{ "uniprot_canonical_ac": "O43823-1", "uniprot_ac": "O43823", "uniprot_id": "AKAP8_HUMAN", "mass": { "chemical_mass": 76108.0, "monoisotopic_mass": 76108.0 }, "refseq": { "ac": "NP_005849", "name": "A-kinase anchor protein 8", "summary": "This gene encodes a member of the A-kinase anchor protein family. A-kinase anchor proteins are scaffold proteins that contain a binding domain for the RI/RII subunit of protein kinase A (PKA) and recruit PKA and other signaling molecules to specific subcellular locations. This gene encodes a nuclear A-kinase anchor protein that binds to the RII alpha subunit of PKA and may play a role in chromosome condensation during mitosis by targeting PKA and the condensin complex to chromatin. A pseudogene of this gene is located on the short arm of chromosome 9. [provided by RefSeq, May 2011].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005849" }, "gene_names": [ { "name": "AKAP8", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O43823", "id": "O43823" }, { "name": "AKAP 95; AKAP-8; AKAP-95; AKAP95", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005849", "id": "NP_005849" }, { "name": "AKAP8", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005849", "id": "NP_005849" }, { "name": "AKAP95", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O43823", "id": "O43823" } ], "protein_names": [ { "name": "A-kinase anchor protein 8", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O43823" }, { "name": "A-kinase anchor protein 8", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005849", "id": "NP_005849" }, { "name": "A-kinase anchor protein 95 kDa", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43823" }, { "name": "A-kinase anchor protein, 95kDa; A kinase (PRKA) anchor protein 8", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005849", "id": "NP_005849" }, { "name": "AKAP 95", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43823" }, { "name": "AKAP-8", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43823" } ], "function": [ { "annotation": "A-Kinase Anchor Protein 95 Is Involved in ERK1/2-Elk-1 Signal Transduction in Colon Cancer. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_005849", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005849" }, { "database": "PubMed", "id": "36691407", "url": "https://glygen.org/publication/PubMed/36691407" } ] }, { "annotation": "A-Kinase Anchoring Proteins Diminish TGF-beta1/Cigarette Smoke-Induced Epithelial-To-Mesenchymal Transition. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_005849", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005849" }, { "database": "PubMed", "id": "32028718", "url": "https://glygen.org/publication/PubMed/32028718" } ] }, { "annotation": "Anchoring protein that mediates the subcellular compartmentation of cAMP-dependent protein kinase (PKA type II) (PubMed:9473338). Acts as an anchor for a PKA-signaling complex onto mitotic chromosomes, which is required for maintenance of chromosomes in a condensed form throughout mitosis. Recruits condensin complex subunit NCAPD2 to chromosomes required for chromatin condensation; the function appears to be independent from PKA-anchoring (PubMed:10601332, PubMed:10791967, PubMed:11964380). May help to deliver cyclin D/E to CDK4 to facilitate cell cycle progression (PubMed:14641107). Required for cell cycle G2/M transition and histone deacetylation during mitosis. In mitotic cells recruits HDAC3 to the vicinity of chromatin leading to deacetylation and subsequent phosphorylation at 'Ser-10' of histone H3; in this function may act redundantly with AKAP8L (PubMed:16980585). Involved in nuclear retention of RPS6KA1 upon ERK activation thus inducing cell proliferation (PubMed:22130794). May be involved in regulation of DNA replication by acting as scaffold for MCM2 (PubMed:12740381). Enhances HMT activity of the KMT2 family MLL4/WBP7 complex and is involved in transcriptional regulation. In a teratocarcinoma cell line is involved in retinoic acid-mediated induction of developmental genes implicating H3 'Lys-4' methylation (PubMed:23995757). May be involved in recruitment of active CASP3 to the nucleus in apoptotic cells (PubMed:16227597). May act as a carrier protein of GJA1 for its transport to the nucleus (PubMed:26880274). May play a repressive role in the regulation of rDNA transcription. Preferentially binds GC-rich DNA in vitro. In cells, associates with ribosomal RNA (rRNA) chromatin, preferentially with rRNA promoter and transcribed regions (PubMed:26683827). Involved in modulation of Toll-like receptor signaling. Required for the cAMP-dependent suppression of TNF-alpha in early stages of LPS-induced macrophage activation; the function probably implicates targeting of PKA to NFKB1 (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "O43823", "url": "https://www.uniprot.org/uniprot/O43823#function" }, { "database": "PubMed", "id": "26683827", "url": "https://glygen.org/publication/PubMed/26683827" }, { "database": "PubMed", "id": "26880274", "url": "https://glygen.org/publication/PubMed/26880274" }, { "database": "PubMed", "id": "10791967", "url": "https://glygen.org/publication/PubMed/10791967" }, { "database": "PubMed", "id": "9473338", "url": "https://glygen.org/publication/PubMed/9473338" }, { "database": "PubMed", "id": "11964380", "url": "https://glygen.org/publication/PubMed/11964380" }, { "database": "UniProtKB", "id": "Q63014", "url": "https://www.uniprot.org/uniprot/Q63014#function" }, { "database": "PubMed", "id": "16980585", "url": "https://glygen.org/publication/PubMed/16980585" }, { "database": "PubMed", "id": "10601332", "url": "https://glygen.org/publication/PubMed/10601332" }, { "database": "UniProtKB", "id": "Q9DBR0", "url": "https://www.uniprot.org/uniprot/Q9DBR0#function" }, { "database": "PubMed", "id": "22130794", "url": "https://glygen.org/publication/PubMed/22130794" }, { "database": "PubMed", "id": "14641107", "url": "https://glygen.org/publication/PubMed/14641107" } ] }, { "annotation": "Biophysical properties of AKAP95 protein condensates regulate splicing and tumorigenesis.", "evidence": [ { "database": "RefSeq", "id": "NP_005849", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005849" }, { "database": "PubMed", "id": "32719551", "url": "https://glygen.org/publication/PubMed/32719551" } ] }, { "annotation": "Identification of A-Kinase Anchor Protein (AKAP8) as a splicing regulatory factor that impedes EMT and breast cancer metastasis. AKAP8 not only is capable of inhibiting splicing activity of the EMT-promoting splicing regulator hnRNPM through protein-protein interaction, it also directly binds to RNA and alters splicing outcomes. Genome-wide analysis shows that AKAP8 promotes an epithelial cell state splicing program. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_005849", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005849" }, { "database": "PubMed", "id": "31980632", "url": "https://glygen.org/publication/PubMed/31980632" } ] }, { "annotation": "It consists of AKAP95, PKA, and PDE4D5 and show that it forms a functional cyclic AMP (cAMP) signaling microdomain.", "evidence": [ { "database": "RefSeq", "id": "NP_005849", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005849" }, { "database": "PubMed", "id": "30982750", "url": "https://glygen.org/publication/PubMed/30982750" } ] }, { "annotation": "This gene encodes a member of the A-kinase anchor protein family. A-kinase anchor proteins are scaffold proteins that contain a binding domain for the RI/RII subunit of protein kinase A (PKA) and recruit PKA and other signaling molecules to specific subcellular locations. This gene encodes a nuclear A-kinase anchor protein that binds to the RII alpha subunit of PKA and may play a role in chromosome condensation during mitosis by targeting PKA and the condensin complex to chromatin. A pseudogene of this gene is located on the short arm of chromosome 9. [provided by RefSeq, May 2011].", "evidence": [ { "database": "RefSeq", "id": "NP_005849", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005849" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "O43823", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O43823" }, { "id": "rs954721453", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs954721453" }, { "id": "rs954721453", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs954721453" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 197, "end_pos": 197, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (DRS->NRS).", "chr_id": "19", "chr_pos": "15373123", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D197", "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" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs746746325", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746746325" }, { "id": "rs746746325", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746746325" }, { "id": "rs746746325", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs746746325" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 207, "end_pos": 207, "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->G).", "chr_id": "19", "chr_pos": "15373093", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S207", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs757681607", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757681607" }, { "id": "rs757681607", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757681607" }, { "id": "rs757681607", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs757681607#frequency_tab" }, { "id": "rs757681607", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs757681607" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 216, "end_pos": 216, "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->F).", "chr_id": "19", "chr_pos": "15373065", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S216", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs764505670", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764505670" }, { "id": "rs764505670", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764505670" }, { "id": "rs764505670", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs764505670" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 217, "end_pos": 217, "sequence_org": "S", "sequence_mut": "C", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->C).", "chr_id": "19", "chr_pos": "15373062", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S217", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs938921665", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs938921665" }, { "id": "rs938921665", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs938921665" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 221, "end_pos": 221, "sequence_org": "S", "sequence_mut": "C", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->C).", "chr_id": "19", "chr_pos": "15373050", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S221", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs759524859", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759524859" }, { "id": "rs759524859", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759524859" }, { "id": "rs759524859", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs759524859#frequency_tab" }, { "id": "rs759524859", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs759524859" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 222, "end_pos": 222, "sequence_org": "T", "sequence_mut": "M", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->M).", "chr_id": "19", "chr_pos": "15373047", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T222", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs765428584", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765428584" }, { "id": "rs765428584", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765428584" }, { "id": "rs765428584", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs765428584" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 222, "end_pos": 222, "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->P).", "chr_id": "19", "chr_pos": "15373048", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T222", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1359501907", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1359501907" }, { "id": "rs1359501907", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1359501907" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 268, "end_pos": 268, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DST->NST).", "chr_id": "19", "chr_pos": "15372910", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D268", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs867870812", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs867870812" }, { "id": "rs867870812", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs867870812" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 299, "end_pos": 299, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DGT->NGT).", "chr_id": "19", "chr_pos": "15372314", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D299", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs200427700", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200427700" }, { "id": "rs200427700", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs200427700" }, { "id": "rs200427700", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200427700" }, { "id": "rs200427700", "database": "TOPMed", "url": 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"resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O43823", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43823" } ], "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": "O43823", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43823" } ], "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", 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43823" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": 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"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": "O43823", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43823" } ], "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": "O43823", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43823" } ], "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": "O43823", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43823" } ], "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": [ { 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"https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O43823", "url": "https://www.uniprot.org/uniprot/O43823" } ], "common_name": "Human" } ], "gene": [ { "name": "AKAP8", "url": "https://www.uniprot.org/uniprot/O43823", "locus": { "chromosome": "19", "start_pos": 15353385, "end_pos": 15379815, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000105127", "url": "https://www.ensembl.org/id/ENSG00000105127" } ] } } ], "crossref": [ { "id": "ENSG00000105127", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105127", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "O43823", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O43823", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "AKAP8", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKAP8", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "10270", "url": "https://www.ncbi.nlm.nih.gov/gene/10270", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "378", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=378", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "O43823", "url": "https://www.ebi.ac.uk/intact/interactors/id:O43823*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR007071", "url": "https://www.ebi.ac.uk/interpro/entry/IPR007071", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR034736", "url": "https://www.ebi.ac.uk/interpro/entry/IPR034736", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:10270", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:10270", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "604692", "url": "http://www.omim.org/entry/604692", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O43823", "url": "https://www.nextprot.org/entry/NX_O43823", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "O43823", "url": "https://oglcnac.org/atlas/detail/O43823", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "O43823", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O43823", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "CPNRLPS", "url": "https://omabrowser.org/oma/group/CPNRLPS/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "5311990at2759", "url": "http://www.orthodb.org/?query=5311990at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR12190", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR12190", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR12190:SF6", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR12190:SF6", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF04988", "url": "http://pfam.xfam.org/family/PF04988", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O43823", "url": "https://pharos.nih.gov/targets/O43823", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O43823", "url": "http://purl.obolibrary.org/obo/PR_O43823", "database": "PRO", "categories": [ "Protein" ] }, { "id": "NP_005849", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005849", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "A0A7P0T893", "url": "https://www.uniprot.org/uniprot/A0A7P0T893", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7P0T893-1", "url": "https://www.uniprot.org/uniprot/A0A7P0T893-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7P0TAA4", "url": "https://www.uniprot.org/uniprot/A0A7P0TAA4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7P0TAA4-1", "url": "https://www.uniprot.org/uniprot/A0A7P0TAA4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7P0TBC8", "url": "https://www.uniprot.org/uniprot/A0A7P0TBC8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7P0TBC8-1", "url": "https://www.uniprot.org/uniprot/A0A7P0TBC8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "M0QX51", "url": "https://www.uniprot.org/uniprot/M0QX51", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "M0QX51-1", "url": "https://www.uniprot.org/uniprot/M0QX51-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O43823", "url": "https://www.uniprot.org/uniprot/O43823", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O43823-1", "url": "https://www.uniprot.org/uniprot/O43823-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MDQGYGGYGAWSAGPANTQGAYGTGVASWQGYENYNYYGAQNTSVTTGATYSYGPASWEAAKANDGGLAAGAPAMHMASYGPEPCTDNSDSLIAKINQRLDMMSKEGGRGGSGGGGEGIQDRESSFRFQPFESYDSRPCLPEHNPYRPSYSYDYEFDLGSDRNGSFGGQYSECRDPARERGSLDGFMRGRGQGRFQDRSNPGTFMRSDPFVPPAASSEPLSTPWNELNYVGGRGLGGPSPSRPPPSLFSQSMAPDYGVMGMQGAGGYDSTMPYGCGRSQPRMRDRDRPKRRGFDRFGPDGTGRKRKQFQLYEEPDTKLARVDSEGDFSENDDAAGDFRSGDEEFKGEDELCDSGRQRGEKEDEDEDVKKRREKQRRRDRTRDRAADRIQFACSVCKFRSFDDEEIQKHLQSKFHKETLRFISTKLPDKTVEFLQEYIVNRNKKIEKRRQELMEKETAKPKPDPFKGIGQEHFFKKIEAAHCLACDMLIPAQPQLLQRHLHSVDHNHNRRLAAEQFKKTSLHVAKSVLNNRHIVKMLEKYLKGEDPFTSETVDPEMEGDDNLGGEDKKETPEEVAADVLAEVITAAVRAVDGEGAPAPESSGEPAEDEGPTDTAEAGSDPQAEQLLEEQVPCGTAHEKGVPKARSEAAEAGNGAETMAAEAESAQTRVAPAPAAADAEVEQTDAESKDAVPTE", "length": 692, "header": "sp|O43823-1|AKAP8_HUMAN Isoform 1 of A-kinase anchor protein 8 OS=Homo sapiens OX=9606 GN=AKAP8 PE=1 SV=1 CANONICAL=O43823-1" }, "isoforms": [ { "isoform_ac": "A0A7P0T893-1", "url": "", "sequence": { "sequence": "MDQGYGGAYGTGVASWQGYENYNYYGAQNTSVTTGATYSYGPASWEAAKANDGGLAAGAPAMHMASYGPEPCTDNSDSLIAKINQRLDMMSKEGGRGGSGGGGEGIQDRESSFRFQPFESYDSRPCLPEHNPYRPSYSYDYEFDLGSDRNGSFGGQYSECRDPARERGSLDGFMRGRGQGRFQDRSNPGTFMRSDPFVPPAASSEPLSTPWNELNYVGGRGLGGPSPSRPPPSLFSQSMAPDYGVMGMQGAGGYDSTMPYGCGRSQPRMRDRDRPKRRGFDRFGPDGTGRKRKQFQLYEEPDTKLARVDSEGDFSENDDAAGDFRSGDEEFKGEDELCDSGRQRGEKEDEDEDVKKRREKQRRRDRTRDRAADRIQFACSVCKFRSFDDEEIQKHLQSKFHKETLRFISTKLPDKTVEFLQEYIVNRNKKIEKRRQELMEKETAKPKPDPFKGIGQEHFFKKIEAAHCLACDMLIPAQPQLLQRHLHSVDHNHNRRLAAEQFKKTSLHVAKSVLNNRHIVKMLEKYLKGEDPFTSETVDPEMEGDDNLGGEDKKETPEEVAADVLAEVITAAVRAVDGEGAPAPESSGEPAEDEGPTDTAEAGSDPQAEQLLEEQVPCGTAHEKGVPKARSEAAEAGNGAETMAAEAESAQTRVAPAPAAADAEVEQTDAESKDAVPTE", "length": 679, "header": "tr|A0A7P0T893-1|AKAP8_HUMAN Computationally mapped isoform of A-kinase anchor protein 8 OS=Homo sapiens OX=9606 GN=AKAP8 PE=1 SV=1 CANONICAL=O43823-1" }, "locus": { "chromosome": "19", "start_pos": 15379731, "end_pos": 15354918, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000680245.1", "url": "https://www.ensembl.org/id/ENST00000680245.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000504982.1", "url": "https://www.ensembl.org/id/ENSP00000504982.1" } ] } }, { "isoform_ac": "A0A7P0TAA4-1", "url": "", "sequence": { "sequence": "MDQGYGGYGAWSAGPANTQGAYGTGVASWQAPSASSRSSPMTPGPACRSTTPTAPATATTMSSTWGPTAMAALGGSTVNAETQPGSGAPLMASCGAGARAASRTGATLAPSCAATPSCPPLRPLSPCPRPGTS", "length": 133, "header": "tr|A0A7P0TAA4-1|A0A7P0TAA4_HUMAN Computationally mapped isoform of A-kinase anchoring protein 8 OS=Homo sapiens OX=9606 GN=AKAP8 PE=4 SV=1 CANONICAL=O43823-1" }, "locus": { "chromosome": "19", "start_pos": 15379731, "end_pos": 15373033, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000680461.1", "url": "https://www.ensembl.org/id/ENST00000680461.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000506081.1", "url": "https://www.ensembl.org/id/ENSP00000506081.1" } ] } }, { "isoform_ac": "A0A7P0TBC8-1", "url": "", "sequence": { "sequence": "MDQGYGGYGAWSAGPANTQGAYGTGVASWQGYENYNYYGAQNTSVTTGATYSYGPASWEAAKANDGGLAAGAPAMHMASYGPEPCTDNSDSLIAKINQRLDMMSKEGGRGGSGGGGEGIQDRESSFRFQPFESYDSRPCLPEHNPYRPSYSYDYEFDLGSDRNGSFGGQYSECRDPARERGSLDGFMRGRGQGRFQDRSNPGTFMRSDPFVPPAASSEPLSTPWNELNYVGGRGLGGPSPSRPPPSLFSQSMAPDYGVMGMQGAGGYDSTMPYGCGRSQPRMRDRDRPKRRGFDRFGPDGTGRKRKQFQLYEEPDTKLARVDSEGDFSENDDAAGDFRSGDEEFKGEDELCDSGRQRGTCLLQERRRTRTRM", "length": 372, "header": "tr|A0A7P0TBC8-1|AKAP8_HUMAN Computationally mapped isoform of A-kinase anchor protein 8 OS=Homo sapiens OX=9606 GN=AKAP8 PE=1 SV=1 CANONICAL=O43823-1" }, "locus": { "chromosome": "19", "start_pos": 15379731, "end_pos": 15368296, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000681812.1", "url": "https://www.ensembl.org/id/ENST00000681812.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000506597.1", "url": "https://www.ensembl.org/id/ENSP00000506597.1" } ] } }, { "isoform_ac": "M0QX51-1", "url": "", "sequence": { "sequence": "MDQGYGGYGAWSAGPANTQGAYGTGVASWQGYENYNYYGAQNTSVTTGATYSYGPASWEAAKANDGGLAAGAPAMHMASYGPEPCTDNSDSLIAKINQRLDMMSKEGGRGGSGGGGEGIQDRESSFRFQPFESYDSRPCLPEHNPYRPSYSYDYEFDLGSDRNGSFGGQYSECRDPARERGSLDGFMRGRGQGRFQDRSNPGTFMRSDPFVPPAASSEPLSTPWNELNYVGGRGLGGPSPSRPPPSLFSQSMAPDYGVMGMQGAGGYDSTMPYGCGRSQPRMRDRDRPKRRGFDRFGPDGTGRKRKQFQLYEEPDTKLARVDSEGDFSENDDAAGDFRSGDEEFKGEDELCDSGRQRGPATYPG", "length": 364, "header": "tr|M0QX51-1|AKAP8_HUMAN Computationally mapped isoform of A-kinase anchor protein 8 OS=Homo sapiens OX=9606 GN=AKAP8 PE=1 SV=2 CANONICAL=O43823-1" }, "locus": { "chromosome": "19", "start_pos": 15379731, "end_pos": 15369205, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000599883.2", "url": "https://www.ensembl.org/id/ENST00000599883.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000468902.2", "url": "https://www.ensembl.org/id/ENSP00000468902.2" } ] } }, { "isoform_ac": "O43823-1", "url": "", "sequence": { "sequence": "MDQGYGGYGAWSAGPANTQGAYGTGVASWQGYENYNYYGAQNTSVTTGATYSYGPASWEAAKANDGGLAAGAPAMHMASYGPEPCTDNSDSLIAKINQRLDMMSKEGGRGGSGGGGEGIQDRESSFRFQPFESYDSRPCLPEHNPYRPSYSYDYEFDLGSDRNGSFGGQYSECRDPARERGSLDGFMRGRGQGRFQDRSNPGTFMRSDPFVPPAASSEPLSTPWNELNYVGGRGLGGPSPSRPPPSLFSQSMAPDYGVMGMQGAGGYDSTMPYGCGRSQPRMRDRDRPKRRGFDRFGPDGTGRKRKQFQLYEEPDTKLARVDSEGDFSENDDAAGDFRSGDEEFKGEDELCDSGRQRGEKEDEDEDVKKRREKQRRRDRTRDRAADRIQFACSVCKFRSFDDEEIQKHLQSKFHKETLRFISTKLPDKTVEFLQEYIVNRNKKIEKRRQELMEKETAKPKPDPFKGIGQEHFFKKIEAAHCLACDMLIPAQPQLLQRHLHSVDHNHNRRLAAEQFKKTSLHVAKSVLNNRHIVKMLEKYLKGEDPFTSETVDPEMEGDDNLGGEDKKETPEEVAADVLAEVITAAVRAVDGEGAPAPESSGEPAEDEGPTDTAEAGSDPQAEQLLEEQVPCGTAHEKGVPKARSEAAEAGNGAETMAAEAESAQTRVAPAPAAADAEVEQTDAESKDAVPTE", "length": 692, "header": "sp|O43823-1|AKAP8_HUMAN Isoform 1 of A-kinase anchor protein 8 OS=Homo sapiens OX=9606 GN=AKAP8 PE=1 SV=1 CANONICAL=O43823-1" }, "locus": { "chromosome": "19", "start_pos": 15379731, "end_pos": 15354918, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000269701.7", "url": "https://www.ensembl.org/id/ENST00000269701.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000269701.1", "url": "https://www.ensembl.org/id/ENSP00000269701.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 207, "start_aa": "Ser", "end_pos": 207, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser207", "evidence": [ { "id": "O43823", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O43823" }, { "id": "30397120", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30397120" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "35132862", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35132862" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "30620550", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30620550" }, { "id": "32119511", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32119511" }, { "id": "35289036", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35289036" }, { "id": "37340703", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37340703" }, { "id": "O43823", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O43823" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 216, "start_aa": "Ser", "end_pos": 216, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser216", "evidence": [ { 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Mol. Biol.", "date": "2000", "authors": "Herberg F W, Maleszka A, Eide T, Vossebein L, Tasken K", "evidence": [ { "database": "UniProtKB", "id": "O43823", "url": "https://www.uniprot.org/uniprot/O43823" } ], "reference": [ { "type": "PubMed", "id": "10764601", "url": "https://glygen.org/publication/PubMed/10764601" } ] }, { "title": "A kinase-anchoring protein (AKAP)95 recruits human chromosome-associated protein (hCAP)-D2/Eg7 for chromosome condensation in mitotic extract.", "journal": "The Journal of cell biology", "date": "2000", "authors": "Steen RL, Cubizolles F, Le Guellec K, Collas P", "evidence": [ { "database": "UniProtKB", "id": "O43823", "url": "https://www.uniprot.org/uniprot/O43823" } ], "reference": [ { "type": "PubMed", "id": "10791967", "url": "https://glygen.org/publication/PubMed/10791967" } ] }, { "title": "Regulation of anchoring of the RIIalpha regulatory subunit of PKA to AKAP95 by threonine phosphorylation of RIIalpha: implications for chromosome dynamics at mitosis.", "journal": "J. Cell Sci.", "date": "2001", "authors": "Landsverk H B, Carlson C R, Steen R L, Vossebein L, Herberg F W, Task\u00e9n K, Collas P", "evidence": [ { "database": "UniProtKB", "id": "O43823", "url": "https://www.uniprot.org/uniprot/O43823" } ], "reference": [ { "type": "PubMed", "id": "11591814", "url": "https://glygen.org/publication/PubMed/11591814" } ] }, { "title": "Distinct but overlapping domains of AKAP95 are implicated in chromosome condensation and condensin targeting.", "journal": "EMBO reports", "date": "2002", "authors": "Eide T, Carlson C, Tasken KA, Hirano T, Tasken K, Collas P", "evidence": [ { "database": "UniProtKB", "id": "O43823", "url": "https://www.uniprot.org/uniprot/O43823" } ], "reference": [ { "type": "PubMed", "id": "11964380", "url": "https://glygen.org/publication/PubMed/11964380" } ] }, { "title": "Protein kinase A-anchoring protein AKAP95 interacts with MCM2, a regulator of DNA replication.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Eide T, Tasken KA, Carlson C, Williams G, Jahnsen T, Tasken K, Collas P", "evidence": [ { "database": "UniProtKB", "id": "O43823", "url": "https://www.uniprot.org/uniprot/O43823" } ], "reference": [ { "type": "PubMed", "id": "12740381", "url": "https://glygen.org/publication/PubMed/12740381" } ] }, { "title": "A novel partner for D-type cyclins: protein kinase A-anchoring protein AKAP95.", "journal": "The Biochemical journal", "date": "2004", "authors": "Arsenijevic T, Degraef C, Dumont JE, Roger PP, Pirson I", "evidence": [ { "database": "UniProtKB", "id": "O43823", "url": "https://www.uniprot.org/uniprot/O43823" } ], "reference": [ { "type": "PubMed", "id": "14641107", "url": "https://glygen.org/publication/PubMed/14641107" } ] }, { "title": "Large-scale characterization of HeLa cell nuclear phosphoproteins.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2004", "authors": "Beausoleil SA, Jedrychowski M, Schwartz D, Elias JE, Villen J, Li J, Cohn MA, Cantley LC, Gygi SP", "evidence": [ { "database": "iPTMnet", "id": "O43823", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43823" } ], "reference": [ { "type": "PubMed", "id": "15302935", "url": "https://glygen.org/publication/PubMed/15302935" } ] }, { "title": "A-kinase anchoring proteins interact with phosphodiesterases in T lymphocyte cell lines.", "journal": "J. Immunol.", "date": "2004", "authors": "Asirvatham Angela L, Galligan Sarah G, Schillace Robynn V, Davey Michael P, Vasta Valeria, Beavo Joseph A, Carr Daniel W", "evidence": [ { "database": "UniProtKB", "id": "O43823", "url": "https://www.uniprot.org/uniprot/O43823" } ], "reference": [ { "type": "PubMed", "id": "15470020", "url": "https://glygen.org/publication/PubMed/15470020" } ] }, { "title": "A-kinase-anchoring protein 95 functions as a potential carrier for the nuclear translocation of active caspase 3 through an enzyme-substrate-like association.", "journal": "Molecular and cellular biology", "date": "2005", "authors": "Kamada S, Kikkawa U, Tsujimoto Y, Hunter T", "evidence": [ { "database": "UniProtKB", "id": "O43823", "url": "https://www.uniprot.org/uniprot/O43823" } ], "reference": [ { "type": "PubMed", "id": "16227597", "url": "https://glygen.org/publication/PubMed/16227597" } ] }, { "title": "The consensus coding sequences of human breast and colorectal cancers.", "journal": "Science (New York, N.Y.)", "date": "2006", "authors": "Sjoblom T, Jones S, Wood LD, Parsons DW, Lin J, Barber TD, Mandelker D, Leary RJ, Ptak J, Silliman N, Szabo S, Buckhaults P, Farrell C, Meeh P, Markowitz SD, Willis J, Dawson D, Willson JK, Gazdar AF, Hartigan J, Wu L, Liu C, Parmigiani G, Park BH, Bachman KE, Papadopoulos N, Vogelstein B, Kinzler KW, Velculescu VE", "evidence": [ { "database": "UniProtKB", "id": "O43823", "url": "https://www.uniprot.org/uniprot/O43823" } ], "reference": [ { "type": "PubMed", "id": "16959974", "url": "https://glygen.org/publication/PubMed/16959974" } ] }, { "title": "A probability-based approach for high-throughput protein phosphorylation analysis and site localization.", "journal": "Nature biotechnology", "date": "2006", "authors": "Beausoleil SA, Villen J, Gerber SA, Rush J, Gygi SP", "evidence": [ { "database": "iPTMnet", "id": "O43823", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43823" } ], "reference": [ { "type": "PubMed", "id": "16964243", "url": "https://glygen.org/publication/PubMed/16964243" } ] }, { "title": "A novel histone deacetylase pathway regulates mitosis by modulating Aurora B kinase activity.", "journal": "Genes & development", "date": "2006", "authors": "Li Y, Kao GD, Garcia BA, Shabanowitz J, Hunt DF, Qin J, Phelan C, Lazar MA", "evidence": [ { "database": "UniProtKB", "id": "O43823", "url": "https://www.uniprot.org/uniprot/O43823" } ], "reference": [ { "type": "PubMed", "id": "16980585", "url": "https://glygen.org/publication/PubMed/16980585" } ] }, { "title": "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.", "journal": "Cell", "date": "2006", "authors": "Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M", "evidence": [ { "database": "UniProtKB", "id": "O43823", "url": "https://www.uniprot.org/uniprot/O43823" }, { "database": "iPTMnet", "id": "O43823", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43823" } ], "reference": [ { "type": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" } ] }, { "title": "Phosphopeptide enrichment by aliphatic hydroxy acid-modified metal oxide chromatography for nano-LC-MS/MS in proteomics applications.", "journal": "Molecular & cellular proteomics : MCP", "date": "2007", "authors": "Sugiyama N, Masuda T, Shinoda K, Nakamura A, Tomita M, Ishihama Y", "evidence": [ { "database": "iPTMnet", "id": "O43823", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43823" } ], "reference": [ { "type": "PubMed", "id": "17322306", "url": "https://glygen.org/publication/PubMed/17322306" } ] }, { "title": "Motif-specific sampling of phosphoproteomes.", "journal": "Journal of proteome research", "date": "2008", "authors": "Ruse CI, McClatchy DB, Lu B, Cociorva D, Motoyama A, Park SK, Yates JR 3rd", "evidence": [ { "database": "iPTMnet", "id": "O43823", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43823" } ], 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Transduction in Colon Cancer.", "journal": "Analytical cellular pathology (Amsterdam)", "date": "2023", "authors": "Kong Xiangyu, An Putian, Xu Junping, Liu Wenzhi, Lin Feng, Yang Yulong", "evidence": [ { "database": "RefSeq", "id": "NP_005849", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005849" } ], "reference": [ { "type": "PubMed", "id": "36691407", "url": "https://glygen.org/publication/PubMed/36691407" } ] }, { "title": "`Two Birds One Stone` Strategy for the Site-Specific Analysis of Core Fucosylation and O-GlcNAcylation.", "journal": "Journal of the American Chemical Society", "date": "2023-07-26", "authors": "Luo Yawen, Wang Yuqiu, Tian Yinping, Zhou Hu, Wen Liuqing", "evidence": [ { "database": "O-GlcNAc Database", "id": "O43823", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O43823" } ], "reference": [ { "type": "PubMed", "id": "37340703", "url": "https://glygen.org/publication/PubMed/37340703" } ] }, { "title": "Molecular cloning, chromosomal localization, and cell cycle-dependent subcellular distribution of the A-kinase anchoring protein, AKAP95.", "journal": "Experimental cell research", "date": "1998", "authors": "Eide T, Coghlan V, Orstavik S, Holsve C, Solberg R, Skalhegg BS, Lamb NJ, Langeberg L, Fernandez A, Scott JD, Jahnsen T, Tasken K", "evidence": [ { "database": "UniProtKB", "id": "O43823", "url": "https://www.uniprot.org/uniprot/O43823" } ], "reference": [ { "type": "PubMed", "id": "9473338", "url": "https://glygen.org/publication/PubMed/9473338" } ] } ], "pathway": [ { "id": "hsa:10270", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:10270", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "Q63014-1", "protein_name": "A-kinase anchor protein 8", "gene_name": "Akap8", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MEQSYGGYGAWSAGPANTQGTYGSGVASWQGYENYSYYNAQNTSVPTGTPYSYGPASWEATKASDGGLAAGSSAMHVASFAPEPCTDNSDSLIAKINQRLDMLSKEGGRGGISSGGEGMQDRDSSFRFQPYESYDSRPCMPEHTPYRPSYSYDYDFDLGTDRNGSFGGTFNDCRDPTPERGALDGFLRGRGQGRFQDRSNSSTFIRSDPFMPPSASSEPLSTTWSELNYMGGRGLGGPSTNRPPPSLFSQSMAPDYSMMGMQGVGGFGGTMPYGCGRSQTRIRDWPRRRGFERFGPDNMGRKRKPFPLYEEPDAKLARADSEGDLSENDDGAGDLRSGDEEFRGEDDLCDSRKQRGEKEDEDEDVKKRREKQRRRDRMRDRAADRIQFACSVCKFRSFEDEEIQKHLQSKFHKETLRFISTKLPDKTVEFLQEYIINRNKKIEKRRQELLEKESPKPKPDPFKGIGQEHFFKRIEAAHCLACDMLIPAQHQLLQRHLHSVDHNHNRRLAAEQFKKTSLHVAKSVLNNKHIVKMLEKYLKGEDPFVNETADLETEGDENLGEEKETPEEVAAEVLAEVITAAVKAVEGDGEPAAEHSDVLAEVEGPVDTAEAGSDSHTGKLLEEQTCETASETRNMEDMARGEAAEARNEAAVPAAAAGSPVPVIAIPGILEDELEQTDAEAKDTPTE", "length": 687 }, "evidence": [ { "id": "45932852", "url": "http://www.informatics.jax.org/homology/45932852", "database": "MGI" }, { "id": "O43823", "url": "https://omabrowser.org/oma/group/O43823/", "database": "OMA" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q9DBR0-1", "protein_name": "A-kinase anchor protein 8", "gene_name": "Akap8", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MEQGYGGYGAWSAGPANTQGTYGSGMTSWQGYENYNYYNAQNTSVPAGTPYSYGPASWEATKTNDGGLAAGSPAMHVASFAPEPCTDNSDSLIAKINQRLDMLSKEGGRGGISSGGEGVQDRDSSFRFQPYESYDARPCIPEHNPYRPGYGYDYDFDLGTDRNGSFGGTFNDCRDPAPERGSLDGFLRGRGQGRFQDRSNSSTFIRSDPFMPPSASEPLSTTWNELNYMGGRGLGGPSTSRPPPSLFSQSMAPDYSMMGMQGVGGFGGTMPYGCGRSQTRIRDWPRRRGFERFGPDNMGRKRKQFPLYEEPDAKLARADSDGDLSENDDGAGDLRSGDEEFRGEDDLCDSRKQRGEKEDEDEDVKKRREKQRRRDRMRDRAADRIQFACSVCKFRSFEDEEIQKHLQSKFHKETLRFISTKLPDKTVEFLQEYIINRNKKIEKRRQELLEKESPKPKPDPFKGIGQEHFFKKIEAAHCLACDMLIPAQHQLLQRHLHSVDHNHNRRLAAEQFKKTSLHVAKSVLNNKHIVKMLEKYLKGEDPFVNETADLETEGDENVGEEKEETPEEVAAEVLAEVITAAVKAVEGEGEPAAAHSDVLTEVEGPVDTAEASSDPHTEKLLEEQTCEAASETRSIEDKTRGEAAEARNEAAMPTADAGSTLPVIAIPGIMEDELEQTGAEAKDIPTE", "length": 687 }, "evidence": [ { "id": "45932852", "url": "http://www.informatics.jax.org/homology/45932852", "database": "MGI" }, { "id": "O43823", "url": "https://omabrowser.org/oma/group/O43823/", "database": "OMA" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 7, "go_terms": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "O43823", "url": "https://www.uniprot.org/uniprot/O43823" } ], "pmid": "" }, { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "O43823", "url": "https://www.uniprot.org/uniprot/O43823" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "O43823", "url": "https://www.uniprot.org/uniprot/O43823" } ], "pmid": "" }, { "name": "histone deacetylase binding", "id": "GO:0042826", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042826", "evidence": [ { "database": "UniProtKB", "id": "O43823", "url": "https://www.uniprot.org/uniprot/O43823" } ], "pmid": "" }, { "name": "double-stranded DNA binding", "id": "GO:0003690", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003690", "evidence": [ { "database": "UniProtKB", "id": "O43823", "url": "https://www.uniprot.org/uniprot/O43823" } ], "pmid": "" }, { "name": "protein kinase A regulatory subunit binding", "id": "GO:0034237", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034237", "evidence": [ { "database": "UniProtKB", "id": "O43823", "url": "https://www.uniprot.org/uniprot/O43823" } ], "pmid": "" }, { "name": "NF-kappaB binding", "id": "GO:0051059", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051059", "evidence": [ { "database": "UniProtKB", "id": "O43823", "url": "https://www.uniprot.org/uniprot/O43823" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 8, "go_terms": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "O43823", "url": "https://www.uniprot.org/uniprot/O43823" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "O43823", "url": "https://www.uniprot.org/uniprot/O43823" } ], "pmid": "" }, { "name": "nuclear matrix", "id": "GO:0016363", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016363", "evidence": [ { "database": "UniProtKB", "id": "O43823", "url": "https://www.uniprot.org/uniprot/O43823" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "O43823", "url": "https://www.uniprot.org/uniprot/O43823" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "O43823", "url": "https://www.uniprot.org/uniprot/O43823" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "O43823", "url": "https://www.uniprot.org/uniprot/O43823" } ], "pmid": "" }, { "name": "condensed chromosome", "id": "GO:0000793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000793", "evidence": [ { "database": "UniProtKB", "id": "O43823", "url": "https://www.uniprot.org/uniprot/O43823" } ], "pmid": "" }, { "name": "female pronucleus", "id": "GO:0001939", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001939", "evidence": [ { "database": "UniProtKB", "id": "O43823", "url": "https://www.uniprot.org/uniprot/O43823" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 9, "go_terms": [ { "name": "mitotic cell cycle", "id": "GO:0000278", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000278", "evidence": [ { "database": "UniProtKB", "id": "O43823", "url": "https://www.uniprot.org/uniprot/O43823" } ], "pmid": "" }, { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "O43823", "url": "https://www.uniprot.org/uniprot/O43823" } ], "pmid": "" }, { "name": "protein transport", "id": "GO:0015031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015031", "evidence": [ { "database": "UniProtKB", "id": "O43823", "url": "https://www.uniprot.org/uniprot/O43823" } ], "pmid": "" }, { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "O43823", "url": "https://www.uniprot.org/uniprot/O43823" } ], "pmid": "" }, { "name": "negative regulation of tumor necrosis factor production", "id": "GO:0032720", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032720", "evidence": [ { "database": "UniProtKB", "id": "O43823", "url": "https://www.uniprot.org/uniprot/O43823" } ], "pmid": "" }, { "name": "cellular response to lipopolysaccharide", "id": "GO:0071222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071222", "evidence": [ { "database": "UniProtKB", "id": "O43823", "url": "https://www.uniprot.org/uniprot/O43823" } ], "pmid": "" }, { "name": "cellular response to prostaglandin E stimulus", "id": "GO:0071380", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071380", "evidence": [ { "database": "UniProtKB", "id": "O43823", "url": "https://www.uniprot.org/uniprot/O43823" } ], "pmid": "" }, { "name": "mitotic chromosome condensation", "id": "GO:0007076", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007076", "evidence": [ { "database": "UniProtKB", "id": "O43823", "url": "https://www.uniprot.org/uniprot/O43823" } ], "pmid": "" }, { "name": "cell cycle G2/M phase transition", "id": "GO:0044839", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044839", "evidence": [ { "database": "UniProtKB", "id": "O43823", "url": "https://www.uniprot.org/uniprot/O43823" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 163, "end_pos": 165, "annotation": "n_glycosylation_sequon" }, { "start_pos": 42, "end_pos": 44, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [ { "annotation": "Phosphorylated on tyrosine residues probably by SRC subfamily protein kinases; multiple phosphorylation is leading to dissociation from nuclear structures implicated in chromatin structural changes.", "evidence": [ { "database": "UniProtKB", "id": "O43823", "url": "https://www.uniprot.org/uniprot/O43823" }, { "database": "PubMed", "id": "25770215", "url": "https://glygen.org/publication/PubMed/25770215" } ] } ], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "sequence_features": { "n_linked_sites": [], "o_linked_sites": [ 207, 216, 217, 221, 222 ], "snv_sites": [ 36, 49, 87, 197, 207, 216, 217, 221, 222, 268, 299, 427, 443, 497, 507, 653 ], "glycation_sites": [], "phosphorylation_sites": [ 112, 199, 323, 328, 339, 662, 685 ], "sequon_annotation_sites": [ { "start_pos": 163, "end_pos": 165 }, { "start_pos": 42, "end_pos": 44 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 6 }, { "field": "total_sites", "count": 5 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 2 }, { "field": "o_linked_glycan_sites", "count": 5 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": 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"n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 7 }, { "field": "total_sites", "count": 7 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 17 }, { "field": "total_sites", "count": 16 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", 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