{ "uniprot_canonical_ac": "A6NFN3-1", "uniprot_ac": "A6NFN3", "uniprot_id": "RFOX3_HUMAN", "mass": { "chemical_mass": 33873.0, "monoisotopic_mass": 33873.0 }, "refseq": { "ac": "NP_001076044", "name": "RNA binding protein fox-1 homolog 3 isoform 1", "summary": "This gene encodes a member of the RNA-binding FOX protein family which is involved in the regulation of alternative splicing of pre-mRNA. The protein has an N-terminal proline-rich region, an RNA recognition motif (RRM) domain, and a C-terminal alanine-rich region. This gene produces the neuronal nuclei (NeuN) antigen that has been widely used as a marker for post-mitotic neurons. This gene has its highest expression in the central nervous system and plays a prominent role in neural tissue development and regulation of adult brain function. Mutations in this gene have been associated with numerous neurological disorders. Alternative splicing of this gene results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, May 2017].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001076044" }, "gene_names": [ { "name": "RBFOX3", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/A6NFN3", "id": "A6NFN3" }, { "name": "FOX-3; FOX3; HRNBP3; NEUN", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001076044", "id": "NP_001076044" }, { "name": "RBFOX3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001076044", "id": "NP_001076044" } ], "protein_names": [ { "name": "RNA binding protein fox-1 homolog 3", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "A6NFN3" }, { "name": "Fox-1 homolog C", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "A6NFN3" }, { "name": "NeuN antigen", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "A6NFN3" }, { "name": "Neuronal nuclei antigen", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "A6NFN3" }, { "name": "RNA binding protein fox-1 homolog 3 isoform 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001076044", "id": "NP_001076044" }, { "name": "fox-1 homolog C; hexaribonucleotide binding protein 3; neuN antigen; neuronal nuclei antigen; RNA binding protein, fox-1 homolog 3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001076044", "id": "NP_001076044" } ], "function": [ { "annotation": "Altered temporal sequence of transcriptional regulators in the generation of human cerebellar granule cells. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001076044", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001076044" }, { "database": "PubMed", "id": "34842137", "url": "https://glygen.org/publication/PubMed/34842137" } ] }, { "annotation": "Differential Clinical Features in Colombian Patients With Rolandic Epilepsy and Suggestion of Unlikely Association With GRIN2A, RBFOX1, or RBFOX3 Gene Variants.", "evidence": [ { "database": "RefSeq", "id": "NP_001076044", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001076044" }, { "database": "PubMed", "id": "34039076", "url": "https://glygen.org/publication/PubMed/34039076" } ] }, { "annotation": "Genetic variants in splicing factor genes and susceptibility to bladder cancer.", "evidence": [ { "database": "RefSeq", "id": "NP_001076044", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001076044" }, { "database": "PubMed", "id": "34673209", "url": "https://glygen.org/publication/PubMed/34673209" } ] }, { "annotation": "High NeuN levels are associated with supratentorial ependymomas.", "evidence": [ { "database": "RefSeq", "id": "NP_001076044", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001076044" }, { "database": "PubMed", "id": "23371454", "url": "https://glygen.org/publication/PubMed/23371454" } ] }, { "annotation": "In addition, eight genes classified as 'second tier' hits in the original study (PAX7, THADA, COL8A1/FILIP1L, DCAF4L2, GADD45G, NTN1, RBFOX3 and FOXE1) showed evidence of linkage and association in this replication sample.", "evidence": [ { "database": "RefSeq", "id": "NP_001076044", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001076044" }, { "database": "PubMed", "id": "23512105", "url": "https://glygen.org/publication/PubMed/23512105" } ] }, { "annotation": "NeuN (neuronal nuclei) is a neuron-specific nuclear protein identified by anti-NeuN antibody, and widely used as the postmitotic neuron marker. NeuN is identified as the Fox-3 gene product by mass spectrometry, immunoblotting, RNAi, and immunostaining.", "evidence": [ { "database": "RefSeq", "id": "NP_001076044", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001076044" }, { "database": "PubMed", "id": "19713214", "url": "https://glygen.org/publication/PubMed/19713214" } ] }, { "annotation": "NeuN, a DNA-binding neuron-specific protein expressed by Merkel cell carcinoma: analysis of 15 cases.", "evidence": [ { "database": "RefSeq", "id": "NP_001076044", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001076044" }, { "database": "PubMed", "id": "34974547", "url": "https://glygen.org/publication/PubMed/34974547" } ] }, { "annotation": "Pre-mRNA alternative splicing regulator. Regulates alternative splicing of RBFOX2 to enhance the production of mRNA species that are targeted for nonsense-mediated decay (NMD).", "evidence": [ { "database": "UniProtKB", "id": "A6NFN3", "url": "https://www.uniprot.org/uniprot/A6NFN3#function" }, { "database": "UniProtKB", "id": "Q8BIF2", "url": "https://www.uniprot.org/uniprot/Q8BIF2#function" } ] }, { "annotation": "RBFOX3 knockdown synergized with 5-FU to inhibit the growth and invasion of HCC cells through PI3K/AKT and epithelial-mesenchymal transition (EMT) signaling, and promote apoptosis by activating the cytochrome-c/caspase signaling pathway.", "evidence": [ { "database": "RefSeq", "id": "NP_001076044", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001076044" }, { "database": "PubMed", "id": "29689552", "url": "https://glygen.org/publication/PubMed/29689552" } ] }, { "annotation": "RNA-binding protein that regulates alternative splicing events.", "evidence": [ { "database": "UniProtKB", "id": "J3QRF4", "url": "https://www.uniprot.org/uniprot/J3QRF4#function" }, { "database": "UniProtKB", "id": "PIRNR037932", "url": "https://www.uniprot.org/uniprot/PIRNR037932#function" }, { "database": "UniProtKB", "id": "A0A8I5KWJ3", "url": "https://www.uniprot.org/uniprot/A0A8I5KWJ3#function" }, { "database": "UniProtKB", "id": "J3QQZ2", "url": "https://www.uniprot.org/uniprot/J3QQZ2#function" } ] }, { "annotation": "This gene encodes a member of the RNA-binding FOX protein family which is involved in the regulation of alternative splicing of pre-mRNA. The protein has an N-terminal proline-rich region, an RNA recognition motif (RRM) domain, and a C-terminal alanine-rich region. This gene produces the neuronal nuclei (NeuN) antigen that has been widely used as a marker for post-mitotic neurons. This gene has its highest expression in the central nervous system and plays a prominent role in neural tissue development and regulation of adult brain function. Mutations in this gene have been associated with numerous neurological disorders. Alternative splicing of this gene results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, May 2017].", "evidence": [ { "database": "RefSeq", "id": "NP_001076044", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001076044" } ] } ], "disease": [], "snv": [], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "54.08", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000167281", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000167281" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "41.27", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000167281", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000167281" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "57.91", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000167281", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000167281" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "93.44", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000167281", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000167281" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "60.78", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000167281", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000167281" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "81.53", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000167281", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000167281" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "53.12", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000167281", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000167281" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "45.69", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000167281", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000167281" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "89.13", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000167281", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000167281" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "54.32", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000167281", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000167281" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "A6NFN3", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A6NFN3" } ], "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, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL 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"name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", 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"http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - 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", 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"https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", 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"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": "" 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"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": "Yes", "trend": "up", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "A6NFN3", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A6NFN3" } ], "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/A6NFN3" } ], "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 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"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": "No", "trend": "down", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "A6NFN3", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A6NFN3" } ], "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": "A6NFN3", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A6NFN3" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A6NFN3" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "No", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "A6NFN3", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A6NFN3" } ], "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": 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"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A6NFN3" } ], "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Esophageal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "A6NFN3", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A6NFN3" } ], "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of 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"url": "https://www.uniprot.org/uniprot/K7EJX6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7EQK7", "url": "https://www.uniprot.org/uniprot/K7EQK7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7EQK7-1", "url": "https://www.uniprot.org/uniprot/K7EQK7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7ESF7", "url": "https://www.uniprot.org/uniprot/K7ESF7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7ESF7-1", "url": "https://www.uniprot.org/uniprot/K7ESF7-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MAQPYPPAQYPPPPQNGIPAEYAPPPPHPTQDYSGQTPVPTEHGMTLYTPAQTHPEQPGSEASTQPIAGTQTVPQTDEAAQTDSQPLHPSDPTEKQQPKRLHVSNIPFRFRDPDLRQMFGQFGKILDVEIIFNERGSKGFGFVTFETSSDADRAREKLNGTIVEGRKIEVNNATARVMTNKKTGNPYTNGWKLNPVVGAVYGPEFYAVTGFPYPTTGTAVAYRGAHLRGRGRAVYNTFRAAPPPPPIPTYGAVVYQDGFYGAEIYGGYAAYRYAQPAAAAAAYSDSYGRVYAAADPYHHTIGPAATYSIGTM", "length": 312, "header": "sp|A6NFN3-1|RFOX3_HUMAN Isoform 1 of RNA binding protein fox-1 homolog 3 OS=Homo sapiens OX=9606 GN=RBFOX3 PE=2 SV=4 CANONICAL=A6NFN3-1" }, "isoforms": [ { "isoform_ac": "A0A3B3ITL7-1", "url": "", "sequence": { "sequence": "TLYTPAQTHPEQPGSEASTQPIAGTQTVPQTDEAAQTDSQPLHPSDPTEKQQPKRLHVSNIPFRFRDPDLRQMFGQFGKILDVEIIFNERGSKGFGFVTFETSSDADRAREKLNGTIVEGRKIEVNNATARVMTNKKTGNPYTNGWKLNPVVGAVYGPEFYAVTGFPYPTTGTAVAYRGAHLRGRGRAVYNTFRAAPPPPPIPTYGAALEQTLVKMPVPWAGLAPCPLPPQQTPEPAYPTSPAFPPLSCPFASRVVYQDGFYGAEIYGGYAAYRYAQPAAAAAAYSDSYGRVYAAADPYHHTIGPAATYSIGTM", "length": 314, "header": "tr|A0A3B3ITL7-1|A0A3B3ITL7_HUMAN Computationally mapped isoform of RNA binding fox-1 homolog 3 OS=Homo sapiens OX=9606 GN=RBFOX3 PE=1 SV=1 CANONICAL=A6NFN3-1" }, "locus": { "chromosome": "17", "start_pos": 79115580, "end_pos": 79094451, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000648001.1", "url": "https://www.ensembl.org/id/ENST00000648001.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000497797.1", "url": "https://www.ensembl.org/id/ENSP00000497797.1" } ] } }, { "isoform_ac": "A0A8I5KWJ3-1", "url": "", "sequence": { "sequence": "MAQPYPPAQYPPPPQNGIPAEYAPPPPHPTQDYSGQTPVPTEHGMTLYTPAQTHPEQPGSEASTQPIAGTQTVPQTDEAAQTDSQPLHPSDPTEKQQPKRLHVSNIPFRFRDPDLRQMFGQFGKILDVEIIFNERGSKGFGFVTFETSSDADRAREKLNGTIVEGRKIEVNNATARVMTNKKTGNPYTNGWKLNPVVGAVYGPEFYAVTGFPYPTTGTAVAYRGAHLRGRGRAVYNTFRAAPPPPPIPTYGAALEQTLVKMPVPWAGLAPCPLPPQQTPEPAYPTSPAFPPLSCPFASRVVYQDGFYGAEIYGGYAAYRYAQPAAAAAAYSDSYGRVYAAADPYHHTIGPAATYSIGTM", "length": 359, "header": "tr|A0A8I5KWJ3-1|RFOX3_HUMAN Computationally mapped isoform of RNA binding protein fox-1 homolog 3 OS=Homo sapiens OX=9606 GN=RBFOX3 PE=2 SV=1 CANONICAL=A6NFN3-1" }, "locus": { "chromosome": "17", "start_pos": 79115715, "end_pos": 79094451, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000693108.1", "url": "https://www.ensembl.org/id/ENST00000693108.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000510395.1", "url": "https://www.ensembl.org/id/ENSP00000510395.1" } ] } }, { "isoform_ac": "A6NFN3-1", "url": "", "sequence": { "sequence": "MAQPYPPAQYPPPPQNGIPAEYAPPPPHPTQDYSGQTPVPTEHGMTLYTPAQTHPEQPGSEASTQPIAGTQTVPQTDEAAQTDSQPLHPSDPTEKQQPKRLHVSNIPFRFRDPDLRQMFGQFGKILDVEIIFNERGSKGFGFVTFETSSDADRAREKLNGTIVEGRKIEVNNATARVMTNKKTGNPYTNGWKLNPVVGAVYGPEFYAVTGFPYPTTGTAVAYRGAHLRGRGRAVYNTFRAAPPPPPIPTYGAVVYQDGFYGAEIYGGYAAYRYAQPAAAAAAYSDSYGRVYAAADPYHHTIGPAATYSIGTM", "length": 312, "header": "sp|A6NFN3-1|RFOX3_HUMAN Isoform 1 of RNA binding protein fox-1 homolog 3 OS=Homo sapiens OX=9606 GN=RBFOX3 PE=2 SV=4 CANONICAL=A6NFN3-1" }, "locus": { "chromosome": "17", "start_pos": 79115715, "end_pos": 79094451, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000580155.5", "url": "https://www.ensembl.org/id/ENST00000580155.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000463653.1", "url": "https://www.ensembl.org/id/ENSP00000463653.1" } ] } }, { "isoform_ac": "A6NFN3-2", "url": "", "sequence": { "sequence": "MAQPYPPAQYPPPPQNGIPAEYAPPPPHPTQDYSGQTPVPTEHGMTLYTPAQTHPEQPGSEASTQPIAGTQTVPQTDEAAQTDSQPLHPSDPTEKQQPKRLHVSNIPFRFRDPDLRQMFGQFGKILDVEIIFNERGSKGFGFVTFETSSDADRAREKLNGTIVEGRKIEVNNATARVMTNKKTGNPYTNGWKLNPVVGAVYGPEFYAVTGFPYPTTGTAVAYRGAHLRGRGRAVYNTFRAAPPPPPIPTYGAVVYQDGFYGAEIYGGYAAYRYAQPAAAAAAYSDSYGRVYAAADPYHHTIGPAATYSIGTMVRSPGPPSPGCQS", "length": 325, "header": "sp|A6NFN3-2|RFOX3_HUMAN Isoform 2 of RNA binding protein fox-1 homolog 3 OS=Homo sapiens OX=9606 GN=RBFOX3 PE=2 SV=4 CANONICAL=A6NFN3-1" }, "locus": { "chromosome": "17", "start_pos": 79115715, "end_pos": 79094412, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000584778.5", "url": "https://www.ensembl.org/id/ENST00000584778.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000462007.1", "url": "https://www.ensembl.org/id/ENSP00000462007.1" } ] } }, { "isoform_ac": "J3QQZ2-1", "url": "", "sequence": { "sequence": "MAQPYPPAQYPPPPQNGIPAEYAPPPPHPTQDYSGQTPVPTEHGMTLYTPAQTHPEQPGSEASTQPIAGTQTVPQTDEAAQTDSQPLHPSDPTEKQQPKRLHVSNIPFRFRDPDLRQMFGQFGKILDVEIIFNERGSKVNNATARVMTNKKTGNPYTNGWKLNPVVGAVYGPEFYAVTGFPYPTTGTAVAYRGAHLRGRGRAVYNTFRAAPPPPPIPTYGAALEQTLVKMPVPWAGLAPCPLPPQQTPEPAYPTSPAFPPLSCPFASRVVYQDGFYGAEIYGGYAAYRYAQPAAAAAAYSDSYGRVYAAADPYHHTIGPAATYSIGTM", "length": 328, "header": "tr|J3QQZ2-1|J3QQZ2_HUMAN Computationally mapped isoform of RNA binding protein fox-1 homolog 3 OS=Homo sapiens OX=9606 GN=RBFOX3 PE=1 SV=1 CANONICAL=A6NFN3-1" }, "locus": { "chromosome": "17", "start_pos": 79115715, "end_pos": 79094451, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000582043.5", "url": "https://www.ensembl.org/id/ENST00000582043.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000463964.1", "url": "https://www.ensembl.org/id/ENSP00000463964.1" } ] } }, { "isoform_ac": "J3QRF4-1", "url": "", "sequence": { "sequence": "MAQPYPPAQYPPPPQNGIPAEYAPPPPHPTQDYSGQTPVPTEHGMTLYTPAQTHPEQPGSEASTQPIAGTQTVPTDEAAQTDSQPLHPSDPTEKQQPKRLHVSNIPFRFRDPDLRQMFGQFGKILDVEIIFNERGSKGFGFVTFETSSDADRAREKLNGTIVEGRKIEVNNATARVMTNKKTGNPYTNGWKLNPVVGAVYGPEFYAVTGFPYPTTGTAVAYRGAHLRGRGRAVYNTFRAAPPPPPIPTYGAALEQTLVKMPVPWAGLAPCPLPPQQTPEPAYPTSPAFPPLSCPFASRVVYQDGFYGAEIYGGYAAYRYAQPAAAAAAYSDSYGRVYAAADPYHHTIGPAATYSIGTM", "length": 358, "header": "tr|J3QRF4-1|J3QRF4_HUMAN Computationally mapped isoform of RNA binding protein fox-1 homolog 3 OS=Homo sapiens OX=9606 GN=RBFOX3 PE=1 SV=1 CANONICAL=A6NFN3-1" }, "locus": { "chromosome": "17", "start_pos": 79115715, "end_pos": 79094451, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000583458.5", "url": "https://www.ensembl.org/id/ENST00000583458.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000464186.1", "url": "https://www.ensembl.org/id/ENSP00000464186.1" } ] } }, { "isoform_ac": "K7EJX6-1", "url": "", "sequence": { "sequence": "XVVYQDGFYGAEIYGGYAAYRYAQPAAAAAAYSDSYGRVYAAADPYHHTIGPAATYSIGTMASLCRGGYSRFTPY", "length": 75, "header": "tr|K7EJX6-1|RFOX3_HUMAN Computationally mapped isoform of RNA binding protein fox-1 homolog 3 OS=Homo sapiens OX=9606 GN=RBFOX3 PE=2 SV=1 CANONICAL=A6NFN3-1" }, "locus": { "chromosome": "17", "start_pos": 79096693, "end_pos": 79092599, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000582880.6", "url": "https://www.ensembl.org/id/ENST00000582880.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000465367.1", "url": "https://www.ensembl.org/id/ENSP00000465367.1" } ] } }, { "isoform_ac": "K7EQK7-1", "url": "", "sequence": { "sequence": "MLCSMANSGCLLLSNSGSMLPHSVPCPPAFLYLQQSDQDATAPPEAMAQPYP", "length": 52, "header": "tr|K7EQK7-1|K7EQK7_HUMAN Computationally mapped isoform of RNA binding fox-1 homolog 3 OS=Homo sapiens OX=9606 GN=RBFOX3 PE=4 SV=1 CANONICAL=A6NFN3-1" }, "locus": { "chromosome": "17", "start_pos": 79183368, "end_pos": 79115698, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000580508.1", "url": "https://www.ensembl.org/id/ENST00000580508.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000467872.1", "url": "https://www.ensembl.org/id/ENSP00000467872.1" } ] } }, { "isoform_ac": "K7ESF7-1", "url": "", "sequence": { "sequence": "XVGAVYGPEFYAVTGFPYPTTGTAVAYRGAHLRGRGRAVYNTFRAAPPPPPIPTYGAVVYQDGFYGAEIYGGYAAYRYAQPAAAAAAYSDSYGRVYAAADPYHHTIGPAATYSIGTMASLCRGGYSRFTPY", "length": 131, "header": "tr|K7ESF7-1|K7ESF7_HUMAN Computationally mapped isoform of RNA binding fox-1 homolog 3 OS=Homo sapiens OX=9606 GN=RBFOX3 PE=1 SV=1 CANONICAL=A6NFN3-1" }, "locus": { "chromosome": "17", "start_pos": 79097726, "end_pos": 79092598, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000582894.5", "url": "https://www.ensembl.org/id/ENST00000582894.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000468693.1", "url": "https://www.ensembl.org/id/ENSP00000468693.1" } ] } } ], "glycosylation": [], "phosphorylation": [], "glycation": [], "keywords": [], "publication": [ { "title": "Identification of a novel basic helix-loop-helix-PAS factor, NXF, reveals a Sim2 competitive, positive regulatory role in dendritic-cytoskeleton modulator drebrin gene expression.", "journal": "Molecular and cellular biology", "date": "2004", "authors": "Ooe N, Saito K, Mikami N, Nakatuka I, Kaneko H", "evidence": [ { "database": "Reactome", "id": "R-HSA-9768919", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9768919" } ], "reference": [ { "type": "PubMed", "id": "14701734", "url": "https://glygen.org/publication/PubMed/14701734" } ] }, { "title": "Identification of neuronal nuclei (NeuN) as Fox-3, a new member of the Fox-1 gene family of splicing factors.", "journal": "The Journal of biological chemistry", "date": "2009", "authors": "Kim KK, Adelstein RS, Kawamoto S", "evidence": [ { "database": "RefSeq", "id": "NP_001076044", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001076044" } ], "reference": [ { "type": "PubMed", "id": "19713214", "url": "https://glygen.org/publication/PubMed/19713214" } ] }, { "title": "Variants in RET associated with Hirschsprung's disease affect binding of transcription factors and gene expression.", "journal": "Gastroenterology", "date": "2011", "authors": "Sribudiani Y, Metzger M, Osinga J, Rey A, Burns AJ, Thapar N, Hofstra RM", "evidence": [ { "database": "Reactome", "id": "R-HSA-9768919", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9768919" } ], "reference": [ { "type": "PubMed", "id": "20977903", "url": "https://glygen.org/publication/PubMed/20977903" } ] }, { "title": "Identification of cis-elements and transcription factors regulating neuronal activity-dependent transcription of human BDNF gene.", "journal": "The Journal of neuroscience : the official journal of the Society for Neuroscience", "date": "2011", "authors": "Pruunsild P, Sepp M, Orav E, Koppel I, Timmusk T", "evidence": [ { "database": "Reactome", "id": "R-HSA-9768919", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9768919" } ], "reference": [ { "type": "PubMed", "id": "21368041", "url": "https://glygen.org/publication/PubMed/21368041" } ] }, { "title": "Supra- and infratentorial pediatric ependymomas differ significantly in NeuN, p75 and GFAP expression.", "journal": "Journal of neuro-oncology", "date": "2013", "authors": "Hagel C, Treszl A, Fehlert J, Harder J, von Haxthausen F, Kern M, von Bueren AO, Kordes U", "evidence": [ { "database": "RefSeq", "id": "NP_001076044", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001076044" } ], "reference": [ { "type": "PubMed", "id": "23371454", "url": "https://glygen.org/publication/PubMed/23371454" } ] }, { "title": "Confirming genes influencing risk to cleft lip with/without cleft palate in a case-parent trio study.", "journal": "Human genetics", "date": "2013", "authors": "Beaty TH, Taub MA, Scott AF, Murray JC, Marazita ML, Schwender H, Parker MM, Hetmanski JB, Balakrishnan P, Mansilla MA, Mangold E, Ludwig KU, Noethen MM, Rubini M, Elcioglu N, Ruczinski I", "evidence": [ { "database": "RefSeq", "id": "NP_001076044", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001076044" } ], "reference": [ { "type": "PubMed", "id": "23512105", "url": "https://glygen.org/publication/PubMed/23512105" } ] }, { "title": "Altered subcellular localization of the NeuN/Rbfox3 RNA splicing factor in HIV-associated neurocognitive disorders (HAND).", "journal": "Neurosci. Lett.", "date": "2014", "authors": "Lucas Calixto-Hope, Calvez Mathilde, Babu Roshni, Brown Amanda", "evidence": [ { "database": "UniProtKB", "id": "A6NFN3", "url": "https://www.uniprot.org/uniprot/A6NFN3" } ], "reference": [ { "type": "PubMed", "id": "24215932", "url": "https://glygen.org/publication/PubMed/24215932" } ] }, { "title": "Regulation of the neuronal transcription factor NPAS4 by REST and microRNAs.", "journal": "Biochimica et biophysica acta", "date": "2014", "authors": "Bersten DC, Wright JA, McCarthy PJ, Whitelaw ML", "evidence": [ { "database": "Reactome", "id": "R-HSA-9768919", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9768919" } ], "reference": [ { "type": "PubMed", "id": "24291638", "url": "https://glygen.org/publication/PubMed/24291638" } ] }, { "title": "Human variants in the neuronal basic helix-loop-helix/Per-Arnt-Sim (bHLH/PAS) transcription factor complex NPAS4/ARNT2 disrupt function.", "journal": "PloS one", "date": "2014", "authors": "Bersten DC, Bruning JB, Peet DJ, Whitelaw ML", "evidence": [ { "database": "Reactome", "id": "R-HSA-9768919", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9768919" } ], "reference": [ { "type": "PubMed", "id": "24465693", "url": "https://glygen.org/publication/PubMed/24465693" } ] }, { "title": "MAGED1 is a novel regulator of a select subset of bHLH PAS transcription factors.", "journal": "The FEBS journal", "date": "2016", "authors": "Sullivan AE, Peet DJ, Whitelaw ML", "evidence": [ { "database": "Reactome", "id": "R-HSA-9768919", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9768919" } ], "reference": [ { "type": "PubMed", "id": "27472814", "url": "https://glygen.org/publication/PubMed/27472814" } ] }, { "title": "RBFOX3 Regulates the Chemosensitivity of Cancer Cells to 5-Fluorouracil via the PI3K/AKT, EMT and Cytochrome-C/Caspase Pathways.", "journal": "Cellular physiology and biochemistry : international journal of experimental cellular physiology, biochemistry, and pharmacology", "date": "2018", "authors": "Liu T, Wu X, Li Y, Lu W, Zheng F, Zhang C, Long Q, Qiu H, Li Y, Ge Q, Chen M, Yu X, Chen W, Zhang H, Huang W, Luo M, Deng W, Li L", "evidence": [ { "database": "RefSeq", "id": "NP_001076044", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001076044" } ], "reference": [ { "type": "PubMed", "id": "29689552", "url": "https://glygen.org/publication/PubMed/29689552" } ] }, { "title": "Genomic Decoding of Neuronal Depolarization by Stimulus-Specific NPAS4 Heterodimers.", "journal": "Cell", "date": "2019", "authors": "Brigidi GS, Hayes MGB, Delos Santos NP, Hartzell AL, Texari L, Lin PA, Bartlett A, Ecker JR, Benner C, Heinz S, Bloodgood BL", "evidence": [ { "database": "Reactome", "id": "R-HSA-9768919", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9768919" } ], "reference": [ { "type": "PubMed", "id": "31585079", "url": "https://glygen.org/publication/PubMed/31585079" } ] }, { "title": "Differential Clinical Features in Colombian Patients With Rolandic Epilepsy and Suggestion of Unlikely Association With GRIN2A, RBFOX1, or RBFOX3 Gene Variants.", "journal": "Journal of child neurology", "date": "2021", "authors": "Tascon-Arcila J, Rojas-Jimenez S, Cornejo-Sanchez D, Gomez-Builes P, Ucroz-Benavides A, Holguin BM, Restrepo-Arbelaez D, Gomez-Castillo C, Solarte-Mia R, Cornejo-Ochoa W, Pineda-Trujillo N", "evidence": [ { "database": "RefSeq", "id": "NP_001076044", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001076044" } ], "reference": [ { "type": "PubMed", "id": "34039076", "url": "https://glygen.org/publication/PubMed/34039076" } ] }, { "title": "Genetic variants in splicing factor genes and susceptibility to bladder cancer.", "journal": "Gene", "date": "2022", "authors": "Wang X, Guo Z, Zhu H, Xin J, Yuan L, Qin C, Wang M, Zhang Z, Wang Y, Chu H", "evidence": [ { "database": "RefSeq", "id": "NP_001076044", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001076044" } ], "reference": [ { "type": "PubMed", "id": "34673209", "url": "https://glygen.org/publication/PubMed/34673209" } ] }, { "title": "Altered temporal sequence of transcriptional regulators in the generation of human cerebellar granule cells.", "journal": "eLife", "date": "2021", "authors": "Behesti H, Kocabas A, Buchholz DE, Carroll TS, Hatten ME", "evidence": [ { "database": "RefSeq", "id": "NP_001076044", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001076044" } ], "reference": [ { "type": "PubMed", "id": "34842137", "url": "https://glygen.org/publication/PubMed/34842137" } ] }, { "title": "NeuN, a DNA-binding neuron-specific protein expressed by Merkel cell carcinoma: analysis of 15 cases.", "journal": "Pathologica", "date": "2021", "authors": "Ungari M, Manotti L, Tanzi G, Varotti E, Ferrero G, Gusolfino MD, Trombatore M, Cavazzuti L, Tolomini M", "evidence": [ { "database": "RefSeq", "id": "NP_001076044", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001076044" } ], "reference": [ { "type": "PubMed", "id": "34974547", 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