{ "uniprot_canonical_ac": "O95619-1", "uniprot_ac": "O95619", "uniprot_id": "YETS4_HUMAN", "mass": { "chemical_mass": 26499.0, "monoisotopic_mass": 26499.0 }, "refseq": { "ac": "NP_001287879", "name": "YEATS domain-containing protein 4 isoform 2", "summary": "The protein encoded by this gene is found in the nucleoli. It has high sequence homology to human MLLT1, and yeast and human MLLT3 proteins. Both MLLT1 and MLLT3 proteins belong to a class of transcription factors, indicating that the encoded protein might also represent a transcription factor. This protein is thought to be required for RNA transcription. This gene has been shown to be amplified in tumors. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2014].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287879" }, "gene_names": [ { "name": "YEATS4", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O95619", "id": "O95619" }, { "name": "4930573H17Rik; B230215M10Rik; GAS41; NUBI-1; YAF9", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287879", "id": "NP_001287879" }, { "name": "GAS41", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O95619", "id": "O95619" }, { "name": "YEATS4", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287879", "id": "NP_001287879" } ], "protein_names": [ { "name": "YEATS domain-containing protein 4", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O95619" }, { "name": "Gas41", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95619" }, { "name": "Glioma-amplified sequence 41", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95619" }, { "name": "NuBI-1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95619" }, { "name": "NuBI1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95619" }, { "name": "NuMA binding protein 1; nuBI1; glioma-amplified sequence 41", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287879", "id": "NP_001287879" }, { "name": "NuMA-binding protein 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95619" }, { "name": "YEATS domain-containing protein 4 isoform 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287879", "id": "NP_001287879" } ], "function": [ { "annotation": "Cellular and structural studies revealed that GAS41 is a histone lysine succinylation reader owing to a protonated histidine residue located inside the pocket.", "evidence": [ { "database": "RefSeq", "id": "NP_001287879", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287879" }, { "database": "PubMed", "id": "29463709", "url": "https://glygen.org/publication/PubMed/29463709" } ] }, { "annotation": "Chromatin reader component of the NuA4 histone acetyltransferase (HAT) complex, a complex involved in transcriptional activation of select genes principally by acetylation of nucleosomal histones H4 and H2A (PubMed:12963728, PubMed:14966270). Specifically recognizes and binds acylated histone H3, with a preference for histone H3 diacetylated at 'Lys-18' and 'Lys-27' (H3K18ac and H3K27ac) or histone H3 diacetylated at 'Lys-14' and 'Lys-27' (H3K14ac and H3K27ac) (PubMed:29437725, PubMed:30071723, PubMed:29900004). Also able to recognize and bind crotonylated histone H3 (PubMed:30071723). May also recognize and bind histone H3 succinylated at 'Lys-122' (H3K122succ); additional evidences are however required to confirm this result in vivo (PubMed:29463709). Plays a key role in histone variant H2AZ1/H2A.Z deposition into specific chromatin regions: recognizes and binds H3K14ac and H3K27ac on the promoters of actively transcribed genes and recruits NuA4-related complex to deposit H2AZ1/H2A.Z (PubMed:29437725). H2AZ1/H2A.Z deposition is required for maintenance of embryonic stem cell (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "O95619", "url": "https://www.uniprot.org/uniprot/O95619#function" }, { "database": "PubMed", "id": "29463709", "url": "https://glygen.org/publication/PubMed/29463709" }, { "database": "PubMed", "id": "29437725", "url": "https://glygen.org/publication/PubMed/29437725" }, { "database": "PubMed", "id": "14966270", "url": "https://glygen.org/publication/PubMed/14966270" }, { "database": "PubMed", "id": "12963728", "url": "https://glygen.org/publication/PubMed/12963728" }, { "database": "PubMed", "id": "30071723", "url": "https://glygen.org/publication/PubMed/30071723" }, { "database": "PubMed", "id": "29900004", "url": "https://glygen.org/publication/PubMed/29900004" }, { "database": "UniProtKB", "id": "Q9CR11", "url": "https://www.uniprot.org/uniprot/Q9CR11#function" } ] }, { "annotation": "GAS41 mediates proliferation and GEM chemoresistance via H2A.Z.2 and Notch1 in pancreatic cancer.", "evidence": [ { "database": "RefSeq", "id": "NP_001287879", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287879" }, { "database": "PubMed", "id": "35503594", "url": "https://glygen.org/publication/PubMed/35503594" } ] }, { "annotation": "The protein encoded by this gene is found in the nucleoli. It has high sequence homology to human MLLT1, and yeast and human MLLT3 proteins. Both MLLT1 and MLLT3 proteins belong to a class of transcription factors, indicating that the encoded protein might also represent a transcription factor. This protein is thought to be required for RNA transcription. This gene has been shown to be amplified in tumors. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2014].", "evidence": [ { "database": "RefSeq", "id": "NP_001287879", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287879" } ] }, { "annotation": "This study determined the crystal structure of the GAS41 YEATS domain with H3K23acK27ac to visualize the molecular basis of diacetylated histone binding. The results suggest a unique binding mode in which full-length GAS41 is a reader of diacetylated histones.", "evidence": [ { "database": "RefSeq", "id": "NP_001287879", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287879" }, { "database": "PubMed", "id": "30071723", "url": "https://glygen.org/publication/PubMed/30071723" } ] } ], "disease": [], "snv": [], "mutagenesis": [ { "start_pos": 43, "end_pos": 43, "sequence_org": "H", "sequence_mut": "A", "comment": "Impaired binding to histone H3 succinylated at 'Lys-122' (H3K122succ).", "evidence": [ { "database": "UniProtKB", "id": "O95619", "url": "https://www.uniprot.org/uniprot/O95619" }, { "database": "PubMed", "id": "29463709", "url": "https://glygen.org/publication/PubMed/29463709" } ] }, { "start_pos": 74, "end_pos": 74, "sequence_org": "Y", "sequence_mut": "A", "comment": "Impaired binding to histone H3 diacetylated at 'Lys-14' and 'Lys-27' (H3K14ac and H3K27ac), and subsequent deposition of histone H2AZ1/H2A.Z into specific chromatin regions; when associated with A-93.", "evidence": [ { "database": "UniProtKB", "id": "O95619", "url": "https://www.uniprot.org/uniprot/O95619" }, { "database": "PubMed", "id": "29437725", "url": "https://glygen.org/publication/PubMed/29437725" } ] }, { "start_pos": 93, "end_pos": 93, "sequence_org": "W", "sequence_mut": "A", "comment": "Impaired binding to histone H3 diacetylated at 'Lys-14' and 'Lys-27' (H3K14ac and H3K27ac), and subsequent deposition of histone H2AZ1/H2A.Z into specific chromatin regions; when associated with A-74.", "evidence": [ { "database": "UniProtKB", "id": "O95619", "url": "https://www.uniprot.org/uniprot/O95619" }, { "database": "PubMed", "id": "29437725", "url": "https://glygen.org/publication/PubMed/29437725" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "68.03", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000127337", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000127337" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "81.83", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000127337", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000127337" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "69.06", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000127337", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000127337" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "49.96", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000127337", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000127337" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "84.79", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000127337", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000127337" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "87.99", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000127337", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000127337" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "47.76", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000127337", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000127337" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "81.1", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000127337", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000127337" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "80.12", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000127337", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000127337" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "47.6", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000127337", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000127337" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "74.49", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000127337", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000127337" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "79.38", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000127337", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000127337" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "82.8", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000127337", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000127337" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O95619", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95619" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, 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"https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O95619", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95619" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O95619", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95619" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": 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This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "O95619", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95619" } ], "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": 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"database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O95619-1", "url": "https://www.uniprot.org/uniprot/O95619-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MFKRMAEFGPDSGGRVKGVTIVKPIVYGNVARYFGKKREEDGHTHQWTVYVKPYRNEDMSAYVKKIQFKLHESYGNPLRVVTKPPYEITETGWGEFEIIIKIFFIDPNERPVTLYHLLKLFQSDTNAMLGKKTVVSEFYDEMIFQDPTAMMQQLLTTSRQLTLGAYKHETEFAELEVKTREKLEAAKKKTSFEIAELKERLKASRETINCLKNEIRKLEEDDQAKDI", "length": 227, "header": "sp|O95619-1|YETS4_HUMAN Isoform 1 of YEATS domain-containing protein 4 OS=Homo sapiens OX=9606 GN=YEATS4 PE=1 SV=1 CANONICAL=O95619-1" }, "isoforms": [ { "isoform_ac": "F8VTR4-1", "url": "", "sequence": { "sequence": "MSAYVKKIQFKLHESYGNPLRVVTKPPYEITETGWGEFEIIIKIFFIDPNERPVTLYHLLKLFQSDTNAMLGKKTVVSEFYDEMIFQDPTAMMQQLLTTSRQLTLGAYKHETE", "length": 113, "header": "tr|F8VTR4-1|YETS4_HUMAN Computationally mapped isoform of YEATS domain-containing protein 4 OS=Homo sapiens OX=9606 GN=YEATS4 PE=1 SV=1 CANONICAL=O95619-1" }, "locus": { "chromosome": "12", "start_pos": 69370974, "end_pos": 69365636, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000549685.5", "url": "https://www.ensembl.org/id/ENST00000549685.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000448106.1", "url": "https://www.ensembl.org/id/ENSP00000448106.1" } ] } }, { "isoform_ac": "F8W0J4-1", "url": "", "sequence": { "sequence": "MFKRMAEFGPDSGGRVKGVTIVKPIVYGNVARYFGKKREEDGHTHQWTVYVKPYRNEVTLYHLLKLFQSDTNAMLGKKTVVSEFYDEMIFQDPTAMMQQLLTTSRQLTLGAYKHETEFAELEVKTREKLEAAKKKTSFEIAELKERLKASRETINCLKNEIRKLEEDDQAKDI", "length": 173, "header": "tr|F8W0J4-1|F8W0J4_HUMAN Computationally mapped isoform of YEATS domain containing 4 OS=Homo sapiens OX=9606 GN=YEATS4 PE=1 SV=1 CANONICAL=O95619-1" }, "locus": { "chromosome": "12", "start_pos": 69390313, "end_pos": 69359973, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000548020.5", "url": "https://www.ensembl.org/id/ENST00000548020.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000447199.1", "url": "https://www.ensembl.org/id/ENSP00000447199.1" } ] } }, { "isoform_ac": "F8W1B9-1", "url": "", "sequence": { "sequence": "MFKRMAEFGPDSGGRVKGVTIVKPIVYGNVARYFGKKREEDGHTHQWTVYVKPYRNEAKWLIPVISALWEAQAGGSLEPRSLRPDWQHSKTPSLQKKKDMSAYVKKIQFKLHESYGNPLRVVTKPPYEITETGWGEFEIIIKIFFIDPNERPVTLYHLLKLFQSDTNAMLGKKTVVSEFYDEMIFQDPTAMMQQLLTTSRQLTLGAYKHET", "length": 211, "header": "tr|F8W1B9-1|F8W1B9_HUMAN Computationally mapped isoform of YEATS domain containing 4 OS=Homo sapiens OX=9606 GN=YEATS4 PE=1 SV=1 CANONICAL=O95619-1" }, "locus": { "chromosome": "12", "start_pos": 69370971, "end_pos": 69359973, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000552955.1", "url": "https://www.ensembl.org/id/ENST00000552955.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000446985.1", "url": "https://www.ensembl.org/id/ENSP00000446985.1" } ] } }, { "isoform_ac": "O95619-1", "url": "", "sequence": { "sequence": "MFKRMAEFGPDSGGRVKGVTIVKPIVYGNVARYFGKKREEDGHTHQWTVYVKPYRNEDMSAYVKKIQFKLHESYGNPLRVVTKPPYEITETGWGEFEIIIKIFFIDPNERPVTLYHLLKLFQSDTNAMLGKKTVVSEFYDEMIFQDPTAMMQQLLTTSRQLTLGAYKHETEFAELEVKTREKLEAAKKKTSFEIAELKERLKASRETINCLKNEIRKLEEDDQAKDI", "length": 227, "header": "sp|O95619-1|YETS4_HUMAN Isoform 1 of YEATS domain-containing protein 4 OS=Homo sapiens OX=9606 GN=YEATS4 PE=1 SV=1 CANONICAL=O95619-1" }, "locus": { "chromosome": "12", "start_pos": 69390313, "end_pos": 69359973, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000247843.7", "url": "https://www.ensembl.org/id/ENST00000247843.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000247843.2", "url": "https://www.ensembl.org/id/ENSP00000247843.2" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "O95619", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O95619" }, { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" } ] } ], "phosphorylation": [ { "start_pos": 123, "end_pos": 123, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O95619", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95619" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser123" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "A new human member of the MYST family of histone acetyl transferases with high sequence similarity to Drosophila MOF.", "journal": "Biochimica et biophysica acta", "date": "2000", "authors": "Neal KC, Pannuti A, Smith ER, Lucchesi JC", "evidence": [ { "database": "Reactome", "id": "R-HSA-3214847", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3214847" } ], "reference": [ { "type": "PubMed", "id": "10786633", "url": "https://glygen.org/publication/PubMed/10786633" } ] }, { "title": "ATF-2 has intrinsic histone acetyltransferase activity which is modulated by phosphorylation.", "journal": "Nature", "date": "2000", "authors": "Kawasaki H, Schiltz L, Chiu R, Itakura K, Taira K, Nakatani Y, Yokoyama KK", "evidence": [ { "database": "Reactome", "id": "R-HSA-3214847", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3214847" } ], "reference": [ { "type": "PubMed", "id": "10821277", "url": "https://glygen.org/publication/PubMed/10821277" } ] }, { "title": "GAS41, a highly conserved protein in eukaryotic nuclei, binds to NuMA.", "journal": "J. Biol. Chem.", "date": "2000", "authors": "Harborth J, Weber K, Osborn M", "evidence": [ { "database": "UniProtKB", "id": "O95619", "url": "https://www.uniprot.org/uniprot/O95619" } ], "reference": [ { "type": "PubMed", "id": "10913114", "url": "https://glygen.org/publication/PubMed/10913114" } ] }, { "title": "Cardiac malformations, adrenal agenesis, neural crest defects and exencephaly in mice lacking Cited2, a new Tfap2 co-activator.", "journal": "Nature genetics", "date": "2001", "authors": "Bamforth SD, Braganca J, Eloranta JJ, Murdoch JN, Marques FI, Kranc KR, Farza H, Henderson DJ, Hurst HC, Bhattacharya S", "evidence": [ { "database": "Reactome", "id": "R-HSA-8866907", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8866907" } ], "reference": [ { "type": "PubMed", "id": "11694877", "url": "https://glygen.org/publication/PubMed/11694877" } ] }, { "title": "Human CREB-binding protein/p300-interacting transactivator with ED-rich tail (CITED) 4, a new member of the CITED family, functions as a co-activator for transcription factor AP-2.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Braganca J, Swingler T, Marques FI, Jones T, Eloranta JJ, Hurst HC, Shioda T, Bhattacharya S", "evidence": [ { "database": "Reactome", "id": "R-HSA-8866907", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8866907" } ], "reference": [ { "type": "PubMed", "id": "11744733", "url": "https://glygen.org/publication/PubMed/11744733" } ] }, { "title": "The MLL fusion partner AF10 binds GAS41, a protein that interacts with the human SWI/SNF complex.", "journal": "Blood", "date": "2002", "authors": "Debernardi Silvana, Bassini Alessandra, Jones Louise K, Chaplin Tracy, Linder Britta, de Bruijn Diederik R H, Meese Eckart, Young Bryan D", "evidence": [ { "database": "UniProtKB", "id": "O95619", "url": "https://www.uniprot.org/uniprot/O95619" } ], "reference": [ { "type": "PubMed", "id": "11756182", "url": "https://glygen.org/publication/PubMed/11756182" } ] }, { "title": "Interaction of the transforming acidic coiled-coil 1 (TACC1) protein with ch-TOG and GAS41/NuBI1 suggests multiple TACC1-containing protein complexes in human cells.", "journal": "Biochem. J.", "date": "2002", "authors": "Lauffart B, Howell SJ, Tasch JE, Cowell JK, Still IH", "evidence": [ { "database": "UniProtKB", "id": "O95619", "url": "https://www.uniprot.org/uniprot/O95619" } ], "reference": [ { "type": "PubMed", "id": "11903063", "url": "https://glygen.org/publication/PubMed/11903063" } ] }, { "title": "Physical and functional interactions among AP-2 transcription factors, p300/CREB-binding protein, and CITED2.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Braganca J, Eloranta JJ, Bamforth SD, Ibbitt JC, Hurst HC, Bhattacharya S", "evidence": [ { "database": "Reactome", "id": "R-HSA-8866907", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8866907" } ], "reference": [ { "type": "PubMed", "id": "12586840", "url": "https://glygen.org/publication/PubMed/12586840" } ] }, { "title": "Molecular cloning, genomic structure and interactions of the putative breast tumor suppressor TACC2.", "journal": "Genomics", "date": "2003", "authors": "Lauffart Brenda, Gangisetty Omkaram, Still Ivan H", "evidence": [ { "database": "UniProtKB", "id": "O95619", "url": "https://www.uniprot.org/uniprot/O95619" } ], "reference": [ { "type": "PubMed", "id": "12620397", "url": "https://glygen.org/publication/PubMed/12620397" } ] }, { "title": "Identification of new subunits of the multiprotein mammalian TRRAP/TIP60-containing histone acetyltransferase complex.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Cai Y, Jin J, Tomomori-Sato C, Sato S, Sorokina I, Parmely TJ, Conaway RC, Conaway JW", "evidence": [ { "database": "UniProtKB", "id": "O95619", "url": "https://www.uniprot.org/uniprot/O95619" } ], "reference": [ { "type": "PubMed", "id": "12963728", "url": "https://glygen.org/publication/PubMed/12963728" } ] }, { "title": "Structural and functional conservation of the NuA4 histone acetyltransferase complex from yeast to humans.", "journal": "Molecular and cellular biology", "date": "2004-03", "authors": "Doyon Yannick, Selleck William, Lane William S, Tan Song, C\u00f4t\u00e9 Jacques", "evidence": [ { "database": "UniProtKB", "id": "O95619", "url": "https://www.uniprot.org/uniprot/O95619" } ], "reference": [ { "type": "PubMed", "id": "14966270", "url": "https://glygen.org/publication/PubMed/14966270" } ] }, { "title": "The highly conserved and multifunctional NuA4 HAT complex.", "journal": "Curr. Opin. Genet. Dev.", "date": "2004", "authors": "Doyon Yannick, C\u00f4t\u00e9 Jacques", "evidence": [ { "database": "UniProtKB", "id": "O95619", "url": "https://www.uniprot.org/uniprot/O95619" } ], "reference": [ { "type": "PubMed", "id": "15196461", "url": "https://glygen.org/publication/PubMed/15196461" } ] }, { "title": "Gene expression signatures identify rhabdomyosarcoma subtypes and detect a novel t(2;2)(q35;p23) translocation fusing PAX3 to NCOA1.", "journal": "Cancer research", "date": "2004", "authors": "Wachtel M, Dettling M, Koscielniak E, Stegmaier S, Treuner J, Simon-Klingenstein K, Buhlmann P, Niggli FK, Schafer BW", "evidence": [ { "database": "Reactome", "id": "R-HSA-3214847", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3214847" } ], "reference": [ { "type": "PubMed", "id": "15313887", "url": "https://glygen.org/publication/PubMed/15313887" } ] }, { "title": "Physical and functional interactions between the Wwox tumor suppressor protein and the AP-2gamma transcription factor.", "journal": "Cancer research", "date": "2004", "authors": "Aqeilan RI, Palamarchuk A, Weigel RJ, Herrero JJ, Pekarsky Y, Croce CM", "evidence": [ { "database": "Reactome", "id": "R-HSA-8866907", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8866907" } ], "reference": [ { "type": "PubMed", "id": "15548692", "url": "https://glygen.org/publication/PubMed/15548692" } ] }, { "title": "ING tumor suppressor proteins are critical regulators of chromatin acetylation required for genome expression and perpetuation.", "journal": "Molecular cell", "date": "2006", "authors": "Doyon Y, Cayrou C, Ullah M, Landry AJ, Cote V, Selleck W, Lane WS, Tan S, Yang XJ, Cote J", "evidence": [ { "database": "Reactome", "id": "R-HSA-3214847", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3214847" } ], "reference": [ { "type": "PubMed", "id": "16387653", "url": "https://glygen.org/publication/PubMed/16387653" } ] }, { "title": "GAS41 interacts with transcription factor AP-2beta and stimulates AP-2beta-mediated transactivation.", "journal": "Nucleic acids research", "date": "2006", "authors": "Ding X, Fan C, Zhou J, Zhong Y, Liu R, Ren K, Hu X, Luo C, Xiao S, Wang Y, Feng D, Zhang J", "evidence": [ { "database": "Reactome", "id": "R-HSA-8866907", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8866907" } ], "reference": [ { "type": "PubMed", "id": "16698963", "url": "https://glygen.org/publication/PubMed/16698963" } ] }, { "title": "Molecular basis of histone H3K4me3 recognition by ING4.", "journal": "The Journal of biological chemistry", "date": "2008", "authors": "Palacios A, Munoz IG, Pantoja-Uceda D, Marcaida MJ, Torres D, Martin-Garcia JM, Luque I, Montoya G, Blanco FJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-3214847", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3214847" } ], "reference": [ { "type": "PubMed", "id": "18381289", "url": "https://glygen.org/publication/PubMed/18381289" } ] }, { "title": "EML3 is a nuclear microtubule-binding protein required for the correct alignment of chromosomes in metaphase.", "journal": "J. Cell Sci.", "date": "2008", "authors": "Tegha-Dunghu J, Neumann B, Reber S, Krause R, Erfle H, Walter T, Held M, Rogers P, Hupfeld K, Ruppert T, Ellenberg J, Gruss OJ", "evidence": [ { "database": "UniProtKB", "id": "O95619", "url": "https://www.uniprot.org/uniprot/O95619" } ], "reference": [ { "type": "PubMed", "id": "18445686", "url": "https://glygen.org/publication/PubMed/18445686" } ] }, { "title": "The crystal structure of the ING5 PHD finger in complex with an H3K4me3 histone peptide.", "journal": "Proteins", "date": "2008", "authors": "Champagne KS, Saksouk N, Pena PV, Johnson K, Ullah M, Yang XJ, Cote J, Kutateladze TG", "evidence": [ { "database": "Reactome", "id": "R-HSA-3214847", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3214847" } ], "reference": [ { "type": "PubMed", "id": "18623064", "url": "https://glygen.org/publication/PubMed/18623064" } ] }, { "title": "ING4 mediates crosstalk between histone H3 K4 trimethylation and H3 acetylation to attenuate cellular transformation.", "journal": "Molecular cell", "date": "2009", "authors": "Hung T, Binda O, Champagne KS, Kuo AJ, Johnson K, Chang HY, Simon MD, Kutateladze TG, Gozani O", "evidence": [ { "database": "Reactome", "id": "R-HSA-3214847", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3214847" } ], "reference": [ { "type": "PubMed", "id": "19187765", "url": "https://glygen.org/publication/PubMed/19187765" } ] }, { "title": "Characterization of a dimerization motif in AP-2 and its function in heterologous DNA-binding proteins.", "journal": "Science (New York, N.Y.)", "date": "1991", "authors": "Williams T, Tjian R", "evidence": [ { "database": "Reactome", "id": "R-HSA-8866907", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8866907" } ], "reference": [ { "type": "PubMed", "id": "1998122", "url": "https://glygen.org/publication/PubMed/1998122" } ] }, { "title": "Subunit composition and substrate specificity of a MOF-containing histone acetyltransferase distinct from the male-specific lethal (MSL) complex.", "journal": "The Journal of biological chemistry", "date": "2010", "authors": "Cai Y, Jin J, Swanson SK, Cole MD, Choi SH, Florens L, Washburn MP, Conaway JW, Conaway RC", "evidence": [ { "database": "Reactome", "id": "R-HSA-3214847", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3214847" } ], "reference": [ { "type": "PubMed", "id": "20018852", "url": "https://glygen.org/publication/PubMed/20018852" } ] }, { "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": "O95619", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95619" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "title": "Analysis of the DNA-binding and activation properties of the human transcription factor AP-2.", "journal": "Genes & development", "date": "1991", "authors": "Williams T, Tjian R", "evidence": [ { "database": "Reactome", "id": "R-HSA-8866907", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8866907" } ], "reference": [ { "type": "PubMed", "id": "2010091", "url": "https://glygen.org/publication/PubMed/2010091" } ] }, { "title": "Proteome wide purification and identification of O-GlcNAc-modified proteins using click chemistry and mass spectrometry.", "journal": "Journal of proteome research", "date": "2013", "authors": "Hahne H, Sobotzki N, Nyberg T, Helm D, Borodkin VS, van Aalten DM, Agnew B, Kuster B", "evidence": [ { "database": "O-GlcNAc Database", "id": "O95619", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O95619" } ], "reference": [ { "type": "PubMed", "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498" } ] }, { "title": "Recognition of histone acetylation by the GAS41 YEATS domain promotes H2A.Z deposition in non-small cell lung cancer.", "journal": "Genes & development", "date": "2018", "authors": "Hsu CC, Shi J, Yuan C, Zhao D, Jiang S, Lyu J, Wang X, Li H, Wen H, Li W, Shi X", "evidence": [ { "database": "UniProtKB", "id": "O95619", "url": "https://www.uniprot.org/uniprot/O95619" } ], "reference": [ { "type": "PubMed", "id": "29437725", "url": "https://glygen.org/publication/PubMed/29437725" } ] }, { "title": "Identification of the YEATS domain of GAS41 as a pH-dependent reader of histone succinylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2018", "authors": "Wang Y, Jin J, Chung MWH, Feng L, Sun H, Hao Q", "evidence": [ { "database": "UniProtKB", "id": "O95619", "url": "https://www.uniprot.org/uniprot/O95619" }, { "database": "RefSeq", "id": "NP_001287879", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287879" } ], "reference": [ { "type": "PubMed", "id": "29463709", "url": "https://glygen.org/publication/PubMed/29463709" } ] }, { "title": "Gas41 links histone acetylation to H2A.Z deposition and maintenance of embryonic stem cell identity.", "journal": "Cell discovery", "date": "2018", "authors": "Hsu CC, Zhao D, Shi J, Peng D, Guan H, Li Y, Huang Y, Wen H, Li W, Li H, Shi X", "evidence": [ { "database": "UniProtKB", "id": "O95619", "url": "https://www.uniprot.org/uniprot/O95619" } ], "reference": [ { "type": "PubMed", "id": "29900004", "url": "https://glygen.org/publication/PubMed/29900004" } ] }, { "title": "GAS41 Recognizes Diacetylated Histone H3 through a Bivalent Binding Mode.", "journal": "ACS chemical biology", "date": "2018", "authors": "Cho HJ, Li H, Linhares BM, Kim E, Ndoj J, Miao H, Grembecka J, Cierpicki T", "evidence": [ { "database": "UniProtKB", "id": "O95619", "url": "https://www.uniprot.org/uniprot/O95619" }, { "database": "RefSeq", "id": "NP_001287879", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287879" } ], "reference": [ { "type": "PubMed", "id": "30071723", "url": "https://glygen.org/publication/PubMed/30071723" } ] }, { "title": "GAS41 mediates proliferation and GEM chemoresistance via H2A.Z.2 and Notch1 in pancreatic cancer.", "journal": "Cellular oncology (Dordrecht)", "date": "2022", "authors": "Han S, Cao C, Liu R, Yuan Y, Pan L, Xu M, Hu C, Zhang X, Li M, Zhang X", "evidence": [ { "database": "RefSeq", "id": "NP_001287879", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287879" } ], "reference": [ { "type": "PubMed", "id": "35503594", "url": "https://glygen.org/publication/PubMed/35503594" } ] }, { "title": "Cloning of a novel transcription factor-like gene amplified in human glioma including astrocytoma grade I.", "journal": "Hum. Mol. Genet.", "date": "1997", "authors": "Fischer U, Heckel D, Michel A, Janka M, Hulsebos T, Meese E", "evidence": [ { "database": "UniProtKB", "id": "O95619", "url": "https://www.uniprot.org/uniprot/O95619" } ], "reference": [ { "type": "PubMed", "id": "9302258", "url": "https://glygen.org/publication/PubMed/9302258" } ] }, { "title": "Nucleosomal DNA regulates the core-histone-binding subunit of the human Hat1 acetyltransferase.", "journal": "Current biology : CB", "date": "1998", "authors": "Verreault A, Kaufman PD, Kobayashi R, Stillman B", "evidence": [ { "database": "Reactome", "id": "R-HSA-3214847", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3214847" } ], "reference": [ { "type": "PubMed", "id": "9427644", "url": "https://glygen.org/publication/PubMed/9427644" } ] }, { "title": "A novel fusion between MOZ and the nuclear receptor coactivator TIF2 in acute myeloid leukemia.", "journal": "Blood", "date": "1998", "authors": "Carapeti M, Aguiar RC, Goldman JM, Cross NC", "evidence": [ { "database": "Reactome", "id": "R-HSA-3214847", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3214847" } ], "reference": [ { "type": "PubMed", "id": "9558366", "url": "https://glygen.org/publication/PubMed/9558366" } ] }, { "title": "Overlapping but distinct patterns of histone acetylation by the human coactivators p300 and PCAF within nucleosomal substrates.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Schiltz RL, Mizzen CA, Vassilev A, Cook RG, Allis CD, Nakatani Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-3214847", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3214847" } ], "reference": [ { "type": "PubMed", "id": "9880483", "url": "https://glygen.org/publication/PubMed/9880483" } ] } ], "pathway": [ { "id": "hsa:8089", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:8089", "resource": "KEGG Pathway" }, { "id": "R-HSA-3214847", "name": "HATs acetylate histones", "url": 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