{ "uniprot_canonical_ac": "O43345-1", "uniprot_ac": "O43345", "uniprot_id": "ZN208_HUMAN", "mass": { "chemical_mass": 147487.0, "monoisotopic_mass": 147487.0 }, "refseq": { "ac": "NP_009084", "name": "zinc finger protein 208 isoform 1", "summary": "Zinc finger proteins (ZNFs), such as ZNF208, bind DNA and, through this binding, regulate gene transcription. Most ZNFs contain conserved C2H2 motifs and are classified as Kruppel-type zinc fingers. A conserved protein motif, termed the Kruppel-associated box (KRAB) domain, mediates protein-protein interactions (Eichler et al., 1998 [PubMed 9724325]). See ZNF91 (MIM 603971) for further information on ZNFs.[supplied by OMIM, Aug 2009].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_009084" }, "gene_names": [ { "name": "ZNF208", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O43345", "id": "O43345" }, { "name": "PMIDP; ZNF95", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_009084", "id": "NP_009084" }, { "name": "ZNF208", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_009084", "id": "NP_009084" }, { "name": "ZNF91L", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O43345", "id": "O43345" } ], "protein_names": [ { "name": "Zinc finger protein 208", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O43345" }, { "name": "Zinc finger protein 91-like", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43345" }, { "name": "zinc finger protein 208 isoform 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_009084", "id": "NP_009084" }, { "name": "zinc finger protein 95", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_009084", "id": "NP_009084" } ], "function": [ { "annotation": "Data indicate that variants in ZNF208 are contribute to the susceptibility to esophageal cancer in a Chinese Han population.", "evidence": [ { "database": "RefSeq", "id": "NP_009084", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_009084" }, { "database": "PubMed", "id": "27907911", "url": "https://glygen.org/publication/PubMed/27907911" } ] }, { "annotation": "May be involved in transcriptional regulation.", "evidence": [ { "database": "UniProtKB", "id": "O43345", "url": "https://www.uniprot.org/uniprot/O43345#function" } ] }, { "annotation": "Three variants were associated with the risk of ischemic stroke under allele models (rs2188971, rs2188972, rs8103163 and rs7248488). The variant rs2188972 was also associated with the risk of ischemic stroke in a recessive model after adjustment for age and sex", "evidence": [ { "database": "RefSeq", "id": "NP_009084", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_009084" }, { "database": "PubMed", "id": "27936511", "url": "https://glygen.org/publication/PubMed/27936511" } ] }, { "annotation": "Zinc finger proteins (ZNFs), such as ZNF208, bind DNA and, through this binding, regulate gene transcription. Most ZNFs contain conserved C2H2 motifs and are classified as Kruppel-type zinc fingers. A conserved protein motif, termed the Kruppel-associated box (KRAB) domain, mediates protein-protein interactions (Eichler et al., 1998 [PubMed 9724325]). See ZNF91 (MIM 603971) for further information on ZNFs.[supplied by OMIM, Aug 2009].", "evidence": [ { "database": "RefSeq", "id": "NP_009084", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_009084" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs1223025063", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1223025063" }, { "id": "rs1223025063", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1223025063#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1017, "end_pos": 1017, "sequence_org": "M", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NLM->NLT).", "chr_id": "19", "chr_pos": "21971984", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M1017", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1409393289", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1409393289" }, { "id": "rs1409393289", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1409393289#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 1043, "end_pos": 1043, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SLT->NLT).", "chr_id": "19", "chr_pos": "21971906", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1043", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1487541686", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1487541686" }, { "id": "rs1487541686", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1487541686" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1101, "end_pos": 1101, "sequence_org": "M", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NLM->NLT).", "chr_id": "19", "chr_pos": "21971732", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M1101", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs762920895", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762920895" }, { "id": "rs762920895", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762920895" }, { "id": "rs762920895", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs762920895#frequency_tab" }, { "id": "rs762920895", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs762920895" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1127, "end_pos": 1127, "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (ILT->NLT).", "chr_id": "19", "chr_pos": "21971654", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I1127", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs879197552", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs879197552" }, { "id": "rs879197552", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs879197552#frequency_tab" }, { "id": "rs879197552", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs879197552" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 1151, "end_pos": 1151, "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (KWS->NWS).", "chr_id": "19", "chr_pos": "21971581", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K1151", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs776397803", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776397803" }, { "id": "rs776397803", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776397803" }, { "id": "rs776397803", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs776397803" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 1155, "end_pos": 1155, "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (TLS->NLS).", "chr_id": "19", "chr_pos": "21971570", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1155", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs771632109", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771632109" }, { "id": "rs771632109", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771632109" }, { "id": "rs771632109", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs771632109" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1164, "end_pos": 1164, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->A).", "chr_id": "19", "chr_pos": "21971544", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1164", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1336850574", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1336850574" }, { "id": "rs1336850574", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1336850574" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1164, "end_pos": 1164, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->I).", "chr_id": "19", "chr_pos": "21971543", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1164", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1432080953", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1432080953" }, { "id": "rs1432080953", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1432080953" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1182, "end_pos": 1182, "sequence_org": "S", "sequence_mut": "L", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->L).", "chr_id": "19", "chr_pos": "21971489", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1182", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O43345", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O43345" }, { "id": "rs1194204600", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1194204600" }, { "id": "rs1194204600", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1194204600" }, { "id": "rs1194204600", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1194204600#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 161, "end_pos": 161, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "N", "sequence_mut": "S", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (NSN->NSS).", "chr_id": "19", "chr_pos": "21974552", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "N161", "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": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs1187453732", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1187453732" }, { "id": "rs1187453732", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1187453732" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 215, "end_pos": 215, "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (TLT->NLT).", "chr_id": "19", "chr_pos": "21974390", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T215", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O43345", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O43345" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 287, "end_pos": 287, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "C", "sequence_mut": "S", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (NKC->NKS).", "chr_id": "19", "chr_pos": "21974175", "ref_nt": "A", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "C287", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs768196930", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768196930" }, { "id": "rs768196930", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768196930" }, { "id": "rs768196930", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs768196930" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 299, "end_pos": 299, "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (TLT->NLT).", "chr_id": "19", "chr_pos": "21974138", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T299", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs758631446", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758631446" }, { "id": "rs758631446", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758631446" }, { "id": "rs758631446", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs758631446" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 33, "end_pos": 33, "sequence_org": "M", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NVM->NVT).", "chr_id": "19", "chr_pos": "21987248", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M33", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs575701702", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs575701702" }, { "id": "rs575701702", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs575701702" }, { "id": "rs575701702", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs575701702#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 352, "end_pos": 352, "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (KFS->NFS).", "chr_id": "19", "chr_pos": "21973978", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "0.0002", "site_lbl": "K352", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1300937578", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1300937578" }, { "id": "rs1300937578", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1300937578" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 441, "end_pos": 441, "sequence_org": "M", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NLM->NLT).", "chr_id": "19", "chr_pos": "21973712", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M441", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs756217020", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756217020" }, { "id": "rs756217020", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756217020" }, { "id": "rs756217020", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs756217020" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 513, "end_pos": 513, "sequence_org": "M", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NLM->NLT).", "chr_id": "19", "chr_pos": "21973496", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M513", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O43345", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O43345" }, { "id": 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"https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "No", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O43345", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43345" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O43345", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43345" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "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": "down", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "O43345", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43345" } ], "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. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "O43345", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43345" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine 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"resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "O43345", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43345" } ], "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": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O43345", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43345" } ], "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": "No", "trend": "up", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "O43345", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43345" } ], "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": "O43345", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43345" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": 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"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43345" } ], "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": "down", "name": "Esophageal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "O43345", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43345" } ], "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": 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"categories": [ "Protein" ] }, { "id": "M0QYK4", "url": "https://www.uniprot.org/uniprot/M0QYK4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "M0QYK4-1", "url": "https://www.uniprot.org/uniprot/M0QYK4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "M0R1F2", "url": "https://www.uniprot.org/uniprot/M0R1F2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "M0R1F2-1", "url": "https://www.uniprot.org/uniprot/M0R1F2-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "M0R293", "url": "https://www.uniprot.org/uniprot/M0R293", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "M0R293-1", "url": "https://www.uniprot.org/uniprot/M0R293-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "M0R370", "url": "https://www.uniprot.org/uniprot/M0R370", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "M0R370-1", "url": "https://www.uniprot.org/uniprot/M0R370-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O43345", "url": "https://www.uniprot.org/uniprot/O43345", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O43345-1", "url": "https://www.uniprot.org/uniprot/O43345-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O43345-2", "url": "https://www.uniprot.org/uniprot/O43345-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MGSLTFRDVAIEFSLEEWQCLDTAQQNLYRNVMLENYRNLVFLGIAAFKPDLIIFLEEGKESWNMKRHEMVEESPVICSHFAQDLWPEQGIEDSFQKVILRRYEKCGHENLHLKIGYTNVDECKVHKEGYNKLNQSLTTTQSKVFQRGKYANVFHKCSNSNRHKIRHTGKKHLQCKEYVRSFCMLSHLSQHKRIYTRENSYKCEEGGKAFNWSSTLTYYKSAHTGEKPYRCKECGKAFSKFSILTKHKVIHTGEKSYKCEECGKAFNQSAILTKHKIIHTGEKPNKCEECGKAFSKVSTLTTHKAIHAGEKPYKCKECGKAFSKVSTLITHKAIHAGEKPYKCKECGKAFSKFSILTKHKVIHTGEKPYKCEECGKAYKWPSTLSYHKKIHTGEKPYKCEECGKGFSMFSILTKHEVIHTGEKPYKCEECGKAFNWSSNLMEHKKIHTGETPYKCEECGKGFSMFSILTKHKVIHNGEKPYKCEECDKATHAGEKPYKCEECGKAFNWSSNLMEHKRIHTGEKPYKCEECGKSFSTFSILTKHKVIHTGEKPYKCEECGKAYKWSSTLSYHKKIHTVEKPYKCEECGKAFNQSAILIKHKRIHTGEKPYKCEECGKTFSKVSTLTTHKAIHAGEKPYKCKECGKTFIKVSTLTTHKAIHAGEKPYKCKECGKAFSKFSILTKHKVIHTGEKPYKCEECGKAFNWSSNLMEHKRIHTGEKPYKCEECGKSFSTFSVLTKHKVIHTGEKPYKCEECGKAYKWSSTLSYHKKIHTVEKPYKCEECGKAFNRSAILIKHKRIHTDEKPYKCEECGKTFSKVSTLTTHKAIHAGEKPYKCKECGKAFSKFSILTKHKVIHTGEKPYKCEECGKAYKWPSTLSYHKKIHTGEKPYKCEECGKGFSMFSILTKHEVIHTGEKPYKCEECGKAFSWLSVFSKHKKTHAGEKFYKCEACGKAYKSSSTLSYHKKIHTEEKPYKYEECGKGFSTFSILTKHKVIHTGEKPYKCEECGKAFNWSSNLMEHKKIHTGETPYKCEECDKAFSWPSSLTEHKATHAGEKPYKCEECGKAFSWPSRLTEHKATHAGEEPYKCEECGKAFNWSSNLMEHKRIHTGEKPYKCEECGKSFSTFSILTKHKVIHTGEKPYKCEECGKAYKWSSTLSYHKKIHTVEKPYKCEECGKGFVMFSILAKHKVIHTGEKLYKCEECGKAYKWPSTLRYHKKIHTGEKPYKCEECGKAFSTFSILTKHKVIHTGEKPYKCEECGKAFSWLSVFSKHKKIHTGEKL", "length": 1280, "header": "sp|O43345-1|ZN208_HUMAN Isoform 1 of Zinc finger protein 208 OS=Homo sapiens OX=9606 GN=ZNF208 PE=2 SV=2 CANONICAL=O43345-1" }, "isoforms": [ { "isoform_ac": "M0QXL7-1", "url": "", "sequence": { "sequence": "MGSLTFRDVAIEFSLEEWQCLDTAQQNLYRNVMLENYRNLVFLGIAAFKPDLIIFLEEGKESWNMKRHEMVEESPVICSHFAQDLWPEQGIEDSFQKVILRRYKIHHHACELGPIMNHHPTCGQMHI", "length": 127, "header": "tr|M0QXL7-1|M0QXL7_HUMAN Computationally mapped isoform of Zinc finger protein 208 OS=Homo sapiens OX=9606 GN=ZNF208 PE=4 SV=1 CANONICAL=O43345-1" }, "locus": { "chromosome": "19", "start_pos": 22010794, "end_pos": 21933162, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000599916.5", "url": "https://www.ensembl.org/id/ENST00000599916.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000469254.1", "url": "https://www.ensembl.org/id/ENSP00000469254.1" } ] } }, { "isoform_ac": "M0QYK4-1", "url": "", "sequence": { "sequence": "MGSLTFRDVAIEFSLEEWQCLDTAQQNLYRNVMLENYRNLVFLGIAAFKPDLIIFLEEGKESWNMKRHEMVEESPGMVGSSGPESSAPYHVHCCPFVLSLRLVSETHQLFLS", "length": 112, "header": "tr|M0QYK4-1|ZN208_HUMAN Computationally mapped isoform of Zinc finger protein 208 OS=Homo sapiens OX=9606 GN=ZNF208 PE=2 SV=1 CANONICAL=O43345-1" }, "locus": { "chromosome": "19", "start_pos": 22010794, "end_pos": 21941315, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000601773.5", "url": "https://www.ensembl.org/id/ENST00000601773.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000469887.1", "url": "https://www.ensembl.org/id/ENSP00000469887.1" } ] } }, { "isoform_ac": "M0R1F2-1", "url": "", "sequence": { "sequence": "MPGTQLILYDGSLTFRDVAIEFSLEEWQCLDTAQQNLY", "length": 38, "header": "tr|M0R1F2-1|M0R1F2_HUMAN Computationally mapped isoform of Zinc finger protein 208 OS=Homo sapiens OX=9606 GN=ZNF208 PE=4 SV=1 CANONICAL=O43345-1" }, "locus": { "chromosome": "19", "start_pos": 21991468, "end_pos": 21988826, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000601993.1", "url": "https://www.ensembl.org/id/ENST00000601993.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000471831.1", "url": "https://www.ensembl.org/id/ENSP00000471831.1" } ] } }, { "isoform_ac": "M0R293-1", "url": "", "sequence": { "sequence": "MLENYRNLVFLGIAAFKPDLIIFLEEGKESWNMKRHEMVEESPGASSVLHF", "length": 51, "header": "tr|M0R293-1|M0R293_HUMAN Computationally mapped isoform of Zinc finger protein 208 OS=Homo sapiens OX=9606 GN=ZNF208 PE=4 SV=1 CANONICAL=O43345-1" }, "locus": { "chromosome": "19", "start_pos": 21988816, "end_pos": 21987041, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000597040.1", "url": "https://www.ensembl.org/id/ENST00000597040.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000472406.1", "url": "https://www.ensembl.org/id/ENSP00000472406.1" } ] } }, { "isoform_ac": "M0R370-1", "url": "", "sequence": { "sequence": "XSLTFRDVAIEFSLEEWQCLDTAQQNLYRNVMLENYRNLVFLGIAAFKPDLIIFLEEGKESWNMKRHEMVEESPGR", "length": 76, "header": "tr|M0R370-1|M0R370_HUMAN Computationally mapped isoform of Zinc finger protein 208 OS=Homo sapiens OX=9606 GN=ZNF208 PE=4 SV=1 CANONICAL=O43345-1" }, "locus": { "chromosome": "19", "start_pos": 21988908, "end_pos": 21987210, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000599723.1", "url": "https://www.ensembl.org/id/ENST00000599723.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000473026.1", "url": "https://www.ensembl.org/id/ENSP00000473026.1" } ] } }, { "isoform_ac": "O43345-1", "url": "", "sequence": { "sequence": "MGSLTFRDVAIEFSLEEWQCLDTAQQNLYRNVMLENYRNLVFLGIAAFKPDLIIFLEEGKESWNMKRHEMVEESPVICSHFAQDLWPEQGIEDSFQKVILRRYEKCGHENLHLKIGYTNVDECKVHKEGYNKLNQSLTTTQSKVFQRGKYANVFHKCSNSNRHKIRHTGKKHLQCKEYVRSFCMLSHLSQHKRIYTRENSYKCEEGGKAFNWSSTLTYYKSAHTGEKPYRCKECGKAFSKFSILTKHKVIHTGEKSYKCEECGKAFNQSAILTKHKIIHTGEKPNKCEECGKAFSKVSTLTTHKAIHAGEKPYKCKECGKAFSKVSTLITHKAIHAGEKPYKCKECGKAFSKFSILTKHKVIHTGEKPYKCEECGKAYKWPSTLSYHKKIHTGEKPYKCEECGKGFSMFSILTKHEVIHTGEKPYKCEECGKAFNWSSNLMEHKKIHTGETPYKCEECGKGFSMFSILTKHKVIHNGEKPYKCEECDKATHAGEKPYKCEECGKAFNWSSNLMEHKRIHTGEKPYKCEECGKSFSTFSILTKHKVIHTGEKPYKCEECGKAYKWSSTLSYHKKIHTVEKPYKCEECGKAFNQSAILIKHKRIHTGEKPYKCEECGKTFSKVSTLTTHKAIHAGEKPYKCKECGKTFIKVSTLTTHKAIHAGEKPYKCKECGKAFSKFSILTKHKVIHTGEKPYKCEECGKAFNWSSNLMEHKRIHTGEKPYKCEECGKSFSTFSVLTKHKVIHTGEKPYKCEECGKAYKWSSTLSYHKKIHTVEKPYKCEECGKAFNRSAILIKHKRIHTDEKPYKCEECGKTFSKVSTLTTHKAIHAGEKPYKCKECGKAFSKFSILTKHKVIHTGEKPYKCEECGKAYKWPSTLSYHKKIHTGEKPYKCEECGKGFSMFSILTKHEVIHTGEKPYKCEECGKAFSWLSVFSKHKKTHAGEKFYKCEACGKAYKSSSTLSYHKKIHTEEKPYKYEECGKGFSTFSILTKHKVIHTGEKPYKCEECGKAFNWSSNLMEHKKIHTGETPYKCEECDKAFSWPSSLTEHKATHAGEKPYKCEECGKAFSWPSRLTEHKATHAGEEPYKCEECGKAFNWSSNLMEHKRIHTGEKPYKCEECGKSFSTFSILTKHKVIHTGEKPYKCEECGKAYKWSSTLSYHKKIHTVEKPYKCEECGKGFVMFSILAKHKVIHTGEKLYKCEECGKAYKWPSTLRYHKKIHTGEKPYKCEECGKAFSTFSILTKHKVIHTGEKPYKCEECGKAFSWLSVFSKHKKIHTGEKL", "length": 1280, "header": "sp|O43345-1|ZN208_HUMAN Isoform 1 of Zinc finger protein 208 OS=Homo sapiens OX=9606 GN=ZNF208 PE=2 SV=2 CANONICAL=O43345-1" }, "locus": { "chromosome": "19", "start_pos": 22010794, "end_pos": 21971194, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000397126.9", "url": "https://www.ensembl.org/id/ENST00000397126.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000380315.3", "url": "https://www.ensembl.org/id/ENSP00000380315.3" } ] } }, { "isoform_ac": "O43345-2", "url": "", "sequence": { "sequence": "MGSLTFRDVAIEFSLEEWQCLDTAQQNLYRNVMLENYRNLVFLGIAAFKPDLIIFLEEGKESWNMKRHEMVEESPVICSHFAQDLWPEQGIEDSFQKVILRRYEKCGHENLHLKIGYTNVDECKVHKEGYNKLNQSLTTTQSKVFQRGKYANVFHKCSNSNRHKIRHTGKKHLQCKEYVRSFCMLSHLSQHKRIYTRENSYKCEEGGKAFNWSSTLTYYKSAHTGEKPYRCKECGKAFSKFSILTKHKVIHTGEKSYKCEECGKAFNQSAILTKHKIIHTGEKPNKCEECGKAFSKVSTLTTHKAIHAGEKPYKCKECGKAFSKVSTLITHKAIHAGEKPYKCKECGKAFSKFSILTKHKVIHTGEKPYKCEECGKAYKWPSTLSYHKKIHTGEKPYKCEECGKGFSMFSILTKHEVIHTGEKPYKCEECGKAFNWSSNLMEHKKIHTGETPYKCEECGKGFSWSSTLSYHKKIHTVEKPYKCEECGKAFNQSAILIKHKRIHTGEKPYKCEECGKTFSKVSTLTTHKAIHAGEKPYKCKECGKTFIKVSTLTTHKAIHAGEKPYKCKECGKAFSKFSILTKHKVIHTGEKPYKCEECGKAFNWSSNLMEHKRIHTGEKPYKCEECGKSFSTFSVLTKHKVIHTGEKPYKCEECGKAYKWSSTLSYHKKIHTVEKPYKCEECGKAFNRSAILIKHKRIHTDEKPYKCEECGKTFSKVSTLTTHKAIHAGEKPYKCKECGKAFSKFSILTKHKVIHTGEKPYKCEECGKAYKWPSTLSYHKKIHTGEKPYKCEECGKGFSMFSILTKHEVIHTGEKPYKCEECGKAFSWLSVFSKHKKTHAGEKFYKCEACGKAYNTFSILTKHKVIHTGEKPYKCEECGKAFNWSSNLMEHKKIHTGETPYKCEECDKAFSWPSSLTEHKATHAGEKPYKCEECGKAFSWPSRLTEHKATHAGEEPYKCEECGKAFNWSSNLMEHKRIHTGEKPYKCEECGKSFSTFSILTKHKVIHTGEKPYKCEECGKAYKWSSTLSYHKKIHTVEKPYKCEECGKGFVMFSILAKHKVIHTGEKLYKCEECGKAYKWPSTLRYHKKIHTGEKPYKCEECGKAFSTFSILTKHKVIHTGEKPYKCEECGKAFSWLSVFSKHKKIHTGVPNPPTHKKIHAGEKLYK", "length": 1167, "header": "sp|O43345-2|ZN208_HUMAN Isoform 2 of Zinc finger protein 208 OS=Homo sapiens OX=9606 GN=ZNF208 PE=2 SV=2 CANONICAL=O43345-1" }, "locus": {} } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 1164, "start_aa": "Thr", "end_pos": 1164, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1164", "evidence": [ { "id": "O43345", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O43345" }, { "id": "38253038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38253038" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 1182, "start_aa": "Ser", "end_pos": 1182, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1182", "evidence": [ { "id": "O43345", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O43345" }, { "id": "38253038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38253038" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Ligand-dependent transcription activation by nuclear receptors requires the DRIP complex.", "journal": "Nature", "date": "1999", "authors": "Rachez C, Lemon BD, Suldan Z, Bromleigh V, Gamble M, Naar AM, Erdjument-Bromage H, Tempst P, Freedman LP", "evidence": [ { "database": "Reactome", "id": "R-HSA-212436", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-212436" } ], "reference": [ { "type": "PubMed", "id": "10235266", "url": "https://glygen.org/publication/PubMed/10235266" } ] }, { "title": "KAP-1 corepressor protein interacts and colocalizes with heterochromatic and euchromatic HP1 proteins: a potential role for Kruppel-associated box-zinc finger proteins in heterochromatin-mediated gene silencing.", "journal": "Molecular and cellular biology", "date": "1999", "authors": "Ryan RF, Schultz DC, Ayyanathan K, Singh PB, Friedman JR, Fredericks WJ, Rauscher FJ 3rd", "evidence": [ { "database": "Reactome", "id": "R-HSA-212436", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-212436" } ], "reference": [ { "type": "PubMed", "id": "10330177", "url": "https://glygen.org/publication/PubMed/10330177" } ] }, { "title": "Transcriptional coactivator complexes.", "journal": "Annual review of biochemistry", "date": "2001", "authors": "Naar AM, Lemon BD, Tjian R", "evidence": [ { "database": "Reactome", "id": "R-HSA-212436", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-212436" } ], "reference": [ { "type": "PubMed", "id": "11395415", "url": "https://glygen.org/publication/PubMed/11395415" } ] }, { "title": "KRAB-containing zinc-finger repressor proteins.", "journal": "Genome biology", "date": "2003", "authors": "Urrutia R", "evidence": [ { "database": "Reactome", "id": "R-HSA-212436", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-212436" } ], "reference": [ { "type": "PubMed", "id": "14519192", "url": "https://glygen.org/publication/PubMed/14519192" } ] }, { "title": "A unified nomenclature for protein subunits of mediator complexes linking transcriptional regulators to RNA polymerase II.", "journal": "Molecular cell", "date": "2004", "authors": "Bourbon HM, Aguilera A, Ansari AZ, Asturias FJ, Berk AJ, Bjorklund S, Blackwell TK, Borggrefe T, Carey M, Carlson M, Conaway JW, Conaway RC, Emmons SW, Fondell JD, Freedman LP, Fukasawa T, Gustafsson CM, Han M, He X, Herman PK, Hinnebusch AG, Holmberg S, Holstege FC, Jaehning JA, Kim YJ, Kuras L, Leutz A, Lis JT, Meisterernest M, Naar AM, Nasmyth K, Parvin JD, Ptashne M, Reinberg D, Ronne H, Sadowski I, Sakurai H, Sipiczki M, Sternberg PW, Stillman DJ, Strich R, Struhl K, Svejstrup JQ, Tuck S, Winston F, Roeder RG, Kornberg RD", "evidence": [ { "database": "Reactome", "id": "R-HSA-212436", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-212436" } ], "reference": [ { "type": "PubMed", "id": "15175151", "url": "https://glygen.org/publication/PubMed/15175151" } ] }, { "title": "Dynamic regulation of pol II transcription by the mammalian Mediator complex.", "journal": "Trends in biochemical sciences", "date": "2005", "authors": "Malik S, Roeder RG", "evidence": [ { "database": "Reactome", "id": "R-HSA-212436", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-212436" } ], "reference": [ { "type": "PubMed", "id": "15896744", "url": "https://glygen.org/publication/PubMed/15896744" } ] }, { "title": "A comprehensive catalog of human KRAB-associated zinc finger genes: insights into the evolutionary history of a large family of transcriptional repressors.", "journal": "Genome research", "date": "2006", "authors": "Huntley S, Baggott DM, Hamilton AT, Tran-Gyamfi M, Yang S, Kim J, Gordon L, Branscomb E, Stubbs L", "evidence": [ { "database": "Reactome", "id": "R-HSA-212436", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-212436" } ], "reference": [ { "type": "PubMed", "id": "16606702", "url": "https://glygen.org/publication/PubMed/16606702" } ] }, { "title": "Transcriptional regulatory elements in the human genome.", "journal": "Annual review of genomics and human genetics", "date": "2006", "authors": "Maston GA, Evans SK, Green MR", "evidence": [ { "database": "Reactome", "id": "R-HSA-212436", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-212436" } ], "reference": [ { "type": "PubMed", "id": "16719718", "url": "https://glygen.org/publication/PubMed/16719718" } ] }, { "title": "A novel mediator between activator proteins and the RNA polymerase II transcription apparatus.", "journal": "Cell", "date": "1990", "authors": "Kelleher RJ 3rd, Flanagan PM, Kornberg RD", "evidence": [ { "database": "Reactome", "id": "R-HSA-212436", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-212436" } ], "reference": [ { "type": "PubMed", "id": "2163759", "url": "https://glygen.org/publication/PubMed/2163759" } ] }, { "title": "Genetic variants in the ZNF208 gene are associated with esophageal cancer in a Chinese Han population.", "journal": "Oncotarget", "date": "2016", "authors": "Wang H, Yu J, Guo Y, Zhang Z, Liu G, Li J, Zhang X, Jin T, Wang Z", "evidence": [ { "database": "RefSeq", "id": "NP_009084", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_009084" } ], "reference": [ { "type": "PubMed", "id": "27907911", "url": "https://glygen.org/publication/PubMed/27907911" } ] }, { "title": "ZNF208 polymorphisms associated with ischemic stroke in a southern Chinese Han population.", "journal": "The journal of gene medicine", "date": "2017", "authors": "Yu J, Zhou F, Luo D, Wang N, Zhang C, Jin T, Liang X, Yu D", "evidence": [ { "database": "RefSeq", "id": "NP_009084", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_009084" } ], "reference": [ { "type": "PubMed", "id": "27936511", "url": "https://glygen.org/publication/PubMed/27936511" } ] }, { "title": "Studying the O-GlcNAcome of human placentas using banked tissue samples.", "journal": "Glycobiology", "date": "2024-01-22", "authors": "Luna Sarai, Malard Florian, Pereckas Michaela, Aoki Mayumi, Aoki Kazahiro, Olivier-Van Stichelen Stephanie", "evidence": [ { "database": "O-GlcNAc Database", "id": "O43345", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O43345" } ], "reference": [ { "type": "PubMed", "id": "38253038", "url": "https://glygen.org/publication/PubMed/38253038" } ] }, { "title": "Kruppel-associated boxes are potent transcriptional repression domains.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1994", "authors": "Margolin JF, Friedman JR, Meyer WK, Vissing H, Thiesen HJ, Rauscher FJ 3rd", "evidence": [ { "database": "Reactome", "id": "R-HSA-212436", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-212436" } ], "reference": [ { "type": "PubMed", "id": "8183939", "url": "https://glygen.org/publication/PubMed/8183939" } ] }, { "title": "KAP-1, a novel corepressor for the highly conserved KRAB repression domain.", "journal": "Genes & development", "date": "1996", "authors": "Friedman JR, Fredericks WJ, Jensen DE, Speicher DW, Huang XP, Neilson EG, Rauscher FJ 3rd", "evidence": [ { "database": "Reactome", "id": "R-HSA-212436", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-212436" } ], "reference": [ { "type": "PubMed", "id": "8769649", "url": "https://glygen.org/publication/PubMed/8769649" } ] }, { "title": "A novel protein complex that interacts with the vitamin D3 receptor in a ligand-dependent manner and enhances VDR transactivation in a cell-free system.", "journal": "Genes & development", "date": "1998", "authors": "Rachez C, Suldan Z, Ward J, Chang CP, Burakov D, Erdjument-Bromage H, Tempst P, Freedman LP", "evidence": [ { "database": "Reactome", "id": "R-HSA-212436", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-212436" } ], "reference": [ { "type": "PubMed", "id": "9637681", "url": "https://glygen.org/publication/PubMed/9637681" } ] }, { "title": "The TRAP220 component of a thyroid hormone receptor- associated protein (TRAP) coactivator complex interacts directly with nuclear receptors in a ligand-dependent fashion.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1998", "authors": "Yuan CX, Ito M, Fondell JD, Fu ZY, Roeder RG", "evidence": [ { "database": "Reactome", "id": "R-HSA-212436", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-212436" } ], "reference": [ { "type": "PubMed", "id": "9653119", "url": "https://glygen.org/publication/PubMed/9653119" } ] }, { "title": "Complex beta-satellite repeat structures and the expansion of the zinc finger gene cluster in 19p12.", "journal": "Genome Res.", "date": "1998", "authors": "Eichler EE, Hoffman SM, Adamson AA, Gordon LA, McCready P, Lamerdin JE, Mohrenweiser HW", "evidence": [ { "database": "UniProtKB", "id": "O43345", "url": "https://www.uniprot.org/uniprot/O43345" } ], "reference": [ { "type": "PubMed", "id": "9724325", "url": "https://glygen.org/publication/PubMed/9724325" } ] } ], "pathway": [ { "id": "hsa:7757", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:7757", "resource": "KEGG Pathway" }, { "id": "R-HSA-212436", "name": "Generic Transcription Pathway", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-212436", "resource": "Reactome", "description": "Generic Transcription Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "A6NN14-1", "protein_name": "Zinc finger protein 729", "gene_name": "ZNF729", "tax_id": 9606, "organism": "Homo sapiens", "sequence": { "sequence": "MPGAPGSLEMGPLTFRDVTIEFSLEEWQCLDTVQQNLYRDVMLENYRNLVFLGMAVFKPDLITCLKQGKEPWNMKRHEMVTKPPVMRSHFTQDLWPDQSTKDSFQEVILRTYARCGHKNLRLRKDCKSANEGKMHKEGYNKLNQCRTATQRKIFQCNKHMKVFHKYSNRNKVRHTKKKTFKCIKCSKSFFMLSCLIRHKRIHIRQNIYKCEERGKAFKSFSTLTKHKIIHTEDKPYKYKKCGNAFKFSSTFTKHKRIHTGETPFRCEECGKAFNQSSNLTDHKRIHTGEKTYKCEECGKAFKGSSNFNAHKVIHTAEKPYKCEDCGKTFNHFSALRKHKIIHTGKKPYKREECGKAFSQSSTLRKHEIIHTGEKPYKCEECGKAFKWSSKLTVHKVVHTGEKPYKCEECGKAFSQFSTLKKHKIIHTGKKPYKCEECGKAFNSSSTLMKHKIIHTGEKPYKCEECGKAFRQSSHLTRHKAIHTGEKPYKCEECGKAFNHFSDLRRHKIIHTGKKPYKCEECGKAFSQSSTLRNHQIIHTGEKPYKCEECGKAFKWSSKLTVHKVIHTGEKPCKCEECGKAFKHFSALRKHKVIHTREKLYKCEECGKAFNNSSILAKHKIIHTGKKPYKCEECGKAFRQSSHLTRHKAIHTGEKPYKCEECGKAFSHFSALRRHKIIHTGKKPYKCEECGKAFSHFSALRRHKIIHTGEKPYKCEECGKAFKWSSKLTVHKVIHTAEKPCKCEECGKSFKHFSALRKHKVIHTREKLYKCEECVKAFNSFSALMKHKVIHTGEKPYKCEECGKAFKWSSKLTVHKVIHTGEKPCKCEECGKAFKHFSALRKHKVIHTGKKPYKCEECGKAFSQSSSLRKHEIIHSGEKPYKCEECGKAFKWLSKLTVHKVIHTAEKPCKCEECGKAFKHFSALRKHKIIHTGKKPYKCEECGKAFNDSSTLMKHKIIHTGKKPYKCAECGKAFKQSSHLTRHKAIHTGEKPYKCEECGKDFNNSSTLKKHKLIHTREKLYKCEECVKAFNNFSALMKHKIIHTGEKPYKCEECGKAFKWSSKLTEHKVIHTGEKPCKCEECDKAFKHFSALRKHKVIHTGKKPYQCDECGKAFNNSSTLTKHKIIHTGEKPYKCEECGKAFSQSSILTKHKIIHSVEKPYKCEECGKAFNQSSHLTRHKTIHTGEKPYKCEECGKAFIQCSYLIRHKTIHTREKPTNVKKVPKLLSNPHTLLDKTIHTGEKPYKCEECAKAF", "length": 1252 }, "evidence": [ { "id": "45936916", "url": "http://www.informatics.jax.org/homology/45936916", "database": "MGI" } ], "common_name": "Human" }, { "uniprot_canonical_ac": "A8MQ14-1", "protein_name": "Zinc finger protein 850", "gene_name": "ZNF850", "tax_id": 9606, "organism": "Homo sapiens", "sequence": { "sequence": "MNMEGLVMFQDLSIDFSQEEWECLDAAQKDLYRDVMMENYSSLVSLGLSIPKPDVISLLEQGKEPWMVSRDVLGGWCRDSEFRCKTKDSCLPKEIYEVTSSQWVRMEKCHSLVGSSVRDDWECKGQFQHQDINQERYLEKAIMTYETTPTFCLQTSLTLHHRIHPGEKLYKSTECMAFKYGSELTQQQETHTGEKLYKCKECGKAFHHFSYLVKHQRIHTGEKPCACKEYGKAFISGSHLIQHQKMYTDERPHECQESVKAFRPSAHLIQHWRIHTGDKPYECKECGKSFTSGSTLNQHQQIHTGEKPYHCKQCGKSFTVGSTLIRHQQIHTGEKPYDCKECGKSFASGSALIRHQRIHTGEKPYDCKECGKSFTFHSALIRHQRIHTGEKPYDCKECGKSFTFRSGLIGHQAIHTGEKPYDCKECGKSFTAGSTLIQHQRIHTGEKPYDCKECGKSFASGSALLQHQRIHTGEKPYCCKECGKSFTFRSTRNRHQRIHTGEKPYNCKECGKSFASGSALLQHQRIHTGEKPYHCKECGKSFTFRSGLIGHQAVHTGEKPYDCKECGKSFTSRSALIQHQRIHTGEKPYHCKECGKSFTVGSTLLQHQQIHTGEKPYDCKECGKAFRLRLRLTQHQQIHTGEKPYQCQECGKAFVSVSGLTQHHRIHTGEKPYECPDCGKAFRQRTYLNQHRRIHTGEKPYECKECGKSFTFCSGLIQHQQNHTDEKPYDGKECGKSFTSHSTLIQHQQIHTGEKPYDCKECGKSFTSHSTLIQHQQIHTGEKLYDCKECGKSFTSHSTLIQHQPLHTGEKPYHCKECGKSFTLRSALIQHRPVHTGEKRYSCKECGKSFTSRSTLIEHQRIHTGEKPYHCKECGKSFAFRSAIIQHRRIHTGEKPYDCKECGKAFRRRSKLTQHQRIHTGEKPYRCHECGKAFVRFSGLTKHHSIHTGEKPYECKTCGKSFRQRTHLTLHQRIHTGDRPYECKECGKSFTCGSELIRHQRTHTGEKPYDCKECGKAFRCPSQLSQHKRIHTGEKTYQCPECGKAFFYASGLSRHQSVHTGEKPYECKTCGKAFKQLTQLTRHQRIHDLT", "length": 1090 }, "evidence": [ { "id": "45936950", "url": "http://www.informatics.jax.org/homology/45936950", "database": "MGI" } ], "common_name": "Human" }, { "uniprot_canonical_ac": "A8MXY4-1", "protein_name": "Zinc finger protein 99", "gene_name": "ZNF99", "tax_id": 9606, "organism": "Homo sapiens", "sequence": { "sequence": "MGSLTFWDVTIEFALEEWQCLDMAQQNLYRNVMLENYRNLVFLGIAVSKLDLITCLKQGKEPWNMKRHEMVTKPPVISSHFTQDFWPDQSIKDSFQEIILRTYARCGHKNLRLRKDCESVNEGKMHEEAYNKLNQCWTTTQGKIFQCNKYVKVFHKYSNSNRYKIRHTKKKTFKCMKCSKSFFMLSHLIQHKRIHTRENIYKCEERGKAFKWFSTLIKHKIIHTEDKPYKYKKCGKAFNISSMFTKCKIIHTGKKPCKCEECGKVFNNSSTLMKHKIIHTGKKPYKCEECGKAFKQSSHLTRHKAIHTGEKPYKCEECGKAFNHFSALRKHQIIHTGKKPYKCEECGKAFSQSSTLRKHEIIHTEEKPYKYEECGKAFSNLSALRKHEIIHTGQKPYKCEECGKAFKWSSKLTVHKVIHTAEKPCKCEECGKAFKRFSALRKHKIIHTGKQPYKCEECSKAFSNFSALRKHEIIHTGEKPYKCEECGKAFKWSSKLTVHKVIHMEEKPCKCEECGKAFKHFSALRKHKIIHTGKKPYKCEECGKAFNNSSTLMKHKIIHTGKKPYKCEECGKAFKQSSHLTRHKAIHTGEKPYKCEECGKAFNHFSALRKHQIIHTGKKPYKCEECGKAFSQSSTLRKHEIIHTGEKPYKCEECGKAFKWSSHLTRHKVIHTEEKPYKCEECGKAFNHFSALRKHKIIHTGKKPYKCEECGKAFSQSSTLRKHEIIHTGEKPYKCEECGKAFKWSSKLTVHKVIHTAEKPCKCEECGKAFKHFSALRKHKIIHTGKKPYKCEECGKAFNNSSTLRKHEIIHTGEKSYKCEECGKAFQWSSKLTLHKVIHMERNPANVKNVAKLLNISQPLENMR", "length": 864 }, "evidence": [ { "id": "45936916", "url": "http://www.informatics.jax.org/homology/45936916", "database": "MGI" } ], "common_name": "Human" }, { "uniprot_canonical_ac": "G3X9T2-1", "protein_name": "Zinc finger protein 619", "gene_name": "Zfp619", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MDLVTFEDVAVNFTQEEWTLLDPSQKNLYINVMLETCSNLASVGIKSEYQTIEDQYKQPGKNIRNIITRSGYTPYALEDCGEKPYHSSSLTTIHIYVGIHTVSGAYGYEVYSKPVGAPSSCGTGEQIQSGEQPHGYTINKTAFICPSSFCSSEVTDTEENPSECKPGGTTLSPFNYPPFCSGTHNGGKHVDCTQCVKAFRCHSSLQRQERMCAEEKPYECKQCGKSFVYPYLLKMHERHHTGEKPYKCKTCGKAFLCSSFLQRHKRTHTGEKPYKCKQCAKPFRRLSNLQVHERTHSGEKPYECRECGKALRSHSSLQRHKIVHAGKKPYECKQCGKSFIYPYLLQTHERSHTGEKPYKCPLCSKAFRCSSFLQRHERTHTGGKPYECKQCGKAFKGHSSLRLHARSHGGEKPYKCNLCSKAFLCPSFLRRHERTHTRERPYECRKCNKAFRGQSSLKLHERSHTGEKPYKCKICSKAFLCSSFLQRHERIHCEEKPYVCKQSGKDLKDRSSFQRQKVSHAGEKPYECKQCGKSFVYPCLLQVHVRTHTGEKPYRCKQCDKAFRSLSYLRIHEGSHTEEKPYECKECGKTLSCSSALQLHTRTHTGEKPYVCQQCGKAFRGFSYLRVHERTHTEAKPYECKQCGKILSCSSSLQLHERTHTGEKPYSCNQCGKAFRGLSRLRVHEIIHTGEKPHECKLCGKAFRYRSLLRVHERTHTGEKPYACKQCSKAFKSLSNLRIHEKTHSGFYECKQCGKTLSSSNSLQVHERVHSEEKSHACKQCGKTFRRLSNLQVHEKTHAEGKPYECKQCAKSFLYQYLLEKHEKSHTAEKPYKCMICSKAFICASFLQRHERIHSAEKPYECVQCGKAFKGLSSLQLHERAHAREKHYDCTQCGKTFRCHSLLQAHERTHTGEKPFVCAECGKTFKSAGYLRIHEKTHSGFYECKQCGKILSCSSSLQLHERTHTGEKPYECKQCGKAFRSQSSLRRHERIHAGEKPYECKQCGKSFIYPCYLQMHERSHTGEKLYKCKICSKAFLYPCFLQMHERTHTGEKPYKCKQCAKAFRSHSSLQMHEKTHTGDRPYECKQCGKVLISHSSLQRHKIAHAGRKRYECKQCGKSFAYPYLLQTHERSHTGEKPYECKDCRKAFTCHRSLQRHRKTHT", "length": 1161 }, "evidence": [ { "id": "45936950", "url": "http://www.informatics.jax.org/homology/45936950", "database": "MGI" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "Q05481-1", "protein_name": "Zinc finger protein 91", "gene_name": "ZNF91", "tax_id": 9606, "organism": "Homo sapiens", "sequence": { "sequence": "MPGTPGSLEMGLLTFRDVAIEFSPEEWQCLDTAQQNLYRNVMLENYRNLAFLGIALSKPDLITYLEQGKEPWNMKQHEMVDEPTGICPHFPQDFWPEQSMEDSFQKVLLRKYEKCGHENLQLRKGCKSVDECKVHKEGYNKLNQCLTTAQSKVFQCGKYLKVFYKFLNSNRHTIRHTGKKCFKCKKCVKSFCIRLHKTQHKCVYITEKSCKCKECEKTFHWSSTLTNHKEIHTEDKPYKCEECGKAFKQLSTLTTHKIICAKEKIYKCEECGKAFLWSSTLTRHKRIHTGEKPYKCEECGKAFSHSSTLAKHKRIHTGEKPYKCEECGKAFSRSSTLAKHKRIHTGEKPYKCKECGKAFSNSSTLANHKITHTEEKPYKCKECDKAFKRLSTLTKHKIIHAGEKLYKCEECGKAFNRSSNLTIHKFIHTGEKPYKCEECGKAFNWSSSLTKHKRFHTREKPFKCKECGKAFIWSSTLTRHKRIHTGEKPYKCEECGKAFRQSSTLTKHKIIHTGEKPYKFEECGKAFRQSLTLNKHKIIHSREKPYKCKECGKAFKQFSTLTTHKIIHAGKKLYKCEECGKAFNHSSSLSTHKIIHTGEKSYKCEECGKAFLWSSTLRRHKRIHTGEKPYKCEECGKAFSHSSALAKHKRIHTGEKPYKCKECGKAFSNSSTLANHKITHTEEKPYKCKECDKTFKRLSTLTKHKIIHAGEKLYKCEECGKAFNRSSNLTIHKFIHTGEKPYKCEECGKAFNWSSSLTKHKRIHTREKPFKCKECGKAFIWSSTLTRHKRIHTGEKPYKCEECGKAFSRSSTLTKHKTIHTGEKPYKCKECGKAFKHSSALAKHKIIHAGEKLYKCEECGKAFNQSSNLTTHKIIHTKEKPSKSEECDKAFIWSSTLTEHKRIHTREKTYKCEECGKAFSQPSHLTTHKRMHTGEKPYKCEECGKAFSQSSTLTTHKIIHTGEKPYKCEECGKAFRKSSTLTEHKIIHTGEKPYKCEECGKAFSQSSTLTRHTRMHTGEKPYKCEECGKAFNRSSKLTTHKIIHTGEKPYKCEECGKAFISSSTLNGHKRIHTREKPYKCEECGKAFSQSSTLTRHKRLHTGEKPYKCGECGKAFKESSALTKHKIIHTGEKPYKCEKCGKAFNQSSILTNHKKIHTITPVIPLLWEAEAGGSRGQEMETILANTVKPLLY", "length": 1191 }, "evidence": [ { "id": "45936916", "url": "http://www.informatics.jax.org/homology/45936916", "database": "MGI" } ], "common_name": "Human" }, { "uniprot_canonical_ac": "Q4QQP3-1", "protein_name": "Zinc finger protein 729a", "gene_name": "Zfp729a", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MEFGAGTSAFFQEMLSFRDVAIDFSAEEWECLEPAQWNLYRDVMLENYSNLVFLGLASCKPHLITCLEQIQEPSDVKRGAATSMLRGEKCYTCKECGKVFEWTKVFQNHEMLYIGMNPNKCEECARSFHSPSLSSEENRIHTGEKPYKCEVCGKAFCIPLLLSKHKRVHTGENLYKCEVCGKAFQHPSRLSRHKKIHSEEKPYKCEVCGKAFHFPSLLLVHKRVHTGEKPYKCEICDKAFHYPSILSKHKRIHTGEKPYKCEECGKAFHISSFLSKHKIIHRGEKPYKCEVCGKAFHYPSRLSNHKKIHSGEKPFKCEVCGKAFRILSLLSKHKIIHTEENPYKCEVCGKAFDYPSRLSTHAKMHTGEKPYKCEVCQKAFRSLSSLSKHKRIHTEDNYYNNELCGKAFIYPSRLSKHKRICAGEKPYKCEVCGKAFHVSSLLSKHRTIHTGEKLYKCEVCGKAFYYPSRLSNHKKIHTGEKPFQCEVCGKAFCFPSSLSKHKRIHTGEKPYKCKECGKAFRSLSSLSKHKRIHTGEKPYKCEECGKAFHYPSLLSKHKIIHTEEKPYKCDVCGQAFHVPSKLSHHKIIHTGEKPYKCEVCGKAFCIPLLLSKHKRVHTGENPYNSQVCSKAFVYPSKLSKHKKVRTKEKPYKCEVCGKAFRFPSLLLIHKGMHTGEKPYKCEDCGKAFHYPSLLSKHKRIHTGEKPYQCEVCGKDFHVSSSLSKHRIIHTGEKPYKCEICGKTFRFSSSLSKHKRNHTGKKPYKCEECGKAFHFPSILAKHKISHTGEKPYNCDLCGKAFHYASLLSKHKMIHTGEKPHKCDICGKAFHYPSKLSNHKKIHTGEKPYKCEVCGNVFCFASSLSKHKRIHTGENPYKCEVCGKAFYYPSLLSKHKIIHTGEKPYKCDLCGKAFHYPSLLSKHKVIHTGKKPYKCEVCGKAFHYPSRLSKHKKIHGAGDMAQQLRDLAAISIVLS", "length": 973 }, "evidence": [ { "id": "45936916", "url": "http://www.informatics.jax.org/homology/45936916", "database": "MGI" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "Q9UII5-1", "protein_name": "Zinc finger protein 107", "gene_name": "ZNF107", "tax_id": 9606, "organism": "Homo sapiens", "sequence": { "sequence": "MVAKPPVMSFHFAQDLWPEQNIKDSFQKVTLRRYGKCEYENLQLRKGCKHVDECTGHKGGHNTVNQCLTATPSKIFQCNKYVKVFDKFSNSNRYKRRHTGNKHFKCKECSKSFCVLSQLTQHRRIHTRVNSYKCEECGKAFNWFSTLTKHKRIHTGEKPYKCEECGKAFNQSSQLTRHKIIHTEEKPNKCEECGKAFKQASHLTIHKIIHTGEKPYKYEECGKVFSQSSHLTTQKILHTGENLYKCKECGKAFNLFSNLTNHKRIHAGEKPYKCKECGRAFNISSNLNKQEKIHTGGKLNKCEECDKAFNRSLKLTAHKKILMEEKPYKCEECGKVFNQFSTLTRHKIIHTGEKPYKCKECGKAFNQSSNLTEHKKIHTAEKSYKCEECGKAFNQHSNLINHRKIYSGEKPYKCEECGKAFNRSSTLTRHKKIHTGEKPYKCEECDRAFSQSSNLTEHKKIHTGEKPYKCEECGKAFNRFSTLTKHKRIHTGEKPYKCEECGKAFNQSYQLTRHKIVHTKEKLNKCEEFGKAFKQSSHRTIHKIIHTGEKPYKCEEHGKVFNQSSNLTTQKIIHTGENLYKFEEHGKAFNLFSNITNHKIIYTGEKPHKCEECGKAYNRFSNLTIHKRIHTGEKPYQCAECGKAFNCSSTLNRHKIIHTGEKPYKCKECGKAFNLSSTLTAHKKIHTGEKPYKCEECGKAFNQSSNLTTHKKIHTSEKPYKCEECGKSFNQFSSLNIHKIIHTGEKPYKCGDYGRAFNLSSNLTTHKKIHTGEKPYKCEYGKT", "length": 783 }, "evidence": [ { "id": "45936916", "url": "http://www.informatics.jax.org/homology/45936916", "database": "MGI" } ], "common_name": "Human" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 1, "go_terms": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "O43345", "url": "https://www.uniprot.org/uniprot/O43345" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 2, "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": "O43345", "url": "https://www.uniprot.org/uniprot/O43345" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "O43345", "url": "https://www.uniprot.org/uniprot/O43345" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 3, "go_terms": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "O43345", "url": "https://www.uniprot.org/uniprot/O43345" } ], "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": "O43345", "url": "https://www.uniprot.org/uniprot/O43345" } ], "pmid": "" }, { "name": "DNA-binding transcription activator activity, RNA polymerase II-specific", "id": "GO:0001228", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001228", "evidence": [ { "database": "UniProtKB", "id": "O43345", "url": "https://www.uniprot.org/uniprot/O43345" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 1011, "end_pos": 1013, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1095, "end_pos": 1097, "annotation": "n_glycosylation_sequon" }, { "start_pos": 134, "end_pos": 136, 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