{ "uniprot_canonical_ac": "A0PJY2-1", "uniprot_ac": "A0PJY2", "uniprot_id": "FEZF1_HUMAN", "mass": { "chemical_mass": 52038.0, "monoisotopic_mass": 52038.0 }, "refseq": { "ac": "NP_001019784", "name": "fez family zinc finger protein 1 isoform 1", "summary": "This gene encodes a transcriptional repressor that belongs to the zinc finger double domain protein family. The encoded protein is thought to play a role in the embryonic migration of gonadotropin-releasing hormone neurons into the brain. Mutations in this gene are associated with hypogonadotropic hypogonadism-22 with anosmia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001019784" }, "gene_names": [ { "name": "FEZF1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/A0PJY2", "id": "A0PJY2" }, { "name": "FEZ; HH22; ZNF312B", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001019784", "id": "NP_001019784" }, { "name": "FEZF1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001019784", "id": "NP_001019784" }, { "name": "FEZ", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A0PJY2", "id": "A0PJY2" }, { "name": "ZNF312B", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A0PJY2", "id": "A0PJY2" } ], "protein_names": [ { "name": "Fez family zinc finger protein 1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/A0PJY2#names_and_taxonomy", "id": "A0PJY2" }, { "name": "Zinc finger protein 312B", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A0PJY2#names_and_taxonomy", "id": "A0PJY2" }, { "name": "fez family zinc finger protein 1 isoform 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001019784", "id": "NP_001019784" }, { "name": "zinc finger protein 312B; fez family zinc finger protein 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001019784", "id": "NP_001019784" } ], "function": [ { "annotation": "Circulatinglong non-coding RNA FEZF1-AS1 and AFAP1-AS1 serve as potential diagnostic biomarkers for gastric cancer.", "evidence": [ { "database": "RefSeq", "id": "NP_001019784", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001019784" }, { "database": "PubMed", "id": "31785996", "url": "https://glygen.org/publication/PubMed/31785996" } ] }, { "annotation": "Fezf1 and Fezf2 accomplish both independent and redundant functions across diverse tissue and cell types. [Review] Review article", "evidence": [ { "database": "RefSeq", "id": "NP_001019784", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001019784" }, { "database": "PubMed", "id": "24913420", "url": "https://glygen.org/publication/PubMed/24913420" } ] }, { "annotation": "LncRNA FEZF1-AS1 promotes colorectal cancer progression through regulating the miR-363-3p/PRRX1 pathway.", "evidence": [ { "database": "RefSeq", "id": "NP_001019784", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001019784" }, { "database": "PubMed", "id": "34286520", "url": "https://glygen.org/publication/PubMed/34286520" } ] }, { "annotation": "Long Non-coding RNA FEZF1-AS1 Promotes Growth and Reduces Apoptosis Through Regulation of miR-363-3p/PAX6 Axis in Retinoblastoma.", "evidence": [ { "database": "RefSeq", "id": "NP_001019784", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001019784" }, { "database": "PubMed", "id": "33432525", "url": "https://glygen.org/publication/PubMed/33432525" } ] }, { "annotation": "Mutations in FEZF1 cause Kallmann syndrome.", "evidence": [ { "database": "RefSeq", "id": "NP_001019784", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001019784" }, { "database": "PubMed", "id": "25192046", "url": "https://glygen.org/publication/PubMed/25192046" } ] }, { "annotation": "Observational study of gene-disease association. (HuGE Navigator)", "evidence": [ { "database": "RefSeq", "id": "NP_001019784", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001019784" }, { "database": "PubMed", "id": "19401682", "url": "https://glygen.org/publication/PubMed/19401682" } ] }, { "annotation": "Study is the first to report that ZNF312b, a novel transcription factor, was associated with tumorigenicity of gastric cancer. Erratum:[Cancer Res. 2009 May 1;69(9):4092]", "evidence": [ { "database": "RefSeq", "id": "NP_001019784", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001019784" }, { "database": "PubMed", "id": "19318583", "url": "https://glygen.org/publication/PubMed/19318583" } ] }, { "annotation": "The aberrant expression of ZNF312b promotes gastric tumorigenesis through epigenetic modification of its promoter region and provides a molecular mechanism for ZNF312b expression to contribute to the progression of gastric cancer.", "evidence": [ { "database": "RefSeq", "id": "NP_001019784", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001019784" }, { "database": "PubMed", "id": "21170990", "url": "https://glygen.org/publication/PubMed/21170990" } ] }, { "annotation": "This gene encodes a transcriptional repressor that belongs to the zinc finger double domain protein family. The encoded protein is thought to play a role in the embryonic migration of gonadotropin-releasing hormone neurons into the brain. Mutations in this gene are associated with hypogonadotropic hypogonadism-22 with anosmia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014].", "evidence": [ { "database": "RefSeq", "id": "NP_001019784", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001019784" } ] }, { "annotation": "Transcription repressor. Involved in the axonal projection and proper termination of olfactory sensory neurons (OSN). Plays a role in rostro-caudal patterning of the diencephalon and in prethalamic formation. Expression is required in OSN to cell-autonomously regulate OSN axon projections. Regulates non-cell-autonomously the layer formation of the olfactory bulb development and the interneurons. May be required for correct rostral migration of the interneuron progenitors (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "A0PJY2", "url": "https://www.uniprot.org/uniprot/A0PJY2#function" } ] } ], "disease": [ { "disease_id": "DOID:0090081", "recommended_name": { "id": "DOID:0090081", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0090081", "name": "hypogonadotropic hypogonadism 22 with or without anosmia", "description": "A hypogonadotropic hypogonadism that has_material_basis_in homozygous mutation in the FEZF1 gene on chromosome 7q31." }, "synonyms": [ { "id": "MONDO:0014461", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014461", "name": "hypogonadotropic hypogonadism 22 with or without anosmia", "description": "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FEZF1 gene." }, { "id": "MONDO:0014461", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014461", "name": "hypogonadotropic hypogonadism 22 with or without anosmia; HH22", "description": "" }, { "id": "MONDO:0014461", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014461", "name": "hypogonadotropic hypogonadism 22 with or without anosmia", "description": "" }, { "id": "MONDO:0014461", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014461", "name": "HH22", "description": "" }, { "id": "MONDO:0014461", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014461", "name": "FEZF1 hypogonadotropic hypogonadism", "description": "" }, { "id": "MONDO:0014461", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014461", "name": "hypogonadotropic hypogonadism caused by mutation in FEZF1", "description": "" }, { "id": "MIM:616030", "resource": "MIM", "url": "https://www.omim.org/entry/616030", "name": "Hypogonadotropic hypogonadism 22 with or without anosmia", "description": "Hypogonadotropic hypogonadism 22 with or without anosmia" } ], "evidence": [ { "id": "616030", "database": "MIM", "url": "https://www.omim.org/entry/616030" } ] } ], "snv": [ { "evidence": [ { "id": "A0PJY2", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0PJY2" } ], "glycoeffect": [], "start_pos": 227, "end_pos": 227, "subjects_tested": "93", "subjects_positive": "1", "frequency": "1.1", "sequence_org": "Q", "sequence_mut": "H", "comment": "Somatic mutation passed 1 out of 6 filters: patient freq. (1.1%). In dbSNP: rs1184831141.", "chr_id": "7", "chr_pos": "121943811", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "disease": [ { "disease_id": "DOID:2394", "recommended_name": { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "ovarian cancer", "description": "A female reproductive organ cancer that is located_in the ovary." }, "synonyms": [ { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "malignant Ovarian tumor", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "malignant tumour of ovary", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "ovarian neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "ovary neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "primary ovarian cancer", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "tumor of the Ovary", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "OVCAS1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "OVCAS1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1; OVCAS1", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer", "description": "A primary or metastatic malignant neoplasm involving the ovary. 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"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; HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "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": "A0PJY2", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A0PJY2" } ], "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": "malignant tumor of body 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": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", 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"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": "malignant tumor of greater curve of 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": "Ca lesser curvature - 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 neoplasm of stomach", "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 neoplasm of the stomach", "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": "cancer of stomach", "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": "A0PJY2", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A0PJY2" } ], "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": "bladder cancer", "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 bladder neoplasm", "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 neoplasm of bladder", "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 urinary bladder neoplasm", "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": "urinary bladder malignant neoplasm", "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": "cancer of urinary bladder", "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": "malignant neoplasm of urinary 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": "tumor of the 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 urinary bladder tumor", "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": "malignant neoplasm, bladder", "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": "A0PJY2", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A0PJY2" } ], "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/A0PJY2" } ], "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": "LNCR1", "description": "" }, { "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 1; LNCR1", "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; LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "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: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; LNCR3", "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": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5; 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": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "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": "Nonsmall cell lung cancer", "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": "lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "A0PJY2", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A0PJY2" } ], "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": "familial breast carcinoma", "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": "hereditary breast cancer", "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": "breast cancer, familial Male", "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": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Thyroid gland cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "A0PJY2", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A0PJY2" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland 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 neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "No", "trend": "up", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "A0PJY2", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A0PJY2" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "A0PJY2", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A0PJY2" } ], "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": "ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "A0PJY2", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A0PJY2" } ], "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ] }, { "significant": "No", "trend": "up", "name": "Esophageal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "A0PJY2", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A0PJY2" } ], "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 abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Escc, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "gastric cardia adenocarcinoma, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Aerodigestive tract cancer, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Colorectal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:9256", "evidence": [ { "database": "BioXpress", "id": "A0PJY2", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A0PJY2" } ], "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0023113", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023113", "name": "familial colorectal cancer", "description": "Familial colon cancer is a cluster of colon cancer within a family. Most cases ofcolon cancer occur sporadically in people with little to no family history of the condition. Approximately 3-5% of colon cancer is considered 'hereditary' and is thought to be caused by an inherited predisposition tocolon cancer that is passed down through a family in an autosomal dominant or autosomal recessive manner. In some of these families, the underlying genetic cause is not known; however, many of these cases are caused by changes ( mutations ) in the APC , MYH , MLH1 , MSH2 , MSH6 , PMS2 , EPCAM , PTEN , STK11 , SMAD4 , BMPR1A , NTHL1 , POLE , and POLD1 genes (which are associated with hereditary cancer syndromes). An additional 10-30% of people diagnosed with colon cancer have a significant family history of the condition but have no identifiable mutation in a gene known to cause a hereditary predisposition to colon cancer. These clusters of colon cancer are likely due to a combination of gene(s) and other shared factors such as environment and lifestyle. High-risk cancer screening and other preventative measures such as prophylactic surgeries are typically recommended in people who have an increased risk for colon cancer based on their personal and/or family histories." }, { "id": "MONDO:0023113", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023113", "name": "hereditary colorectal cancer", "description": "" }, { "id": "MONDO:0023113", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023113", "name": "colorectal cancer, familial", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "A0PJY2", "url": "https://www.uniprot.org/uniprot/A0PJY2" } ], "common_name": "Human" } ], "gene": [ { "name": "FEZF1", "url": "https://www.uniprot.org/uniprot/A0PJY2", "locus": { "chromosome": "7", "start_pos": 122310691, "end_pos": 122301394, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000128610", "url": "https://www.ensembl.org/id/ENSG00000128610" } ] } } ], "crossref": [ { "id": "ENSG00000128610", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000128610", "database": "Bgee" }, { "id": "A0PJY2", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0PJY2", "database": "BioMuta" }, { "id": "FEZF1", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=FEZF1", "database": "GeneCards" }, { "id": "389549", "url": "https://www.ncbi.nlm.nih.gov/gene/389549", "database": "GeneID" }, { "id": "22788", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=22788", "database": "HGNC" }, { "id": "A0PJY2", "url": "https://www.ebi.ac.uk/intact/interactors/id:A0PJY2*", "database": "IntAct" }, { "id": "IPR013087", "url": "https://www.ebi.ac.uk/interpro/entry/IPR013087", "database": "InterPro" }, { "id": "IPR036236", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036236", "database": "InterPro" }, { "id": "hsa:389549", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:389549", "database": "KEGG Pathway" }, { "id": "613301", "url": "http://www.omim.org/entry/613301", "database": "MIM" }, { "id": "616030", "url": "http://www.omim.org/entry/616030", "database": "MIM" }, { "id": "NX_A0PJY2", "url": "https://www.nextprot.org/entry/NX_A0PJY2", "database": "neXtProt" }, { "id": "VNLHPMA", "url": "https://omabrowser.org/oma/group/VNLHPMA/", "database": "OMA" }, { "id": "1318335at2759", "url": "http://www.orthodb.org/?query=1318335at2759", "database": "OrthoDB" }, { "id": "PF00096", "url": "http://pfam.xfam.org/family/PF00096", "database": "Pfam" }, { "id": "A0PJY2", "url": "https://pharos.nih.gov/targets/A0PJY2", "database": "PHAROS" }, { "id": "PR_A0PJY2", "url": "http://purl.obolibrary.org/obo/PR_A0PJY2", "database": "PRO" }, { "id": "NP_001019784", "url": 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"MDSSCHNATTKMLATAPARGNMMSTSKPLAFSIERIMARTPEPKALPVPHFLQGALPKGEPKHSLHLNSSIPCMIPFVPVAYDTSPKAGVTGSEPRKASLEAPAAPAAVPSAPAFSCSDLLNCALSLKGDLARDALPLQQYKLVRPRVVNHSSFHAMGALCYLNRGDGPCHPAAGVNIHPVASYFLSSPLHPQPKTYLAERNKLVVPAVEKYPSGVAFKDLSQAQLQHYMKESAQLLSEKIAFKTSDFSRGSPNAKPKVFTCEVCGKVFNAHYNLTRHMPVHTGARPFVCKVCGKGFRQASTLCRHKIIHTQEKPHKCNQCGKAFNRSSTLNTHTRIHAGYKPFVCEFCGKGFHQKGNYKNHKLTHSGEKQFKCNICNKAFHQVYNLTFHMHTHNDKKPFTCPTCGKGFCRNFDLKKHVRKLHDSSLGLARTPAGEPGTEPPPPLPQQPPMTLPPLQPPLPTPGPLQPGLHQGHQ", "length": 475, "header": "sp|A0PJY2-1|FEZF1_HUMAN Isoform 1 of Fez family zinc finger protein 1 OS=Homo sapiens OX=9606 GN=FEZF1 PE=1 SV=1 CANONICAL=A0PJY2-1" }, "isoforms": [ { "isoform_ac": "A0PJY2-1", "url": "https://www.uniprot.org/uniprot/A0PJY2#A0PJY2-1", "sequence": { "sequence": "MDSSCHNATTKMLATAPARGNMMSTSKPLAFSIERIMARTPEPKALPVPHFLQGALPKGEPKHSLHLNSSIPCMIPFVPVAYDTSPKAGVTGSEPRKASLEAPAAPAAVPSAPAFSCSDLLNCALSLKGDLARDALPLQQYKLVRPRVVNHSSFHAMGALCYLNRGDGPCHPAAGVNIHPVASYFLSSPLHPQPKTYLAERNKLVVPAVEKYPSGVAFKDLSQAQLQHYMKESAQLLSEKIAFKTSDFSRGSPNAKPKVFTCEVCGKVFNAHYNLTRHMPVHTGARPFVCKVCGKGFRQASTLCRHKIIHTQEKPHKCNQCGKAFNRSSTLNTHTRIHAGYKPFVCEFCGKGFHQKGNYKNHKLTHSGEKQFKCNICNKAFHQVYNLTFHMHTHNDKKPFTCPTCGKGFCRNFDLKKHVRKLHDSSLGLARTPAGEPGTEPPPPLPQQPPMTLPPLQPPLPTPGPLQPGLHQGHQ", "length": 475, "header": "sp|A0PJY2-1|FEZF1_HUMAN Isoform 1 of Fez family zinc finger protein 1 OS=Homo sapiens OX=9606 GN=FEZF1 PE=1 SV=1 CANONICAL=A0PJY2-1" }, "locus": { "chromosome": "7", "start_pos": 122304437, "end_pos": 122302000, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000442488", "url": "https://www.ensembl.org/id/ENST00000442488" }, { "database": "Ensembl Peptide", "id": "ENSP00000411145", "url": "https://www.ensembl.org/id/ENSP00000411145" } ] } }, { "isoform_ac": "A0PJY2-2", "url": "https://www.uniprot.org/uniprot/A0PJY2#A0PJY2-2", "sequence": { "sequence": "MDSSCHNATTKMLATAPARGNMMSTSKPLAFSIERIMARTPEPKALPVPHFLQGALPKGEPKHSLHLNSSIPCMIPFVPVAYDTSPKAGVTGSEPRKASLEAPAAPAAVPSAPAFSCSDLLNCALSLKGDLARDALPLQQYKLPKTYLAERNKLVVPAVEKYPSGVAFKDLSQAQLQHYMKESAQLLSEKIAFKTSDFSRGSPNAKPKVFTCEVCGKVFNAHYNLTRHMPVHTGARPFVCKVCGKGFRQASTLCRHKIIHTQEKPHKCNQCGKAFNRSSTLNTHTRIHAGYKPFVCEFCGKGFHQKGNYKNHKLTHSGEKQFKCNICNKAFHQVYNLTFHMHTHNDKKPFTCPTCGKGFCRNFDLKKHVRKLHDSSLGLARTPAGEPGTEPPPPLPQQPPMTLPPLQPPLPTPGPLQPGLHQGHQ", "length": 425, "header": "sp|A0PJY2-2|FEZF1_HUMAN Isoform 2 of Fez family zinc finger protein 1 OS=Homo sapiens OX=9606 GN=FEZF1 PE=1 SV=1 CANONICAL=A0PJY2-1" }, "locus": { "chromosome": "7", "start_pos": 122304437, "end_pos": 122302000, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000427185", "url": "https://www.ensembl.org/id/ENST00000427185" }, { "database": "Ensembl Peptide", "id": "ENSP00000392727", "url": "https://www.ensembl.org/id/ENSP00000392727" } ] } }, { "isoform_ac": "A0PJY2-3", "url": "https://www.uniprot.org/uniprot/A0PJY2#A0PJY2-3", "sequence": { "sequence": "MDSSCHNATTKMLATAPARGNMMSTSKPLAFSIERIMARTPEPKALPVPHFLQGALPKGEPKHSLHLNSSIPCMIPFVPVAYDTSPKAGVTGSEPRKASLEAPAAPAAVPSAPAFSCSDLLNCALSLKGDLARDALPLQQYKLVRPRVVNHSSFHAMGALCYLNRGDGPCHPAAGVNIHPVASYFLSSPLHPQPKTYLAERNKLVVPAVEKYPSGVAFKDLSQAQLQHYMKESAQLLSEKIAFKTSDFSRGSPNAKPKVFTCEVFNAHYNLTRHMPVHTGARPFVCKVCGKGFRQASTLCRHKIIHTQEKPHKCNQCGKAFNRSSTLNTHTRIHAGYKPFVCEFCGKGFHQKGNYKNHKLTHSGEKQFKCNICNKAFHQVYNLTFHMHTHNDKKPFTCPTCGKGFCRNFDLKKHVRKLHDSSLGLARTPAGEPGTEPPPPLPQQPPMTLPPLQPPLPTPGPLQPGLHQGHQ", "length": 471, "header": "sp|A0PJY2-3|FEZF1_HUMAN Isoform 3 of Fez family zinc finger protein 1 OS=Homo sapiens OX=9606 GN=FEZF1 PE=1 SV=1 CANONICAL=A0PJY2-1" }, "locus": {} }, { "isoform_ac": "C9J0C5-1", "url": "https://www.uniprot.org/uniprot/A0PJY2#C9J0C5-1", "sequence": { "sequence": "MDSSCHNATTKMLATAPARGNMMSTSKPLAFSIER", "length": 35, "header": "tr|C9J0C5-1|FEZF1_HUMAN Computationally mapped isoform of Fez family zinc finger protein 1 OS=Homo sapiens OX=9606 GN=FEZF1 PE=1 SV=1 CANONICAL=A0PJY2-1" }, "locus": { "chromosome": "7", "start_pos": 122304437, "end_pos": 122304333, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000418046", "url": "https://www.ensembl.org/id/ENST00000418046" }, { "database": "Ensembl Peptide", "id": "ENSP00000406919", "url": "https://www.ensembl.org/id/ENSP00000406919" } ] } } ], "glycosylation": [], "phosphorylation": [], "glycation": [], "keywords": [], "publication": [ { "title": "Human ZNF312b promotes the progression of gastric cancer by transcriptional activation of the K-ras gene.", "journal": "Cancer Res.", "date": "2009", "authors": "Kim H.T., Kim J.M., Song I.S., Kim N.S., Yoo H.S., Jeong S.Y., Ha G.H., Kim C.H., Kim D.I., Oh N.S.", "evidence": [ { "database": "UniProtKB", "id": "A0PJY2", "url": "https://www.uniprot.org/uniprot/A0PJY2" }, { "database": "RefSeq", "id": "NP_001019784", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001019784" } ], "reference": [ { "type": "PubMed", "id": "19318583", "url": "https://glygen.org/publication/PubMed/19318583" } ] }, { "title": "High-density SNP association study and copy number variation analysis of the AUTS1 and AUTS5 loci implicate the IMMP2L-DOCK4 gene region in autism susceptibility.", "journal": "Molecular psychiatry", "date": "2010", "authors": "Maestrini E, Pagnamenta AT, Lamb JA, Bacchelli E, Sykes NH, Sousa I, Toma C, Barnby G, Butler H, Winchester L, Scerri TS, Minopoli F, Reichert J, Cai G, Buxbaum JD, Korvatska O, Schellenberg GD, Dawson G, de Bildt A, Minderaa RB, Mulder EJ, Morris AP, Bailey AJ, Monaco AP", "evidence": [ { "database": "RefSeq", "id": "NP_001019784", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001019784" } ], "reference": [ { "type": "PubMed", "id": "19401682", "url": "https://glygen.org/publication/PubMed/19401682" } ] }, { "title": "Human ZNF312b oncogene is regulated by Sp1 binding to its promoter region through DNA demethylation and histone acetylation in gastric cancer.", "journal": "International journal of cancer", "date": "2011", "authors": "Song IS, Ha GH, Kim JM, Jeong SY, Lee HC, Kim YS, Kim YJ, Kwon TK, Kim NS", "evidence": [ { "database": "RefSeq", "id": "NP_001019784", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001019784" } ], "reference": [ { "type": "PubMed", "id": "21170990", "url": "https://glygen.org/publication/PubMed/21170990" } ] }, { "title": "Fez family transcription factors: controlling neurogenesis and cell fate in the developing mammalian nervous system.", "journal": "BioEssays : news and reviews in molecular, cellular and developmental biology", "date": "2014", "authors": "Eckler MJ, Chen B", "evidence": [ { "database": "RefSeq", "id": "NP_001019784", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001019784" } ], "reference": [ { "type": "PubMed", "id": "24913420", "url": "https://glygen.org/publication/PubMed/24913420" } ] }, { "title": "Mutations in FEZF1 cause Kallmann syndrome.", "journal": "Am. J. Hum. Genet.", "date": "2014", "authors": "Topaloglu A.K., Kotan L.D., Yuksel B., Wray S., Bicakci Y.K., Cheng P.J., Demirel F., Esen I., Gurbuz F., Hutchins B.I., Mengen E., Ozkan Y., Stoner H.", "evidence": [ { "database": "UniProtKB", "id": "A0PJY2", "url": "https://www.uniprot.org/uniprot/A0PJY2" }, { "database": "RefSeq", "id": "NP_001019784", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001019784" } ], "reference": [ { "type": "PubMed", "id": "25192046", "url": "https://glygen.org/publication/PubMed/25192046" } ] }, { "title": "Circulatinglong non-coding RNA FEZF1-AS1 and AFAP1-AS1 serve as potential diagnostic biomarkers for gastric cancer.", "journal": "Pathology, research and practice", "date": "2020", "authors": "Liu W, Li Y, Zhang Y, Shen X, Su Z, Chen L, Cai W, Wang F, Ju S", "evidence": [ { "database": "RefSeq", "id": "NP_001019784", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001019784" } ], "reference": [ { "type": "PubMed", "id": "31785996", "url": "https://glygen.org/publication/PubMed/31785996" } ] }, { "title": "Long Non-coding RNA FEZF1-AS1 Promotes Growth and Reduces Apoptosis Through Regulation of miR-363-3p/PAX6 Axis in Retinoblastoma.", "journal": "Biochemical genetics", "date": "2021", "authors": "Liu X, Li X, Li J", "evidence": [ { "database": "RefSeq", "id": "NP_001019784", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001019784" } ], "reference": [ { "type": "PubMed", "id": "33432525", "url": "https://glygen.org/publication/PubMed/33432525" } ] }, { "title": "LncRNA FEZF1-AS1 promotes colorectal cancer progression through regulating the miR-363-3p/PRRX1 pathway.", "journal": "Advances in clinical and experimental medicine : official organ Wroclaw Medical University", "date": "2021", "authors": "Zhang T, Yu S, Zhao S", "evidence": [ { "database": "RefSeq", "id": "NP_001019784", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001019784" } ], "reference": [ { "type": "PubMed", "id": "34286520", "url": "https://glygen.org/publication/PubMed/34286520" } ] } ], "pathway": [ { "id": "hsa:389549", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:389549", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "D3ZPD6-1", "protein_name": "Similar to zinc finger protein 312 (Predicted)", "gene_name": "Fezf1", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MDSSCLNATTKMLATAPARGNVMSTSKPLAFSIERIMARTPEPKALPVPHFLQGAVPKGDPKHSLHLNSSIPCMIPFVPVAYDTNSKAGVNGSEPRKASLEVPAPPAVAPSAPAFSCSDLLNCALSLKGDLARDALPLQQYKLVRPRVVNHSSFHAMGALCYLNRGDGPCHPAAGVNIHPVASYFLSSPLHPQPKTYLAERNKLVVPAVEKLPSGVAFKDLSQAQLHNYMKESAQLLSEKIAFKTSDFSRGSPNAKPKVFTCEVCGKVFNAHYNLTRHMPVHTGARPFVCKVCGKGFRQASTLCRHKIIHTQEKPHKCNQCGKAFNRSSTLNTHTRIHAGYKPFVCEFCGKGFHQKGNYKNHKLTHSGEKQFKCNICNKAFHQVYNLTFHMHTHNDKKPFTCPTCGKGFCRNFDLKKHVRKLHDSSLGLTRTPTGEPGSDPPPQLQQPPPAPLPPLQPTLPPPGPLQSGLHQGHQ", "length": 475 }, "evidence": [ { "id": "19252", "url": "http://www.informatics.jax.org/homology/19252", "database": "MGI" }, { "id": "A0PJY2", "url": "https://omabrowser.org/oma/group/A0PJY2/", "database": "OMA" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q0VDQ9-1", "protein_name": "Fez family zinc finger protein 1", "gene_name": "Fezf1", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MDSSCLNATTKMLATAPARGNVMSTSKPLAFSIERIMARTPEPKALPVPHFLQGAVPKGDPKHSLHLNSSIPCMIPFVPVAYDTNSKAGVNGSEPRKASLEVPAPPAVAPSAPAFSCSDLLNCALSLKGDLARDALPLQQYKLVRPRVVNHSSFHAMGALCYLNRGDGPCHPAASVNIHPVASYFLSSPLHPQPKTYLAERNKLVVPAVEKLPSGVAFKDLSQAQLQHYMKESAQLLSEKIAFKTSDFSRGSPNAKPKVFTCEVCGKVFNAHYNLTRHMPVHTGARPFVCKVCGKGFRQASTLCRHKIIHTQEKPHKCNQCGKAFNRSSTLNTHTRIHAGYKPFVCEFCGKGFHQKGNYKNHKLTHSGEKQFKCNICNKAFHQVYNLTFHMHTHNDKKPFTCPTCGKGFCRNFDLKKHVRKLHDSSLGLTRTPTGEPSSDPPPQLQQPPPAPLPPLQPTLPPPGPLPSGLHQGHQ", "length": 475 }, "evidence": [ { "id": "19252", "url": "http://www.informatics.jax.org/homology/19252", "database": "MGI" }, { "id": "A0PJY2", "url": "https://omabrowser.org/oma/group/A0PJY2/", "database": "OMA" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 4, "go_terms": [ { "name": "DNA-binding transcription factor activity", "id": "GO:0003700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003700", "evidence": [ { "database": "UniProtKB", "id": "A0PJY2", "url": "https://www.uniprot.org/uniprot/A0PJY2" } ], "pmid": "21873635" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "A0PJY2", "url": "https://www.uniprot.org/uniprot/A0PJY2" } ], "pmid": "" }, { "name": "DNA-binding transcription repressor activity, RNA polymerase II-specific", "id": "GO:0001227", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001227", "evidence": [ { "database": "UniProtKB", "id": "A0PJY2", "url": "https://www.uniprot.org/uniprot/A0PJY2" } ], "pmid": "" }, { "name": "RNA polymerase II cis-regulatory region sequence-specific DNA binding", "id": "GO:0000978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000978", "evidence": [ { "database": "UniProtKB", "id": "A0PJY2", "url": "https://www.uniprot.org/uniprot/A0PJY2" } ], "pmid": "21873635" } ] }, { "name": "Cellular Component", "total": 2, "go_terms": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "A0PJY2", "url": "https://www.uniprot.org/uniprot/A0PJY2" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "A0PJY2", "url": "https://www.uniprot.org/uniprot/A0PJY2" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 10, "go_terms": [ { "name": "regulation of transcription by RNA polymerase II", "id": "GO:0006357", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006357", "evidence": [ { "database": "UniProtKB", "id": "A0PJY2", "url": "https://www.uniprot.org/uniprot/A0PJY2" } ], "pmid": "21873635" }, { "name": "negative regulation of cell population proliferation", "id": "GO:0008285", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008285", "evidence": [ { "database": "UniProtKB", "id": "A0PJY2", "url": "https://www.uniprot.org/uniprot/A0PJY2" } ], "pmid": "" }, { "name": "positive regulation of neuron differentiation", "id": "GO:0045666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045666", "evidence": [ { "database": "UniProtKB", "id": "A0PJY2", "url": "https://www.uniprot.org/uniprot/A0PJY2" } ], "pmid": "" }, { "name": "neuron migration", "id": "GO:0001764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001764", "evidence": [ { "database": "UniProtKB", "id": "A0PJY2", "url": "https://www.uniprot.org/uniprot/A0PJY2" } ], "pmid": "" }, { "name": "positive regulation of transcription, DNA-templated", "id": "GO:0045893", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045893", "evidence": [ { "database": "UniProtKB", "id": "A0PJY2", "url": "https://www.uniprot.org/uniprot/A0PJY2" } ], "pmid": "" }, { "name": "axon guidance", "id": "GO:0007411", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007411", "evidence": [ { "database": "UniProtKB", "id": "A0PJY2", "url": "https://www.uniprot.org/uniprot/A0PJY2" } ], "pmid": "" }, { "name": "regulation of neurogenesis", "id": "GO:0050767", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050767", "evidence": [ { "database": "UniProtKB", "id": "A0PJY2", "url": "https://www.uniprot.org/uniprot/A0PJY2" } ], "pmid": "" }, { "name": "cell dedifferentiation", "id": "GO:0043697", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043697", "evidence": [ { "database": "UniProtKB", "id": "A0PJY2", "url": "https://www.uniprot.org/uniprot/A0PJY2" } ], "pmid": "" }, { "name": "forebrain anterior/posterior pattern specification", "id": "GO:0021797", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021797", "evidence": [ { "database": "UniProtKB", "id": "A0PJY2", "url": "https://www.uniprot.org/uniprot/A0PJY2" } ], "pmid": "" }, { "name": "olfactory bulb development", "id": "GO:0021772", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021772", "evidence": [ { "database": "UniProtKB", "id": "A0PJY2", "url": "https://www.uniprot.org/uniprot/A0PJY2" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 150, "end_pos": 152, "annotation": "n_glycosylation_sequon" }, { "start_pos": 274, "end_pos": 276, "annotation": "n_glycosylation_sequon" }, { "start_pos": 326, "end_pos": 328, "annotation": "n_glycosylation_sequon" }, { "start_pos": 386, "end_pos": 388, "annotation": "n_glycosylation_sequon" }, { "start_pos": 68, "end_pos": 70, "annotation": "n_glycosylation_sequon" }, { "start_pos": 7, "end_pos": 9, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ] }