{ "uniprot_canonical_ac": "O00212-1", "uniprot_ac": "O00212", "uniprot_id": "RHOD_HUMAN", "mass": { "chemical_mass": 23466.0, "monoisotopic_mass": 23466.0 }, "refseq": { "ac": "NP_055393", "name": "rho-related GTP-binding protein RhoD isoform 1", "summary": "Ras homolog, or Rho, proteins interact with protein kinases and may serve as targets for activated GTPase. They play a critical role in muscle differentiation. The protein encoded by this gene binds GTP and is a member of the small GTPase superfamily. It is involved in endosome dynamics and reorganization of the actin cytoskeleton, and it may coordinate membrane transport with the function of the cytoskeleton. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055393" }, "gene_names": [ { "name": "RHOD", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O00212", "id": "O00212" }, { "name": "ARHD; Rho; RHOHP1; RHOM", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055393", "id": "NP_055393" }, { "name": "ARHD", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O00212", "id": "O00212" }, { "name": "RHOD", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055393", "id": "NP_055393" } ], "protein_names": [ { "name": "Rho-related GTP-binding protein RhoD", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O00212" }, { "name": "Rho-related protein HP1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00212" }, { "name": "RhoHP1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00212" }, { "name": "ras homolog gene family, member A; Rho-related protein HP1; Rho-related GTP-binding protein RhoD; ras homolog D; ras homolog gene family, member D", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055393", "id": "NP_055393" }, { "name": "rho-related GTP-binding protein RhoD isoform 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055393", "id": "NP_055393" } ], "function": [ { "annotation": "Involved in endosome dynamics. May coordinate membrane transport with the function of the cytoskeleton. Involved in the internalization and trafficking of activated tyrosine kinase receptors such as PDGFRB. Participates in the reorganization of actin cytoskeleton; the function seems to involve WHAMM and includes regulation of filopodia formation and actin filament bundling. Can modulate the effect of DAPK3 in reorganization of actin cytoskeleton and focal adhesion dissolution.", "evidence": [ { "database": "UniProtKB", "id": "O00212", "url": "https://www.uniprot.org/uniprot/O00212#function" }, { "database": "PubMed", "id": "24102721", "url": "https://glygen.org/publication/PubMed/24102721" }, { "database": "PubMed", "id": "23454120", "url": "https://glygen.org/publication/PubMed/23454120" }, { "database": "PubMed", "id": "23087206", "url": "https://glygen.org/publication/PubMed/23087206" } ] }, { "annotation": "Ras homolog, or Rho, proteins interact with protein kinases and may serve as targets for activated GTPase. They play a critical role in muscle differentiation. The protein encoded by this gene binds GTP and is a member of the small GTPase superfamily. It is involved in endosome dynamics and reorganization of the actin cytoskeleton, and it may coordinate membrane transport with the function of the cytoskeleton. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014].", "evidence": [ { "database": "RefSeq", "id": "NP_055393", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055393" } ] }, { "annotation": "Rho GTPase gene expression and breast cancer risk: a Mendelian randomization analysis. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_055393", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055393" }, { "database": "PubMed", "id": "35087170", "url": "https://glygen.org/publication/PubMed/35087170" } ] }, { "annotation": "RhoD recruits Pak6 to the plasma membrane to antagonize RhoC signaling during cell contraction and blebbing", "evidence": [ { "database": "RefSeq", "id": "NP_055393", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055393" }, { "database": "PubMed", "id": "28486133", "url": "https://glygen.org/publication/PubMed/28486133" } ] }, { "annotation": "RhoD silencing leads to increased actin filament-containing structures and disruption of cell migration and proliferation.", "evidence": [ { "database": "RefSeq", "id": "NP_055393", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055393" }, { "database": "PubMed", "id": "28196728", "url": "https://glygen.org/publication/PubMed/28196728" } ] }, { "annotation": "The GTPase deficient atypical Rho GTPases, which have a stalled GTPase activity, RhoD has an elevated intrinsic GDP/GTP exchange activity, rendering the protein constitutively active.", "evidence": [ { "database": "RefSeq", "id": "NP_055393", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055393" }, { "database": "PubMed", "id": "29776664", "url": "https://glygen.org/publication/PubMed/29776664" } ] }, { "annotation": "The actin nucleation factors JMY and WHAMM enable a rapid Arp2/3 complex-mediated intrinsic pathway of apoptosis. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_055393", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055393" }, { "database": "PubMed", "id": "33872315", "url": "https://glygen.org/publication/PubMed/33872315" } ] } ], "disease": [], "snv": [], "mutagenesis": [ { "start_pos": 207, "end_pos": 207, "sequence_org": "C", "sequence_mut": "S", "comment": "Abolishes endosomal localization.", "evidence": [ { "database": "UniProtKB", "id": "O00212", "url": "https://www.uniprot.org/uniprot/O00212" }, { "database": "PubMed", "id": "23454120", "url": "https://glygen.org/publication/PubMed/23454120" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "83.13", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000173156", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000173156" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "88.65", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000173156", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000173156" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "75.33", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000173156", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000173156" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "71.8", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000173156", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000173156" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "79.35", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000173156", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000173156" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "68.41", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000173156", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000173156" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "66.87", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000173156", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000173156" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "75.8", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000173156", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000173156" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "85.94", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000173156", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000173156" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "66.49", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000173156", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000173156" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "87.56", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000173156", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000173156" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "86.21", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000173156", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000173156" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "83.3", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000173156", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000173156" } ] } ], "expression_disease": [ { "significant": "No", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O00212", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00212" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": 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"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": 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"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": 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"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, 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"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": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O00212", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00212" } ], "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": "" }, { 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"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": 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"http://research.bioinformatics.udel.edu/iptmnet/entry/O00212" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "phospho.ELM", "id": "O00212", "url": "http://phospho.elm.eu.org/byAccession/O00212.html" } ], "site_lbl": "Ser17" } ], "glycation": [], "keywords": [], "publication": [ { "title": "X-ray structure determination of human profilin II: A comparative structural analysis of human profilins.", "journal": "Journal of molecular biology", "date": "1999", "authors": "Nodelman IM, Bowman GD, Lindberg U, Schutt CE", "evidence": [ { "database": "Reactome", "id": "R-HSA-5663220", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5663220" } ], "reference": [ { "type": "PubMed", "id": "10600384", "url": "https://glygen.org/publication/PubMed/10600384" } ] }, { "title": "Diaphanous-related formins bridge Rho GTPase and Src tyrosine kinase signaling.", "journal": "Molecular cell", "date": "2000", "authors": "Tominaga T, Sahai E, Chardin P, McCormick F, Courtneidge SA, Alberts AS", "evidence": [ { "database": "Reactome", "id": "R-HSA-5663220", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5663220" } ], "reference": [ { "type": "PubMed", "id": "10678165", "url": "https://glygen.org/publication/PubMed/10678165" } ] }, { "title": "FRL, a novel formin-related protein, binds to Rac and regulates cell motility and survival of macrophages.", "journal": "Molecular and cellular biology", "date": "2000", "authors": "Yayoshi-Yamamoto S, Taniuchi I, Watanabe T", "evidence": [ { "database": "Reactome", "id": "R-HSA-5663220", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5663220" } ], "reference": [ { "type": "PubMed", "id": "10958683", "url": "https://glygen.org/publication/PubMed/10958683" } ] }, { "title": "Antagonistic effects of Rnd1 and RhoD GTPases regulate receptor activity in Semaphorin 3A-induced cytoskeletal collapse.", "journal": "The Journal of neuroscience : the official journal of the Society for Neuroscience", "date": "2002", "authors": "Zanata SM, Hovatta I, Rohm B, Puschel AW", "evidence": [ { "database": "Reactome", "id": "R-HSA-9013405", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013405" } ], "reference": [ { "type": "PubMed", "id": "11784792", "url": "https://glygen.org/publication/PubMed/11784792" } ] }, { "title": "The diaphanous-related formin mDia1 controls serum response factor activity through its effects on actin polymerization.", "journal": "Molecular biology of the cell", "date": "2002", "authors": "Copeland JW, Treisman R", "evidence": [ { "database": "Reactome", "id": "R-HSA-5663220", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5663220" } ], "reference": [ { "type": "PubMed", "id": "12429848", "url": "https://glygen.org/publication/PubMed/12429848" } ] }, { "title": "RhoD regulates endosome dynamics through diaphanous-related formin and Src tyrosine kinase.", "journal": "Nat. Cell Biol.", "date": "2003", "authors": "Gasman S, Kalaidzidis Y, Zerial M", "evidence": [ { "database": "UniProtKB", "id": "O00212", "url": "https://www.uniprot.org/uniprot/O00212" }, { "database": "Reactome", "id": "R-HSA-5663220", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5663220" } ], "reference": [ { "type": "PubMed", "id": "12577064", "url": "https://glygen.org/publication/PubMed/12577064" } ] }, { "title": "Actin dynamics control SRF activity by regulation of its coactivator MAL.", "journal": "Cell", "date": "2003", "authors": "Miralles F, Posern G, Zaromytidou AI, Treisman R", "evidence": [ { "database": "Reactome", "id": "R-HSA-5663220", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5663220" } ], "reference": [ { "type": "PubMed", "id": "12732141", "url": "https://glygen.org/publication/PubMed/12732141" } ] }, { "title": "A role for VASP in RhoA-Diaphanous signalling to actin dynamics and SRF activity.", "journal": "The EMBO journal", "date": "2003", "authors": "Grosse R, Copeland JW, Newsome TP, Way M, Treisman R", "evidence": [ { "database": "Reactome", "id": "R-HSA-5663220", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5663220" } ], "reference": [ { "type": "PubMed", "id": "12805219", "url": "https://glygen.org/publication/PubMed/12805219" } ] }, { "title": "Crystal structures of a Formin Homology-2 domain reveal a tethered dimer architecture.", "journal": "Cell", "date": "2004", "authors": "Xu Y, Moseley JB, Sagot I, Poy F, Pellman D, Goode BL, Eck MJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-5663220", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5663220" } ], "reference": [ { "type": "PubMed", "id": "15006353", "url": "https://glygen.org/publication/PubMed/15006353" } ] }, { "title": "Cdc42 and mDia3 regulate microtubule attachment to kinetochores.", "journal": "Nature", "date": "2004", "authors": "Yasuda S, Oceguera-Yanez F, Kato T, Okamoto M, Yonemura S, Terada Y, Ishizaki T, Narumiya S", "evidence": [ { "database": "Reactome", "id": "R-HSA-5663220", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5663220" } ], "reference": [ { "type": "PubMed", "id": "15085137", "url": "https://glygen.org/publication/PubMed/15085137" } ] }, { "title": "Formin is a processive motor that requires profilin to accelerate actin assembly and associated ATP hydrolysis.", "journal": "Cell", "date": "2004", "authors": "Romero S, Le Clainche C, Didry D, Egile C, Pantaloni D, Carlier MF", "evidence": [ { "database": "Reactome", "id": "R-HSA-5663220", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5663220" } ], "reference": [ { "type": "PubMed", "id": "15507212", "url": "https://glygen.org/publication/PubMed/15507212" } ] }, { "title": "Structural and mechanistic insights into the interaction between Rho and mammalian Dia.", "journal": "Nature", "date": "2005", "authors": "Rose R, Weyand M, Lammers M, Ishizaki T, Ahmadian MR, Wittinghofer A", "evidence": [ { "database": "Reactome", "id": "R-HSA-5663220", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5663220" } ], "reference": [ { "type": "PubMed", "id": "15864301", "url": "https://glygen.org/publication/PubMed/15864301" } ] }, { "title": "Structural basis of Rho GTPase-mediated activation of the formin mDia1.", "journal": "Molecular cell", "date": "2005", "authors": "Otomo T, Otomo C, Tomchick DR, Machius M, Rosen MK", "evidence": [ { "database": "Reactome", "id": "R-HSA-5663220", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5663220" } ], "reference": [ { "type": "PubMed", "id": "15866170", "url": "https://glygen.org/publication/PubMed/15866170" } ] }, { "title": "RhoB regulates endosome transport by promoting actin assembly on endosomal membranes through Dia1.", "journal": "Journal of cell science", "date": "2005", "authors": "Fernandez-Borja M, Janssen L, Verwoerd D, Hordijk P, Neefjes J", "evidence": [ { "database": "Reactome", "id": "R-HSA-5663220", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5663220" } ], "reference": [ { "type": "PubMed", "id": "15944396", "url": "https://glygen.org/publication/PubMed/15944396" } ] }, { "title": "The regulation of mDia1 by autoinhibition and its release by Rho*GTP.", "journal": "The EMBO journal", "date": "2005", "authors": "Lammers M, Rose R, Scrima A, Wittinghofer A", "evidence": [ { "database": "Reactome", "id": "R-HSA-5663220", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5663220" } ], "reference": [ { "type": "PubMed", "id": "16292343", "url": "https://glygen.org/publication/PubMed/16292343" } ] }, { "title": "Control of the assembly of ATP- and ADP-actin by formins and profilin.", "journal": "Cell", "date": "2006", "authors": "Kovar DR, Harris ES, Mahaffy R, Higgs HN, Pollard TD", "evidence": [ { "database": "Reactome", "id": "R-HSA-5663220", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5663220" } ], "reference": [ { "type": "PubMed", "id": "16439214", "url": "https://glygen.org/publication/PubMed/16439214" } ] }, { "title": "The human CENP-A centromeric nucleosome-associated complex.", "journal": "Nature cell biology", "date": "2006", "authors": "Foltz DR, Jansen LE, Black BE, Bailey AO, Yates JR 3rd, Cleveland DW", "evidence": [ { "database": "Reactome", "id": "R-HSA-5663220", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5663220" } ], "reference": [ { "type": "PubMed", "id": "16622419", "url": "https://glygen.org/publication/PubMed/16622419" } ] }, { "title": "The CENP-H-I complex is required for the efficient incorporation of newly synthesized CENP-A into centromeres.", "journal": "Nature cell biology", "date": "2006", "authors": "Okada M, Cheeseman IM, Hori T, Okawa K, McLeod IX, Yates JR 3rd, Desai A, Fukagawa T", "evidence": [ { "database": "Reactome", "id": "R-HSA-5663220", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5663220" } ], "reference": [ { "type": "PubMed", "id": "16622420", "url": 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"https://glygen.org/publication/PubMed/17030981" } ] }, { "title": "Multiple Rho proteins regulate the subcellular targeting of PAK5.", "journal": "Biochem. Biophys. Res. Commun.", "date": "2006", "authors": "Wu X, Frost JA", "evidence": [ { "database": "UniProtKB", "id": "O00212", "url": "https://www.uniprot.org/uniprot/O00212" }, { "database": "Reactome", "id": "R-HSA-9013405", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013405" } ], "reference": [ { "type": "PubMed", "id": "17064668", "url": "https://glygen.org/publication/PubMed/17064668" } ] }, { "title": "The conserved KMN network constitutes the core microtubule-binding site of the kinetochore.", "journal": "Cell", "date": "2006", "authors": "Cheeseman IM, Chappie JS, Wilson-Kubalek EM, Desai A", "evidence": [ { "database": "Reactome", "id": "R-HSA-5663220", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5663220" } ], "reference": [ { "type": "PubMed", "id": "17129783", "url": "https://glygen.org/publication/PubMed/17129783" } ] }, { "title": "RhoB and the mammalian Diaphanous-related formin mDia2 in endosome trafficking.", "journal": "Experimental cell research", "date": "2007", "authors": "Wallar BJ, Deward AD, Resau JH, Alberts AS", "evidence": [ { "database": "Reactome", "id": "R-HSA-5663220", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5663220" } ], "reference": [ { "type": "PubMed", "id": "17198702", "url": "https://glygen.org/publication/PubMed/17198702" } ] }, { "title": "Profilin-actin complexes directly elongate actin filaments at the barbed end.", "journal": "Biochemistry", "date": "1992", "authors": "Pring M, Weber A, Bubb MR", "evidence": [ { "database": "Reactome", "id": "R-HSA-5663220", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5663220" } ], "reference": [ { "type": "PubMed", "id": "1737036", "url": "https://glygen.org/publication/PubMed/1737036" } ] }, { "title": "Binding of Rac1, Rnd1, and RhoD to a novel Rho GTPase interaction motif destabilizes dimerization of the plexin-B1 effector domain.", "journal": "The Journal of biological chemistry", "date": "2007", "authors": "Tong Y, Chugha P, Hota PK, Alviani RS, Li M, Tempel W, Shen L, Park HW, Buck M", "evidence": [ { "database": "Reactome", "id": "R-HSA-9013405", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013405" } ], "reference": [ { "type": "PubMed", "id": "17916560", "url": "https://glygen.org/publication/PubMed/17916560" } ] }, { "title": "High-resolution structural analysis of mammalian profilin 2a complex formation with two physiological ligands: the formin homology 1 domain of mDia1 and the proline-rich domain of VASP.", "journal": "Journal of molecular biology", "date": "2008", "authors": "Kursula P, Kursula I, Massimi M, Song YH, Downer J, Stanley WA, Witke W, Wilmanns M", "evidence": [ { "database": "Reactome", "id": "R-HSA-5663220", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5663220" } ], "reference": [ { "type": "PubMed", "id": "18001770", "url": "https://glygen.org/publication/PubMed/18001770" } ] }, { "title": "Molecular architecture of the kinetochore-microtubule interface.", "journal": "Nature reviews. Molecular cell biology", "date": "2008", "authors": "Cheeseman IM, Desai A", "evidence": [ { "database": "Reactome", "id": "R-HSA-5663220", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5663220" } ], "reference": [ { "type": "PubMed", "id": "18097444", "url": "https://glygen.org/publication/PubMed/18097444" } ] }, { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "iPTMnet", "id": "O00212", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00212" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Clustering of VASP actively drives processive, WH2 domain-mediated actin filament elongation.", "journal": "The EMBO journal", "date": "2008", "authors": "Breitsprecher D, Kiesewetter AK, Linkner J, Urbanke C, Resch GP, Small JV, Faix J", "evidence": [ { "database": "Reactome", "id": "R-HSA-5663220", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5663220" } ], "reference": [ { "type": "PubMed", "id": "18923426", "url": "https://glygen.org/publication/PubMed/18923426" } ] }, { "title": "SCAI acts as a suppressor of cancer cell invasion through the transcriptional control of beta1-integrin.", "journal": "Nature cell biology", "date": "2009", "authors": "Brandt DT, Baarlink C, Kitzing TM, Kremmer E, Ivaska J, Nollau P, Grosse R", "evidence": [ { "database": "Reactome", "id": "R-HSA-5663220", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5663220" } ], "reference": [ { "type": "PubMed", "id": "19350017", "url": "https://glygen.org/publication/PubMed/19350017" } ] }, { "title": "Formin-like 1 (FMNL1) is regulated by N-terminal myristoylation and induces polarized membrane blebbing.", "journal": "The Journal of biological chemistry", "date": "2009", "authors": "Han Y, Eppinger E, Schuster IG, Weigand LU, Liang X, Kremmer E, Peschel C, Krackhardt AM", "evidence": [ { "database": "Reactome", "id": "R-HSA-5663220", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5663220" } ], "reference": [ { "type": "PubMed", "id": "19815554", "url": "https://glygen.org/publication/PubMed/19815554" } ] }, { "title": "[PI3-kinase mediates activity of RhoA and interaction of RhoA with mDia1 in thrombin-induced platelet aggregation].", "journal": "Zhongguo shi yan xue ye xue za zhi", "date": "2009", "authors": "Gao GX, Dong HJ, Gu HT, Gao Y, Pan YZ, Yang Y, Chen XQ", "evidence": [ { "database": "Reactome", "id": "R-HSA-5663220", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5663220" } ], "reference": [ { "type": "PubMed", "id": "20030946", "url": "https://glygen.org/publication/PubMed/20030946" } ] }, { "title": "Formin-like 2 drives amoeboid invasive cell motility downstream of RhoC.", "journal": "Oncogene", "date": "2010", "authors": "Kitzing TM, Wang Y, Pertz O, Copeland JW, Grosse R", "evidence": [ { "database": "Reactome", "id": "R-HSA-5663220", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5663220" } ], "reference": [ { "type": "PubMed", "id": "20101212", "url": "https://glygen.org/publication/PubMed/20101212" } ] }, { "title": "RhoA and DIAPH1 mediate adrenocorticotropin-stimulated cortisol biosynthesis by regulating mitochondrial trafficking.", "journal": "Endocrinology", "date": "2010", "authors": "Li D, Sewer MB", "evidence": [ { "database": "Reactome", "id": "R-HSA-5663220", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5663220" } ], "reference": [ { "type": "PubMed", "id": "20591975", "url": "https://glygen.org/publication/PubMed/20591975" } ] }, { "title": "Bi-modal regulation of a formin by srGAP2.", "journal": "The Journal of biological chemistry", "date": "2011", "authors": "Mason FM, Heimsath EG, Higgs HN, Soderling SH", "evidence": [ { "database": "Reactome", "id": "R-HSA-5663220", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5663220" } ], "reference": [ { "type": "PubMed", "id": "21148482", "url": "https://glygen.org/publication/PubMed/21148482" } ] }, { "title": "Aurora B regulates formin mDia3 in achieving metaphase chromosome alignment.", "journal": "Developmental cell", "date": "2011", "authors": "Cheng L, Zhang J, Ahmad S, Rozier L, Yu H, Deng H, Mao Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-5663220", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5663220" } ], "reference": [ { "type": "PubMed", "id": "21397845", "url": "https://glygen.org/publication/PubMed/21397845" } ] }, { "title": "RhoA and RhoC have distinct roles in migration and invasion by acting through different targets.", "journal": "The Journal of cell biology", "date": "2011", "authors": "Vega FM, Fruhwirth G, Ng T, Ridley AJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-5663220", "url": 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"count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "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": "glycosylation_predicted", "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": "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": 1 }, { "field": "total_sites", "count": 1 } ], "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": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 63 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }