NAS).", "chr_id": "16", "chr_pos": "1344679", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y615", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1403144575", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1403144575" }, { "id": "rs1403144575", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1403144575" }, { "id": "rs148966323", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs148966323" }, { "id": "rs148966323", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs148966323" }, { "id": "rs148966323", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs148966323" }, { "id": "rs148966323", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs148966323#frequency_tab" }, { "id": "rs148966323", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs148966323" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 629, "end_pos": 629, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->I).", "chr_id": "16", "chr_pos": "1348173", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T629", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs368548091", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs368548091" }, { "id": "rs368548091", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs368548091" }, { "id": "rs368548091", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs368548091" }, { "id": "rs368548091", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs368548091#frequency_tab" }, { "id": "rs368548091", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs368548091" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 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"MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "No", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O94812", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O94812" } ], "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", 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"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": "O94812", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O94812" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "No", "trend": "down", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "O94812", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O94812" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] } ] }, { "significant": "No", "trend": "down", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "O94812", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O94812" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "O94812", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O94812" } ], "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O94812", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O94812" } ], "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": "O94812", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O94812" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "No", "trend": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "O94812", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O94812" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ] } ] }, { "significant": "No", "trend": "down", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "O94812", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O94812" } ], "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": "No", "trend": "down", "name": "Esophageal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "O94812", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O94812" } ], "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": 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"https://www.ebi.ac.uk/interpro/entry/IPR010439", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR014770", "url": "https://www.ebi.ac.uk/interpro/entry/IPR014770", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR014772", "url": "https://www.ebi.ac.uk/interpro/entry/IPR014772", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR035892", "url": "https://www.ebi.ac.uk/interpro/entry/IPR035892", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:8938", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:8938", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "604009", "url": "http://www.omim.org/entry/604009", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O94812", "url": "https://www.nextprot.org/entry/NX_O94812", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "O94812", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O94812", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "IFELFMS", "url": "https://omabrowser.org/oma/group/IFELFMS/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "3059697at2759", "url": "http://www.orthodb.org/?query=3059697at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR45999", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR45999", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR45999:SF1", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR45999:SF1", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF00168", "url": "http://pfam.xfam.org/family/PF00168", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF06292", "url": "http://pfam.xfam.org/family/PF06292", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O94812", "url": "https://pharos.nih.gov/targets/O94812", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O94812", "url": "http://purl.obolibrary.org/obo/PR_O94812", "database": "PRO", "categories": [ "Protein" ] }, { "id": "NP_001186025", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186025", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "A0AA34QVM2", "url": "https://www.uniprot.org/uniprot/A0AA34QVM2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0AA34QVM2-1", "url": "https://www.uniprot.org/uniprot/A0AA34QVM2-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0AA34QVM4", "url": "https://www.uniprot.org/uniprot/A0AA34QVM4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0AA34QVM4-1", "url": "https://www.uniprot.org/uniprot/A0AA34QVM4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0AA34QVM8", "url": "https://www.uniprot.org/uniprot/A0AA34QVM8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0AA34QVM8-1", "url": "https://www.uniprot.org/uniprot/A0AA34QVM8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0AA34QVM9", "url": "https://www.uniprot.org/uniprot/A0AA34QVM9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0AA34QVM9-1", "url": "https://www.uniprot.org/uniprot/A0AA34QVM9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0AA34QVV4", "url": "https://www.uniprot.org/uniprot/A0AA34QVV4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0AA34QVV4-1", "url": "https://www.uniprot.org/uniprot/A0AA34QVV4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0AA34QVV7", "url": "https://www.uniprot.org/uniprot/A0AA34QVV7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0AA34QVV7-1", "url": "https://www.uniprot.org/uniprot/A0AA34QVV7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0AA34QVY1", "url": "https://www.uniprot.org/uniprot/A0AA34QVY1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0AA34QVY1-1", "url": "https://www.uniprot.org/uniprot/A0AA34QVY1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0AA34QVY3", "url": "https://www.uniprot.org/uniprot/A0AA34QVY3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0AA34QVY3-1", "url": "https://www.uniprot.org/uniprot/A0AA34QVY3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0AA34QW15", "url": "https://www.uniprot.org/uniprot/A0AA34QW15", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0AA34QW15-1", "url": "https://www.uniprot.org/uniprot/A0AA34QW15-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0AA34QW16", "url": "https://www.uniprot.org/uniprot/A0AA34QW16", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0AA34QW16-1", "url": "https://www.uniprot.org/uniprot/A0AA34QW16-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BPP9", "url": "https://www.uniprot.org/uniprot/H3BPP9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BPP9-1", "url": "https://www.uniprot.org/uniprot/H3BPP9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O94812", "url": "https://www.uniprot.org/uniprot/O94812", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O94812-1", "url": "https://www.uniprot.org/uniprot/O94812-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O94812-2", "url": "https://www.uniprot.org/uniprot/O94812-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O94812-3", "url": "https://www.uniprot.org/uniprot/O94812-3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O94812-5", "url": "https://www.uniprot.org/uniprot/O94812-5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O94812-6", "url": "https://www.uniprot.org/uniprot/O94812-6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O94812-7", "url": "https://www.uniprot.org/uniprot/O94812-7", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MRPRGAAFAAGPPGDLHLGTAIGFAGAIWRSRSPAMSTLLDIKSSVLRQVQVCPSFRRRTEQDPGSASADPQEPATGAWKPGDGVEFFAHMRLMLKKGEGRQGLPCLEVPLRSGSPAPPEPVDPSLGLRALAPEEVEMLYEEALYTVLYRAGTMGPDQVDDEEALLSYLQQVFGTSLEEHTEAIERVRKAKAPTYALKVSVMRAKNLLAKDPNGFSDPYCMLGILPASDATREPRAQKEQRFGFRKGSKRGGPLPAKCIQVTEVKSSTLNPVWKEHFLFEIEDVSTDQLHLDIWDHDDDVSLVEACRKLNEVIGLKGMGRYFKQIVKSARANGTAGPTEDHTDDFLGCLNIPVREVPVAGVDRWFKLEPRSSASRVQGHCHLVLKLITTQRDTAMSQRGRSGFLSHLLLLSHLLRLEHSAEEPNSSSWRGELSTPAATILCLHGAQSNLSPLQLAVLHWQVSSRHHQTCTLDYSYLLGLLEDMQAHWEEAPSLPQEQEESLADSLSAFSEFGLQLLRQLRDYFPATNSTAVHRLELLLKCLGKLQLFQPSFEICPFESELNMDIAAALKRGNREWYDRILNDKSPREQPGPQRLPGLVVLADAVYDDLQFCYSVYASLFHSILNVDVFTLTFRQLERLVAEEAWVLTEELSPKMTLEVASGLFELYLTLADLQRFWDSIPGRDSRSLALAGIHAPFLPAVKLWFQVLRDQAKWRLQGAVDMDTLEPVDASSRHSSSAATAGLCLSHIQELWVRLAWPDPAQAQGLGTQLGQDVCEATLFYTELLRKKVDTQPGAAGEAVSEALCVVLNNVELVRKAAGQALKGLAWPEGATGPEGVLPRPLLSCTQALDDDLQREAHTVTAHLTSKMVGDIRKYVQHISLSPDSIQNDEAVAPLMKYLDEKLALLNASLVKGNLSRVLEALWELLLQAILQALGANRDVSADFYSRFHFTLEALVSFFHAEGQGLPLESLRDGSYKRLKEELRLHKCSTRECIEQFYLDKLKQRTLEQNRFGRLSVRCHYEAAEQRLAVEVLHAADLLPLDANGLSDPFVIVELGPPHLFPLVRSQRTQVKTRTLHPVYDELFYFSVPAEACRRRAACVLFTVMDHDWLSTNDFAGEAALGLGGVTGVARPQVGGGARAGQPVTLHLCRPRAQVRSALRRLEGRTSKEAQEFVKKLKELEKCMEADP", "length": 1187, "header": "sp|O94812-1|BAIP3_HUMAN Isoform 1 of BAI1-associated protein 3 OS=Homo sapiens OX=9606 GN=BAIAP3 PE=1 SV=2 CANONICAL=O94812-1" }, "isoforms": [ { "isoform_ac": "A0AA34QVM2-1", "url": "", "sequence": { "sequence": "MSTLLDIKSSVLRQVQVCPSFRRRTEQDPGSASADPQEPATGAWKPGDGVEFFAHMRLMLKKGEGRQGLPCLEAWGSPCRQSPHPGPHTQVPLRSGSPAPPEPVDPSLGLRALAPEEVEMLYEEALYTVLYRAGTMGPDQVDDEEALLSYLQQVFGTSLEEHTEAIERVRKAKAPTYALKVSVMRAKNLLAKDPNGFSDPYCMLGILPASDATREPRAQKEQRFGFRKGSKRGGPLPAKCIQVTEVKSSTLNPVWKEHFLFEIEDVSTDQLHLDIWDHDDDVSLVEACRKLNEVIGLKGMGRYFKQIVKSARANGTAGPTEDHTDDFLGCLNIPVREVPVAGVDRWFKLEPRSSASRVQGHCHLVLKLITTQRDTAMSQRGRSGFLSHLLLLSHLLRLEHSAEEPNSSSWRGELSTPAATILCLHGAQSNLSPLQLAVLHWQVSSRHHQTCTLDYSYLLGLLEDMQAHWEEAPSLPQEQEESLADSLSAFSEFGLQLLRQLRDYFPATNSTAVHRLELLLKCLGKLQLFQPSFEICPFESELNMDIAAALKRGNREWYDRILNDKSPREQPGPQRLPGLVVLADAVYDDLQFCYSVYASLFHSILNVDVFTLTFRQLERLVAEEAWVLTEELSPKMTLEVASGLFELYLTLADLQRFWDSIPGRDSRSLALAGIHAPFLPAVKLWFQVLRDQAKWRLQGAVDMDTLEPVDASSRHSSSAATAGLCLSHIQELWVRLAWPDPAQAQGLGTQLGQDVCEATLFYTELLRKKVDTQPGAAGEAVSEALCVVLNNVELVRKAAGQALKGLAWPEGATGPEGVLPRPLLSCTQALDDDLQREAHTVTAHLTSKMVGDIRKYVQHISLSPDSIQNDEAVAPLMKYLDEKLALLNASLVKGNLSRPWSVFSTQRVRVCPWRA", "length": 915, "header": "tr|A0AA34QVM2-1|A0AA34QVM2_HUMAN Computationally mapped isoform of BAI1 associated protein 3 OS=Homo sapiens OX=9606 GN=BAIAP3 PE=4 SV=1 CANONICAL=O94812-1" }, "locus": {} }, { "isoform_ac": "A0AA34QVM4-1", "url": "", "sequence": { "sequence": "MSTLLDIKSSVLRQVQVCPSFRRRTEQDPGSASADPQEPATGAWKPGDGVEFFAHMRLMLKKGEGRQGLPCLEVPLRSGSPAPPEPVDPSLGLRALAPEEVEMLYEEALYTVLYRAGTMGPDQVDDEEALLSYLQQVFGTSLEEHTEAIERVRKAKAPTYALKVSVMRAKNLLAKDPNGFSDPYCMLGILPASDATREPRAQKEQRFGFRKGSKRGGPLPAKCIQVTEVKSSTLNPVWKEHFLFEIEDVSTDQLHLDIWDHDDDVSLVEACRKLNEVIGLKGMGRYFKQIVKSARANGTAGPTEDHTDDFLGCLNIPVREVPVAGVDRWFKLEPRSSASRVQGHCHLVLKLITTQRDTAMSQRGRSGFLSHLLLLSHLLRLEHSAEEPNSSSWRGELSTPAATILCLHGAQSNLSPLQLAVLHWQVSSRHHQTCTLDYSYLLGLLEDMQAHWEEAPSLPQEQEESLADSLSAFSEFGLQLLRQLRDYFPATNSTAVHRLELLLKCLGKLQLFQPSFEICPFESELNMDIAAALKRGNREWYDRILNDKSPREQHPQCGRLHPDLPAAGASGG", "length": 572, "header": "tr|A0AA34QVM4-1|A0AA34QVM4_HUMAN Computationally mapped isoform of BAI1 associated protein 3 OS=Homo sapiens OX=9606 GN=BAIAP3 PE=4 SV=1 CANONICAL=O94812-1" }, "locus": {} }, { "isoform_ac": "A0AA34QVM8-1", "url": "", "sequence": { "sequence": "MQAHWEEAPSLPQEQEESLADSLSAFSEFGLQLLRQLRDYFPATNSTAVHRLELLLKCLGKLQLFQPSFEICPFESELNMDIAAALKRGNREWYDRILNDKSPREQPGPQRLPGLVVLADAVYDDLQFCYSVYASLFHSILNVDVFTLTFRQLERLVAEEAWVLTEELSPKMTLEVASGLFELYLTLADLQRFWDSIPGRDSRSLALAGIHAPFLPAVKLWFQVLRDQAKWRLQGAVDMDTLEPVDASSRHSSSAATAGLCLSHIQELWVRLAWPDPAQAQGLGTQLGQDVCEATLFYTELLRKKVDTQPGAAGEAVSEALCVVLNNVELVRKAAGQALKGLAWPEGATGPEGVLPRPLLSCTQALDDDLQREAHTVTAHLTSKMVGDIRKYVQHISLSPDSIQNDEAVAPLMKYLDEKLALLNASLVKGNLSRVLEALWELLLQAILQALGANRDVSADFYSRFHFTLEALVSFFHAEGQGLPLESLRDGSYKRLKEELRLHKCSTRECIEQFYLDKLKQRTLEQNRFGRLSVRCHYEAAEQRLAVEVLHAADLLPLDANGLSDPFVIVELGPPHLFPLVRSQRTQVKTRTLHPVYDELFYFSVPAEACRRRAACVLFTVMDHDWLSTNDFAGEAALGLGGVTGVARPQ", "length": 650, "header": "tr|A0AA34QVM8-1|A0AA34QVM8_HUMAN Computationally mapped isoform of BAI1 associated protein 3 OS=Homo sapiens OX=9606 GN=BAIAP3 PE=4 SV=1 CANONICAL=O94812-1" }, "locus": {} }, { "isoform_ac": "A0AA34QVM9-1", "url": "", "sequence": { "sequence": "MQAHWEEAPSLPQEQEESLADSLSAFSEFGLQLLRQLRDYFPATNSTAVHRLELLLKCLGKLQLFQPSFEICPFESELNMDIAAALKRGNREWYDRILNDKSPREQFCYSVYASLFHSILNVDVFTLTFRQLERLVAEEAWVLTEELSPKMTLEVASGLFELYLTLADLQRFWDSIPGRDSRSLALAGIHAPFLPAVKLWFQVLRDQAKWRLQGAVDMDTLEPVDASSRHSSSAATAGLCLSHIQELWVRLAWPDPAQAQGLGTQLGQDVCEATLFYTELLRKKVDTQPGAAGEAVSEALCVVLNNVELVRKAAGQALKGLAWPEGATGPEGVLPRPLLSCTQALDDDLQREAHTVTAHLTSKMVGDIRKYVQHISLSPDSIQNDEAVAPLMKYLDEKLALLNASLVKGNLSRVLEALWELLLQAILQALGANRDVSADFYSRFHFTLEALVSFFHAEGQGLPLESLRDGSYKRLKEELRLHKCSTRECIEQFYLDKLKQRTLEQNRFGRLSVRCHYEAAEQRLAVEVLHAADLLPLDANGLSDPFVIVELGPPHLFPLVRSQRTQVKTRTLHPVYDELFYFSVPAEACRRRAACVLFTVMDHDWLSTNDFAGEAALGLGGVTGVARPQVGGGARAGQPVTLHLCRPRAQVRSALRRLEGRTSKEAQEFVKKLKELEKCMEADP", "length": 684, "header": "tr|A0AA34QVM9-1|A0AA34QVM9_HUMAN Computationally mapped isoform of BAI1 associated protein 3 OS=Homo sapiens OX=9606 GN=BAIAP3 PE=4 SV=1 CANONICAL=O94812-1" }, "locus": {} }, { "isoform_ac": "A0AA34QVV4-1", "url": "", "sequence": { "sequence": "MSTLLDIKSSVLRQVQVCPSFRRRTEQDPGSASADPQEPATGAWKPGDGVEFFAHMRLMLKKGEGRQGLPCLEVPLRSGSPAPPEPVDPSLGLRALAPEEVEMLYEEALYTVLYRAGTMGPDQVDDEEALLSYLQQVFGTSLEEHTEAIERVRKAKAPTYALKVSVMRAKNLLAKDPNGFSDPYCMLGILPASDATREPRAQKEQRFGFRKGSKRGGPLPAKCIQVTEVKSSTLNPVWKEHFLFEIEDVSTDQLHLDIWDHDDDVSLVEACRKLNEVIGLKGMGRYFKQIVKSARANGTAGPTEDHTDDFLGCLNIPVREVPVAGVDRWFKLEPRSSASRVQGHCHLVLKLITTQRDTAMSQRGRSGFLSHLLLLSHLLRLEHSAEEPNSSSWRGELSTPAATILCLHGAQSNLSPLQLAVLHWQVSSRHHQTCTLDYSYLLGLLEDMQAHWEEAPSLPQEQEESLADSLSAFSEFGLQLLRQLRDYFPATNSTAVHRLELLLKCLGKLQLFQPSFEICPFESELNMDIAAALKRGNREWYDRILNDKSPREQPGPQRLPGLVVLADAVYDDLQFCYSVYASLFHSILNVDVFTLTFRQLERLVAEEAWVLTEELSPKMTLEVASGLFELYLTLADLQRFWDSIPGRDSRSLALAGIHAPFLPAVKLWFQVLRDQAKWRLQGAVDMDTLEPVDASSRHSSSAATAGLCLSHIQELWVRLAWPDPAQAQGLGTQLGQDVCEATLFYTELLRKKVDTQPGAAGEAVSEALCVVLNNVELVRKAAGQALKGLAWPEGATGPEGVLPRPLLSCTQALDDDLQREAHTVTAHLTSKMVGDIRKYVQHISLSPDSIQNDEAVAPLMKYLDEKLALLNASLVKGNLSRPWSVFSTQRVRVCPWRA", "length": 898, "header": "tr|A0AA34QVV4-1|A0AA34QVV4_HUMAN Computationally mapped isoform of BAI1 associated protein 3 OS=Homo sapiens OX=9606 GN=BAIAP3 PE=4 SV=1 CANONICAL=O94812-1" }, "locus": {} }, { "isoform_ac": "A0AA34QVV7-1", "url": "", "sequence": { "sequence": "MQAHWEEAPSLPQEQEESLADSLSAFSEFGLQLLRQLRDYFPATNSTAVHRLELLLKCLGKLQLFQPSFEICPFESELNMDIAAALKRGNREWYDRILNDKSPREQHPQCGRLHPDLPAAGASGG", "length": 125, "header": "tr|A0AA34QVV7-1|A0AA34QVV7_HUMAN Computationally mapped isoform of BAI1 associated protein 3 OS=Homo sapiens OX=9606 GN=BAIAP3 PE=4 SV=1 CANONICAL=O94812-1" }, "locus": {} }, { "isoform_ac": "A0AA34QVY1-1", "url": "", "sequence": { "sequence": "MSTLLDIKSSVLRQVQVCPSFRRRTEQDPGSASADPQEPATGAWKPGDGVEFFAHMRLMLKKGEGRQGLPCLEVPLRSGSPAPPEPVDPSLGLRALAPEEVEMLYEEALYTVLYRAGTMGPDQVDDEEALLSYLQQVFGTSLEEHTEAIERVRKAKAPTYALKVSVMRAKNLLAKDPNGFSDPYCMLGILPASDATREPRAQKEQRFGFRKGSKRGGPLPAKCIQVTEVKSSTLNPVWKEHFLFEIEDVSTDQLHLDIWDHDDDVSLVEACRKLNEVIGLKGMGRYFKQIVKSARANGTAGPTEDHTDDFLGCLNIPVREVPVAGVDRWFKLEPRSSASRVQGHCHLVLKLITTQRDTAMSQRGRSGFLSHLLLLSHLLRLEHSAEEPNSSSWRGELSTPAATILCLHGAQSNLSPLQLAVLHWQVSSRHHQTCTLDYSYLLGLLEDMQAHWEEAPSLPQEQEESLADSLSAFSEFGLQLLRQLRDYFPATNSTAVHRLELLLKCLGKLQLFQPSFEICPFESELNMDIAAALKRGNREWYDRILNDKSPREQPGPQRLPGLVVLADAVYDDLQFCYSVYASLFHSILNVDVFTLTFRQLERLVAEEAWVLTEELSPKMTLEVASGLFELYLTLADLQRFWDSIPGRDSRSLALAGIHAPFLPAVKLWFQVLRDQAKWRLQGAVDMDTLEPVDASSRHSSSAATAGLCLSHIQELWVRLAWPDPAQAQGLGTQLGQDVCEATLFYTELLRKKVDTQPGAAGEAVSEALCVVLNNVELVRKAAGQALKGLAWPEGATGPEGVLPRPLLSCTQALDDDLQREAHTVTAHLTSKMVGDIRKYVQHISLSPDSIQNDEAVAPLMKYLDEKLALLNASLVKGNLSRVLEALWELLLQAILQALGANRDVSADFYSRFHFTLEALVSFFHAEGQGLPLESLRDGSYKRLKEELRLHKCSTRECIEQFYLDKLKQRTLEQNRFGRLSVRCHYEAAEQRLAVEVLHAADLLPLDANGLSDPFVIVELGPPHLFPLVRSQRTQVKTRTLHPVYDELFYFSVPAEACRRRAACVLFTVMDHDWLSTNDFAGEAALGLGGVTGVARPQ", "length": 1097, "header": "tr|A0AA34QVY1-1|BAIP3_HUMAN Computationally mapped isoform of BAI1-associated protein 3 OS=Homo sapiens OX=9606 GN=BAIAP3 PE=1 SV=1 CANONICAL=O94812-1" }, "locus": {} }, { "isoform_ac": "A0AA34QVY3-1", "url": "", "sequence": { "sequence": "MQAHWEEAPSLPQEQEESLADSLSAFSEFGLQLLRQLRDYFPATNSTAVHRLELLLKCLGKLQLFQPSFEICPFESELNMDIAAALKRGNREWYDRILNDKSPREQPGPQRLPGLVVLADAVYDDLQFCYSVYASLFHSILNVDVFTLTFRQLERLVAEEAWVLTEELSPKMTLEVASGLFELYLTLADLQRFWDSIPGRDSRSLALAGIHAPFLPAVKLWFQVLRDQAKWRLQGAVDMDTLEPVDASSRHSSSAATAGLCLSHIQELWVRLAWPDPAQAQGLGTQLGQDVCEATLFYTELLRKKVDTQPGAAGEAVSEALCVVLNNVELVRKAAGQALKGLAWPEGATGPEGVLPRPLLSCTQALDDDLQREAHTVTAHLTSKMVGDIRKYVQHISLSPDSIQNDEAVAPLMKYLDEKLALLNASLVKGNLSRVLEALWELLLQAILQALGANRDVSADFYSRFHFTLEALVSFFHAEGQGLPLESLRDGSYKRLKEELRLHKCSTRECIEQFYLDKLKQRTLEQNRFGRLSVRCHYEAAEQRLAVEVLHAADLLPLDANGLSDPFVIVELGPPHLFPLVRSQRTQVKTRTLHPVYDELFYFSVPAEACRRRAACVLFTVMDHDWLSTNDFAGEAALGLGGVTGVARPQVGGGARAGQPVTLHLCRPRAQVRSALRRLEGRTSKEAQEFVKKLKELEKCMEADP", "length": 705, "header": "tr|A0AA34QVY3-1|A0AA34QVY3_HUMAN Computationally mapped isoform of BAI1 associated protein 3 OS=Homo sapiens OX=9606 GN=BAIAP3 PE=4 SV=1 CANONICAL=O94812-1" }, "locus": {} }, { "isoform_ac": "A0AA34QW15-1", "url": "", "sequence": { "sequence": "MSTLLDIKSSVLRQVQVCPSFRRRTEQDPGSASADPQEPATGAWKPGDGVEFFAHMRLMLKKGEGRQGLPCLEVPLRSGSPAPPEPVDPSLGLRALAPEEVEMLYEEALYTVLYRAGTMGPDQVDDEEALLSYLQQVFGTSLEEHTEAIERVRKAKAPTYALKVSVMRAKNLLAKDPNGFSDPYCMLGILPASDATREPRAQKEQRFGFRKGSKRGGPLPAKCIQVTEVKSSTLNPVWKEHFLFEIEDVSTDQLHLDIWDHDDDVSLVEACRKLNEVIGLKGMGRYFKQIVKSARANGTAGPTEDHTDDFLGCLNIPVREVPVAGVDRWFKLEPRSSASRVQGHCHLVLKLITTQRDTAMSQRGRSGFLSHLLLLSHLLRLEHSAEEPNSSSWRGELSTPAATILCLHGAQSNLSPLQLAVLHWQVSSRHHQTCTLDYSYLLGLLEDMQAHWEEAPSLPQEQEESLADSLSAFSEFGLQLLRQLRDYFPATNSTAVHRLELLLKCLGKLQLFQPSFEICPFESELNMDIAAALKRGNREWYDRILNDKSPREQFCYSVYASLFHSILNVDVFTLTFRQLERLVAEEAWVLTEELSPKMTLEVASGLFELYLTLADLQRFWDSIPGRDSRSLALAGIHAPFLPAVKLWFQVLRDQAKWRLQGAVDMDTLEPVDASSRHSSSAATAGLCLSHIQELWVRLAWPDPAQAQGLGTQLGQDVCEATLFYTELLRKKVDTQPGAAGEAVSEALCVVLNNVELVRKAAGQALKGLAWPEGATGPEGVLPRPLLSCTQALDDDLQREAHTVTAHLTSKMVGDIRKYVQHISLSPDSIQNDEAVAPLMKYLDEKLALLNASLVKGNLSRVLEALWELLLQAILQALGANRDVSADFYSRFHFTLEALVSFFHAEGQGLPLESLRDGSYKRLKEELRLHKCSTRECIEQFYLDKLKQRTLEQNRFGRLSVRCHYEAAEQRLAVEVLHAADLLPLDANGLSDPFVIVELGPPHLFPLVRSQRTQVKTRTLHPVYDELFYFSVPAEACRRRAACVLFTVMDHDWLSTNDFAGEAALGLGGVTGVARPQVGGGARAGQPVTLHLCRPRAQVRSALRRLEGRTSKEAQEFVKKLKELEKCMEADP", "length": 1131, "header": "tr|A0AA34QW15-1|BAIP3_HUMAN Computationally mapped isoform of BAI1-associated protein 3 OS=Homo sapiens OX=9606 GN=BAIAP3 PE=1 SV=1 CANONICAL=O94812-1" }, "locus": {} }, { "isoform_ac": "A0AA34QW16-1", "url": "", "sequence": { "sequence": "ALVSFFHAEGQGLPLESLRDGSYKSGLQVPALTTSTQGPLLMRFPLQRLKEELRLHKCSTRECIEQFYLDKLKQRTLEQNRFGRLSVRCHYEAAEQRLAVEVLHAADLLPLDANGLSDPFVIVELGPPHLFPLVRSQRTQVKTRTLHPVYDELFYFSVPAEACRRRAACVLFTVMDHDWLSTNDFAGEAALGLGGVTGVARPQ", "length": 203, "header": "tr|A0AA34QW16-1|BAIP3_HUMAN Computationally mapped isoform of BAI1-associated protein 3 OS=Homo sapiens OX=9606 GN=BAIAP3 PE=1 SV=1 CANONICAL=O94812-1" }, "locus": {} }, { "isoform_ac": "H3BPP9-1", "url": "", "sequence": { "sequence": "XEIEDVSTDQLHLDIWDHDDDVSLVEACRKLNEVIGLKGMGRYFKQIVKSARANGTAGPTEDHTDDFLGCLNIPVREVPVAGVDRWFKLEPRSSASRVQGHCHLVLKLITTQRDTAMSQRGRSGFLSHLLLLSHLLRLEHSAEEPNSSSWRGELSTPAATILCLHGAQSNLSPLQLAVLHWQVSSRHHQTCTLDYSYLLGLLEDMQAHWEEAPSLPQEQEESLADSLSAFSEFGLQLLRQLRDYFPATNSTAVHRLELLLKCLGKLQLFQPSFEICPFESELNMDIAAALKRGNREWYDRILNDKSPREQPGPQRLPGLVVLADAVYDDLQFCYSVYASLFHSILNVDVFTLTFRQLERLVAEEAWVLTEELSPKMTLEVASGLFELYLTLADLQRFWDSIPGRDSRSLALAGIHAPFLPAVKLWFQVLRDQAKWRLQGAVDMDTLEPVDASSRHSSSAATAGLCLSHIQELWVRLAWPDPAQAQGLGTQLGQDVCEATLFYTELLRKKVDTQPGAAGEAVSEALCVVLNNVELVRKAAGQALKGLAWPEGATGPEGVLPRPLLSCTQALDDDLQREAHTVTAHLTSKMVGDIRKYVQHISLSPDSIQNDEAVAPLMKYLDEKLALLNASLVKGNLSSRFHFTLEALVSFFHAEGQGLPLESLRDGSYKRLKEELRLHKCSTRECIEQFYLDKLKQRTLEQNRFGRLSVRCHYEAAEQRLAVEVLHAADLLPLDANGLSDPFVIVELGPPHLFPLVRSQRTQVKTRTLHPVYDELFYFSVPAEACRRRAACVLFTVMDHDWLSTNDFAGEAALGLGGVTGVARPQVGGGARAGQPVTLHLCRPRAQVRSALRRLEGRTSKEAQEFVKKLKELEKCMEADP", "length": 880, "header": "tr|H3BPP9-1|BAIP3_HUMAN Computationally mapped isoform of BAI1-associated protein 3 OS=Homo sapiens OX=9606 GN=BAIAP3 PE=1 SV=2 CANONICAL=O94812-1" }, "locus": {} }, { "isoform_ac": "O94812-1", "url": "", "sequence": { "sequence": "MRPRGAAFAAGPPGDLHLGTAIGFAGAIWRSRSPAMSTLLDIKSSVLRQVQVCPSFRRRTEQDPGSASADPQEPATGAWKPGDGVEFFAHMRLMLKKGEGRQGLPCLEVPLRSGSPAPPEPVDPSLGLRALAPEEVEMLYEEALYTVLYRAGTMGPDQVDDEEALLSYLQQVFGTSLEEHTEAIERVRKAKAPTYALKVSVMRAKNLLAKDPNGFSDPYCMLGILPASDATREPRAQKEQRFGFRKGSKRGGPLPAKCIQVTEVKSSTLNPVWKEHFLFEIEDVSTDQLHLDIWDHDDDVSLVEACRKLNEVIGLKGMGRYFKQIVKSARANGTAGPTEDHTDDFLGCLNIPVREVPVAGVDRWFKLEPRSSASRVQGHCHLVLKLITTQRDTAMSQRGRSGFLSHLLLLSHLLRLEHSAEEPNSSSWRGELSTPAATILCLHGAQSNLSPLQLAVLHWQVSSRHHQTCTLDYSYLLGLLEDMQAHWEEAPSLPQEQEESLADSLSAFSEFGLQLLRQLRDYFPATNSTAVHRLELLLKCLGKLQLFQPSFEICPFESELNMDIAAALKRGNREWYDRILNDKSPREQPGPQRLPGLVVLADAVYDDLQFCYSVYASLFHSILNVDVFTLTFRQLERLVAEEAWVLTEELSPKMTLEVASGLFELYLTLADLQRFWDSIPGRDSRSLALAGIHAPFLPAVKLWFQVLRDQAKWRLQGAVDMDTLEPVDASSRHSSSAATAGLCLSHIQELWVRLAWPDPAQAQGLGTQLGQDVCEATLFYTELLRKKVDTQPGAAGEAVSEALCVVLNNVELVRKAAGQALKGLAWPEGATGPEGVLPRPLLSCTQALDDDLQREAHTVTAHLTSKMVGDIRKYVQHISLSPDSIQNDEAVAPLMKYLDEKLALLNASLVKGNLSRVLEALWELLLQAILQALGANRDVSADFYSRFHFTLEALVSFFHAEGQGLPLESLRDGSYKRLKEELRLHKCSTRECIEQFYLDKLKQRTLEQNRFGRLSVRCHYEAAEQRLAVEVLHAADLLPLDANGLSDPFVIVELGPPHLFPLVRSQRTQVKTRTLHPVYDELFYFSVPAEACRRRAACVLFTVMDHDWLSTNDFAGEAALGLGGVTGVARPQVGGGARAGQPVTLHLCRPRAQVRSALRRLEGRTSKEAQEFVKKLKELEKCMEADP", "length": 1187, "header": "sp|O94812-1|BAIP3_HUMAN Isoform 1 of BAI1-associated protein 3 OS=Homo sapiens OX=9606 GN=BAIAP3 PE=1 SV=2 CANONICAL=O94812-1" }, "locus": { "chromosome": "16", "start_pos": 1348479, "end_pos": 1334662, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000324385.9", "url": "https://www.ensembl.org/id/ENST00000324385.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000324510.5", "url": "https://www.ensembl.org/id/ENSP00000324510.5" } ] } }, { "isoform_ac": "O94812-2", "url": "", "sequence": { "sequence": "MSTLLDIKSSVLRQVQVCPSFRRRTEQDPGSASADPQEPATGAWKPGDGVEFFAHMRLMLKKGEGRQGLPCLEAWGSPCRQSPHPGPHTQVPLRSGSPAPPEPVDPSLGLRALAPEEVEMLYEEALYTVLYRAGTMGPDQVDDEEALLSYLQQVFGTSLEEHTEAIERVRKAKAPTYALKVSVMRAKNLLAKDPNGFSDPYCMLGILPASDATREPRAQKEQRFGFRKGSKRGGPLPAKCIQVTEVKSSTLNPVWKEHFLFEIEDVSTDQLHLDIWDHDDDVSLVEACRKLNEVIGLKGMGRYFKQIVKSARANGTAGPTEDHTDDFLGCLNIPVREVPVAGVDRWFKLEPRSSASRVQGHCHLVLKLITTQRDTAMSQRGRSGFLSHLLLLSHLLRLEHSAEEPNSSSWRGELSTPAATILCLHGAQSNLSPLQLAVLHWQVSSRHHQTCTLDYSYLLGLLEDMQAHWEEAPSLPQEQEESLADSLSAFSEFGLQLLRQLRDYFPATNSTAVHRLELLLKCLGKLQLFQPSFEICPFESELNMDIAAALKRGNREWYDRILNDKSPREQPGPQRLPGLVVLADAVYDDLQFCYSVYASLFHSILNVDVFTLTFRQLERLVAEEAWVLTEELSPKMTLEVASGLFELYLTLADLQRFWDSIPGRDSRSLALAGIHAPFLPAVKLWFQVLRDQAKWRLQGAVDMDTLEPVDASSRHSSSAATAGLCLSHIQELWVRLAWPDPAQAQGLGTQLGQDVCEATLFYTELLRKKVDTQPGAAGEAVSEALCVVLNNVELVRKAAGQALKGLAWPEGATGPEGVLPRPLLSCTQALDDDLQREAHTVTAHLTSKMVGDIRKYVQHISLSPDSIQNDEAVAPLMKYLDEKLALLNASLVKGNLSRVLEALWELLLQAILQALGANRDVSADFYSRFHFTLEALVSFFHAEGQGLPLESLRDGSYKRLKEELRLHKCSTRECIEQFYLDKLKQRTLEQNRFGRLSVRCHYEAAEQRLAVEVLHAADLLPLDANGLSDPFVIVELGPPHLFPLVRSQRTQVKTRTLHPVYDELFYFSVPAEACRRRAACVLFTVMDHDWLSTNDFAGEAALGLGGVTGVARPQVGGGARAGQPVTLHLCRPRAQVRSALRRLEGRTSKEAQEFVKKLKELEKCMEADP", "length": 1169, "header": "sp|O94812-2|BAIP3_HUMAN Isoform 2 of BAI1-associated protein 3 OS=Homo sapiens OX=9606 GN=BAIAP3 PE=1 SV=2 CANONICAL=O94812-1" }, "locus": { "chromosome": "16", "start_pos": 1348479, "end_pos": 1338550, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000397488.6", "url": "https://www.ensembl.org/id/ENST00000397488.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000380625.2", "url": "https://www.ensembl.org/id/ENSP00000380625.2" } ] } }, { "isoform_ac": "O94812-3", "url": "", "sequence": { "sequence": "MSTLLDIKSSVLRQVQVCPSFRRRTEQDPGSASADPQEPATGAWKPGDGVEFFAHMRLMLKKGEGRQGLPCLEVPLRSGSPAPPEPVDPSLGLRALAPEEVDDEEALLSYLQQVFGTSLEEHTEAIERVRKAKAPTYALKVSVMRAKNLLAKDPNGFSDPYCMLGILPASDATREPRAQKEQRFGFRKGSKRGGPLPAKCIQVTEVKSSTLNPVWKEHFLFEIEDVSTDQLHLDIWDHDDDVSLVEACRKLNEVIGLKGMGRYFKQIVKSARANGTAGPTEDHTDDFLGCLNIPVREVPVAGVDRWFKLEPRSSASRVQGHCHLVLKLITTQRDTAMSQRGRSGFLSHLLLLSHLLRLEHSAEEPNSSSWRGELSTPAATILCLHGAQSNLSPLQLAVLHWQVSSRHHQTCTLDYSYLLGLLEDMQAHWEEAPSLPQEQEESLADSLSAFSEFGLQLLRQLRDYFPATNSTAVHRLELLLKCLGKLQLFQPSFEICPFESELNMDIAAALKRGNREWYDRILNDKSPREQPGPQRLPGLVVLADAVYDDLQFCYSVYASLFHSILNVDVFTLTFRQLERLVAEEAWVLTEELSPKMTLEVASGLFELYLTLADLQRFWDSIPGRDSRSLALAGIHAPFLPAVKLWFQVLRDQAKWRLQGAVDMDTLEPVDASSRHSSSAATAGLCLSHIQELWVRLAWPDPAQAQGLGTQLGQDVCEATLFYTELLRKKVDTQPGAAGEAVSEALCVVLNNVELVRKAAGQALKGLAWPEGATGPEGVLPRPLLSCTQALDDDLQREAHTVTAHLTSKMVGDIRKYVQHISLSPDSIQNDEAVAPLMKYLDEKLALLNASLVKGNLSRVLEALWELLLQAILQALGANRDVSADFYSRFHFTLEALVSFFHAEGQGLPLESLRDGSYKRLKEELRLHKCSTRECIEQFYLDKLKQRTLEQNRFGRLSVRCHYEAAEQRLAVEVLHAADLLPLDANGLSDPFVIVELGPPHLFPLVRSQRTQVKTRTLHPVYDELFYFSVPAEACRRRAACVLFTVMDHDWLSTNDFAGEAALGLGGVTGVARPQVGGGARAGQPVTLHLCRPRAQVRSALRRLEGRTSKEAQEFVKKLKELEKCMEADP", "length": 1129, "header": "sp|O94812-3|BAIP3_HUMAN Isoform 3 of BAI1-associated protein 3 OS=Homo sapiens OX=9606 GN=BAIAP3 PE=1 SV=2 CANONICAL=O94812-1" }, "locus": { "chromosome": "16", "start_pos": 1348479, "end_pos": 1338550, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000562208.5", "url": "https://www.ensembl.org/id/ENST00000562208.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000458134.1", "url": "https://www.ensembl.org/id/ENSP00000458134.1" } ] } }, { "isoform_ac": "O94812-5", "url": "", "sequence": { "sequence": "MSTLLDIKSSVLRQVQVCPSFRRRTEQDPGSASADPQEPATGAWKPGDGVEFFAHMRLMLKKGEGRQGLPCLEVPLRSGSPAPPEPVDPSLGLRALAPEEALLSYLQQVFGTSLEEHTEAIERVRKAKAPTYALKVSVMRAKNLLAKDPNGFSDPYCMLGILPASDATREPRAQKEQRFGFRKGSKRGGPLPAKCIQVTEVKSSTLNPVWKEHFLFEIEDVSTDQLHLDIWDHDDDVSLVEACRKLNEVIGLKGMGRYFKQIVKSARANGTAGPTEDHTDDFLGCLNIPVREVPVAGVDRWFKLEPRSSASRVQGHCHLVLKLITTQRDTAMSQRGRSGFLSHLLLLSHLLRLEHSAEEPNSSSWRGELSTPAATILCLHGAQSNLSPLQLAVLHWQVSSRHHQTCTLDYSYLLGLLEDMQAHWEEAPSLPQEQEESLADSLSAFSEFGLQLLRQLRDYFPATNSTAVHRLELLLKCLGKLQLFQPSFEICPFESELNMDIAAALKRGNREWYDRILNDKSPREQPGPQRLPGLVVLADAVYDDLQFCYSVYASLFHSILNVDVFTLTFRQLERLVAEEAWVLTEELSPKMTLEVASGLFELYLTLADLQRFWDSIPGRDSRSLALAGIHAPFLPAVKLWFQVLRDQAKWRLQGAVDMDTLEPVDASSRHSSSAATAGLCLSHIQELWVRLAWPDPAQAQGLGTQLGQDVCEATLFYTELLRKKVDTQPGAAGEAVSEALCVVLNNVELVRKAAGQALKGLAWPEGATGPEGVLPRPLLSCTQALDDDLQREAHTVTAHLTSKMVGDIRKYVQHISLSPDSIQNDEAVAPLMKYLDEKLALLNASLVKGNLSRVLEALWELLLQAILQALGANRDVSADFYSRFHFTLEALVSFFHAEGQGLPLESLRDGSYKRLKEELRLHKCSTRECIEQFYLDKLKQRTLEQNRFGRLSVRCHYEAAEQRLAVEVLHAADLLPLDANGLSDPFVIVELGPPHLFPLVRSQRTQVKTRTLHPVYDELFYFSVPAEACRRRAACVLFTVMDHDWLSTNDFAGEAALGLGGVTGVARPQVGGGARAGQPVTLHLCRPRAQVRSALRRLEGRTSKEAQEFVKKLKELEKCMEADP", "length": 1124, "header": "sp|O94812-5|BAIP3_HUMAN Isoform 5 of BAI1-associated protein 3 OS=Homo sapiens OX=9606 GN=BAIAP3 PE=1 SV=2 CANONICAL=O94812-1" }, "locus": { "chromosome": "16", "start_pos": 1348479, "end_pos": 1338550, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000568887.5", "url": "https://www.ensembl.org/id/ENST00000568887.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000457644.1", "url": "https://www.ensembl.org/id/ENSP00000457644.1" } ] } }, { "isoform_ac": "O94812-6", "url": "", "sequence": { "sequence": "MSTLLDIKSSVLRQVQVCPSFRRRTEQDPGSASADPQEPATGAWKPGDGVEFFAHMRLMLKKGEGRQGLPCLEVPLRSGSPAPPEPVDPSLGLRALAPEEVEMLYEEALYTVLYRAGTMGPDQVDDEEALLSYLQQVFGTSLEEHTEAIERVRKAKAPTYALKVSVMRAKNLLAKDPNGFSDPYCMLGILPASDATREPRAQKEQRFGFRKGSKRGGPLPAKCIQVTEVKSSTLNPVWKEHFLFEIEDVSTDQLHLDIWDHDDDVSLVEACRKLNEVIGLKGMGRYFKQIVKSARANGTAGPTEDHTDDFLGCLNIPVREVPVAGVDRWFKLEPRSSASRVQGHCHLVLKLITTQRDTAMSQRGRSGFLSHLLLLSHLLRLEHSAEEPNSSSWRGELSTPAATILCLHGAQSNLSPLQLAVLHWQVSSRHHQTCTLDYSYLLGLLEDMQAHWEEAPSLPQEQEESLADSLSAFSEFGLQLLRQLRDYFPATNSTAVHRLELLLKCLGKLQLFQPSFEICPFESELNMDIAAALKRGNREWYDRILNDKSPREQPGPQRLPGLVVLADAVYDDLQFCYSVYASLFHSILNVDVFTLTFRQLERLVAEEAWVLTEELSPKMTLEVASGLFELYLTLADLQRFWDSIPGRDSRSLALAGIHAPFLPAVKLWFQVLRDQAKWRLQGAVDMDTLEPVDASSRHSSSAATAGLCLSHIQELWVRLAWPDPAQAQGLGTQLGQDVCEATLFYTELLRKKVDTQPGAAGEAVSEALCVVLNNVELVRKAAGQALKGLAWPEGATGPEGVLPRPLLSCTQALDDDLQREAHTVTAHLTSKMVGDIRKYVQHISLSPDSIQNDEAVAPLMKYLDEKLALLNASLVKGNLSRVLEALWELLLQAILQALGANRDVSADFYSRFHFTLEALVSFFHAEGQGLPLESLRDGSYKRLKEELRLHKCSTRECIEQFYLDKLKQRTLEQNRFGRLSVRCHYEAAEQRLAVEVLHAADLLPLDANGLSDPFVIVELGPPHLFPLVRSQRTQVKTRTLHPVYDELFYFSVPAEACRRRAACVLFTVMDHDWLSTNDFAGEAALGLGGVTGVARPQVGGGARAGQPVTLHLCRPRAQVRSALRRLEGRTSKEAQEFVKKLKELEKCMEADP", "length": 1152, "header": "sp|O94812-6|BAIP3_HUMAN Isoform 6 of BAI1-associated protein 3 OS=Homo sapiens OX=9606 GN=BAIAP3 PE=1 SV=2 CANONICAL=O94812-1" }, "locus": { "chromosome": "16", "start_pos": 1348479, "end_pos": 1338550, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000426824.8", "url": "https://www.ensembl.org/id/ENST00000426824.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000407242.4", "url": "https://www.ensembl.org/id/ENSP00000407242.4" } ] } }, { "isoform_ac": "O94812-7", "url": "", "sequence": { "sequence": "MSTLLDIKSSVLRQVQVCPSFRRRTEQDPGSASADPQEPATGAWKPGDGVEFFAHMRLMLKKGEGRQGLPCLEVPLRSGSPAPPEPVDPSLGLRALAPEEVEMLYEEALYTVLYRAGTMGPDQVDDEEALLSYLQQVFGTSLEEHTEAIERVRKAKAPTYALKVSVMRAKNLLAKDPNGFSDPYCMLGILPASDATREPRAQKEQRFGFRKGSKRGGPLPAKCIQVTEVKSSTLNPVWKEHFLFEIEDVSTDQLHLDIWDHDDDVSLVEACRKLNEVIGLKGMGRYFKQIVKSARANGTAGPTEDHTDDFLGCLNIPVRRDTAMSQRGRSGFLSHLLLLSHLLRLEHSAEEPNSSSWRGELSTPAATILCLHGAQSNLSPLQLAVLHWQVSSRHHQTCTLDYSYLLGLLEDMQAHWEEAPSLPQEQEESLADSLSAFSEFGLQLLRQLRDYFPATNSTAVHRLELLLKCLGKLQLFQPSFEICPFESELNMDIAAALKRGNREWYDRILNDKSPREQPGPQRLPGLVVLADAVYDDLQFCYSVYASLFHSILNVDVFTLTFRQLERLVAEEAWVLTEELSPKMTLEVASGLFELYLTLADLQRFWDSIPGRDSRSLALAGIHAPFLPAVKLWFQVLRDQAKWRLQGAVDMDTLEPVDASSRHSSSAATAGLCLSHIQELWVRLAWPDPAQAQGLGTQLGQDVCEATLFYTELLRKKVDTQPGAAGEAVSEALCVVLNNVELVRKAAGQALKGLAWPEGATGPEGVLPRPLLSCTQALDDDLQREAHTVTAHLTSKMVGDIRKYVQHISLSPDSIQNDEAVAPLMKYLDEKLALLNASLVKGNLSRVLEALWELLLQAILQALGANRDVSADFYSRFHFTLEALVSFFHAEGQGLPLESLRDGSYKRLKEELRLHKCSTRECIEQFYLDKLKQRTLEQNRFGRLSVRCHYEAAEQRLAVEVLHAADLLPLDANGLSDPFVIVELGPPHLFPLVRSQRTQVKTRTLHPVYDELFYFSVPAEACRRRAACVLFTVMDHDWLSTNDFAGEAALGLGGVTGVARPQVGGGARAGQPVTLHLCRPRAQVRSALRRLEGRTSKEAQEFVKKLKELEKCMEADP", "length": 1116, "header": "sp|O94812-7|BAIP3_HUMAN Isoform 7 of BAI1-associated protein 3 OS=Homo sapiens OX=9606 GN=BAIAP3 PE=1 SV=2 CANONICAL=O94812-1" }, "locus": { "chromosome": "16", "start_pos": 1348479, "end_pos": 1338550, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000421665.6", "url": "https://www.ensembl.org/id/ENST00000421665.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000409533.2", "url": "https://www.ensembl.org/id/ENSP00000409533.2" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 629, "start_aa": "Thr", "end_pos": 629, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr629", "evidence": [ { "id": "O94812", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O94812" }, { "id": "38253038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38253038" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 631, "start_aa": "Thr", "end_pos": 631, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr631", "evidence": [ { "id": "O94812", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O94812" }, { "id": "38253038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38253038" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Induction of BAIAP3 by the EWS-WT1 chimeric fusion implicates regulated exocytosis in tumorigenesis.", "journal": "Cancer Cell", "date": "2002", "authors": "Palmer Rachel E, Lee Sean Bong, Wong Jenise C, Reynolds Paul A, Zhang Hong, Truong Vivi, Oliner Jonathan D, Gerald William L, Haber Daniel A", "evidence": [ { "database": "UniProtKB", "id": "O94812", "url": "https://www.uniprot.org/uniprot/O94812" } ], "reference": [ { "type": "PubMed", "id": "12498718", "url": "https://glygen.org/publication/PubMed/12498718" } ] }, { "title": "Genetic markers of a Munc13 protein family member, BAIAP3, are gender specifically associated with anxiety and benzodiazepine abuse in mice and humans.", "journal": "Molecular medicine (Cambridge, Mass.)", "date": "2013", "authors": "Wojcik SM, Tantra M, Stepniak B, Man KN, Muller-Ribbe K, Begemann M, Ju A, Papiol S, Ronnenberg A, Gurvich A, Shin Y, Augustin I, Brose N, Ehrenreich H", "evidence": [ { "database": "RefSeq", "id": "NP_001186025", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186025" } ], "reference": [ { "type": "PubMed", "id": "23698091", "url": "https://glygen.org/publication/PubMed/23698091" } ] }, { "title": "BAIAP3, a C2 domain-containing Munc13 protein, controls the fate of dense-core vesicles in neuroendocrine cells.", "journal": "The Journal of cell biology", "date": "2017", "authors": "Zhang X, Jiang S, Mitok KA, Li L, Attie AD, Martin TFJ", "evidence": [ { "database": "UniProtKB", "id": "O94812", "url": "https://www.uniprot.org/uniprot/O94812" }, { "database": "RefSeq", "id": "NP_001186025", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186025" } ], "reference": [ { "type": "PubMed", "id": "28626000", "url": "https://glygen.org/publication/PubMed/28626000" } ] }, { "title": "Integrated analysis of microRNA and mRNA expression profiling identifies BAIAP3 as a novel target of dysregulated hsa-miR-1972 in age-related white matter lesions.", "journal": "Aging", "date": "2021", "authors": "Huang WQ, Lin Q, Chen S, Sun L, Chen Q, Yi K, Li Z, Ma Q, Tzeng CM", "evidence": [ { "database": "RefSeq", "id": "NP_001186025", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186025" } ], "reference": [ { "type": "PubMed", "id": "33561007", "url": "https://glygen.org/publication/PubMed/33561007" } ] }, { "title": "Studying the O-GlcNAcome of human placentas using banked tissue samples.", "journal": "Glycobiology", "date": "2024-01-22", "authors": "Luna Sarai, Malard Florian, Pereckas Michaela, Aoki Mayumi, Aoki Kazahiro, Olivier-Van Stichelen Stephanie", "evidence": [ { "database": "O-GlcNAc Database", "id": "O94812", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O94812" } ], "reference": [ { "type": "PubMed", "id": "38253038", "url": "https://glygen.org/publication/PubMed/38253038" } ] }, { "title": "Cloning and characterization of BAP3 (BAI-associated protein 3), a C2 domain-containing protein that interacts with BAI1.", "journal": "Biochem. Biophys. Res. Commun.", "date": "1998", "authors": "Shiratsuchi T, Oda K, Nishimori H, Suzuki M, Takahashi E, Tokino T, Nakamura Y", "evidence": [ { "database": "UniProtKB", "id": "O94812", "url": "https://www.uniprot.org/uniprot/O94812" } ], "reference": [ { "type": "PubMed", "id": "9790924", "url": "https://glygen.org/publication/PubMed/9790924" } ] } ], "pathway": [ { "id": "hsa:8938", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:8938", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "F1LVS1-1", "protein_name": "BAI1-associated protein 3", "gene_name": "Baiap3", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MSTLLDIKSSVLRQVQVCPSFRRKTEQEPEITNSQEPPTGAWKPGDGVEFFAHMRLILKKGDGRQGLPCPEVLLRSGSPAPAEPVDPNRGLRALTQEEVEMLYEEALYTVLHRAGTMGPDQVDDEEVLLSYLQQVFGSSSEEHMEAIMRVKKAKAPTYALKVSVMRAKNLLAKDPNGFSDPYCMLGILPASSAPQESSGQKEQRFGFRKGSKRSSPLPAKCIQVTEVKSSTLNPVWKEHFLLEIEDVNTDQLHLDIWDHDDDVSLAEACRKLNEVIGLKGMTRYFKQIVKSARANGTAGPTEDHTDDFLGCLNIPIREVPVAGADRWFKLEPRSSASRVQGDCHLVLKLITTQRDTAMSQRGRSGFLSYLLLLSRVLRFEHRVEEPNSSSWRGELSGPGNTVLCLHGAQSNLSPLQLAVLHWQVSSRHHQTRTLDYGYLLGLLEDVQAHWEEAASLPQEQEESLADSFSAFSEFGLRLLRQLRDYFPATNSTAVYRLELLLKCLEKLQLFQPAFEICPFETELSMDIAAALKRGNREWYDQLLNAKSPREQPGPQRLAGLVELADIIYEDLQSCYGVYASLFHGILKVDFFTLTFRQLERLVAEEAWVLTEELSPKMNLEVASGLFELYLTLADTQRFWSCIPGRESRSLALAGIHTPFLPAVKLWLQVLRDQAKWRLQGAVDVDTLEPVDAASKHSSSAATASLCLSHIQELWVRLAWPDPAQAQGLGTQLSQDMCEASLFYTELLRKKVDTQPGAAGEAVSEQLCVVLNNVELVRRASGQALRGLAWSEGANGLEGVLPRPLLSSIQALDEDLLREAHTVTAHLTSKMVADIRKYVQHISLSPDSIQNDEAVAPLLKYLDEKLALLNDSLVKENLSRVLEALWELLLQAILQALSANRGVSADFYGRFHFTLEALVSFFHAEGQGLPLENLRDGSYKRLEEELRLHKCSTRECIEQFYLDKLKQRSLEQNRFGRLTVRCHYEAAEQRLAVEVLHAADLLPLDANGLSDPFVIVELGPPHLFPLVRSQRTQVKARTLHPVYDELFHFSVPAEACRRRGACVLFTVMDHDWLSTNDFAGEAALGLGGVSGIARPHVGGGVRPGQPITLHLRRPRAQVRSALRMLEGRTNREAQEFVKKLKELEKCMEADL", "length": 1150 }, "evidence": [ { "id": "45928571", "url": "http://www.informatics.jax.org/homology/45928571", "database": "MGI" }, { "id": "O94812", "url": "https://omabrowser.org/oma/group/O94812/", "database": "OMA" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q80TT2-2", "protein_name": "BAI1-associated protein 3", "gene_name": "Baiap3", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MSTLLDIKSSVLRQVQVCPSFRRKTEQEPEVTNSQEPPTGAWKPGDGVEFFAHMRLILKKGDGRQGLPCPEVLLRSGSPAPAEPVDPNRGLRTLTQEEVEMLYEEALYTVLHRAGTMGPDQVDDEEVLLSYLQQVFGTSSEEHMEAIMRVKKAKAPTYALKVSVMRAKNLLAKDPNGFSDPYCMLGILPASSAPQEPSGQKEQRFGFRKGSKRSSPLPAKCIQVTEVKNSTLNPVWKEHFLFEIDDVNTDQLHLDIWDHDDDVSLAEACRKLNEVIGLKGMTRYFKQIVKSARANGTAGPTEDHTDDFLGCLNIPIREVPVAGADRWFKLEPRSSASRVQGDCHLVLKLITTQRDTVMSQRGRSGFLSYLLLLSRVLRFEHRVEEPNSSSWRGELSGPGTTVLCLHGAQSNLSPLQLAVLHWQVSSRHHQTRTLDYGYLLGLLEDVQAHWEEAASLPQEQEESLADSFSAFSEFGLRLLRQLRDYFPATNSTAVYRLELLLKCLEKLQLFQPAFEICPFETELSMDIAAALKRGNREWYDQLLNTKSPREQPGPQRLAGLVELADIIYEDLQLCYGVYASLFHGILKVDFFTLTFRQLERLVAEEAWVLTEELSPKMNLEVASGLFELYLTLADTQRFWSCIPGRESRSLALAGIHTPFLPAVKLWLQVLRDQAKWRLQGAVDVDTLEPVDAASKHSSSAATASLCLSHIQELWVRLAWPDPSQAQGLGTQLSQDMCEASLFYTELLRKKVDTQPGAAGEAVSEQLCVVLNNVELVRRASGQALRGLAWSEGASGLEGVLPRPLLSCIQALDEDLHREAHTVTAHLTSKMVADIRKYIQHISLSPDSIQNDEAVAPLLKYLDEKLALLNDALVKENLNRVLEALWELLLQAILQALSANRDVSADFYGRFHFTLEALVSFFHAEGQGLPLENLRDGSYKRLQEELRLHKCSTRECIEQFYLDKLKQRSLEQNRFGRLTVRCHYEAAEQRLAVEVLHAADLLPLDANGLSDPFVIVELGPPHLFPLVRSQRTQVKARTLHPVYDELFHFSVPAEACRRRGACVLFTVMDHDWLSTNDFAGEAALGLGGISGIARPHVGGGMRPGQPITLHLRRPRAQVRSALRMLEGRTSREAQEFVKKLKELEKCMEADL", "length": 1150 }, "evidence": [ { "id": "45928571", "url": "http://www.informatics.jax.org/homology/45928571", "database": "MGI" }, { "id": "O94812", "url": "https://omabrowser.org/oma/group/O94812/", "database": "OMA" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "Q9VS41-1", "protein_name": "Unc-13-4A, isoform B", "gene_name": "unc-13-4A", "tax_id": 7227, "organism": "Drosophila melanogaster", "sequence": { "sequence": "MSFLSSMQQYVTSGISSLGLGNRRFSLSRQESSEQQSGIGGAIPGGLVSGQAQQQQQQQVPFPQQPLQQSLPQQQQQQQQQQQQQLQQQHGHAPLQQQASIGSGLGVYGTPAPPTGVVASSTCGSNYPSGGVVIGNPNATNPLLGYPKIPGGAAGPGSPSTSGSVGPGGTPQSRRQSRALECLAPPRTGSFRQRNSPLHQPDPPPRPPLAFCKRRLSWPEVDPRSNSGVQETDGSYFENFTSLGWKRENRRMSATRAAEARAEANPENERDPPAGEESIDRQDEKEKLYAEVLHTIANTVGAPAPGGQFAHYKDEMYLHAQRAFGVNPDRHYRLLHASAEDKPKIIVLSAVVIEADGLEAKDANGFSDPYCMLGIQPDENGGPPVSPLPLPPTPRALSADMSGGFDNSATDSPPHRKHSFRLSFKRREAGRREQRDSLGGPVPAKLIKATSIKPHTLTPKWNEKFKFDIDDINTDTFHLDIWDHDDESCVMDAVSRLNEVRGVRGLGRFFKQVCQSARQGSQDDFLGSVNIPLSEIPSTGLDAWFKLEARSHRSTVQGRIRLKLWLSTREDRNTVSEENHEQQIHKVEQLQRVFMQHEVTTHEPSWTWCGDLPGPALTILHQLAVQSDLSDLHCAMARYVAAAKLNRSTPLDPKFLHRLLSDVEKQWNQPNQEALSRDLEQWLADAMNGFVERSLNQIRRHRDIFPALNPPSLIRLEFLLRCLGLLGSMRAFRAVCPFNKGVRGEVVNALRKGSVMWGQTVMRESQSMPNPLSNFVTTLTADIQLGQTYYHALFDNTNGIQYFSIIYKQYDAMVGEEVYSRMAAGQVPGVRMNLSQYAVLEGDAEPVDTKPFELFLALQEFCQLKRHLSAQPQPPEKPLALSNSHEWFIPTLERWMMVSKAKALQRIRAAIRMDAICEGERIVRYSSSSVDTASTLLNIKEFWKVLNWPDEDTAIMMESQLIDVVCSAAMHYCDLIHTALADSGYYEQQGPFRCSDDMCVTVNNVEYVRRTLAEFRSDEQPLEESADNLLESSLTHMENRCERILSKLAPLMQMSLQKAMFHLAWSPDSLPANQAIVPLLEYLDCHLAALNSALLTKNFNRSLRFIWKTVLGEMSRQMETGDETDKPTHFHKRLYEALQLLIDFFHAEGQGLLLECLHTEDFWRIEQRLQFHKTDTDRLIDMFYMQRLREQLMAVMPSPYGSLAVRAYFNHDSLCVEVLHARDVVPLDPNGFSDPFVVIELLPRRVFLHCMEQQTNVHKRTLNPVFDECFEFSVTLEQCLTEGAMICFTVMDHDVLTANDFGGEAYLALGNIPGVADYSTSVDNFHGLKQIELPLMEQKDKCNPILQILEVRVNDKQAQDFVRKQKSRFIN", "length": 1371 }, "evidence": [ { "id": "O94812", "url": "https://omabrowser.org/oma/group/O94812/", "database": "OMA" } ], "common_name": "Fruit fly" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 8, "go_terms": [ { "name": "secretory vesicle", "id": "GO:0099503", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099503", "evidence": [ { "database": "UniProtKB", "id": "O94812", "url": "https://www.uniprot.org/uniprot/O94812" } ], "pmid": "" }, { "name": "GABA-ergic synapse", "id": "GO:0098982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098982", "evidence": [ { "database": "UniProtKB", "id": "O94812", "url": "https://www.uniprot.org/uniprot/O94812" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "O94812", "url": "https://www.uniprot.org/uniprot/O94812" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "O94812", "url": "https://www.uniprot.org/uniprot/O94812" } ], "pmid": "" }, { "name": "trans-Golgi network membrane", "id": "GO:0032588", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032588", "evidence": [ { "database": "UniProtKB", "id": "O94812", "url": "https://www.uniprot.org/uniprot/O94812" } ], "pmid": "" }, { "name": "late endosome membrane", "id": "GO:0031902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031902", "evidence": [ { "database": "UniProtKB", "id": "O94812", "url": "https://www.uniprot.org/uniprot/O94812" } ], "pmid": "" }, { "name": "recycling endosome membrane", "id": "GO:0055038", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055038", "evidence": [ { "database": "UniProtKB", "id": "O94812", "url": "https://www.uniprot.org/uniprot/O94812" } ], "pmid": "" }, { "name": "presynapse", "id": "GO:0098793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098793", "evidence": [ { "database": "UniProtKB", "id": "O94812", "url": "https://www.uniprot.org/uniprot/O94812" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 4, "go_terms": [ { "name": "phospholipid binding", "id": "GO:0005543", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005543", "evidence": [ { "database": "UniProtKB", "id": "O94812", "url": "https://www.uniprot.org/uniprot/O94812" } ], "pmid": "" }, { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "O94812", "url": "https://www.uniprot.org/uniprot/O94812" } ], "pmid": "" }, { "name": "syntaxin binding", "id": "GO:0019905", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019905", "evidence": [ { "database": "UniProtKB", "id": "O94812", "url": "https://www.uniprot.org/uniprot/O94812" } ], "pmid": "" }, { "name": "SNARE binding", "id": "GO:0000149", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000149", "evidence": [ { "database": "UniProtKB", "id": "O94812", "url": "https://www.uniprot.org/uniprot/O94812" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 9, "go_terms": [ { "name": "G protein-coupled receptor signaling pathway", "id": "GO:0007186", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007186", "evidence": [ { "database": "UniProtKB", "id": "O94812", "url": "https://www.uniprot.org/uniprot/O94812" } ], "pmid": "" }, { "name": "positive regulation of insulin secretion involved in cellular response to glucose stimulus", "id": "GO:0035774", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035774", "evidence": [ { "database": "UniProtKB", "id": "O94812", "url": "https://www.uniprot.org/uniprot/O94812" } ], "pmid": "" }, { "name": "regulation of behavior", "id": "GO:0050795", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050795", "evidence": [ { "database": "UniProtKB", "id": "O94812", "url": "https://www.uniprot.org/uniprot/O94812" } ], "pmid": "" }, { "name": "retrograde transport, endosome to Golgi", "id": "GO:0042147", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042147", "evidence": [ { "database": "UniProtKB", "id": "O94812", "url": "https://www.uniprot.org/uniprot/O94812" } ], "pmid": "" }, { "name": "exocytosis", "id": "GO:0006887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006887", "evidence": [ { "database": "UniProtKB", "id": "O94812", "url": "https://www.uniprot.org/uniprot/O94812" } ], "pmid": "" }, { "name": "regulation of synaptic transmission, GABAergic", "id": "GO:0032228", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032228", "evidence": [ { "database": "UniProtKB", "id": "O94812", "url": "https://www.uniprot.org/uniprot/O94812" } ], "pmid": "" }, { "name": "regulation of dense core granule exocytosis", "id": "GO:1905413", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905413", "evidence": [ { "database": "UniProtKB", "id": "O94812", "url": "https://www.uniprot.org/uniprot/O94812" } ], "pmid": "" }, { "name": "positive 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