{ "uniprot_canonical_ac": "Q8IXH7-1", "uniprot_ac": "Q8IXH7", "uniprot_id": "NELFD_HUMAN", "mass": { "chemical_mass": 66247.0, "monoisotopic_mass": 66247.0 }, "refseq": { "ac": "NP_945327", "name": "negative elongation factor C/D", "summary": "The NELF complex of proteins interacts with the DSIF protein complex to repress transcriptional elongation by RNA polymerase II. The protein encoded by this gene is an essential part of the NELF complex. Alternative translation initiation site usage results in the formation of two isoforms with different N-termini. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_945327" }, "gene_names": [ { "name": "NELFCD", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/Q8IXH7", "id": "Q8IXH7" }, { "name": "HSPC130; NELF-C; NELF-D; TH1; TH1L", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_945327", "id": "NP_945327" }, { "name": "HSPC130", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q8IXH7", "id": "Q8IXH7" }, { "name": "NELFCD", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_945327", "id": "NP_945327" }, { "name": "NELFD", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q8IXH7", "id": "Q8IXH7" }, { "name": "TH1L", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q8IXH7", "id": "Q8IXH7" }, { "name": "TH1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q8IXH7", "id": "Q8IXH7" }, { "name": "hCG_28547", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q8IXH7", "id": "Q8IXH7" } ], "protein_names": [ { "name": "Negative elongation factor C/D", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "Q8IXH7" }, { "name": "NELF-C/D", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q8IXH7" }, { "name": "TH1 drosophila homolog; trihydrophobin 1; negative elongation factor proteins C and D; NELF-C/D; TH1-like protein", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_945327", "id": "NP_945327" }, { "name": "TH1-like protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q8IXH7" }, { "name": "negative elongation factor C/D", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_945327", "id": "NP_945327" } ], "function": [ { "annotation": "(Microbial infection) The NELF complex is involved in HIV-1 latency possibly involving recruitment of PCF11 to paused RNA polymerase II.", "evidence": [ { "database": "UniProtKB", "id": "Q8IXH7", "url": "https://www.uniprot.org/uniprot/Q8IXH7#function" }, { "database": "PubMed", "id": "23884411", "url": "https://glygen.org/publication/PubMed/23884411" } ] }, { "annotation": "Essential component of the NELF complex, a complex that negatively regulates the elongation of transcription by RNA polymerase II (PubMed:12612062). The NELF complex, which acts via an association with the DSIF complex and causes transcriptional pausing, is counteracted by the P-TEFb kinase complex (PubMed:10199401).", "evidence": [ { "database": "UniProtKB", "id": "Q8IXH7", "url": "https://www.uniprot.org/uniprot/Q8IXH7#function" }, { "database": "PubMed", "id": "12612062", "url": "https://glygen.org/publication/PubMed/12612062" }, { "database": "PubMed", "id": "10199401", "url": "https://glygen.org/publication/PubMed/10199401" } ] }, { "annotation": "In a two-hybrid screen of human fetal liver cDNA library, TH1 was detected as a new interaction partner of A-Raf; this specific interaction may have played a critical role in the activation of A-Raf.", "evidence": [ { "database": "RefSeq", "id": "NP_945327", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_945327" }, { "database": "PubMed", "id": "11952167", "url": "https://glygen.org/publication/PubMed/11952167" } ] }, { "annotation": "NELFCD polymorphisms are associated with jaundice-stage progression in primary biliary cholangitis. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_945327", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_945327" }, { "database": "PubMed", "id": "29795304", "url": "https://glygen.org/publication/PubMed/29795304" } ] }, { "annotation": "Structural basis of the human negative elongation factor NELF-B/C/E ternary complex.", "evidence": [ { "database": "RefSeq", "id": "NP_945327", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_945327" }, { "database": "PubMed", "id": "37591184", "url": "https://glygen.org/publication/PubMed/37591184" } ] }, { "annotation": "The NELF complex of proteins interacts with the DSIF protein complex to repress transcriptional elongation by RNA polymerase II. The protein encoded by this gene is an essential part of the NELF complex. Alternative translation initiation site usage results in the formation of two isoforms with different N-termini. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_945327", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_945327" } ] } ], "disease": [], "snv": [], "mutagenesis": [ { "start_pos": 291, "end_pos": 291, "sequence_org": "R", "sequence_mut": "Q", "comment": "Reduces RNA binding; when associated with M-315, M-371, M-372, M-374, M-384, M-388, Q-419 and Q-506.", "evidence": [ { "database": "UniProtKB", "id": "Q8IXH7", "url": "https://www.uniprot.org/uniprot/Q8IXH7" }, { "database": "PubMed", "id": "27282391", "url": "https://glygen.org/publication/PubMed/27282391" } ] }, { "start_pos": 315, "end_pos": 315, "sequence_org": "K", "sequence_mut": "M", "comment": "Reduces RNA binding; when associated with Q-291, M-371, M-372, M-374, M-384, M-388, Q-419 and Q-506.", "evidence": [ { "database": "UniProtKB", "id": "Q8IXH7", "url": "https://www.uniprot.org/uniprot/Q8IXH7" }, { "database": "PubMed", "id": "27282391", "url": "https://glygen.org/publication/PubMed/27282391" } ] }, { "start_pos": 371, "end_pos": 371, "sequence_org": "K", "sequence_mut": "M", "comment": "Reduces RNA binding; when associated with Q-291, M-315, M-372, M-374, M-384, M-388, Q-419 and Q-506.", "evidence": [ { "database": "UniProtKB", "id": "Q8IXH7", "url": "https://www.uniprot.org/uniprot/Q8IXH7" }, { "database": "PubMed", "id": "27282391", "url": "https://glygen.org/publication/PubMed/27282391" } ] }, { "start_pos": 372, "end_pos": 372, "sequence_org": "K", "sequence_mut": "M", "comment": "Reduces RNA binding; when associated with Q-291, M-315, M-371, M-374, M-384, M-388, Q-419 and Q-506.", "evidence": [ { "database": "UniProtKB", "id": "Q8IXH7", "url": "https://www.uniprot.org/uniprot/Q8IXH7" }, { "database": "PubMed", "id": "27282391", "url": "https://glygen.org/publication/PubMed/27282391" } ] }, { "start_pos": 374, "end_pos": 374, "sequence_org": "K", "sequence_mut": "M", "comment": "Reduces RNA binding; when associated with Q-291, M-315, M-371, M-372, M-384, M-388, Q-419 and Q-506.", "evidence": [ { "database": "UniProtKB", "id": "Q8IXH7", "url": "https://www.uniprot.org/uniprot/Q8IXH7" }, { "database": "PubMed", "id": "27282391", "url": "https://glygen.org/publication/PubMed/27282391" } ] }, { "start_pos": 384, "end_pos": 384, "sequence_org": "K", "sequence_mut": "M", "comment": "Reduces RNA binding; when associated with Q-291, M-315, M-371, M-372, M-374, M-388, Q-419 and Q-506.", "evidence": [ { "database": "UniProtKB", "id": "Q8IXH7", "url": "https://www.uniprot.org/uniprot/Q8IXH7" }, { "database": "PubMed", "id": "27282391", "url": "https://glygen.org/publication/PubMed/27282391" } ] }, { "start_pos": 388, "end_pos": 388, "sequence_org": "K", "sequence_mut": "M", "comment": "Reduces RNA binding; when associated with Q-291, M-315, M-371, M-372, M-374, M-384, Q-419 and Q-506.", "evidence": [ { "database": "UniProtKB", "id": "Q8IXH7", "url": "https://www.uniprot.org/uniprot/Q8IXH7" }, { "database": "PubMed", "id": "27282391", "url": "https://glygen.org/publication/PubMed/27282391" } ] }, { "start_pos": 419, "end_pos": 419, "sequence_org": "R", "sequence_mut": "Q", "comment": "Reduces RNA binding; when associated with Q-291, M-315, M-371, M-372, M-374, M-384, M-388 and Q-506.", "evidence": [ { "database": "UniProtKB", "id": "Q8IXH7", "url": "https://www.uniprot.org/uniprot/Q8IXH7" }, { "database": "PubMed", "id": "27282391", "url": "https://glygen.org/publication/PubMed/27282391" } ] }, { "start_pos": 506, "end_pos": 506, "sequence_org": "R", "sequence_mut": "Q", "comment": "Reduces RNA binding; when associated with Q-291, M-315, M-371, M-372, M-374, M-384, M-388 and Q-419.", "evidence": [ { "database": "UniProtKB", "id": "Q8IXH7", "url": "https://www.uniprot.org/uniprot/Q8IXH7" }, { "database": "PubMed", "id": "27282391", "url": "https://glygen.org/publication/PubMed/27282391" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "93.65", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000101158", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000101158" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "90.77", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000101158", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000101158" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "89.88", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000101158", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000101158" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "83.4", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000101158", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000101158" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "95.31", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000101158", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000101158" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "94.45", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000101158", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000101158" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "89.82", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000101158", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000101158" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "94.08", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000101158", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000101158" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "96.79", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000101158", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000101158" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "85.22", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000101158", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000101158" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "92.34", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000101158", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000101158" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "95.48", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000101158", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000101158" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "95.98", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000101158", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000101158" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "Q8IXH7", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q8IXH7" } ], "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, 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"https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", 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"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": "Q8IXH7", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q8IXH7" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": 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results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": 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"https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the 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"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": "Q8IXH7", "url": 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"" }, { "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": 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"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": "Yes", "trend": "up", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "Q8IXH7", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q8IXH7" } ], "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": "Q8IXH7", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q8IXH7" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "Q8IXH7", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q8IXH7" } ], "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": "Q8IXH7", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q8IXH7" } ], "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", 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q8IXH7" } ], "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": "up", "name": "Esophageal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "Q8IXH7", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q8IXH7" } ], "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 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"R-HSA-167290", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-167290", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-674695", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-674695", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-6796648", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6796648", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-75955", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-75955", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_945327", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_945327", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "H0UI80", "url": "https://www.uniprot.org/uniprot/H0UI80", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0UI80-1", "url": "https://www.uniprot.org/uniprot/H0UI80-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q8IXH7", "url": "https://www.uniprot.org/uniprot/Q8IXH7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q8IXH7-1", "url": "https://www.uniprot.org/uniprot/Q8IXH7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q8IXH7-3", "url": "https://www.uniprot.org/uniprot/Q8IXH7-3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q8IXH7-4", "url": "https://www.uniprot.org/uniprot/Q8IXH7-4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "X6RLT1", "url": "https://www.uniprot.org/uniprot/X6RLT1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "X6RLT1-1", "url": "https://www.uniprot.org/uniprot/X6RLT1-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MAGAVPGAIMDEDYYGSAAEWGDEADGGQQEDDSGEGEDDAEVQQECLHKFSTRDYIMEPSIFNTLKRYFQAGGSPENVIQLLSENYTAVAQTVNLLAEWLIQTGVEPVQVQETVENHLKSLLIKHFDPRKADSIFTEEGETPAWLEQMIAHTTWRDLFYKLAEAHPDCLMLNFTVKLISDAGYQGEITSVSTACQQLEVFSRVLRTSLATILDGGEENLEKNLPEFAKMVCHGEHTYLFAQAMMSVLAQEEQGGSAVRRIAQEVQRFAQEKGHDASQITLALGTAASYPRACQALGAMLSKGALNPADITVLFKMFTSMDPPPVELIRVPAFLDLFMQSLFKPGARINQDHKHKYIHILAYAASVVETWKKNKRVSINKDELKSTSKAVETVHNLCCNENKGASELVAELSTLYQCIRFPVVAMGVLKWVDWTVSEPRYFQLQTDHTPVHLALLDEISTCHQLLHPQVLQLLVKLFETEHSQLDVMEQLELKKTLLDRMVHLLSRGYVLPVVSYIRKCLEKLDTDISLIRYFVTEVLDVIAPPYTSDFVQLFLPILENDSIAGTIKTEGEHDPVTEFIAHCKSNFIMVN", "length": 590, "header": "sp|Q8IXH7-1|NELFD_HUMAN Isoform 1 of Negative elongation factor C/D OS=Homo sapiens OX=9606 GN=NELFCD PE=1 SV=2 CANONICAL=Q8IXH7-1" }, "isoforms": [ { "isoform_ac": "H0UI80-1", "url": "", "sequence": { "sequence": "MRRARSREGMAGAVPGAIMDEDYYGSAAEWGDEADGGQQEDDSGEGEDDAEVQQECLHKFSTRDYIMEPSIFNTLKRYFQAGGSPENVIQLLSENYTAVAQTVNLLAEWLIQTGVEPVQVQETVENHLKSLLIKHFDPRKADSIFTEEGETPAWLEQMIAHTTWRDLFYKLAEAHPDCLMLNFTVKLISDAGYQGEITSVSTACQQLEVFSRVLRTSLATILDGGEENLEKNLPEFAKMVCHGEHTYLFAQAMMSVLAQEEQGGSAVRRIAQEVQRFAQEKGHDASQITLALGTAASYPRACQALGAMLSKGALNPADITVLFKMFTSMDPPPVELIRVPAFLDLFMQSLFKPGARINQDHKHKYIHILAYAASVVETWKKNKRVSINKDELKSTSKAVETVHNLCCNENKGASELVAELSTLYQCIRFPVVAMGVLKWVDWTVSEPRYFQLQTDHTPVHLALLDEISTCHQLLHPQVLQLLVKLFETEHSQLDVMEQLELKKTLLDRMVHLLSRGYVLPVVSYIRKCLEKLDTDISLIRYFVTEVLDVIAPPYTSDFVQLFLPILENDSIAGTIKTEGEHDPVTEFIAHCKSNFIMVN", "length": 599, "header": "tr|H0UI80-1|NELFD_HUMAN Computationally mapped isoform of Negative elongation factor C/D OS=Homo sapiens OX=9606 GN=NELFCD PE=1 SV=1 CANONICAL=Q8IXH7-1" }, "locus": { "chromosome": "20", "start_pos": 58994673, "end_pos": 58981256, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000602795.6", "url": "https://www.ensembl.org/id/ENST00000602795.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000473290.1", "url": "https://www.ensembl.org/id/ENSP00000473290.1" } ] } }, { "isoform_ac": "Q8IXH7-1", "url": "", "sequence": { "sequence": "MAGAVPGAIMDEDYYGSAAEWGDEADGGQQEDDSGEGEDDAEVQQECLHKFSTRDYIMEPSIFNTLKRYFQAGGSPENVIQLLSENYTAVAQTVNLLAEWLIQTGVEPVQVQETVENHLKSLLIKHFDPRKADSIFTEEGETPAWLEQMIAHTTWRDLFYKLAEAHPDCLMLNFTVKLISDAGYQGEITSVSTACQQLEVFSRVLRTSLATILDGGEENLEKNLPEFAKMVCHGEHTYLFAQAMMSVLAQEEQGGSAVRRIAQEVQRFAQEKGHDASQITLALGTAASYPRACQALGAMLSKGALNPADITVLFKMFTSMDPPPVELIRVPAFLDLFMQSLFKPGARINQDHKHKYIHILAYAASVVETWKKNKRVSINKDELKSTSKAVETVHNLCCNENKGASELVAELSTLYQCIRFPVVAMGVLKWVDWTVSEPRYFQLQTDHTPVHLALLDEISTCHQLLHPQVLQLLVKLFETEHSQLDVMEQLELKKTLLDRMVHLLSRGYVLPVVSYIRKCLEKLDTDISLIRYFVTEVLDVIAPPYTSDFVQLFLPILENDSIAGTIKTEGEHDPVTEFIAHCKSNFIMVN", "length": 590, "header": "sp|Q8IXH7-1|NELFD_HUMAN Isoform 1 of Negative elongation factor C/D OS=Homo sapiens OX=9606 GN=NELFCD PE=1 SV=2 CANONICAL=Q8IXH7-1" }, "locus": {} }, { "isoform_ac": "Q8IXH7-3", "url": "", "sequence": { "sequence": "MAGAVPGAIMDEDYYGSAAEWGDEADGGQQEDDSGEGEDDAEVQQECLHKFSTRDYIMEPSIFNTLKRYFQAGGSPENVIQLLSENYTAVAQTVNLLAEWLIQTGVEPVQVQETVENHLKSLLIKHFDPRKADSIFTEEGETPAWLEQMIAHTTWRDLFYKLAEAHPDCLMLNFTVKVGRVLELRRKVFMNVYFWLLVCFL", "length": 201, "header": "sp|Q8IXH7-3|NELFD_HUMAN Isoform 3 of Negative elongation factor C/D OS=Homo sapiens OX=9606 GN=NELFCD PE=1 SV=2 CANONICAL=Q8IXH7-1" }, "locus": {} }, { "isoform_ac": "Q8IXH7-4", "url": "", "sequence": { "sequence": "MDEDYYGSAAEWGDEADGGQQEDDSGEGEDDAEVQQECLHKFSTRDYIMEPSIFNTLKRYFQAGGSPENVIQLLSENYTAVAQTVNLLAEWLIQTGVEPVQVQETVENHLKSLLIKHFDPRKADSIFTEEGETPAWLEQMIAHTTWRDLFYKLAEAHPDCLMLNFTVKLISDAGYQGEITSVSTACQQLEVFSRVLRTSLATILDGGEENLEKNLPEFAKMVCHGEHTYLFAQAMMSVLAQEEQGGSAVRRIAQEVQRFAQEKGHDASQITLALGTAASYPRACQALGAMLSKGALNPADITVLFKMFTSMDPPPVELIRVPAFLDLFMQSLFKPGARINQDHKHKYIHILAYAASVVETWKKNKRVSINKDELKSTSKAVETVHNLCCNENKGASELVAELSTLYQCIRFPVVAMGVLKWVDWTVSEPRYFQLQTDHTPVHLALLDEISTCHQLLHPQVLQLLVKLFETEHSQLDVMEQLELKKTLLDRMVHLLSRGYVLPVVSYIRKCLEKLDTDISLIRYFVTEVLDVIAPPYTSDFVQLFLPILENDSIAGTIKTEGEHDPVTEFIAHCKSNFIMVN", "length": 581, "header": "sp|Q8IXH7-4|NELFD_HUMAN Isoform 4 of Negative elongation factor C/D OS=Homo sapiens OX=9606 GN=NELFCD PE=1 SV=2 CANONICAL=Q8IXH7-1" }, "locus": { "chromosome": "20", "start_pos": 58994673, "end_pos": 58981310, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000652272.2", "url": "https://www.ensembl.org/id/ENST00000652272.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000499018.1", "url": "https://www.ensembl.org/id/ENSP00000499018.1" } ] } }, { "isoform_ac": "X6RLT1-1", "url": "", "sequence": { "sequence": "XEGMAGAVPGAIMDEDYYGSAAEWGDEADGGQQEDDSGEGEDDAEVQQECLHKFSTRDYIMEPSIFNTLKRYFQAGGSPENVIQLLSENYTAVAQTVNLLAEWLIQTGVEPVQVQETVENHLKSLLIKHFDPRKADSIFTEEGETPAWLEQMIAHTTWRDLFYKLAEAHPDCLMLNFTVKLISDAGYQGEITSVSTACQQLEVFSRVLRTSLATILDGGEENLEKNLPEFAKMVCHGEHTYLFAQAMMSVLAQEEQGGSAVRRIAQEVQRFAQEKGHDASQITLALGTAASYPRACQALGAMLSKGALNPADITVLFKMFTSMDPPPVELIRVPAFLDLFMQSLFKPGARINQDHKHKYIHILAYAASVVETWKKNKRVSINKDELKSTSKAVETVHNLCCNENKGASELVAELSTLYQCIRFPVVAMGVLKWVDWTVSEPRYFQLQTDHTPVHLALLDEISTCHQLLHPQVLQLLVKLFETEHSQLDVMEQLELKKTLLDRMVHLLSRGYVLPVVSYIRKCLEKLDTDISLIRYFVTEVLDVIAPPYTSDFVQLFLPILENDSIAGTIKTEGEHDPVTEFIAHCKSNFIMVN", "length": 593, "header": "tr|X6RLT1-1|X6RLT1_HUMAN Computationally mapped isoform of Negative elongation factor complex member C/D OS=Homo sapiens OX=9606 GN=NELFCD PE=1 SV=1 CANONICAL=Q8IXH7-1" }, "locus": { "chromosome": "20", "start_pos": 58994674, "end_pos": 58981275, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000460601.5", "url": "https://www.ensembl.org/id/ENST00000460601.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000436783.2", "url": "https://www.ensembl.org/id/ENSP00000436783.2" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "Q8IXH7", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IXH7" }, { "id": "28510447", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28510447" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "NELF, a multisubunit complex containing RD, cooperates with DSIF to repress RNA polymerase II elongation.", "journal": "Cell", "date": "1999", "authors": "Yamaguchi Y, Takagi T, Wada T, Yano K, Furuya A, Sugimoto S, Hasegawa J, Handa H", "evidence": [ { "database": "UniProtKB", "id": "Q8IXH7", "url": "https://www.uniprot.org/uniprot/Q8IXH7" }, { "database": "Reactome", "id": "R-HSA-674695", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-674695" } ], "reference": [ { "type": "PubMed", "id": "10199401", "url": "https://glygen.org/publication/PubMed/10199401" } ] }, { "title": "Domains in the SPT5 protein that modulate its transcriptional regulatory properties.", "journal": "Molecular and cellular biology", "date": "2000", "authors": "Ivanov D, Kwak YT, Guo J, Gaynor RB", "evidence": [ { "database": "Reactome", "id": "R-HSA-167158", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-167158" } ], "reference": [ { "type": "PubMed", "id": "10757782", "url": "https://glygen.org/publication/PubMed/10757782" } ] }, { "title": "Tat modifies the activity of CDK9 to phosphorylate serine 5 of the RNA polymerase II carboxyl-terminal domain during human immunodeficiency virus type 1 transcription.", "journal": "Molecular and cellular biology", "date": "2000", "authors": "Zhou M, Halanski MA, Radonovich MF, Kashanchi F, Peng J, Price DH, Brady JN", "evidence": [ { "database": "Reactome", "id": "R-HSA-167152", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-167152" } ], "reference": [ { "type": "PubMed", "id": "10866664", "url": "https://glygen.org/publication/PubMed/10866664" } ] }, { "title": "Control of elongation by RNA polymerase II.", "journal": "Trends in biochemical sciences", "date": "2000", "authors": "Conaway JW, Shilatifard A, Dvir A, Conaway RC", "evidence": [ { "database": "Reactome", "id": "R-HSA-167158", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-167158" } ], "reference": [ { "type": "PubMed", "id": "10916156", "url": "https://glygen.org/publication/PubMed/10916156" } ] }, { "title": "p53 and c-Jun functionally synergize in the regulation of the DNA repair gene hMSH2 in response to UV.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Scherer SJ, Maier SM, Seifert M, Hanselmann RG, Zang KD, Muller-Hermelink HK, Angel P, Welter C, Schartl M", "evidence": [ { "database": "Reactome", "id": "R-HSA-6796648", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6796648" } ], "reference": [ { "type": "PubMed", "id": "10984493", "url": "https://glygen.org/publication/PubMed/10984493" } ] }, { "title": "Characterization of TH1 and CTSZ, two non-imprinted genes downstream of GNAS1 in chromosome 20q13.", "journal": "Hum. Genet.", "date": "2000", "authors": "Bonthron DT, Hayward BE, Moran V, Strain L", "evidence": [ { "database": "UniProtKB", "id": "Q8IXH7", "url": "https://www.uniprot.org/uniprot/Q8IXH7" } ], "reference": [ { "type": "PubMed", "id": "11030415", "url": "https://glygen.org/publication/PubMed/11030415" } ] }, { "title": "Structural basis of transcription: RNA polymerase II at 2.8 angstrom resolution.", "journal": "Science (New York, N.Y.)", "date": "2001", "authors": "Cramer P, Bushnell DA, Kornberg RD", "evidence": [ { "database": "Reactome", "id": "R-HSA-75955", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-75955" } ], "reference": [ { "type": "PubMed", "id": "11313498", "url": "https://glygen.org/publication/PubMed/11313498" } ] }, { "title": "Structural basis of transcription: an RNA polymerase II elongation complex at 3.3 A resolution.", "journal": "Science (New York, N.Y.)", "date": "2001", "authors": "Gnatt AL, Cramer P, Fu J, Bushnell DA, Kornberg RD", "evidence": [ { "database": "Reactome", "id": "R-HSA-75955", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-75955" } ], "reference": [ { "type": "PubMed", "id": "11313499", "url": "https://glygen.org/publication/PubMed/11313499" } ] }, { "title": "Identification of a p53 response element in the promoter region of the hMSH2 gene required for expression in A2780 ovarian cancer cells.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Warnick CT, Dabbas B, Ford CD, Strait KA", "evidence": [ { "database": "Reactome", "id": "R-HSA-6796648", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6796648" } ], "reference": [ { "type": "PubMed", "id": "11350971", "url": "https://glygen.org/publication/PubMed/11350971" } ] }, { "title": "A Rad26-Def1 complex coordinates repair and RNA pol II proteolysis in response to DNA damage.", "journal": "Nature", "date": "2002", "authors": "Woudstra EC, Gilbert C, Fellows J, Jansen L, Brouwer J, Erdjument-Bromage H, Tempst P, Svejstrup JQ", "evidence": [ { "database": "Reactome", "id": "R-HSA-674695", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-674695" } ], "reference": [ { "type": "PubMed", "id": "11859374", "url": "https://glygen.org/publication/PubMed/11859374" } ] }, { "title": "P-TEFb containing cyclin K and Cdk9 can activate transcription via RNA.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Lin X, Taube R, Fujinaga K, Peterlin BM", "evidence": [ { "database": "Reactome", "id": "R-HSA-674695", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-674695" } ], "reference": [ { "type": "PubMed", "id": "11884399", "url": "https://glygen.org/publication/PubMed/11884399" } ] }, { "title": "Identification of TH1 as an interaction partner of A-Raf kinase.", "journal": "Mol. Cell. Biochem.", "date": "2002", "authors": "Yin XL, Chen S, Gu JX", "evidence": [ { "database": "UniProtKB", "id": "Q8IXH7", "url": "https://www.uniprot.org/uniprot/Q8IXH7" }, { "database": "RefSeq", "id": "NP_945327", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_945327" } ], "reference": [ { "type": "PubMed", "id": "11952167", "url": "https://glygen.org/publication/PubMed/11952167" } ] }, { "title": "p53 Binds and activates the xeroderma pigmentosum DDB2 gene in humans but not mice.", "journal": "Molecular and cellular biology", "date": "2002", "authors": "Tan T, Chu G", "evidence": [ { "database": "Reactome", "id": "R-HSA-6796648", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6796648" } ], "reference": [ { "type": "PubMed", "id": "11971958", "url": "https://glygen.org/publication/PubMed/11971958" } ] }, { "title": "Cyclin K as a direct transcriptional target of the p53 tumor suppressor.", "journal": "Neoplasia (New York, N.Y.)", "date": "2002", "authors": "Mori T, Anazawa Y, Matsui K, Fukuda S, Nakamura Y, Arakawa H", "evidence": [ { "database": "Reactome", "id": "R-HSA-6796648", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6796648" } ], "reference": [ { "type": "PubMed", "id": "11988847", "url": "https://glygen.org/publication/PubMed/11988847" } ] }, { "title": "FCP1, a phosphatase specific for the heptapeptide repeat of the largest subunit of RNA polymerase II, stimulates transcription elongation.", "journal": "Molecular and cellular biology", "date": "2002", "authors": "Mandal SS, Cho H, Kim S, Cabane K, Reinberg D", "evidence": [ { "database": "Reactome", "id": "R-HSA-113418", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-113418" } ], "reference": [ { "type": "PubMed", "id": "12370301", "url": "https://glygen.org/publication/PubMed/12370301" } ] }, { "title": "Human transcription elongation factor NELF: identification of novel subunits and reconstitution of the functionally active complex.", "journal": "Mol. 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"Q8IXH7", "url": "https://www.uniprot.org/uniprot/Q8IXH7" } ], "pmid": "" }, { "name": "negative regulation of transcription elongation by RNA polymerase II", "id": "GO:0034244", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034244", "evidence": [ { "database": "UniProtKB", "id": "Q8IXH7", "url": "https://www.uniprot.org/uniprot/Q8IXH7" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 1, "go_terms": [ { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "Q8IXH7", "url": "https://www.uniprot.org/uniprot/Q8IXH7" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 173, "end_pos": 175, "annotation": "n_glycosylation_sequon" }, { "start_pos": 559, "end_pos": 561, "annotation": "n_glycosylation_sequon" }, { "start_pos": 86, "end_pos": 88, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [], 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