{
"uniprot_canonical_ac": "P08631-1",
"uniprot_ac": "P08631",
"uniprot_id": "HCK_HUMAN",
"mass": {
"chemical_mass": 59600.0,
"monoisotopic_mass": 59600.0
},
"refseq": {
"ac": "NP_001165600",
"name": "tyrosine-protein kinase HCK isoform b",
"summary": "The protein encoded by this gene is a member of the Src family of tyrosine kinases. This protein is primarily hemopoietic, particularly in cells of the myeloid and B-lymphoid lineages. It may help couple the Fc receptor to the activation of the respiratory burst. In addition, it may play a role in neutrophil migration and in the degranulation of neutrophils. Multiple isoforms with different subcellular distributions are produced due to both alternative splicing and the use of alternative translation initiation codons, including a non-AUG (CUG) codon. [provided by RefSeq, Feb 2010].",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001165600"
},
"gene_names": [
{
"name": "HCK",
"resource": "UniProtKB",
"type": "recommended",
"url": "https://www.uniprot.org/uniprot/P08631",
"id": "P08631"
},
{
"name": "AIPCV; JTK9; p59Hck; p61Hck",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001165600",
"id": "NP_001165600"
},
{
"name": "HCK",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001165600",
"id": "NP_001165600"
}
],
"protein_names": [
{
"name": "Tyrosine-protein kinase HCK",
"resource": "UniProtKB",
"type": "recommended",
"url": "",
"id": "P08631"
},
{
"name": "2.7.10.2",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "P08631"
},
{
"name": "Hematopoietic cell kinase",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "P08631"
},
{
"name": "Hemopoietic cell kinase",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "P08631"
},
{
"name": "p59-HCK/p60-HCK; tyrosine-protein kinase HCK; hematopoietic cell kinase; hemopoietic cell kinase",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001165600",
"id": "NP_001165600"
},
{
"name": "p59-HCK/p60-HCK",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "P08631"
},
{
"name": "p59Hck",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "P08631"
},
{
"name": "p61Hck",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "P08631"
},
{
"name": "tyrosine-protein kinase HCK isoform b",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001165600",
"id": "NP_001165600"
}
],
"function": [
{
"annotation": "Alternate use of a non-AUG (CUG), and an in-frame, downstream AUG translation initiation codon, results in the production of two isoforms with different subcellular localization.",
"evidence": [
{
"database": "RefSeq",
"id": "NP_001165600",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001165600"
},
{
"database": "PubMed",
"id": "10967098",
"url": "https://glygen.org/publication/PubMed/10967098"
},
{
"database": "PubMed",
"id": "1875927",
"url": "https://glygen.org/publication/PubMed/1875927"
}
]
},
{
"annotation": "HCK Promotes High-Grade Serous Ovarian Cancer Tumorigenesis through CD44 and NOTCH3 Signaling.",
"evidence": [
{
"database": "RefSeq",
"id": "NP_001165600",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001165600"
},
{
"database": "PubMed",
"id": "37342066",
"url": "https://glygen.org/publication/PubMed/37342066"
}
]
},
{
"annotation": "HCK is a Potential Prognostic Biomarker that Correlates with Immune Cell Infiltration in Acute Myeloid Leukemia. Publication Status: Online-Only",
"evidence": [
{
"database": "RefSeq",
"id": "NP_001165600",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001165600"
},
{
"database": "PubMed",
"id": "35280440",
"url": "https://glygen.org/publication/PubMed/35280440"
}
]
},
{
"annotation": "Kinase-deficient BTK mutants confer ibrutinib resistance through activation of the kinase HCK.",
"evidence": [
{
"database": "RefSeq",
"id": "NP_001165600",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001165600"
},
{
"database": "PubMed",
"id": "35639855",
"url": "https://glygen.org/publication/PubMed/35639855"
}
]
},
{
"annotation": "Non-receptor tyrosine-protein kinase found in hematopoietic cells that transmits signals from cell surface receptors and plays an important role in the regulation of innate immune responses, including neutrophil, monocyte, macrophage and mast cell functions, phagocytosis, cell survival and proliferation, cell adhesion and migration. Acts downstream of receptors that bind the Fc region of immunoglobulins, such as FCGR1A and FCGR2A, but also CSF3R, PLAUR, the receptors for IFNG, IL2, IL6 and IL8, and integrins, such as ITGB1 and ITGB2. During the phagocytic process, mediates mobilization of secretory lysosomes, degranulation, and activation of NADPH oxidase to bring about the respiratory burst. Plays a role in the release of inflammatory molecules. Promotes reorganization of the actin cytoskeleton and actin polymerization, formation of podosomes and cell protrusions. Inhibits TP73-mediated transcription activation and TP73-mediated apoptosis. Phosphorylates CBL in response to activation of immunoglobulin gamma Fc region receptors. Phosphorylates ADAM15, BCR, ELMO1, FCGR2A, GAB1, GAB2, RAPGEF1, STAT5B, TP73, VAV1 and WAS.",
"evidence": [
{
"database": "UniProtKB",
"id": "P08631",
"url": "https://www.uniprot.org/uniprot/P08631#function"
},
{
"database": "PubMed",
"id": "12411494",
"url": "https://glygen.org/publication/PubMed/12411494"
},
{
"database": "PubMed",
"id": "15952790",
"url": "https://glygen.org/publication/PubMed/15952790"
},
{
"database": "PubMed",
"id": "9406996",
"url": "https://glygen.org/publication/PubMed/9406996"
},
{
"database": "PubMed",
"id": "10779760",
"url": "https://glygen.org/publication/PubMed/10779760"
},
{
"database": "PubMed",
"id": "9407116",
"url": "https://glygen.org/publication/PubMed/9407116"
},
{
"database": "PubMed",
"id": "19903482",
"url": "https://glygen.org/publication/PubMed/19903482"
},
{
"database": "PubMed",
"id": "17535448",
"url": "https://glygen.org/publication/PubMed/17535448"
},
{
"database": "PubMed",
"id": "10973280",
"url": "https://glygen.org/publication/PubMed/10973280"
},
{
"database": "PubMed",
"id": "11896602",
"url": "https://glygen.org/publication/PubMed/11896602"
},
{
"database": "PubMed",
"id": "7535819",
"url": "https://glygen.org/publication/PubMed/7535819"
},
{
"database": "PubMed",
"id": "21338576",
"url": "https://glygen.org/publication/PubMed/21338576"
},
{
"database": "PubMed",
"id": "17310994",
"url": "https://glygen.org/publication/PubMed/17310994"
},
{
"database": "PubMed",
"id": "10092522",
"url": "https://glygen.org/publication/PubMed/10092522"
},
{
"database": "PubMed",
"id": "19114024",
"url": "https://glygen.org/publication/PubMed/19114024"
},
{
"database": "PubMed",
"id": "15998323",
"url": "https://glygen.org/publication/PubMed/15998323"
},
{
"database": "PubMed",
"id": "8132624",
"url": "https://glygen.org/publication/PubMed/8132624"
},
{
"database": "PubMed",
"id": "11741929",
"url": "https://glygen.org/publication/PubMed/11741929"
},
{
"database": "PubMed",
"id": "20452982",
"url": "https://glygen.org/publication/PubMed/20452982"
},
{
"database": "PubMed",
"id": "15010462",
"url": "https://glygen.org/publication/PubMed/15010462"
}
]
},
{
"annotation": "The protein encoded by this gene is a member of the Src family of tyrosine kinases. This protein is primarily hemopoietic, particularly in cells of the myeloid and B-lymphoid lineages. It may help couple the Fc receptor to the activation of the respiratory burst. In addition, it may play a role in neutrophil migration and in the degranulation of neutrophils. Multiple isoforms with different subcellular distributions are produced due to both alternative splicing and the use of alternative translation initiation codons, including a non-AUG (CUG) codon. [provided by RefSeq, Feb 2010].",
"evidence": [
{
"database": "RefSeq",
"id": "NP_001165600",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001165600"
}
]
}
],
"disease": [
{
"disease_id": "MONDO:0957204",
"recommended_name": {
"id": "MONDO:0957204",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0957204",
"name": "autoinflammation with pulmonary and cutaneous vasculitis",
"description": ""
},
"synonyms": [
{
"id": "MIM:620296",
"resource": "MIM",
"url": "https://www.omim.org/entry/620296",
"name": "Autoinflammation with pulmonary and cutaneous vasculitis",
"description": "Autoinflammation with pulmonary and cutaneous vasculitis"
}
],
"evidence": [
{
"id": "620296",
"database": "MIM",
"url": "https://www.omim.org/entry/620296"
}
]
}
],
"snv": [
{
"evidence": [
{
"id": "rs566299253",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs566299253"
},
{
"id": "rs566299253",
"database": "gnomAD",
"url": "http://gnomad.broadinstitute.org/awesome?query=rs566299253"
}
],
"glycoeffect": [
"n-glyco-sequon-gain"
],
"start_pos": 207,
"end_pos": 207,
"sequence_org": "G",
"sequence_mut": "S",
"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NGG->NGS).",
"chr_id": "20",
"chr_pos": "32083980",
"ref_nt": "A",
"alt_nt": "null",
"minor_allelic_frequency": "",
"site_lbl": "G207",
"keywords": [
"ebi",
"germline"
]
},
{
"evidence": [
{
"id": "P08631",
"database": "BioMuta",
"url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P08631"
}
],
"glycoeffect": [],
"start_pos": 339,
"end_pos": 339,
"subjects_tested": "0",
"subjects_positive": "0",
"frequency": "0.0",
"sequence_org": "G",
"sequence_mut": "E",
"comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).",
"chr_id": "20",
"chr_pos": "32088568",
"ref_nt": "G",
"alt_nt": "A",
"minor_allelic_frequency": "",
"site_lbl": "G339",
"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"
}
]
},
{
"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": ""
}
]
},
{
"disease_id": "DOID:363",
"recommended_name": {
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "uterine cancer",
"description": "A female reproductive organ cancer that is located_in the uterus."
},
"synonyms": [
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "CA - cancer of uterus",
"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "Tumour of uterus",
"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "malignant neoplasm of uterus",
"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "malignant uterine tumor",
"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "neoplasm of uterus",
"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "uterine tumor",
"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "uterus neoplasm",
"description": ""
}
]
}
],
"keywords": [
"biomuta",
"somatic",
"cancer",
"disease"
]
},
{
"evidence": [
{
"id": "rs1276931899",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1276931899"
},
{
"id": "rs1276931899",
"database": "TOPMed",
"url": "https://www.ncbi.nlm.nih.gov/snp/rs1276931899#frequency_tab"
},
{
"id": "rs1276931899",
"database": "gnomAD",
"url": "http://gnomad.broadinstitute.org/awesome?query=rs1276931899"
}
],
"glycoeffect": [
"o-glyco-site-loss"
],
"start_pos": 347,
"end_pos": 347,
"sequence_org": "S",
"sequence_mut": "I",
"comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->I).",
"chr_id": "20",
"chr_pos": "32088592",
"ref_nt": "T",
"alt_nt": "null",
"minor_allelic_frequency": "",
"site_lbl": "S347",
"keywords": [
"ebi",
"germline"
]
},
{
"evidence": [
{
"id": "rs1211911241",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1211911241"
},
{
"id": "rs1211911241",
"database": "gnomAD",
"url": "http://gnomad.broadinstitute.org/awesome?query=rs1211911241"
}
],
"glycoeffect": [
"o-glyco-site-loss"
],
"start_pos": 347,
"end_pos": 347,
"sequence_org": "S",
"sequence_mut": "R",
"comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->R).",
"chr_id": "20",
"chr_pos": "32088593",
"ref_nt": "A",
"alt_nt": "null",
"minor_allelic_frequency": "",
"site_lbl": "S347",
"keywords": [
"ebi",
"germline"
]
},
{
"evidence": [
{
"id": "rs1487021447",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1487021447"
},
{
"id": "rs1487021447",
"database": "TOPMed",
"url": "https://www.ncbi.nlm.nih.gov/snp/rs1487021447#frequency_tab"
},
{
"id": "rs1487021447",
"database": "gnomAD",
"url": "http://gnomad.broadinstitute.org/awesome?query=rs1487021447"
}
],
"glycoeffect": [
"o-glyco-site-loss"
],
"start_pos": 351,
"end_pos": 351,
"sequence_org": "S",
"sequence_mut": "G",
"comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->G).",
"chr_id": "20",
"chr_pos": "32088603",
"ref_nt": "G",
"alt_nt": "null",
"minor_allelic_frequency": "",
"site_lbl": "S351",
"keywords": [
"ebi",
"germline"
]
},
{
"evidence": [
{
"id": "rs771849634",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771849634"
},
{
"id": "rs771849634",
"database": "ExAC",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771849634"
},
{
"id": "rs771849634",
"database": "TOPMed",
"url": "https://www.ncbi.nlm.nih.gov/snp/rs771849634#frequency_tab"
},
{
"id": "rs771849634",
"database": "gnomAD",
"url": "http://gnomad.broadinstitute.org/awesome?query=rs771849634"
}
],
"glycoeffect": [
"o-glyco-site-loss"
],
"start_pos": 351,
"end_pos": 351,
"sequence_org": "S",
"sequence_mut": "R",
"comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->R).",
"chr_id": "20",
"chr_pos": "32088605",
"ref_nt": "G",
"alt_nt": "null",
"minor_allelic_frequency": "",
"site_lbl": "S351",
"keywords": [
"ebi",
"germline"
]
},
{
"evidence": [
{
"id": "rs771236044",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771236044"
},
{
"id": "rs771236044",
"database": "ExAC",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771236044"
},
{
"id": "rs771236044",
"database": "gnomAD",
"url": "http://gnomad.broadinstitute.org/awesome?query=rs771236044"
}
],
"glycoeffect": [
"n-glyco-sequon-gain"
],
"start_pos": 490,
"end_pos": 490,
"sequence_org": "M",
"sequence_mut": "T",
"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NIM->NIT).",
"chr_id": "20",
"chr_pos": "32101407",
"ref_nt": "C",
"alt_nt": "null",
"minor_allelic_frequency": "",
"site_lbl": "M490",
"keywords": [
"ebi",
"germline"
]
},
{
"evidence": [
{
"id": "rs765257294",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765257294"
},
{
"id": "rs765257294",
"database": "ExAC",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765257294"
},
{
"id": "rs765257294",
"database": "gnomAD",
"url": "http://gnomad.broadinstitute.org/awesome?query=rs765257294"
}
],
"glycoeffect": [
"n-glyco-sequon-gain"
],
"start_pos": 498,
"end_pos": 498,
"sequence_org": "P",
"sequence_mut": "S",
"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NRP->NRS).",
"chr_id": "20",
"chr_pos": "32101430",
"ref_nt": "T",
"alt_nt": "null",
"minor_allelic_frequency": "",
"site_lbl": "P498",
"keywords": [
"ebi",
"germline"
]
},
{
"evidence": [
{
"id": "rs1045389318",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1045389318"
},
{
"id": "rs1045389318",
"database": "TOPMed",
"url": "https://www.ncbi.nlm.nih.gov/snp/rs1045389318#frequency_tab"
}
],
"glycoeffect": [
"n-glyco-sequon-gain"
],
"start_pos": 71,
"end_pos": 71,
"sequence_org": "P",
"sequence_mut": "S",
"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NTP->NTS).",
"chr_id": "20",
"chr_pos": "32073346",
"ref_nt": "T",
"alt_nt": "null",
"minor_allelic_frequency": "",
"site_lbl": "P71",
"keywords": [
"ebi",
"germline"
]
}
],
"mutagenesis": [
{
"start_pos": 23,
"end_pos": 23,
"sequence_org": "G",
"sequence_mut": "A",
"comment": "Myristoylation and palmitoylation are abolished, leading to entirely cytoplasmic localization; in isoform 2.",
"evidence": [
{
"database": "UniProtKB",
"id": "P08631",
"url": "https://www.uniprot.org/uniprot/P08631"
},
{
"database": "PubMed",
"id": "7791757",
"url": "https://glygen.org/publication/PubMed/7791757"
}
]
},
{
"start_pos": 24,
"end_pos": 24,
"sequence_org": "C",
"sequence_mut": "S",
"comment": "Palmitoylation is abolished, some cytoplasmic and no calveolar localization; in isoform 2.",
"evidence": [
{
"database": "UniProtKB",
"id": "P08631",
"url": "https://www.uniprot.org/uniprot/P08631"
},
{
"database": "PubMed",
"id": "7791757",
"url": "https://glygen.org/publication/PubMed/7791757"
}
]
},
{
"start_pos": 290,
"end_pos": 290,
"sequence_org": "K",
"sequence_mut": "E",
"comment": "Loss of kinase activity.",
"evidence": [
{
"database": "UniProtKB",
"id": "P08631",
"url": "https://www.uniprot.org/uniprot/P08631"
},
{
"database": "PubMed",
"id": "11896602",
"url": "https://glygen.org/publication/PubMed/11896602"
}
]
},
{
"start_pos": 305,
"end_pos": 305,
"sequence_org": "E",
"sequence_mut": "A",
"comment": "Loss of kinase activity.",
"evidence": [
{
"database": "UniProtKB",
"id": "P08631",
"url": "https://www.uniprot.org/uniprot/P08631"
},
{
"database": "PubMed",
"id": "10644735",
"url": "https://glygen.org/publication/PubMed/10644735"
}
]
},
{
"start_pos": 381,
"end_pos": 381,
"sequence_org": "D",
"sequence_mut": "E",
"comment": "Loss of kinase activity.",
"evidence": [
{
"database": "UniProtKB",
"id": "P08631",
"url": "https://www.uniprot.org/uniprot/P08631"
},
{
"database": "PubMed",
"id": "15998323",
"url": "https://glygen.org/publication/PubMed/15998323"
}
]
},
{
"start_pos": 3,
"end_pos": 3,
"sequence_org": "G",
"sequence_mut": "C",
"comment": "Slight palmitoylation, cytoplasmic and caveolar localization; in isoform 1;.",
"evidence": [
{
"database": "UniProtKB",
"id": "P08631",
"url": "https://www.uniprot.org/uniprot/P08631"
},
{
"database": "PubMed",
"id": "11904303",
"url": "https://glygen.org/publication/PubMed/11904303"
},
{
"database": "PubMed",
"id": "7791757",
"url": "https://glygen.org/publication/PubMed/7791757"
}
]
},
{
"start_pos": 3,
"end_pos": 3,
"sequence_org": "G",
"sequence_mut": "S",
"comment": "Abolishes palmitoylation and localization at the cell membrane.",
"evidence": [
{
"database": "UniProtKB",
"id": "P08631",
"url": "https://www.uniprot.org/uniprot/P08631"
},
{
"database": "PubMed",
"id": "11904303",
"url": "https://glygen.org/publication/PubMed/11904303"
},
{
"database": "PubMed",
"id": "7791757",
"url": "https://glygen.org/publication/PubMed/7791757"
}
]
},
{
"start_pos": 411,
"end_pos": 411,
"sequence_org": "Y",
"sequence_mut": "A",
"comment": "Reduced catalytic activity and higher affinity for target peptides.",
"evidence": [
{
"database": "UniProtKB",
"id": "P08631",
"url": "https://www.uniprot.org/uniprot/P08631"
},
{
"database": "PubMed",
"id": "10644735",
"url": "https://glygen.org/publication/PubMed/10644735"
}
]
},
{
"start_pos": 522,
"end_pos": 522,
"sequence_org": "Y",
"sequence_mut": "F",
"comment": "Constitutively activated kinase, leading to cellular transformation.",
"evidence": [
{
"database": "UniProtKB",
"id": "P08631",
"url": "https://www.uniprot.org/uniprot/P08631"
},
{
"database": "PubMed",
"id": "11896602",
"url": "https://glygen.org/publication/PubMed/11896602"
},
{
"database": "PubMed",
"id": "10092522",
"url": "https://glygen.org/publication/PubMed/10092522"
}
]
}
],
"expression_tissue": [
{
"tissue": {
"name": "Adult mammalian kidney",
"namespace": "UBERON",
"id": "0000082",
"url": "http://purl.obolibrary.org/obo/UBERON_0000082"
},
"score": "67.84",
"present": "MEDIUM",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000101336",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000101336"
}
]
},
{
"tissue": {
"name": "Oral cavity",
"namespace": "UBERON",
"id": "0000167",
"url": "http://purl.obolibrary.org/obo/UBERON_0000167"
},
"score": "75.07",
"present": "MEDIUM",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000101336",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000101336"
}
]
},
{
"tissue": {
"name": "Stomach",
"namespace": "UBERON",
"id": "0000945",
"url": "http://purl.obolibrary.org/obo/UBERON_0000945"
},
"score": "71.2",
"present": "MEDIUM",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000101336",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000101336"
}
]
},
{
"tissue": {
"name": "Uterus",
"namespace": "UBERON",
"id": "0000995",
"url": "http://purl.obolibrary.org/obo/UBERON_0000995"
},
"score": "57.25",
"present": "LOW",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000101336",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000101336"
}
]
},
{
"tissue": {
"name": "Esophagus",
"namespace": "UBERON",
"id": "0001043",
"url": "http://purl.obolibrary.org/obo/UBERON_0001043"
},
"score": "88.61",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000101336",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000101336"
}
]
},
{
"tissue": {
"name": "Rectum",
"namespace": "UBERON",
"id": "0001052",
"url": "http://purl.obolibrary.org/obo/UBERON_0001052"
},
"score": "85.13",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000101336",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000101336"
}
]
},
{
"tissue": {
"name": "Colon",
"namespace": "UBERON",
"id": "0001155",
"url": "http://purl.obolibrary.org/obo/UBERON_0001155"
},
"score": "63.51",
"present": "MEDIUM",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000101336",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000101336"
}
]
},
{
"tissue": {
"name": "Urinary bladder",
"namespace": "UBERON",
"id": "0001255",
"url": "http://purl.obolibrary.org/obo/UBERON_0001255"
},
"score": "71.96",
"present": "MEDIUM",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000101336",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000101336"
}
]
},
{
"tissue": {
"name": "Thyroid gland",
"namespace": "UBERON",
"id": "0002046",
"url": "http://purl.obolibrary.org/obo/UBERON_0002046"
},
"score": "69.31",
"present": "MEDIUM",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000101336",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000101336"
}
]
},
{
"tissue": {
"name": "Lung",
"namespace": "UBERON",
"id": "0002048",
"url": "http://purl.obolibrary.org/obo/UBERON_0002048"
},
"score": "77.89",
"present": "MEDIUM",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000101336",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000101336"
}
]
},
{
"tissue": {
"name": "Liver",
"namespace": "UBERON",
"id": "0002107",
"url": "http://purl.obolibrary.org/obo/UBERON_0002107"
},
"score": "76.69",
"present": "MEDIUM",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000101336",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000101336"
}
]
},
{
"tissue": {
"name": "Prostate gland",
"namespace": "UBERON",
"id": "0002367",
"url": "http://purl.obolibrary.org/obo/UBERON_0002367"
},
"score": "72.05",
"present": "MEDIUM",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000101336",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000101336"
}
]
},
{
"tissue": {
"name": "Thoracic mammary gland",
"namespace": "UBERON",
"id": "0005200",
"url": "http://purl.obolibrary.org/obo/UBERON_0005200"
},
"score": "75.44",
"present": "MEDIUM",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000101336",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000101336"
}
]
}
],
"expression_disease": [
{
"significant": "No",
"trend": "down",
"name": "Prostate cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:10283",
"evidence": [
{
"database": "BioXpress",
"id": "P08631",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P08631"
}
],
"disease": [
{
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"recommended_name": {
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"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10283",
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},
"synonyms": [
{
"id": "DOID:10283",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10283",
"name": "NGP - new growth of prostate",
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},
{
"id": "DOID:10283",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10283",
"name": "hereditary prostate cancer",
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},
{
"id": "DOID:10283",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10283",
"name": "malignant tumor of the prostate",
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},
{
"id": "DOID:10283",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10283",
"name": "prostate cancer, familial",
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},
{
"id": "DOID:10283",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10283",
"name": "prostate neoplasm",
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},
{
"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 prostate cancer caused by mutation in RNASEL",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "prostate cancer 1",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "prostate cancer, hereditary, 1",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "prostate cancer, hereditary, type 1",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "HPC1",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "Prca1",
"description": ""
},
{
"id": "MONDO:0012768",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012768",
"name": "prostate cancer, hereditary, 11",
"description": ""
},
{
"id": "MONDO:0012768",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012768",
"name": "HPC11",
"description": ""
},
{
"id": "MONDO:0012768",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012768",
"name": "prostate cancer, hereditary, 11",
"description": ""
},
{
"id": "MONDO:0012769",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012769",
"name": "prostate cancer, hereditary, 14",
"description": ""
},
{
"id": "MONDO:0012769",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012769",
"name": "HPC14",
"description": ""
},
{
"id": "MONDO:0012769",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012769",
"name": "prostate cancer, hereditary, 14",
"description": ""
},
{
"id": "MONDO:0012770",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012770",
"name": "prostate cancer, hereditary, 15",
"description": ""
},
{
"id": "MONDO:0012770",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012770",
"name": "HPC15",
"description": ""
},
{
"id": "MONDO:0012770",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012770",
"name": "prostate cancer, hereditary, 15",
"description": ""
},
{
"id": "MONDO:0010257",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010257",
"name": "prostate cancer, hereditary, X-linked 1",
"description": ""
},
{
"id": "MONDO:0010257",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010257",
"name": "HPCX1",
"description": ""
},
{
"id": "MONDO:0010257",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010257",
"name": "prostate cancer, hereditary, X-linked 1",
"description": ""
},
{
"id": "MONDO:0010257",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010257",
"name": "prostate cancer susceptibility, X-linked",
"description": ""
},
{
"id": "MONDO:0010405",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010405",
"name": "prostate cancer, hereditary, X-linked 2",
"description": ""
},
{
"id": "MONDO:0010405",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010405",
"name": "HPCX2",
"description": ""
},
{
"id": "MONDO:0010405",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010405",
"name": "prostate cancer, hereditary, X-linked 2",
"description": ""
},
{
"id": "MIM:611868",
"resource": "MIM",
"url": "https://www.omim.org/entry/611868",
"name": "Prostate cancer, hereditary, 12",
"description": "Prostate cancer, hereditary, 12"
},
{
"id": "MIM:611928",
"resource": "MIM",
"url": "https://www.omim.org/entry/611928",
"name": "Prostate cancer, hereditary, 13",
"description": "Prostate cancer, hereditary, 13"
},
{
"id": "MIM:176807",
"resource": "MIM",
"url": "https://www.omim.org/entry/176807",
"name": "Prostate cancer",
"description": "Prostate cancer"
},
{
"id": "MIM:601518",
"resource": "MIM",
"url": "https://www.omim.org/entry/601518",
"name": "Prostate cancer, hereditary, 1",
"description": "Prostate cancer, hereditary, 1"
},
{
"id": "MIM:611955",
"resource": "MIM",
"url": "https://www.omim.org/entry/611955",
"name": "Prostate cancer, hereditary, 11",
"description": "Prostate cancer, hereditary, 11"
}
]
}
]
},
{
"significant": "No",
"trend": "up",
"name": "Stomach cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:10534",
"evidence": [
{
"database": "BioXpress",
"id": "P08631",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P08631"
}
],
"disease": [
{
"disease_id": "DOID:10534",
"recommended_name": {
"id": "DOID:10534",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10534",
"name": "stomach cancer",
"description": "A gastrointestinal system cancer that is located_in the stomach."
},
"synonyms": [
{
"id": "DOID:10534",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10534",
"name": "gastric cancer",
"description": ""
},
{
"id": "DOID:10534",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10534",
"name": "gastric neoplasm",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "gastric cancer",
"description": "A primary or metastatic malignant neoplasm involving the stomach."
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "gastric neoplasm",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "Ca lesser curvature - stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "cancer of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "gastric cancer",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "gastric cancer risk after h. pylori infection",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "gastric cancer, somatic",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant gastric neoplasm",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant gastric tumor",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant gastric tumour",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant neoplasm of lesser curve of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant neoplasm of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant neoplasm of the stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant stomach neoplasm",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumor of body of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumor of greater curve of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumor of lesser curve of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumor of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumor of the stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumour of body of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumour of greater curve of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumour of lesser curve of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumour of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumour of the stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "stomach cancer",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "Ca body - stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "ca greater curvature of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant neoplasm of body of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "gastric cancer, intestinal",
"description": ""
},
{
"id": "MIM:613659",
"resource": "MIM",
"url": "https://www.omim.org/entry/613659",
"name": "Gastric cancer",
"description": "Gastric cancer"
}
]
}
]
},
{
"significant": "No",
"trend": "up",
"name": "Urinary bladder cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:11054",
"evidence": [
{
"database": "BioXpress",
"id": "P08631",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P08631"
}
],
"disease": [
{
"disease_id": "DOID:11054",
"recommended_name": {
"id": "DOID:11054",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11054",
"name": "urinary bladder cancer",
"description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder."
},
"synonyms": [
{
"id": "DOID:11054",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11054",
"name": "bladder cancer",
"description": ""
},
{
"id": "DOID:11054",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11054",
"name": "tumor of the bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "urinary bladder cancer",
"description": "A primary or metastatic malignant neoplasm involving the bladder."
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "tumor of the bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "tumour of the bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "bladder cancer, somatic",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "cancer of urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant bladder neoplasm",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant bladder tumor",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant bladder tumour",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant neoplasm of bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant neoplasm of the bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant neoplasm of the urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant neoplasm of urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant neoplasm, bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant neoplasm, urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumor of bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumor of the bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumor of the urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumor of urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumor, urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumour of bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumour of the bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumour of the urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumour of urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant urinary bladder neoplasm",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant urinary bladder tumor",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant urinary bladder tumour",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "urinary bladder cancer",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "urinary bladder malignant neoplasm",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "urinary bladder malignant tumor",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "urinary bladder malignant tumour",
"description": ""
},
{
"id": "MIM:109800",
"resource": "MIM",
"url": "https://www.omim.org/entry/109800",
"name": "Bladder cancer",
"description": "Bladder cancer"
}
]
}
]
},
{
"significant": "Yes",
"trend": "up",
"name": "Head and neck cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:11934",
"evidence": [
{
"database": "BioXpress",
"id": "P08631",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P08631"
}
],
"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",
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},
"synonyms": [
{
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"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11934",
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},
{
"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",
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"name": "head/neck neoplasm",
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},
{
"id": "DOID:11934",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11934",
"name": "tumor of head and neck",
"description": ""
}
]
}
]
},
{
"significant": "Yes",
"trend": "down",
"name": "Lung cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:1324",
"evidence": [
{
"database": "BioXpress",
"id": "P08631",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P08631"
}
],
"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": "up",
"name": "Breast cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:1612",
"evidence": [
{
"database": "BioXpress",
"id": "P08631",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P08631"
}
],
"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": "P08631",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P08631"
}
],
"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": "P08631",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P08631"
}
],
"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": "down",
"name": "Liver cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:3571",
"evidence": [
{
"database": "BioXpress",
"id": "P08631",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P08631"
}
],
"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": "P08631",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P08631"
}
],
"disease": [
{
"disease_id": "DOID:363",
"recommended_name": {
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "uterine cancer",
"description": "A female reproductive organ cancer that is located_in the uterus."
},
"synonyms": [
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "CA - cancer of uterus",
"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "Tumour of uterus",
"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "malignant neoplasm of uterus",
"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "malignant uterine tumor",
"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "neoplasm of uterus",
"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "uterine tumor",
"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "uterus neoplasm",
"description": ""
}
]
}
]
},
{
"significant": "Yes",
"trend": "up",
"name": "Esophageal cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:5041",
"evidence": [
{
"database": "BioXpress",
"id": "P08631",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P08631"
}
],
"disease": [
{
"disease_id": "DOID:5041",
"recommended_name": {
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "esophageal cancer",
"description": "A gastrointestinal system cancer that is located_in the esophagus."
},
"synonyms": [
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "Ca lower third oesophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "Ca middle third oesophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "esophagus cancer",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant neoplasm of distal third of esophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant neoplasm of lower third of oesophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant neoplasm of middle third of oesophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant neoplasm of proximal third of esophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant neoplasm of upper third esophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant tumor of Distal Third of esophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant tumor of Proximal Third of esophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant tumor of abdominal esophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant tumor of the middle Third of the esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "esophageal cancer",
"description": "A primary or metastatic malignant neoplasm involving the esophagus."
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "cancer of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "cancer of oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "esophageal cancer",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "esophageal cancer, somatic",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "esophageal carcinoma, somatic",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "esophageal squamous cell carcinoma, somatic",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "esophagus cancer",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant esophageal neoplasm",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant esophageal tumor",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant esophageal tumour",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant esophagus neoplasm",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant esophagus tumor",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of the esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of the oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant oesophagus neoplasm",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant oesophagus tumour",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumor of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumor of the esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumour of oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumour of the oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "oesophagus cancer",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "Ca lower third esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "Ca lower third oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "Ca middle third esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "Ca middle third oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of distal third of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of distal third of oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of lower third of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of lower third of oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of middle third of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of middle third of oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of proximal third of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of proximal third of oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of upper third esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of upper third oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumor of abdominal esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumor of distal third of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumor of proximal third of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumor of the middle third of the esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumour of abdominal oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumour of distal third of oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumour of proximal third of oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumour of the middle third of the oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "Aerodigestive tract cancer, susceptibility to",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "Escc, susceptibility to",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "esophageal squamous cell carcinoma, susceptibility to",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "gastric cardia adenocarcinoma, susceptibility to",
"description": ""
},
{
"id": "MIM:133239",
"resource": "MIM",
"url": "https://www.omim.org/entry/133239",
"name": "Esophageal cancer",
"description": "Esophageal cancer"
}
]
}
]
},
{
"significant": "Yes",
"trend": "down",
"name": "Colorectal cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:9256",
"evidence": [
{
"database": "BioXpress",
"id": "P08631",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P08631"
}
],
"disease": [
{
"disease_id": "DOID:9256",
"recommended_name": {
"id": "DOID:9256",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:9256",
"name": "colorectal cancer",
"description": "A large intestine cancer that is located_in the colon and/or located_in the rectum."
},
"synonyms": [
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colorectal cancer",
"description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma."
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "cancer of colorectum",
"description": ""
},
{
"id": "MONDO:0005575",
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{
"id": "R-HSA-9664323",
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{
"id": "R-HSA-9664422",
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{
"id": "R-HSA-9674555",
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"database": "Reactome",
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{
"id": "R-HSA-9680350",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9680350",
"database": "Reactome",
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{
"id": "R-HSA-9705462",
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{
"id": "R-HSA-9706374",
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{
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{
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{
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{
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{
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{
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{
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},
{
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{
"id": "P08631-2",
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},
{
"id": "P08631-3",
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{
"id": "P08631-4",
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]
}
],
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"length": 526,
"header": "sp|P08631-1|HCK_HUMAN Isoform 1 of Tyrosine-protein kinase HCK OS=Homo sapiens OX=9606 GN=HCK PE=1 SV=5 CANONICAL=P08631-1"
},
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{
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"url": "",
"sequence": {
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"length": 525,
"header": "tr|H0Y3C5-1|HCK_HUMAN Computationally mapped isoform of Tyrosine-protein kinase HCK OS=Homo sapiens OX=9606 GN=HCK PE=1 SV=1 CANONICAL=P08631-1"
},
"locus": {
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"id": "ENST00000375862",
"url": "https://www.ensembl.org/id/ENST00000375862"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000365022",
"url": "https://www.ensembl.org/id/ENSP00000365022"
}
]
}
},
{
"isoform_ac": "H7BXG4-1",
"url": "",
"sequence": {
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"length": 41,
"header": "tr|H7BXG4-1|H7BXG4_HUMAN Computationally mapped isoform of HCK proto-oncogene, Src family tyrosine kinase OS=Homo sapiens OX=9606 GN=HCK PE=1 SV=2 CANONICAL=P08631-1"
},
"locus": {
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"id": "ENST00000262651.4",
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},
{
"database": "Ensembl Peptide",
"id": "ENSP00000262651.4",
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}
]
}
},
{
"isoform_ac": "H7C5P9-1",
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"sequence": {
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"header": "tr|H7C5P9-1|H7C5P9_HUMAN Computationally mapped isoform of HCK proto-oncogene, Src family tyrosine kinase OS=Homo sapiens OX=9606 GN=HCK PE=1 SV=2 CANONICAL=P08631-1"
},
"locus": {
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"database": "Ensembl Transcript",
"id": "ENST00000486475.6",
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{
"database": "Ensembl Peptide",
"id": "ENSP00000420457.2",
"url": "https://www.ensembl.org/id/ENSP00000420457.2"
}
]
}
},
{
"isoform_ac": "J3KPD6-1",
"url": "",
"sequence": {
"sequence": "LGGRSSCEDPGCPRDEERAPRMGCMKSKFLQVGGNTFSKTETSASPHCPVYVPDPTSTIKPGPNSHNSNTPGIREAGSEDIIVVALYDYEAIHHEDLSFQKGDQMVVLEESGEWWKARSLATRKEGYIPSNYVARVDSLETEEWFFKGISRKDAERQLLAPGNMLGSFMIRDSETTKGSYSLSVRDYDPRQGDTVKHYKIRTLDNGGFYISPRSTFSTLQELVDHYKKGNDGLCQKLSVPCMSSKPQKPWEKDAWEIPRESLKLEKKLGAGQFGEVWMATYNKHTKVAVKTMKPGSMSVEAFLAEANVMKTLQHDKLVKLHAVVTKEPIYIITEFMAKGSLLDFLKSDEGSKQPLPKLIDFSAQIAEGMAFIEQRNYIHRDLRAANILVSASLVCKIADFGLARVIEDNEYTAREGAKFPIKWTAPEAINFGSFTIKSDVWSFGILLMEIVTYGRIPYPGMSNPEVIRALERGYRMPRPENCPEELYNIMMRCWKNRPEERPTFEYIQSVLDDFYTATESQYQQQP",
"length": 526,
"header": "tr|J3KPD6-1|J3KPD6_HUMAN Computationally mapped isoform of Tyrosine-protein kinase OS=Homo sapiens OX=9606 GN=HCK PE=1 SV=1 CANONICAL=P08631-1"
},
"locus": {
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"start_pos": 32101516,
"end_pos": 32052425,
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"database": "Ensembl Transcript",
"id": "ENST00000375852",
"url": "https://www.ensembl.org/id/ENST00000375852"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000365012",
"url": "https://www.ensembl.org/id/ENSP00000365012"
}
]
}
},
{
"isoform_ac": "P08631-1",
"url": "",
"sequence": {
"sequence": "MGGRSSCEDPGCPRDEERAPRMGCMKSKFLQVGGNTFSKTETSASPHCPVYVPDPTSTIKPGPNSHNSNTPGIREAGSEDIIVVALYDYEAIHHEDLSFQKGDQMVVLEESGEWWKARSLATRKEGYIPSNYVARVDSLETEEWFFKGISRKDAERQLLAPGNMLGSFMIRDSETTKGSYSLSVRDYDPRQGDTVKHYKIRTLDNGGFYISPRSTFSTLQELVDHYKKGNDGLCQKLSVPCMSSKPQKPWEKDAWEIPRESLKLEKKLGAGQFGEVWMATYNKHTKVAVKTMKPGSMSVEAFLAEANVMKTLQHDKLVKLHAVVTKEPIYIITEFMAKGSLLDFLKSDEGSKQPLPKLIDFSAQIAEGMAFIEQRNYIHRDLRAANILVSASLVCKIADFGLARVIEDNEYTAREGAKFPIKWTAPEAINFGSFTIKSDVWSFGILLMEIVTYGRIPYPGMSNPEVIRALERGYRMPRPENCPEELYNIMMRCWKNRPEERPTFEYIQSVLDDFYTATESQYQQQP",
"length": 526,
"header": "sp|P08631-1|HCK_HUMAN Isoform 1 of Tyrosine-protein kinase HCK OS=Homo sapiens OX=9606 GN=HCK PE=1 SV=5 CANONICAL=P08631-1"
},
"locus": {}
},
{
"isoform_ac": "P08631-2",
"url": "",
"sequence": {
"sequence": "MGCMKSKFLQVGGNTFSKTETSASPHCPVYVPDPTSTIKPGPNSHNSNTPGIREAGSEDIIVVALYDYEAIHHEDLSFQKGDQMVVLEESGEWWKARSLATRKEGYIPSNYVARVDSLETEEWFFKGISRKDAERQLLAPGNMLGSFMIRDSETTKGSYSLSVRDYDPRQGDTVKHYKIRTLDNGGFYISPRSTFSTLQELVDHYKKGNDGLCQKLSVPCMSSKPQKPWEKDAWEIPRESLKLEKKLGAGQFGEVWMATYNKHTKVAVKTMKPGSMSVEAFLAEANVMKTLQHDKLVKLHAVVTKEPIYIITEFMAKGSLLDFLKSDEGSKQPLPKLIDFSAQIAEGMAFIEQRNYIHRDLRAANILVSASLVCKIADFGLARVIEDNEYTAREGAKFPIKWTAPEAINFGSFTIKSDVWSFGILLMEIVTYGRIPYPGMSNPEVIRALERGYRMPRPENCPEELYNIMMRCWKNRPEERPTFEYIQSVLDDFYTATESQYQQQP",
"length": 505,
"header": "sp|P08631-2|HCK_HUMAN Isoform 2 of Tyrosine-protein kinase HCK OS=Homo sapiens OX=9606 GN=HCK PE=1 SV=5 CANONICAL=P08631-1"
},
"locus": {
"chromosome": "20",
"start_pos": 32101516,
"end_pos": 32071663,
"strand": "-",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000629881.2",
"url": "https://www.ensembl.org/id/ENST00000629881.2"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000486627.1",
"url": "https://www.ensembl.org/id/ENSP00000486627.1"
}
]
}
},
{
"isoform_ac": "P08631-3",
"url": "",
"sequence": {
"sequence": "MGCMKSKFLQVGGNTFSKTETSASPHCPVYVPDPTSTIKPGPNSHNSNTPGIREGSEDIIVVALYDYEAIHHEDLSFQKGDQMVVLEESGEWWKARSLATRKEGYIPSNYVARVDSLETEEWFFKGISRKDAERQLLAPGNMLGSFMIRDSETTKGSYSLSVRDYDPRQGDTVKHYKIRTLDNGGFYISPRSTFSTLQELVDHYKKGNDGLCQKLSVPCMSSKPQKPWEKDAWEIPRESLKLEKKLGAGQFGEVWMATYNKHTKVAVKTMKPGSMSVEAFLAEANVMKTLQHDKLVKLHAVVTKEPIYIITEFMAKGSLLDFLKSDEGSKQPLPKLIDFSAQIAEGMAFIEQRNYIHRDLRAANILVSASLVCKIADFGLARVIEDNEYTAREGAKFPIKWTAPEAINFGSFTIKSDVWSFGILLMEIVTYGRIPYPGMSNPEVIRALERGYRMPRPENCPEELYNIMMRCWKNRPEERPTFEYIQSVLDDFYTATESQYQQQP",
"length": 504,
"header": "sp|P08631-3|HCK_HUMAN Isoform 3 of Tyrosine-protein kinase HCK OS=Homo sapiens OX=9606 GN=HCK PE=1 SV=5 CANONICAL=P08631-1"
},
"locus": {
"chromosome": "20",
"start_pos": 32101516,
"end_pos": 32071663,
"strand": "-",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000518730.5",
"url": "https://www.ensembl.org/id/ENST00000518730.5"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000427757.1",
"url": "https://www.ensembl.org/id/ENSP00000427757.1"
}
]
}
},
{
"isoform_ac": "P08631-4",
"url": "",
"sequence": {
"sequence": "MGGRSSCEDPGCPRDEERAPRMGCMKSKFLQVGGNTFSKTETSASPHCPVYVPDPTSTIKPGPNSHNSNTPGIREGSEDIIVVALYDYEAIHHEDLSFQKGDQMVVLEESGEWWKARSLATRKEGYIPSNYVARVDSLETEEWFFKGISRKDAERQLLAPGNMLGSFMIRDSETTKGSYSLSVRDYDPRQGDTVKHYKIRTLDNGGFYISPRSTFSTLQELVDHYKKGNDGLCQKLSVPCMSSKPQKPWEKDAWEIPRESLKLEKKLGAGQFGEVWMATYNKHTKVAVKTMKPGSMSVEAFLAEANVMKTLQHDKLVKLHAVVTKEPIYIITEFMAKGSLLDFLKSDEGSKQPLPKLIDFSAQIAEGMAFIEQRNYIHRDLRAANILVSASLVCKIADFGLARVIEDNEYTAREGAKFPIKWTAPEAINFGSFTIKSDVWSFGILLMEIVTYGRIPYPGMSNPEVIRALERGYRMPRPENCPEELYNIMMRCWKNRPEERPTFEYIQSVLDDFYTATESQYQQQP",
"length": 525,
"header": "sp|P08631-4|HCK_HUMAN Isoform 4 of Tyrosine-protein kinase HCK OS=Homo sapiens OX=9606 GN=HCK PE=1 SV=5 CANONICAL=P08631-1"
},
"locus": {}
}
],
"glycosylation": [
{
"glytoucan_ac": "G49108TO",
"type": "O-linked",
"subtype": "O-GlcNAcylation",
"site_category": "reported_with_glycan",
"site_seq": "S",
"relation": "attached",
"comment": "O-GlcNAcylation",
"start_pos": 347,
"start_aa": "Ser",
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"end_aa": "Ser",
"residue": "Ser",
"site_lbl": "Ser347",
"evidence": [
{
"id": "P08631",
"database": "O-GlcNAc Database",
"url": "https://www.oglcnac.mcw.edu/search/?query_protein=P08631"
},
{
"id": "29351928",
"database": "PubMed",
"url": "https://glygen.org/publication/PubMed/29351928"
},
{
"id": "P08631",
"database": "O-GlcNAc Atlas",
"url": "https://oglcnac.org/atlas/detail/P08631"
}
]
},
{
"glytoucan_ac": "G49108TO",
"type": "O-linked",
"subtype": "O-GlcNAcylation",
"site_category": "reported_with_glycan",
"site_seq": "S",
"relation": "attached",
"comment": "O-GlcNAcylation",
"start_pos": 351,
"start_aa": "Ser",
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"end_aa": "Ser",
"residue": "Ser",
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{
"id": "P08631",
"database": "O-GlcNAc Database",
"url": "https://www.oglcnac.mcw.edu/search/?query_protein=P08631"
},
{
"id": "29351928",
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"url": "https://glygen.org/publication/PubMed/29351928"
},
{
"id": "P08631",
"database": "O-GlcNAc Atlas",
"url": "https://oglcnac.org/atlas/detail/P08631"
}
]
}
],
"phosphorylation": [
{
"start_pos": 202,
"end_pos": 202,
"kinase_uniprot_canonical_ac": "",
"kinase_gene_name": "",
"residue": "Thr",
"comment": "Phosphothreonine",
"evidence": [
{
"database": "UniProtKB",
"id": "P08631",
"url": "https://www.uniprot.org/uniprot/P08631"
},
{
"database": "PubMed",
"id": "19369195",
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},
{
"database": "iPTMnet",
"id": "P08631",
"url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P08631"
}
],
"site_lbl": "Thr202"
},
{
"start_pos": 209,
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"kinase_gene_name": "HCK",
"residue": "Tyr",
"comment": "",
"evidence": [
{
"database": "phospho.ELM",
"id": "P08631",
"url": "http://phospho.elm.eu.org/byAccession/P08631.html"
},
{
"database": "iPTMnet",
"id": "P08631",
"url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P08631"
},
{
"database": "PubMed",
"id": "10644735",
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}
],
"site_lbl": "Tyr209"
},
{
"start_pos": 209,
"end_pos": 209,
"kinase_uniprot_canonical_ac": "",
"kinase_gene_name": "",
"residue": "Tyr",
"comment": "Phosphotyrosine",
"evidence": [
{
"database": "UniProtKB",
"id": "P08631",
"url": "https://www.uniprot.org/uniprot/P08631"
},
{
"database": "iPTMnet",
"id": "P08631",
"url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P08631"
},
{
"database": "PubMed",
"id": "16497976",
"url": "https://glygen.org/publication/PubMed/16497976"
},
{
"database": "PubMed",
"id": "18083107",
"url": "https://glygen.org/publication/PubMed/18083107"
},
{
"database": "phospho.ELM",
"id": "P08631",
"url": "http://phospho.elm.eu.org/byAccession/P08631.html"
}
],
"site_lbl": "Tyr209"
},
{
"start_pos": 36,
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"kinase_uniprot_canonical_ac": "",
"kinase_gene_name": "",
"residue": "Thr",
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{
"database": "UniProtKB",
"id": "P08631",
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},
{
"database": "PubMed",
"id": "24275569",
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},
{
"database": "iPTMnet",
"id": "P08631",
"url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P08631"
}
],
"site_lbl": "Thr36"
},
{
"start_pos": 411,
"end_pos": 411,
"kinase_uniprot_canonical_ac": "P08631-1",
"kinase_gene_name": "HCK",
"residue": "Tyr",
"comment": "",
"evidence": [
{
"database": "iPTMnet",
"id": "P08631",
"url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P08631"
},
{
"database": "PubMed",
"id": "11976726",
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},
{
"database": "PubMed",
"id": "16497976",
"url": "https://glygen.org/publication/PubMed/16497976"
},
{
"database": "PubMed",
"id": "17016520",
"url": "https://glygen.org/publication/PubMed/17016520"
},
{
"database": "PubMed",
"id": "19664994",
"url": "https://glygen.org/publication/PubMed/19664994"
},
{
"database": "PubMed",
"id": "9407116",
"url": "https://glygen.org/publication/PubMed/9407116"
},
{
"database": "PubMed",
"id": "10934191",
"url": "https://glygen.org/publication/PubMed/10934191"
},
{
"database": "phospho.ELM",
"id": "P08631",
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},
{
"database": "PubMed",
"id": "10644735",
"url": "https://glygen.org/publication/PubMed/10644735"
},
{
"database": "UniProtKB",
"id": "P08631",
"url": "https://www.uniprot.org/uniprot/P08631"
}
],
"site_lbl": "Tyr411"
},
{
"start_pos": 411,
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"kinase_uniprot_canonical_ac": "",
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{
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{
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},
{
"name": "lipid binding",
"id": "GO:0008289",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008289",
"evidence": [
{
"database": "UniProtKB",
"id": "P08631",
"url": "https://www.uniprot.org/uniprot/P08631"
}
],
"pmid": ""
}
]
},
{
"name": "Cellular Component",
"total": 13,
"go_terms": [
{
"name": "nucleus",
"id": "GO:0005634",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634",
"evidence": [
{
"database": "UniProtKB",
"id": "P08631",
"url": "https://www.uniprot.org/uniprot/P08631"
}
],
"pmid": ""
},
{
"name": "Golgi apparatus",
"id": "GO:0005794",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794",
"evidence": [
{
"database": "UniProtKB",
"id": "P08631",
"url": "https://www.uniprot.org/uniprot/P08631"
}
],
"pmid": ""
},
{
"name": "cytosol",
"id": "GO:0005829",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829",
"evidence": [
{
"database": "UniProtKB",
"id": "P08631",
"url": "https://www.uniprot.org/uniprot/P08631"
}
],
"pmid": ""
},
{
"name": "cytoskeleton",
"id": "GO:0005856",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005856",
"evidence": [
{
"database": "UniProtKB",
"id": "P08631",
"url": "https://www.uniprot.org/uniprot/P08631"
}
],
"pmid": ""
},
{
"name": "plasma membrane",
"id": "GO:0005886",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886",
"evidence": [
{
"database": "UniProtKB",
"id": "P08631",
"url": "https://www.uniprot.org/uniprot/P08631"
}
],
"pmid": ""
},
{
"name": "focal adhesion",
"id": "GO:0005925",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005925",
"evidence": [
{
"database": "UniProtKB",
"id": "P08631",
"url": "https://www.uniprot.org/uniprot/P08631"
}
],
"pmid": ""
},
{
"name": "extrinsic component of cytoplasmic side of plasma membrane",
"id": "GO:0031234",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031234",
"evidence": [
{
"database": "UniProtKB",
"id": "P08631",
"url": "https://www.uniprot.org/uniprot/P08631"
}
],
"pmid": ""
},
{
"name": "intracellular membrane-bounded organelle",
"id": "GO:0043231",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043231",
"evidence": [
{
"database": "UniProtKB",
"id": "P08631",
"url": "https://www.uniprot.org/uniprot/P08631"
}
],
"pmid": ""
},
{
"name": "lysosome",
"id": "GO:0005764",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005764",
"evidence": [
{
"database": "UniProtKB",
"id": "P08631",
"url": "https://www.uniprot.org/uniprot/P08631"
}
],
"pmid": ""
},
{
"name": "transport vesicle",
"id": "GO:0030133",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030133",
"evidence": [
{
"database": "UniProtKB",
"id": "P08631",
"url": "https://www.uniprot.org/uniprot/P08631"
}
],
"pmid": ""
},
{
"name": "caveola",
"id": "GO:0005901",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005901",
"evidence": [
{
"database": "UniProtKB",
"id": "P08631",
"url": "https://www.uniprot.org/uniprot/P08631"
}
],
"pmid": ""
},
{
"name": "cytoplasmic side of plasma membrane",
"id": "GO:0009898",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009898",
"evidence": [
{
"database": "UniProtKB",
"id": "P08631",
"url": "https://www.uniprot.org/uniprot/P08631"
}
],
"pmid": ""
},
{
"name": "cell projection",
"id": "GO:0042995",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042995",
"evidence": [
{
"database": "UniProtKB",
"id": "P08631",
"url": "https://www.uniprot.org/uniprot/P08631"
}
],
"pmid": ""
}
]
}
]
},
"pro_annotation": [],
"site_annotation": [],
"ptm_annotation": [
{
"annotation": "Isoform 2 palmitoylation at position 2 requires prior myristoylation. Palmitoylation at position 3 is required for caveolar localization of isoform 2.",
"evidence": [
{
"database": "UniProtKB",
"id": "P08631",
"url": "https://www.uniprot.org/uniprot/P08631"
},
{
"database": "PubMed",
"id": "7791757",
"url": "https://glygen.org/publication/PubMed/7791757"
}
]
},
{
"annotation": "Phosphorylated on several tyrosine residues. Autophosphorylated. Becomes rapidly phosphorylated upon activation of the immunoglobulin receptors FCGR1A and FCGR2A. Phosphorylation by the BCR-ABL fusion protein mediates activation of HCK. Phosphorylation at Tyr-411 increases kinase activity. Phosphorylation at Tyr-522 inhibits kinase activity. Kinase activity is not required for phosphorylation at Tyr-522, suggesting that this site is a target of other kinases.",
"evidence": [
{
"database": "UniProtKB",
"id": "P08631",
"url": "https://www.uniprot.org/uniprot/P08631"
},
{
"database": "PubMed",
"id": "12411494",
"url": "https://glygen.org/publication/PubMed/12411494"
},
{
"database": "PubMed",
"id": "9406996",
"url": "https://glygen.org/publication/PubMed/9406996"
},
{
"database": "PubMed",
"id": "10779760",
"url": "https://glygen.org/publication/PubMed/10779760"
},
{
"database": "PubMed",
"id": "8064233",
"url": "https://glygen.org/publication/PubMed/8064233"
},
{
"database": "PubMed",
"id": "11896602",
"url": "https://glygen.org/publication/PubMed/11896602"
},
{
"database": "PubMed",
"id": "10644735",
"url": "https://glygen.org/publication/PubMed/10644735"
},
{
"database": "PubMed",
"id": "16216497",
"url": "https://glygen.org/publication/PubMed/16216497"
},
{
"database": "PubMed",
"id": "9024658",
"url": "https://glygen.org/publication/PubMed/9024658"
},
{
"database": "PubMed",
"id": "10360180",
"url": "https://glygen.org/publication/PubMed/10360180"
}
]
},
{
"annotation": "Ubiquitinated by CBL, leading to its degradation via the proteasome.",
"evidence": [
{
"database": "UniProtKB",
"id": "P08631",
"url": "https://www.uniprot.org/uniprot/P08631"
},
{
"database": "PubMed",
"id": "11896602",
"url": "https://glygen.org/publication/PubMed/11896602"
}
]
}
],
"interactions": [],
"reactions": [
{
"id": "10596",
"name": "",
"equation": "ATP + L-tyrosyl-[protein] = ADP + H(+) + O-phospho-L-tyrosyl-[protein]",
"summary": "",
"cellular_location": "",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
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"evidence": [
{
"id": "10596",
"database": "Rhea",
"url": "https://www.rhea-db.org/rhea/10596"
}
]
},
{
"id": "R-HSA-200858",
"name": "Nef Binds and activates the Src-family tyrosine kinase Hck",
"equation": "",
"summary": "The protein Hck is a member of the Src family of non-receptor tyrosine kinases which is preferentially expressed in haematopoietic cells of the myeloid and B-lymphoid lineages. Src kinases are inhibited by tyrosine-phosphorylation at a carboxy-terminal site. The SH2 domains of these enzymes play an essential role in this regulation by binding to the tyrosine-phosphorylated tail. The SH2 domain of Hck regulates enzymatic activity indirectly; intramolecular interactions between the SH3 and catalytic domains appear to stabilize an inactive form of the kinase. The HIV-1 Nef protein, which is a high-affinity ligand for the Hck SH3 domain, binds to either the downregulated or activated form of Hck causing a large increase in Hck catalytic activity. The intact SH3-binding motif in Nef is crucial for Hck activation.",
"cellular_location": "cytosol",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P08631-1"
],
"evidence": [
{
"id": "R-HSA-200858",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-200858"
}
]
},
{
"id": "R-HSA-2029459",
"name": "Sequestering and phosphorylation Fc gamma receptors in the lipid rafts",
"equation": "",
"summary": "After cross linking, Fc gamma receptors are sequestered to lipid rafts where they are complexed with some of the tyrosine kinases of Src family and undergo phosphorylation on the tyrosine residues contained in conserved ITAM sequences. At least six out of nine members of the Src family kinases (SRC, FYN, FGR, HCK, YES and LYN ) have been identified in the phagocytic cells and are implicated in the initiation of Fc gamma mediated signaling. (Suzuki et al. 2000, Majeed et al. 2001, Kwiatkowska et al. 2003). Some of these kinases have been found associated with specific receptors. In monocytes HCK and LYN have been found associated with FCGRI (Durden et al. 1995), whereas only HCK with FCGRIIA (Ghazizadeh et al. 1994) while FGR in neutrophils (Hamada et al. 1993) and LCK in NK cells with FCGRIIIA (Pignata et al. 1993)
The implication of Src kinases in phosphorylation was first supported by pharmacological findings that herbimycin A, a tyrosine kinase inhibitor relatively specific for Src-family kinases, potently suppressed Fc receptor mediated functions (Greenberg et al. 1993, Suzuki et al. 2000). However, their particular involvement in phagocytosis remains unclear, as targeted disruption of single or multiple Src family genes did not result in significant alterations in phagocytosis (Hunter et al. 1993, Fitzer Attas et al. 2000, Suzuki et al. 2000). HCK, FGR and LYN triple-deficient (-/-) macrophages have shown significant delays in FCGR mediated phagocytosis, but these deficiencies do not completly disrupt the process (Fitzer Attas et al. 2000).
Tyrosine residues Y288 and Y304 (Y282 and Y298 according to the literature reference, it is 6 residues shorter compared to uniprot entry due to an alternate initiation codon usage), within ITAM sequence in the cytoplasmic domain of FCGRIIA are the key target sites that are phosphorylated by Src family kinases (Mitchell et al, 1994). In case of FCGRIA and FCGRIIIA the specific tyrosine residues within ITAMs of the associated gamma/zeta chains are phosphorylated by activated Src family kinases (SFKs) (Park et al. 1993).",
"cellular_location": "extracellular region, plasma membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P06241-1",
"P07947-1",
"P07948-1",
"P09769-1",
"P08631-1"
],
"evidence": [
{
"id": "R-HSA-2029459",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2029459"
}
]
},
{
"id": "R-HSA-389159",
"name": "CSF1R trans-autophosphorylates on multiple tyrosine and serine residues",
"equation": "",
"summary": "Following dimerization of the CSF-1 receptor (CSF1R), it undergoes trans-autophosphorylation on multiple tyrosine residues by its intrinsic kinase activity (Rohrschneider et al. 1997, Chihara et al. 2010). Tyrosine-561 (tyrosine-559 in the mouse homolog) in the juxtamembrane domain inhibits the kinase activity of CSF1R and is phosphorylated first, thus activating the kinase activity of CSF1R (inferred from the mouse homolog). Other tyrosine residues that are autophosphorylated are tyrosine-546 in the juxtamembrane domain, tyrosines-699,708,723 in the kinase insert domain, tyrosine-809 in the kinase domain, and tyrosines-923,969 in the C-terminal domain (Chihara et al. 2010, reviewed in Hamilton 1997, and inferred from the mouse homolog).",
"cellular_location": "plasma membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P07333-1",
"P06241-1",
"P12931-1",
"P22681-1",
"P07947-1",
"P08631-1"
],
"evidence": [
{
"id": "R-HSA-389159",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-389159"
}
]
},
{
"id": "R-HSA-879917",
"name": "CBL, GRB2, FYN and PI3K p85 subunit are constitutively associated",
"equation": "",
"summary": "Cbl is constitutively associated with Grb2 in resting hematopoietic cells (Anderson et al. 1997, Odai et al. 1995, Park et al. 1998, Panchamoorthy et al. 1996). Both the SH2 and SH3 domains of Grb2 are involved. Cbl has 2 distinct C-terminal domains, proximal and distal. The proximal domain binds Grb2 in resting and stimulated cells, and in stimulated cells also binds Shc. The distal domain can bind the adaptor protein CRKL.
; Tyrosine phosphorylation of Cbl in response to IL-3 releases the SH3 domain of Grb2 which then is free to bind other molecules (Park et al. 1998).
Cbl also associates with Fyn (Anderson et al. 1997) and the related kinases Hck and Lyn (Hunter et al. 1999). Binding studies indicate that this binding is independent of the phosphorylation state of Cbl; The association of Fyn with Cbl has been described as constitutive (Hunter et al. 1999).
; Cbl further associates with the p85 subunit of PI3K (Hartley et al. 1995, Anderson et al. 1997, Hunter et al. 1997), this is also described as constitutive and is mediated by the SH3 domain of p85 (Hunter et al. 1997).",
"cellular_location": "cytosol",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P42336-1",
"P06241-1",
"P22681-1",
"P07947-1",
"P07948-1",
"P08631-1",
"P43405-1",
"P42338-1",
"O00329-1"
],
"evidence": [
{
"id": "R-HSA-879917",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-879917"
}
]
},
{
"id": "R-HSA-912627",
"name": "CBL ubiquitinates PI3K",
"equation": "",
"summary": "Cbl is an E3 ubiquitin-protein ligase that negatively regulates signaling pathways by targeting proteins for ubiquitination and proteasomal degradation (Rao et al. 2002). Cbl-B targets PI3K for ubiquitination and degradation in T cells (Fang et al. 2000). Similarly, Cbl activation by tyrosine phosphorylation increases PI3K ubiquitination and proteasomal degradation (Dufour et al. 2008).",
"cellular_location": "cytosol",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P42336-1",
"P06241-1",
"P22681-1",
"P07947-1",
"P07948-1",
"P08631-1",
"P43405-1",
"P42338-1",
"O00329-1"
],
"evidence": [
{
"id": "R-HSA-912627",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-912627"
}
]
},
{
"id": "R-HSA-912629",
"name": "CBL is tyrosine phosphorylated",
"equation": "",
"summary": "Cbl is tyrosine phosphorylated following stimulation with IL-3 (Anderson et al. 1997) and GM-CSF (Odai et al. 1995). Cbl may be phosphorylated prior to this IL-3 stimulated tyrosyl phosphorylation (Park et al. 1998). The kinase responsible for Cbl phosphorylation may be dependent on cell type; Fyn is demonstrated to have the ability to phosphorylate Cbl (Hunter et al. 1999), other candidates include Hck, Lyn (Hunter et al. 1999) and Syk (Park et al. 1998).
; Tyrosines 700, 731 and 774 are the major sites of Cbl phosphorylation by non-receptor protein tyrosine kinases, with none showing any particular specificity for sites (Tsygankov et al. 2001). Fyn was observed to be constitutively associated with Cbl in lysates of several different cell types including the interleukin-3-dependent murine myeloid cell line 32Dcl3, and the prolactin-dependent rat thymoma cell line Nb2. Cbl phosphorylation at Y731 is postulated to provide an additional interaction between Cbl and the SH2 domain of p85-PI3K (Hunter et al. 1999). Cbl-p85 association increases in activated cells (Panchamoorthy et al. 1996). Expression of a Cbl Y731F mutant which abolishes binding of Cbl to p85 markedly increased levels of p85-PI3K (Dufour et al. 2008). Cbl-p85 binding negatively regulates PI3K activity (Fang et al. 2001); Cbl phosphorylation increased PI3K ubiquitination and proteasome degradation (Dufour et al. 2008). Cbl association with members of the Crk family is mediated by phosphorylation of Y700 and Y774 (Andoniou et al. 1996), binding with Vav is mediated by Y770 (Marengere et al 1997).",
"cellular_location": "cytosol",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P42336-1",
"P06241-1",
"P22681-1",
"P07947-1",
"P07948-1",
"P08631-1",
"P43405-1",
"P42338-1",
"O00329-1"
],
"evidence": [
{
"id": "R-HSA-912629",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-912629"
}
]
},
{
"id": "R-HSA-9609274",
"name": "Active FLT3 binds HCK",
"equation": "",
"summary": "Feline McDonough Sarcoma-like tyrosine kinase (FLT3) is a member of the class III tyrosine kinase receptor family. Ligand binding induces conformational changes in the FLT3 receptor, which facilitates its dimerization and autophosphorylation. Tyrosine-protein kinase HCK (HCK) associates with the phosphorylated Y589 and Y591 residues of FLT3. This binding results in further phosphorylation of the FLT3 receptor to make it fully active (Heiss et al. 2006, Mitina et al. 2007). There may be more unknown binding sites for HCK on FLT3.",
"cellular_location": "cytosol, plasma membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P08631-1",
"P36888-1"
],
"evidence": [
{
"id": "R-HSA-9609274",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9609274"
}
]
},
{
"id": "R-HSA-9664261",
"name": "Src phosphorylate SYK in IgG:Leishmania surface:p-FCGR3A:SYK",
"equation": "",
"summary": "Multiple sites of phosphorylation are known to exist in SYK, which both regulate its activity and also serve as docking sites for other proteins. Some of these sites include Y131 of interdomain A, Y323, Y348, and Y352 of interdomain B, and Y525 and Y526 within the activation loop of the kinase domain and Y630 in the C-terminus (Zhang et al. 2002, Lupher et al. 1998, Furlong et al. 1997). Phosphorylation of these tyrosine residues disrupts autoinhibitory interactions and results in kinase activation even in the absence of phosphorylated ITAM tyrosines (Tsang et al. 2008). SYK is primarily phosphorylated by Src family kinases and this acts as an initiating trigger by generating few molecules of activated SYK which are then involved in major SYK autophosphorylation (Hillal et al. 1997).",
"cellular_location": "cytosol, extracellular region, plasma membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P06241-1",
"P07947-1",
"P07948-1",
"P09769-1",
"P08631-1",
"P43405-1"
],
"evidence": [
{
"id": "R-HSA-9664261",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9664261"
}
]
},
{
"id": "R-HSA-9664275",
"name": "Src phosphorylates CD3 dimers in IgG:Lma antigens:FCGR3A:CD3 dimers",
"equation": "",
"summary": "After cross linking, Fc gamma receptors are sequestered to lipid rafts where they are complexed with some of the tyrosine kinases of Src family and undergo phosphorylation on the tyrosine residues contained in conserved ITAM sequences. At least six out of nine members of the Src family kinases (SRC, FYN, FGR, HCK, YES and LYN ) have been identified in the phagocytic cells and are implicated in the initiation of Fc gamma mediated signaling. (Suzuki et al. 2000, Majeed et al. 2001, Kwiatkowska et al. 2003). Some of these kinases have been found associated with specific receptors. In monocytes HCK and LYN have been found associated with FCGRI (Durden et al. 1995), whereas only HCK with FCGRIIA (Ghazizadeh et al. 1994) while FGR in neutrophils (Hamada et al. 1993) and LCK in NK cells with FCGRIIIA (Pignata et al. 1993)
The implication of Src kinases in phosphorylation was first supported by pharmacological findings that herbimycin A, a tyrosine kinase inhibitor relatively specific for Src-family kinases, potently suppressed Fc receptor mediated functions (Greenberg et al. 1993, Suzuki et al. 2000). However, their particular involvement in phagocytosis remains unclear, as targeted disruption of single or multiple Src family genes did not result in significant alterations in phagocytosis (Hunter et al. 1993, Fitzer Attas et al. 2000, Suzuki et al. 2000). HCK, FGR and LYN triple-deficient (-/-) macrophages have shown significant delays in FCGR mediated phagocytosis, but these deficiencies do not completly disrupt the process (Fitzer Attas et al. 2000).
Tyrosine residues Y288 and Y304 (Y282 and Y298 according to the literature reference, it is 6 residues shorter compared to uniprot entry due to an alternate initiation codon usage), within ITAM sequence in the cytoplasmic domain of FCGRIIA are the key target sites that are phosphorylated by Src family kinases (Mitchell et al, 1994). In case of FCGRIA and FCGRIIIA the specific tyrosine residues within ITAMs of the associated gamma/zeta chains are phosphorylated by activated Src family kinases (SFKs) (Park et al. 1993).",
"cellular_location": "cytosol, extracellular region, plasma membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P06241-1",
"P07947-1",
"P07948-1",
"P09769-1",
"P08631-1"
],
"evidence": [
{
"id": "R-HSA-9664275",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9664275"
}
]
},
{
"id": "R-HSA-9674562",
"name": "CSF3 dimer:2xp-4Y-CSF3R:LYN:p-Y-JAK1:p-JAK2:p-SYK:p-HCK:p-TYK2 binds STAT1,3,5",
"equation": "",
"summary": "The STAT proteins STAT1 (Tian et al. 1994), STAT3 (Tian et al. 1994, Tian et al. 1996, Ward et al. 1999, Marino and Roguin 2008), and STAT5 (STAT5A and STAT5B) (Tian et al. 1996) bind phosphotyrosines of the cytosolic domain of CSF3R. The membrane-proximal region of the cytosolic domain of CSF3R is sufficient to activate STAT1 and STAT5. Activation of STAT3 by low concentrations of CSF3 (G-CSF) requires a membrane-distal region of CSF3R (Ward et al. 1999).",
"cellular_location": "plasma membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"O60674-1",
"P07948-1",
"P08631-1",
"P43405-1",
"P29597-1",
"P23458-1"
],
"evidence": [
{
"id": "R-HSA-9674562",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9674562"
}
]
},
{
"id": "R-HSA-9674563",
"name": "CSF3 dimer:2xp-4Y-CSF3R:LYN:p-Y-JAK1:p-JAK2:p-SYK:p-HCK:p-TYK2:p-Y-STAT1,3,5 dissociates yielding CSF3 dimer:2xp-4Y-CSF3R:LYN:p-Y-JAK1:p-JAK2:p-SYK:p-HCK:p-TYK2 and p-Y-STAT1,3,5",
"equation": "",
"summary": "After phosphorylation while bound to phospho-CSF3R at the plasma membrane, p-STAT1,3,5 dissociates from CSF3R prior to dimerizing and transiting to the nucleus (Tian et al. 1994, Tian et al. 1996, Ward et al. 1999, also inferred from mouse homologs).",
"cellular_location": "plasma membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"O60674-1",
"P07948-1",
"P08631-1",
"P43405-1",
"P29597-1",
"P23458-1"
],
"evidence": [
{
"id": "R-HSA-9674563",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9674563"
}
]
},
{
"id": "R-HSA-9674567",
"name": "p-Y-JAK1,2 phosphorylates STAT1,3,5 in CSF3 dimer:2xp-4Y-CSF3R:LYN:p-Y-JAK1:p-Y-JAK2:p-TYK2",
"equation": "",
"summary": "Phosphorylated JAK1 (p-Y-JAK1) phosphorylates the STAT proteins STAT1 (Tian et al. 1994, Tian et al. 1996, Shimoda et al. 1997, also inferred from mouse homologs), STAT3 (Tian et al. 1994, Tian et al. 1996, Shimoda et al. 1997, Ward et al. 1999, Marino and Roguin 2008, Kumar et al. 2014, also inferred from mouse homologs), and STAT5 (Tian et al. 1994, Tian et al. 1996, Shimoda et al. 1997, also inferred from mouse homologs) at the cytosolic domain of CSF3R (G-CSFR). Phosphorylated JAK2 acts redundantly with p-Y-JAK1 to phosphorylate STAT proteins (Kumar et al. 2014, also inferred from mouse homologs).",
"cellular_location": "plasma membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"O60674-1",
"P07948-1",
"P08631-1",
"P43405-1",
"P29597-1",
"P23458-1"
],
"evidence": [
{
"id": "R-HSA-9674567",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9674567"
}
]
},
{
"id": "R-HSA-9674808",
"name": "CSF3 dimer:2xp-4Y-CSF3R:LYN:p-Y-JAK1:p-JAK2:p-TYK2 binds and phosphorylates SHC1, GRB2, GAB2, and PTPN11 (SHP2)",
"equation": "",
"summary": "Proteins involved in RAS-RAF-ERK signaling bind the phosphorylated cytosolic domain of CSF3R (GCSFR) and are phosphorylated (Wang et al. 2008 and inferred from mouse homologs). GRB2, GAB2, and SHC1 bind phosphorylated CSF3R directly. PTPN11 (SHP2) directly binds the phosphorylated cytosolic domain of CSF3R (inferred from mouse homologs) and also appears to bind CSF3R indirectly via phosphorylated GAB2 (inferred from mouse homologs). LYN is required for phosphorylation of GAB2 9inferred from mouse homologs). The order of binding and phosphorylation is unknown.",
"cellular_location": "plasma membrane",
"input_participant_list": [
"R-HSA-162563",
"R-HSA-508239",
"R-HSA-8983328"
],
"output_participant_list": [],
"enzyme_list": [
"O60674-1",
"P07948-1",
"Q06124-2",
"P08631-1",
"P43405-1",
"P29597-1",
"P23458-1"
],
"evidence": [
{
"id": "R-HSA-9674808",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9674808"
}
]
},
{
"id": "R-HSA-9674816",
"name": "p-Y546,Y584-PTPN11 (in CSF3 dimer:2xp-4Y-CSF3R:LYN:p-Y-JAK1:p-JAK2:p-SYK:p-HCK:p-TYK2:SHC:GRB2:PTPN11) dephosphorylates KRAS",
"equation": "",
"summary": "CSF3 (G-CSF) signaling activates ERKs (ERK1, ERK2) via RAS. One possible mechanism of RAS activation is the dephosphorylation of KRAS (the dominant isoform of RAS in hematopoietic cells) by phosphorylated PTPN11 (also known as SHP-2 or SHP2) (Kano et al. 2019, also inferred from dephosphorylation of the HRAS paralog in Bunda et al. 2015) bound to phosphorylated CSF3R. Dephosphorylation of RAS increases the association of RAS with its downstream effector RAF. Inhibition of PTPN11 in mouse cells indicates that this pathway accounts for most but not all activation of ERKs in response to CSF3 (Jack et al. 2009, Zhang and Friedman 2011). Guanyl nucleotide exchange factors SOS or VAV bound to GRB2 may also be responsible for some activation of RAS in response to CSF3, but this has not yet been demonstrated.",
"cellular_location": "plasma membrane",
"input_participant_list": [
"R-HSA-9674821"
],
"output_participant_list": [
"R-HSA-9674814"
],
"enzyme_list": [
"O60674-1",
"P07948-1",
"Q06124-2",
"P08631-1",
"P43405-1",
"P29597-1",
"P23458-1",
"P01116-1"
],
"evidence": [
{
"id": "R-HSA-9674816",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9674816"
}
]
},
{
"id": "R-HSA-9676071",
"name": "CSF3 dimer:2xp-4Y-CSF3R:LYN:p-Y-JAK1 binds and activates JAK2, TYK2, SYK, and HCK",
"equation": "",
"summary": "The kinases JAK2 (Shimoda et al. 1997, Marino and Roguin 2008), TYK2 (Shimoda et al. 1997, Marino and Roguin 2008), HCK, and SYK (Kasper et al. 1999) bind phosphorylated tyrosine residues of the cytosolic domain of CSF3R and are activated by phosphorylation (also inferred from mouse homologs). The order of their binding and the kinases responsible for their phosphorylation are incompletely characterized.",
"cellular_location": "plasma membrane",
"input_participant_list": [
"R-HSA-210620",
"R-HSA-877348",
"R-HSA-58268",
"R-HSA-167708"
],
"output_participant_list": [],
"enzyme_list": [
"O60674-1",
"P07948-1",
"P08631-1",
"P43405-1",
"P29597-1",
"P23458-1"
],
"evidence": [
{
"id": "R-HSA-9676071",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9676071"
}
]
},
{
"id": "R-HSA-9680348",
"name": "PIK3R1:PIK3CA,B,G (PI3K), PLCG2 (PLCgamma2), SHC1 (SHC), PTPN11 (SHP2), GRB2:GAB2, GRB2:GAB3, GRAP2 (MONA), CBL:GRB2, INPP5D (SHIP1), INPPL1 (SHIP2) bind PolyUb,p-8Y-CSF1R and are activated",
"equation": "",
"summary": "The PIK3R1 (p85alpha) subunit of phosphatidylinositol 3-kinase (PI3K) is phosphorylated and binds CBL and CSF1R (inferred from mouse homologs). CBL also directly binds phosphorylated CSF1R (inferred from mouse homologs). GRB2:SOS1 transiently interacts with CSF1R (inferred from mouse homologs) and PI3K (Saleem et al. 1995) in response to CSF1. SHC1 (SHC) interacts with CBL and CSF1R (inferred from mouse homologs). CBL is constitutively bound to GRB2, CBL is phosphorylated, and phosphorylated CBL binds phosphorylated SHC (inferred from mouse homologs). PLCG2 (PLC-gamma2), expressed in the myeloid lineage, binds phosphorylated tyrosine-723 of CSF1R and PLCG2 is phosphorylated in a process that requires the activity of PI3K (inferred from mouse homologs). GRAP2 (MONA) binds phosphorylated tyrosine-699 of CSF1R. GRB2 also interacts with CSF1R (Kharbanda et al. 1995) via phosphotyrosine-699 ( inferred from mouse homologs). GRAP2 binds GAB3, which is then phosphorylated (inferred from mouse homologs). In response to CSF1, the scaffolding protein GAB2 associates with INPP5D (SHIP1) and other proteins involved in CSF1 signaling and GAB2 is phosphorylated directly or indirectly by CSF1R (inferred from mouse homologs). INPPD5D also interacts with the kinase LYN (Baran et al. 2003). INPPL1 (SHIP2), a homolog of INPPD5, binds CSF1R in response to CSF1 (inferred from mouse homologs). GAB3, a homolog of GAB2, associates with CSF1R, is phosphorylated, and interacts with PI3K and PTPN11 (SHP2) (inferred from mouse homologs). The SRC family kinases SRC, FYN, and YES1 (YES) bind phosphorylated CSF1R (Courtneidge et al. 1993, Li et al. 1997, also inferred from mouse homologs). STAT proteins STAT1 and STAT3 bind CSF1R and are phosphorylated (inferred from mouse homologs). STAT5 also appears to be phosphorylated in response to CSF1 (Knowlton et al. 2010). THOC5 (FMIP) binds CSF1R and is phosphorylated (inferred from mouse homologs). The order of binding and phosphorylation of the interactors of CSF1R is unknown. Different subpopulations of CSF1R may be bound to different sets of interactors (inferred from mouse homologs).",
"cellular_location": "plasma membrane",
"input_participant_list": [
"R-HSA-197940",
"R-HSA-202367",
"R-HSA-354251",
"R-HSA-200917",
"R-HSA-9628701",
"R-HSA-373640",
"R-HSA-913354",
"R-HSA-9682751"
],
"output_participant_list": [],
"enzyme_list": [
"P07333-1",
"P42336-1",
"P48736-1",
"P06241-1",
"P12931-1",
"P22681-1",
"O15357-1",
"P07947-1",
"P07948-1",
"P16885-1",
"Q06124-2",
"P08631-1",
"P42338-1",
"Q92835-1"
],
"evidence": [
{
"id": "R-HSA-9680348",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9680348"
}
]
},
{
"id": "R-HSA-9680385",
"name": "CSF1R-associated SOS1 mediates exchange of GTP for GDP bound to RAS",
"equation": "",
"summary": "SOS1 (SOS) is stably bound to GRB2, which transiently associates with phosphorylated CSF1R. In response to the activation of CSF1R by CSF1, SOS1 promotes RAS to exchange of GDP for GTP (inferred from mouse homologs) and thereby activates the RAS-RAF-MEK-ERK1,2 signaling pathway. Myeloid cells contain the KRAS isoform of RAS. KRAS:GTP enhances proliferation of macrophages (inferred from mouse homologs).
GRB2 has been shown to bind phosphotyrosine-699 of CSF1R (phosphotyrosine-697 of mouse Csf1r), however phosphorylation of tyrosines 544, 559, and 807 of mouse Csf1r are together sufficient for the full proliferative response mediated via the RS-RAF-MEK-ERK1,2 pathway (Yu et al. 2012) and mouse Csf1r lacking phosophotyrosine-697 can still activate ERK (Lee and States 2000), Csf1r phosphotyrosine-697 (human CSF1R phosphotyrosine-699) is likely not the only GRB2:SOS binding site",
"cellular_location": "plasma membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P07333-1",
"P06241-1",
"P12931-1",
"P07947-1",
"P08631-1",
"P01116-1"
],
"evidence": [
{
"id": "R-HSA-9680385",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9680385"
}
]
},
{
"id": "R-HSA-9680388",
"name": "CSF1R-associated PLCG2 hydrolyzes phosphatidylcholine",
"equation": "",
"summary": "In response to CSF1, PLCG2 (phospholipase C gamma2) associates with CSF1R, is activated by phosphorylation, and hydrolyzes phosphatidylcholine to yield choline phosphate (ChoP, phosphocholine) and 1,2-diacylglycerol (Imamura et al. 1990, Nakamura et al. 1992, Obba et al. 2015, also inferred from mouse homologs). PLCG2 activates pathways that enhance differentiation of macrophages (inferred from mouse homologs).",
"cellular_location": "plasma membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P07333-1",
"P42336-1",
"P48736-1",
"P06241-1",
"P12931-1",
"P22681-1",
"O15357-1",
"P07947-1",
"P07948-1",
"P16885-1",
"Q06124-2",
"P08631-1",
"P42338-1",
"Q92835-1"
],
"evidence": [
{
"id": "R-HSA-9680388",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9680388"
}
]
},
{
"id": "R-HSA-9680389",
"name": "CSF1R-associated phosphatidylinositol 3-kinase (PI3K) phosphorylates PI(4,5)P2",
"equation": "",
"summary": "Phosphatidylinositol 3-kinase (PI3K) associated with the activated receptor for CSF1, CSF1R (M-CSFR), phosphorylates phosphatidylinositol 4,5-bisphosphate (PIP2) to yield phosphatidylinositol 3,4,5-trisphosphate (PIP3) (Saleem et al. 1995, also inferred from mouse homologs). The regulatory subunit of PI3K, PIK3R1 (p85alpha), binds phosphotyrosine-723 (721 in the mouse homologs) of CSF1R (inferred from mouse homologs). PI3K is important for proliferation, migration, and anti-inflammatory activity of macrophages (inferred from mouse homologs).",
"cellular_location": "plasma membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P07333-1",
"P42336-1",
"P48736-1",
"P06241-1",
"P12931-1",
"P22681-1",
"O15357-1",
"P07947-1",
"P07948-1",
"P16885-1",
"Q06124-2",
"P08631-1",
"P42338-1",
"Q92835-1"
],
"evidence": [
{
"id": "R-HSA-9680389",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9680389"
}
]
},
{
"id": "R-HSA-9705467",
"name": "SOCS1,3 binds p-4Y-CSF3R:CSF3 dimer:LYN:p-Y-JAK1:p-JAK2:p-SYK:p-HCK:p-TYK2",
"equation": "",
"summary": "SOCS3 (Hortner et al. 2002) or SOCS1 binds phosphotyrosine-729 (phosphotyrosine-727 of isoform 1) of CSF3R. SOCS3 also interacts with phosphotyrosine-1007 of JAK2 (Sasaki et al. 1999). SOCS1 and especially SOCS3 inhibit the phosphorylation activity of JAK2 (van de Geijn et al. 2004).",
"cellular_location": "plasma membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"O60674-1",
"P07948-1",
"P08631-1",
"P43405-1",
"P29597-1",
"P23458-1"
],
"evidence": [
{
"id": "R-HSA-9705467",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9705467"
}
]
},
{
"id": "R-HSA-9705726",
"name": "SOCS1,3:p-4Y-CSF3R:CSF3 dimer:LYN:p-Y-JAK1:p-JAK2:p-SYK:p-HCK:p-TYK2 is endocytosed",
"equation": "",
"summary": "After binding CSF3 (G-CSF), the CSF3 receptor CSF3R is internalized into endosomes (Aarts et al. 2004). Only a minor portion of CSF3R is located at the plasma membrane. Most CSF3R is located internally in the Golgi, endosomes, and lysosomes (Aarts et al. 2004). Endocytosis depends on a dileucine motif in the C-terminal region of CSF3R (inferred from mouse homologs).",
"cellular_location": "plasma membrane, endocytic vesicle membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"O60674-1",
"P07948-1",
"P08631-1",
"P43405-1",
"P29597-1",
"P23458-1"
],
"evidence": [
{
"id": "R-HSA-9705726",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9705726"
}
]
},
{
"id": "R-HSA-9705729",
"name": "SOCS1,3:p-4Y-CSF3R:CSF3 dimer:LYN:p-Y-JAK1:p-JAK2:p-SYK:p-HCK:p-TYK2 binds CUL5, ELOB, ELOC, RNF7",
"equation": "",
"summary": "SOCS1 and SOCS3 recruit Elongin B (ELOB), Elongin C (ELOC), Cullin5 (CUL5), and RNF7 to CSF3R to form a ubiquitin E3 ligase complex (Kamura et al. 2004 and inferred from mouse homologs). SOCS3 has 100-fold higher affinity for CUL5 than SOCS1 has (inferred from mouse homologs).",
"cellular_location": "endocytic vesicle membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"O60674-1",
"P07948-1",
"P08631-1",
"P43405-1",
"P29597-1",
"P23458-1"
],
"evidence": [
{
"id": "R-HSA-9705729",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9705729"
}
]
},
{
"id": "R-HSA-9705738",
"name": "SOCS1,3 ubiquitinates CSF3R in SOCS1,3:p-4Y-CSF3R:CSF3 dimer:LYN:p-Y-JAK1:p-JAK2:p-SYK:p-HCK:p-TYK2:CUL5:ELOB:ELOC:RNF7",
"equation": "",
"summary": "A ubiquitin E3 ligase complex assembled by SOCS3 or SOCS1 polyubiquitinates a membrane proximal lysine residue of CSF3R (K632 of the mature protein which corresponds to K655 of the preprotein) (Irandoust et al. 2007, W\u00f6lfler et al. 2009).",
"cellular_location": "endocytic vesicle membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"O60674-1",
"P07948-1",
"P08631-1",
"P43405-1",
"P29597-1",
"P51668-1",
"P61077-1",
"P62837-1",
"P23458-1"
],
"evidence": [
{
"id": "R-HSA-9705738",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9705738"
}
]
},
{
"id": "R-HSA-9707977",
"name": "CSF3 dimer:2xK48polyUb-K655,p-4Y-CSF3R:LYN:p-Y-JAK1:p-JAK2:p-Y-SYK:p-HCK:p-TYK2 translocates from the endocytic vesicle membrane to the lysosomal membrane",
"equation": "",
"summary": "Polyubiquitinated CSF3R, believed to be in a complex with with CSF3 and other signaling molecules, transits from endosomes to lysosomes (Aarts et al. 2004, Irandoust et al. 2007, W\u00f6lfler et al. 2009).",
"cellular_location": "lysosomal membrane, endocytic vesicle membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"O60674-1",
"P07948-1",
"P08631-1",
"P43405-1",
"P29597-1",
"P23458-1"
],
"evidence": [
{
"id": "R-HSA-9707977",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9707977"
}
]
},
{
"id": "R-HSA-9733316",
"name": "p-Y-CBL autoubiquitinates and multiubiquitinates p-Y561-CSF1R in CSF1 dimer:p-Y561-CSF1R dimer:p-Y-CBL",
"equation": "",
"summary": "After CBL is phosphorylated and binds CSF1R, CBL autopolyubiquitinates and polyubiquitinates CSF1R (inferred from mouse homologs). The ubiquitination of CSF1R results in a subsequent wave of phosphorylation by CSF1R and the internalization and proteolysis of CSF1R (inferred from mouse homologs). Thus multiubiquitination of CSF1R is required for full activity of CSF1R and for termination of signaling by CSF1R.",
"cellular_location": "plasma membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P07333-1",
"P06241-1",
"P12931-1",
"P22681-1",
"P07947-1",
"P08631-1"
],
"evidence": [
{
"id": "R-HSA-9733316",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9733316"
}
]
},
{
"id": "R-HSA-9733323",
"name": "Src family kinases phosphorylate CBL in CSF1 dimer:p-Y561-CSF1R dimer:CBL",
"equation": "",
"summary": "CBL binds the phosphorylated CSF1R and is phosphorylated (inferred from mouse homologs). CBL is observed to bind phosphotyrosine-969 but mutation of tyrosine-561 has a greater effect on phosphoryation of CBL and multiubiquitination of CSF1R by CBL (inferred from mouse homologs). Based on response to inhibitors, the phosphorylation of CBL is catalyzed by SRC family kinases (inferred from mouse homologs).",
"cellular_location": "plasma membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P07333-1",
"P06241-1",
"P12931-1",
"P22681-1",
"P07947-1",
"P08631-1"
],
"evidence": [
{
"id": "R-HSA-9733323",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9733323"
}
]
},
{
"id": "R-HSA-9733330",
"name": "CSF1 dimer,IL34 dimer:p-Y561-CSF1R dimer:SFK binds GRB2:SOS1",
"equation": "",
"summary": "After an initial wave of phosphorylation of CSF1R, the stable GRB2:SOS1 complex transiently binds phospho-CSF1R (inferred from mouse homologs). GRB2 has been shown to bind phosphotyrosine-699, though another phosphotyrosine residue may be involved in transient binding of GRB2 (inferred from mouse homologs).",
"cellular_location": "plasma membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P07333-1",
"P06241-1",
"P12931-1",
"P07947-1",
"P08631-1"
],
"evidence": [
{
"id": "R-HSA-9733330",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9733330"
}
]
},
{
"id": "R-HSA-9733331",
"name": "CSF1 dimer,IL34 dimer:p-Y561-CSF1R:GRB2:SOS1 dissociates yielding CSF1 dimer,IL34 dimer:p-Y561-CSF1R:SFK and GRB2:SOS1",
"equation": "",
"summary": "GRB2:SOS1 transiently associates with phosphorylated CSF1R after CSF1R undergoes an initial wave of autophosphorylation (Wang et al. 1999). GRB2:SOS1 then dissociates from CSF1R.",
"cellular_location": "plasma membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P07333-1",
"P06241-1",
"P12931-1",
"P07947-1",
"P08631-1"
],
"evidence": [
{
"id": "R-HSA-9733331",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9733331"
}
]
},
{
"id": "R-HSA-9817983",
"name": "CSF1 dimer,IL34 dimer:p-Y561-CSF1R dimer:SFK binds CBL",
"equation": "",
"summary": "The ubiquitin E3 ligase CBL associates with the phosphorylated CSF1R.",
"cellular_location": "plasma membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P07333-1",
"P06241-1",
"P12931-1",
"P22681-1",
"P07947-1",
"P08631-1"
],
"evidence": [
{
"id": "R-HSA-9817983",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9817983"
}
]
},
{
"id": "R-HSA-9818010",
"name": "CSF1 dimer,IL34 dimer:p-Y561-CSF1R dimer binds SRC family kinases FYN,HCK,SRC,YES1",
"equation": "",
"summary": "After phosphorylation of CSF-1R tyrosine-Y561, SFKs bind the phosphotyrosine-561 site (inferred from mouse homologs).",
"cellular_location": "plasma membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P07333-1",
"P06241-1",
"P12931-1",
"P07947-1",
"P08631-1"
],
"evidence": [
{
"id": "R-HSA-9818010",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9818010"
}
]
}
],
"reaction_participants": [
{
"participant_id": "R-HSA-162563",
"participant_name": "PTPN11 [cytosol]",
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{
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{
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{
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{
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"url": ""
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{
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"url": ""
},
{
"id": "2SHP",
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"url": ""
}
]
},
{
"participant_id": "R-HSA-167708",
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"url": ""
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{
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{
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"url": ""
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{
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"url": ""
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{
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"url": ""
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{
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"url": ""
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{
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"database": "ZINC - Substances",
"url": ""
},
{
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"url": ""
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{
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{
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"url": ""
},
{
"id": "HCK_HUMAN",
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"url": ""
},
{
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"url": ""
},
{
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},
{
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{
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},
{
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{
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{
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},
{
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"url": ""
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{
"id": "HCK_HUMAN",
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"url": ""
},
{
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"url": ""
},
{
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"url": ""
},
{
"id": "3HCK",
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"url": ""
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{
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{
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{
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"url": ""
},
{
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"url": ""
},
{
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"url": ""
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