{
"uniprot_canonical_ac": "Q96P20-1",
"uniprot_ac": "Q96P20",
"uniprot_id": "NLRP3_HUMAN",
"mass": {
"chemical_mass": 118173.0,
"monoisotopic_mass": 118173.0
},
"refseq": {
"ac": "NP_001073289",
"name": "NACHT, LRR and PYD domains-containing protein 3 isoform e",
"summary": "This gene encodes a pyrin-like protein containing a pyrin domain, a nucleotide-binding site (NBS) domain, and a leucine-rich repeat (LRR) motif. This protein interacts with the apoptosis-associated speck-like protein PYCARD/ASC, which contains a caspase recruitment domain, and is a member of the NLRP3 inflammasome complex. This complex functions as an upstream activator of NF-kappaB signaling, and it plays a role in the regulation of inflammation, the immune response, and apoptosis. The SARS-CoV 3a protein, a transmembrane pore-forming viroporin, has been shown to activate the NLRP3 inflammasome via the formation of ion channels in macrophages. Mutations in this gene are associated with familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome (MWS), chronic infantile neurological cutaneous and articular (CINCA) syndrome, neonatal-onset multisystem inflammatory disease (NOMID), keratoendotheliitis fugax hereditarian, and deafness, autosomal dominant 34, with or without inflammation. Multiple alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. Alternative 5' UTR structures are suggested by available data; however, insufficient evidence is available to determine if all of the represented 5' UTR splice patterns are biologically valid. [provided by RefSeq, Aug 2020].",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073289"
},
"gene_names": [
{
"name": "NLRP3",
"resource": "UniProtKB",
"type": "recommended",
"url": "https://www.uniprot.org/uniprot/Q96P20",
"id": "Q96P20"
},
{
"name": "AGTAVPRL; AII; AVP; C1orf7; CIAS1; CLR1.1; DFNA34; FCAS; FCAS1; FCU; KEFH; MWS; NALP3; PYPAF1",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073289",
"id": "NP_001073289"
},
{
"name": "C1orf7",
"resource": "UniProtKB",
"type": "synonym",
"url": "https://www.uniprot.org/uniprot/Q96P20",
"id": "Q96P20"
},
{
"name": "CIAS1",
"resource": "UniProtKB",
"type": "synonym",
"url": "https://www.uniprot.org/uniprot/Q96P20",
"id": "Q96P20"
},
{
"name": "NALP3",
"resource": "UniProtKB",
"type": "synonym",
"url": "https://www.uniprot.org/uniprot/Q96P20",
"id": "Q96P20"
},
{
"name": "NLRP3",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073289",
"id": "NP_001073289"
},
{
"name": "PYPAF1",
"resource": "UniProtKB",
"type": "synonym",
"url": "https://www.uniprot.org/uniprot/Q96P20",
"id": "Q96P20"
},
{
"name": "hCG_1982559",
"resource": "UniProtKB",
"type": "synonym",
"url": "https://www.uniprot.org/uniprot/Q96P20",
"id": "Q96P20"
}
],
"protein_names": [
{
"name": "NACHT, LRR and PYD domains-containing protein 3",
"resource": "UniProtKB",
"type": "recommended",
"url": "",
"id": "Q96P20"
},
{
"name": "3.6.4.-",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "Q96P20"
},
{
"name": "Angiotensin/vasopressin receptor AII/AVP-like",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "Q96P20"
},
{
"name": "CLR1.1",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "Q96P20"
},
{
"name": "Caterpiller protein 1.1",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "Q96P20"
},
{
"name": "Cold-induced autoinflammatory syndrome 1 protein",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "Q96P20"
},
{
"name": "Cryopyrin",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "Q96P20"
},
{
"name": "NACHT, LRR and PYD domains-containing protein 3 isoform e",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001230062",
"id": "NP_001230062"
},
{
"name": "PYRIN-containing APAF1-like protein 1",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "Q96P20"
},
{
"name": "nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3; NACHT, LRR and PYD containing protein 3; NACHT, LRR and PYD domains-containing protein 3; cryopyrin; cold-induced autoinflammatory syndrome 1 protein; PYRIN-containing APAF1-like protein 1; NACHT domain-, leucine-rich repeat-, and PYD-containing protein 3; caterpiller protein 1.1; cold autoinflammatory syndrome 1 protein; deafness, autosomal dominant 34; cryopyrin, NACHT, LRR and PYD domains - containing protein 3",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001230062",
"id": "NP_001230062"
}
],
"function": [
{
"annotation": "A single heterozygous missense mutation (T1058C=L353P) in exon 3 of CIAS1 in all four families that is responsible for the large majority of FCAS cases",
"evidence": [
{
"database": "RefSeq",
"id": "NP_001073289",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073289"
},
{
"database": "PubMed",
"id": "12522564",
"url": "https://glygen.org/publication/PubMed/12522564"
},
{
"database": "RefSeq",
"id": "NP_001230062",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001230062"
}
]
},
{
"annotation": "Acute Glycemic Control in Prediabetes Individuals Favorably Alters Serum NLRP3 Inflammasome and Related Interleukins. Publication Status: Online-Only",
"evidence": [
{
"database": "RefSeq",
"id": "NP_001073289",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073289"
},
{
"database": "PubMed",
"id": "37762140",
"url": "https://glygen.org/publication/PubMed/37762140"
},
{
"database": "RefSeq",
"id": "NP_001230062",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001230062"
}
]
},
{
"annotation": "Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly expressed in polymorphonuclear cells and chondrocytes.",
"evidence": [
{
"database": "RefSeq",
"id": "NP_001073289",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073289"
},
{
"database": "PubMed",
"id": "12032915",
"url": "https://glygen.org/publication/PubMed/12032915"
},
{
"database": "RefSeq",
"id": "NP_001230062",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001230062"
}
]
},
{
"annotation": "Connexin-43 hemichannels orchestrate NOD-like receptor protein-3 (NLRP3) inflammasome activation and sterile inflammation in tubular injury. Publication Status: Online-Only",
"evidence": [
{
"database": "RefSeq",
"id": "NP_001073289",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073289"
},
{
"database": "PubMed",
"id": "37770948",
"url": "https://glygen.org/publication/PubMed/37770948"
},
{
"database": "RefSeq",
"id": "NP_001230062",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001230062"
}
]
},
{
"annotation": "Independently of inflammasome activation, regulates the differentiation of T helper 2 (Th2) cells and has a role in Th2 cell-dependent asthma and tumor growth (By similarity). During Th2 differentiation, required for optimal IRF4 binding to IL4 promoter and for IRF4-dependent IL4 transcription (By similarity). Binds to the consensus DNA sequence 5'-GRRGGNRGAG-3' (By similarity). May also participate in the transcription of IL5, IL13, GATA3, CCR3, CCR4 and MAF (By similarity).",
"evidence": [
{
"database": "UniProtKB",
"id": "Q96P20",
"url": "https://www.uniprot.org/uniprot/Q96P20#function"
},
{
"database": "UniProtKB",
"id": "Q8R4B8",
"url": "https://www.uniprot.org/uniprot/Q8R4B8#function"
}
]
},
{
"annotation": "Sensor component of the NLRP3 inflammasome, which mediates inflammasome activation in response to defects in membrane integrity, leading to secretion of inflammatory cytokines IL1B and IL18 and pyroptosis (PubMed:16407889, PubMed:18604214, PubMed:18403674, PubMed:23582325, PubMed:28847925, PubMed:33231615, PubMed:34133077, PubMed:34341353, PubMed:27929086, PubMed:28656979, PubMed:25686105, PubMed:30487600, PubMed:30612879, PubMed:31086327, PubMed:31086329, PubMed:31189953, PubMed:34512673, PubMed:36442502). In response to pathogens and other damage-associated signals that affect the integrity of membranes, initiates the formation of the inflammasome polymeric complex composed of NLRP3, CASP1 and PYCARD/ASC (PubMed:16407889, PubMed:18403674, PubMed:28847925, PubMed:33231615, PubMed:34133077, PubMed:34341353, PubMed:27432880, PubMed:31189953, PubMed:36142182, PubMed:36442502). Recruitment of pro-caspase-1 (proCASP1) to the NLRP3 inflammasome promotes caspase-1 (CASP1) activation, which subsequently cleaves and activates inflammatory cytokines IL1B and IL18 and gasdermin-D (GSDMD), promoting cytokine secretion and pyroptosis (PubMed:23582325, PubMed:28847925, PubMed:33231615, PubMed:34133077, PubMed:34341353, PubMed:31189953). Activation of NLRP3 inflammasome is also required for HMGB1 secretion; stimulating inflammatory responses (PubMed:22801494). Under resting conditions, ADP-bound NLRP3 is autoinhibited (PubMed:35114687). NLRP3 activation stimuli include extracellular ATP, nigericin, reactive oxygen species, crystals of monosodium urate or cholesterol, amyloid-beta fibers, environmental or industrial particles and nanoparticles, such as asbestos, silica, aluminum salts, cytosolic dsRNA, etc (PubMed:16407889, PubMed:18604214, PubMed:18403674, PubMed:19414800, PubMed:23871209). Almost all stimuli trigger intracellular K(+) efflux (By similarity). These stimuli lead to membrane perturbation and activation of NLRP3 (By similarity). Upon activation, NLRP3 is transported to microtubule organizing center (MTOC), where it is unlocked by NEK7, leading to its relocalization to dispersed trans-Golgi network (dTGN) vesicle membranes and formation of an active inflammasome complex (PubMed:36442502). Associates with dTGN vesicle membranes by binding to phosphatidylinositol 4-phosphate (PtdIns4P) (PubMed:30487600, PubMed:34554188). Shows ATPase activity (PubMed:17483456).",
"evidence": [
{
"database": "UniProtKB",
"id": "Q96P20",
"url": "https://www.uniprot.org/uniprot/Q96P20#function"
},
{
"database": "UniProtKB",
"id": "Q8R4B8",
"url": "https://www.uniprot.org/uniprot/Q8R4B8#function"
},
{
"database": "PubMed",
"id": "22801494",
"url": "https://glygen.org/publication/PubMed/22801494"
},
{
"database": "PubMed",
"id": "34341353",
"url": "https://glygen.org/publication/PubMed/34341353"
},
{
"database": "PubMed",
"id": "23871209",
"url": "https://glygen.org/publication/PubMed/23871209"
},
{
"database": "PubMed",
"id": "17483456",
"url": "https://glygen.org/publication/PubMed/17483456"
},
{
"database": "PubMed",
"id": "30487600",
"url": "https://glygen.org/publication/PubMed/30487600"
},
{
"database": "PubMed",
"id": "18604214",
"url": "https://glygen.org/publication/PubMed/18604214"
},
{
"database": "PubMed",
"id": "16407889",
"url": "https://glygen.org/publication/PubMed/16407889"
},
{
"database": "PubMed",
"id": "19414800",
"url": "https://glygen.org/publication/PubMed/19414800"
},
{
"database": "PubMed",
"id": "18403674",
"url": "https://glygen.org/publication/PubMed/18403674"
},
{
"database": "PubMed",
"id": "25686105",
"url": "https://glygen.org/publication/PubMed/25686105"
},
{
"database": "PubMed",
"id": "30612879",
"url": "https://glygen.org/publication/PubMed/30612879"
},
{
"database": "PubMed",
"id": "34554188",
"url": "https://glygen.org/publication/PubMed/34554188"
},
{
"database": "PubMed",
"id": "27929086",
"url": "https://glygen.org/publication/PubMed/27929086"
},
{
"database": "PubMed",
"id": "28847925",
"url": "https://glygen.org/publication/PubMed/28847925"
},
{
"database": "PubMed",
"id": "31086329",
"url": "https://glygen.org/publication/PubMed/31086329"
},
{
"database": "PubMed",
"id": "31086327",
"url": "https://glygen.org/publication/PubMed/31086327"
},
{
"database": "PubMed",
"id": "36442502",
"url": "https://glygen.org/publication/PubMed/36442502"
},
{
"database": "PubMed",
"id": "27432880",
"url": "https://glygen.org/publication/PubMed/27432880"
},
{
"database": "PubMed",
"id": "35114687",
"url": "https://glygen.org/publication/PubMed/35114687"
},
{
"database": "PubMed",
"id": "31189953",
"url": "https://glygen.org/publication/PubMed/31189953"
},
{
"database": "PubMed",
"id": "28656979",
"url": "https://glygen.org/publication/PubMed/28656979"
},
{
"database": "PubMed",
"id": "23582325",
"url": "https://glygen.org/publication/PubMed/23582325"
},
{
"database": "PubMed",
"id": "36142182",
"url": "https://glygen.org/publication/PubMed/36142182"
},
{
"database": "PubMed",
"id": "34133077",
"url": "https://glygen.org/publication/PubMed/34133077"
},
{
"database": "PubMed",
"id": "33231615",
"url": "https://glygen.org/publication/PubMed/33231615"
}
]
},
{
"annotation": "This gene encodes a pyrin-like protein containing a pyrin domain, a nucleotide-binding site (NBS) domain, and a leucine-rich repeat (LRR) motif. This protein interacts with the apoptosis-associated speck-like protein PYCARD/ASC, which contains a caspase recruitment domain, and is a member of the NLRP3 inflammasome complex. This complex functions as an upstream activator of NF-kappaB signaling, and it plays a role in the regulation of inflammation, the immune response, and apoptosis. The SARS-CoV 3a protein, a transmembrane pore-forming viroporin, has been shown to activate the NLRP3 inflammasome via the formation of ion channels in macrophages. Mutations in this gene are associated with familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome (MWS), chronic infantile neurological cutaneous and articular (CINCA) syndrome, neonatal-onset multisystem inflammatory disease (NOMID), keratoendotheliitis fugax hereditarian, and deafness, autosomal dominant 34, with or without inflammation. Multiple alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. Alternative 5' UTR structures are suggested by available data; however, insufficient evidence is available to determine if all of the represented 5' UTR splice patterns are biologically valid. [provided by RefSeq, Aug 2020].",
"evidence": [
{
"database": "RefSeq",
"id": "NP_001073289",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073289"
},
{
"database": "RefSeq",
"id": "NP_001230062",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001230062"
}
]
}
],
"disease": [
{
"disease_id": "DOID:0050854",
"recommended_name": {
"id": "DOID:0050854",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0050854",
"name": "Muckle-Wells syndrome",
"description": "A syndrome characterized by episodic skin rash, arthralgias, and fever associated with late-onset sensorineural deafness and renal amyloidosis that has_material_basis_in heterozygous mutation in the NLRP3 gene on chromosome 1q44."
},
"synonyms": [
{
"id": "DOID:0050854",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0050854",
"name": "MWS",
"description": ""
},
{
"id": "DOID:0050854",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0050854",
"name": "neutrophilic urticaria",
"description": ""
},
{
"id": "MONDO:0008633",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008633",
"name": "Muckle-Wells syndrome",
"description": "An intermediate form of cryopyrin-associated periodic syndrome (CAPS) and is characterized by recurrent fever (with malaise and chills), recurrent urticaria-like skin rash, sensorineural deafness, general signs of inflammation (eye redness, headaches, arthralgia/myalgia) and potentially life-threatening secondary amyloidosis (AA type)."
},
{
"id": "MONDO:0008633",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008633",
"name": "Muckle-Wells syndrome",
"description": ""
},
{
"id": "MONDO:0008633",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008633",
"name": "neutrophilic urticaria",
"description": ""
},
{
"id": "MONDO:0008633",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008633",
"name": "Cryopyrin-associated periodic syndrome 2",
"description": ""
},
{
"id": "MONDO:0008633",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008633",
"name": "MUCKLE-Wells syndrome",
"description": ""
},
{
"id": "MONDO:0008633",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008633",
"name": "MWS",
"description": ""
},
{
"id": "MONDO:0008633",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008633",
"name": "Muckle Wells syndrome",
"description": ""
},
{
"id": "MONDO:0008633",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008633",
"name": "Uda syndrome",
"description": ""
},
{
"id": "MONDO:0008633",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008633",
"name": "urticaria, deafness and amyloidosis",
"description": ""
},
{
"id": "MONDO:0008633",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008633",
"name": "urticaria-deafness-amyloidosis syndrome",
"description": ""
},
{
"id": "MIM:191900",
"resource": "MIM",
"url": "https://www.omim.org/entry/191900",
"name": "Muckle-Wells syndrome",
"description": "Muckle-Wells syndrome"
}
],
"evidence": [
{
"id": "191900",
"database": "MIM",
"url": "https://www.omim.org/entry/191900"
}
]
},
{
"disease_id": "DOID:0080270",
"recommended_name": {
"id": "DOID:0080270",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0080270",
"name": "autosomal dominant nonsyndromic deafness 34",
"description": "An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the NLRP3 gene on chromosome 1q44."
},
"synonyms": [
{
"id": "MONDO:0033261",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0033261",
"name": "hearing loss, autosomal dominant 34, with or without inflammation",
"description": ""
},
{
"id": "MONDO:0033261",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0033261",
"name": "DFNA34",
"description": ""
},
{
"id": "MONDO:0033261",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0033261",
"name": "autosomal dominant nonsyndromic deafness 34",
"description": ""
},
{
"id": "MONDO:0033261",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0033261",
"name": "deafness, autosomal dominant 34, with or without inflammation",
"description": ""
},
{
"id": "MIM:617772",
"resource": "MIM",
"url": "https://www.omim.org/entry/617772",
"name": "Deafness, autosomal dominant, 34, with or without inflammation",
"description": "Deafness, autosomal dominant, 34, with or without inflammation"
}
],
"evidence": [
{
"id": "617772",
"database": "MIM",
"url": "https://www.omim.org/entry/617772"
}
]
},
{
"disease_id": "DOID:0090029",
"recommended_name": {
"id": "DOID:0090029",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0090029",
"name": "CINCA Syndrome",
"description": "An autoimmune disease characterized by neonatal onset of cutaneous symptoms, chronic meningitis, and joint manifestations with recurrent fever and inflammation that has_material_basis_in heterozygous mutation in the NLRP3 gene on chromosome 1q."
},
"synonyms": [
{
"id": "DOID:0090029",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0090029",
"name": "IOMID syndrome",
"description": ""
},
{
"id": "DOID:0090029",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0090029",
"name": "NOMID syndrome",
"description": ""
},
{
"id": "DOID:0090029",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0090029",
"name": "Prieur-Griscelli syndrome",
"description": ""
},
{
"id": "DOID:0090029",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0090029",
"name": "cryopyrin-associated periodic syndrome 3",
"description": ""
},
{
"id": "DOID:0090029",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0090029",
"name": "infantile-onset multisystem inflammatory disease",
"description": ""
},
{
"id": "DOID:0090029",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0090029",
"name": "neonatal-onset multisystem inflammatory disease",
"description": ""
},
{
"id": "DOID:0090029",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0090029",
"name": "chronic infantile neurological cutaneous articular syndrome",
"description": ""
},
{
"id": "DOID:0090029",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0090029",
"name": "chronic neurologic cutaneous and articular syndrome",
"description": ""
},
{
"id": "MONDO:0011776",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011776",
"name": "CINCA syndrome",
"description": "Chronic Infantile Neurological, Cutaneous, and Articular (CINCA) syndrome is characterized by skin rash, joint involvement, chronic meningitis with granulocytes and, in some cases, sensorineural hearing loss and ocular signs."
},
{
"id": "MONDO:0011776",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011776",
"name": "CINCA syndrome",
"description": ""
},
{
"id": "MONDO:0011776",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011776",
"name": "CINCA/NOMID",
"description": ""
},
{
"id": "MONDO:0011776",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011776",
"name": "IOMID syndrome",
"description": ""
},
{
"id": "MONDO:0011776",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011776",
"name": "NOMID",
"description": ""
},
{
"id": "MONDO:0011776",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011776",
"name": "NOMID syndrome",
"description": ""
},
{
"id": "MONDO:0011776",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011776",
"name": "Prieur-Griscelli syndrome",
"description": ""
},
{
"id": "MONDO:0011776",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011776",
"name": "chronic infantile neurological cutaneous and articular syndrome",
"description": ""
},
{
"id": "MONDO:0011776",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011776",
"name": "chronic infantile neurological cutaneous articular syndrome",
"description": ""
},
{
"id": "MONDO:0011776",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011776",
"name": "chronic neurologic cutaneous and articular syndrome",
"description": ""
},
{
"id": "MONDO:0011776",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011776",
"name": "cryopyrin-associated periodic syndrome 3",
"description": ""
},
{
"id": "MONDO:0011776",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011776",
"name": "infantile-onset multisystem inflammatory disease",
"description": ""
},
{
"id": "MONDO:0011776",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011776",
"name": "neonatal-onset multisystem inflammatory disease",
"description": ""
},
{
"id": "MONDO:0011776",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011776",
"name": "CINCA",
"description": ""
},
{
"id": "MONDO:0011776",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011776",
"name": "Cryopyrin-associated periodic syndrome 3",
"description": ""
},
{
"id": "MONDO:0011776",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011776",
"name": "IOMID",
"description": ""
},
{
"id": "MONDO:0011776",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011776",
"name": "Prieur Griscelli syndrome",
"description": ""
},
{
"id": "MONDO:0011776",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011776",
"name": "infantile onset multisystem inflammatory disease",
"description": ""
},
{
"id": "MONDO:0011776",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011776",
"name": "multisystem inflammatory disease, neonatal-onset",
"description": ""
},
{
"id": "MONDO:0011776",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011776",
"name": "neonatal onset multisystem inflammatory disease",
"description": ""
},
{
"id": "MIM:607115",
"resource": "MIM",
"url": "https://www.omim.org/entry/607115",
"name": "Chronic infantile neurologic cutaneous and articular syndrome",
"description": "Chronic infantile neurologic cutaneous and articular syndrome"
}
],
"evidence": [
{
"id": "607115",
"database": "MIM",
"url": "https://www.omim.org/entry/607115"
}
]
},
{
"disease_id": "DOID:0090061",
"recommended_name": {
"id": "DOID:0090061",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0090061",
"name": "familial cold autoinflammatory syndrome",
"description": "A primary immunodeficiency disease characterized by recurrent episodes of maculopapular skin rash triggered by exposure to cold associated with low-grade fever, general malaise, eye redness and arthralgia/myalgia."
},
"synonyms": [
{
"id": "MONDO:0007349",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007349",
"name": "familial cold autoinflammatory syndrome 1",
"description": "Any familial cold autoinflammatory syndrome in which the cause of the disease is a mutation in the NLRP3 gene."
},
{
"id": "MONDO:0007349",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007349",
"name": "NLRP3 familial cold autoinflammatory syndrome",
"description": ""
},
{
"id": "MONDO:0007349",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007349",
"name": "familial cold autoinflammatory syndrome 1",
"description": ""
},
{
"id": "MONDO:0007349",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007349",
"name": "familial cold autoinflammatory syndrome caused by mutation in NLRP3",
"description": ""
},
{
"id": "MONDO:0007349",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007349",
"name": "familial cold autoinflammatory syndrome type 1",
"description": ""
},
{
"id": "MONDO:0007349",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007349",
"name": "familial cold inflammatory syndrome 1",
"description": ""
},
{
"id": "MONDO:0007349",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007349",
"name": "Cryopyrin-associated periodic syndrome 1",
"description": ""
},
{
"id": "MONDO:0007349",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007349",
"name": "FCAS1",
"description": ""
},
{
"id": "MONDO:0007349",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007349",
"name": "Fcas",
"description": ""
},
{
"id": "MONDO:0007349",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007349",
"name": "cold hypersensitivity",
"description": ""
},
{
"id": "MONDO:0007349",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007349",
"name": "cold urticaria, familial",
"description": ""
},
{
"id": "MONDO:0007349",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007349",
"name": "cold-induced autoinflammatory syndrome, familial",
"description": ""
},
{
"id": "MIM:120100",
"resource": "MIM",
"url": "https://www.omim.org/entry/120100",
"name": "Familial cold autoinflammatory syndrome 1",
"description": "Familial cold autoinflammatory syndrome 1"
}
],
"evidence": [
{
"id": "120100",
"database": "MIM",
"url": "https://www.omim.org/entry/120100"
}
]
},
{
"disease_id": "DOID:0090062",
"recommended_name": {
"id": "DOID:0090062",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0090062",
"name": "familial cold autoinflammatory syndrome 1",
"description": "A familial cold autoinflammatory syndrome characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the NLRP gene on chromosome 1q44."
},
"synonyms": [
{
"id": "MONDO:0007349",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007349",
"name": "familial cold autoinflammatory syndrome 1",
"description": "Any familial cold autoinflammatory syndrome in which the cause of the disease is a mutation in the NLRP3 gene."
},
{
"id": "MONDO:0007349",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007349",
"name": "NLRP3 familial cold autoinflammatory syndrome",
"description": ""
},
{
"id": "MONDO:0007349",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007349",
"name": "familial cold autoinflammatory syndrome 1",
"description": ""
},
{
"id": "MONDO:0007349",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007349",
"name": "familial cold autoinflammatory syndrome caused by mutation in NLRP3",
"description": ""
},
{
"id": "MONDO:0007349",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007349",
"name": "familial cold autoinflammatory syndrome type 1",
"description": ""
},
{
"id": "MONDO:0007349",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007349",
"name": "familial cold inflammatory syndrome 1",
"description": ""
},
{
"id": "MONDO:0007349",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007349",
"name": "Cryopyrin-associated periodic syndrome 1",
"description": ""
},
{
"id": "MONDO:0007349",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007349",
"name": "FCAS1",
"description": ""
},
{
"id": "MONDO:0007349",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007349",
"name": "Fcas",
"description": ""
},
{
"id": "MONDO:0007349",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007349",
"name": "cold hypersensitivity",
"description": ""
},
{
"id": "MONDO:0007349",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007349",
"name": "cold urticaria, familial",
"description": ""
},
{
"id": "MONDO:0007349",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007349",
"name": "cold-induced autoinflammatory syndrome, familial",
"description": ""
},
{
"id": "MIM:120100",
"resource": "MIM",
"url": "https://www.omim.org/entry/120100",
"name": "Familial cold autoinflammatory syndrome 1",
"description": "Familial cold autoinflammatory syndrome 1"
}
],
"evidence": [
{
"id": "120100",
"database": "MIM",
"url": "https://www.omim.org/entry/120100"
}
]
},
{
"disease_id": "MONDO:0007849",
"recommended_name": {
"id": "MONDO:0007849",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007849",
"name": "keratitis fugax hereditaria",
"description": ""
},
"synonyms": [
{
"id": "MONDO:0007849",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007849",
"name": "keratitis fugax hereditaria",
"description": ""
},
{
"id": "MONDO:0007849",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007849",
"name": "keratoendotheliitis fugax hereditaria",
"description": ""
},
{
"id": "MONDO:0007849",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007849",
"name": "keratoendothelitis fugax hereditaria",
"description": ""
},
{
"id": "MONDO:0007849",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007849",
"name": "KEFH",
"description": ""
},
{
"id": "MONDO:0007849",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007849",
"name": "KERATOENDOTHELIITIS fugax hereditaria",
"description": ""
},
{
"id": "MONDO:0007849",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007849",
"name": "Keratoendotheliitis fugax hereditaria",
"description": ""
},
{
"id": "MIM:148200",
"resource": "MIM",
"url": "https://www.omim.org/entry/148200",
"name": "Keratoendothelitis fugax hereditaria",
"description": "Keratoendothelitis fugax hereditaria"
}
],
"evidence": [
{
"id": "148200",
"database": "MIM",
"url": "https://www.omim.org/entry/148200"
}
]
}
],
"snv": [],
"mutagenesis": [
{
"start_pos": 1035,
"end_pos": 1035,
"sequence_org": "S",
"sequence_mut": "A",
"comment": "Does not affect activation of the NLRP3 inflammasome.",
"evidence": [
{
"database": "UniProtKB",
"id": "Q96P20",
"url": "https://www.uniprot.org/uniprot/Q96P20"
},
{
"database": "PubMed",
"id": "34615873",
"url": "https://glygen.org/publication/PubMed/34615873"
}
]
},
{
"start_pos": 136,
"end_pos": 143,
"sequence_org": "YRKKYRKY",
"sequence_mut": "FRKKFRKF",
"comment": "Decreased phosphorylation by BTK; when associated with F-168.",
"evidence": [
{
"database": "UniProtKB",
"id": "Q96P20",
"url": "https://www.uniprot.org/uniprot/Q96P20"
},
{
"database": "PubMed",
"id": "34554188",
"url": "https://glygen.org/publication/PubMed/34554188"
}
]
},
{
"start_pos": 143,
"end_pos": 143,
"sequence_org": "Y",
"sequence_mut": "R",
"comment": "Decreased ability to activate the NLRP3 inflammasome.",
"evidence": [
{
"database": "UniProtKB",
"id": "Q96P20",
"url": "https://www.uniprot.org/uniprot/Q96P20"
},
{
"database": "PubMed",
"id": "36142182",
"url": "https://glygen.org/publication/PubMed/36142182"
}
]
},
{
"start_pos": 147,
"end_pos": 147,
"sequence_org": "R",
"sequence_mut": "E",
"comment": "Impaired ability to activate the NLRP3 inflammasome.",
"evidence": [
{
"database": "UniProtKB",
"id": "Q96P20",
"url": "https://www.uniprot.org/uniprot/Q96P20"
},
{
"database": "PubMed",
"id": "36442502",
"url": "https://glygen.org/publication/PubMed/36442502"
}
]
},
{
"start_pos": 152,
"end_pos": 152,
"sequence_org": "E",
"sequence_mut": "R",
"comment": "Impaired ability to activate the NLRP3 inflammasome.",
"evidence": [
{
"database": "UniProtKB",
"id": "Q96P20",
"url": "https://www.uniprot.org/uniprot/Q96P20"
},
{
"database": "PubMed",
"id": "36442502",
"url": "https://glygen.org/publication/PubMed/36442502"
}
]
},
{
"start_pos": 155,
"end_pos": 155,
"sequence_org": "N",
"sequence_mut": "A",
"comment": "Impaired ability to activate the NLRP3 inflammasome.",
"evidence": [
{
"database": "UniProtKB",
"id": "Q96P20",
"url": "https://www.uniprot.org/uniprot/Q96P20"
},
{
"database": "PubMed",
"id": "36442502",
"url": "https://glygen.org/publication/PubMed/36442502"
}
]
},
{
"start_pos": 157,
"end_pos": 157,
"sequence_org": "R",
"sequence_mut": "E",
"comment": "Impaired ability to activate the NLRP3 inflammasome.",
"evidence": [
{
"database": "UniProtKB",
"id": "Q96P20",
"url": "https://www.uniprot.org/uniprot/Q96P20"
},
{
"database": "PubMed",
"id": "36442502",
"url": "https://glygen.org/publication/PubMed/36442502"
}
]
},
{
"start_pos": 15,
"end_pos": 15,
"sequence_org": "E",
"sequence_mut": "R",
"comment": "Impaired ability to homooligomerize into ordered polymers. Complete loss of PYCARD/ASC filament nucleation.",
"evidence": [
{
"database": "UniProtKB",
"id": "Q96P20",
"url": "https://www.uniprot.org/uniprot/Q96P20"
},
{
"database": "PubMed",
"id": "24630722",
"url": "https://glygen.org/publication/PubMed/24630722"
},
{
"database": "PubMed",
"id": "35559676",
"url": "https://glygen.org/publication/PubMed/35559676"
}
]
},
{
"start_pos": 166,
"end_pos": 166,
"sequence_org": "K",
"sequence_mut": "E",
"comment": "Impaired ability to activate the NLRP3 inflammasome.",
"evidence": [
{
"database": "UniProtKB",
"id": "Q96P20",
"url": "https://www.uniprot.org/uniprot/Q96P20"
},
{
"database": "PubMed",
"id": "36442502",
"url": "https://glygen.org/publication/PubMed/36442502"
}
]
},
{
"start_pos": 168,
"end_pos": 168,
"sequence_org": "Y",
"sequence_mut": "F",
"comment": "Decreased phosphorylation by BTK; when associated with 136-F--F-143.",
"evidence": [
{
"database": "UniProtKB",
"id": "Q96P20",
"url": "https://www.uniprot.org/uniprot/Q96P20"
},
{
"database": "PubMed",
"id": "34554188",
"url": "https://glygen.org/publication/PubMed/34554188"
}
]
},
{
"start_pos": 176,
"end_pos": 176,
"sequence_org": "E",
"sequence_mut": "R",
"comment": "Impaired ability to activate the NLRP3 inflammasome.",
"evidence": [
{
"database": "UniProtKB",
"id": "Q96P20",
"url": "https://www.uniprot.org/uniprot/Q96P20"
},
{
"database": "PubMed",
"id": "36442502",
"url": "https://glygen.org/publication/PubMed/36442502"
}
]
},
{
"start_pos": 198,
"end_pos": 198,
"sequence_org": "S",
"sequence_mut": "A",
"comment": "Abolished phosphorylation by MAPK8/JNK1; decreased activation of the NLRP3 inflammasome.",
"evidence": [
{
"database": "UniProtKB",
"id": "Q96P20",
"url": "https://www.uniprot.org/uniprot/Q96P20"
},
{
"database": "PubMed",
"id": "27929086",
"url": "https://glygen.org/publication/PubMed/27929086"
}
]
},
{
"start_pos": 198,
"end_pos": 198,
"sequence_org": "S",
"sequence_mut": "D",
"comment": "Mimicks phosphorylation state; increased activation of the NLRP3 inflammasome.",
"evidence": [
{
"database": "UniProtKB",
"id": "Q96P20",
"url": "https://www.uniprot.org/uniprot/Q96P20"
},
{
"database": "PubMed",
"id": "27929086",
"url": "https://glygen.org/publication/PubMed/27929086"
}
]
},
{
"start_pos": 198,
"end_pos": 198,
"sequence_org": "S",
"sequence_mut": "E",
"comment": "Mimicks phosphorylation state; increased activation of the NLRP3 inflammasome.",
"evidence": [
{
"database": "UniProtKB",
"id": "Q96P20",
"url": "https://www.uniprot.org/uniprot/Q96P20"
},
{
"database": "PubMed",
"id": "27929086",
"url": "https://glygen.org/publication/PubMed/27929086"
}
]
},
{
"start_pos": 213,
"end_pos": 213,
"sequence_org": "D",
"sequence_mut": "R",
"comment": "Does not affect ability to activate the NLRP3 inflammasome.",
"evidence": [
{
"database": "UniProtKB",
"id": "Q96P20",
"url": "https://www.uniprot.org/uniprot/Q96P20"
},
{
"database": "PubMed",
"id": "36442502",
"url": "https://glygen.org/publication/PubMed/36442502"
}
]
},
{
"start_pos": 228,
"end_pos": 228,
"sequence_org": "A",
"sequence_mut": "Q",
"comment": "Abolished binding to small-inhibitor MCC950 and ability to activate the NLRP3 inflammasome following stimulation with nigericin.",
"evidence": [
{
"database": "UniProtKB",
"id": "Q96P20",
"url": "https://www.uniprot.org/uniprot/Q96P20"
},
{
"database": "PubMed",
"id": "35114687",
"url": "https://glygen.org/publication/PubMed/35114687"
}
]
},
{
"start_pos": 22,
"end_pos": 23,
"sequence_org": "LK",
"sequence_mut": "PA",
"comment": "Loss of PYCARD/ASC-binding. No effect on GBP5-binding.",
"evidence": [
{
"database": "UniProtKB",
"id": "Q96P20",
"url": "https://www.uniprot.org/uniprot/Q96P20"
},
{
"database": "PubMed",
"id": "22461501",
"url": "https://glygen.org/publication/PubMed/22461501"
}
]
},
{
"start_pos": 231,
"end_pos": 233,
"sequence_org": "GKT",
"sequence_mut": "AAA",
"comment": "In Walker A mutant; abolished ATPase activity. Reduced ATP-binding leading to decreased activation of the NLRP3 inflammasome.",
"evidence": [
{
"database": "UniProtKB",
"id": "Q96P20",
"url": "https://www.uniprot.org/uniprot/Q96P20"
},
{
"database": "PubMed",
"id": "17483456",
"url": "https://glygen.org/publication/PubMed/17483456"
},
{
"database": "PubMed",
"id": "31086327",
"url": "https://glygen.org/publication/PubMed/31086327"
}
]
},
{
"start_pos": 23,
"end_pos": 23,
"sequence_org": "K",
"sequence_mut": "E",
"comment": "Complete loss of PYCARD/ASC filament nucleation; when associated with E-24.",
"evidence": [
{
"database": "UniProtKB",
"id": "Q96P20",
"url": "https://www.uniprot.org/uniprot/Q96P20"
},
{
"database": "PubMed",
"id": "24630722",
"url": "https://glygen.org/publication/PubMed/24630722"
}
]
},
{
"start_pos": 23,
"end_pos": 24,
"sequence_org": "KK",
"sequence_mut": "EE",
"comment": "Impaired ability to homooligomerize into ordered polymers. Complete loss of PYCARD/ASC filament nucleation.",
"evidence": [
{
"database": "UniProtKB",
"id": "Q96P20",
"url": "https://www.uniprot.org/uniprot/Q96P20"
},
{
"database": "PubMed",
"id": "35559676",
"url": "https://glygen.org/publication/PubMed/35559676"
}
]
},
{
"start_pos": 24,
"end_pos": 24,
"sequence_org": "K",
"sequence_mut": "E",
"comment": "Complete loss of PYCARD/ASC filament nucleation; when associated with E-23.",
"evidence": [
{
"database": "UniProtKB",
"id": "Q96P20",
"url": "https://www.uniprot.org/uniprot/Q96P20"
},
{
"database": "PubMed",
"id": "24630722",
"url": "https://glygen.org/publication/PubMed/24630722"
}
]
},
{
"start_pos": 27,
"end_pos": 27,
"sequence_org": "M",
"sequence_mut": "E",
"comment": "Impaired ability to homooligomerize into ordered polymers. Complete loss of PYCARD/ASC filament nucleation.",
"evidence": [
{
"database": "UniProtKB",
"id": "Q96P20",
"url": "https://www.uniprot.org/uniprot/Q96P20"
},
{
"database": "PubMed",
"id": "24630722",
"url": "https://glygen.org/publication/PubMed/24630722"
},
{
"database": "PubMed",
"id": "35559676",
"url": "https://glygen.org/publication/PubMed/35559676"
}
]
},
{
"start_pos": 2,
"end_pos": 7,
"sequence_org": "KMASTR",
"sequence_mut": "",
"comment": "Strongly decreased interaction with MAVS and localization to mitochondria.",
"evidence": [
{
"database": "UniProtKB",
"id": "Q96P20",
"url": "https://www.uniprot.org/uniprot/Q96P20"
},
{
"database": "PubMed",
"id": "23582325",
"url": "https://glygen.org/publication/PubMed/23582325"
}
]
},
{
"start_pos": 302,
"end_pos": 306,
"sequence_org": "DGFDE",
"sequence_mut": "AGFAA",
"comment": "In Walker B mutant; abolished ATPase activity. Abolished binding to small-inhibitor MCC950.",
"evidence": [
{
"database": "UniProtKB",
"id": "Q96P20",
"url": "https://www.uniprot.org/uniprot/Q96P20"
},
{
"database": "PubMed",
"id": "31086329",
"url": "https://glygen.org/publication/PubMed/31086329"
},
{
"database": "PubMed",
"id": "31086327",
"url": "https://glygen.org/publication/PubMed/31086327"
}
]
},
{
"start_pos": 302,
"end_pos": 306,
"sequence_org": "DGFDE",
"sequence_mut": "AGFNA",
"comment": "In Walker B mutant; abolished ATPase activity. Abolished binding to small-inhibitor MCC950.",
"evidence": [
{
"database": "UniProtKB",
"id": "Q96P20",
"url": "https://www.uniprot.org/uniprot/Q96P20"
},
{
"database": "PubMed",
"id": "31086329",
"url": "https://glygen.org/publication/PubMed/31086329"
},
{
"database": "PubMed",
"id": "31086327",
"url": "https://glygen.org/publication/PubMed/31086327"
}
]
},
{
"start_pos": 31,
"end_pos": 31,
"sequence_org": "D",
"sequence_mut": "V",
"comment": "Impaired ability to homooligomerize into ordered polymers. Decreased PYCARD/ASC filament nucleation.",
"evidence": [
{
"database": "UniProtKB",
"id": "Q96P20",
"url": "https://www.uniprot.org/uniprot/Q96P20"
},
{
"database": "PubMed",
"id": "35559676",
"url": "https://glygen.org/publication/PubMed/35559676"
}
]
},
{
"start_pos": 351,
"end_pos": 351,
"sequence_org": "R",
"sequence_mut": "T",
"comment": "Abolished binding to small-inhibitor MCC950 and ability to activate the NLRP3 inflammasome following stimulation with nigericin.",
"evidence": [
{
"database": "UniProtKB",
"id": "Q96P20",
"url": "https://www.uniprot.org/uniprot/Q96P20"
},
{
"database": "PubMed",
"id": "35114687",
"url": "https://glygen.org/publication/PubMed/35114687"
}
]
},
{
"start_pos": 359,
"end_pos": 359,
"sequence_org": "Q",
"sequence_mut": "A",
"comment": "Decreased interaction with HSPA8/HSC70 and NLRP3 degradation by the chaperone-mediated autophagy pathway.",
"evidence": [
{
"database": "UniProtKB",
"id": "Q96P20",
"url": "https://www.uniprot.org/uniprot/Q96P20"
},
{
"database": "PubMed",
"id": "36586411",
"url": "https://glygen.org/publication/PubMed/36586411"
}
]
},
{
"start_pos": 359,
"end_pos": 359,
"sequence_org": "Q",
"sequence_mut": "A",
"comment": "Does not affect ability to activate the NLRP3 inflammasome.",
"evidence": [
{
"database": "UniProtKB",
"id": "Q96P20",
"url": "https://www.uniprot.org/uniprot/Q96P20"
},
{
"database": "PubMed",
"id": "36442502",
"url": "https://glygen.org/publication/PubMed/36442502"
},
{
"database": "PubMed",
"id": "31189953",
"url": "https://glygen.org/publication/PubMed/31189953"
}
]
},
{
"start_pos": 359,
"end_pos": 359,
"sequence_org": "Q",
"sequence_mut": "R",
"comment": "Does not affect ability to activate the NLRP3 inflammasome.",
"evidence": [
{
"database": "UniProtKB",
"id": "Q96P20",
"url": "https://www.uniprot.org/uniprot/Q96P20"
},
{
"database": "PubMed",
"id": "36442502",
"url": "https://glygen.org/publication/PubMed/36442502"
},
{
"database": "PubMed",
"id": "31189953",
"url": "https://glygen.org/publication/PubMed/31189953"
}
]
},
{
"start_pos": 364,
"end_pos": 364,
"sequence_org": "H",
"sequence_mut": "E",
"comment": "Does not affect ability to activate the NLRP3 inflammasome.",
"evidence": [
{
"database": "UniProtKB",
"id": "Q96P20",
"url": "https://www.uniprot.org/uniprot/Q96P20"
},
{
"database": "PubMed",
"id": "36442502",
"url": "https://glygen.org/publication/PubMed/36442502"
}
]
},
{
"start_pos": 424,
"end_pos": 424,
"sequence_org": "Q",
"sequence_mut": "A",
"comment": "Impaired ability to activate the NLRP3 inflammasome.",
"evidence": [
{
"database": "UniProtKB",
"id": "Q96P20",
"url": "https://www.uniprot.org/uniprot/Q96P20"
},
{
"database": "PubMed",
"id": "36442502",
"url": "https://glygen.org/publication/PubMed/36442502"
}
]
},
{
"start_pos": 43,
"end_pos": 43,
"sequence_org": "R",
"sequence_mut": "E",
"comment": "Impaired ability to homooligomerize into ordered polymers.",
"evidence": [
{
"database": "UniProtKB",
"id": "Q96P20",
"url": "https://www.uniprot.org/uniprot/Q96P20"
},
{
"database": "PubMed",
"id": "35559676",
"url": "https://glygen.org/publication/PubMed/35559676"
}
]
},
{
"start_pos": 43,
"end_pos": 43,
"sequence_org": "R",
"sequence_mut": "W",
"comment": "Complete loss of PYCARD/ASC filament nucleation. Decreased PYCARD/ASC filament nucleation.",
"evidence": [
{
"database": "UniProtKB",
"id": "Q96P20",
"url": "https://www.uniprot.org/uniprot/Q96P20"
},
{
"database": "PubMed",
"id": "24630722",
"url": "https://glygen.org/publication/PubMed/24630722"
}
]
},
{
"start_pos": 509,
"end_pos": 509,
"sequence_org": "Q",
"sequence_mut": "A",
"comment": "Impaired ability to activate the NLRP3 inflammasome.",
"evidence": [
{
"database": "UniProtKB",
"id": "Q96P20",
"url": "https://www.uniprot.org/uniprot/Q96P20"
},
{
"database": "PubMed",
"id": "36442502",
"url": "https://glygen.org/publication/PubMed/36442502"
}
]
},
{
"start_pos": 51,
"end_pos": 51,
"sequence_org": "H",
"sequence_mut": "R",
"comment": "Does not affect ability to homooligomerize into ordered polymers.",
"evidence": [
{
"database": "UniProtKB",
"id": "Q96P20",
"url": "https://www.uniprot.org/uniprot/Q96P20"
},
{
"database": "PubMed",
"id": "35559676",
"url": "https://glygen.org/publication/PubMed/35559676"
}
]
},
{
"start_pos": 52,
"end_pos": 52,
"sequence_org": "V",
"sequence_mut": "G",
"comment": "Decreased interaction with MAPK4.",
"evidence": [
{
"database": "UniProtKB",
"id": "Q96P20",
"url": "https://www.uniprot.org/uniprot/Q96P20"
},
{
"database": "PubMed",
"id": "28656979",
"url": "https://glygen.org/publication/PubMed/28656979"
}
]
},
{
"start_pos": 578,
"end_pos": 578,
"sequence_org": "R",
"sequence_mut": "A",
"comment": "Abolished binding to small-inhibitor MCC950 and ability to activate the NLRP3 inflammasome following stimulation with nigericin.",
"evidence": [
{
"database": "UniProtKB",
"id": "Q96P20",
"url": "https://www.uniprot.org/uniprot/Q96P20"
},
{
"database": "PubMed",
"id": "35114687",
"url": "https://glygen.org/publication/PubMed/35114687"
}
]
},
{
"start_pos": 5,
"end_pos": 5,
"sequence_org": "S",
"sequence_mut": "A",
"comment": "Decreased phosphorylation; increased activation of the NLRP3 inflammasome.",
"evidence": [
{
"database": "UniProtKB",
"id": "Q96P20",
"url": "https://www.uniprot.org/uniprot/Q96P20"
},
{
"database": "PubMed",
"id": "28465465",
"url": "https://glygen.org/publication/PubMed/28465465"
}
]
},
{
"start_pos": 5,
"end_pos": 5,
"sequence_org": "S",
"sequence_mut": "D",
"comment": "Mimics phosphorylation state; decreased activation of the NLRP3 inflammasome.",
"evidence": [
{
"database": "UniProtKB",
"id": "Q96P20",
"url": "https://www.uniprot.org/uniprot/Q96P20"
},
{
"database": "PubMed",
"id": "28465465",
"url": "https://glygen.org/publication/PubMed/28465465"
}
]
},
{
"start_pos": 5,
"end_pos": 5,
"sequence_org": "S",
"sequence_mut": "E",
"comment": "Mimics phosphorylation state; decreased activation of the NLRP3 inflammasome.",
"evidence": [
{
"database": "UniProtKB",
"id": "Q96P20",
"url": "https://www.uniprot.org/uniprot/Q96P20"
},
{
"database": "PubMed",
"id": "28465465",
"url": "https://glygen.org/publication/PubMed/28465465"
}
]
},
{
"start_pos": 603,
"end_pos": 603,
"sequence_org": "Q",
"sequence_mut": "A",
"comment": "Decreased interaction with HSPA8/HSC70 and NLRP3 degradation by the chaperone-mediated autophagy pathway.",
"evidence": [
{
"database": "UniProtKB",
"id": "Q96P20",
"url": "https://www.uniprot.org/uniprot/Q96P20"
},
{
"database": "PubMed",
"id": "36586411",
"url": "https://glygen.org/publication/PubMed/36586411"
}
]
},
{
"start_pos": 619,
"end_pos": 621,
"sequence_org": "KKL",
"sequence_mut": "EEA",
"comment": "Does not affect autoinhibition of the protein.",
"evidence": [
{
"database": "UniProtKB",
"id": "Q96P20",
"url": "https://www.uniprot.org/uniprot/Q96P20"
},
{
"database": "PubMed",
"id": "35114687",
"url": "https://glygen.org/publication/PubMed/35114687"
}
]
},
{
"start_pos": 638,
"end_pos": 640,
"sequence_org": "QEE",
"sequence_mut": "RRR",
"comment": "Strongly decreased ability to activate the NLRP3 inflammasome.",
"evidence": [
{
"database": "UniProtKB",
"id": "Q96P20",
"url": "https://www.uniprot.org/uniprot/Q96P20"
},
{
"database": "PubMed",
"id": "31189953",
"url": "https://glygen.org/publication/PubMed/31189953"
}
]
},
{
"start_pos": 64,
"end_pos": 64,
"sequence_org": "E",
"sequence_mut": "R",
"comment": "Complete loss of PYCARD/ASC filament nucleation.",
"evidence": [
{
"database": "UniProtKB",
"id": "Q96P20",
"url": "https://www.uniprot.org/uniprot/Q96P20"
},
{
"database": "PubMed",
"id": "24630722",
"url": "https://glygen.org/publication/PubMed/24630722"
}
]
},
{
"start_pos": 689,
"end_pos": 689,
"sequence_org": "K",
"sequence_mut": "R",
"comment": "Abolished ubiquitination by the SCF(FBXL2) complex.",
"evidence": [
{
"database": "UniProtKB",
"id": "Q96P20",
"url": "https://www.uniprot.org/uniprot/Q96P20"
},
{
"database": "PubMed",
"id": "26037928",
"url": "https://glygen.org/publication/PubMed/26037928"
}
]
},
{
"start_pos": 689,
"end_pos": 698,
"sequence_org": "KEEEEEEKEG",
"sequence_mut": "",
"comment": "Loss of autoinhibition of the protein.",
"evidence": [
{
"database": "UniProtKB",
"id": "Q96P20",
"url": "https://www.uniprot.org/uniprot/Q96P20"
},
{
"database": "PubMed",
"id": "35114687",
"url": "https://glygen.org/publication/PubMed/35114687"
}
]
},
{
"start_pos": 68,
"end_pos": 68,
"sequence_org": "W",
"sequence_mut": "A",
"comment": "Does not affect ubiquitination by the SCF(FBXL2) complex.",
"evidence": [
{
"database": "UniProtKB",
"id": "Q96P20",
"url": "https://www.uniprot.org/uniprot/Q96P20"
},
{
"database": "PubMed",
"id": "26037928",
"url": "https://glygen.org/publication/PubMed/26037928"
}
]
},
{
"start_pos": 707,
"end_pos": 707,
"sequence_org": "V",
"sequence_mut": "R",
"comment": "Decreased ability to activate the NLRP3 inflammasome.",
"evidence": [
{
"database": "UniProtKB",
"id": "Q96P20",
"url": "https://www.uniprot.org/uniprot/Q96P20"
},
{
"database": "PubMed",
"id": "31189953",
"url": "https://glygen.org/publication/PubMed/31189953"
}
]
},
{
"start_pos": 735,
"end_pos": 735,
"sequence_org": "S",
"sequence_mut": "A",
"comment": "Does not affect activation of the NLRP3 inflammasome.",
"evidence": [
{
"database": "UniProtKB",
"id": "Q96P20",
"url": "https://www.uniprot.org/uniprot/Q96P20"
},
{
"database": "PubMed",
"id": "34615873",
"url": "https://glygen.org/publication/PubMed/34615873"
}
]
},
{
"start_pos": 73,
"end_pos": 73,
"sequence_org": "W",
"sequence_mut": "A",
"comment": "Decreased ubiquitination by the SCF(FBXL2) complex.",
"evidence": [
{
"database": "UniProtKB",
"id": "Q96P20",
"url": "https://www.uniprot.org/uniprot/Q96P20"
},
{
"database": "PubMed",
"id": "26037928",
"url": "https://glygen.org/publication/PubMed/26037928"
}
]
},
{
"start_pos": 745,
"end_pos": 745,
"sequence_org": "E",
"sequence_mut": "R",
"comment": "Abolished ability to activate the NLRP3 inflammasome.",
"evidence": [
{
"database": "UniProtKB",
"id": "Q96P20",
"url": "https://www.uniprot.org/uniprot/Q96P20"
},
{
"database": "PubMed",
"id": "31189953",
"url": "https://glygen.org/publication/PubMed/31189953"
}
]
},
{
"start_pos": 750,
"end_pos": 750,
"sequence_org": "D",
"sequence_mut": "R",
"comment": "Abolished ability to activate the NLRP3 inflammasome.",
"evidence": [
{
"database": "UniProtKB",
"id": "Q96P20",
"url": "https://www.uniprot.org/uniprot/Q96P20"
},
{
"database": "PubMed",
"id": "31189953",
"url": "https://glygen.org/publication/PubMed/31189953"
}
]
},
{
"start_pos": 77,
"end_pos": 77,
"sequence_org": "A",
"sequence_mut": "V",
"comment": "Induces the formation of short but ordered homopolymers.",
"evidence": [
{
"database": "UniProtKB",
"id": "Q96P20",
"url": "https://www.uniprot.org/uniprot/Q96P20"
},
{
"database": "PubMed",
"id": "35559676",
"url": "https://glygen.org/publication/PubMed/35559676"
}
]
},
{
"start_pos": 788,
"end_pos": 788,
"sequence_org": "F",
"sequence_mut": "E",
"comment": "Slightly decreased ability to activate the NLRP3 inflammasome; when associated with E-813.",
"evidence": [
{
"database": "UniProtKB",
"id": "Q96P20",
"url": "https://www.uniprot.org/uniprot/Q96P20"
},
{
"database": "PubMed",
"id": "36142182",
"url": "https://glygen.org/publication/PubMed/36142182"
}
]
},
{
"start_pos": 788,
"end_pos": 789,
"sequence_org": "FD",
"sequence_mut": "AR",
"comment": "Slightly impaired autoinhibition of the protein; when associated with A-831.",
"evidence": [
{
"database": "UniProtKB",
"id": "Q96P20",
"url": "https://www.uniprot.org/uniprot/Q96P20"
},
{
"database": "PubMed",
"id": "35114687",
"url": "https://glygen.org/publication/PubMed/35114687"
}
]
},
{
"start_pos": 789,
"end_pos": 789,
"sequence_org": "D",
"sequence_mut": "R",
"comment": "Slightly decreased ability to activate the NLRP3 inflammasome; when associated with D-816.",
"evidence": [
{
"database": "UniProtKB",
"id": "Q96P20",
"url": "https://www.uniprot.org/uniprot/Q96P20"
},
{
"database": "PubMed",
"id": "36142182",
"url": "https://glygen.org/publication/PubMed/36142182"
}
]
},
{
"start_pos": 798,
"end_pos": 798,
"sequence_org": "Q",
"sequence_mut": "A",
"comment": "Decreased interaction with HSPA8/HSC70 and NLRP3 degradation by the chaperone-mediated autophagy pathway.",
"evidence": [
{
"database": "UniProtKB",
"id": "Q96P20",
"url": "https://www.uniprot.org/uniprot/Q96P20"
},
{
"database": "PubMed",
"id": "36586411",
"url": "https://glygen.org/publication/PubMed/36586411"
}
]
},
{
"start_pos": 7,
"end_pos": 12,
"sequence_org": "RCKLAR",
"sequence_mut": "ACALAA",
"comment": "Abolished formation of the NLRP3 inflammasome.",
"evidence": [
{
"database": "UniProtKB",
"id": "Q96P20",
"url": "https://www.uniprot.org/uniprot/Q96P20"
},
{
"database": "PubMed",
"id": "28465465",
"url": "https://glygen.org/publication/PubMed/28465465"
}
]
},
{
"start_pos": 7,
"end_pos": 7,
"sequence_org": "R",
"sequence_mut": "E",
"comment": "Impaired ability to homooligomerize into ordered polymers.",
"evidence": [
{
"database": "UniProtKB",
"id": "Q96P20",
"url": "https://www.uniprot.org/uniprot/Q96P20"
},
{
"database": "PubMed",
"id": "35559676",
"url": "https://glygen.org/publication/PubMed/35559676"
}
]
},
{
"start_pos": 802,
"end_pos": 802,
"sequence_org": "E",
"sequence_mut": "R",
"comment": "Abolished ability to activate the NLRP3 inflammasome.",
"evidence": [
{
"database": "UniProtKB",
"id": "Q96P20",
"url": "https://www.uniprot.org/uniprot/Q96P20"
},
{
"database": "PubMed",
"id": "31189953",
"url": "https://glygen.org/publication/PubMed/31189953"
}
]
},
{
"start_pos": 806,
"end_pos": 806,
"sequence_org": "S",
"sequence_mut": "A",
"comment": "Abolished phosphorylation by CSNK1A1; increased activation of the NLRP3 inflammasome.",
"evidence": [
{
"database": "UniProtKB",
"id": "Q96P20",
"url": "https://www.uniprot.org/uniprot/Q96P20"
},
{
"database": "PubMed",
"id": "34615873",
"url": "https://glygen.org/publication/PubMed/34615873"
}
]
},
{
"start_pos": 806,
"end_pos": 806,
"sequence_org": "S",
"sequence_mut": "D",
"comment": "Mimics phosphorylation state; decreased activation of the NLRP3 inflammasome.",
"evidence": [
{
"database": "UniProtKB",
"id": "Q96P20",
"url": "https://www.uniprot.org/uniprot/Q96P20"
},
{
"database": "PubMed",
"id": "34615873",
"url": "https://glygen.org/publication/PubMed/34615873"
}
]
},
{
"start_pos": 806,
"end_pos": 806,
"sequence_org": "S",
"sequence_mut": "E",
"comment": "Mimics phosphorylation state; decreased activation of the NLRP3 inflammasome.",
"evidence": [
{
"database": "UniProtKB",
"id": "Q96P20",
"url": "https://www.uniprot.org/uniprot/Q96P20"
},
{
"database": "PubMed",
"id": "34615873",
"url": "https://glygen.org/publication/PubMed/34615873"
}
]
},
{
"start_pos": 80,
"end_pos": 80,
"sequence_org": "R",
"sequence_mut": "E",
"comment": "Impaired ability to homooligomerize into ordered polymers. Decreased PYCARD/ASC filament nucleation.",
"evidence": [
{
"database": "UniProtKB",
"id": "Q96P20",
"url": "https://www.uniprot.org/uniprot/Q96P20"
},
{
"database": "PubMed",
"id": "35559676",
"url": "https://glygen.org/publication/PubMed/35559676"
}
]
},
{
"start_pos": 813,
"end_pos": 813,
"sequence_org": "F",
"sequence_mut": "E",
"comment": "Slightly decreased ability to activate the NLRP3 inflammasome; when associated with E-788.",
"evidence": [
{
"database": "UniProtKB",
"id": "Q96P20",
"url": "https://www.uniprot.org/uniprot/Q96P20"
},
{
"database": "PubMed",
"id": "36142182",
"url": "https://glygen.org/publication/PubMed/36142182"
}
]
},
{
"start_pos": 816,
"end_pos": 816,
"sequence_org": "R",
"sequence_mut": "D",
"comment": "Slightly decreased ability to activate the NLRP3 inflammasome; when associated with R-789.",
"evidence": [
{
"database": "UniProtKB",
"id": "Q96P20",
"url": "https://www.uniprot.org/uniprot/Q96P20"
},
{
"database": "PubMed",
"id": "36142182",
"url": "https://glygen.org/publication/PubMed/36142182"
}
]
},
{
"start_pos": 81,
"end_pos": 81,
"sequence_org": "R",
"sequence_mut": "E",
"comment": "Impaired ability to homooligomerize into ordered polymers. Decreased PYCARD/ASC filament nucleation.",
"evidence": [
{
"database": "UniProtKB",
"id": "Q96P20",
"url": "https://www.uniprot.org/uniprot/Q96P20"
},
{
"database": "PubMed",
"id": "35559676",
"url": "https://glygen.org/publication/PubMed/35559676"
}
]
},
{
"start_pos": 82,
"end_pos": 82,
"sequence_org": "D",
"sequence_mut": "R",
"comment": "Complete loss of PYCARD/ASC filament nucleation.",
"evidence": [
{
"database": "UniProtKB",
"id": "Q96P20",
"url": "https://www.uniprot.org/uniprot/Q96P20"
},
{
"database": "PubMed",
"id": "24630722",
"url": "https://glygen.org/publication/PubMed/24630722"
}
]
},
{
"start_pos": 831,
"end_pos": 831,
"sequence_org": "K",
"sequence_mut": "A",
"comment": "Slightly impaired autoinhibition of the protein; when associated with 788-A-R-789.",
"evidence": [
{
"database": "UniProtKB",
"id": "Q96P20",
"url": "https://www.uniprot.org/uniprot/Q96P20"
},
{
"database": "PubMed",
"id": "35114687",
"url": "https://glygen.org/publication/PubMed/35114687"
}
]
},
{
"start_pos": 833,
"end_pos": 833,
"sequence_org": "W",
"sequence_mut": "G",
"comment": "Does not affect ability to activate the NLRP3 inflammasome.",
"evidence": [
{
"database": "UniProtKB",
"id": "Q96P20",
"url": "https://www.uniprot.org/uniprot/Q96P20"
},
{
"database": "PubMed",
"id": "31189953",
"url": "https://glygen.org/publication/PubMed/31189953"
}
]
},
{
"start_pos": 844,
"end_pos": 844,
"sequence_org": "C",
"sequence_mut": "A",
"comment": "Abolished palmitoylation by ZDHHC12, preventing degradation by the chaperone-mediated autophagy pathway.",
"evidence": [
{
"database": "UniProtKB",
"id": "Q96P20",
"url": "https://www.uniprot.org/uniprot/Q96P20"
},
{
"database": "PubMed",
"id": "36586411",
"url": "https://glygen.org/publication/PubMed/36586411"
}
]
},
{
"start_pos": 861,
"end_pos": 861,
"sequence_org": "Y",
"sequence_mut": "F",
"comment": "Abolished phosphorylation.",
"evidence": [
{
"database": "UniProtKB",
"id": "Q96P20",
"url": "https://www.uniprot.org/uniprot/Q96P20"
},
{
"database": "PubMed",
"id": "27043286",
"url": "https://glygen.org/publication/PubMed/27043286"
}
]
},
{
"start_pos": 864,
"end_pos": 864,
"sequence_org": "E",
"sequence_mut": "R",
"comment": "Decreased ability to activate the NLRP3 inflammasome.",
"evidence": [
{
"database": "UniProtKB",
"id": "Q96P20",
"url": "https://www.uniprot.org/uniprot/Q96P20"
},
{
"database": "PubMed",
"id": "31189953",
"url": "https://glygen.org/publication/PubMed/31189953"
}
]
},
{
"start_pos": 918,
"end_pos": 918,
"sequence_org": "Y",
"sequence_mut": "G",
"comment": "Decreased ability to activate the NLRP3 inflammasome.",
"evidence": [
{
"database": "UniProtKB",
"id": "Q96P20",
"url": "https://www.uniprot.org/uniprot/Q96P20"
},
{
"database": "PubMed",
"id": "31189953",
"url": "https://glygen.org/publication/PubMed/31189953"
}
]
},
{
"start_pos": 995,
"end_pos": 995,
"sequence_org": "Q",
"sequence_mut": "A",
"comment": "Decreased interaction with HSPA8/HSC70 and NLRP3 degradation by the chaperone-mediated autophagy pathway.",
"evidence": [
{
"database": "UniProtKB",
"id": "Q96P20",
"url": "https://www.uniprot.org/uniprot/Q96P20"
},
{
"database": "PubMed",
"id": "36586411",
"url": "https://glygen.org/publication/PubMed/36586411"
}
]
}
],
"expression_tissue": [
{
"tissue": {
"name": "Adult mammalian kidney",
"namespace": "UBERON",
"id": "0000082",
"url": "http://purl.obolibrary.org/obo/UBERON_0000082"
},
"score": "53.59",
"present": "LOW",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000162711",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000162711"
}
]
},
{
"tissue": {
"name": "Oral cavity",
"namespace": "UBERON",
"id": "0000167",
"url": "http://purl.obolibrary.org/obo/UBERON_0000167"
},
"score": "41.27",
"present": "ABSENT",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000162711",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000162711"
}
]
},
{
"tissue": {
"name": "Stomach",
"namespace": "UBERON",
"id": "0000945",
"url": "http://purl.obolibrary.org/obo/UBERON_0000945"
},
"score": "67.12",
"present": "MEDIUM",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000162711",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000162711"
}
]
},
{
"tissue": {
"name": "Esophagus",
"namespace": "UBERON",
"id": "0001043",
"url": "http://purl.obolibrary.org/obo/UBERON_0001043"
},
"score": "76.83",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000162711",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000162711"
}
]
},
{
"tissue": {
"name": "Rectum",
"namespace": "UBERON",
"id": "0001052",
"url": "http://purl.obolibrary.org/obo/UBERON_0001052"
},
"score": "72.7",
"present": "MEDIUM",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000162711",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000162711"
}
]
},
{
"tissue": {
"name": "Urinary bladder",
"namespace": "UBERON",
"id": "0001255",
"url": "http://purl.obolibrary.org/obo/UBERON_0001255"
},
"score": "52.23",
"present": "LOW",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000162711",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000162711"
}
]
},
{
"tissue": {
"name": "Thyroid gland",
"namespace": "UBERON",
"id": "0002046",
"url": "http://purl.obolibrary.org/obo/UBERON_0002046"
},
"score": "56.79",
"present": "LOW",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000162711",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000162711"
}
]
},
{
"tissue": {
"name": "Liver",
"namespace": "UBERON",
"id": "0002107",
"url": "http://purl.obolibrary.org/obo/UBERON_0002107"
},
"score": "63.58",
"present": "MEDIUM",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000162711",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000162711"
}
]
},
{
"tissue": {
"name": "Prostate gland",
"namespace": "UBERON",
"id": "0002367",
"url": "http://purl.obolibrary.org/obo/UBERON_0002367"
},
"score": "60.34",
"present": "MEDIUM",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000162711",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000162711"
}
]
},
{
"tissue": {
"name": "Thoracic mammary gland",
"namespace": "UBERON",
"id": "0005200",
"url": "http://purl.obolibrary.org/obo/UBERON_0005200"
},
"score": "61.62",
"present": "MEDIUM",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000162711",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000162711"
}
]
}
],
"expression_disease": [
{
"significant": "Yes",
"trend": "down",
"name": "Prostate cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:10283",
"evidence": [
{
"database": "BioXpress",
"id": "Q96P20",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q96P20"
}
],
"disease": [
{
"disease_id": "DOID:10283",
"recommended_name": {
"id": "DOID:10283",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10283",
"name": "prostate cancer",
"description": "A male reproductive organ cancer that is located_in the prostate."
},
"synonyms": [
{
"id": "DOID:10283",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10283",
"name": "NGP - new growth of prostate",
"description": ""
},
{
"id": "DOID:10283",
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},
{
"id": "DOID:10283",
"resource": "Disease Ontology",
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"name": "malignant tumor of the prostate",
"description": ""
},
{
"id": "DOID:10283",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10283",
"name": "prostate cancer, familial",
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},
{
"id": "DOID:10283",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10283",
"name": "prostate neoplasm",
"description": ""
},
{
"id": "DOID:10283",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10283",
"name": "prostatic cancer",
"description": ""
},
{
"id": "DOID:10283",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10283",
"name": "prostatic neoplasm",
"description": ""
},
{
"id": "DOID:10283",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10283",
"name": "tumor of the prostate",
"description": ""
},
{
"id": "MONDO:0012597",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012597",
"name": "prostate cancer, hereditary, 9",
"description": ""
},
{
"id": "MONDO:0012597",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012597",
"name": "prostate cancer, hereditary, 9",
"description": ""
},
{
"id": "MONDO:0012597",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012597",
"name": "prostate cancer, hereditary, type 9",
"description": ""
},
{
"id": "MONDO:0012597",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012597",
"name": "HPC9",
"description": ""
},
{
"id": "MONDO:0012741",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012741",
"name": "prostate cancer, hereditary, 12",
"description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene."
},
{
"id": "MONDO:0012741",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012741",
"name": "EHBP1 familial prostate cancer",
"description": ""
},
{
"id": "MONDO:0012741",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012741",
"name": "familial prostate cancer caused by mutation in EHBP1",
"description": ""
},
{
"id": "MONDO:0012741",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012741",
"name": "prostate cancer, hereditary, 12",
"description": ""
},
{
"id": "MONDO:0012741",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012741",
"name": "prostate cancer, hereditary, type 12",
"description": ""
},
{
"id": "MONDO:0012741",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012741",
"name": "HPC12",
"description": ""
},
{
"id": "MONDO:0012244",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012244",
"name": "prostate cancer, hereditary, 5",
"description": ""
},
{
"id": "MONDO:0012244",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012244",
"name": "prostate cancer, hereditary, 5",
"description": ""
},
{
"id": "MONDO:0012244",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012244",
"name": "prostate cancer, hereditary, type 5",
"description": ""
},
{
"id": "MONDO:0012244",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012244",
"name": "HPC5",
"description": ""
},
{
"id": "MONDO:0012093",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012093",
"name": "prostate cancer, hereditary, 3",
"description": ""
},
{
"id": "MONDO:0012093",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012093",
"name": "prostate cancer, hereditary, 3",
"description": ""
},
{
"id": "MONDO:0012093",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012093",
"name": "prostate cancer, hereditary, type 3",
"description": ""
},
{
"id": "MONDO:0012093",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012093",
"name": "prostate cancer, susceptibility to, 3",
"description": ""
},
{
"id": "MONDO:0012093",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012093",
"name": "HPC3",
"description": ""
},
{
"id": "MONDO:0012094",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012094",
"name": "prostate cancer, hereditary, 4",
"description": ""
},
{
"id": "MONDO:0012094",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012094",
"name": "prostate cancer, hereditary, 4",
"description": ""
},
{
"id": "MONDO:0012094",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012094",
"name": "prostate cancer, hereditary, type 4",
"description": ""
},
{
"id": "MONDO:0012094",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012094",
"name": "prostate cancer, susceptibility to, 4",
"description": ""
},
{
"id": "MONDO:0012094",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012094",
"name": "HPC4",
"description": ""
},
{
"id": "MONDO:0012094",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012094",
"name": "prostate cancer, hereditary, on chromosome 7",
"description": ""
},
{
"id": "MONDO:0012758",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012758",
"name": "prostate cancer, hereditary, 13",
"description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene."
},
{
"id": "MONDO:0012758",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012758",
"name": "MSMB familial prostate cancer",
"description": ""
},
{
"id": "MONDO:0012758",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012758",
"name": "familial prostate cancer caused by mutation in MSMB",
"description": ""
},
{
"id": "MONDO:0012758",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012758",
"name": "prostate cancer, hereditary, 13",
"description": ""
},
{
"id": "MONDO:0012758",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012758",
"name": "prostate cancer, hereditary, type 13",
"description": ""
},
{
"id": "MONDO:0012758",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012758",
"name": "HPC13",
"description": ""
},
{
"id": "MONDO:0011270",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011270",
"name": "prostate cancer, hereditary, 8",
"description": ""
},
{
"id": "MONDO:0011270",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011270",
"name": "prostate cancer, hereditary, 8",
"description": ""
},
{
"id": "MONDO:0011270",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011270",
"name": "prostate cancer, hereditary, type 8",
"description": ""
},
{
"id": "MONDO:0011270",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011270",
"name": "HPC8",
"description": ""
},
{
"id": "MONDO:0011270",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011270",
"name": "predisposing for prostate cancer",
"description": ""
},
{
"id": "MONDO:0011270",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011270",
"name": "prostate cancer, susceptibility to",
"description": ""
},
{
"id": "MONDO:0012300",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012300",
"name": "prostate cancer, hereditary, 6",
"description": ""
},
{
"id": "MONDO:0012300",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012300",
"name": "prostate cancer, hereditary, 6",
"description": ""
},
{
"id": "MONDO:0012300",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012300",
"name": "prostate cancer, hereditary, type 6",
"description": ""
},
{
"id": "MONDO:0012300",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012300",
"name": "HPC6",
"description": ""
},
{
"id": "MONDO:0012300",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012300",
"name": "prostate cancer, susceptibility to",
"description": ""
},
{
"id": "MONDO:0012620",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012620",
"name": "prostate cancer, hereditary, 10",
"description": ""
},
{
"id": "MONDO:0012620",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012620",
"name": "HPC10",
"description": ""
},
{
"id": "MONDO:0012620",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012620",
"name": "prostate cancer, hereditary, 10",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "familial prostate carcinoma",
"description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma."
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "familial prostate cancer",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "hereditary prostate cancer",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "hereditary prostate carcinoma",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "prostate cancer, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "prostate cancer, somatic",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "prostate cancer, familial",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "prostate cancer, hereditary",
"description": ""
},
{
"id": "MONDO:0012470",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012470",
"name": "prostate cancer, hereditary, 7",
"description": ""
},
{
"id": "MONDO:0012470",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012470",
"name": "HPC7",
"description": ""
},
{
"id": "MONDO:0012470",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012470",
"name": "prostate cancer, hereditary, 7",
"description": ""
},
{
"id": "MONDO:0012470",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012470",
"name": "prostate cancer aggressiveness",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "prostate cancer, hereditary, 1",
"description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene."
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "RNASEL familial prostate cancer",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "familial 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",
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]
}
]
},
{
"significant": "No",
"trend": "up",
"name": "Stomach cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:10534",
"evidence": [
{
"database": "BioXpress",
"id": "Q96P20",
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{
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{
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"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "gastric cancer",
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},
{
"id": "MONDO:0001056",
"resource": "MONDO",
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"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "Ca lesser curvature - stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
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"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",
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"name": "malignant neoplasm of lesser curve of stomach",
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},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant neoplasm of stomach",
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},
{
"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",
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},
{
"id": "MONDO:0001056",
"resource": "MONDO",
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"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",
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},
{
"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",
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},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumor of the stomach",
"description": ""
},
{
"id": "MONDO:0001056",
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"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumour of body of stomach",
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},
{
"id": "MONDO:0001056",
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"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumour of greater curve of stomach",
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},
{
"id": "MONDO:0001056",
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"name": "malignant tumour of lesser curve of stomach",
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},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumour of stomach",
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},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumour of the stomach",
"description": ""
},
{
"id": "MONDO:0001056",
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},
{
"id": "MONDO:0001056",
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},
{
"id": "MONDO:0001056",
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},
{
"id": "MONDO:0001056",
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},
{
"id": "MONDO:0001056",
"resource": "MONDO",
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"name": "gastric cancer, intestinal",
"description": ""
},
{
"id": "MIM:613659",
"resource": "MIM",
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]
}
]
},
{
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{
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},
{
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"url": "https://monarchinitiative.org/disease/MONDO:0001187",
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{
"id": "MONDO:0001187",
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"name": "tumor of the bladder",
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},
{
"id": "MONDO:0001187",
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"url": "https://monarchinitiative.org/disease/MONDO:0001187",
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},
{
"id": "MONDO:0001187",
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"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "bladder cancer, somatic",
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},
{
"id": "MONDO:0001187",
"resource": "MONDO",
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},
{
"id": "MONDO:0001187",
"resource": "MONDO",
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},
{
"id": "MONDO:0001187",
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"name": "malignant bladder tumor",
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},
{
"id": "MONDO:0001187",
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"name": "malignant bladder tumour",
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},
{
"id": "MONDO:0001187",
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"name": "malignant neoplasm of bladder",
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},
{
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},
{
"id": "MONDO:0001187",
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},
{
"id": "MONDO:0001187",
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},
{
"id": "MONDO:0001187",
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},
{
"id": "MONDO:0001187",
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},
{
"id": "MONDO:0001187",
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},
{
"id": "MONDO:0001187",
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},
{
"id": "MONDO:0001187",
"resource": "MONDO",
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"name": "malignant tumor of the urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
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"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",
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"name": "malignant tumour of bladder",
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},
{
"id": "MONDO:0001187",
"resource": "MONDO",
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"name": "malignant tumour of the bladder",
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},
{
"id": "MONDO:0001187",
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"name": "malignant tumour of the urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
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},
{
"id": "MONDO:0001187",
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},
{
"id": "MONDO:0001187",
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"name": "malignant urinary bladder tumor",
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},
{
"id": "MONDO:0001187",
"resource": "MONDO",
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"name": "malignant urinary bladder tumour",
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},
{
"id": "MONDO:0001187",
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"name": "urinary bladder cancer",
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},
{
"id": "MONDO:0001187",
"resource": "MONDO",
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"name": "urinary bladder malignant neoplasm",
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},
{
"id": "MONDO:0001187",
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"name": "urinary bladder malignant tumor",
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},
{
"id": "MONDO:0001187",
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},
{
"id": "MIM:109800",
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]
}
]
},
{
"significant": "No",
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],
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"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11934",
"name": "head and neck neoplasm",
"description": ""
},
{
"id": "DOID:11934",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11934",
"name": "head and neck tumours",
"description": ""
},
{
"id": "DOID:11934",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11934",
"name": "head/neck neoplasm",
"description": ""
},
{
"id": "DOID:11934",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11934",
"name": "tumor of head and neck",
"description": ""
}
]
}
]
},
{
"significant": "Yes",
"trend": "down",
"name": "Lung cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:1324",
"evidence": [
{
"database": "BioXpress",
"id": "Q96P20",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q96P20"
}
],
"disease": [
{
"disease_id": "DOID:1324",
"recommended_name": {
"id": "DOID:1324",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1324",
"name": "lung cancer",
"description": "A respiratory system cancer that is located_in the lung."
},
"synonyms": [
{
"id": "MONDO:0012159",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012159",
"name": "lung cancer susceptibility 1",
"description": ""
},
{
"id": "MONDO:0012159",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012159",
"name": "LNCR1",
"description": ""
},
{
"id": "MONDO:0012159",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012159",
"name": "lung cancer susceptibility",
"description": ""
},
{
"id": "MONDO:0012159",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012159",
"name": "lung cancer susceptibility 1",
"description": ""
},
{
"id": "MONDO:0012942",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012942",
"name": "lung cancer susceptibility 3",
"description": ""
},
{
"id": "MONDO:0012942",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012942",
"name": "LNCR3",
"description": ""
},
{
"id": "MONDO:0012942",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012942",
"name": "lung cancer susceptibility 3",
"description": ""
},
{
"id": "MONDO:0012942",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012942",
"name": "adenocarcinoma of lung, susceptibility to",
"description": ""
},
{
"id": "MONDO:0012955",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012955",
"name": "lung cancer susceptibility 4",
"description": ""
},
{
"id": "MONDO:0012955",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012955",
"name": "LNCR4",
"description": ""
},
{
"id": "MONDO:0012955",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012955",
"name": "lung cancer susceptibility 4",
"description": ""
},
{
"id": "MONDO:0013631",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0013631",
"name": "lung cancer susceptibility 5",
"description": ""
},
{
"id": "MONDO:0013631",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0013631",
"name": "LNCR5",
"description": ""
},
{
"id": "MONDO:0013631",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0013631",
"name": "lung cancer susceptibility 5",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer",
"description": "A malignant neoplasm involving the lung."
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "adenocarcinoma of lung, somatic",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "cancer of lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer, protection against, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer, resistance to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer, somatic",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant lung neoplasm",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant lung tumor",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant lung tumour",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant neoplasm of lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant neoplasm of the lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant tumor of lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant tumor of the lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant tumour of lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant tumour of the lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "nonsmall cell lung cancer, somatic",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "Nonsmall cell lung cancer",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "alveolar cell carcinoma",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer, protection against",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung neoplasm",
"description": ""
},
{
"id": "MIM:211980",
"resource": "MIM",
"url": "https://www.omim.org/entry/211980",
"name": "Lung cancer",
"description": "Lung cancer"
}
]
}
]
},
{
"significant": "Yes",
"trend": "down",
"name": "Breast cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:1612",
"evidence": [
{
"database": "BioXpress",
"id": "Q96P20",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q96P20"
}
],
"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": "No",
"trend": "up",
"name": "Thyroid cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:1781",
"evidence": [
{
"database": "BioXpress",
"id": "Q96P20",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q96P20"
}
],
"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": "Q96P20",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q96P20"
}
],
"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": "Q96P20",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q96P20"
}
],
"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": "down",
"name": "Uterine cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:363",
"evidence": [
{
"database": "BioXpress",
"id": "Q96P20",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q96P20"
}
],
"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",
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{
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{
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{
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"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant tumour of the large intestine",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
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"name": "CRC",
"description": ""
},
{
"id": "MONDO:0005575",
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"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colon cancer",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
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"description": ""
},
{
"id": "MIM:114500",
"resource": "MIM",
"url": "https://www.omim.org/entry/114500",
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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": "cd08320",
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{
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{
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},
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},
{
"id": "IPR004020",
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{
"id": "IPR029495",
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"id": "IPR041075",
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]
},
{
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},
{
"id": "hsa:114548",
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"id": "120100",
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"id": "NX_Q96P20",
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},
{
"id": "NEMYFNY",
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"categories": [
"Protein Classification"
]
},
{
"id": "55870at2759",
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]
},
{
"id": "PTHR45690",
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"database": "PANTHER",
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]
},
{
"id": "PTHR45690:SF19",
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]
},
{
"id": "2NAQ",
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},
{
"id": "3QF2",
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{
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]
},
{
"id": "7ALV",
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]
},
{
"id": "7PZC",
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"categories": [
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{
"id": "7PZD",
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{
"id": "7VTP",
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]
},
{
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]
},
{
"id": "8EJ4",
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{
"id": "8ERT",
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{
"id": "8ETR",
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{
"id": "PF02758",
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]
},
{
"id": "PF05729",
"url": "http://pfam.xfam.org/family/PF05729",
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]
},
{
"id": "PF13516",
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},
{
"id": "PF14484",
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]
},
{
"id": "PF17776",
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]
},
{
"id": "PF17779",
"url": "http://pfam.xfam.org/family/PF17779",
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]
},
{
"id": "Q96P20",
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},
{
"id": "PR_Q96P20",
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]
},
{
"id": "R-HSA-5689901",
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]
},
{
"id": "R-HSA-844456",
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"database": "Reactome",
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},
{
"id": "R-HSA-9660826",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9660826",
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]
},
{
"id": "R-HSA-9692916",
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]
},
{
"id": "R-HSA-9705671",
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"database": "Reactome",
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"Protein Classification"
]
},
{
"id": "R-HSA-9707564",
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]
},
{
"id": "NP_001073289",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073289",
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]
},
{
"id": "13065",
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]
},
{
"id": "A0A2R8YEG7",
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]
},
{
"id": "A0A2R8YEG7-1",
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]
},
{
"id": "A0A7I2PJH0",
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]
},
{
"id": "A0A7I2PJH0-1",
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]
},
{
"id": "A0A7I2PMC6",
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]
},
{
"id": "A0A7I2PMC6-1",
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{
"id": "A0A7I2PRX0",
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]
},
{
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]
},
{
"id": "A0A7I2R3P8",
"url": "https://www.uniprot.org/uniprot/A0A7I2R3P8",
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]
},
{
"id": "A0A7I2R3P8-1",
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"categories": [
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]
},
{
"id": "A0A7I2UNQ2",
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"database": "UniProtKB",
"categories": [
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]
},
{
"id": "A0A7I2UNQ2-1",
"url": "https://www.uniprot.org/uniprot/A0A7I2UNQ2-1",
"database": "UniProtKB",
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]
},
{
"id": "A0A7I2YME5",
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"categories": [
"Protein"
]
},
{
"id": "A0A7I2YME5-1",
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},
{
"id": "Q96P20",
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]
},
{
"id": "Q96P20-1",
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]
},
{
"id": "Q96P20-2",
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]
},
{
"id": "Q96P20-3",
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"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "Q96P20-4",
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"database": "UniProtKB",
"categories": [
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]
},
{
"id": "Q96P20-5",
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"database": "UniProtKB",
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]
},
{
"id": "Q96P20-6",
"url": "https://www.uniprot.org/uniprot/Q96P20-6",
"database": "UniProtKB",
"categories": [
"Protein"
]
}
],
"sequence": {
"sequence": "MKMASTRCKLARYLEDLEDVDLKKFKMHLEDYPPQKGCIPLPRGQTEKADHVDLATLMIDFNGEEKAWAMAVWIFAAINRRDLYEKAKRDEPKWGSDNARVSNPTVICQEDSIEEEWMGLLEYLSRISICKMKKDYRKKYRKYVRSRFQCIEDRNARLGESVSLNKRYTRLRLIKEHRSQQEREQELLAIGKTKTCESPVSPIKMELLFDPDDEHSEPVHTVVFQGAAGIGKTILARKMMLDWASGTLYQDRFDYLFYIHCREVSLVTQRSLGDLIMSCCPDPNPPIHKIVRKPSRILFLMDGFDELQGAFDEHIGPLCTDWQKAERGDILLSSLIRKKLLPEASLLITTRPVALEKLQHLLDHPRHVEILGFSEAKRKEYFFKYFSDEAQARAAFSLIQENEVLFTMCFIPLVCWIVCTGLKQQMESGKSLAQTSKTTTAVYVFFLSSLLQPRGGSQEHGLCAHLWGLCSLAADGIWNQKILFEESDLRNHGLQKADVSAFLRMNLFQKEVDCEKFYSFIHMTFQEFFAAMYYLLEEEKEGRTNVPGSRLKLPSRDVTVLLENYGKFEKGYLIFVVRFLFGLVNQERTSYLEKKLSCKISQQIRLELLKWIEVKAKAKKLQIQPSQLELFYCLYEMQEEDFVQRAMDYFPKIEINLSTRMDHMVSSFCIENCHRVESLSLGFLHNMPKEEEEEEKEGRHLDMVQCVLPSSSHAACSHGLVNSHLTSSFCRGLFSVLSTSQSLTELDLSDNSLGDPGMRVLCETLQHPGCNIRRLWLGRCGLSHECCFDISLVLSSNQKLVELDLSDNALGDFGIRLLCVGLKHLLCNLKKLWLVSCCLTSACCQDLASVLSTSHSLTRLYVGENALGDSGVAILCEKAKNPQCNLQKLGLVNSGLTSVCCSALSSVLSTNQNLTHLYLRGNTLGDKGIKLLCEGLLHPDCKLQVLELDNCNLTSHCCWDLSTLLTSSQSLRKLSLGNNDLGDLGVMMFCEVLKQQSCLLQNLGLSEMYFNYETKSALETLQEEKPELTVVFEPSW",
"length": 1036,
"header": "sp|Q96P20-1|NLRP3_HUMAN Isoform 1 of NACHT, LRR and PYD domains-containing protein 3 OS=Homo sapiens OX=9606 GN=NLRP3 PE=1 SV=3 CANONICAL=Q96P20-1"
},
"isoforms": [
{
"isoform_ac": "A0A2R8YEG7-1",
"url": "",
"sequence": {
"sequence": "KADHVDLATLMIDFNGEEKAWAMAVWIFAAINRRDLYEKAKRDEPKWGSDNARVSNPTVICQEDSIEEEWMGLLEYLSRISICKMKKDYRKKYRKYVRSRFQCIEDRNARLGESVSLNKRYTRLRLIKEHRSQQEREQELLAIGKTKTCESPVSPIKMELLFDPDDEHSEPVHTVVFQGAAGIGKTILARKMMLDWASGTLYQDRFDYLFYIHCREVSLVTQRSLGDLIMSCCPDPNPPIHKIVRKPSRILFLMDGFDELQGAFDEHIGPLCTDWQKAERGDILLSSLIRKKLLPEASLLITTRPVALEKLQHLLDHPRHVEILGFSEAKRKEYFFKYFSDEAQARAAFSLIQENEVLFTMCFIPLVCWIVCTGLKQQMESGKSLAQTSKTTTAVYVFFLSSLLQPRGGSQEHGLCAHLWGLCSLAADGIWNQKILFEESDLRNHGLQKADVSAFLRMNLFQKEVDCEKFYSFIHMTFQEFFAAMYYLLEEEKEGRTNVPGSRLKLPSRDVTVLLENYGKFEKGYLIFVVRFLFGLVNQERTSYLEKKLSCKISQQIRLELLKWIEVKAKAKKLQIQPSQLELFYCLYEMQEEDFVQRAMDYFPKIEINLSTRMDHMVSSFCIENCHRVESLSLGFLHNMPKEEEEEEKEGRHLDMVQCVLPSSSHAACSHG",
"length": 672,
"header": "tr|A0A2R8YEG7-1|NLRP3_HUMAN Computationally mapped isoform of NACHT, LRR and PYD domains-containing protein 3 OS=Homo sapiens OX=9606 GN=NLRP3 PE=1 SV=1 CANONICAL=Q96P20-1"
},
"locus": {
"chromosome": "1",
"start_pos": 247425600,
"end_pos": 247418936,
"strand": "-",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000642259.1",
"url": "https://www.ensembl.org/id/ENST00000642259.1"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000494332.1",
"url": "https://www.ensembl.org/id/ENSP00000494332.1"
}
]
}
},
{
"isoform_ac": "A0A7I2PJH0-1",
"url": "",
"sequence": {
"sequence": "MASTRCKLARYLEDLEDVDLKKFKMHLEDYPPQKGCIPLPRGQTEKADHVDLATLMIDFNGEEKAWAMAVWIFAAINRRDLYEKAKRDEPKWGSDNARVSNPTVICQEDSIEEEWMGLLEYLSRISICKMKKDYRKKYRKYVRSRFQCIEDRNARLGESVSLNKRYTRLRLIKEHRSQQEREQELLAIGKTKTCESPVSPIKMELLFDPDDEHSEPVHTVVFQGAAGIGKTILARKMMLDWASGTLYQDRFDYLFYIHCREVSLVTQRSLGDLIMSCCPDPNPPIHKIVRKPSRILFLMDGFDELQGAFDEHIGPLCTDWQKAERGDILLSSLIRKKLLPEASLLITTRPVALEKLQHLLDHPRHVEILGFSEAKRKEYFFKYFSDEAQARAAFSLIQENEVLFTMCFIPLVCWIVCTGLKQQMESGKSLAQTSKTTTAVYVFFLSSLLQPRGGSQEHGLCAHLWGLCSLAADGIWNQKILFEESDLRNHGLQKADVSAFLRMNLFQKEVDCEKFYSFIHMTFQEFFAAMYYLLEEEKEGRTNVPGSRLKLPSRDVTVLLENYGKFEKGYLIFVVRFLFGLVNQERTSYLEKKLSCKISQQIRLELLKWIEVKAKAKKLQIQPSQLELFYCLYEMQEEDFVQRAMDYFPKIEINLSTRMDHMVSSFCIENCHRVESLSLGFLHNMPKEEEEEEKEGRHLDMVQCVLPSSSHAACSHGLGRCGLSHECCFDISLVLSSNQKLVELDLSDNALGDFGIRLLCVGLKHLLCNLKKLWLVNSGLTSVCCSALSSVLSTNQNLTHLYLRGNTLGDKGIKLLCEGLLHPDCKLQVLELDNCNLTSHCCWDLSTLLTSSQSLRKLSLGNNDLGDLGVMMFCEVLKQQSCLLQNLGLSEMYFNYETKSALETLQEEKPELTVVFEPSW",
"length": 920,
"header": "tr|A0A7I2PJH0-1|A0A7I2PJH0_HUMAN Computationally mapped isoform of NLR family pyrin domain containing 3 OS=Homo sapiens OX=9606 GN=NLRP3 PE=1 SV=1 CANONICAL=Q96P20-1"
},
"locus": {
"chromosome": "1",
"start_pos": 247448501,
"end_pos": 247418801,
"strand": "-",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000348069.7",
"url": "https://www.ensembl.org/id/ENST00000348069.7"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000294752.4",
"url": "https://www.ensembl.org/id/ENSP00000294752.4"
}
]
}
},
{
"isoform_ac": "A0A7I2PMC6-1",
"url": "",
"sequence": {
"sequence": "MASTRCKLARYLEDLEDVDLKKFKMHLEDYPPQKGCIPLPRGQTEKADHVDLATLMIDFNGEEKAWAMAVWIFAAINRRDLYEKAKRDEPKWGSDNARVSNPTVICQEDSIEEEWMGLLEYLSRISICKMKKDYRKKYRKYVRSRFQCIEDRNARLGESVSLNKRYTRLRLIKEHRSQQEREQELLAIGKTKTCESPVSPIKMELLFDPDDEHSEPVHTVVFQGAAGIGKTILARKMMLDWASGTLYQDRFDYLFYIHCREVSLVTQRSLGDLIMSCCPDPNPPIHKIVRKPSRILFLMDGFDELQGAFDEHIGPLCTDWQKAERGDILLSSLIRKKLLPEASLLITTRPVALEKLQHLLDHPRHVEILGFSEAKRKEYFFKYFSDEAQARAAFSLIQENEVLFTMCFIPLVCWIVCTGLKQQMESGKSLAQTSKTTTAVYVFFLSSLLQPRGGSQEHGLCAHLWGLCSLAADGIWNQKILFEESDLRNHGLQKADVSAFLRMNLFQKEVDCEKFYSFIHMTFQEFFAAMYYLLEEEKEGRTNVPGSRLKLPSRDVTVLLENYGKFEKGYLIFVVRFLFGLVNQERTSYLEKKLSCKISQQIRLELLKWIEVKAKAKKLQIQPSQLELFYCLYEMQEEDFVQRAMDYFPKIEINLSTRMDHMVSSFCIENCHRVESLSLGFLHNMPKEEEEEEKEGRHLDMVQCVLPSSSHAACSHGLVNSHLTSSFCRGLFSVLSTSQSLTELDLSDNSLGDPGMRVLCETLQHPGCNIRRLWLGRCGLSHECCFDISLVLSSNQKLVELDLSDNALGDFGIRLLCVGLKHLLCNLKKLWLVNSGLTSVCCSALSSVLSTNQNLTHLYLRGNTLGDKGIKLLCEGLLHPDCKLQVLELDNCNLTSHCCWDLSTLLTSSQSLRKLSLGNNDLGDLGVMMFCEVLKQQSCLLQNLGLSEMYFNYETKSALETLQEEKPELTVVFEPSW",
"length": 977,
"header": "tr|A0A7I2PMC6-1|A0A7I2PMC6_HUMAN Computationally mapped isoform of NLR family pyrin domain containing 3 OS=Homo sapiens OX=9606 GN=NLRP3 PE=1 SV=1 CANONICAL=Q96P20-1"
},
"locus": {
"chromosome": "1",
"start_pos": 247448501,
"end_pos": 247418801,
"strand": "-",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000366496.7",
"url": "https://www.ensembl.org/id/ENST00000366496.7"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000355452.3",
"url": "https://www.ensembl.org/id/ENSP00000355452.3"
}
]
}
},
{
"isoform_ac": "A0A7I2PRX0-1",
"url": "",
"sequence": {
"sequence": "MASTRCKLARYLEDLEDVDLKKFKMHLEDYPPQKGCIPLPRGQTEKADHVDLATLMIDFNGEEKAWAMAVWIFAAINRRDLYEKAKRDEPKWGSDNARVSNPTVICQEDSIEEEWMGLLEYLSRISICKMKKDYRKKYRKYVRSRFQCIEDRNARLGESVSLNKRYTRLRLIKEHRSQQEREQELLAIGKTKTCESPVSPIKMELLFDPDDEHSEPVHTVVFQGAAGIGKTILARKMMLDWASGTLYQDRFDYLFYIHCREVSLVTQRSLGDLIMSCCPDPNPPIHKIVRKPSRILFLMDGFDELQGAFDEHIGPLCTDWQKAERGDILLSSLIRKKLLPEASLLITTRPVALEKLQHLLDHPRHVEILGFSEAKRKEYFFKYFSDEAQARAAFSLIQENEVLFTMCFIPLVCWIVCTGLKQQMESGKSLAQTSKTTTAVYVFFLSSLLQPRGGSQEHGLCAHLWGLCSLAADGIWNQKILFEESDLRNHGLQKADVSAFLRMNLFQKEVDCEKFYSFIHMTFQEFFAAMYYLLEEEKEGRTNVPGSRLKLPSRDVTVLLENYGKFEKGYLIFVVRFLFGLVNQERTSYLEKKLSCKISQQIRLELLKWIEVKAKAKKLQIQPSQLELFYCLYEMQEEDFVQRAMDYFPKIEINLSTRMDHMVSSFCIENCHRVESLSLGFLHNMPKEEEEEEKEGRHLDMVQCVLPSSSHAACSHGLGRCGLSHECCFDISLVLSSNQKLVELDLSDNALGDFGIRLLCVGLKHLLCNLKKLWLVSCCLTSACCQDLASVLSTSHSLTRLYVGENALGDSGVAILCEKAKNPQCNLQKLGLVNSGLTSVCCSALSSVLSTNQNLTHLYLRGNTLGDKGIKLLCEGLLHPDCKLQVLELDNCNLTSHCCWDLSTLLTSSQSLRKLSLGNNDLGDLGVMMFCEVLKQQSCLLQNLGLSEMYFNYETKSALETLQEEKPELTVVFEPSW",
"length": 977,
"header": "tr|A0A7I2PRX0-1|NLRP3_HUMAN Computationally mapped isoform of NACHT, LRR and PYD domains-containing protein 3 OS=Homo sapiens OX=9606 GN=NLRP3 PE=1 SV=1 CANONICAL=Q96P20-1"
},
"locus": {
"chromosome": "1",
"start_pos": 247448501,
"end_pos": 247418801,
"strand": "-",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000391827.3",
"url": "https://www.ensembl.org/id/ENST00000391827.3"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000375703.3",
"url": "https://www.ensembl.org/id/ENSP00000375703.3"
}
]
}
},
{
"isoform_ac": "A0A7I2R3P8-1",
"url": "",
"sequence": {
"sequence": "MASTRCKLARYLEDLEDVDLKKFKMHLEDYPPQKGCIPLPRGQTEKADHVDLATLMIDFNGEEKAWAMAVWIFAAINRRDLYEKAKRDEPKWGSDNARVSNPTVICQEDSIEEEWMGLLEYLSRISICKMKKDYRKKYRKYVRSRFQCIEDRNARLGESVSLNKRYTRLRLIKEHRSQQEREQELLAIGKTKTCESPVSPIKMELLFDPDDEHSEPVHTVVFQGAAGIGKTILARKMMLDWASGTLYQDRFDYLFYIHCREVSLVTQRSLGDLIMSCCPDPNPPIHKIVRKPSRILFLMDGFDELQGAFDEHIGPLCTDWQKAERGDILLSSLIRKKLLPEASLLITTRPVALEKLQHLLDHPRHVEILGFSEAKRKEYFFKYFSDEAQARAAFSLIQENEVLFTMCFIPLVCWIVCTGLKQQMESGKSLAQTSKTTTAVYVFFLSSLLQPRGGSQEHGLCAHLWGLCSLAADGIWNQKILFEESDLRNHGLQKADVSAFLRMNLFQKEVDCEKFYSFIHMTFQEFFAAMYYLLEEEKEGRTNVPGSRLKLPSRDVTVLLENYGKFEKGYLIFVVRFLFGLVNQERTSYLEKKLSCKISQQIRLELLKWIEVKAKAKKLQIQPSQLELFYCLYEMQEEDFVQRAMDYFPKIEINLSTRMDHMVSSFCIENCHRVESLSLGFLHNMPKEEEEEEKEGRHLDMVQCVLPSSSHAACSHGLVNSHLTSSFCRGLFSVLSTSQSLTELDLSDNSLGDPGMRVLCETLQHPGCNIRRLWLGRCGLSHECCFDISLVLSSNQKLVELDLSDNALGDFGIRLLCVGLKHLLCNLKKLWLVSCCLTSACCQDLASVLSTSHSLTRLYVGENALGDSGVAILCEKAKNPQCNLQKLGLVNSGLTSVCCSALSSVLSTNQNLTHLYLRGNTLGDKGIKLLCEGLLHPDCKLQVLELDNCNLTSHCCWDLSTLLTSSQSLRKLSLGNNDLGDLGVMMFCEVLKQQSCLLQNLGLSEMYFNYETKSALETLQEEKPELTVVFEPSW",
"length": 1034,
"header": "tr|A0A7I2R3P8-1|NLRP3_HUMAN Computationally mapped isoform of NACHT, LRR and PYD domains-containing protein 3 OS=Homo sapiens OX=9606 GN=NLRP3 PE=1 SV=1 CANONICAL=Q96P20-1"
},
"locus": {
"chromosome": "1",
"start_pos": 247448501,
"end_pos": 247418801,
"strand": "-",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000697350.1",
"url": "https://www.ensembl.org/id/ENST00000697350.1"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000513275.1",
"url": "https://www.ensembl.org/id/ENSP00000513275.1"
}
]
}
},
{
"isoform_ac": "A0A7I2UNQ2-1",
"url": "",
"sequence": {
"sequence": "MASTRCKLARYLEDLEDVDLKKFKMHLEDYPPQKGCIPLPRGQTEKADHVDLATLMIDFNGEEKAWAMAVWIFAAINRRDLYEKAKRDEPKWGSDNARVSNPTVICQEDSIEEEWMGLLEYLSRISICKMKKDYRKKYRKYVRSRFQCIEDRNARLGESVSLNKRYTRLRLIKEHRSQQEREQELLAIGKTKTCESPVSPIKMELLFDPDDEHSEPVHTVVFQGAAGIGKTILARKMMLDWASGTLYQDRFDYLFYIHCREVSLVTQRSLGDLIMSCCPDPNPPIHKIVRKPSRILFLMDGFDELQGAFDEHIGPLCTDWQKAERGDILLSSLIRKKLLPEASLLITTRPVALEKLQHLLDHPRHVEILGFSEAKRKEYFFKYFSDEAQARAAFSLIQENEVLFTMCFIPLVCWIVCTGLKQQMESGKSLAQTSKTTTAVYVFFLSSLLQPRGGSQEHGLCAHLWGLCSLAADGIWNQKILFEESDLRNHGLQKADVSAFLRMNLFQKEVDCEKFYSFIHMTFQEFFAAMYYLLEEEKEGRTNVPGSRLKLPSRDVTVLLENYGKFEKGYLIFVVRFLFGLVNQERTSYLEKKLSCKISQQIRLELLKWIEVKAKAKKLQIQPSQLELFYCLYEMQEEDFVQRAMDYFPKIEINLSTRMDHMVSSFCIENCHRVESLSLGFLHNMPKEEEEEEKEGRHLDMVQCVLPSSSHAACSHG",
"length": 717,
"header": "tr|A0A7I2UNQ2-1|A0A7I2UNQ2_HUMAN Computationally mapped isoform of NLR family pyrin domain containing 3 OS=Homo sapiens OX=9606 GN=NLRP3 PE=1 SV=1 CANONICAL=Q96P20-1"
},
"locus": {
"chromosome": "1",
"start_pos": 247425600,
"end_pos": 247418801,
"strand": "-",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000474792.2",
"url": "https://www.ensembl.org/id/ENST00000474792.2"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000493937.2",
"url": "https://www.ensembl.org/id/ENSP00000493937.2"
}
]
}
},
{
"isoform_ac": "A0A7I2YME5-1",
"url": "",
"sequence": {
"sequence": "MASTRCKLARYLEDLEDVDLKKFKMHLEDYPPQKGCIPLPRGQTEKADHVDLATLMIDFNGEEKAWAMAVWIFAAINRRDLYEKAKRDEPKWGSDNARVSNPTVICQEDSIEEEWMGLLEYLSRISICKMKKDYRKKYRKYVRSRFQCIEDRNARLGESVSLNKRYTRLRLIKEHRSQQEREQELLAIGKTKTCESPVSPIKMELLFDPDDEHSEPVHTVVFQGAAGIGKTILARKMMLDWASGTLYQDRFDYLFYIHCREVSLVTQRSLGDLIMSCCPDPNPPIHKIVRKPSRILFLMDGFDELQGAFDEHIGPLCTDWQKAERGDILLSSLIRKKLLPEASLLITTRPVALEKLQHLLDHPRHVEILGFSEAKRKEYFFKYFSDEAQARAAFSLIQENEVLFTMCFIPLVCWIVCTGLKQQMESGKSLAQTSKTTTAVYVFFLSSLLQPRGGSQEHGLCAHLWGLCSLAADGIWNQKILFEESDLRNHGLQKADVSAFLRMNLFQKEVDCEKFYSFIHMTFQEFFAAMYYLLEEEKEGRTNVPGSRLKLPSRDVTVLLENYGKFEKGYLIFVVRFLFGLVNQERTSYLEKKLSCKISQQIRLELLKWIEVKAKAKKLQIQPSQLELFYCLYEMQEEDFVQRAMDYFPKIEINLSTRMDHMVSSFCIENCHRVESLSLGFLHNMPKEEEEEEKEGRHLDMVQCVLPSSSHAACSHGLVNSHLTSSFCRGLFSVLSTSQSLTELDLSDNSLGDPGMRVLCETLQHPGCNIRRLCNQKLVELDLSDNALGDFGIRLLCVGLKHLLCNLKKLWLVSCCLTSACCQDLASVLSTSHSLTRLYVGENALGDSGVAILCEKAKNPQCNLQKLGLVNSGLTSVCCSALSSVLSTNQNLTHLYLRGNTLGDKGIKLLCEGLLHPDCKLQVLELDNCNLTSHCCWDLSTLLTSSQSLRKLSLGNNDLGDLGVMMFCEVLKQQSCLLQNLGLSEMYFNYETKSALETLQEEKPELTVVFEPSW",
"length": 1014,
"header": "tr|A0A7I2YME5-1|NLRP3_HUMAN Computationally mapped isoform of NACHT, LRR and PYD domains-containing protein 3 OS=Homo sapiens OX=9606 GN=NLRP3 PE=1 SV=1 CANONICAL=Q96P20-1"
},
"locus": {
"chromosome": "1",
"start_pos": 247448501,
"end_pos": 247418801,
"strand": "-",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000643234.2",
"url": "https://www.ensembl.org/id/ENST00000643234.2"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000493674.2",
"url": "https://www.ensembl.org/id/ENSP00000493674.2"
}
]
}
},
{
"isoform_ac": "Q96P20-1",
"url": "",
"sequence": {
"sequence": "MKMASTRCKLARYLEDLEDVDLKKFKMHLEDYPPQKGCIPLPRGQTEKADHVDLATLMIDFNGEEKAWAMAVWIFAAINRRDLYEKAKRDEPKWGSDNARVSNPTVICQEDSIEEEWMGLLEYLSRISICKMKKDYRKKYRKYVRSRFQCIEDRNARLGESVSLNKRYTRLRLIKEHRSQQEREQELLAIGKTKTCESPVSPIKMELLFDPDDEHSEPVHTVVFQGAAGIGKTILARKMMLDWASGTLYQDRFDYLFYIHCREVSLVTQRSLGDLIMSCCPDPNPPIHKIVRKPSRILFLMDGFDELQGAFDEHIGPLCTDWQKAERGDILLSSLIRKKLLPEASLLITTRPVALEKLQHLLDHPRHVEILGFSEAKRKEYFFKYFSDEAQARAAFSLIQENEVLFTMCFIPLVCWIVCTGLKQQMESGKSLAQTSKTTTAVYVFFLSSLLQPRGGSQEHGLCAHLWGLCSLAADGIWNQKILFEESDLRNHGLQKADVSAFLRMNLFQKEVDCEKFYSFIHMTFQEFFAAMYYLLEEEKEGRTNVPGSRLKLPSRDVTVLLENYGKFEKGYLIFVVRFLFGLVNQERTSYLEKKLSCKISQQIRLELLKWIEVKAKAKKLQIQPSQLELFYCLYEMQEEDFVQRAMDYFPKIEINLSTRMDHMVSSFCIENCHRVESLSLGFLHNMPKEEEEEEKEGRHLDMVQCVLPSSSHAACSHGLVNSHLTSSFCRGLFSVLSTSQSLTELDLSDNSLGDPGMRVLCETLQHPGCNIRRLWLGRCGLSHECCFDISLVLSSNQKLVELDLSDNALGDFGIRLLCVGLKHLLCNLKKLWLVSCCLTSACCQDLASVLSTSHSLTRLYVGENALGDSGVAILCEKAKNPQCNLQKLGLVNSGLTSVCCSALSSVLSTNQNLTHLYLRGNTLGDKGIKLLCEGLLHPDCKLQVLELDNCNLTSHCCWDLSTLLTSSQSLRKLSLGNNDLGDLGVMMFCEVLKQQSCLLQNLGLSEMYFNYETKSALETLQEEKPELTVVFEPSW",
"length": 1036,
"header": "sp|Q96P20-1|NLRP3_HUMAN Isoform 1 of NACHT, LRR and PYD domains-containing protein 3 OS=Homo sapiens OX=9606 GN=NLRP3 PE=1 SV=3 CANONICAL=Q96P20-1"
},
"locus": {}
},
{
"isoform_ac": "Q96P20-2",
"url": "",
"sequence": {
"sequence": "MKMASTRCKLARYLEDLEDVDLKKFKMHLEDYPPQKGCIPLPRGQTEKADHVDLATLMIDFNGEEKAWAMAVWIFAAINRRDLYEKAKRDEPKWGSDNARVSNPTVICQEDSIEEEWMGLLEYLSRISICKMKKDYRKKYRKYVRSRFQCIEDRNARLGESVSLNKRYTRLRLIKEHRSQQEREQELLAIGKTKTCESPVSPIKMELLFDPDDEHSEPVHTVVFQGAAGIGKTILARKMMLDWASGTLYQDRFDYLFYIHCREVSLVTQRSLGDLIMSCCPDPNPPIHKIVRKPSRILFLMDGFDELQGAFDEHIGPLCTDWQKAERGDILLSSLIRKKLLPEASLLITTRPVALEKLQHLLDHPRHVEILGFSEAKRKEYFFKYFSDEAQARAAFSLIQENEVLFTMCFIPLVCWIVCTGLKQQMESGKSLAQTSKTTTAVYVFFLSSLLQPRGGSQEHGLCAHLWGLCSLAADGIWNQKILFEESDLRNHGLQKADVSAFLRMNLFQKEVDCEKFYSFIHMTFQEFFAAMYYLLEEEKEGRTNVPGSRLKLPSRDVTVLLENYGKFEKGYLIFVVRFLFGLVNQERTSYLEKKLSCKISQQIRLELLKWIEVKAKAKKLQIQPSQLELFYCLYEMQEEDFVQRAMDYFPKIEINLSTRMDHMVSSFCIENCHRVESLSLGFLHNMPKEEEEEEKEGRHLDMVQCVLPSSSHAACSHGLGRCGLSHECCFDISLVLSSNQKLVELDLSDNALGDFGIRLLCVGLKHLLCNLKKLWLVNSGLTSVCCSALSSVLSTNQNLTHLYLRGNTLGDKGIKLLCEGLLHPDCKLQVLELDNCNLTSHCCWDLSTLLTSSQSLRKLSLGNNDLGDLGVMMFCEVLKQQSCLLQNLGLSEMYFNYETKSALETLQEEKPELTVVFEPSW",
"length": 922,
"header": "sp|Q96P20-2|NLRP3_HUMAN Isoform 2 of NACHT, LRR and PYD domains-containing protein 3 OS=Homo sapiens OX=9606 GN=NLRP3 PE=1 SV=3 CANONICAL=Q96P20-1"
},
"locus": {}
},
{
"isoform_ac": "Q96P20-3",
"url": "",
"sequence": {
"sequence": "MKMASTRCKLARYLEDLEDVDLKKFKMHLEDYPPQKGCIPLPRGQTEKADHVDLATLMIDFNGEEKAWAMAVWIFAAINRRDLYEKAKRDEPKWGSDNARVSNPTVICQEDSIEEEWMGLLEYLSRISICKMKKDYRKKYRKYVRSRFQCIEDRNARLGESVSLNKRYTRLRLIKEHRSQQEREQELLAIGKTKTCESPVSPIKMELLFDPDDEHSEPVHTVVFQGAAGIGKTILARKMMLDWASGTLYQDRFDYLFYIHCREVSLVTQRSLGDLIMSCCPDPNPPIHKIVRKPSRILFLMDGFDELQGAFDEHIGPLCTDWQKAERGDILLSSLIRKKLLPEASLLITTRPVALEKLQHLLDHPRHVEILGFSEAKRKEYFFKYFSDEAQARAAFSLIQENEVLFTMCFIPLVCWIVCTGLKQQMESGKSLAQTSKTTTAVYVFFLSSLLQPRGGSQEHGLCAHLWGLCSLAADGIWNQKILFEESDLRNHGLQKADVSAFLRMNLFQKEVDCEKFYSFIHMTFQEFFAAMYYLLEEEKEGRTNVPGSRLKLPSRDVTVLLENYGKFEKGYLIFVVRFLFGLVNQERTSYLEKKLSCKISQQIRLELLKWIEVKAKAKKLQIQPSQLELFYCLYEMQEEDFVQRAMDYFPKIEINLSTRMDHMVSSFCIENCHRVESLSLGFLHNMPKEEEEEEKEGRHLDMVQCVLPSSSHAACSHG",
"length": 719,
"header": "sp|Q96P20-3|NLRP3_HUMAN Isoform 3 of NACHT, LRR and PYD domains-containing protein 3 OS=Homo sapiens OX=9606 GN=NLRP3 PE=1 SV=3 CANONICAL=Q96P20-1"
},
"locus": {}
},
{
"isoform_ac": "Q96P20-4",
"url": "",
"sequence": {
"sequence": "MKMASTRCKLARYLEDLEDVDLKKFKMHLEDYPPQKGCIPLPRGQTEKADHVDLATLMIDFNGEEKAWAMAVWIFAAINRRDLYEKAKRDEPKWGSDNARVSNPTVICQEDSIEEEWMGLLEYLSRISICKMKKDYRKKYRKYVRSRFQCIEDRNARLGESVSLNKRYTRLRLIKEHRSQQEREQELLAIGKTKTCESPVSPIKMELLFDPDDEHSEPVHTVVFQGAAGIGKTILARKMMLDWASGTLYQDRFDYLFYIHCREVSLVTQRSLGDLIMSCCPDPNPPIHKIVRKPSRILFLMDGFDELQGAFDEHIGPLCTDWQKAERGDILLSSLIRKKLLPEASLLITTRPVALEKLQHLLDHPRHVEILGFSEAKRKEYFFKYFSDEAQARAAFSLIQENEVLFTMCFIPLVCWIVCTGLKQQMESGKSLAQTSKTTTAVYVFFLSSLLQPRGGSQEHGLCAHLWGLCSLAADGIWNQKILFEESDLRNHGLQKADVSAFLRMNLFQKEVDCEKFYSFIHMTFQEFFAAMYYLLEEEKEGRTNVPGSRLKLPSRDVTVLLENYGKFEKGYLIFVVRFLFGLVNQERTSYLEKKLSCKISQQIRLELLKWIEVKAKAKKLQIQPSQLELFYCLYEMQEEDFVQRAMDYFPKIEINLSTRMDHMVSSFCIENCHRVESLSLGFLHNMPKEEEEEEKEGRHLDMVQCVLPSSSHAACSHGLGRCGLSHECCFDISLVLSSNQKLVELDLSDNALGDFGIRLLCVGLKHLLCNLKKLWLVSCCLTSACCQDLASVLSTSHSLTRLYVGENALGDSGVAILCEKAKNPQCNLQKLGLVNSGLTSVCCSALSSVLSTNQNLTHLYLRGNTLGDKGIKLLCEGLLHPDCKLQVLELDNCNLTSHCCWDLSTLLTSSQSLRKLSLGNNDLGDLGVMMFCEVLKQQSCLLQNLGLSEMYFNYETKSALETLQEEKPELTVVFEPSW",
"length": 979,
"header": "sp|Q96P20-4|NLRP3_HUMAN Isoform 4 of NACHT, LRR and PYD domains-containing protein 3 OS=Homo sapiens OX=9606 GN=NLRP3 PE=1 SV=3 CANONICAL=Q96P20-1"
},
"locus": {}
},
{
"isoform_ac": "Q96P20-5",
"url": "",
"sequence": {
"sequence": "MKMASTRCKLARYLEDLEDVDLKKFKMHLEDYPPQKGCIPLPRGQTEKADHVDLATLMIDFNGEEKAWAMAVWIFAAINRRDLYEKAKRDEPKWGSDNARVSNPTVICQEDSIEEEWMGLLEYLSRISICKMKKDYRKKYRKYVRSRFQCIEDRNARLGESVSLNKRYTRLRLIKEHRSQQEREQELLAIGKTKTCESPVSPIKMELLFDPDDEHSEPVHTVVFQGAAGIGKTILARKMMLDWASGTLYQDRFDYLFYIHCREVSLVTQRSLGDLIMSCCPDPNPPIHKIVRKPSRILFLMDGFDELQGAFDEHIGPLCTDWQKAERGDILLSSLIRKKLLPEASLLITTRPVALEKLQHLLDHPRHVEILGFSEAKRKEYFFKYFSDEAQARAAFSLIQENEVLFTMCFIPLVCWIVCTGLKQQMESGKSLAQTSKTTTAVYVFFLSSLLQPRGGSQEHGLCAHLWGLCSLAADGIWNQKILFEESDLRNHGLQKADVSAFLRMNLFQKEVDCEKFYSFIHMTFQEFFAAMYYLLEEEKEGRTNVPGSRLKLPSRDVTVLLENYGKFEKGYLIFVVRFLFGLVNQERTSYLEKKLSCKISQQIRLELLKWIEVKAKAKKLQIQPSQLELFYCLYEMQEEDFVQRAMDYFPKIEINLSTRMDHMVSSFCIENCHRVESLSLGFLHNMPKEEEEEEKEGRHLDMVQCVLPSSSHAACSHGLVNSHLTSSFCRGLFSVLSTSQSLTELDLSDNSLGDPGMRVLCETLQHPGCNIRRLWLGRCGLSHECCFDISLVLSSNQKLVELDLSDNALGDFGIRLLCVGLKHLLCNLKKLWLVNSGLTSVCCSALSSVLSTNQNLTHLYLRGNTLGDKGIKLLCEGLLHPDCKLQVLELDNCNLTSHCCWDLSTLLTSSQSLRKLSLGNNDLGDLGVMMFCEVLKQQSCLLQNLGLSEMYFNYETKSALETLQEEKPELTVVFEPSW",
"length": 979,
"header": "sp|Q96P20-5|NLRP3_HUMAN Isoform 5 of NACHT, LRR and PYD domains-containing protein 3 OS=Homo sapiens OX=9606 GN=NLRP3 PE=1 SV=3 CANONICAL=Q96P20-1"
},
"locus": {}
},
{
"isoform_ac": "Q96P20-6",
"url": "",
"sequence": {
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}
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{
"type": "PubMed",
"id": "37762140",
"url": "https://glygen.org/publication/PubMed/37762140"
}
]
},
{
"title": "Connexin-43 hemichannels orchestrate NOD-like receptor protein-3 (NLRP3) inflammasome activation and sterile inflammation in tubular injury.",
"journal": "Cell communication and signaling : CCS",
"date": "2023-09-28",
"authors": "Roger Elena, Chadjichristos Christos E, Kavvadas Panagiotis, Price Gareth W, Cliff Chelsy L, Hadjadj Safia, Renciot Jessy, Squires Paul E, Hills Claire E",
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{
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{
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}
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}
]
},
{
"title": "ATP induces nucleotide permeability in rat mast cells.",
"journal": "Nature",
"date": "1979",
"authors": "Cockcroft S, Gomperts BD",
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"id": "R-HSA-844456",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-844456"
}
],
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{
"type": "PubMed",
"id": "450099",
"url": "https://glygen.org/publication/PubMed/450099"
}
]
},
{
"title": "Hemoglobin. A biologic fenton reagent.",
"journal": "The Journal of biological chemistry",
"date": "1984",
"authors": "Sadrzadeh SM, Graf E, Panter SS, Hallaway PE, Eaton JW",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-9707564",
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}
],
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"type": "PubMed",
"id": "6094553",
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}
]
},
{
"title": "Purinoceptor-operated cationic channels in human B lymphocytes.",
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"id": "R-HSA-844456",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-844456"
}
],
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"type": "PubMed",
"id": "9023774",
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}
]
},
{
"title": "Functional association of Nmi with Stat5 and Stat1 in IL-2- and IFNgamma-mediated signaling.",
"journal": "Cell",
"date": "1999",
"authors": "Zhu M, John S, Berg M, Leonard WJ",
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{
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"id": "R-HSA-9692916",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9692916"
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"type": "PubMed",
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]
}
],
"pathway": [
{
"id": "hsa:114548",
"name": "",
"url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:114548",
"resource": "KEGG Pathway"
},
{
"id": "R-HSA-5689901",
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"resource": "Reactome",
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},
{
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"name": "The NLRP3 inflammasome",
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"description": "The NLRP3 inflammasome"
},
{
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},
{
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"description": "SARS-CoV-1 activates/modulates innate immune responses"
},
{
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},
{
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}
],
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"length": 1035
},
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}
],
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},
{
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"length": 1033
},
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"id": "45227219",
"url": "http://www.informatics.jax.org/homology/45227219",
"database": "MGI"
}
],
"common_name": "Mouse"
}
],
"go_annotation": {
"categories": [
{
"name": "Biological Process",
"total": 37,
"go_terms": [
{
"name": "pattern recognition receptor signaling pathway",
"id": "GO:0002221",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002221",
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{
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"id": "Q96P20",
"url": "https://www.uniprot.org/uniprot/Q96P20"
}
],
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},
{
"name": "detection of biotic stimulus",
"id": "GO:0009595",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009595",
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{
"database": "UniProtKB",
"id": "Q96P20",
"url": "https://www.uniprot.org/uniprot/Q96P20"
}
],
"pmid": ""
},
{
"name": "NLRP3 inflammasome complex assembly",
"id": "GO:0044546",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044546",
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{
"database": "UniProtKB",
"id": "Q96P20",
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}
],
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},
{
"name": "osmosensory signaling pathway",
"id": "GO:0007231",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007231",
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{
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"id": "Q96P20",
"url": "https://www.uniprot.org/uniprot/Q96P20"
}
],
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},
{
"name": "defense response",
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"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006952",
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{
"database": "UniProtKB",
"id": "Q96P20",
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}
],
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},
{
"name": "inflammatory response",
"id": "GO:0006954",
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{
"database": "UniProtKB",
"id": "Q96P20",
"url": "https://www.uniprot.org/uniprot/Q96P20"
}
],
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},
{
"name": "signal transduction",
"id": "GO:0007165",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165",
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{
"database": "UniProtKB",
"id": "Q96P20",
"url": "https://www.uniprot.org/uniprot/Q96P20"
}
],
"pmid": ""
},
{
"name": "positive regulation of cysteine-type endopeptidase activity involved in apoptotic process",
"id": "GO:0043280",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043280",
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{
"database": "UniProtKB",
"id": "Q96P20",
"url": "https://www.uniprot.org/uniprot/Q96P20"
}
],
"pmid": ""
},
{
"name": "innate immune response",
"id": "GO:0045087",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087",
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{
"database": "UniProtKB",
"id": "Q96P20",
"url": "https://www.uniprot.org/uniprot/Q96P20"
}
],
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},
{
"name": "positive regulation of transcription by RNA polymerase II",
"id": "GO:0045944",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045944",
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{
"database": "UniProtKB",
"id": "Q96P20",
"url": "https://www.uniprot.org/uniprot/Q96P20"
}
],
"pmid": ""
},
{
"name": "positive regulation of NF-kappaB transcription factor activity",
"id": "GO:0051092",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051092",
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{
"database": "UniProtKB",
"id": "Q96P20",
"url": "https://www.uniprot.org/uniprot/Q96P20"
}
],
"pmid": ""
},
{
"name": "protein homooligomerization",
"id": "GO:0051260",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051260",
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{
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"id": "Q96P20",
"url": "https://www.uniprot.org/uniprot/Q96P20"
}
],
"pmid": ""
},
{
"name": "positive regulation of NIK/NF-kappaB signaling",
"id": "GO:1901224",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901224",
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{
"database": "UniProtKB",
"id": "Q96P20",
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}
],
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},
{
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{
"database": "UniProtKB",
"id": "Q96P20",
"url": "https://www.uniprot.org/uniprot/Q96P20"
}
],
"pmid": ""
},
{
"name": "apoptotic process",
"id": "GO:0006915",
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{
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"id": "Q96P20",
"url": "https://www.uniprot.org/uniprot/Q96P20"
}
],
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},
{
"name": "negative regulation of interleukin-1 beta production",
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{
"database": "UniProtKB",
"id": "Q96P20",
"url": "https://www.uniprot.org/uniprot/Q96P20"
}
],
"pmid": ""
},
{
"name": "negative regulation of inflammatory response",
"id": "GO:0050728",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050728",
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{
"database": "UniProtKB",
"id": "Q96P20",
"url": "https://www.uniprot.org/uniprot/Q96P20"
}
],
"pmid": ""
},
{
"name": "cellular response to lipopolysaccharide",
"id": "GO:0071222",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071222",
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{
"database": "UniProtKB",
"id": "Q96P20",
"url": "https://www.uniprot.org/uniprot/Q96P20"
}
],
"pmid": ""
},
{
"name": "negative regulation of NF-kappaB transcription factor activity",
"id": "GO:0032088",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032088",
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{
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"id": "Q96P20",
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}
],
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},
{
"name": "positive regulation of inflammatory response",
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{
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"id": "Q96P20",
"url": "https://www.uniprot.org/uniprot/Q96P20"
}
],
"pmid": ""
},
{
"name": "negative regulation of NIK/NF-kappaB signaling",
"id": "GO:1901223",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901223",
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{
"database": "UniProtKB",
"id": "Q96P20",
"url": "https://www.uniprot.org/uniprot/Q96P20"
}
],
"pmid": ""
},
{
"name": "positive regulation of interleukin-1 beta production",
"id": "GO:0032731",
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{
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"id": "Q96P20",
"url": "https://www.uniprot.org/uniprot/Q96P20"
}
],
"pmid": ""
},
{
"name": "pyroptosis",
"id": "GO:0070269",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070269",
"evidence": [
{
"database": "UniProtKB",
"id": "Q96P20",
"url": "https://www.uniprot.org/uniprot/Q96P20"
}
],
"pmid": ""
},
{
"name": "cellular response to virus",
"id": "GO:0098586",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098586",
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{
"database": "UniProtKB",
"id": "Q96P20",
"url": "https://www.uniprot.org/uniprot/Q96P20"
}
],
"pmid": ""
},
{
"name": "protein maturation",
"id": "GO:0051604",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051604",
"evidence": [
{
"database": "UniProtKB",
"id": "Q96P20",
"url": "https://www.uniprot.org/uniprot/Q96P20"
}
],
"pmid": ""
},
{
"name": "positive regulation of T-helper 2 cell cytokine production",
"id": "GO:2000553",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000553",
"evidence": [
{
"database": "UniProtKB",
"id": "Q96P20",
"url": "https://www.uniprot.org/uniprot/Q96P20"
}
],
"pmid": ""
},
{
"name": "positive regulation of interleukin-4 production",
"id": "GO:0032753",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032753",
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{
"database": "UniProtKB",
"id": "Q96P20",
"url": "https://www.uniprot.org/uniprot/Q96P20"
}
],
"pmid": ""
},
{
"name": "positive regulation of T-helper 2 cell differentiation",
"id": "GO:0045630",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045630",
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{
"database": "UniProtKB",
"id": "Q96P20",
"url": "https://www.uniprot.org/uniprot/Q96P20"
}
],
"pmid": ""
},
{
"name": "positive regulation of type 2 immune response",
"id": "GO:0002830",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002830",
"evidence": [
{
"database": "UniProtKB",
"id": "Q96P20",
"url": "https://www.uniprot.org/uniprot/Q96P20"
}
],
"pmid": ""
},
{
"name": "positive regulation of interleukin-13 production",
"id": "GO:0032736",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032736",
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{
"database": "UniProtKB",
"id": "Q96P20",
"url": "https://www.uniprot.org/uniprot/Q96P20"
}
],
"pmid": ""
},
{
"name": "positive regulation of interleukin-5 production",
"id": "GO:0032754",
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{
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"id": "Q96P20",
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}
],
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},
{
"name": "positive regulation of T-helper 17 cell differentiation",
"id": "GO:2000321",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000321",
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{
"database": "UniProtKB",
"id": "Q96P20",
"url": "https://www.uniprot.org/uniprot/Q96P20"
}
],
"pmid": ""
},
{
"name": "defense response to Gram-positive bacterium",
"id": "GO:0050830",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050830",
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{
"database": "UniProtKB",
"id": "Q96P20",
"url": "https://www.uniprot.org/uniprot/Q96P20"
}
],
"pmid": ""
},
{
"name": "defense response to virus",
"id": "GO:0051607",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051607",
"evidence": [
{
"database": "UniProtKB",
"id": "Q96P20",
"url": "https://www.uniprot.org/uniprot/Q96P20"
}
],
"pmid": ""
},
{
"name": "activation of cysteine-type endopeptidase activity involved in apoptotic process",
"id": "GO:0006919",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006919",
"evidence": [
{
"database": "UniProtKB",
"id": "Q96P20",
"url": "https://www.uniprot.org/uniprot/Q96P20"
}
],
"pmid": ""
},
{
"name": "acute inflammatory response",
"id": "GO:0002526",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002526",
"evidence": [
{
"database": "UniProtKB",
"id": "Q96P20",
"url": "https://www.uniprot.org/uniprot/Q96P20"
}
],
"pmid": ""
},
{
"name": "cellular response to peptidoglycan",
"id": "GO:0071224",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071224",
"evidence": [
{
"database": "UniProtKB",
"id": "Q96P20",
"url": "https://www.uniprot.org/uniprot/Q96P20"
}
],
"pmid": ""
}
]
},
{
"name": "Molecular Function",
"total": 14,
"go_terms": [
{
"name": "molecular adaptor activity",
"id": "GO:0060090",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060090",
"evidence": [
{
"database": "UniProtKB",
"id": "Q96P20",
"url": "https://www.uniprot.org/uniprot/Q96P20"
}
],
"pmid": ""
},
{
"name": "peptidoglycan binding",
"id": "GO:0042834",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042834",
"evidence": [
{
"database": "UniProtKB",
"id": "Q96P20",
"url": "https://www.uniprot.org/uniprot/Q96P20"
}
],
"pmid": ""
},
{
"name": "ATP binding",
"id": "GO:0005524",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524",
"evidence": [
{
"database": "UniProtKB",
"id": "Q96P20",
"url": "https://www.uniprot.org/uniprot/Q96P20"
}
],
"pmid": ""
},
{
"name": "identical protein binding",
"id": "GO:0042802",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802",
"evidence": [
{
"database": "UniProtKB",
"id": "Q96P20",
"url": "https://www.uniprot.org/uniprot/Q96P20"
}
],
"pmid": ""
},
{
"name": "ATP hydrolysis activity",
"id": "GO:0016887",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016887",
"evidence": [
{
"database": "UniProtKB",
"id": "Q96P20",
"url": "https://www.uniprot.org/uniprot/Q96P20"
}
],
"pmid": ""
},
{
"name": "ADP binding",
"id": "GO:0043531",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043531",
"evidence": [
{
"database": "UniProtKB",
"id": "Q96P20",
"url": "https://www.uniprot.org/uniprot/Q96P20"
}
],
"pmid": ""
},
{
"name": "sequence-specific DNA binding",
"id": "GO:0043565",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043565",
"evidence": [
{
"database": "UniProtKB",
"id": "Q96P20",
"url": "https://www.uniprot.org/uniprot/Q96P20"
}
],
"pmid": ""
},
{
"name": "signaling adaptor activity",
"id": "GO:0035591",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035591",
"evidence": [
{
"database": "UniProtKB",
"id": "Q96P20",
"url": "https://www.uniprot.org/uniprot/Q96P20"
}
],
"pmid": ""
},
{
"name": "phosphatidylinositol-4-phosphate binding",
"id": "GO:0070273",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070273",
"evidence": [
{
"database": "UniProtKB",
"id": "Q96P20",
"url": "https://www.uniprot.org/uniprot/Q96P20"
}
],
"pmid": ""
},
{
"name": "phosphatidylinositol phosphate binding",
"id": "GO:1901981",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901981",
"evidence": [
{
"database": "UniProtKB",
"id": "Q96P20",
"url": "https://www.uniprot.org/uniprot/Q96P20"
}
],
"pmid": ""
},
{
"name": "molecular condensate scaffold activity",
"id": "GO:0140693",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140693",
"evidence": [
{
"database": "UniProtKB",
"id": "Q96P20",
"url": "https://www.uniprot.org/uniprot/Q96P20"
}
],
"pmid": ""
},
{
"name": "small molecule sensor activity",
"id": "GO:0140299",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140299",
"evidence": [
{
"database": "UniProtKB",
"id": "Q96P20",
"url": "https://www.uniprot.org/uniprot/Q96P20"
}
],
"pmid": ""
},
{
"name": "DNA-binding transcription factor binding",
"id": "GO:0140297",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140297",
"evidence": [
{
"database": "UniProtKB",
"id": "Q96P20",
"url": "https://www.uniprot.org/uniprot/Q96P20"
}
],
"pmid": ""
},
{
"name": "cysteine-type endopeptidase activator activity",
"id": "GO:0140608",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140608",
"evidence": [
{
"database": "UniProtKB",
"id": "Q96P20",
"url": "https://www.uniprot.org/uniprot/Q96P20"
}
],
"pmid": ""
}
]
},
{
"name": "Cellular Component",
"total": 11,
"go_terms": [
{
"name": "Golgi membrane",
"id": "GO:0000139",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000139",
"evidence": [
{
"database": "UniProtKB",
"id": "Q96P20",
"url": "https://www.uniprot.org/uniprot/Q96P20"
}
],
"pmid": ""
},
{
"name": "extracellular region",
"id": "GO:0005576",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576",
"evidence": [
{
"database": "UniProtKB",
"id": "Q96P20",
"url": "https://www.uniprot.org/uniprot/Q96P20"
}
],
"pmid": ""
},
{
"name": "nucleus",
"id": "GO:0005634",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634",
"evidence": [
{
"database": "UniProtKB",
"id": "Q96P20",
"url": "https://www.uniprot.org/uniprot/Q96P20"
}
],
"pmid": ""
},
{
"name": "cytoplasm",
"id": "GO:0005737",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737",
"evidence": [
{
"database": "UniProtKB",
"id": "Q96P20",
"url": "https://www.uniprot.org/uniprot/Q96P20"
}
],
"pmid": ""
},
{
"name": "mitochondrion",
"id": "GO:0005739",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739",
"evidence": [
{
"database": "UniProtKB",
"id": "Q96P20",
"url": "https://www.uniprot.org/uniprot/Q96P20"
}
],
"pmid": ""
},
{
"name": "endoplasmic reticulum",
"id": "GO:0005783",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783",
"evidence": [
{
"database": "UniProtKB",
"id": "Q96P20",
"url": "https://www.uniprot.org/uniprot/Q96P20"
}
],
"pmid": ""
},
{
"name": "cytosol",
"id": "GO:0005829",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829",
"evidence": [
{
"database": "UniProtKB",
"id": "Q96P20",
"url": "https://www.uniprot.org/uniprot/Q96P20"
}
],
"pmid": ""
},
{
"name": "membrane",
"id": "GO:0016020",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020",
"evidence": [
{
"database": "UniProtKB",
"id": "Q96P20",
"url": "https://www.uniprot.org/uniprot/Q96P20"
}
],
"pmid": ""
},
{
"name": "microtubule organizing center",
"id": "GO:0005815",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005815",
"evidence": [
{
"database": "UniProtKB",
"id": "Q96P20",
"url": "https://www.uniprot.org/uniprot/Q96P20"
}
],
"pmid": ""
},
{
"name": "NLRP3 inflammasome complex",
"id": "GO:0072559",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072559",
"evidence": [
{
"database": "UniProtKB",
"id": "Q96P20",
"url": "https://www.uniprot.org/uniprot/Q96P20"
}
],
"pmid": ""
},
{
"name": "interphase microtubule organizing center",
"id": "GO:0031021",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031021",
"evidence": [
{
"database": "UniProtKB",
"id": "Q96P20",
"url": "https://www.uniprot.org/uniprot/Q96P20"
}
],
"pmid": ""
}
]
}
]
},
"pro_annotation": [],
"site_annotation": [
{
"start_pos": 656,
"end_pos": 658,
"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 913,
"end_pos": 915,
"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 952,
"end_pos": 954,
"annotation": "n_glycosylation_sequon"
}
],
"ptm_annotation": [
{
"annotation": "(Microbial infection) ADP-ribosylated by M.pneumoniae CARDS toxin in vitro.",
"evidence": [
{
"database": "UniProtKB",
"id": "Q96P20",
"url": "https://www.uniprot.org/uniprot/Q96P20"
},
{
"database": "PubMed",
"id": "25538194",
"url": "https://glygen.org/publication/PubMed/25538194"
}
]
},
{
"annotation": "Degraded via selective autophagy following interaction with IRGM (PubMed:30612879). IRGM promotes NLRP3 recruitment to autophagosome membranes, promoting its SQSTM1/p62-dependent autophagy-dependent degradation (PubMed:30612879).",
"evidence": [
{
"database": "UniProtKB",
"id": "Q96P20",
"url": "https://www.uniprot.org/uniprot/Q96P20"
},
{
"database": "PubMed",
"id": "30612879",
"url": "https://glygen.org/publication/PubMed/30612879"
}
]
},
{
"annotation": "Palmitoylation by ZDHHC12 inhibits the NLRP3 inflammasome by promoting NLRP3 degradation by the chaperone-mediated autophagy pathway (PubMed:36586411). Following palmitoylation, HSPA8/HSC70 recognizes and binds the KFERQ-like motifs on NLRP3 and promotes NLRP3 recruitment to lysosomes, where it is degraded via the chaperone-mediated autophagy pathway in a LAMP2-dependent process (PubMed:36586411).",
"evidence": [
{
"database": "UniProtKB",
"id": "Q96P20",
"url": "https://www.uniprot.org/uniprot/Q96P20"
},
{
"database": "PubMed",
"id": "36586411",
"url": "https://glygen.org/publication/PubMed/36586411"
}
]
},
{
"annotation": "Phosphorylation at Ser-198 by MAPK8/JNK1 increases inflammasome activation by promoting deubiquitination by BRCC3 and NLRP3 homooligomerization (PubMed:28943315). Phosphorylation at Ser-806 by CSNK1A1 prevents inflammasome activation by preventing NEK7 recruitment (PubMed:34615873). Phosphorylation at Ser-5 in the pyrin domain inhibits homomultimerization of NLRP3 and activation of the NLRP3 inflammasome: dephosphorylation by protein phosphatase 2A (PP2A) promotes assembly of the NLRP3 inflammasome (PubMed:28465465). Phosphorylation at Ser-295 by PKD/PRKD1 promotes NLRP3 inflammasome assembly (By similarity). Phosphorylation by ERK1/MAPK3 promotes NLRP3 inflammasome assembly (PubMed:24623131). Phosphorylation by BTK (at Tyr-136, Tyr-140, Tyr-143 and Tyr-168) in the region that mediates binding to phosphatidylinositol phosphate, promotes relocalization of NLRP3 and assembly of the NLRP3 inflammasome (PubMed:34554188). Phosphorylation at Tyr-861 inhibits NLRP3 inflammasome assembly: dephosphorylation by PTPN22 promotes inflammasome activation (PubMed:27043286).",
"evidence": [
{
"database": "UniProtKB",
"id": "Q96P20",
"url": "https://www.uniprot.org/uniprot/Q96P20"
},
{
"database": "PubMed",
"id": "Q8R4B8",
"url": "https://glygen.org/publication/PubMed/Q8R4B8"
},
{
"database": "PubMed",
"id": "34615873",
"url": "https://glygen.org/publication/PubMed/34615873"
},
{
"database": "PubMed",
"id": "24623131",
"url": "https://glygen.org/publication/PubMed/24623131"
},
{
"database": "PubMed",
"id": "27043286",
"url": "https://glygen.org/publication/PubMed/27043286"
},
{
"database": "PubMed",
"id": "34554188",
"url": "https://glygen.org/publication/PubMed/34554188"
},
{
"database": "PubMed",
"id": "28465465",
"url": "https://glygen.org/publication/PubMed/28465465"
},
{
"database": "PubMed",
"id": "28943315",
"url": "https://glygen.org/publication/PubMed/28943315"
}
]
},
{
"annotation": "The disulfide bond in the pyrin domain might play a role in reactive oxygen species-mediated activation.",
"evidence": [
{
"database": "UniProtKB",
"id": "Q96P20",
"url": "https://www.uniprot.org/uniprot/Q96P20"
},
{
"database": "PubMed",
"id": "21880711",
"url": "https://glygen.org/publication/PubMed/21880711"
}
]
},
{
"annotation": "Ubiquitinated; undergoes both 'Lys-48'- and 'Lys-63'-linked polyubiquitination (PubMed:22948162, PubMed:27929086). Ubiquitination does not lead to degradation, but inhibits inflammasome activation (By similarity). Deubiquitination is catalyzed by BRCC3 and associated with NLRP3 activation and inflammasome assembly (By similarity). This process can be induced by the activation of Toll-like receptors (by LPS), through a non-transcriptional pathway dependent on the mitochondrial production of reactive oxygen species, and by ATP (By similarity). Ubiquitinated by TRIM31 via 'Lys-48'-linked ubiquitination, leading to its degradation by the proteasome (PubMed:27929086). Ubiquitinated at Lys-689 by the SCF(FBXL2) complex, leading to its degradation by the proteasome (PubMed:26037928). Ubiquitinated by TRIM35 via 'lys-48' and 'Lys-63'-linked ubiquitination leading to inhibition of NLRP3 inflammasome activation (PubMed:34512673).",
"evidence": [
{
"database": "UniProtKB",
"id": "Q96P20",
"url": "https://www.uniprot.org/uniprot/Q96P20"
},
{
"database": "PubMed",
"id": "Q8R4B8",
"url": "https://glygen.org/publication/PubMed/Q8R4B8"
},
{
"database": "PubMed",
"id": "26037928",
"url": "https://glygen.org/publication/PubMed/26037928"
},
{
"database": "PubMed",
"id": "34512673",
"url": "https://glygen.org/publication/PubMed/34512673"
},
{
"database": "PubMed",
"id": "27929086",
"url": "https://glygen.org/publication/PubMed/27929086"
},
{
"database": "PubMed",
"id": "22948162",
"url": "https://glygen.org/publication/PubMed/22948162"
}
]
}
],
"interactions": [],
"reactions": [
{
"id": "13065",
"name": "",
"equation": "ATP + H2O = ADP + H(+) + phosphate",
"summary": "",
"cellular_location": "",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
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"evidence": [
{
"id": "13065",
"database": "Rhea",
"url": "https://www.rhea-db.org/rhea/13065"
}
]
},
{
"id": "R-HSA-1250272",
"name": "TXNIP binds NLRP3",
"equation": "",
"summary": "Thioredoxin-interacting protein (TXNIP) binds NLRP3. Reactive oxygen species (ROS) such as H2O2 increase this interaction, while the ROS inhibitor APDC blocks it (Zhou et al. 2010). This interaction is proposed to activate the NLRP3 inflammasome.
Heme oxygenase (HMOX1), besides its enzymatic activity of the dimeric membrane protein isoform, also occurs as soluble cytosolic protein. It is probably this form that binds to the NACHT domain of NLRP3, suppressing production of epithelial cell-derived cytokines induced by activation of the NLRP3 inflammasome, and protecting airway epithelium in asthma (Lv et al, 2018).",
"cellular_location": "cytosol",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P09601-1",
"Q96P20-1"
],
"evidence": [
{
"id": "R-HSA-1250272",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1250272"
}
]
},
{
"id": "R-HSA-1296421",
"name": "NLRP3 oligomerizes via NACHT domains",
"equation": "",
"summary": "NLRP3 contains a NACHT/NOD domain that in related proteins is responsible for oligomerization (Inohara & Nunez 2001, 2003). NLRP1 forms oligomers upon stimulation with MDP (Faustin et al. 2007) and the enforced oligomerization of NLRP3 PYD domains enhances ASC-dependent effects on apoptosis (Dowds et al. 2002). NOD-mediated oligomerization is widely considered to be part of the activation process for the NLRP3 inflammasome (Schroder et al. 2010, Schroder & Tschopp, 2010). The extent of oligomerization is not known, but models based on the the apoptotic initiator protein Apaf-1 suggest a posible heptameric platform (Proell et al. 2008).",
"cellular_location": "cytosol",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"Q96P20-1"
],
"evidence": [
{
"id": "R-HSA-1296421",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1296421"
}
]
},
{
"id": "R-HSA-1306876",
"name": "NLRP3 activation by small molecules",
"equation": "",
"summary": "The NLRP3 inflammasome is activated by a range of stimuli of microbial, endogenous and exogenous origins including several viruses, bacterial pore forming toxins (e.g. Craven et al. 2009), and various irritants that form crystalline or particulate structures (see Cassel et al. 2009). Multiple studies have shown that phagocytosis of particulate elicitors is necessary for activation (e.g. Hornung et al. 2008) but not for the response to ATP, which is mediated by the P2X7 receptor (Kahlenberg & Dubyak, 2004) and appears to involve the pannexin membrane channel (Pellegrin & Suprenenant 2006), which is also involved in the response to nigericin and maitotoxin (Pellegrin & Suprenenant 2007). Direct binding of elicitors to NLRP3 has not been demonstrated and the exact process of activation is unclear, though speculated to involve changes in conformation that make available the NACHT domain for oligomerization (Inohara & Nunez 2001, 2003).
Three overlapping mechanisms are believed to be involved in NLRP3 activation. ATP stimulates the P2X7 ATP-gated ion channel leading to K+ efflux which appears necessary for NLRP3 inflammasome activation (Kahlenberg & Dubyak 2004, Dostert et al. 2008), and is believed to induce formation of pannexin-1 membrane pores. These pores give direct access of NLPR3 agonists to the cytosol. A second mechanism is the endocytosis of crystalline or particulate structures, leading to damaged lysosomes which release their contents (Hornung et al. 2008, Halle et al. 2008). The third element is the generation of reactive oxygen species (ROS) which activate NLRP3, shown to be a critical step for the activation of caspase-1 following ATP stimulation (Cruz et al. 2007). The source of the ROS is unclear.",
"cellular_location": "cytosol",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"Q96P20-1"
],
"evidence": [
{
"id": "R-HSA-1306876",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1306876"
}
]
},
{
"id": "R-HSA-5691439",
"name": "BRISC complex deubiquitinates NLRP3",
"equation": "",
"summary": "As part of the cytosolic BRISC complex (Cooper et al. 2009), BRCC3 regulates NLRP3 activity by promoting K63-deubiquitination of its LRR domain (Py et al. 2013). FAM175B (ABRO1), another BRISC subunit, binds directly to NLRP3 leading to FAM175B-dependent recruitment of the BRISC complex which mediates deubiquitination of NLRP3 upon inflammasome activation (Ren G et al.2019). In addition, FAM175B (ABRO1) enhanced BRCC3 protein stability by inhibiting WWP2-mediated ubiquitination and degradation of BRCC3 through the ubiquitin-proteasome pathway (Zhang W et al. 2021).The consequent activation of NLRP3 has been proposed to mediate necrotic cell sensing and the subsequent release of the proinflammatory cytokine IL-1Beta after hypoxic injury (Iyer et al. 2009).",
"cellular_location": "cytosol",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P46736-1",
"Q96P20-1"
],
"evidence": [
{
"id": "R-HSA-5691439",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5691439"
}
]
},
{
"id": "R-HSA-844440",
"name": "NLRP3 activation by elicitor proteins",
"equation": "",
"summary": "The NLRP3 inflammasome is activated by a range of stimuli of microbial, endogenous and exogenous origins including several viruses, bacterial pore forming toxins (e.g. Craven et al. 2009), and various irritants that form crystalline or particulate structures (see Cassel et al. 2009). Multiple studies have shown that phagocytosis of particulate elicitors is necessary for activation (e.g. Hornung et al. 2008) but not for the response to ATP, which is mediated by the P2X7 receptor (Kahlenberg & Dubyak, 2004) and appears to involve the pannexin membrane channel (Pellegrin & Suprenenant 2006), which is also involved in the response to nigericin and maitotoxin (Pellegrin & Suprenenant 2007). Direct binding of elicitors to NLRP3 has not been demonstrated and the exact process of activation is unclear, though speculated to involve changes in conformation that make available the NACHT domain for oligomerization (Inohara & Nunez 2001, 2003).
Three overlapping mechanisms are believed to be involved in NLRP3 activation. ATP stimulates the P2X7 ATP-gated ion channel leading to K+ efflux which appears necessary for NLRP3 inflammasome activation (Kahlenberg & Dubyak 2004, Dostert et al. 2008), and is believed to induce formation of pannexin-1 membrane pores. These pores give direct access of NLPR3 agonists to the cytosol. A second mechanism is the endocytosis of crystalline or particulate structures, leading to damaged lysosomes which release their contents (Hornung et al. 2008, Halle et al. 2008). The third element is the generation of reactive oxygen species (ROS) which activate NLRP3, shown to be a critical step for the activation of caspase-1 following ATP stimulation (Cruz et al. 2007). The source of the ROS is unclear.",
"cellular_location": "cytosol",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"Q96P20-1"
],
"evidence": [
{
"id": "R-HSA-844440",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-844440"
}
]
},
{
"id": "R-HSA-844610",
"name": "NLRP3 recruits PYCARD (ASC) via a PYD-PYD interaction",
"equation": "",
"summary": "NLRP3 interacts with ASC (Manji et al. 2003) via their PYD domains (Dowds et al. 2004). NLRP3 oligomerization leads to PYD domain clustering which is believed to facilitate the interaction of NLRP3 with the PYD domain of ASC (Schroder & Tschopp, 2010).",
"cellular_location": "cytosol",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"Q96P20-1"
],
"evidence": [
{
"id": "R-HSA-844610",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-844610"
}
]
},
{
"id": "R-HSA-844612",
"name": "PYCARD recruits procaspase-1 via CARD",
"equation": "",
"summary": "Procaspase-1 is recruited via a CARD-CARD interaction with ASC. This creates procaspase-1 clustering which is believed to stimulate procaspase-1 autocleavage, generating the p10/p20 fragments that assemble into the active capsase-1 tetramer (Schroder & Tschopp, 2010).",
"cellular_location": "cytosol",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P29466-1",
"Q96P20-1"
],
"evidence": [
{
"id": "R-HSA-844612",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-844612"
}
]
},
{
"id": "R-HSA-873951",
"name": "SGT1:HSP90 binds inactive NLRP3",
"equation": "",
"summary": "SGT1 and HSP90 bind the NLRP3 (NALP3) LRR domain.; ; Genetic studies in plants suggest a role for SGT1-HSP90 as co-chaperones of plant resistance (R) proteins, serving to maintain them in an inactive but signaling-competent state. R-protein activation is beleived to lead to dissociation of the SGT1-HSP90 complex. SGT1 and HSP90 are highly conserved, while R proteins are structurally related to mammalian NLRs.; ; Human SGT1 and HSP90 were found to bind NLRP3 (Mayor et al. 2007). Knockdown of human SGT1 by small interfering RNA or chemical inhibition of HSP90 by geldanamycin abrogated NLRP3 inflammasome activity in human monocytic cell line THP-1 (Mayor et al. 2007). Similarly, NLRP3 inflammasome activation was abrogated in geldanamycin-treated human retinal pigment epithelial (RPE) cells (Piippo N et al. 2018). These data indicate that SGT1 and HSP90 are involved in regulation of NLRP3 inflammasome signaling (Mayor et al. 2007; Piippo N et al. 2018). ;",
"cellular_location": "cytosol",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"Q96P20-1"
],
"evidence": [
{
"id": "R-HSA-873951",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-873951"
}
]
},
{
"id": "R-HSA-9603905",
"name": "Expression of NLRP3 gene",
"equation": "",
"summary": "Two signals are required for NLRP3 inflammasome activation. Signal 1, also known as the priming signal, is mediated by microbial ligands recognised by TLRs or cytokines such as TNF-\u03b1 which activate the NF-\u03baB pathway, leading to upregulation of pro-IL-1\u03b2 and NLRP3 protein levels (Bauernfeind et al. 2009, Jo et al. 2016). In the absence of TLR agonist 'priming', inflammasome dependent caspase-1 activation is observed but IL-1 beta secretion is minimal. This is primarily because pro-IL1 beta is not expressed in most cells until stimulated by proinflammatory signals such as TNF or LPS that activate NFkappaB. NFkappaB induces expression of pro-IL1beta that can be activated by caspase-1.",
"cellular_location": "cytosol, nucleoplasm",
"input_participant_list": [
"R-HSA-9603902"
],
"output_participant_list": [
"R-HSA-561189"
],
"enzyme_list": [
"Q96P20-1"
],
"evidence": [
{
"id": "R-HSA-9603905",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9603905"
}
]
},
{
"id": "R-HSA-9685268",
"name": "SARS-CoV-1 8b binds NLRP3",
"equation": "",
"summary": "Open reading frame 8b (orf8b) of Severe Acute Respiratory Syndrome Coronavirus type 1 (SARS\u2011CoV\u20111) interacts with the leucine rich repeat (LRR) domain of NACHT, LRR and PYD domain\u2011containing protein 3 (NLRP3) (Shi CS et al. 2019). Viral 8b formed insoluble protein aggregates and co\u2011localized with NLRP3 and Apoptosis\u2011associated Speck\u2011like protein containing a CARD (ASC, PYCARD) in cytosolic dot\u2011like structures in the human macrophage THP\u20111 cells. SARS\u2011CoV\u20111 8b is thought to activate the NLRP3 inflammasome and trigger Interleukin\u20111\u03b2 (IL\u20111\u03b2) release (Shi CS et al. 2019). In addition, aggregated 8b caused endoplasmic reticulum (ER) and lysosomal stress, which led to the nuclear translocation of transcription factor EB (TFEB) and the upregulation of TFEB target genes involved in lysosomal function such as lysosome\u2011associated membrane protein 1 (LAMP1) (Shi CS et al. 2019). TFEB is also required for the expression of proinflammatory genes including IL\u20111\u03b2 and tumor necrosis factor (TNF) (reviewed in Nabar NR & Kehrl JH 2017).",
"cellular_location": "cytosol",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"Q96P20-1"
],
"evidence": [
{
"id": "R-HSA-9685268",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9685268"
}
]
},
{
"id": "R-HSA-9685281",
"name": "SARS-CoV-1 3a binds TRAF3 within NLRP3 inflammasome",
"equation": "",
"summary": "Severe acute respiratory syndrome coronavirus type 1 (SARS\u2011CoV\u20111) open reading frame 3a (orf3a or 3a) protein activates the NLRP3 inflammasome in human cells (Siu KL et al. 2019). Viral 3a contains a tumor necrosis factor (TNF) receptor\u2011associated factor (TRAF)\u2011binding motif, PLQAS, located at aa 36\u201140. The viral 3a protein was shown to interact with endogenous TRAF3 and Apoptosis\u2011associated Speck\u2011like protein containing a CARD (ASC, PYCARD) in 3a\u2011expressing human monocytic THP\u20111 cells. Similar results were obtained in human embryonic kidney 293 (HEK293) cells ectopically expressing differentially tagged viral 3a, PYCARD (ASC) or TRAF3 proteins. In addition, orf3a colocalized with TRAF3 and ASC in discrete punctate structures in the cytoplasm of human lung adenocarcinoma A549 cells derived from alveolar basal epithelium (Siu KL et al. 2019). The data suggest that viral 3a promotes NLRP3 inflammasome activation by interaction with both TRAF3 and PYCARD (ASC) to facilitate TRAF3\u2011mediated K63\u2011linked polyubiquitination of PYCARD, leading to the formation of PYCARD (ASC) specks (Siu KL et al. 2019). In addition, 3a promoted TRAF3\u2011mediated ubiquitination of p105, leading to NF\u2011\u03baappaB\u2011induced transcription of pro\u2011IL\u20111\u03b2, and thus providing signal 1 for NLRP3 inflammasome activation (Siu KL et al. 2019).",
"cellular_location": "cytosol, mitochondrial outer membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"Q96P20-1"
],
"evidence": [
{
"id": "R-HSA-9685281",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9685281"
}
]
},
{
"id": "R-HSA-9757097",
"name": "SARS-CoV-2 N binds NLRP3",
"equation": "",
"summary": "The NLRP3 inflammasome is activated in response to SARS-CoV-2 infection and is associated with severity and outcomes in COVID-19 patients (Rodrigues TS et al. 2021; Stefano Toldo S et al. 2021; Pan P et al. 2021). The nucleocapsid protein (N) of SARS-CoV-2 was found to induce activation of the NLRP3 inflammasome (Pan P et al. 2021). Co-immunoprecipitation (Co-IP) assays showed that N interacted with the NLRP3 protein upon co-expression in human embryonic kidney 293T (HEK293T) cells and in human lung carcinoma A549 cells (Pan P et al. 2021). The binding of N to NLRP3 enhanced the interaction between NLRP3 and PYCARD (ASC) in a dose-dependent manner. Co-IP also revealed that viral N interacted with endogenous PYCARD (ASC) in the presence of NLRP3 in phorbol 12-myristate 13-acetate (PMA)-differentiated human monocytic (THP-1) cells. Moreover, confocal microscope analyses showed that N co-localized with NLRP3 and induced PYCARD speck formation in the cytoplasm of HEK293T, A549 cells. Similarly, N promoted oligomerization of PYCARD in THP-1 cells (Pan P et al. 2021). Expression of SARS-CoV-2 N induced cleavage and secretion of interleukin (IL)-1\u03b2 as well as activation of caspase-1 in THP-1cells and HEK293T cells (Pan P et al. 2021). Further, viral N induced production of proinflammatory cytokines such as IL-1\u03b2, IL-6, TNF and CCL2, in human THP-1 cells and in the lung of mice injected with adenovirus-associated virus (AAV)-based vectors expressing SARS-CoV-2 N ((Pan P et al. 2021). Overall, these data suggest that SARS-CoV-2 N binds NLRP3 to promote the assembly and activation of the NLRP3 inflammasome.",
"cellular_location": "cytosol",
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"id": "R-HSA-9757097",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9757097"
}
]
}
],
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},
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}
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