{ "uniprot_canonical_ac": "O15409-1", "uniprot_ac": "O15409", "uniprot_id": "FOXP2_HUMAN", "mass": { "chemical_mass": 79919.0, "monoisotopic_mass": 79919.0 }, "refseq": { "ac": "NP_001166237", "name": "forkhead box protein P2 isoform V", "summary": "This gene encodes a member of the forkhead/winged-helix (FOX) family of transcription factors. It is expressed in fetal and adult brain as well as in several other organs such as the lung and gut. The protein product contains a FOX DNA-binding domain and a large polyglutamine tract and is an evolutionarily conserved transcription factor, which may bind directly to approximately 300 to 400 gene promoters in the human genome to regulate the expression of a variety of genes. This gene is required for proper development of speech and language regions of the brain during embryogenesis, and may be involved in a variety of biological pathways and cascades that may ultimately influence language development. Mutations in this gene cause speech-language disorder 1 (SPCH1), also known as autosomal dominant speech and language disorder with orofacial dyspraxia. Multiple alternative transcripts encoding different isoforms have been identified in this gene.[provided by RefSeq, Feb 2010].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001166237" }, "gene_names": [ { "name": "FOXP2", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O15409", "id": "O15409" }, { "name": "CAGH44; SPCH1; TNRC10", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001166237", "id": "NP_001166237" }, { "name": "CAGH44", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O15409", "id": "O15409" }, { "name": "FOXP2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001166237", "id": "NP_001166237" }, { "name": "TNRC10", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O15409", "id": "O15409" }, { "name": "hCG_1813384", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O15409", "id": "O15409" } ], "protein_names": [ { "name": "Forkhead box protein P2", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O15409" }, { "name": "CAG repeat protein 44", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15409" }, { "name": "Trinucleotide repeat-containing gene 10 protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15409" }, { "name": "forkhead box protein P2 isoform V", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001166237", "id": "NP_001166237" }, { "name": "trinucleotide repeat containing 10; forkhead/winged-helix transcription factor; CAG repeat protein 44; forkhead box protein P2; trinucleotide repeat-containing gene 10 protein", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001166237", "id": "NP_001166237" } ], "function": [ { "annotation": "Disease-causing mutations in FOXP2 map either to the DNA binding surface or the domain-swapping dimer interface, functionally corroborating the crystal structure.", "evidence": [ { "database": "RefSeq", "id": "NP_001166237", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001166237" }, { "database": "PubMed", "id": "16407075", "url": "https://glygen.org/publication/PubMed/16407075" } ] }, { "annotation": "FOXP2 is disrupted by a translocation in CS, a child with severe speech/language disorder. Moreover, a point mutation, altering a critical residue of the forkhead domain, segregates with speech/language deficits in all 15 affected members of family KE.", "evidence": [ { "database": "RefSeq", "id": "NP_001166237", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001166237" }, { "database": "PubMed", "id": "11586359", "url": "https://glygen.org/publication/PubMed/11586359" } ] }, { "annotation": "FOXP2 suppresses the proliferation, invasion, and aerobic glycolysis of hepatocellular carcinoma cells by regulating the KDM5A/FBP1 axis.", "evidence": [ { "database": "RefSeq", "id": "NP_001166237", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001166237" }, { "database": "PubMed", "id": "37713600", "url": "https://glygen.org/publication/PubMed/37713600" } ] }, { "annotation": "Human FOXP2 contains changes in amino-acid coding and a pattern of nucleotide polymorphism, which strongly suggest that this gene has been the target of selection during recent human evolution.", "evidence": [ { "database": "RefSeq", "id": "NP_001166237", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001166237" }, { "database": "PubMed", "id": "12192408", "url": "https://glygen.org/publication/PubMed/12192408" } ] }, { "annotation": "Human-specific changes in two functional enhancers of FOXP2. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001166237", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001166237" }, { "database": "PubMed", "id": "37114314", "url": "https://glygen.org/publication/PubMed/37114314" } ] }, { "annotation": "Observational study of gene-disease association. (HuGE Navigator)", "evidence": [ { "database": "RefSeq", "id": "NP_001166237", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001166237" }, { "database": "PubMed", "id": "12655497", "url": "https://glygen.org/publication/PubMed/12655497" } ] }, { "annotation": "This gene encodes a member of the forkhead/winged-helix (FOX) family of transcription factors. It is expressed in fetal and adult brain as well as in several other organs such as the lung and gut. The protein product contains a FOX DNA-binding domain and a large polyglutamine tract and is an evolutionarily conserved transcription factor, which may bind directly to approximately 300 to 400 gene promoters in the human genome to regulate the expression of a variety of genes. This gene is required for proper development of speech and language regions of the brain during embryogenesis, and may be involved in a variety of biological pathways and cascades that may ultimately influence language development. Mutations in this gene cause speech-language disorder 1 (SPCH1), also known as autosomal dominant speech and language disorder with orofacial dyspraxia. Multiple alternative transcripts encoding different isoforms have been identified in this gene.[provided by RefSeq, Feb 2010].", "evidence": [ { "database": "RefSeq", "id": "NP_001166237", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001166237" } ] }, { "annotation": "Transcriptional repressor that may play a role in the specification and differentiation of lung epithelium. May also play a role in developing neural, gastrointestinal and cardiovascular tissues. Can act with CTBP1 to synergistically repress transcription but CTPBP1 is not essential. Plays a role in synapse formation by regulating SRPX2 levels. Involved in neural mechanisms mediating the development of speech and language.", "evidence": [ { "database": "UniProtKB", "id": "O15409", "url": "https://www.uniprot.org/uniprot/O15409#function" } ] } ], "disease": [ { "disease_id": "DOID:0111275", "recommended_name": { "id": "DOID:0111275", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111275", "name": "speech-language disorder-1", "description": "A speech disorder characterized by severe orofacial dyspraxia resulting in largely incomprehensible speech that has_material_basis_in heterozygous mutation in FOXP2 on 7q31.1." }, "synonyms": [ { "id": "DOID:0111275", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111275", "name": "CAS", "description": "" }, { "id": "DOID:0111275", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111275", "name": "speech and language disorder with orofacial dyspraxia", "description": "" }, { "id": "DOID:0111275", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111275", "name": "articulatory apraxia", "description": "" }, { "id": "DOID:0111275", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111275", "name": "childhood apraxia of speech", "description": "" }, { "id": "DOID:0111275", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111275", "name": "developmental apraxia of speech", "description": "" }, { "id": "DOID:0111275", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111275", "name": "developmental verbal dyspraxia", "description": "" }, { "id": "DOID:0111275", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111275", "name": "speech-language disorder type 1", "description": "" }, { "id": "MONDO:0011184", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011184", "name": "childhood apraxia of speech", "description": "" }, { "id": "MONDO:0011184", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011184", "name": "CAS", "description": "" }, { "id": "MONDO:0011184", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011184", "name": "childhood apraxia of speech", "description": "" }, { "id": "MONDO:0011184", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011184", "name": "developmental verbal dyspraxia", "description": "" }, { "id": "MONDO:0011184", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011184", "name": "speech and language disorder with orofacial dyspraxia", "description": "" }, { "id": "MONDO:0011184", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011184", "name": "speech-language disorder type 1", "description": "" }, { "id": "MONDO:0011184", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011184", "name": "SPCH1", "description": "" }, { "id": "MONDO:0011184", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011184", "name": "articulatory apraxia", "description": "" }, { "id": "MONDO:0011184", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011184", "name": "das", "description": "" }, { "id": "MONDO:0011184", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011184", "name": "developmental apraxia of speech", "description": "" }, { "id": "MONDO:0011184", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011184", "name": "developmental verbal apraxia", "description": "" }, { "id": "MONDO:0011184", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011184", "name": "speech-language disorder 1", "description": "" }, { "id": "MONDO:0011184", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011184", "name": "speech-language disorder-1", "description": "" }, { "id": "MIM:602081", "resource": "MIM", "url": "https://www.omim.org/entry/602081", "name": "Speech-language disorder 1", "description": "Speech-language disorder 1" } ], "evidence": [ { "id": "602081", "database": "MIM", "url": "https://www.omim.org/entry/602081" } ] } ], "snv": [ { "evidence": [ { "id": "rs940890058", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs940890058" }, { "id": "rs940890058", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs940890058#frequency_tab" }, { "id": "rs940890058", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs940890058" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 290, "end_pos": 290, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DLT->NLT).", "chr_id": "7", "chr_pos": "114642502", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D290", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1039811463", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1039811463" }, { "id": "rs1039811463", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1039811463#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 305, "end_pos": 305, "sequence_org": "S", "sequence_mut": "A", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->A).", "chr_id": "7", "chr_pos": "114642598", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S305", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O15409", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O15409" }, { "id": "rs867418322", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs867418322" }, { "id": "rs867418322", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs867418322" }, { "id": "rs867418322", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs867418322" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 305, "end_pos": 305, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "F", "comment": "Somatic mutation passed 1 out of 6 filters: o-glyco-site-loss (S->F).", "chr_id": "7", "chr_pos": "114642548", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S305", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs889178260", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs889178260" }, { "id": "rs889178260", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs889178260#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 305, "end_pos": 305, "sequence_org": "S", "sequence_mut": "L", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->L).", "chr_id": "7", "chr_pos": "114642557", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S305", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs753394697", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753394697" }, { "id": "rs753394697", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753394697" }, { "id": "rs753394697", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs753394697" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 305, "end_pos": 305, "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->R).", "chr_id": "7", "chr_pos": "114642609", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S305", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O15409", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O15409" } ], "glycoeffect": [], "start_pos": 400, "end_pos": 400, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "7", "chr_pos": "114653941", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "E400", "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": 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"MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, 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}, { "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": "Yes", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O15409", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15409" } ], "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", 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"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": "Yes", "trend": "down", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O15409", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15409" } ], "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 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"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 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"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": "O15409", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15409" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15409" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine 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"resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "O15409", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15409" } ], "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": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O15409", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15409" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "O15409", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15409" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "O15409", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15409" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "O15409", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15409" } ], "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": 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"categories": [ "Protein Classification" ] }, { "id": "FOXP2", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOXP2", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "93986", "url": "https://www.ncbi.nlm.nih.gov/gene/93986", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "13875", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=13875", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "O15409", "url": "https://www.ebi.ac.uk/intact/interactors/id:O15409*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR001766", "url": "https://www.ebi.ac.uk/interpro/entry/IPR001766", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR030456", "url": "https://www.ebi.ac.uk/interpro/entry/IPR030456", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR032354", "url": "https://www.ebi.ac.uk/interpro/entry/IPR032354", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036388", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036388", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036390", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036390", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR047412", "url": "https://www.ebi.ac.uk/interpro/entry/IPR047412", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:93986", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:93986", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "602081", "url": "http://www.omim.org/entry/602081", "database": "MIM", "categories": [ "Other" ] }, { "id": "605317", "url": "http://www.omim.org/entry/605317", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O15409", "url": "https://www.nextprot.org/entry/NX_O15409", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "O15409", "url": "https://oglcnac.org/atlas/detail/O15409", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "O15409", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O15409", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "XHLNNEH", "url": "https://omabrowser.org/oma/group/XHLNNEH/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "5385885at2759", "url": "http://www.orthodb.org/?query=5385885at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR45796", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR45796", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR45796:SF1", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR45796:SF1", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR45796:SF9", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR45796:SF9", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "2A07", "url": "https://www.rcsb.org/structure/2A07", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "2AS5", "url": "https://www.rcsb.org/structure/2AS5", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF00250", "url": "http://pfam.xfam.org/family/PF00250", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF16159", "url": "http://pfam.xfam.org/family/PF16159", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O15409", "url": "https://pharos.nih.gov/targets/O15409", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O15409", "url": "http://purl.obolibrary.org/obo/PR_O15409", "database": "PRO", "categories": [ "Protein" ] }, { "id": "NP_001166237", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001166237", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "A0A0U1RQE0", "url": "https://www.uniprot.org/uniprot/A0A0U1RQE0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0U1RQE0-1", "url": "https://www.uniprot.org/uniprot/A0A0U1RQE0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0U1RQE6", "url": "https://www.uniprot.org/uniprot/A0A0U1RQE6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0U1RQE6-1", "url": "https://www.uniprot.org/uniprot/A0A0U1RQE6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0U1RQM2", "url": "https://www.uniprot.org/uniprot/A0A0U1RQM2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0U1RQM2-1", "url": "https://www.uniprot.org/uniprot/A0A0U1RQM2-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0U1RQR8", "url": "https://www.uniprot.org/uniprot/A0A0U1RQR8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0U1RQR8-1", "url": "https://www.uniprot.org/uniprot/A0A0U1RQR8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0U1RQY3", "url": "https://www.uniprot.org/uniprot/A0A0U1RQY3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0U1RQY3-1", "url": "https://www.uniprot.org/uniprot/A0A0U1RQY3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A994J3Y0", "url": "https://www.uniprot.org/uniprot/A0A994J3Y0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A994J3Y0-1", "url": "https://www.uniprot.org/uniprot/A0A994J3Y0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A994J6H2", "url": "https://www.uniprot.org/uniprot/A0A994J6H2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A994J6H2-1", "url": "https://www.uniprot.org/uniprot/A0A994J6H2-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A994J6W1", "url": "https://www.uniprot.org/uniprot/A0A994J6W1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A994J6W1-1", "url": "https://www.uniprot.org/uniprot/A0A994J6W1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A8MTU2", "url": "https://www.uniprot.org/uniprot/A8MTU2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A8MTU2-1", "url": "https://www.uniprot.org/uniprot/A8MTU2-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A8MUV4", "url": "https://www.uniprot.org/uniprot/A8MUV4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A8MUV4-1", "url": "https://www.uniprot.org/uniprot/A8MUV4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JQP8", "url": "https://www.uniprot.org/uniprot/C9JQP8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JQP8-1", "url": "https://www.uniprot.org/uniprot/C9JQP8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8WDL6", "url": "https://www.uniprot.org/uniprot/F8WDL6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8WDL6-1", "url": "https://www.uniprot.org/uniprot/F8WDL6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O15409", "url": "https://www.uniprot.org/uniprot/O15409", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O15409-1", "url": "https://www.uniprot.org/uniprot/O15409-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O15409-2", "url": "https://www.uniprot.org/uniprot/O15409-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O15409-4", "url": "https://www.uniprot.org/uniprot/O15409-4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O15409-5", "url": "https://www.uniprot.org/uniprot/O15409-5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O15409-6", "url": "https://www.uniprot.org/uniprot/O15409-6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O15409-7", "url": "https://www.uniprot.org/uniprot/O15409-7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O15409-8", "url": "https://www.uniprot.org/uniprot/O15409-8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O15409-9", "url": "https://www.uniprot.org/uniprot/O15409-9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q0PRL4", "url": "https://www.uniprot.org/uniprot/Q0PRL4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q0PRL4-1", "url": "https://www.uniprot.org/uniprot/Q0PRL4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q75MZ5", "url": "https://www.uniprot.org/uniprot/Q75MZ5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q75MZ5-1", "url": "https://www.uniprot.org/uniprot/Q75MZ5-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q8N6B5", "url": "https://www.uniprot.org/uniprot/Q8N6B5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q8N6B5-1", "url": "https://www.uniprot.org/uniprot/Q8N6B5-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MMQESATETISNSSMNQNGMSTLSSQLDAGSRDGRSSGDTSSEVSTVELLHLQQQQALQAARQLLLQQQTSGLKSPKSSDKQRPLQVPVSVAMMTPQVITPQQMQQILQQQVLSPQQLQALLQQQQAVMLQQQQLQEFYKKQQEQLHLQLLQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQHPGKQAKEQQQQQQQQQQLAAQQLVFQQQLLQMQQLQQQQHLLSLQRQGLISIPPGQAALPVQSLPQAGLSPAEIQQLWKEVTGVHSMEDNGIKHGGLDLTTNNSSSTTSSNTSKASPPITHHSIVNGQSSVLSARRDSSSHEETGASHTLYGHGVCKWPGCESICEDFGQFLKHLNNEHALDDRSTAQCRVQMQVVQQLEIQLSKERERLQAMMTHLHMRPSEPKPSPKPLNLVSSVTMSKNMLETSPQSLPQTPTTPTAPVTPITQGPSVITPASVPNVGAIRRRHSDKYNIPMSSEIAPNYEFYKNADVRPPFTYATLIRQAIMESSDRQLTLNEIYSWFTRTFAYFRRNAATWKNAVRHNLSLHKCFVRVENVKGAVWTVDEVEYQKRRSQKITGSPTLVKNIPTSLGYGAALNASLQAALAESSLPLLSNPGLINNASSGLLQAVHEDLNGSLDHIDSNGNSSPGCSPQPHIHSIHVKEEPVIAEDEDCPMSLVTTANHSPELEDDREIEEEPLSEDLE", "length": 715, "header": "sp|O15409-1|FOXP2_HUMAN Isoform 1 of Forkhead box protein P2 OS=Homo sapiens OX=9606 GN=FOXP2 PE=1 SV=2 CANONICAL=O15409-1" }, "isoforms": [ { "isoform_ac": "A0A0U1RQE0-1", "url": "", "sequence": { "sequence": "MMQESATETISNSSMNQNGMSTLSSQLDAGSRDGRSSGDTSSEVSTVELLHLQQQQALQAARQLLLQQQTSGLKSPKSSDKQRPLQVPVSVAMMTPQVITPQQMQQILQQQVLSPQQLQALLQQQQAVMLQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQHPGKQAKEQQQQQQQQQQQLAAQQLVFQQQLLQMQQLQQQQHLLSLQRQGLISIPPGQAALPVQSLPQAGLSPAEIQQLWKEVTGVHSMEDNGIKHGGLDLTTNNSSSTTSSNTSKASPPITHHSIVNGQSSVLSARRDSSSHEETGASHTLYGHGVCKWPGCESICEDFGQFLKHLNNEHALDDRSTAQCRVQMQVVQQLEIQLSKERERLQAMMTHLHMRPSEPKPSPKPLNLVSSVTMSKNMLETSPQSLPQTPTTPTAPVTPITQGPSVITPASVPNVGAIRRRHSDKYNIPMSSEIAPNYEFYKNADVRPPFTYATLIRQAIMESSDRQLTLNEIYSWFTRTFAYFRRNAATWKNAVRHNLSLHKCFVRVENVKGAVWTVDEVEYQKRRSQKITGSPTLVKNIPTSLGYGAALN", "length": 589, "header": "tr|A0A0U1RQE0-1|FOXP2_HUMAN Computationally mapped isoform of Forkhead box protein P2 OS=Homo sapiens OX=9606 GN=FOXP2 PE=1 SV=2 CANONICAL=O15409-1" }, "locus": { "chromosome": "7", "start_pos": 114663507, "end_pos": 114426512, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000634623.1", "url": "https://www.ensembl.org/id/ENST00000634623.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000488944.1", "url": "https://www.ensembl.org/id/ENSP00000488944.1" } ] } }, { "isoform_ac": "A0A0U1RQE6-1", "url": "", "sequence": { "sequence": "XLLQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQHPGKQAKEQQQQQLAAQQLVFQQQLLQMQQLQQQQHLLSLQRQGLISIPPGQAALPVQSLPQAGLSPAEIQQLWKEVTGVHSMEDNGIKHGGLDLTTNNSSSTTSSNTSKASPPITHHSIVNGQSSVLSARRDSSSHEETGASHTLYGHGVCKWPGCESICEDFGQFLKHLNNEHALDDRSTAQC", "length": 228, "header": "tr|A0A0U1RQE6-1|FOXP2_HUMAN Computationally mapped isoform of Forkhead box protein P2 OS=Homo sapiens OX=9606 GN=FOXP2 PE=1 SV=2 CANONICAL=O15409-1" }, "locus": { "chromosome": "7", "start_pos": 114652252, "end_pos": 114629854, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000635563.1", "url": "https://www.ensembl.org/id/ENST00000635563.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000488954.1", "url": "https://www.ensembl.org/id/ENSP00000488954.1" } ] } }, { "isoform_ac": "A0A0U1RQM2-1", "url": "", "sequence": { "sequence": "MMQESATETISNSSMNQNGMSTLSSQLDAGSRDGRSSGDTSSEVSTVELLHLQQQQALQAARQLLLQQQTSGLKSPKSSDKQRPLQVPVSVAMMTPQVITPQQMQQILQQQVLSPQQLQALLQQQQAVMLQQQQLQEFYKKQQEQLHLQLLQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQHPGKQAKEQQQQQQQQQQQLAAQQLVFQQQLLQMQQLQQQQHLLSLQRQGLISIPPGQAALPVQSLPQAGLSPAEIQQLWKEVTGVHSMEDNGIKHGGLDLTTNNSSSTTSSNTSKASPPITHHSIVNGQSSVLSARRDSSSHEETGASHTLYGHGVCKWPGCESICEDFGQFLKHLNNEHALDDRSTAQCRVQMQVVQQLEIQLSKERERLQAMMTHLHMRPSEPKPSPKPLNLVSSVTMSKNMLETSPQSLPQTPTTPTAPVTPITQGPSVITPASVPNVGAIRRRHSDKYNIPMSSEIAPNYEFYKNADVRPPFTYATLIRQAIMESSDRQLTLNEIYSWFTRTFAYFRRNAATWKNAVRHNLSLHKCFVRVENVKGAVWTVDEVEYQKRRSQKITGSPTLVKNIPTSLGYGAALNASLQAALAESSLPLLSNPGLINNASSGLLQAVHEDLNGSLDHIDSNGNSSPGCSPQPHIHSIHVKEEPVIAEDEDCPMSLVTTANHSPELEDDREIEEEPLSEDLE", "length": 716, "header": "tr|A0A0U1RQM2-1|FOXP2_HUMAN Computationally mapped isoform of Forkhead box protein P2 OS=Homo sapiens OX=9606 GN=FOXP2 PE=1 SV=1 CANONICAL=O15409-1" }, "locus": { "chromosome": "7", "start_pos": 114689923, "end_pos": 114426512, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000635638.1", "url": "https://www.ensembl.org/id/ENST00000635638.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000489073.1", "url": "https://www.ensembl.org/id/ENSP00000489073.1" } ] } }, { "isoform_ac": "A0A0U1RQR8-1", "url": "", "sequence": { "sequence": "MMQESATETISNSSMNQNGMSTLSSQLDAGSRDGRSSGDTSSEVSTVELLHLQQQQALQAARQLLLQQQTSGLKSPKSSDKQRPLQVPVSVAMMTPQVITPQQMQQILQQQVLSPQQLQALLQQQQAVMLQQLLQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQHPGKQAKEQQQQQQQQQQLAAQQLVFQQQLLQMQQLQQQQHLLSLQRQGLISIPPGQAALPVQSLPQAGLSPAEIQQLWKEVTGVHSMEDNGIKHGGLDLTTNNSSSTTSSNTSKASPPITHHSIVNGQSSVLSARRDSSSHEETGASHTLYGHGVCKWPGCESICEDFGQFLKHLNNEHALDDRSTAQCRVQMQVVQQLEIQLSKERERLQAMMTHLHMRPSEPKPSPKPLNLVSSVTMSKNMLETSPQSLPQTPTTPTAPVTPITQGPSVITPASVPNVGAIRRRHSDKYNIPMSSEIAPNYEFYKNADVRPPFTYATLIRQAIMESSDRQLTLNEIYSWFTRTFAYFRRNAATWKNAVRHNLSLHKCFVRVENVKGAVWTVDEVEYQKRRSQKITGSPTLVKNIPTSLGYGAALNASLQAALAESSLPLLSNPGLINNASSGLLQAVHEDLNGSLDHIDSNGNSSPGCSPQPHIHSIHVKEEPVIAEDEDCPMSLVTTANHSPELEDDREIEEEPLSEDLE", "length": 698, "header": "tr|A0A0U1RQR8-1|FOXP2_HUMAN Computationally mapped isoform of Forkhead box protein P2 OS=Homo sapiens OX=9606 GN=FOXP2 PE=1 SV=1 CANONICAL=O15409-1" }, "locus": { "chromosome": "7", "start_pos": 114689923, "end_pos": 114426512, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000634411.1", "url": "https://www.ensembl.org/id/ENST00000634411.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000489135.1", "url": "https://www.ensembl.org/id/ENSP00000489135.1" } ] } }, { "isoform_ac": "A0A0U1RQY3-1", "url": "", "sequence": { "sequence": "MMQESATETISNSSMNQNGMSTLSSQLDAGSRDGRSSGDTSSEVSTVELLHLQQQQALQAARQLLLQQQTSGLKSPKSSDKQRPLQVPVSVAMMTPQVITPQQMQQILQQQVLSPQQLQALLQQQQAVMLQQDFLDSGLENFRAALEKNQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQHPGKQAKEQQQQQQQQQQLAAQQLVFQQQLLQMQQLQQQQHLLSLQRQGLISIPPGQAALPVQSLPQAGLSPAEIQQLWKEVTGVHSMEDNGIKHGGLDLTTNNSSSTTSSNTSKASPPITHHSIVNGQSSVLSARRDSSSHEETGASHTLYGHGVCKWPGCESICEDFGQFLKHLNNEHALDDRSTAQCRVQMQVVQQLEIQLSKERERLQAMMTHLHMRPSEPKPSPKPLNLVSSVTMSKNMLETSPQSLPQTPTTPTAPVTPITQGPSVITPASVPNVGAIRRRHSDKYNIPMSSEIAPNYEFYKNADVRPPFTYATLIRQAIMESSDRQLTLNEIYSWFTRTFAYFRRNAATWKNAVRHNLSLHKCFVRVENVKGAVWTVDEVEYQKRRSQKITGSPTLVKNIPTSLGYGAALNASLQAALAESSLPLLSNPGLINNASSGLLQAVHEDLNGSLDHIDSNGNSSPGCSPQPHIHSIHVKEEPVIAEDEDCPMSLVTTANHSPELEDDREIEEEPLSEDLE", "length": 712, "header": "tr|A0A0U1RQY3-1|A0A0U1RQY3_HUMAN Computationally mapped isoform of Forkhead box P2 OS=Homo sapiens OX=9606 GN=FOXP2 PE=1 SV=1 CANONICAL=O15409-1" }, "locus": { "chromosome": "7", "start_pos": 114689923, "end_pos": 114426512, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000703612.1", "url": "https://www.ensembl.org/id/ENST00000703612.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000515396.1", "url": "https://www.ensembl.org/id/ENSP00000515396.1" } ] } }, { "isoform_ac": "A0A994J3Y0-1", "url": "", "sequence": { "sequence": "MMQESATETISNSSMNQNGMSTLSSQLDAGSRDGRSSGDTSSEVSTVELLHLQQQQALQAARQLLLQQQTSGLKSPKSSDKQRPLQVPVSVAMMTPQVITPQQMQQILQQQVLSPQQLQALLQQQQAVMLQQQQLQEFYKKQQEQLHLQLLQQQQQQQQQQQQQQQQQQQ", "length": 170, "header": "tr|A0A994J3Y0-1|A0A994J3Y0_HUMAN Computationally mapped isoform of Forkhead box P2 OS=Homo sapiens OX=9606 GN=FOXP2 PE=1 SV=1 CANONICAL=O15409-1" }, "locus": { "chromosome": "7", "start_pos": 114629918, "end_pos": 114426512, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000703615.1", "url": "https://www.ensembl.org/id/ENST00000703615.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000515399.1", "url": "https://www.ensembl.org/id/ENSP00000515399.1" } ] } }, { "isoform_ac": "A0A994J6H2-1", "url": "", "sequence": { "sequence": "XISIPPGQAALPVQSLPQAGLSPAEIQQLWKEVTGVHSMEDNGIKHGGLDLTTNNSSSTTSSNTSKASPPITHHSIVNGQSSVLSARRDSSSHEETGASHTLYGHGVCKWPGCESICEDFGQFLKHLNNEHALDDRSTAQCRVQMQVVQQLEIQLSKERERLQAMMTHLHMRPSEPKPSPKPNAVRHNLSLHKCFVRVENVKGAVWTVDEVEYQKRRSQKITGSPTLVKNIPTSLGYGAALNASLQAALAESSLPLLSNPGLINNASSGLLQAVHEDLNGSLDHIDSNGNSSPGCSPQPHIHSIHVKEEPVIAEDEDCPMSLVTTANHSPELEDDREIEEE", "length": 341, "header": "tr|A0A994J6H2-1|FOXP2_HUMAN Computationally mapped isoform of Forkhead box protein P2 OS=Homo sapiens OX=9606 GN=FOXP2 PE=1 SV=1 CANONICAL=O15409-1" }, "locus": { "chromosome": "7", "start_pos": 114689903, "end_pos": 114631653, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000703618.1", "url": "https://www.ensembl.org/id/ENST00000703618.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000515402.1", "url": "https://www.ensembl.org/id/ENSP00000515402.1" } ] } }, { "isoform_ac": "A0A994J6W1-1", "url": "", "sequence": { "sequence": "MMQESATETISNSSMNQNGMSTLSSQLDAGSRDGRSSGDTSSEVSTVELLHLQQQQALQAARQLLLQQQTSGLKSPKSSDKQRPLQELLPETKLCICGHSSGDGHPHNTFAVPVSVAMMTPQVITPQQMQQILQQQVLSPQQLQALLQQQQAVMLQQDFLDSGLENFRAALEKNQQLQEFYKKQQEQLHLQLLQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQHPGKQAKEQQQQQQQQQQLAAQQLVFQQQLLQMQQLQQQQHLLSLQRQGLISIPPGQAALPVQSLPQAGLSPAEIQQLWKEVTGVHSMEDNGIKHGGLDLTTNNSSSTTSSNTSKASPPITHHSIVNGQSSVLSARRDSSSHEETGASHTLYGHGVCKWPGCESICEDFGQFLKHLNNEHALDDRSTAQCRVQMQVVQQLEIQLSKERERLQAMMTHLHMRPSEPKPSPKPLNLVSSVTMSKNMLETSPQSLPQTPTTPTAPVTPITQGPSVITPASVPNVGAIRRRHSDKYNIPMSSEIAPNYEFYKNADVRPPFTYATLIRQAIMESSDRQLTLNEIYSWFTRTFAYFRRNAATWKNAVRHNLSLHKCFVRVENVKGAVWTVDEVEYQKRRSQKITGSPTLVKNIPTSLGYGAALNASLQAALAESSLPLLSNPGLINNASSGLLQAVHEDLNGSLDHIDSNGNSSPGCSPQPHIHSIHVKEEPVIAEDEDCPMSLVTTANHSPELEDDREIEEEPLSEDLE", "length": 757, "header": "tr|A0A994J6W1-1|A0A994J6W1_HUMAN Computationally mapped isoform of Forkhead box P2 OS=Homo sapiens OX=9606 GN=FOXP2 PE=1 SV=1 CANONICAL=O15409-1" }, "locus": { "chromosome": "7", "start_pos": 114689923, "end_pos": 114426512, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000703616.1", "url": "https://www.ensembl.org/id/ENST00000703616.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000515400.1", "url": "https://www.ensembl.org/id/ENSP00000515400.1" } ] } }, { "isoform_ac": "A8MTU2-1", "url": "", "sequence": { "sequence": "MMQESATETISNSSMNQNGMSTLSSQLDAGSRDGRSSGDTSSEVSTVELLHLQQQQQQQQQQQLAAQQLVFQQQLLQMQQLQQQQHLLSLQRQGLISIPPGQAALPVQSLPQAGLSPAEIQQLWKEVTGVHSMEDNGIKHGGLDLTTNNSSSTTSSNTSKASPPITHHSIV", "length": 171, "header": "tr|A8MTU2-1|A8MTU2_HUMAN Computationally mapped isoform of Forkhead box P2 OS=Homo sapiens OX=9606 GN=FOXP2 PE=1 SV=3 CANONICAL=O15409-1" }, "locus": { "chromosome": "7", "start_pos": 114642585, "end_pos": 114426512, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000393495.7", "url": "https://www.ensembl.org/id/ENST00000393495.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000377133.3", "url": "https://www.ensembl.org/id/ENSP00000377133.3" } ] } }, { "isoform_ac": "A8MUV4-1", "url": "", "sequence": { "sequence": "MMQESATETISNSSMNQNGMSTLSSQLDAGSRDGRSSGDTSSEVSTVELLHLQQQQALQAARQLLLQQQTSGLKSPKSSDKQRPLQVPVSVAMMTPQVITPQQMQQILQQQVLSPQQLQALLQQQQAVMLQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQHPGKQAKEQQQQQQQQQLAAQQLVFQQQLLQMQQLQQQQHLLSLQRQGLISIPPGQAALPVQSLPQAGLSPAEIQQLWKEVTGVHSMEDNGIKHGGLDLTTNNSSSTTSSNTSKASPPITHHSIVNGQSSVLSARRDSSSHEETGASHTLYGHGVCKWPGCESICEDFGQFLKHLNNEHALDDRSTAQCRVQMQVVQQLEIQLSKERERLQAMMTHLHMRPSEPKPSPKPLNLVSSVTMSKNMLETSPQSLPQTPTTPTAPVTPITQGPSVITPASVPNVGAIRRRHSDKYNIPMSSEIAPNYEFYKNADVRPPFTYATLIRQAIMESSDRQLTLNEIYSWFTRTFAYFRRNAATWKNAVRHNLSLHKCFVRVENVKGAVWTVDEVEYQKRRSQKITGSPTLVKNIPTSLGYGAALNASLQAALAESSLPLLSNPGLINNASSGLLQAVHEDLNGSLDHIDSNGNSSPGCSPQPHIHSIHVKEEPVIAEDEDCPMSLVTTANHSPELEDDREIEEEPLSEDLE", "length": 694, "header": "tr|A8MUV4-1|A8MUV4_HUMAN Computationally mapped isoform of Forkhead box P2 OS=Homo sapiens OX=9606 GN=FOXP2 PE=1 SV=2 CANONICAL=O15409-1" }, "locus": { "chromosome": "7", "start_pos": 114689923, "end_pos": 114426512, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000393498.6", "url": "https://www.ensembl.org/id/ENST00000393498.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000377135.2", "url": "https://www.ensembl.org/id/ENSP00000377135.2" } ] } }, { "isoform_ac": "C9JQP8-1", "url": "", "sequence": { "sequence": "MMQESATETISNSSMNQNGMSTLSSQLDAGSRDGRSSGDTSSEVSTVELLHLQQQQALQAARQLLLQQQTSGLKSPKSSDKQRPLQVPVSVAMMTPQVITPQQMQQILQQQVLSPQQLQALLQQQQAVMLQQSKWFIQQQLQEFYKKQQEQLHLQLLQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQHPGKQAKE", "length": 205, "header": "tr|C9JQP8-1|C9JQP8_HUMAN Computationally mapped isoform of Forkhead box P2 OS=Homo sapiens OX=9606 GN=FOXP2 PE=1 SV=2 CANONICAL=O15409-1" }, "locus": { "chromosome": "7", "start_pos": 114630005, "end_pos": 114426512, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000452963.6", "url": "https://www.ensembl.org/id/ENST00000452963.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000409826.2", "url": "https://www.ensembl.org/id/ENSP00000409826.2" } ] } }, { "isoform_ac": "F8WDL6-1", "url": "", "sequence": { "sequence": "MMQESATETISNSSMNQNGMSTLSSQLDAGSRDGRSSGDTSSEVSTVELLHLQQQQAGVQWCNHNSLQPGTPGLKQSSDLSL", "length": 82, "header": "tr|F8WDL6-1|FOXP2_HUMAN Computationally mapped isoform of Forkhead box protein P2 OS=Homo sapiens OX=9606 GN=FOXP2 PE=1 SV=1 CANONICAL=O15409-1" }, "locus": { "chromosome": "7", "start_pos": 114463151, "end_pos": 114426512, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000440349.5", "url": "https://www.ensembl.org/id/ENST00000440349.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000395552.1", "url": "https://www.ensembl.org/id/ENSP00000395552.1" } ] } }, { "isoform_ac": "O15409-1", "url": "", "sequence": { "sequence": "MMQESATETISNSSMNQNGMSTLSSQLDAGSRDGRSSGDTSSEVSTVELLHLQQQQALQAARQLLLQQQTSGLKSPKSSDKQRPLQVPVSVAMMTPQVITPQQMQQILQQQVLSPQQLQALLQQQQAVMLQQQQLQEFYKKQQEQLHLQLLQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQHPGKQAKEQQQQQQQQQQLAAQQLVFQQQLLQMQQLQQQQHLLSLQRQGLISIPPGQAALPVQSLPQAGLSPAEIQQLWKEVTGVHSMEDNGIKHGGLDLTTNNSSSTTSSNTSKASPPITHHSIVNGQSSVLSARRDSSSHEETGASHTLYGHGVCKWPGCESICEDFGQFLKHLNNEHALDDRSTAQCRVQMQVVQQLEIQLSKERERLQAMMTHLHMRPSEPKPSPKPLNLVSSVTMSKNMLETSPQSLPQTPTTPTAPVTPITQGPSVITPASVPNVGAIRRRHSDKYNIPMSSEIAPNYEFYKNADVRPPFTYATLIRQAIMESSDRQLTLNEIYSWFTRTFAYFRRNAATWKNAVRHNLSLHKCFVRVENVKGAVWTVDEVEYQKRRSQKITGSPTLVKNIPTSLGYGAALNASLQAALAESSLPLLSNPGLINNASSGLLQAVHEDLNGSLDHIDSNGNSSPGCSPQPHIHSIHVKEEPVIAEDEDCPMSLVTTANHSPELEDDREIEEEPLSEDLE", "length": 715, "header": "sp|O15409-1|FOXP2_HUMAN Isoform 1 of Forkhead box protein P2 OS=Homo sapiens OX=9606 GN=FOXP2 PE=1 SV=2 CANONICAL=O15409-1" }, "locus": { "chromosome": "7", "start_pos": 114689923, "end_pos": 114426512, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000703614.1", "url": "https://www.ensembl.org/id/ENST00000703614.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000515398.1", "url": "https://www.ensembl.org/id/ENSP00000515398.1" } ] } }, { "isoform_ac": "O15409-2", "url": "", "sequence": { "sequence": "MMTPQVITPQQMQQILQQQVLSPQQLQALLQQQQAVMLQQQQLQEFYKKQQEQLHLQLLQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQHPGKQAKEQQQQQQQQQQLAAQQLVFQQQLLQMQQLQQQQHLLSLQRQGLISIPPGQAALPVQSLPQAGLSPAEIQQLWKEVTGVHSMEDNGIKHGGLDLTTNNSSSTTSSNTSKASPPITHHSIVNGQSSVLSARRDSSSHEETGASHTLYGHGVCKWPGCESICEDFGQFLKHLNNEHALDDRSTAQCRVQMQVVQQLEIQLSKERERLQAMMTHLHMRPSEPKPSPKPLNLVSSVTMSKNMLETSPQSLPQTPTTPTAPVTPITQGPSVITPASVPNVGAIRRRHSDKYNIPMSSEIAPNYEFYKNADVRPPFTYATLIRQAIMESSDRQLTLNEIYSWFTRTFAYFRRNAATWKNAVRHNLSLHKCFVRVENVKGAVWTVDEVEYQKRRSQKITGSPTLVKNIPTSLGYGAALNASLQAALAESSLPLLSNPGLINNASSGLLQAVHEDLNGSLDHIDSNGNSSPGCSPQPHIHSIHVKEEPVIAEDEDCPMSLVTTANHSPELEDDREIEEEPLSEDLE", "length": 623, "header": "sp|O15409-2|FOXP2_HUMAN Isoform 2 of Forkhead box protein P2 OS=Homo sapiens OX=9606 GN=FOXP2 PE=1 SV=2 CANONICAL=O15409-1" }, "locus": {} }, { "isoform_ac": "O15409-4", "url": "", "sequence": { "sequence": "MMQESATETISNSSMNQNGMSTLSSQLDAGSRDGRSSGDTSSEVSTVELLHLQQQQALQAARQLLLQQQTSGLKSPKSSDKQRPLQELLPETKLCICGHSSGDGHPHNTFAVPVSVAMMTPQVITPQQMQQILQQQVLSPQQLQALLQQQQAVMLQQQQLQEFYKKQQEQLHLQLLQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQHPGKQAKEQQQQQQQQQQLAAQQLVFQQQLLQMQQLQQQQHLLSLQRQGLISIPPGQAALPVQSLPQAGLSPAEIQQLWKEVTGVHSMEDNGIKHGGLDLTTNNSSSTTSSNTSKASPPITHHSIVNGQSSVLSARRDSSSHEETGASHTLYGHGVCKWPGCESICEDFGQFLKHLNNEHALDDRSTAQCRVQMQVVQQLEIQLSKERERLQAMMTHLHMRPSEPKPSPKPLNLVSSVTMSKNMLETSPQSLPQTPTTPTAPVTPITQGPSVITPASVPNVGAIRRRHSDKYNIPMSSEIAPNYEFYKNADVRPPFTYATLIRQAIMESSDRQLTLNEIYSWFTRTFAYFRRNAATWKNAVRHNLSLHKCFVRVENVKGAVWTVDEVEYQKRRSQKITGSPTLVKNIPTSLGYGAALNASLQAALAESSLPLLSNPGLINNASSGLLQAVHEDLNGSLDHIDSNGNSSPGCSPQPHIHSIHVKEEPVIAEDEDCPMSLVTTANHSPELEDDREIEEEPLSEDLE", "length": 740, "header": "sp|O15409-4|FOXP2_HUMAN Isoform 4 of Forkhead box protein P2 OS=Homo sapiens OX=9606 GN=FOXP2 PE=1 SV=2 CANONICAL=O15409-1" }, "locus": { "chromosome": "7", "start_pos": 114689923, "end_pos": 114426512, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000408937.7", "url": "https://www.ensembl.org/id/ENST00000408937.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000386200.3", "url": "https://www.ensembl.org/id/ENSP00000386200.3" } ] } }, { "isoform_ac": "O15409-5", "url": "", "sequence": { "sequence": "MMQESATETISNSSMNQNGMSTLSSQLDAGSRDGRSSGDTSSEVSTVELLHLQQQQALQAARQLLLQQQTSGLKSPKSSDKQRPLQELLPETKLCICGHSSGDGHPHNTFAVPVSVAMMTPQVITPQQMQQILQQQVLSPQQLQALLQQQQAVMLQQVMWVTCFGVLA", "length": 168, "header": "sp|O15409-5|FOXP2_HUMAN Isoform 5 of Forkhead box protein P2 OS=Homo sapiens OX=9606 GN=FOXP2 PE=1 SV=2 CANONICAL=O15409-1" }, "locus": {} }, { "isoform_ac": "O15409-6", "url": "", "sequence": { "sequence": "MMQESATETISNSSMNQNGMSTLSSQLDAGSRDGRSSGDTSSEVSTVELLHLQQQQALQAARQLLLQQQTSGLKSPKSSDKQRPLQVPVSVAMMTPQVITPQQMQQILQQQVLSPQQLQALLQQQQAVMLQQQQLQEFYKKQQEQLHLQLLQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQHPGKQAKEQQQQQQQQQQLAAQQLVFQQQLLQMQQLQQQQHLLSLQRQGLISIPPGQAALPVQSLPQAGLSPAEIQQLWKEVTGVHSMEDNGIKHGGLDLTTNNSSSTTSSNTSKASPPITHHSIVNGQSSVLSARRDSSSHEETGASHTLYGHGVCKWPGCESICEDFGQFLKHLNNEHALDDRSTAQCRVQMQVVQQLEIQLSKERERLQAMMTHLHMRPSEPKPSPKPVSAYCFINSK", "length": 432, "header": "sp|O15409-6|FOXP2_HUMAN Isoform 6 of Forkhead box protein P2 OS=Homo sapiens OX=9606 GN=FOXP2 PE=1 SV=2 CANONICAL=O15409-1" }, "locus": { "chromosome": "7", "start_pos": 114654039, "end_pos": 114426512, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000360232.8", "url": "https://www.ensembl.org/id/ENST00000360232.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000353367.4", "url": "https://www.ensembl.org/id/ENSP00000353367.4" } ] } }, { "isoform_ac": "O15409-7", "url": "", "sequence": { "sequence": "MMQESATETISNSSMNQNGMSTLSSQLDAGSRDGRSSGDTSSEVSTVELLHLQQQQALQAARQLLLQQQTSGLKSPKSSDKQRPLQVPVSVAMMTPQVITPQQMQQILQQQVLSPQQLQALLQQQQAVMLQQQQLQEFYKKQQEQLHLQLLQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQHPGKQAKEQQQQQQQQQQLAAQQLVFQQQLLQMQQLQQQQHLLSLQRQGLISIPPGQAALPVQSLPQAGLSPAEIQQLWKEVTGVHSMEDNGIKHGGLDLTTNNSSSTTSSNTSKASPPITHHSIVNGQSSVLSARRDSSSHEETGASHTLYGHGVCKWPGCESICEDFGQFLK", "length": 365, "header": "sp|O15409-7|FOXP2_HUMAN Isoform 7 of Forkhead box protein P2 OS=Homo sapiens OX=9606 GN=FOXP2 PE=1 SV=2 CANONICAL=O15409-1" }, "locus": { "chromosome": "7", "start_pos": 114644790, "end_pos": 114426512, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000378237.7", "url": "https://www.ensembl.org/id/ENST00000378237.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000367482.3", "url": "https://www.ensembl.org/id/ENSP00000367482.3" } ] } }, { "isoform_ac": "O15409-8", "url": "", "sequence": { "sequence": "MMQESATETISNSSMNQNGMSTLSSQLDAGSRDGRSSGDTSSEVSTVELLHLQQQQALQAARQLLLQQQTSGLKSPKSSDKQRPLQP", "length": 87, "header": "sp|O15409-8|FOXP2_HUMAN Isoform 8 of Forkhead box protein P2 OS=Homo sapiens OX=9606 GN=FOXP2 PE=1 SV=2 CANONICAL=O15409-1" }, "locus": { "chromosome": "7", "start_pos": 114538328, "end_pos": 114426512, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000393489.8", "url": "https://www.ensembl.org/id/ENST00000393489.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000377129.4", "url": "https://www.ensembl.org/id/ENSP00000377129.4" } ] } }, { "isoform_ac": "O15409-9", "url": "", "sequence": { "sequence": "MMQESATETISNSSMNQNGMSTLSSQLDAGSRDGRSSGDTSSEVSTVELLHLQQQQALQAARQLLLQQQTSGLKSPKSSDKQRPLQVPVSVAMMTPQVITPQQMQQILQQQVLSPQQLQALLQQQQAVMLQQDFLDSGLENFRAALEKNQQLQEFYKKQQEQLHLQLLQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQHPGKQAKEQQQQQQQQQQLAAQQLVFQQQLLQMQQLQQQQHLLSLQRQGLISIPPGQAALPVQSLPQAGLSPAEIQQLWKEVTGVHSMEDNGIKHGGLDLTTNNSSSTTSSNTSKASPPITHHSIVNGQSSVLSARRDSSSHEETGASHTLYGHGVCKWPGCESICEDFGQFLKHLNNEHALDDRSTAQCRVQMQVVQQLEIQLSKERERLQAMMTHLHMRPSEPKPSPKPLNLVSSVTMSKNMLETSPQSLPQTPTTPTAPVTPITQGPSVITPASVPNVGAIRRRHSDKYNIPMSSEIAPNYEFYKNADVRPPFTYATLIRQAIMESSDRQLTLNEIYSWFTRTFAYFRRNAATWKNAVRHNLSLHKCFVRVENVKGAVWTVDEVEYQKRRSQKITGSPTLVKNIPTSLGYGAALNASLQAALAESSLPLLSNPGLINNASSGLLQAVHEDLNGSLDHIDSNGNSSPGCSPQPHIHSIHVKEEPVIAEDEDCPMSLVTTANHSPELEDDREIEEEPLSEDLE", "length": 732, "header": "sp|O15409-9|FOXP2_HUMAN Isoform 9 of Forkhead box protein P2 OS=Homo sapiens OX=9606 GN=FOXP2 PE=1 SV=2 CANONICAL=O15409-1" }, "locus": { "chromosome": "7", "start_pos": 114689923, "end_pos": 114426512, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000703613.1", "url": "https://www.ensembl.org/id/ENST00000703613.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000515397.1", "url": "https://www.ensembl.org/id/ENSP00000515397.1" } ] } }, { "isoform_ac": "Q0PRL4-1", "url": "", "sequence": { "sequence": "MMTPQVITPQQMQQILQQQVLSPQQLQALLQQQQAVMLQQQQLQEFYKKQQEQLHLQLLQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQHPGKQAKEQQQQQQQQQQLAAQQLVFQQQLLQMQQLQQQQHLLSLQRQGLISIPPGQAALPVQSLPQAGLSPAEIQQLWKEVTGVHSMEDNGIKHGGLDLTTNNSSSTTSSNTSKASPPITHHSIVNGQSSVLSARRDSSSHEETGASHTLYGHGVCKWPGCESICEDFGQFLKHLNNEHALDDRSTAQCRVQMQVVQQLEIQLSKERERLQAMMTHLHMRPSEPKPSPKPAIMESSDRQLTLNEIYSWFTRTFAYFRRNAATWKNAVRHNLSLHKCFVRVENVKGAVWTVDEVEYQKRRSQKITGSPTLVKNIPTSLGYGAALNASLQAALAESSLPLLSNPGLINNASSGLLQAVHEDLNGSLDHIDSNGNSSPGCSPQPHIHSIHVKEEPVIAEDEDCPMSLVTTANHSPELEDDREIEEEPLSEDLE", "length": 530, "header": "tr|Q0PRL4-1|Q0PRL4_HUMAN Computationally mapped isoform of Forkhead box P2 OS=Homo sapiens OX=9606 GN=FOXP2 PE=1 SV=1 CANONICAL=O15409-1" }, "locus": { "chromosome": "7", "start_pos": 114689923, "end_pos": 114628558, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000703617.1", "url": "https://www.ensembl.org/id/ENST00000703617.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000515401.1", "url": "https://www.ensembl.org/id/ENSP00000515401.1" } ] } }, { "isoform_ac": "Q75MZ5-1", "url": "", "sequence": { "sequence": "MMQESATETISNSSMNQNGMSTLSSQLDAGSRDGRSSGDTSSEVSTVELLHLQQQQEDVVSYTQVIC", "length": 67, "header": "tr|Q75MZ5-1|FOXP2_HUMAN Computationally mapped isoform of Forkhead box protein P2 OS=Homo sapiens OX=9606 GN=FOXP2 PE=1 SV=1 CANONICAL=O15409-1" }, "locus": { "chromosome": "7", "start_pos": 114498915, "end_pos": 114426512, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000462331.5", "url": "https://www.ensembl.org/id/ENST00000462331.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000418100.1", "url": "https://www.ensembl.org/id/ENSP00000418100.1" } ] } }, { "isoform_ac": "Q8N6B5-1", "url": "", "sequence": { "sequence": "MQESATETISNSSMNQNGMSTLSSQLDAGSRDGRSSGDTSSEVSTVELLHLQQQQALQAARQLLLQQQTSGLKSPKSSDKQRPLQELLPETKLCICGHSSGDGHPHNTFAVPVSVAMMTPQVITPQQMQQILQQQVLSPQQLQALLQQQQAVMLQQQQLQEFYKKQQEQLHLQLLQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQHPGKQAKEQQQQQQQQQQLAAQQLVFQQQLLQMQQLQQQQHLLSLQRQGLISIPPGQAALPVQSLPQAGLSPAEIQQLWKEVTGVHSMEDNGIKHGGLDLTTNNSSSTTSSNTSKASPPITHHSIVNGQSSVLSARRDSSSHEETGASHTLYGHGVCKWPGCESICEDFGQFLKHLNNEHALDDRSTAQCRVQMQVVQQLEIQLSKERERLQAMMTHLHMRPSEPKPSPKPVSAYCFINSK", "length": 456, "header": "tr|Q8N6B5-1|FOXP2_HUMAN Computationally mapped isoform of Forkhead box protein P2 OS=Homo sapiens OX=9606 GN=FOXP2 PE=1 SV=1 CANONICAL=O15409-1" }, "locus": { "chromosome": "7", "start_pos": 114654039, "end_pos": 114426515, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000390668.3", "url": "https://www.ensembl.org/id/ENST00000390668.3" }, { "database": "Ensembl Peptide", "id": "ENSP00000375084.3", "url": "https://www.ensembl.org/id/ENSP00000375084.3" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 305, "start_aa": "Ser", "end_pos": 305, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser305", "evidence": [ { "id": "O15409", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O15409" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" }, { "id": "O15409", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O15409" }, { "id": "30620550", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30620550" } ] } ], "phosphorylation": [ { "start_pos": 557, "end_pos": 557, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O15409", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15409" }, { "database": "PubMed", "id": "29845391", "url": "https://glygen.org/publication/PubMed/29845391" } ], "site_lbl": "Ser557" }, { "start_pos": 591, "end_pos": 591, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O15409", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15409" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser591" }, { "start_pos": 593, "end_pos": 593, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O15409", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15409" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Thr593" }, { "start_pos": 75, "end_pos": 75, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O15409", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15409" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser75" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "A forkhead-domain gene is mutated in a severe speech and language disorder.", "journal": "Nature", "date": "2001", "authors": "Lai CS, Fisher SE, Hurst JA, Vargha-Khadem F, Monaco AP", "evidence": [ { "database": "UniProtKB", "id": "O15409", "url": "https://www.uniprot.org/uniprot/O15409" }, { "database": "RefSeq", "id": "NP_001166237", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001166237" } ], "reference": [ { "type": "PubMed", "id": "11586359", "url": "https://glygen.org/publication/PubMed/11586359" } ] }, { "title": "FOXP2: novel exons, splice variants, and CAG repeat length stability.", "journal": "Hum. Genet.", "date": "2002", "authors": "Bruce HA, Margolis RL", "evidence": [ { "database": "UniProtKB", "id": "Q8N6B5", "url": "https://www.uniprot.org/uniprot/Q8N6B5" } ], "reference": [ { "type": "PubMed", "id": "12189486", "url": "https://glygen.org/publication/PubMed/12189486" } ] }, { "title": "Molecular evolution of FOXP2, a gene involved in speech and language.", "journal": "Nature", "date": "2002", "authors": "Enard W, Przeworski M, Fisher SE, Lai CS, Wiebe V, Kitano T, Monaco AP, Paabo S", "evidence": [ { "database": "UniProtKB", "id": "O15409", "url": "https://www.uniprot.org/uniprot/O15409" }, { "database": "RefSeq", "id": "NP_001166237", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001166237" } ], "reference": [ { "type": "PubMed", "id": "12192408", "url": "https://glygen.org/publication/PubMed/12192408" } ] }, { "title": "Mutation screening of FOXP2 in individuals diagnosed with autistic disorder.", "journal": "American journal of medical genetics. Part A", "date": "2003", "authors": "Gauthier J, Joober R, Mottron L, Laurent S, Fuchs M, De Kimpe V, Rouleau GA", "evidence": [ { "database": "RefSeq", "id": "NP_001166237", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001166237" } ], "reference": [ { "type": "PubMed", "id": "12655497", "url": "https://glygen.org/publication/PubMed/12655497" } ] }, { "title": "Parallel FoxP1 and FoxP2 expression in songbird and human brain predicts functional interaction.", "journal": "J. Neurosci.", "date": "2004", "authors": "Teramitsu Ikuko, Kudo Lili C, London Sarah E, Geschwind Daniel H, White Stephanie A", "evidence": [ { "database": "UniProtKB", "id": "O15409", "url": "https://www.uniprot.org/uniprot/O15409" } ], "reference": [ { "type": "PubMed", "id": "15056695", "url": "https://glygen.org/publication/PubMed/15056695" } ] }, { "title": "Structure of the forkhead domain of FOXP2 bound to DNA.", "journal": "Structure (London, England : 1993)", "date": "2006", "authors": "Stroud JC, Wu Y, Bates DL, Han A, Nowick K, Paabo S, Tong H, Chen L", "evidence": [ { "database": "RefSeq", "id": "NP_001166237", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001166237" } ], "reference": [ { "type": "PubMed", "id": "16407075", "url": "https://glygen.org/publication/PubMed/16407075" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "iPTMnet", "id": "O15409-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15409-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "title": "De novo TBR1 mutations in sporadic autism disrupt protein functions.", "journal": "Nature communications", "date": "2014", "authors": "Deriziotis P, O'Roak BJ, Graham SA, Estruch SB, Dimitropoulou D, Bernier RA, Gerdts J, Shendure J, Eichler EE, Fisher SE", "evidence": [ { "database": "UniProtKB", "id": "O15409", "url": "https://www.uniprot.org/uniprot/O15409" } ], "reference": [ { "type": "PubMed", "id": "25232744", "url": "https://glygen.org/publication/PubMed/25232744" } ] }, { "title": "Identification and functional characterization of de novo FOXP1 variants provides novel insights into the etiology of neurodevelopmental disorder.", "journal": "Hum. Mol. Genet.", "date": "2016", "authors": "Sollis E, Graham SA, Vino A, Froehlich H, Vreeburg M, Dimitropoulou D, Gilissen C, Pfundt R, Rappold GA, Brunner HG, Deriziotis P, Fisher SE", "evidence": [ { "database": "UniProtKB", "id": "O15409", "url": "https://www.uniprot.org/uniprot/O15409" } ], "reference": [ { "type": "PubMed", "id": "26647308", "url": "https://glygen.org/publication/PubMed/26647308" } ] }, { "title": "A Phosphomimetic Study Implicates Ser557 in Regulation of FOXP2 DNA Binding.", "journal": "The protein journal", "date": "2018", "authors": "Blane A, Dirr HW, Fanucchi S", "evidence": [ { "database": "iPTMnet", "id": "O15409", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15409" } ], "reference": [ { "type": "PubMed", "id": "29845391", "url": "https://glygen.org/publication/PubMed/29845391" } ] }, { "title": "Functional characterization of TBR1 variants in neurodevelopmental disorder.", "journal": "Sci. Rep.", "date": "2018", "authors": "den Hoed J, Sollis E, Venselaar H, Estruch SB, Deriziotis P, Fisher SE", "evidence": [ { "database": "UniProtKB", "id": "O15409", "url": "https://www.uniprot.org/uniprot/O15409" } ], "reference": [ { "type": "PubMed", "id": "30250039", "url": "https://glygen.org/publication/PubMed/30250039" } ] }, { "title": "An Isotope-Coded Photocleavable Probe for Quantitative Profiling of Protein O-GlcNAcylation.", "journal": "ACS chemical biology", "date": "2019", "authors": "Li J, Li Z, Duan X, Qin K, Dang L, Sun S, Cai L, Hsieh-Wilson LC, Wu L, Yi W", "evidence": [ { "database": "O-GlcNAc Atlas", "id": "O15409", "url": "https://oglcnac.org/atlas/detail/O15409" } ], "reference": [ { "type": "PubMed", "id": "30620550", "url": "https://glygen.org/publication/PubMed/30620550" } ] }, { "title": "Mutations of the transcriptional corepressor ZMYM2 cause syndromic urinary tract malformations.", "journal": "Am. J. Hum. Genet.", "date": "2020", "authors": "Connaughton DM, Dai R, Owen DJ, Marquez J, Mann N, Graham-Paquin AL, Nakayama M, Coyaud E, Laurent EMN, St-Germain JR, Blok LS, Vino A, Klambt V, Deutsch K, Wu CW, Kolvenbach CM, Kause F, Ottlewski I, Schneider R, Kitzler TM, Majmundar AJ, Buerger F, Onuchic-Whitford AC, Youying M, Kolb A, Salmanullah D, Chen E, van der Ven AT, Rao J, Ityel H, Seltzsam S, Rieke JM, Chen J, Vivante A, Hwang DY, Kohl S, Dworschak GC, Hermle T, Alders M, Bartolomaeus T, Bauer SB, Baum MA, Brilstra EH, Challman TD, Zyskind J, Costin CE, Dipple KM, Duijkers FA, Ferguson M, Fitzpatrick DR, Fick R, Glass IA, Hulick PJ, Kline AD, Krey I, Kumar S, Lu W, Marco EJ, Wentzensen IM, Mefford HC, Platzer K, Povolotskaya IS, Savatt JM, Shcherbakova NV, Senguttuvan P, Squire AE, Stein DR, Thiffault I, Voinova VY, Somers MJG, Ferguson MA, Traum AZ, Daouk GH, Daga A, Rodig NM, Terhal PA, van Binsbergen E, Eid LA, Tasic V, Rasouly HM, Lim TY, Ahram DF, Gharavi AG, Reutter HM, Rehm HL, MacArthur DG, Lek M, Laricchia KM, Lifton RP, Xu H, Mane SM, Sanna-Cherchi S, Sharrocks AD, Raught B, Fisher SE, Bouchard M, Khokha MK, Shril S, Hildebrandt F", "evidence": [ { "database": "UniProtKB", "id": "O15409", "url": "https://www.uniprot.org/uniprot/O15409" } ], "reference": [ { "type": "PubMed", "id": "32891193", "url": "https://glygen.org/publication/PubMed/32891193" } ] }, { "title": "An Optimized Isotopic Photocleavable Tagging Strategy for Site-Specific and Quantitative Profiling of Protein O-GlcNAcylation in Colorectal Cancer Metastasis.", "journal": "ACS chemical biology", "date": "2022", "authors": "Liu J, Hao Y, Wang C, Jin Y, Yang Y, Gu J, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "O15409", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O15409" } ], "reference": [ { "type": "PubMed", "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053" } ] }, { "title": "Human-specific changes in two functional enhancers of FOXP2.", "journal": "Cellular and molecular biology (Noisy-le-Grand, France)", "date": "2022-11-30", "authors": "Ben\u00edtez-Burraco Antonio, Torres-Ruiz Ra\u00fal, Gelabert Pere, Lalueza-Fox Carles, Rodr\u00edguez-Perales Sandra, Garc\u00eda-Bellido Paloma", "evidence": [ { "database": "RefSeq", "id": "NP_001166237", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001166237" } ], "reference": [ { "type": "PubMed", "id": "37114314", "url": "https://glygen.org/publication/PubMed/37114314" } ] }, { "title": "FOXP2 suppresses the proliferation, invasion, and aerobic glycolysis of hepatocellular carcinoma cells by regulating the KDM5A/FBP1 axis.", "journal": "Environmental toxicology", "date": "2024-01", "authors": "Yan Lijing, Sun Huanhuan, Chen Yuling, Yu Xiaohui, Zhang Jingru, Li Peijie", "evidence": [ { "database": "RefSeq", "id": "NP_001166237", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001166237" } ], "reference": [ { "type": "PubMed", "id": "37713600", "url": "https://glygen.org/publication/PubMed/37713600" } ] }, { "title": "cDNAs with long CAG trinucleotide repeats from human brain.", "journal": "Hum. Genet.", "date": "1997", "authors": "Margolis RL, Abraham MR, Gatchell SB, Li SH, Kidwai AS, Breschel TS, Stine OC, Callahan C, McInnis MG, Ross CA", "evidence": [ { "database": "UniProtKB", "id": "O15409", "url": "https://www.uniprot.org/uniprot/O15409" } ], "reference": [ { "type": "PubMed", "id": "9225980", "url": "https://glygen.org/publication/PubMed/9225980" } ] } ], "pathway": [ { "id": "hsa:93986", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:93986", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "P0CF24-1", "protein_name": "Forkhead box protein P2", "gene_name": "Foxp2", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MMQESATETISNSSMNQNGMSTLSSQLDAGSRDGRSSGDTSSEVSTVELLHLQQQQALQAARQLLLQQQTSGLKSPKSSDKQRPLQVPVSVAMMTPQVITPQQMQQILQQQVLSPQQLQALLQQQQAVMLQQQQLQEFYKKQQEQLHLQLLQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQHPGKQAKEQQQQQQQQQLAAQQLVFQQQLLQMQQLQQQQHLLSLQCQGLISIPPGQAALPVQSLPQAGLSPAEIQQLWKEVTGVHSQEDNGIKHGGLDLTTNNSSSTTSSTTSKASPPITHHSIVNGQSSVLNARRDSSSHEETGASHTLYGHGVCKWPGCESICEDFGQFLKHLNNEHALDDRSTAQCRVQMQVVQQLEIQLSKERERLQAMMTHLHMRPSEPKPSPKPLNLVSSVTMSKNMLETSPQSLPQTPTTPTAPVTPITQGPSVITPASVPNVGAIRRRHSDKYNIPMSSEIAPNYEFYKNADVRPPFTYATLIRQAIMESSDRQLTLNEIYSWFTRTFAYFRRNAATWKNAVRHNLSLHKCFVRVENVKGAVWTVDEVEYQKRRSQKITGSPTLVKNIPTSLGYGAALNASLQAALAESSLPLLSNPGLINNASSGLLQAVHEDLNGSLDHIDSNGNSSPGCSPQPHIHSIHVKEEPVIAEDEDCPMSLVTTANHSPELEDDREIEEEPLSEDLE", "length": 710 }, "evidence": [ { "id": "45919949", "url": "http://www.informatics.jax.org/homology/45919949", "database": "MGI" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "P58463-1", "protein_name": "Forkhead box protein P2", "gene_name": "Foxp2", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MMQESATETISNSSMNQNGMSTLSSQLDAGSRDGRSSGDTSSEVSTVELLHLQQQQALQAARQLLLQQQTSGLKSPKSSEKQRPLQVPVSVAMMTPQVITPQQMQQILQQQVLSPQQLQALLQQQQAVMLQQQQLQEFYKKQQEQLHLQLLQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQHPGKQAKEQQQQQQQQQLAAQQLVFQQQLLQMQQLQQQQHLLSLQRQGLISIPPGQAALPVQSLPQAGLSPAEIQQLWKEVTGVHSMEDNGIKHGGLDLTTNNSSSTTSSTTSKASPPITHHSIVNGQSSVLNARRDSSSHEETGASHTLYGHGVCKWPGCESICEDFGQFLKHLNNEHALDDRSTAQCRVQMQVVQQLEIQLSKERERLQAMMTHLHMRPSEPKPSPKPLNLVSSVTMSKNMLETSPQSLPQTPTTPTAPVTPITQGPSVITPASVPNVGAIRRRHSDKYNIPMSSEIAPNYEFYKNADVRPPFTYATLIRQAIMESSDRQLTLNEIYSWFTRTFAYFRRNAATWKNAVRHNLSLHKCFVRVENVKGAVWTVDEVEYQKRRSQKITGSPTLVKNIPTSLGYGAALNASLQAALAESSLPLLSNPGLINNASSGLLQAVHEDLNGSLDHIDSNGNSSPGCSPQPHIHSIHVKEEPVIAEDEDCPMSLVTTANHSPELEDDREIEEEPLSEDLE", "length": 714 }, "evidence": [ { "id": "45919949", "url": "http://www.informatics.jax.org/homology/45919949", "database": "MGI" }, { "id": "O15409", "url": "https://omabrowser.org/oma/group/O15409/", "database": "OMA" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 9, "go_terms": [ { "name": "DNA-binding transcription factor activity", "id": "GO:0003700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003700", "evidence": [ { "database": "UniProtKB", "id": "O15409", "url": "https://www.uniprot.org/uniprot/O15409" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "O15409", "url": "https://www.uniprot.org/uniprot/O15409" } ], "pmid": "" }, { "name": "sequence-specific DNA binding", "id": "GO:0043565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043565", "evidence": [ { "database": "UniProtKB", "id": "O15409", "url": "https://www.uniprot.org/uniprot/O15409" } ], "pmid": "" }, { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": 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