{ "uniprot_canonical_ac": "O94827-5", "uniprot_ac": "O94827", "uniprot_id": "PKHG5_HUMAN", "mass": { "chemical_mass": 111231.0, "monoisotopic_mass": 111231.0 }, "refseq": { "ac": "NP_001036128", "name": "pleckstrin homology domain-containing family G member 5 isoform c", "summary": "This gene encodes a protein that activates the nuclear factor kappa B (NFKB1) signaling pathway. Mutations in this gene are associated with autosomal recessive distal spinal muscular atrophy. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001036128" }, "gene_names": [ { "name": "PLEKHG5", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O94827", "id": "O94827" }, { "name": "ARHGEF45; CMTRIC; DSMA4; GEF720; HMNR4; Syx; Tech", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001036128", "id": "NP_001036128" }, { "name": "KIAA0720", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O94827", "id": "O94827" }, { "name": "PLEKHG5", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001036128", "id": "NP_001036128" } ], "protein_names": [ { "name": "Pleckstrin homology domain-containing family G member 5", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O94827" }, { "name": "GEF720", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O94827" }, { "name": "Guanine nucleotide exchange factor 720", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O94827" }, { "name": "PH domain-containing family G member 5", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O94827" }, { "name": "pleckstrin homology domain-containing family G member 5 isoform c", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001036128", "id": "NP_001036128" }, { "name": "pleckstrin homology domain-containing family G member 5; NFkB activating protein; novel PH domain-containing protein; PH domain-containing family G member 5; pleckstrin homology domain containing, family G (with RhoGef domain) member 5; guanine nucleotide exchange factor 720; synectin-binding guanine exchange factor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001036128", "id": "NP_001036128" } ], "function": [ { "annotation": "Characterization and computational simulation of human Syx, a RhoGEF implicated in glioblastoma.", "evidence": [ { "database": "RefSeq", "id": "NP_001036128", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001036128" }, { "database": "PubMed", "id": "35639414", "url": "https://glygen.org/publication/PubMed/35639414" } ] }, { "annotation": "Functions as a guanine exchange factor (GEF) for RAB26 and thus regulates autophagy of synaptic vesicles in axon terminal of motoneurons (By similarity). Involved in the control of neuronal cell differentiation (PubMed:11704860). Plays a role in angiogenesis through regulation of endothelial cells chemotaxis. Affects also the migration, adhesion, and matrix/bone degradation in macrophages and osteoclasts (PubMed:23777631).", "evidence": [ { "database": "UniProtKB", "id": "O94827", "url": "https://www.uniprot.org/uniprot/O94827#function" }, { "database": "PubMed", "id": "11704860", "url": "https://glygen.org/publication/PubMed/11704860" }, { "database": "PubMed", "id": "23777631", "url": "https://glygen.org/publication/PubMed/23777631" }, { "database": "UniProtKB", "id": "Q66T02", "url": "https://www.uniprot.org/uniprot/Q66T02#function" } ] }, { "annotation": "Novel variants broaden the phenotypic spectrum of PLEKHG5-associated neuropathies.", "evidence": [ { "database": "RefSeq", "id": "NP_001036128", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001036128" }, { "database": "PubMed", "id": "33220101", "url": "https://glygen.org/publication/PubMed/33220101" } ] }, { "annotation": "PLEKHG5 promoted glioma cell migration and invasion.The expression patterns of PLEKHG5 are related to the glioma patients' survival.", "evidence": [ { "database": "RefSeq", "id": "NP_001036128", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001036128" }, { "database": "PubMed", "id": "31309383", "url": "https://glygen.org/publication/PubMed/31309383" } ] }, { "annotation": "PLEKHG5 regulates autophagy, survival and MGMT expression in U251-MG glioblastoma cells. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001036128", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001036128" }, { "database": "PubMed", "id": "33318498", "url": "https://glygen.org/publication/PubMed/33318498" } ] }, { "annotation": "This gene encodes a protein that activates the nuclear factor kappa B (NFKB1) signaling pathway. Mutations in this gene are associated with autosomal recessive distal spinal muscular atrophy. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012].", "evidence": [ { "database": "RefSeq", "id": "NP_001036128", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001036128" } ] } ], "disease": [ { "disease_id": "DOID:0110198", "recommended_name": { "id": "DOID:0110198", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110198", "name": "Charcot-Marie-Tooth disease recessive intermediate C", "description": "A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in homozygous or compound heterozygous mutation in the PLEKHG5 gene on chromosome 1p36." }, "synonyms": [ { "id": "DOID:0110198", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110198", "name": "CMTRIC", "description": "" }, { "id": "DOID:0110198", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110198", "name": "RI-CMT type C", "description": "" }, { "id": "DOID:0110198", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110198", "name": "RI-CMTC", "description": "" }, { "id": "DOID:0110198", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110198", "name": "autosomal recessive intermediate Charcot-Marie-Tooth disease type C", "description": "" }, { "id": "MONDO:0014154", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014154", "name": "Charcot-Marie-Tooth disease recessive intermediate C", "description": "Autosomal recessive intermediate Charcot-Marie-Tooth disease type C is a rare subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by childhood to adulthood-onset of progressive, moderate to severe, predominantly distal, mostly lower limb muscle weakness and atrophy, foot deformities (including pes cavus and hammer toes), absent deep tendon reflexes and distal sensory loss associated with decreased motor and sensory nerve conduction velocities and features of both demyelinating and axonal neuropathy on sural nerve biopsy." }, { "id": "MONDO:0014154", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014154", "name": "CMTRIC", "description": "" }, { "id": "MONDO:0014154", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014154", "name": "Charcot-Marie-Tooth disease caused by mutation in PLEKHG5", "description": "" }, { "id": "MONDO:0014154", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014154", "name": "Charcot-Marie-Tooth disease recessive intermediate type C", "description": "" }, { "id": "MONDO:0014154", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014154", "name": "Charcot-Marie-Tooth disease, recessive Intermediate type C", "description": "" }, { "id": "MONDO:0014154", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014154", "name": "PLEKHG5 Charcot-Marie-Tooth disease", "description": "" }, { "id": "MONDO:0014154", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014154", "name": "RI-CMT type C", "description": "" }, { "id": "MONDO:0014154", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014154", "name": "RI-CMTC", "description": "" }, { "id": "MONDO:0014154", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014154", "name": "autosomal recessive intermediate Charcot-Marie-Tooth disease type C", "description": "" }, { "id": "MONDO:0014154", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014154", "name": "Charcot-Marie-Tooth disease, recessive intermediate C", "description": "" }, { "id": "MONDO:0014154", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014154", "name": "Charcot-Marie-Tooth neuropathy, recessive Intermediate C", "description": "" }, { "id": "MIM:615376", "resource": "MIM", "url": "https://www.omim.org/entry/615376", "name": "Charcot-Marie-Tooth disease, recessive intermediate C", "description": "Charcot-Marie-Tooth disease, recessive intermediate C" } ], "evidence": [ { "id": "615376", "database": "MIM", "url": "https://www.omim.org/entry/615376" } ] }, { "disease_id": "DOID:0111213", "recommended_name": { "id": "DOID:0111213", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111213", "name": "distal spinal muscular atrophy type 4", "description": "An autosomal recessive distal hereditary motor neuronopathy characterized by onset in early childhood of rapidly progressing proximal muscle weakness with an early involvement of foot and hand muscles that has_material_basis_in homozygous or compound heterozygous mutation in PLEKHG5 on 1p36.31." }, "synonyms": [ { "id": "DOID:0111213", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111213", "name": "DSMA4", "description": "" }, { "id": "DOID:0111213", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111213", "name": "autosomal recessive lower motor neuron disease with childhood onset", "description": "" }, { "id": "DOID:0111213", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111213", "name": "autosomal recessive distal spinal muscular atrophy type 4", "description": "" }, { "id": "MONDO:0012608", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012608", "name": "neuronopathy, distal hereditary motor, autosomal recessive 4", "description": "A rare, genetic, neuromuscular disease characterized by proximal muscle weakness with an early involvement of foot and hand muscles following normal motor development in early childhood, a rapidly progressive disease course leading to generalized areflexic tetraplegia with contractures, severe scoliosis, hyperlordosis, and progressive respiratory insufficiency leading to assisted ventilation. Cranial nerve functions are normal and tongue wasting and fasciculations are absent. Milder phenotype with a moderate generalized weakness and slower disease progress was reported." }, { "id": "MONDO:0012608", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012608", "name": "autosomal recessive distal spinal muscular atrophy type 4", "description": "" }, { "id": "MONDO:0012608", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012608", "name": "autosomal recessive lower motor neuron disease with childhood onset", "description": "" }, { "id": "MONDO:0012608", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012608", "name": "dSMA4", "description": "" }, { "id": "MONDO:0012608", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012608", "name": "distal spinal muscular atrophy type 4", "description": "" }, { "id": "MONDO:0012608", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012608", "name": "neuronopathy, distal hereditary motor, autosomal recessive 4", "description": "" }, { "id": "MONDO:0012608", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012608", "name": "spinal muscular atrophy, distal, autosomal recessive, type 4", "description": "" }, { "id": "MONDO:0012608", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012608", "name": "DSMA4", "description": "" }, { "id": "MONDO:0012608", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012608", "name": "spinal muscular atrophy, distal, autosomal recessive, 4", "description": "" }, { "id": "MIM:611067", "resource": "MIM", "url": "https://www.omim.org/entry/611067", "name": "Distal spinal muscular atrophy, autosomal recessive, 4", "description": "Distal spinal muscular atrophy, autosomal recessive, 4" } ], "evidence": [ { "id": "611067", "database": "MIM", "url": "https://www.omim.org/entry/611067" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "75.05", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000171680", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000171680" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "66.11", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000171680", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000171680" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "71.09", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000171680", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000171680" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "79.1", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000171680", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000171680" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "75.97", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000171680", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000171680" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "69.46", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000171680", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000171680" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "79.73", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000171680", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000171680" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "64.37", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000171680", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000171680" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "83.38", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000171680", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000171680" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "81.75", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000171680", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000171680" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O94827", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O94827" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, 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 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"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, 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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": "O94827", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O94827" } ], "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", 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"MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", 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"https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "O94827", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O94827" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "O94827", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O94827" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "O94827", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O94827" } ], "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O94827", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O94827" } ], "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": "O94827", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O94827" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "O94827", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O94827" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "O94827", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O94827" } ], "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, 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"https://www.ebi.ac.uk/interpro/entry/IPR001849", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR011993", "url": "https://www.ebi.ac.uk/interpro/entry/IPR011993", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR029071", "url": "https://www.ebi.ac.uk/interpro/entry/IPR029071", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR035899", "url": "https://www.ebi.ac.uk/interpro/entry/IPR035899", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR040181", "url": "https://www.ebi.ac.uk/interpro/entry/IPR040181", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:57449", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:57449", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "611067", "url": "http://www.omim.org/entry/611067", "database": "MIM", "categories": [ "Other" ] }, { "id": "611101", "url": "http://www.omim.org/entry/611101", "database": "MIM", "categories": [ "Other" ] }, { "id": "615376", "url": "http://www.omim.org/entry/615376", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O94827", "url": "https://www.nextprot.org/entry/NX_O94827", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "2881273at2759", "url": "http://www.orthodb.org/?query=2881273at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR13217", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR13217", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR13217:SF11", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR13217:SF11", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF00621", "url": "http://pfam.xfam.org/family/PF00621", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O94827", "url": "https://pharos.nih.gov/targets/O94827", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O94827", "url": "http://purl.obolibrary.org/obo/PR_O94827", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-193648", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-193648", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-416482", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-416482", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-8980692", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8980692", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-9696264", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9696264", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-9696273", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9696273", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_001036128", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001036128", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "O94827", "url": "https://www.uniprot.org/uniprot/O94827", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O94827-3", "url": "https://www.uniprot.org/uniprot/O94827-3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O94827-4", "url": "https://www.uniprot.org/uniprot/O94827-4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O94827-5", "url": "https://www.uniprot.org/uniprot/O94827-5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O94827-7", "url": "https://www.uniprot.org/uniprot/O94827-7", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MHYDGHVRFDLPPQGSVLARNVSTRSCPPRTSPAVDLEEEEEESSVDGKGDRKSTGLKLSKKKARRRHTDDPSKECFTLKFDLNVDIETEIVPAMKKKSLGEVLLPVFERKGIALGKVDIYLDQSNTPLSLTFEAYRFGGHYLRVKAPAKPGDEGKVEQGMKDSKSLSLPILRPAGTGPPALERVDAQSRRESLDILAPGRRRKNMSEFLGEASIPGQEPPTPSSCSLPSGSSGSTNTGDSWKNRAASRFSGFFSSGPSTSAFGREVDKMEQLEGKLHTYSLFGLPRLPRGLRFDHDSWEEEYDEDEDEDNACLRLEDSWRELIDGHEKLTRRQCHQQEAVWELLHTEASYIRKLRVIINLFLCCLLNLQESGLLCEVEAERLFSNIPEIAQLHRRLWASVMAPVLEKARRTRALLQPGDFLKGFKMFGSLFKPYIRYCMEEEGCMEYMRGLLRDNDLFRAYITWAEKHPQCQRLKLSDMLAKPHQRLTKYPLLLKSVLRKTEEPRAKEAVVAMIGSVERFIHHVNACMRQRQERQRLAAVVSRIDAYEVVESSSDEVDKLLKEFLHLDLTAPIPGASPEETRQLLLEGSLRMKEGKDSKMDVYCFLFTDLLLVTKAVKKAERTRVIRPPLLVDKIVCRELRDPGSFLLIYLNEFHSAVGAYTFQASGQALCRGWVDTIYNAQNQLQQLRAQEPPGSQQPLQSLEEEEDEQEEEEEEEEEEEEGEDSGTSAASSPTIMRKSSGSPDSQHCASDGSTETLAMVVVEPGDTLSSPEFDSGPFSSQSDETSLSTTASSATPTSELLPLGPVDGRSCSMDSAYGTLSPTSLQDFVAPGPMAELVPRAPESPRVPSPPPSPRLRRRTPVQLLSCPPHLLKSKSEASLLQLLAGAGTHGTPSAPSRSLSELCLAVPAPGIRTQGSPQEAGPSWDCRGAPSPGSGPGLVGCLAGEPAGSHRKRCGDLPSGASPRVQPEPPPGVSAQHRKLTLAQLYRIRTTLLLNSTLTASEV", "length": 1006, "header": "sp|O94827-5|PKHG5_HUMAN Isoform 5 of Pleckstrin homology domain-containing family G member 5 OS=Homo sapiens OX=9606 GN=PLEKHG5 PE=1 SV=4 CANONICAL=O94827-5" }, "isoforms": [ { "isoform_ac": "O94827-3", "url": "", "sequence": { "sequence": "MDKGRAAKVCHHADCQQLHRRGPLNLCEACDSKFHSTMHYDGHVRFDLPPQGSVLARNVSTRSCPPRTSPAVDLEEEEEESSVDGKGDRKSTGLKLSKKKARRRHTDDPSKECFTLKFDLNVDIETEIVPAMKKKSLGEVLLPVFERKGIALGKVDIYLDQSNTPLSLTFEAYRFGGHYLRVKAPAKPGDEGKVEQGMKDSKSLSLPILRPAGTGPPALERVDAQSRRESLDILAPGRRRKNMSEFLGEASIPGQEPPTPSSCSLPSGSSGSTNTGDSWKNRAASRFSGFFSSGPSTSAFGREVDKMEQLEGKLHTYSLFGLPRLPRGLRFDHDSWEEEYDEDEDEDNACLRLEDSWRELIDGHEKLTRRQCHQQEAVWELLHTEASYIRKLRVIINLFLCCLLNLQESGLLCEVEAERLFSNIPEIAQLHRRLWASVMAPVLEKARRTRALLQPGDFLKGFKMFGSLFKPYIRYCMEEEGCMEYMRGLLRDNDLFRAYITWAEKHPQCQRLKLSDMLAKPHQRLTKYPLLLKSVLRKTEEPRAKEAVVAMIGSVERFIHHVNACMRQRQERQRLAAVVSRIDAYEVVESSSDEVDKLLKEFLHLDLTAPIPGASPEETRQLLLEGSLRMKEGKDSKMDVYCFLFTDLLLVTKAVKKAERTRVIRPPLLVDKIVCRELRDPGSFLLIYLNEFHSAVGAYTFQASGQALCRGWVDTIYNAQNQLQQLRAQEPPGSQQPLQSLEEEEDEQEEEEEEEEEEEEGEDSGTSAASSPTIMRKSSGSPDSQHCASDGSTETLAMVVVEPGDTLSSPEFDSGPFSSQSDETSLSTTASSATPTSELLPLGPVDGRSCSMDSAYGTLSPTSLQDFVAPGPMAELVPRAPESPRVPSPPPSPRLRRRTPVQLLSCPPHLLKSKSEASLLQLLAGAGTHGTPSAPSRSLSELCLAVPAPGIRTQGSPQEAGPSWDCRGAPSPGSGPGLVGCLAGEPAGSHRKRCGDLPSGASPRVQPEPPPGVSAQHRKLTLAQLYRIRTTLLLNSTLTASEV", "length": 1043, "header": "sp|O94827-3|PKHG5_HUMAN Isoform 3 of Pleckstrin homology domain-containing family G member 5 OS=Homo sapiens OX=9606 GN=PLEKHG5 PE=1 SV=4 CANONICAL=O94827-5" }, "locus": { "chromosome": "1", "start_pos": 6496516, "end_pos": 6467566, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000400915.8", "url": "https://www.ensembl.org/id/ENST00000400915.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000383706.4", "url": "https://www.ensembl.org/id/ENSP00000383706.4" } ] } }, { "isoform_ac": "O94827-4", "url": "", "sequence": { "sequence": "MHYDGHVRFDLPPQGSVLARNVSTRSCPPRTSPAVDLEEEEEESSVDGKGDRKSTGLKLSKKKARRRHTDDPSKECFTLKFDLNVDIETEIVPAMKKKSLGEVLLPVFERKGIALGKVDIYLDQSNTPLSLTFEAYRFGGHYLRVKAPAKPGDEGKVEQGMKDSKSLSLPILRPAGTGPPALERVDAQSRRESLDILAPGRRRKNMSEFLGEASIPGQEPPTPSSCSLPSGSSGSTNTGDSWKNRAASRFSGFFSSGPSTSAFGREVDKMEQLEGKLHTYSLFGLPRLPRGLRFDHDSWEEEYDEDEDEDNACLRLEDSWRELIDGHEKLTRRQCHQQEAVWELLHTEASYIRKLRVIINLFLCCLLNLQESGLLCEVEAERLFSNIPEIAQLHRRLWASVMAPVLEKARRTRALLQPGDFLKGFKMFGSLFKPYIRYCMEEEGCMEYMRGLLRDNDLFRAYITWAEKHPQCQRLKLSDMLAKPHQRLTKYPLLLKSVLRKTEEPRAKEAVVAMIGSVERFIHHVNACMRQRQERQRLAAVVSRIDAYEVVESSSDEVDKLLKEFLHLDLTAPIPGASPEETRQLLLEGSLRMKEGKDSKMDVYCFLFTDLLLVTKAVKKAERTRVIRPPLLVDKIVCRELRDPGSFLLIYLNEFHSAVGAYTFQASGQALCRGWVDTIYNAQNQLQQLRAQEPPGSQQPLQSLEEEEDEQEEEEEEEEEEEEGEDSGTSAASSPTIMRKSSGSPDSQHCASDGSTETLAMVVVEPGDTLSSPEFDSGPFSSQSDETSLSTTASSATPTSELLPLGPVDGRSCSMDSAYGTLSPTSLQDFVAPGPMAELVPRAPESPRVPSPPPSPRLRRRTPVQLLSCPPHLLKSKSEASLLQLLAGAGTHGTPSAPSRSLSELCLAVPAPAQEADPGPALPNQDHPAA", "length": 930, "header": "sp|O94827-4|PKHG5_HUMAN Isoform 4 of Pleckstrin homology domain-containing family G member 5 OS=Homo sapiens OX=9606 GN=PLEKHG5 PE=1 SV=4 CANONICAL=O94827-5" }, "locus": { "chromosome": "1", "start_pos": 6477571, "end_pos": 6467846, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000377725.5", "url": "https://www.ensembl.org/id/ENST00000377725.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000366954.1", "url": "https://www.ensembl.org/id/ENSP00000366954.1" } ] } }, { "isoform_ac": "O94827-5", "url": "", "sequence": { "sequence": "MHYDGHVRFDLPPQGSVLARNVSTRSCPPRTSPAVDLEEEEEESSVDGKGDRKSTGLKLSKKKARRRHTDDPSKECFTLKFDLNVDIETEIVPAMKKKSLGEVLLPVFERKGIALGKVDIYLDQSNTPLSLTFEAYRFGGHYLRVKAPAKPGDEGKVEQGMKDSKSLSLPILRPAGTGPPALERVDAQSRRESLDILAPGRRRKNMSEFLGEASIPGQEPPTPSSCSLPSGSSGSTNTGDSWKNRAASRFSGFFSSGPSTSAFGREVDKMEQLEGKLHTYSLFGLPRLPRGLRFDHDSWEEEYDEDEDEDNACLRLEDSWRELIDGHEKLTRRQCHQQEAVWELLHTEASYIRKLRVIINLFLCCLLNLQESGLLCEVEAERLFSNIPEIAQLHRRLWASVMAPVLEKARRTRALLQPGDFLKGFKMFGSLFKPYIRYCMEEEGCMEYMRGLLRDNDLFRAYITWAEKHPQCQRLKLSDMLAKPHQRLTKYPLLLKSVLRKTEEPRAKEAVVAMIGSVERFIHHVNACMRQRQERQRLAAVVSRIDAYEVVESSSDEVDKLLKEFLHLDLTAPIPGASPEETRQLLLEGSLRMKEGKDSKMDVYCFLFTDLLLVTKAVKKAERTRVIRPPLLVDKIVCRELRDPGSFLLIYLNEFHSAVGAYTFQASGQALCRGWVDTIYNAQNQLQQLRAQEPPGSQQPLQSLEEEEDEQEEEEEEEEEEEEGEDSGTSAASSPTIMRKSSGSPDSQHCASDGSTETLAMVVVEPGDTLSSPEFDSGPFSSQSDETSLSTTASSATPTSELLPLGPVDGRSCSMDSAYGTLSPTSLQDFVAPGPMAELVPRAPESPRVPSPPPSPRLRRRTPVQLLSCPPHLLKSKSEASLLQLLAGAGTHGTPSAPSRSLSELCLAVPAPGIRTQGSPQEAGPSWDCRGAPSPGSGPGLVGCLAGEPAGSHRKRCGDLPSGASPRVQPEPPPGVSAQHRKLTLAQLYRIRTTLLLNSTLTASEV", "length": 1006, "header": "sp|O94827-5|PKHG5_HUMAN Isoform 5 of Pleckstrin homology domain-containing family G member 5 OS=Homo sapiens OX=9606 GN=PLEKHG5 PE=1 SV=4 CANONICAL=O94827-5" }, "locus": { "chromosome": "1", "start_pos": 6477571, "end_pos": 6467566, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000400913.6", "url": "https://www.ensembl.org/id/ENST00000400913.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000383704.1", "url": "https://www.ensembl.org/id/ENSP00000383704.1" } ] } }, { "isoform_ac": "O94827-7", "url": "", "sequence": { "sequence": "MGTGPGVSGRLAASRPGPGLPLRDSEPSWAGGRARDGESQVCHHADCQQLHRRGPLNLCEACDSKFHSTMHYDGHVRFDLPPQGSVLARNVSTRSCPPRTSPAVDLEEEEEESSVDGKGDRKSTGLKLSKKKARRRHTDDPSKECFTLKFDLNVDIETEIVPAMKKKSLGEVLLPVFERKGIALGKVDIYLDQSNTPLSLTFEAYRFGGHYLRVKAPAKPGDEGKVEQGMKDSKSLSLPILRPAGTGPPALERVDAQSRRESLDILAPGRRRKNMSEFLGEASIPGQEPPTPSSCSLPSGSSGSTNTGDSWKNRAASRFSGFFSSGPSTSAFGREVDKMEQLEGKLHTYSLFGLPRLPRGLRFDHDSWEEEYDEDEDEDNACLRLEDSWRELIDGHEKLTRRQCHQQEAVWELLHTEASYIRKLRVIINLFLCCLLNLQESGLLCEVEAERLFSNIPEIAQLHRRLWASVMAPVLEKARRTRALLQPGDFLKGFKMFGSLFKPYIRYCMEEEGCMEYMRGLLRDNDLFRAYITWAEKHPQCQRLKLSDMLAKPHQRLTKYPLLLKSVLRKTEEPRAKEAVVAMIGSVERFIHHVNACMRQRQERQRLAAVVSRIDAYEVVESSSDEVDKLLKEFLHLDLTAPIPGASPEETRQLLLEGSLRMKEGKDSKMDVYCFLFTDLLLVTKAVKKAERTRVIRPPLLVDKIVCRELRDPGSFLLIYLNEFHSAVGAYTFQASGQALCRGWVDTIYNAQNQLQQLRAQEPPGSQQPLQSLEEEEDEQEEEEEEEEEEEEGEDSGTSAASSPTIMRKSSGSPDSQHCASDGSTETLAMVVVEPGDTLSSPEFDSGPFSSQSDETSLSTTASSATPTSELLPLGPVDGRSCSMDSAYGTLSPTSLQDFVAPGPMAELVPRAPESPRVPSPPPSPRLRRRTPVQLLSCPPHLLKSKSEASLLQLLAGAGTHGTPSAPSRSLSELCLAVPAPGIRTQGSPQEAGPSWDCRGAPSPGSGPGLVGCLAGEPAGSHRKRCGDLPSGASPRVQPEPPPGVSAQHRKLTLAQLYRIRTTLLLNSTLTASEV", "length": 1075, "header": "sp|O94827-7|PKHG5_HUMAN Isoform 7 of Pleckstrin homology domain-containing family G member 5 OS=Homo sapiens OX=9606 GN=PLEKHG5 PE=1 SV=4 CANONICAL=O94827-5" }, "locus": {} } ], "glycosylation": [], "phosphorylation": [ { "start_pos": 729, "end_pos": 729, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "O94827", "url": "https://www.uniprot.org/uniprot/O94827" } ], "site_lbl": "Thr729" }, { "start_pos": 734, "end_pos": 734, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O94827", "url": "https://www.uniprot.org/uniprot/O94827" } ], "site_lbl": "Ser734" }, { "start_pos": 851, "end_pos": 851, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O94827", "url": "https://www.uniprot.org/uniprot/O94827" } ], "site_lbl": "Ser851" }, { "start_pos": 876, "end_pos": 876, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O94827", "url": "https://www.uniprot.org/uniprot/O94827" } ], "site_lbl": "Ser876" }, { "start_pos": 881, "end_pos": 881, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O94827", "url": "https://www.uniprot.org/uniprot/O94827" } ], "site_lbl": "Ser881" } ], "glycation": [], "keywords": [], "publication": [ { "title": "Interaction of the small G protein RhoA with the C terminus of human phospholipase D1.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Yamazaki M, Zhang Y, Watanabe H, Yokozeki T, Ohno S, Kaibuchi K, Shibata H, Mukai H, Ono Y, Frohman MA, Kanaho Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-8980692", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8980692" } ], "reference": [ { "type": "PubMed", "id": "10037681", "url": "https://glygen.org/publication/PubMed/10037681" } ] }, { "title": "Expression, purification and crystallization of a BH domain from the GTPase regulatory protein associated with focal adhesion kinase.", "journal": "Acta crystallographica. Section D, Biological crystallography", "date": "1999", "authors": "Sheffield PJ, Derewenda U, Taylor J, Parsons TJ, Derewenda ZS", "evidence": [ { "database": "Reactome", "id": "R-HSA-8980692", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8980692" } ], "reference": [ { "type": "PubMed", "id": "10232922", "url": "https://glygen.org/publication/PubMed/10232922" } ] }, { "title": "The Borgs, a new family of Cdc42 and TC10 GTPase-interacting proteins.", "journal": "Molecular and cellular biology", "date": "1999", "authors": "Joberty G, Perlungher RR, Macara IG", "evidence": [ { "database": "Reactome", "id": "R-HSA-8980692", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8980692" } ], "reference": [ { "type": "PubMed", "id": "10490598", "url": "https://glygen.org/publication/PubMed/10490598" } ] }, { "title": "Dependence of Dbl and Dbs transformation on MEK and NF-kappaB activation.", "journal": "Molecular and cellular biology", "date": "1999", "authors": "Whitehead IP, Lambert QT, Glaven JA, Abe K, Rossman KL, Mahon GM, Trzaskos JM, Kay R, Campbell SL, Der CJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-8980692", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8980692" } ], "reference": [ { "type": "PubMed", "id": "10523665", "url": "https://glygen.org/publication/PubMed/10523665" } ] }, { "title": "Biological and regulatory properties of Vav-3, a new member of the Vav family of oncoproteins.", "journal": "Molecular and cellular biology", "date": "1999", "authors": "Movilla N, Bustelo XR", "evidence": [ { "database": "Reactome", "id": "R-HSA-8980692", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8980692" } ], "reference": [ { "type": "PubMed", "id": "10523675", "url": "https://glygen.org/publication/PubMed/10523675" } ] }, { "title": "Rho-specific binding and guanine nucleotide exchange catalysis by KIAA0380, a dbl family member.", "journal": "FEBS letters", "date": "1999", "authors": "Rumenapp U, Blomquist A, Schworer G, Schablowski H, Psoma A, Jakobs KH", "evidence": [ { "database": "Reactome", "id": "R-HSA-8980692", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8980692" } ], "reference": [ { "type": "PubMed", "id": "10526156", "url": "https://glygen.org/publication/PubMed/10526156" } ] }, { "title": "Human ECT2 is an exchange factor for Rho GTPases, phosphorylated in G2/M phases, and involved in cytokinesis.", "journal": "The Journal of cell biology", "date": "1999", "authors": "Tatsumoto T, Xie X, Blumenthal R, Okamoto I, Miki T", "evidence": [ { "database": "Reactome", "id": "R-HSA-8980692", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8980692" } ], "reference": [ { "type": "PubMed", "id": "10579713", "url": "https://glygen.org/publication/PubMed/10579713" } ] }, { "title": "The structural basis of Rho effector recognition revealed by the crystal structure of human RhoA complexed with the effector domain of PKN/PRK1.", "journal": "Molecular cell", "date": "1999", "authors": "Maesaki R, Ihara K, Shimizu T, Kuroda S, Kaibuchi K, Hakoshima T", "evidence": [ { "database": "Reactome", "id": "R-HSA-8980692", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8980692" } ], "reference": [ { "type": "PubMed", "id": "10619026", "url": "https://glygen.org/publication/PubMed/10619026" } ] }, { "title": "Interaction of the Grb7 adapter protein with Rnd1, a new member of the Rho family.", "journal": "FEBS letters", "date": "2000", "authors": "Vayssiere B, Zalcman G, Mahe Y, Mirey G, Ligensa T, Weidner KM, Chardin P, Camonis J", "evidence": [ { "database": "Reactome", "id": "R-HSA-9696273", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9696273" } ], "reference": [ { "type": "PubMed", "id": "10664463", "url": "https://glygen.org/publication/PubMed/10664463" } ] }, { "title": "Functional analysis of ARHGAP6, a novel GTPase-activating protein for RhoA.", "journal": "Human molecular genetics", "date": "2000", "authors": "Prakash SK, Paylor R, Jenna S, 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"MDKGRAAKVCHHADCQQLHHRGPLNLCEICDSKFHNTTHYDGHVRFDLPPQGSVLARNVSTRSCPPRTSPAGDLEEEDEGYTNGKGDRKSAGLKISKKKARRRHTDDPSKECFTLKFDLNVDIETEIVPAMKKKSLGEVLLPVFERKGIALGKVDIYLDQSNTPLSLTFEAYRFGGHYLRVKAKPGDEGKVEQGVKDSKSLSLPALRPSGAGTPVLERVDPQSRRESSLDILAPGRRRKNMSEFLGDTSIPGQESPAPSSCSLPVGSSVGSSGSSESWKNRAASRFSGFFSSSPSTGAFGREVDKMEQLESKLHAYSLFGLPRMPRRLRFDHDSWEEEEDDEEEEDNSGLRLEDSWRELIDGHEKLTRRQCHQQEAVWELLHTEVSYIRKLRVITNLFLCCLLNLQESGLLCEVEAERLFSNIPELARLHRGLWSSVMVPVLEKARRTRALLQPSDFLKGFKMFGSLFKPYIRYCMEEEGCMEYMRSLLRDNDLFRAYVTWAEKHQQCQRLKLSDMLAKPHQRLTKYPLLLKSVLRKTDEPRAKEAIITMISSVERFIHHVNTCMRQRQERQRLAGVVSRIDAYEVVEGSNDEVDKFLKEFLHLDLTAPMPGTSPEETRQLLLEGSLRMKEGKDSKMDVYCFLFTDLLLVTKAVKKAERTKVIRPPLLVDKIVCRELRDPGSFLLIHLNEFHSAVGAYTFQASSQALCRSWVDTLYNAQNQLQQLRAQLLCAQEHPGTQHLQSLEEEEDEQEEEGEESGTSAASSPTILRKSSNSLDSEHCASDGSTETLAMVVVEPGETLSSPEFDRGPFSSQSDEASLSNTTSSITPTSELLPLGPVDGRSCSMDSAYGTLSPTSLQDFAAPHPVVEPVPVPQTLSPQPSPRLRRRTPVQLLPRLPHLLKSKSEASLLQLLSGTTTSVSPPAPSRSLSELCLITMAPGVRTQSSLQEGGPGWNCPGACGPCQGPPLSESENRPSHKAGGPADSARRKCREMPCGTVPRVQPEPSPGISAQHRKLTLAQLYRIRTTLLLNSTLTASEV", "length": 1039 }, "evidence": [ { "id": "45923247", "url": "http://www.informatics.jax.org/homology/45923247", "database": "MGI" } ], "common_name": "Rat" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 8, "go_terms": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "O94827", "url": "https://www.uniprot.org/uniprot/O94827" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "O94827", "url": "https://www.uniprot.org/uniprot/O94827" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "O94827", "url": "https://www.uniprot.org/uniprot/O94827" } ], "pmid": "" }, { "name": "cell-cell junction", "id": "GO:0005911", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005911", "evidence": [ { "database": "UniProtKB", "id": "O94827", "url": "https://www.uniprot.org/uniprot/O94827" } ], "pmid": "" }, { "name": "lamellipodium", "id": "GO:0030027", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030027", "evidence": [ { "database": "UniProtKB", "id": "O94827", "url": "https://www.uniprot.org/uniprot/O94827" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "O94827", "url": "https://www.uniprot.org/uniprot/O94827" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "O94827", "url": "https://www.uniprot.org/uniprot/O94827" } ], "pmid": "" }, { "name": "endocytic vesicle", "id": "GO:0030139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030139", "evidence": [ { "database": "UniProtKB", "id": "O94827", "url": "https://www.uniprot.org/uniprot/O94827" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 5, "go_terms": [ { "name": "regulation of small GTPase mediated signal transduction", "id": "GO:0051056", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051056", "evidence": [ { "database": "UniProtKB", "id": "O94827", "url": "https://www.uniprot.org/uniprot/O94827" } ], "pmid": "" }, { "name": "Rho protein signal transduction", "id": "GO:0007266", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007266", "evidence": [ { "database": "UniProtKB", "id": "O94827", "url": "https://www.uniprot.org/uniprot/O94827" } ], "pmid": "" }, { "name": "positive regulation of canonical NF-kappaB signal transduction", "id": "GO:0043123", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043123", "evidence": [ { "database": "UniProtKB", "id": "O94827", "url": "https://www.uniprot.org/uniprot/O94827" } ], "pmid": "" }, { "name": "endothelial cell migration", "id": "GO:0043542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043542", "evidence": [ { "database": "UniProtKB", "id": "O94827", "url": "https://www.uniprot.org/uniprot/O94827" } ], "pmid": "" }, { "name": "endothelial cell chemotaxis", "id": "GO:0035767", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035767", "evidence": [ { "database": "UniProtKB", "id": "O94827", "url": "https://www.uniprot.org/uniprot/O94827" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 1, "go_terms": [ { "name": "guanyl-nucleotide exchange factor activity", "id": "GO:0005085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005085", "evidence": [ { "database": "UniProtKB", "id": "O94827", "url": "https://www.uniprot.org/uniprot/O94827" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 205, "end_pos": 207, "annotation": "n_glycosylation_sequon" }, { "start_pos": 21, "end_pos": 23, "annotation": "n_glycosylation_sequon" }, { "start_pos": 998, "end_pos": 1000, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" } ], "sequence_features": { "n_linked_sites": [], "o_linked_sites": [], "snv_sites": [], "glycation_sites": [], "phosphorylation_sites": [ 729, 734, 851, 876, 881 ], "sequon_annotation_sites": [ { "start_pos": 205, "end_pos": 207 }, { "start_pos": 21, "end_pos": 23 }, { "start_pos": 998, "end_pos": 1000 } ] }, "section_stats": [ { "table_id": "glycosylation", "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_reported", "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_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": 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