{
"uniprot_canonical_ac": "O60313-1",
"uniprot_ac": "O60313",
"uniprot_id": "OPA1_HUMAN",
"mass": {
"chemical_mass": 111631.0,
"monoisotopic_mass": 111631.0
},
"refseq": {
"ac": "NP_056375",
"name": "dynamin-like 120 kDa protein, mitochondrial isoform 1 preproprotein",
"summary": "The protein encoded by this gene is a nuclear-encoded mitochondrial protein with similarity to dynamin-related GTPases. The encoded protein localizes to the inner mitochondrial membrane and helps regulate mitochondrial stability and energy output. This protein also sequesters cytochrome c. Mutations in this gene have been associated with optic atrophy type 1, which is a dominantly inherited optic neuropathy resulting in progressive loss of visual acuity, leading in many cases to legal blindness. [provided by RefSeq, Aug 2017].",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_056375"
},
"gene_names": [
{
"name": "OPA1",
"resource": "UniProtKB",
"type": "recommended",
"url": "https://www.uniprot.org/uniprot/O60313",
"id": "O60313"
},
{
"name": "BERHS; largeG; MGM1; MTDPS14; NPG; NTG",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_056375",
"id": "NP_056375"
},
{
"name": "KIAA0567",
"resource": "UniProtKB",
"type": "synonym",
"url": "https://www.uniprot.org/uniprot/O60313",
"id": "O60313"
},
{
"name": "OPA1",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_056375",
"id": "NP_056375"
},
{
"name": "hCG_17270",
"resource": "UniProtKB",
"type": "synonym",
"url": "https://www.uniprot.org/uniprot/O60313",
"id": "O60313"
}
],
"protein_names": [
{
"name": "Dynamin-like 120 kDa protein, mitochondrial",
"resource": "UniProtKB",
"type": "recommended",
"url": "",
"id": "O60313"
},
{
"name": "3.6.5.5",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "O60313"
},
{
"name": "Optic atrophy protein 1",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "O60313"
},
{
"name": "dynamin-like 120 kDa protein, mitochondrial isoform 1 preproprotein",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_056375",
"id": "NP_056375"
},
{
"name": "mitochondrial dynamin-like GTPase; dynamin-like 120 kDa protein, mitochondrial; optic atrophy protein 1; dynamin-like guanosine triphosphatase; optic atrophy 1 (autosomal dominant)",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_056375",
"id": "NP_056375"
}
],
"function": [
{
"annotation": "BCL11B and the NuRD complex cooperatively guard T-cell fate and inhibit OPA1-mediated mitochondrial fusion in T cells.",
"evidence": [
{
"database": "RefSeq",
"id": "NP_056375",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_056375"
},
{
"database": "PubMed",
"id": "37737560",
"url": "https://glygen.org/publication/PubMed/37737560"
}
]
},
{
"annotation": "Dynamin-related GTPase that is essential for normal mitochondrial morphology by regulating the equilibrium between mitochondrial fusion and mitochondrial fission (PubMed:16778770, PubMed:17709429, PubMed:20185555, PubMed:24616225, PubMed:28746876). Coexpression of isoform 1 with shorter alternative products is required for optimal activity in promoting mitochondrial fusion (PubMed:17709429). Binds lipid membranes enriched in negatively charged phospholipids, such as cardiolipin, and promotes membrane tubulation (PubMed:20185555). The intrinsic GTPase activity is low, and is strongly increased by interaction with lipid membranes (PubMed:20185555). Plays a role in remodeling cristae and the release of cytochrome c during apoptosis (By similarity). Proteolytic processing in response to intrinsic apoptotic signals may lead to disassembly of OPA1 oligomers and release of the caspase activator cytochrome C (CYCS) into the mitochondrial intermembrane space (By similarity). Plays a role in mitochondrial genome maintenance (PubMed:20974897, PubMed:18158317).",
"evidence": [
{
"database": "UniProtKB",
"id": "O60313",
"url": "https://www.uniprot.org/uniprot/O60313#function"
},
{
"database": "PubMed",
"id": "17709429",
"url": "https://glygen.org/publication/PubMed/17709429"
},
{
"database": "PubMed",
"id": "16778770",
"url": "https://glygen.org/publication/PubMed/16778770"
},
{
"database": "PubMed",
"id": "20185555",
"url": "https://glygen.org/publication/PubMed/20185555"
},
{
"database": "PubMed",
"id": "18158317",
"url": "https://glygen.org/publication/PubMed/18158317"
},
{
"database": "UniProtKB",
"id": "P58281",
"url": "https://www.uniprot.org/uniprot/P58281#function"
},
{
"database": "PubMed",
"id": "20974897",
"url": "https://glygen.org/publication/PubMed/20974897"
},
{
"database": "PubMed",
"id": "24616225",
"url": "https://glygen.org/publication/PubMed/24616225"
},
{
"database": "PubMed",
"id": "28746876",
"url": "https://glygen.org/publication/PubMed/28746876"
}
]
},
{
"annotation": "Human retinal organoids with an OPA1 mutation are defective in retinal ganglion cell differentiation and function.",
"evidence": [
{
"database": "RefSeq",
"id": "NP_056375",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_056375"
},
{
"database": "PubMed",
"id": "38101398",
"url": "https://glygen.org/publication/PubMed/38101398"
}
]
},
{
"annotation": "Inactive form produced by cleavage at S1 position by OMA1 following stress conditions that induce loss of mitochondrial membrane potential, leading to negative regulation of mitochondrial fusion.",
"evidence": [
{
"database": "UniProtKB",
"id": "O60313",
"url": "https://www.uniprot.org/uniprot/O60313#function"
},
{
"database": "PubMed",
"id": "20038677",
"url": "https://glygen.org/publication/PubMed/20038677"
}
]
},
{
"annotation": "Isoforms that contain the alternative exon 4b (present in isoform 4 and isoform 5) are required for mitochondrial genome maintenance, possibly by anchoring the mitochondrial nucleoids to the inner mitochondrial membrane.",
"evidence": [
{
"database": "UniProtKB",
"id": "O60313",
"url": "https://www.uniprot.org/uniprot/O60313#function"
},
{
"database": "PubMed",
"id": "20974897",
"url": "https://glygen.org/publication/PubMed/20974897"
}
]
},
{
"annotation": "Multi-omics analysis of the oncogenic role of optic atrophy 1 in human cancer.",
"evidence": [
{
"database": "RefSeq",
"id": "NP_056375",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_056375"
},
{
"database": "PubMed",
"id": "37980164",
"url": "https://glygen.org/publication/PubMed/37980164"
}
]
},
{
"annotation": "Role of mitochondrial fusion proteins MFN2 and OPA1 on lung cellular senescence in chronic obstructive pulmonary disease. Publication Status: Online-Only",
"evidence": [
{
"database": "RefSeq",
"id": "NP_056375",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_056375"
},
{
"database": "PubMed",
"id": "38110986",
"url": "https://glygen.org/publication/PubMed/38110986"
}
]
},
{
"annotation": "The protein encoded by this gene is a nuclear-encoded mitochondrial protein with similarity to dynamin-related GTPases. The encoded protein localizes to the inner mitochondrial membrane and helps regulate mitochondrial stability and energy output. This protein also sequesters cytochrome c. Mutations in this gene have been associated with optic atrophy type 1, which is a dominantly inherited optic neuropathy resulting in progressive loss of visual acuity, leading in many cases to legal blindness. [provided by RefSeq, Aug 2017].",
"evidence": [
{
"database": "RefSeq",
"id": "NP_056375",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_056375"
}
]
}
],
"disease": [
{
"disease_id": "DOID:0080336",
"recommended_name": {
"id": "DOID:0080336",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0080336",
"name": "mitochondrial DNA depletion syndrome 14",
"description": "A mitochondrial DNA depletion syndrome that is characterized by severe lethal infantile mitochondrial encephalomyopathy and hypertrophic cardiomyopathy, with hypotonia and peripheral hypertonia with opisthotonic posturing, as well as feeding difficulties and profound neurodevelopmental delay, and has_material_basis_in homozygous mutation in the OPA1 mitochondrial dynamin like GTPase gene on chromosome 3q29."
},
"synonyms": [
{
"id": "MONDO:0014820",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0014820",
"name": "mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)",
"description": "Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the OPA1 gene."
},
{
"id": "MONDO:0014820",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0014820",
"name": "MTDPS14",
"description": ""
},
{
"id": "MONDO:0014820",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0014820",
"name": "OPA1 mitochondrial DNA depletion syndrome",
"description": ""
},
{
"id": "MONDO:0014820",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0014820",
"name": "mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)",
"description": ""
},
{
"id": "MONDO:0014820",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0014820",
"name": "mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type); MTDPS14",
"description": ""
},
{
"id": "MONDO:0014820",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0014820",
"name": "mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type)",
"description": ""
},
{
"id": "MONDO:0014820",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0014820",
"name": "mitochondrial DNA depletion syndrome caused by mutation in OPA1",
"description": ""
},
{
"id": "MIM:616896",
"resource": "MIM",
"url": "https://www.omim.org/entry/616896",
"name": "Mitochondrial DNA depletion syndrome 14, cardioencephalomyopathic type",
"description": "Mitochondrial DNA depletion syndrome 14, cardioencephalomyopathic type"
}
],
"evidence": [
{
"id": "616896",
"database": "MIM",
"url": "https://www.omim.org/entry/616896"
}
]
},
{
"disease_id": "DOID:0111340",
"recommended_name": {
"id": "DOID:0111340",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0111340",
"name": "dominant optic atrophy plus syndrome",
"description": "A syndrome characterized by visual loss and sensorineural hearing loss with onset in childhood and associated with other symptoms including; progressive external ophthalmoplegia, muscle cramps, hyperreflexia, and ataxia that has_material_basis_in heterozygous mutation in the OPA1 gene on chromosome 3q29."
},
"synonyms": [
{
"id": "DOID:0111340",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0111340",
"name": "DOA+",
"description": ""
},
{
"id": "DOID:0111340",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0111340",
"name": "optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy",
"description": ""
},
{
"id": "MONDO:0007429",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007429",
"name": "optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy",
"description": ""
},
{
"id": "MONDO:0007429",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007429",
"name": "optic atrophy plus syndrome",
"description": ""
},
{
"id": "MONDO:0007429",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007429",
"name": "optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy",
"description": ""
},
{
"id": "MONDO:0007429",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007429",
"name": "dominant optic atrophy plus syndrome",
"description": ""
},
{
"id": "MONDO:0007429",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007429",
"name": "optic atrophy 1 and deafness",
"description": ""
},
{
"id": "MIM:125250",
"resource": "MIM",
"url": "https://www.omim.org/entry/125250",
"name": "Dominant optic atrophy plus syndrome",
"description": "Dominant optic atrophy plus syndrome"
}
],
"evidence": [
{
"id": "125250",
"database": "MIM",
"url": "https://www.omim.org/entry/125250"
}
]
},
{
"disease_id": "DOID:0111441",
"recommended_name": {
"id": "DOID:0111441",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0111441",
"name": "optic atrophy 1",
"description": "An optic atrophy characterized by early childhood onset of visual impairment, temporal optic disc pallor, color vision deficits, and centrocecal scotoma of variable density that has_material_basis_in heterozygous mutation in the OPA1 gene on chromosome 3q29."
},
"synonyms": [
{
"id": "DOID:0111441",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0111441",
"name": "OPA1",
"description": ""
},
{
"id": "MONDO:0008134",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008134",
"name": "autosomal dominant optic atrophy, classic form",
"description": "One of the most common forms of hereditary optic neuropathy characterized by progressive bilateral visual loss during the first decade of life, associated with optic disk pallor, visual field and color vision defects."
},
{
"id": "MONDO:0008134",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008134",
"name": "Kjer optic atrophy",
"description": ""
},
{
"id": "MONDO:0008134",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008134",
"name": "autosomal dominant optic atrophy, Kjer type",
"description": ""
},
{
"id": "MONDO:0008134",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008134",
"name": "optic atrophy type 1",
"description": ""
},
{
"id": "MONDO:0008134",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008134",
"name": "Kjer-type optic atrophy",
"description": ""
},
{
"id": "MONDO:0008134",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008134",
"name": "OAK",
"description": ""
},
{
"id": "MONDO:0008134",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008134",
"name": "OPA1",
"description": ""
},
{
"id": "MONDO:0008134",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008134",
"name": "optic atrophy 1",
"description": ""
},
{
"id": "MONDO:0008134",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008134",
"name": "optic atrophy, Kjer type",
"description": ""
},
{
"id": "MONDO:0008134",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008134",
"name": "optic atrophy, juvenile",
"description": ""
},
{
"id": "MIM:165500",
"resource": "MIM",
"url": "https://www.omim.org/entry/165500",
"name": "Optic atrophy 1",
"description": "Optic atrophy 1"
}
],
"evidence": [
{
"id": "165500",
"database": "MIM",
"url": "https://www.omim.org/entry/165500"
}
]
},
{
"disease_id": "DOID:0111580",
"recommended_name": {
"id": "DOID:0111580",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0111580",
"name": "Behr syndrome",
"description": "A nervous system disease characterized by early-onset optic atrophy, ataxia, pyramidal signs, spasticity, and intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in the OPA1 gene on chromosome 3q29."
},
"synonyms": [
{
"id": "DOID:0111580",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0111580",
"name": "Abortive cerebellar ataxia (BEHRS)",
"description": ""
},
{
"id": "DOID:0111580",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0111580",
"name": "BEHRS",
"description": ""
},
{
"id": "DOID:0111580",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0111580",
"name": "optic atrophy in early childhood, associated with ataxia, spasticity, mental retardation, and posterior column sensory loss",
"description": ""
},
{
"id": "DOID:0111580",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0111580",
"name": "optic atrophy, infantile hereditary, Behr complicated form of",
"description": ""
},
{
"id": "MONDO:0008858",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008858",
"name": "Behr syndrome",
"description": "A disorder characterized by early-onset optic atrophy along with neurological features, including ataxia, spasticity, and intellectual disability. Other signs and symptoms may be present and vary from person to person. This condition is caused by mutations in the OPA1 gene. It is inherited in an autosomal recessive manner. Treatment depends on the specific signs and symptoms seen in the patient."
},
{
"id": "MONDO:0008858",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008858",
"name": "Behr syndrome",
"description": ""
},
{
"id": "MONDO:0008858",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008858",
"name": "BEHRS",
"description": ""
},
{
"id": "MONDO:0008858",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008858",
"name": "optic atrophy in early childhood, associated with ataxia, spasticity, intellectual disability, and posterior column sensory loss",
"description": ""
},
{
"id": "MONDO:0008858",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008858",
"name": "optic atrophy in early childhood, associated with ataxia, spasticity, mental retardation, and posterior column sensory loss",
"description": ""
},
{
"id": "MONDO:0008858",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008858",
"name": "optic atrophy, infantile hereditary, Behr complicated form of",
"description": ""
},
{
"id": "MONDO:0008858",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008858",
"name": "optic atrophy, infantile hereditary, with neurologic abnormalities",
"description": ""
},
{
"id": "MIM:210000",
"resource": "MIM",
"url": "https://www.omim.org/entry/210000",
"name": "Behr syndrome",
"description": "Behr syndrome"
}
],
"evidence": [
{
"id": "210000",
"database": "MIM",
"url": "https://www.omim.org/entry/210000"
}
]
},
{
"disease_id": "DOID:5723",
"recommended_name": {
"id": "DOID:5723",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5723",
"name": "optic atrophy",
"description": "An optic nerve disease that is characterized the death of the retinal ganglion cell axons that comprise the optic nerve."
},
"synonyms": [
{
"id": "DOID:5723",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5723",
"name": "atrophy of optic disc",
"description": ""
},
{
"id": "MONDO:0008134",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008134",
"name": "autosomal dominant optic atrophy, classic form",
"description": "One of the most common forms of hereditary optic neuropathy characterized by progressive bilateral visual loss during the first decade of life, associated with optic disk pallor, visual field and color vision defects."
},
{
"id": "MONDO:0008134",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008134",
"name": "Kjer optic atrophy",
"description": ""
},
{
"id": "MONDO:0008134",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008134",
"name": "autosomal dominant optic atrophy, Kjer type",
"description": ""
},
{
"id": "MONDO:0008134",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008134",
"name": "optic atrophy type 1",
"description": ""
},
{
"id": "MONDO:0008134",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008134",
"name": "Kjer-type optic atrophy",
"description": ""
},
{
"id": "MONDO:0008134",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008134",
"name": "OAK",
"description": ""
},
{
"id": "MONDO:0008134",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008134",
"name": "OPA1",
"description": ""
},
{
"id": "MONDO:0008134",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008134",
"name": "optic atrophy 1",
"description": ""
},
{
"id": "MONDO:0008134",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008134",
"name": "optic atrophy, Kjer type",
"description": ""
},
{
"id": "MONDO:0008134",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008134",
"name": "optic atrophy, juvenile",
"description": ""
},
{
"id": "MIM:165500",
"resource": "MIM",
"url": "https://www.omim.org/entry/165500",
"name": "Optic atrophy 1",
"description": "Optic atrophy 1"
}
],
"evidence": [
{
"id": "165500",
"database": "MIM",
"url": "https://www.omim.org/entry/165500"
}
]
}
],
"snv": [
{
"evidence": [
{
"id": "rs1560365123",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1560365123"
},
{
"id": "rs1560365123",
"database": "ENSEMBL",
"url": "https://www.ensembl.org/id/rs1560365123"
}
],
"glycoeffect": [
"n-glyco-sequon-gain",
"o-glyco-site-loss"
],
"start_pos": 328,
"end_pos": 328,
"sequence_org": "K",
"sequence_mut": "N",
"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (KVT->NVT).",
"chr_id": "3",
"chr_pos": "193638065",
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{
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{
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{
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{
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{
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{
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{
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{
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{
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},
{
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},
{
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{
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{
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{
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{
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{
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},
{
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},
{
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},
{
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{
"id": "MONDO:0012244",
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{
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{
"id": "MONDO:0012093",
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},
{
"id": "MONDO:0012093",
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{
"id": "MONDO:0012093",
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{
"id": "MONDO:0012093",
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{
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},
{
"id": "MONDO:0012094",
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},
{
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{
"id": "MONDO:0012094",
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},
{
"id": "MONDO:0012094",
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},
{
"id": "MONDO:0012094",
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},
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{
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},
{
"id": "MONDO:0012758",
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},
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},
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{
"id": "MONDO:0012758",
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},
{
"id": "MONDO:0011270",
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},
{
"id": "MONDO:0011270",
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"name": "prostate cancer, hereditary, 8",
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},
{
"id": "MONDO:0011270",
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{
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},
{
"id": "MONDO:0011270",
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},
{
"id": "MONDO:0011270",
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{
"id": "MONDO:0012300",
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"url": "https://monarchinitiative.org/disease/MONDO:0012300",
"name": "prostate cancer, hereditary, 6",
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},
{
"id": "MONDO:0012300",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012300",
"name": "prostate cancer, hereditary, 6",
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},
{
"id": "MONDO:0012300",
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},
{
"id": "MONDO:0012300",
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"name": "HPC6",
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},
{
"id": "MONDO:0012300",
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"name": "prostate cancer, susceptibility to",
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{
"id": "MONDO:0012620",
"resource": "MONDO",
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},
{
"id": "MONDO:0012620",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012620",
"name": "HPC10",
"description": ""
},
{
"id": "MONDO:0012620",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012620",
"name": "prostate cancer, hereditary, 10",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "familial prostate carcinoma",
"description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma."
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "familial prostate cancer",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "hereditary prostate cancer",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "hereditary prostate carcinoma",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "prostate cancer, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "prostate cancer, somatic",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "prostate cancer, familial",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "prostate cancer, hereditary",
"description": ""
},
{
"id": "MONDO:0012470",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012470",
"name": "prostate cancer, hereditary, 7",
"description": ""
},
{
"id": "MONDO:0012470",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012470",
"name": "HPC7",
"description": ""
},
{
"id": "MONDO:0012470",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012470",
"name": "prostate cancer, hereditary, 7",
"description": ""
},
{
"id": "MONDO:0012470",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012470",
"name": "prostate cancer aggressiveness",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "prostate cancer, hereditary, 1",
"description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene."
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "RNASEL familial prostate cancer",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "familial prostate cancer caused by mutation in RNASEL",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "prostate cancer 1",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "prostate cancer, hereditary, 1",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "prostate cancer, hereditary, type 1",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "HPC1",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "Prca1",
"description": ""
},
{
"id": "MONDO:0012768",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012768",
"name": "prostate cancer, hereditary, 11",
"description": ""
},
{
"id": "MONDO:0012768",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012768",
"name": "HPC11",
"description": ""
},
{
"id": "MONDO:0012768",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012768",
"name": "prostate cancer, hereditary, 11",
"description": ""
},
{
"id": "MONDO:0012769",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012769",
"name": "prostate cancer, hereditary, 14",
"description": ""
},
{
"id": "MONDO:0012769",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012769",
"name": "HPC14",
"description": ""
},
{
"id": "MONDO:0012769",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012769",
"name": "prostate cancer, hereditary, 14",
"description": ""
},
{
"id": "MONDO:0012770",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012770",
"name": "prostate cancer, hereditary, 15",
"description": ""
},
{
"id": "MONDO:0012770",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012770",
"name": "HPC15",
"description": ""
},
{
"id": "MONDO:0012770",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012770",
"name": "prostate cancer, hereditary, 15",
"description": ""
},
{
"id": "MONDO:0010257",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010257",
"name": "prostate cancer, hereditary, X-linked 1",
"description": ""
},
{
"id": "MONDO:0010257",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010257",
"name": "HPCX1",
"description": ""
},
{
"id": "MONDO:0010257",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010257",
"name": "prostate cancer, hereditary, X-linked 1",
"description": ""
},
{
"id": "MONDO:0010257",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010257",
"name": "prostate cancer susceptibility, X-linked",
"description": ""
},
{
"id": "MONDO:0010405",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010405",
"name": "prostate cancer, hereditary, X-linked 2",
"description": ""
},
{
"id": "MONDO:0010405",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010405",
"name": "HPCX2",
"description": ""
},
{
"id": "MONDO:0010405",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010405",
"name": "prostate cancer, hereditary, X-linked 2",
"description": ""
},
{
"id": "MIM:611868",
"resource": "MIM",
"url": "https://www.omim.org/entry/611868",
"name": "Prostate cancer, hereditary, 12",
"description": "Prostate cancer, hereditary, 12"
},
{
"id": "MIM:611928",
"resource": "MIM",
"url": "https://www.omim.org/entry/611928",
"name": "Prostate cancer, hereditary, 13",
"description": "Prostate cancer, hereditary, 13"
},
{
"id": "MIM:176807",
"resource": "MIM",
"url": "https://www.omim.org/entry/176807",
"name": "Prostate cancer",
"description": "Prostate cancer"
},
{
"id": "MIM:601518",
"resource": "MIM",
"url": "https://www.omim.org/entry/601518",
"name": "Prostate cancer, hereditary, 1",
"description": "Prostate cancer, hereditary, 1"
},
{
"id": "MIM:611955",
"resource": "MIM",
"url": "https://www.omim.org/entry/611955",
"name": "Prostate cancer, hereditary, 11",
"description": "Prostate cancer, hereditary, 11"
}
]
}
]
},
{
"significant": "No",
"trend": "up",
"name": "Stomach cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:10534",
"evidence": [
{
"database": "BioXpress",
"id": "O60313",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60313"
}
],
"disease": [
{
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"resource": "Disease Ontology",
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},
"synonyms": [
{
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"name": "gastric cancer",
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},
{
"id": "DOID:10534",
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},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "gastric cancer",
"description": "A primary or metastatic malignant neoplasm involving the stomach."
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "gastric neoplasm",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "Ca lesser curvature - stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "cancer of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "gastric cancer",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "gastric cancer risk after h. pylori infection",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "gastric cancer, somatic",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant gastric neoplasm",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant gastric tumor",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant gastric tumour",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant neoplasm of lesser curve of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant neoplasm of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant neoplasm of the stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant stomach neoplasm",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumor of body of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumor of greater curve of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumor of lesser curve of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumor of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumor of the stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumour of body of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumour of greater curve of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumour of lesser curve of stomach",
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},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumour of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumour of the stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "stomach cancer",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "Ca body - stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "ca greater curvature of stomach",
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},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant neoplasm of body of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "gastric cancer, intestinal",
"description": ""
},
{
"id": "MIM:613659",
"resource": "MIM",
"url": "https://www.omim.org/entry/613659",
"name": "Gastric cancer",
"description": "Gastric cancer"
}
]
}
]
},
{
"significant": "No",
"trend": "down",
"name": "Urinary bladder cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:11054",
"evidence": [
{
"database": "BioXpress",
"id": "O60313",
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],
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{
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"recommended_name": {
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},
"synonyms": [
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},
{
"id": "DOID:11054",
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"name": "tumor of the bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "urinary bladder cancer",
"description": "A primary or metastatic malignant neoplasm involving the bladder."
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
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"name": "tumor of the bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "tumour of the bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "bladder cancer, somatic",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "cancer of urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant bladder neoplasm",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant bladder tumor",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant bladder tumour",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant neoplasm of bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant neoplasm of the bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant neoplasm of the urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant neoplasm of urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant neoplasm, bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant neoplasm, urinary bladder",
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},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumor of bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumor of the bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumor of the urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
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"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumor of urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumor, urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumour of bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumour of the bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumour of the urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumour of urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant urinary bladder neoplasm",
"description": ""
},
{
"id": "MONDO:0001187",
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"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant urinary bladder tumor",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant urinary bladder tumour",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "urinary bladder cancer",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "urinary bladder malignant neoplasm",
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},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "urinary bladder malignant tumor",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "urinary bladder malignant tumour",
"description": ""
},
{
"id": "MIM:109800",
"resource": "MIM",
"url": "https://www.omim.org/entry/109800",
"name": "Bladder cancer",
"description": "Bladder cancer"
}
]
}
]
},
{
"significant": "No",
"trend": "up",
"name": "Head and neck cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:11934",
"evidence": [
{
"database": "BioXpress",
"id": "O60313",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60313"
}
],
"disease": [
{
"disease_id": "DOID:11934",
"recommended_name": {
"id": "DOID:11934",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11934",
"name": "head and neck cancer",
"description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx."
},
"synonyms": [
{
"id": "DOID:11934",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11934",
"name": "head and neck neoplasm",
"description": ""
},
{
"id": "DOID:11934",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11934",
"name": "head and neck tumours",
"description": ""
},
{
"id": "DOID:11934",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11934",
"name": "head/neck neoplasm",
"description": ""
},
{
"id": "DOID:11934",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11934",
"name": "tumor of head and neck",
"description": ""
}
]
}
]
},
{
"significant": "Yes",
"trend": "up",
"name": "Lung cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:1324",
"evidence": [
{
"database": "BioXpress",
"id": "O60313",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60313"
}
],
"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": "No",
"trend": "up",
"name": "Breast cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:1612",
"evidence": [
{
"database": "BioXpress",
"id": "O60313",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60313"
}
],
"disease": [
{
"disease_id": "DOID:1612",
"recommended_name": {
"id": "DOID:1612",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1612",
"name": "breast cancer",
"description": "A thoracic cancer that originates in the mammary gland."
},
"synonyms": [
{
"id": "DOID:1612",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1612",
"name": "breast tumor",
"description": ""
},
{
"id": "DOID:1612",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1612",
"name": "malignant neoplasm of breast",
"description": ""
},
{
"id": "DOID:1612",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1612",
"name": "malignant tumor of the breast",
"description": ""
},
{
"id": "DOID:1612",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1612",
"name": "mammary cancer",
"description": ""
},
{
"id": "DOID:1612",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1612",
"name": "mammary tumor",
"description": ""
},
{
"id": "DOID:1612",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1612",
"name": "primary breast cancer",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "hereditary breast carcinoma",
"description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma."
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer susceptibility, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, lobular, somatic",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, protection against, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, somatic",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "familial breast cancer",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "familial breast carcinoma",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "familial cancer of breast",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "familial cancer of the breast",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "hereditary breast cancer",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "hereditary breast carcinoma",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, familial",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, familial Male",
"description": ""
},
{
"id": "MIM:114480",
"resource": "MIM",
"url": "https://www.omim.org/entry/114480",
"name": "Breast cancer",
"description": "Breast cancer"
}
]
}
]
},
{
"significant": "Yes",
"trend": "down",
"name": "Thyroid cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:1781",
"evidence": [
{
"database": "BioXpress",
"id": "O60313",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60313"
}
],
"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": "down",
"name": "Kidney cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:263",
"evidence": [
{
"database": "BioXpress",
"id": "O60313",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60313"
}
],
"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": "O60313",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60313"
}
],
"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": "No",
"trend": "up",
"name": "Uterine cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:363",
"evidence": [
{
"database": "BioXpress",
"id": "O60313",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60313"
}
],
"disease": [
{
"disease_id": "DOID:363",
"recommended_name": {
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "uterine cancer",
"description": "A female reproductive organ cancer that is located_in the uterus."
},
"synonyms": [
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "CA - cancer of uterus",
"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "Tumour of uterus",
"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "malignant neoplasm of uterus",
"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "malignant uterine tumor",
"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "neoplasm of uterus",
"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "uterine tumor",
"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "uterus neoplasm",
"description": ""
}
]
}
]
},
{
"significant": "No",
"trend": "up",
"name": "Esophageal cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:5041",
"evidence": [
{
"database": "BioXpress",
"id": "O60313",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60313"
}
],
"disease": [
{
"disease_id": "DOID:5041",
"recommended_name": {
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "esophageal cancer",
"description": "A gastrointestinal system cancer that is located_in the esophagus."
},
"synonyms": [
{
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"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "Ca lower third oesophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "Ca middle third oesophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "esophagus cancer",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant neoplasm of distal third of esophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant neoplasm of lower third of oesophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant neoplasm of middle third of oesophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant neoplasm of proximal third of esophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant neoplasm of upper third esophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant tumor of Distal Third of esophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant tumor of Proximal Third of esophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant tumor of abdominal esophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant tumor of the middle Third of the esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "esophageal cancer",
"description": "A primary or metastatic malignant neoplasm involving the esophagus."
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "cancer of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "cancer of oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "esophageal cancer",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "esophageal cancer, somatic",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "esophageal carcinoma, somatic",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "esophageal squamous cell carcinoma, somatic",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "esophagus cancer",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant esophageal neoplasm",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant esophageal tumor",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
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"name": "malignant esophageal tumour",
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},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant esophagus neoplasm",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant esophagus tumor",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of the esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of the oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant oesophagus neoplasm",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant oesophagus tumour",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumor of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
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},
{
"id": "MONDO:0007576",
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"name": "malignant tumour of oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
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"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumour of the oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "oesophagus cancer",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "Ca lower third esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "Ca lower third oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "Ca middle third esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "Ca middle third oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of distal third of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of distal third of oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of lower third of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of lower third of oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of middle third of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of middle third of oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of proximal third of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of proximal third of oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of upper third esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of upper third oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumor of abdominal esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumor of distal third of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumor of proximal third of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumor of the middle third of the esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumour of abdominal oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumour of distal third of oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
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"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumour of proximal third of oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumour of the middle third of the oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "Aerodigestive tract cancer, susceptibility to",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "Escc, susceptibility to",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "esophageal squamous cell carcinoma, susceptibility to",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "gastric cardia adenocarcinoma, susceptibility to",
"description": ""
},
{
"id": "MIM:133239",
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"name": "Esophageal cancer",
"description": "Esophageal cancer"
}
]
}
]
},
{
"significant": "No",
"trend": "down",
"name": "Colorectal cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:9256",
"evidence": [
{
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"id": "O60313",
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}
],
"disease": [
{
"disease_id": "DOID:9256",
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},
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},
{
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},
{
"id": "MONDO:0005575",
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},
{
"id": "MONDO:0005575",
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},
{
"id": "MONDO:0005575",
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},
{
"id": "MONDO:0005575",
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"name": "colon cancer, advanced, somatic",
"description": ""
},
{
"id": "MONDO:0005575",
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},
{
"id": "MONDO:0005575",
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"url": "https://monarchinitiative.org/disease/MONDO:0005575",
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},
{
"id": "MONDO:0005575",
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"name": "colorectal cancer with chromosomal instability, somatic",
"description": ""
},
{
"id": "MONDO:0005575",
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},
{
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},
{
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},
{
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},
{
"id": "MONDO:0005575",
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},
{
"id": "MONDO:0005575",
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},
{
"id": "MONDO:0005575",
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"name": "malignant colorectal tumour",
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},
{
"id": "MONDO:0005575",
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},
{
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},
{
"id": "MONDO:0005575",
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},
{
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},
{
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},
{
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},
{
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},
{
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},
{
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},
{
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},
{
"id": "MONDO:0005575",
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},
{
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},
{
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"url": "",
"sequence": {
"sequence": "MIPDLSEYKWIVPDIVWEIDEYIDFEKIRKALPSSEDLVKLAPDFDKIVESLSLLKDFFTSGHKLVSEVIGASDLLLLLGSPEETAFRATDRGSESDKHFRKVSDKEKIDQLQEELLHTQLKYQRILERLEKENKELRKLVLQKDDKGIHHRKLKKSLIDMYSEVLDVLSDYDASYNTQDHLPRVVVVGDQSAGKTSVLEMIAQARIFPRGSGEMMTRSPVKVTLSEGPHHVALFKDSSREFDLTKEEDLAALRHEIELRMRKNVKEGCTVSPETISLNVKGPGLQRMVLVDLPGVINTVTSGMAPDTKETIFSISKAYMQNPNAIILCIQDGSVDAERSIVTDLVSQMDPHGRRTIFVLTKVDLAEKNVASPSRIQQIIEGKLFPMKALGYFAVVTGKGNSSESIEAIREYEEEFFQNSKLLKTSMLKAHQVTTRNLSLAVSDCFWKMVRESVEQQADSFKATRFNLETEWKNNYPRLRELDRNELFEKAKNEILDEVISLSQVTPKHWEEILQQSLWERVSTHVIENIYLPAAQTMNSGTFNTTVDIKLKQWTDKQLPNKAVEVAWETLQEEFSRFMTEPKGKEHDDIFDKLKEAVKEESIKRHKWNDFAEDSLRVIQHNALEDRSISDKQQWDAAIYFMEEALQARLKDTENAIENMVGPDWKKRWLYWKNRTQEQCVHNETKNELEKMLKCNEEHPAYLASDEITTVRKNLESRGVEVDPSLIKDTWHQVYRRHFLKTALNHCNLCRRGFYYYQRHFVDSELECNDVVLFWRIQRMLAITANTLRQQLTNTEVRRLEKNVKEVLEDFAEDGEKKIKLLTGKRVQLAEDLKKVREIQEKLDAFIEALHQEK",
"length": 854,
"header": "tr|A0A2R8Y3X5-1|A0A2R8Y3X5_HUMAN Computationally mapped isoform of Dynamin-like 120 kDa protein, mitochondrial OS=Homo sapiens OX=9606 GN=OPA1 PE=1 SV=1 CANONICAL=O60313-1"
},
"locus": {
"chromosome": "3",
"start_pos": 193692124,
"end_pos": 193615695,
"strand": "-",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000643329.1",
"url": "https://www.ensembl.org/id/ENST00000643329.1"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000493673.1",
"url": "https://www.ensembl.org/id/ENSP00000493673.1"
}
]
}
},
{
"isoform_ac": "A0A2R8Y4G4-1",
"url": "",
"sequence": {
"sequence": "XAKKTFDQWKDMIPDLSEYKWIVPDIVWEIDEYIDFEKIRKALPSSEDLVKLAPDFDKIVESLSLLKDFFTSGSPEETAFRATDRGSESDKHFRKVSDKEKIDQLQEELLHTQLKYQRILERLEKENKELRKLVLQKDDKGIHHRKLKKSLIDMYSEVLDVLSDYDASYNTQDHLPRVVVVGDQSAGKTSVLEMIAQARIFPRGSGEMMTRSPVKVTLSEGPHHVALFKDSSREFDLTKEEDLAALRHEIELRMRKNVKEGCTVSPETISLNVKGPGLQRMVLVDLPGVINTVTSGMAPDTKETIFSISKAYMQNPNAIILCIQDGSVDAERSIVTDLVSQMDPHGRRTIFVLTKVDLAEKNVASPSRGTALKALKL",
"length": 377,
"header": "tr|A0A2R8Y4G4-1|A0A2R8Y4G4_HUMAN Computationally mapped isoform of OPA1 mitochondrial dynamin like GTPase OS=Homo sapiens OX=9606 GN=OPA1 PE=1 SV=1 CANONICAL=O60313-1"
},
"locus": {
"chromosome": "3",
"start_pos": 193645755,
"end_pos": 193615031,
"strand": "-",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000644629.1",
"url": "https://www.ensembl.org/id/ENST00000644629.1"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000494015.1",
"url": "https://www.ensembl.org/id/ENSP00000494015.1"
}
]
}
},
{
"isoform_ac": "A0A2R8Y4Q3-1",
"url": "",
"sequence": {
"sequence": "MIPDLSEYKWIVPDIVWEIDEYIDFEKIRKALPSSEDLVKLAPDFDKIVESLSLLKDFFTSGSPEETAFRATDRGSESDKHFRKVSDKEKIDQLQEELLHTQLKYQRILERLEKENKELRKLVLQKDDKGIHHRKLKKSLIDMYSEVLDVLSDYDASYNTQDHLPRVVVVGDQSAGKTSVLEMIAQARIFPRGSGEMMTRSPVKVTLSEGPHHVALFKDSSREFDLTKEEDLAALRHEIELRMRKNVKEGCTVSPETISLNVKGPGLQRMVLVDLPGVINTVTSGMAPDTKETIFSISKAYMQNPNAIILCIQDGSVDAERSIVTDLVSQMDPHGRRTIFVLTKVDLAEKNVASPSRIQQIIEGKLFPMKALGYFAVVTGKGNSSESIEAIREYEEEFFQNSKLLKHGGSHL",
"length": 412,
"header": "tr|A0A2R8Y4Q3-1|A0A2R8Y4Q3_HUMAN Computationally mapped isoform of OPA1 mitochondrial dynamin like GTPase OS=Homo sapiens OX=9606 GN=OPA1 PE=1 SV=1 CANONICAL=O60313-1"
},
"locus": {
"chromosome": "3",
"start_pos": 193646503,
"end_pos": 193615695,
"strand": "-",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000644841.1",
"url": "https://www.ensembl.org/id/ENST00000644841.1"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000493988.1",
"url": "https://www.ensembl.org/id/ENSP00000493988.1"
}
]
}
},
{
"isoform_ac": "A0A2R8Y514-1",
"url": "",
"sequence": {
"sequence": "MWRLRRAAVACCTLTVEWSRSKWISKNIKNHLTGTGCGL",
"length": 39,
"header": "tr|A0A2R8Y514-1|OPA1_HUMAN Computationally mapped isoform of Dynamin-like 120 kDa protein, mitochondrial OS=Homo sapiens OX=9606 GN=OPA1 PE=1 SV=1 CANONICAL=O60313-1"
},
"locus": {
"chromosome": "3",
"start_pos": 193596884,
"end_pos": 193593378,
"strand": "-",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000643737.1",
"url": "https://www.ensembl.org/id/ENST00000643737.1"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000494210.1",
"url": "https://www.ensembl.org/id/ENSP00000494210.1"
}
]
}
},
{
"isoform_ac": "A0A2R8Y5E2-1",
"url": "",
"sequence": {
"sequence": "XKGSLPLQKLHLVSRSIYHSHHPTLKLQRPQLRTSFQQFSSLTNLPLRKLKFSPIKYGYQPRRNFWPARLATRLLKLRYLILGSAVGGGYTAKKTFDQWKDMIPDLSEYKWIVPDIVWEIDEYIDFEKIRKALPSSEDLVKLAPDFDKIVESLSLLKDFFTSGYQSCSLK",
"length": 170,
"header": "tr|A0A2R8Y5E2-1|A0A2R8Y5E2_HUMAN Computationally mapped isoform of OPA1 mitochondrial dynamin like GTPase OS=Homo sapiens OX=9606 GN=OPA1 PE=1 SV=1 CANONICAL=O60313-1"
},
"locus": {
"chromosome": "3",
"start_pos": 193618727,
"end_pos": 193614762,
"strand": "-",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000646699.1",
"url": "https://www.ensembl.org/id/ENST00000646699.1"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000493913.1",
"url": "https://www.ensembl.org/id/ENSP00000493913.1"
}
]
}
},
{
"isoform_ac": "A0A2R8Y5G3-1",
"url": "",
"sequence": {
"sequence": "MWRLRRAAVACEVCQSLVKHSSGIKGSLPLQKLHLVSRSIYHSHHPTLKLQRPQLRTSFQQFSSLTNLPLRKLKFSPIKYGYQPRRNFWPARLATRLLKLRYLILGSAVGGGYTAKKTFDQWKDMIPDLSEYKWIVPDIVWEIDEYIDFEKIRKALPSSEDLVKLAPDFDKIVESLSLLKDFFTSGSPEETAFRATDRGSESDKHFRKL",
"length": 209,
"header": "tr|A0A2R8Y5G3-1|A0A2R8Y5G3_HUMAN Computationally mapped isoform of OPA1 mitochondrial dynamin like GTPase OS=Homo sapiens OX=9606 GN=OPA1 PE=1 SV=1 CANONICAL=O60313-1"
},
"locus": {
"chromosome": "3",
"start_pos": 193628511,
"end_pos": 193593378,
"strand": "-",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000646085.1",
"url": "https://www.ensembl.org/id/ENST00000646085.1"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000494509.1",
"url": "https://www.ensembl.org/id/ENSP00000494509.1"
}
]
}
},
{
"isoform_ac": "A0A2R8YD53-1",
"url": "",
"sequence": {
"sequence": "MWRLRRAAVACEVCQSLVKHSSGIKGSLPLQKLHLVSRSIYHSHHPTLKLQRPQLRTSFQQFSSLTNLPLRKLKFSPIKYGYQPRRNFWPARLATRLLKLRYLILGSAVGGGYTAKKTFDQWKDMIPDLSEYKWIVPDIVWEIDEYIDFEKIRKALPSSEDLVKLAPDFDKIVESLSLLKDFFTSGSPEETAFRATDRGSESDKHFRKVSDKEKIDQLQEELLHTQLKYQRILERLEKENKELRKLVLQKDDKGIHHRKLKKSLIDMYSEVLDVLSDYDASYNTQDHLPRVVVVGDQSAGKTSVLEMIAQARIFPRGSGEMMTRSPVKVTLSEGPHHVALFKDSSREFDLTKEEDLAALRHEIELRMRKNVKEGCTVSPETISLNVKGPGLQRMVLVDLPGVINTVTSGMAPDTKETIFSISKAYMQNPNAIILCIQDGSVDAERSIVTDLVSQMDPHGRRTIFVLTKVDLAEKNVASPSRIQQIIEGKLFPMKALGYFAVVTGKGNSSESIEAIREYEEEFFQNSKLLKTSMLKAHQVTTRNLSLAVSDCFWKMVRESVEQQADSFKE",
"length": 569,
"header": "tr|A0A2R8YD53-1|OPA1_HUMAN Computationally mapped isoform of Dynamin-like 120 kDa protein, mitochondrial OS=Homo sapiens OX=9606 GN=OPA1 PE=1 SV=1 CANONICAL=O60313-1"
},
"locus": {
"chromosome": "3",
"start_pos": 193648796,
"end_pos": 193593378,
"strand": "-",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000642593.1",
"url": "https://www.ensembl.org/id/ENST00000642593.1"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000494273.1",
"url": "https://www.ensembl.org/id/ENSP00000494273.1"
}
]
}
},
{
"isoform_ac": "A0A2R8YDM2-1",
"url": "",
"sequence": {
"sequence": "MWRLRRAAVACEVCQSLVKHSSGIKGSLPLQKLHLVSRSIYHSHHPTLKLQRPQLRTSFQQFSSLTNLPLRKLKFSPIKYGYQPRRNFWPARLATRLLKLRYLILGSAVGGGYTAKKTFDQWKDMIPDLSEYKWIVPDIVWEIDEYIDFEKIRKALPSSEDLVKLAPDFDKIVESLSLLKDFFTSGSPEETAFRATDRGSESDKHFRKVSDKEKIDQLQEELLHTQSKIWKLKYQRILERLEKENKELRKLVLQKDDKGIHHRKLKKSLIDMYSEVLDVLSDYDASYNTQDHLPRVVVVGDQSAGKTSVLEMIAQARIFPRGSGEMMTRSPVKVTLSEGPHHVALFKDSSREFDLTKEEDLAALRHEIELRMRKNVKEGCTVSPETISLNVKGPGLQRMVLVDLPGVINTVTSGMAPDTKETIFSISKAYMQNPNAIILCIQDGSVDAERSIVTDLVSQMDPHGRRTIFVLTKVDLAEKNVASPSRIQQIIEGKLFPMKALGYFAVVTGKGNSSESIEAIREYEEEFFQNSKLLKTSMLKAHQVTTRNLSLAVSDCFWKMVRESVEQQADSFKATRFNLETEWKNNYPRLRELDRNELFEKAKNEILDEVISLSQVTPKHWEEILQQSLWERVSTHVIENIYLPAAQTMNSGTFNTTVDIKLKQWTDKQLPNKAVEVAWETLQEEFSRFMTEPKGKEHDDIFDKLKEAVKEESIKRHKWNDFAEDSLRVIQHNALEDRSISDKQQWDAAIYFMEEALQARLKDTENAIENMVGPDWKKRWLYWKNRTQEQCVHNETKNELEKMLKCNEEHPAYLASDEITTVRKNLESRGVEVDPSLIKDTWHQVYRRHFLKTALNHCNLCRRGFYYYQRHFVDSELECNDVVLFWRIQRMLAITANTLRQQLTNTEVRRLEKNVKEVLEDFAEDGEKKIKLLTGKRVQLAEDLKKVREIQEKLDAFIEALHQEK",
"length": 965,
"header": "tr|A0A2R8YDM2-1|A0A2R8YDM2_HUMAN Computationally mapped isoform of Dynamin-like 120 kDa protein, mitochondrial OS=Homo sapiens OX=9606 GN=OPA1 PE=1 SV=1 CANONICAL=O60313-1"
},
"locus": {
"chromosome": "3",
"start_pos": 193692124,
"end_pos": 193593378,
"strand": "-",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000645553.1",
"url": "https://www.ensembl.org/id/ENST00000645553.1"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000494725.1",
"url": "https://www.ensembl.org/id/ENSP00000494725.1"
}
]
}
},
{
"isoform_ac": "A0A2R8YE54-1",
"url": "",
"sequence": {
"sequence": "MWRLRRAAVACEVCQSLVKHSSGIKGSLPLQKLHLVSRSIYHSHHPTLKLQRPQLRTSFQQFSSLTNLPLRKLKFSPIKYGYQPRRNFWPARLATRLLKLRYLILGSAVGGGYTAKKTFDQWKDMIPDLSEYKWIVPDIVWEIDEYIDFEKIRKALPSSEDLVKLAPDFDKIVESLSLLKDFFTSGHKLVSEVIGASDLLLLLGSPEETAFRATDRGSESDKHFRKGLLGELILLQQQIQEHEEEARRAAGQYSTSYAQQKRKVSDKEKIDQLQEELLHTQLKYQRILERLEKENKELRKLVLQKDDKGIHHRKLKKSLIDMYSEVLDVLSDYDASYNTQDHLPRVVVVGDQSAGKTSVLEMIAQARIFPRGSGEMMTRSPVKVTLSEGPHHVALFKDSSREFDLTKEEDLAALRHEIELRMRKNVKEGCTVSPETISLNVKGPGLQRMVLVDLPGVINTVTSGMAPDTKETIFSISKAYMQNPNAIILCIQVSFFYFFQMDLWMLNAVLLQTWSVKWTLMEGEPYSF",
"length": 528,
"header": "tr|A0A2R8YE54-1|A0A2R8YE54_HUMAN Computationally mapped isoform of OPA1 mitochondrial dynamin like GTPase OS=Homo sapiens OX=9606 GN=OPA1 PE=1 SV=1 CANONICAL=O60313-1"
},
"locus": {
"chromosome": "3",
"start_pos": 193644058,
"end_pos": 193593378,
"strand": "-",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000646277.1",
"url": "https://www.ensembl.org/id/ENST00000646277.1"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000495289.1",
"url": "https://www.ensembl.org/id/ENSP00000495289.1"
}
]
}
},
{
"isoform_ac": "A0A2R8YE78-1",
"url": "",
"sequence": {
"sequence": "MWRLRRAAVACEVCQSLVKHSSGIKGSLPLQKLHLVSRSIYHSHHPTLKLQRPQLRTSFQQFSSLTNLPLRKLKFSPIKYGYQPRRNFWPARLATRLLKLRYLILGSAVGGGYTAKKTFDQWKDMIPDLSEYKWIVPDIVWEIDEYIDFEKIRKALPSSEDLVKLAPDFDKIVESLSLLKDFFTSGSPEETAFRATDRGSESDKHFRKVSDKEKIDQLQEELLHTQLKYQRILERLEKENKELRKLVLQKDDKGIHHRKLKKSLIDMYSEVLDVLSDYDASYNTQDHLPRVVVVGDQSAGKTSVLEMIAQARIFPRGSGEMMTRSPVKVTLSEGPHHVALFKDSSREFDLTKEEDLAALRHEIELRMRKNVKEGCTVSPETISLNVKGPGLQRMVLVDLPGVINTVTSGMAPDTKETIFSISKAYMQNPNAIILCIQDGSVDAERSIVTDLVSQMDPHGRRTIFVLTKVDLAEKNVASPSRIQQIIEGKLFPMKALGYFAVVTGKGNSSESIEAIREYEEEFFQNSKLLKTSMLKAHQVTTRNLSLAVSDCFWKMVRESVEQQADSFKATRFNLETEWKNNYPRLRELDRNELFEKAKNEILDEVISLSQVTPKHWEEILQQSLWERVSTHVIENIYLPAAQTMNSGTFNTTVDIKLKQWTDKQLPNKAVEVAWETLQEEFSRFMTEPKGKEHDDIFDKLKEAVKEESIKRHKWNDFAEDSLRVIQHNALEDRSISDKQQWDAAIYFMEEALQARLKDTENAIENMVGPDWKKRWLYWKNRTQEQCVHNETKNELEKMLKCNEEHPAYLASDEITTVRKNLESRGVEVDPSLIKDTWHQVYRRHFLKTALNHCNLCRRGFYYYQRHFVDSELECNDVVLFWRIQRMLAITANTLRQQLTNTEVRRLEKNVKEVLEDFAEDGEKKIKLLTGKRVQLAEDLTMIPARLYENQMKRQIWKYIVDTS",
"length": 963,
"header": "tr|A0A2R8YE78-1|A0A2R8YE78_HUMAN Computationally mapped isoform of Dynamin-like 120 kDa protein, mitochondrial OS=Homo sapiens OX=9606 GN=OPA1 PE=1 SV=1 CANONICAL=O60313-1"
},
"locus": {
"chromosome": "3",
"start_pos": 193689139,
"end_pos": 193593378,
"strand": "-",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000644595.1",
"url": "https://www.ensembl.org/id/ENST00000644595.1"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000494121.1",
"url": "https://www.ensembl.org/id/ENSP00000494121.1"
}
]
}
},
{
"isoform_ac": "A0A2R8YFD1-1",
"url": "",
"sequence": {
"sequence": "XFPRGSGEMMTRSPVKVTLSEGPHHVALFKDSSREFDLTKEEDTISLNVKGPGLQRMVLVDLPGVINTVTSGMAPDTKETIFSISKAYMQNPNAIILCIQDGSVDAERSIVTDLVSQMDPHGRRTIFVLTKVDLAEKNVASPSRIQQIIEGKLFPMKALGYFAVVTGKGNSSESIEAIREYEEEFFQNSKLLKTSMLKAHQVTTRNLSLAVSDCFWKMVRESVEQQADSFKATRFNLETEWKNNYPRLRELDRNELFEKAKNEILDEVISLSQVTPKHWEEILQQSLWERVSTHVIENIYLPAAQTMNSGTFNTTVDIKLKQWTDKQLPNKAVEVAWETLQEEFSRFMTEPKGKEHDDIFDKLKEAVKEESIKRHKWNDFAEDSLRVIQHNALEDRSISDKQQWDAAIYFMEEALQARLKDTENAIENMVGPDWKKRWLYWKNRTQEQCVHNETKNELEKMLKCNEEHPAYLASDEITTVRKNLESRGVEVDPSLIKDTWHQVYRRHFLKTALNHCNLCRRGFYYYQRHFVDSELECNDVVLFWRIQRMLAITANTLRQQLTNTEVRRLEKNVKEVLEDFAEDGEKKIKLLTGKRVQLAEDLKKVREIQEKLDAFIEALHQEK",
"length": 623,
"header": "tr|A0A2R8YFD1-1|A0A2R8YFD1_HUMAN Computationally mapped isoform of Dynamin-like 120 kDa protein, mitochondrial OS=Homo sapiens OX=9606 GN=OPA1 PE=1 SV=1 CANONICAL=O60313-1"
},
"locus": {
"chromosome": "3",
"start_pos": 193692125,
"end_pos": 193638019,
"strand": "-",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000646544.1",
"url": "https://www.ensembl.org/id/ENST00000646544.1"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000495028.1",
"url": "https://www.ensembl.org/id/ENSP00000495028.1"
}
]
}
},
{
"isoform_ac": "A0A2R8YGE5-1",
"url": "",
"sequence": {
"sequence": "XEVCQSLVKHSSGIKGSLPLQKLHLVSRSIYHSHHPTLKLQRPQLRTSFQQFSSLTNLPLRKLKFSPIKYGYQPRRNFWPARLATRLLKLRYLILGSAVGGGYTAKKTFDQWKDMIPDLSEYKWIVPDIVWEIDEYIDFEKIRKALPSSEDLVKLAPDFDKIVESLSLLKDFFTSGSPEETAFRATDRGSESDKHFRKVSDKEKIDQLQEELLHTQLKYQRILERLEKENKELRKLVLQKDDKGIHHRKLKKSLIDMYSEVLDVLSDYDASYNTQDHLPRVVVVGDQSAGKTSVLEMIAQARIFPRGSGEMMTRSPVKVTLSEGPHHVALFKDSSREFDLTKEEDLAALRHEIELRMRKNVKEGCTVSPETISLNVKGPGLQRMVLVDLPGVINTVTSGMAPDTKETIFSISKAYMQNPNAIILCIQDGSVDAERSIVTDLVSQMDPHGRRTIFVLTKVDLAEKNVASPSRIQQIIEGKLFPMKALGYFAVVTGKGNSSESIEAIREYEEEFFQNSKLLKTSMLKAHQVTTRNLSLAVSDCFWKMVRESVEQQADSFKATRFNLETEWKNNYPRLRELDRNELFEKAKNEILDEVISLSQVTPKHWEEILQQSLWERVSTHVIENIYLPAAQTMNSGTFNTTVDIKLKQWTDKQLPNKAVEVRI",
"length": 664,
"header": "tr|A0A2R8YGE5-1|OPA1_HUMAN Computationally mapped isoform of Dynamin-like 120 kDa protein, mitochondrial OS=Homo sapiens OX=9606 GN=OPA1 PE=1 SV=1 CANONICAL=O60313-1"
},
"locus": {
"chromosome": "3",
"start_pos": 193655037,
"end_pos": 193614722,
"strand": "-",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000644959.1",
"url": "https://www.ensembl.org/id/ENST00000644959.1"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000495943.1",
"url": "https://www.ensembl.org/id/ENSP00000495943.1"
}
]
}
},
{
"isoform_ac": "C9JMB8-1",
"url": "",
"sequence": {
"sequence": "MWRLRRAAVACEVCQSLVKHSSGIKGSLPLQKLHLVSRSIYHSHHPTLKLQRPQLRTSFQQFSSLTNLPLRKLKFSPIKYGYQPRRNFWPARLATRLLKLRYLILGSAVGGGYTAKKTFDQWKDMIPDLSEYKWIVPDIVWEIDEYIDFEKIRKALPSSEDLVKLAPDFDKIVESLSLLKDFFTSGSPEETAFRATDRGSESDKHFRKVSDKEKIDQLQEELLHTQLKYQRILERLEKENKELRKLVLQKDDKGIHHRKLKKSLIDMYSEVLDVLSDYDASYNTQDHLPRVVVVGDQSAGKTSVLEMIAQARIFPRGSGEMMTRSPVKVTLSEGPHHVALFKDSSREFDLTKEEDLAALRHEIELRMRKNVKEGCTVSPETISLNVKGPGLQRMVLVDLPGVINTVTSGMAPDTKETIFSISKAYMQNPNAIILCIQDGSVDAERSIVTDLVSQMDPHGRRTIFVLTKVDLAEKNVASPSRIQQIIEGKLFPMKALGYFAVVTGKGNSSESIEAIREYEEEFFQNSKLLKTSMLKAHQVTTRNLSLAVSDCFWKMVRESVEQQADSFKATRFNLETEWKNNYPRLRELDRNELFEKAKNEILDEVISLSQVTPKHWEEILQQSLWERVSTHVIENIYLPAAQTMNSGTFNTTVDIKLKQWTDKQLPNKAVEVAWETLQEEFSRFMTEPKGKEHDDIFDKLKEAVKEESIKRHKWNDFAEDSLRVIQHNALEDRSISDKQQWDAAIYFMEEALQARLKDTENAIENMVGPDWKKRWLYWKNRTQEQCVHNETKNELEKMLKCNEEHPAYLASDEITTVRKNLESRGVEVDPSLIKDTWHQVYRRHFLKTALNHCNLCRRGFYYYQRHFVDSELECNDVVLFWRIQRMLAITANTLRQQLTNTEVRRLEKNVKEVLEDFAEDGEKKIKLLTGKRVQLAEDLKMFFFPSSDSTLHTRPPHGAAPSIDTSFTLSGL",
"length": 972,
"header": "tr|C9JMB8-1|OPA1_HUMAN Computationally mapped isoform of Dynamin-like 120 kDa protein, mitochondrial OS=Homo sapiens OX=9606 GN=OPA1 PE=1 SV=2 CANONICAL=O60313-1"
},
"locus": {
"chromosome": "3",
"start_pos": 193668412,
"end_pos": 193593378,
"strand": "-",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000392436.7",
"url": "https://www.ensembl.org/id/ENST00000392436.7"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000376231.3",
"url": "https://www.ensembl.org/id/ENSP00000376231.3"
}
]
}
},
{
"isoform_ac": "C9JY58-1",
"url": "",
"sequence": {
"sequence": "MIPDLSEYKWIVPDIVWEIDEYIDFEKIRKALPSSEDLVKLAPDFDKIVESLSLLKDFFTSGSPEETAFRATDRGSESDKHFRK",
"length": 84,
"header": "tr|C9JY58-1|C9JY58_HUMAN Computationally mapped isoform of OPA1 mitochondrial dynamin like GTPase OS=Homo sapiens OX=9606 GN=OPA1 PE=1 SV=1 CANONICAL=O60313-1"
},
"locus": {
"chromosome": "3",
"start_pos": 193618936,
"end_pos": 193615695,
"strand": "-",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000419435.5",
"url": "https://www.ensembl.org/id/ENST00000419435.5"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000399877.1",
"url": "https://www.ensembl.org/id/ENSP00000399877.1"
}
]
}
},
{
"isoform_ac": "E5KLJ9-1",
"url": "",
"sequence": {
"sequence": "MWRLRRAAVACEVCQSLVKHSSGIKGSLPLQKLHLVSRSIYHSHHPTLKLQRPQLRTSFQQFSSLTNLPLRKLKFSPIKYGYQPRRNFWPARLATRLLKLRYLILGSAVGGGYTAKKTFDQWKDMIPDLSEYKWIVPDIVWEIDEYIDFGHKLVSEVIGASDLLLLLGSPEETAFRATDRGSESDKHFRKGLLGELILLQQQIQEHEEEARRAAGQYSTSYAQQKRKVSDKEKIDQLQEELLHTQLKYQRILERLEKENKELRKLVLQKDDKGIHHRKLKKSLIDMYSEVLDVLSDYDASYNTQDHLPRVVVVGDQSAGKTSVLEMIAQARIFPRGSGEMMTRSPVKVTLSEGPHHVALFKDSSREFDLTKEEDLAALRHEIELRMRKNVKEGCTVSPETISLNVKGPGLQRMVLVDLPGVINTVTSGMAPDTKETIFSISKAYMQNPNAIILCIQDGSVDAERSIVTDLVSQMDPHGRRTIFVLTKVDLAEKNVASPSRIQQIIEGKLFPMKALGYFAVVTGKGNSSESIEAIREYEEEFFQNSKLLKTSMLKAHQVTTRNLSLAVSDCFWKMVRESVEQQADSFKATRFNLETEWKNNYPRLRELDRNELFEKAKNEILDEVISLSQVTPKHWEEILQQSLWERVSTHVIENIYLPAAQTMNSGTFNTTVDIKLKQWTDKQLPNKAVEVAWETLQEEFSRFMTEPKGKEHDDIFDKLKEAVKEESIKRHKWNDFAEDSLRVIQHNALEDRSISDKQQWDAAIYFMEEALQARLKDTENAIENMVGPDWKKRWLYWKNRTQEQCVHNETKNELEKMLKCNEEHPAYLASDEITTVRKNLESRGVEVDPSLIKDTWHQVYRRHFLKTALNHCNLCRRGFYYYQRHFVDSELECNDVVLFWRIQRMLAITANTLRQQLTNTEVRRLEKNVKEVLEDFAEDGEKKIKLLTGKRVQLAEDLKKVREIQEKLDAFIEALHQEK",
"length": 979,
"header": "tr|E5KLJ9-1|E5KLJ9_HUMAN Computationally mapped isoform of Dynamin-like 120 kDa protein, mitochondrial OS=Homo sapiens OX=9606 GN=OPA1 PE=1 SV=1 CANONICAL=O60313-1"
},
"locus": {
"chromosome": "3",
"start_pos": 193692124,
"end_pos": 193593378,
"strand": "-",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000361715.6",
"url": "https://www.ensembl.org/id/ENST00000361715.6"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000355311.2",
"url": "https://www.ensembl.org/id/ENSP00000355311.2"
}
]
}
},
{
"isoform_ac": "H7C141-1",
"url": "",
"sequence": {
"sequence": "LASDEITTVRKNLESRGVEVDPSLIKDTWHQVYRRHFLKTALNHCNLCRRGFYYYQRHFVDSELECNDVVLFWRIQRMLAITANTLRQQLTNTEVRRLEKNVKEVLEDFAEDGEKKIKLLTGKRVQLAEDLKKLQGTGLSTVAHACNPSTLGGQDGWKTRNVLFPQLGLNTTHQATTWRRTQH",
"length": 183,
"header": "tr|H7C141-1|OPA1_HUMAN Computationally mapped isoform of Dynamin-like 120 kDa protein, mitochondrial OS=Homo sapiens OX=9606 GN=OPA1 PE=1 SV=1 CANONICAL=O60313-1"
},
"locus": {
"chromosome": "3",
"start_pos": 193668384,
"end_pos": 193662891,
"strand": "-",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000445863.1",
"url": "https://www.ensembl.org/id/ENST00000445863.1"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000398358.1",
"url": "https://www.ensembl.org/id/ENSP00000398358.1"
}
]
}
},
{
"isoform_ac": "H7C321-1",
"url": "",
"sequence": {
"sequence": "XDLSEYKWIVPDIVWEIDEYIDFEKIRKALPSSEDLVKLAPDFDKIVESLSLLKDFFTSGHKLVSEVIGASDLLLLLGYQSCSLK",
"length": 85,
"header": "tr|H7C321-1|H7C321_HUMAN Computationally mapped isoform of OPA1 mitochondrial dynamin like GTPase OS=Homo sapiens OX=9606 GN=OPA1 PE=1 SV=2 CANONICAL=O60313-1"
},
"locus": {
"chromosome": "3",
"start_pos": 193618727,
"end_pos": 193615703,
"strand": "-",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000434811.2",
"url": "https://www.ensembl.org/id/ENST00000434811.2"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000409084.2",
"url": "https://www.ensembl.org/id/ENSP00000409084.2"
}
]
}
},
{
"isoform_ac": "H7C3G2-1",
"url": "",
"sequence": {
"sequence": "XLEKNVKEVLEDFAEDGEKKIKLLTGKRVQLAEDLTRTQHYTPGHHMAPHPALTLLLPCLGSDIRARLLFVMESLLLSSALTLCARCLSISSFPPASLCPTPDRFLPHLKPDHAFVEIPSLPCLCFASLHQ",
"length": 131,
"header": "tr|H7C3G2-1|H7C3G2_HUMAN Computationally mapped isoform of OPA1 mitochondrial dynamin like GTPase OS=Homo sapiens OX=9606 GN=OPA1 PE=1 SV=1 CANONICAL=O60313-1"
},
"locus": {
"chromosome": "3",
"start_pos": 193668621,
"end_pos": 193667176,
"strand": "-",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000429164.1",
"url": "https://www.ensembl.org/id/ENST00000429164.1"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000411699.1",
"url": "https://www.ensembl.org/id/ENSP00000411699.1"
}
]
}
},
{
"isoform_ac": "O60313-1",
"url": "",
"sequence": {
"sequence": "MWRLRRAAVACEVCQSLVKHSSGIKGSLPLQKLHLVSRSIYHSHHPTLKLQRPQLRTSFQQFSSLTNLPLRKLKFSPIKYGYQPRRNFWPARLATRLLKLRYLILGSAVGGGYTAKKTFDQWKDMIPDLSEYKWIVPDIVWEIDEYIDFEKIRKALPSSEDLVKLAPDFDKIVESLSLLKDFFTSGSPEETAFRATDRGSESDKHFRKVSDKEKIDQLQEELLHTQLKYQRILERLEKENKELRKLVLQKDDKGIHHRKLKKSLIDMYSEVLDVLSDYDASYNTQDHLPRVVVVGDQSAGKTSVLEMIAQARIFPRGSGEMMTRSPVKVTLSEGPHHVALFKDSSREFDLTKEEDLAALRHEIELRMRKNVKEGCTVSPETISLNVKGPGLQRMVLVDLPGVINTVTSGMAPDTKETIFSISKAYMQNPNAIILCIQDGSVDAERSIVTDLVSQMDPHGRRTIFVLTKVDLAEKNVASPSRIQQIIEGKLFPMKALGYFAVVTGKGNSSESIEAIREYEEEFFQNSKLLKTSMLKAHQVTTRNLSLAVSDCFWKMVRESVEQQADSFKATRFNLETEWKNNYPRLRELDRNELFEKAKNEILDEVISLSQVTPKHWEEILQQSLWERVSTHVIENIYLPAAQTMNSGTFNTTVDIKLKQWTDKQLPNKAVEVAWETLQEEFSRFMTEPKGKEHDDIFDKLKEAVKEESIKRHKWNDFAEDSLRVIQHNALEDRSISDKQQWDAAIYFMEEALQARLKDTENAIENMVGPDWKKRWLYWKNRTQEQCVHNETKNELEKMLKCNEEHPAYLASDEITTVRKNLESRGVEVDPSLIKDTWHQVYRRHFLKTALNHCNLCRRGFYYYQRHFVDSELECNDVVLFWRIQRMLAITANTLRQQLTNTEVRRLEKNVKEVLEDFAEDGEKKIKLLTGKRVQLAEDLKKVREIQEKLDAFIEALHQEK",
"length": 960,
"header": "sp|O60313-1|OPA1_HUMAN Isoform 1 of Dynamin-like 120 kDa protein, mitochondrial OS=Homo sapiens OX=9606 GN=OPA1 PE=1 SV=3 CANONICAL=O60313-1"
},
"locus": {
"chromosome": "3",
"start_pos": 193692124,
"end_pos": 193593378,
"strand": "-",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000361828.7",
"url": "https://www.ensembl.org/id/ENST00000361828.7"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000354429.3",
"url": "https://www.ensembl.org/id/ENSP00000354429.3"
}
]
}
},
{
"isoform_ac": "O60313-10",
"url": "",
"sequence": {
"sequence": "MWRLRRAAVACEVCQSLVKHSSGIKGSLPLQKLHLVSRSIYHSHHPTLKLQRPQLRTSFQQFSSLTNLPLRKLKFSPIKYGYQPRRNFWPARLATRLLKLRYLILGSAVGGGYTAKKTFDQWKDMIPDLSEYKWIVPDIVWEIDEYIDFEKIRKALPSSEDLVKLAPDFDKIVESLSLLKDFFTSGHKLVSEVIGASDLLLLLGSPEETAFRATDRGSESDKHFRKGLLGELILLQQQIQEHEEEARRAAGQYSTSYAQQKRKVSDKEKIDQLQEELLHTQLKYQRILERLEKENKELRKLVLQKDDKGIHHRKLKKSLIDMYSEVLDVLSDYDASYNTQDHLPRVVVVGDQSAGKTSVLEMIAQARIFPRGSGEMMTRSPVKVTLSEGPHHVALFKDSSREFDLTKEEDLAALRHEIELRMRKNVKEGCTVSPETISLNVKGPGLQRMVLVDLPGVINTVTSGMAPDTKETIFSISKAYMQNPNAIILCIQDGSVDAERSIVTDLVSQMDPHGRRTIFVLTKVDLAEKNVASPSRIQQIIEGKLFPMKALGYFAVVTGKGNSSESIEAIREYEEEFFQNSKLLKTSMLKAHQVTTRNLSLAVSDCFWKMVRESVEQQADSFKATRFNLETEWKNNYPRLRELDRNELFEKAKNEILDEVISLSQVTPKHWEEILQQSLWERVSTHVIENIYLPAAQTMNSGTFNTTVDIKLKQWTDKQLPNKAVEVAWETLQEEFSRFMTEPKGKEHDDIFDKLKEAVKEESIKRHKWNDFAEDSLRVIQHNALEDRSISDKQQWDAAIYFMEEALQARLKDTENAIENMVGPDWKKRWLYWKNRTQEQCVHNETKNELEKMLKCNEEHPAYLASDEITTVRKNLESRGVEVDPSLIKDTWHQVYRRHFLKTALNHCNLCRRGFYYYQRHFVDSELECNDVVLFWRIQRMLAITANTLRQQLTNTEVRRLEKNVKEVLEDFAEDGEKKIKLLTGKRVQLAEDLKKVREIQEKLDAFIEALHQEK",
"length": 1015,
"header": "sp|O60313-10|OPA1_HUMAN Isoform 10 of Dynamin-like 120 kDa protein, mitochondrial OS=Homo sapiens OX=9606 GN=OPA1 PE=1 SV=3 CANONICAL=O60313-1"
},
"locus": {
"chromosome": "3",
"start_pos": 193692124,
"end_pos": 193593378,
"strand": "-",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000361510.8",
"url": "https://www.ensembl.org/id/ENST00000361510.8"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000355324.2",
"url": "https://www.ensembl.org/id/ENSP00000355324.2"
}
]
}
},
{
"isoform_ac": "O60313-11",
"url": "",
"sequence": {
"sequence": "MWRLRRAAVACEVCQSLVKHSSGIKGSLPLQKLHLVSRSIYHSHHPTLKLQRPQLRTSFQQFSSLTNLPLRKLKFSPIKYGYQPRRNFWPARLATRLLKLRYLILGSAVGGGYTAKKTFDQWKDMIPDLSEYKWIVPDIVWEIDEYIDFEKIRKALPSSEDLVKLAPDFDKIVESLSLLKDFFTSGHKLVSEVIGASDLLLLLGSPEETAFRATDRGSESDKHFRKVSDKEKIDQLQEELLHTQLKYQRILERLEKENKELRKLVLQKDDKGIHHRKLKKSLIDMYSEVLDVLSDYDASYNTQDHLPRVVVVGDQSAGKTSVLEMIAQARIFPRGSGEMMTRSPVKVTLSEGPHHVALFKDSSREFDLTKEEDLAALRHEIELRMRKNVKEGCTVSPETISLNVKGPGLQRMVLVDLPGVINTVTSGMAPDTKETIFSISKAYMQNPNAIILCIQDGSVDAERSIVTDLVSQMDPHGRRTIFVLTKVDLAEKNVASPSRIQQIIEGKLFPMKALGYFAVVTGKGNSSESIEAIREYEEEFFQNSKLLKTSMLKAHQVTTRNLSLAVSDCFWKMVRESVEQQADSFKATRFNLETEWKNNYPRLRELDRNELFEKAKNEILDEVISLSQVTPKHWEEILQQSLWERVSTHVIENIYLPAAQTMNSGTFNTTVDIKLKQWTDKQLPNKAVEVAWETLQEEFSRFMTEPKGKEHDDIFDKLKEAVKEESIKRHKWNDFAEDSLRVIQHNALEDRSISDKQQWDAAIYFMEEALQARLKDTENAIENMVGPDWKKRWLYWKNRTQEQCVHNETKNELEKMLKCNEEHPAYLASDEITTVRKNLESRGVEVDPSLIKDTWHQVYRRHFLKTALNHCNLCRRGFYYYQRHFVDSELECNDVVLFWRIQRMLAITANTLRQQLTNTEVRRLEKNVKEVLEDFAEDGEKKIKLLTGKRVQLAEDLKKVREIQEKLDAFIEALHQEK",
"length": 978,
"header": "sp|O60313-11|OPA1_HUMAN Isoform 11 of Dynamin-like 120 kDa protein, mitochondrial OS=Homo sapiens OX=9606 GN=OPA1 PE=1 SV=3 CANONICAL=O60313-1"
},
"locus": {
"chromosome": "3",
"start_pos": 193692124,
"end_pos": 193593378,
"strand": "-",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000392437.6",
"url": "https://www.ensembl.org/id/ENST00000392437.6"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000376232.2",
"url": "https://www.ensembl.org/id/ENSP00000376232.2"
}
]
}
},
{
"isoform_ac": "O60313-13",
"url": "",
"sequence": {
"sequence": "MWRLRRAAVACEVCQSLVKHSSGIKGSLPLQKLHLVSRSIYHSHHPTLKLQRPQLRTSFQQFSSLTNLPLRKLKFSPIKYGYQPRRNFWPARLATRLLKLRYLILGSAVGGGYTAKKTFDQWKDMIPDLSEYKWIVPDIVWEIDEYIDFGSPEETAFRATDRGSESDKHFRKVSDKEKIDQLQEELLHTQLKYQRILERLEKENKELRKLVLQKDDKGIHHRKLKKSLIDMYSEVLDVLSDYDASYNTQDHLPRVVVVGDQSAGKTSVLEMIAQARIFPRGSGEMMTRSPVKVTLSEGPHHVALFKDSSREFDLTKEEDLAALRHEIELRMRKNVKEGCTVSPETISLNVKGPGLQRMVLVDLPGVINTVTSGMAPDTKETIFSISKAYMQNPNAIILCIQDGSVDAERSIVTDLVSQMDPHGRRTIFVLTKVDLAEKNVASPSRIQQIIEGKLFPMKALGYFAVVTGKGNSSESIEAIREYEEEFFQNSKLLKTSMLKAHQVTTRNLSLAVSDCFWKMVRESVEQQADSFKATRFNLETEWKNNYPRLRELDRNELFEKAKNEILDEVISLSQVTPKHWEEILQQSLWERVSTHVIENIYLPAAQTMNSGTFNTTVDIKLKQWTDKQLPNKAVEVAWETLQEEFSRFMTEPKGKEHDDIFDKLKEAVKEESIKRHKWNDFAEDSLRVIQHNALEDRSISDKQQWDAAIYFMEEALQARLKDTENAIENMVGPDWKKRWLYWKNRTQEQCVHNETKNELEKMLKCNEEHPAYLASDEITTVRKNLESRGVEVDPSLIKDTWHQVYRRHFLKTALNHCNLCRRGFYYYQRHFVDSELECNDVVLFWRIQRMLAITANTLRQQLTNTEVRRLEKNVKEVLEDFAEDGEKKIKLLTGKRVQLAEDLKKVREIQEKLDAFIEALHQEK",
"length": 924,
"header": "sp|O60313-13|OPA1_HUMAN Isoform 13 of Dynamin-like 120 kDa protein, mitochondrial OS=Homo sapiens OX=9606 GN=OPA1 PE=1 SV=3 CANONICAL=O60313-1"
},
"locus": {
"chromosome": "3",
"start_pos": 193692124,
"end_pos": 193593378,
"strand": "-",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000646793.1",
"url": "https://www.ensembl.org/id/ENST00000646793.1"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000494512.1",
"url": "https://www.ensembl.org/id/ENSP00000494512.1"
}
]
}
},
{
"isoform_ac": "O60313-2",
"url": "",
"sequence": {
"sequence": "MWRLRRAAVACEVCQSLVKHSSGIKGSLPLQKLHLVSRSIYHSHHPTLKLQRPQLRTSFQQFSSLTNLPLRKLKFSPIKYGYQPRRNFWPARLATRLLKLRYLILGSAVGGGYTAKKTFDQWKDMIPDLSEYKWIVPDIVWEIDEYIDFEKIRKALPSSEDLVKLAPDFDKIVESLSLLKDFFTSGSPEETAFRATDRGSESDKHFRKGLLGELILLQQQIQEHEEEARRAAGQYSTSYAQQKRKVSDKEKIDQLQEELLHTQLKYQRILERLEKENKELRKLVLQKDDKGIHHRKLKKSLIDMYSEVLDVLSDYDASYNTQDHLPRVVVVGDQSAGKTSVLEMIAQARIFPRGSGEMMTRSPVKVTLSEGPHHVALFKDSSREFDLTKEEDLAALRHEIELRMRKNVKEGCTVSPETISLNVKGPGLQRMVLVDLPGVINTVTSGMAPDTKETIFSISKAYMQNPNAIILCIQDGSVDAERSIVTDLVSQMDPHGRRTIFVLTKVDLAEKNVASPSRIQQIIEGKLFPMKALGYFAVVTGKGNSSESIEAIREYEEEFFQNSKLLKTSMLKAHQVTTRNLSLAVSDCFWKMVRESVEQQADSFKATRFNLETEWKNNYPRLRELDRNELFEKAKNEILDEVISLSQVTPKHWEEILQQSLWERVSTHVIENIYLPAAQTMNSGTFNTTVDIKLKQWTDKQLPNKAVEVAWETLQEEFSRFMTEPKGKEHDDIFDKLKEAVKEESIKRHKWNDFAEDSLRVIQHNALEDRSISDKQQWDAAIYFMEEALQARLKDTENAIENMVGPDWKKRWLYWKNRTQEQCVHNETKNELEKMLKCNEEHPAYLASDEITTVRKNLESRGVEVDPSLIKDTWHQVYRRHFLKTALNHCNLCRRGFYYYQRHFVDSELECNDVVLFWRIQRMLAITANTLRQQLTNTEVRRLEKNVKEVLEDFAEDGEKKIKLLTGKRVQLAEDLKKVREIQEKLDAFIEALHQEK",
"length": 997,
"header": "sp|O60313-2|OPA1_HUMAN Isoform 2 of Dynamin-like 120 kDa protein, mitochondrial OS=Homo sapiens OX=9606 GN=OPA1 PE=1 SV=3 CANONICAL=O60313-1"
},
"locus": {
"chromosome": "3",
"start_pos": 193692124,
"end_pos": 193593378,
"strand": "-",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000361908.8",
"url": "https://www.ensembl.org/id/ENST00000361908.8"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000354681.3",
"url": "https://www.ensembl.org/id/ENSP00000354681.3"
}
]
}
},
{
"isoform_ac": "O60313-9",
"url": "",
"sequence": {
"sequence": "MWRLRRAAVACEVCQSLVKHSSGIKGSLPLQKLHLVSRSIYHSHHPTLKLQRPQLRTSFQQFSSLTNLPLRKLKFSPIKYGYQPRRNFWPARLATRLLKLRYLILGSAVGGGYTAKKTFDQWKDMIPDLSEYKWIVPDIVWEIDEYIDFGSPEETAFRATDRGSESDKHFRKGLLGELILLQQQIQEHEEEARRAAGQYSTSYAQQKRKVSDKEKIDQLQEELLHTQLKYQRILERLEKENKELRKLVLQKDDKGIHHRKLKKSLIDMYSEVLDVLSDYDASYNTQDHLPRVVVVGDQSAGKTSVLEMIAQARIFPRGSGEMMTRSPVKVTLSEGPHHVALFKDSSREFDLTKEEDLAALRHEIELRMRKNVKEGCTVSPETISLNVKGPGLQRMVLVDLPGVINTVTSGMAPDTKETIFSISKAYMQNPNAIILCIQDGSVDAERSIVTDLVSQMDPHGRRTIFVLTKVDLAEKNVASPSRIQQIIEGKLFPMKALGYFAVVTGKGNSSESIEAIREYEEEFFQNSKLLKTSMLKAHQVTTRNLSLAVSDCFWKMVRESVEQQADSFKATRFNLETEWKNNYPRLRELDRNELFEKAKNEILDEVISLSQVTPKHWEEILQQSLWERVSTHVIENIYLPAAQTMNSGTFNTTVDIKLKQWTDKQLPNKAVEVAWETLQEEFSRFMTEPKGKEHDDIFDKLKEAVKEESIKRHKWNDFAEDSLRVIQHNALEDRSISDKQQWDAAIYFMEEALQARLKDTENAIENMVGPDWKKRWLYWKNRTQEQCVHNETKNELEKMLKCNEEHPAYLASDEITTVRKNLESRGVEVDPSLIKDTWHQVYRRHFLKTALNHCNLCRRGFYYYQRHFVDSELECNDVVLFWRIQRMLAITANTLRQQLTNTEVRRLEKNVKEVLEDFAEDGEKKIKLLTGKRVQLAEDLKKVREIQEKLDAFIEALHQEK",
"length": 961,
"header": "sp|O60313-9|OPA1_HUMAN Isoform 9 of Dynamin-like 120 kDa protein, mitochondrial OS=Homo sapiens OX=9606 GN=OPA1 PE=1 SV=3 CANONICAL=O60313-1"
},
"locus": {
"chromosome": "3",
"start_pos": 193692124,
"end_pos": 193593378,
"strand": "-",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000361150.6",
"url": "https://www.ensembl.org/id/ENST00000361150.6"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000354781.2",
"url": "https://www.ensembl.org/id/ENSP00000354781.2"
}
]
}
}
],
"glycosylation": [
{
"glytoucan_ac": "G49108TO",
"type": "O-linked",
"subtype": "O-GlcNAcylation",
"site_category": "reported_with_glycan",
"site_seq": "T",
"relation": "attached",
"comment": "O-GlcNAcylation",
"start_pos": 661,
"start_aa": "Thr",
"end_pos": 661,
"end_aa": "Thr",
"residue": "Thr",
"site_lbl": "Thr661",
"evidence": [
{
"id": "O60313",
"database": "O-GlcNAc Database",
"url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60313"
},
{
"id": "28510447",
"database": "PubMed",
"url": "https://glygen.org/publication/PubMed/28510447"
},
{
"id": "37217939",
"database": "PubMed",
"url": "https://glygen.org/publication/PubMed/37217939"
},
{
"id": "38253038",
"database": "PubMed",
"url": "https://glygen.org/publication/PubMed/38253038"
}
]
}
],
"phosphorylation": [
{
"start_pos": 107,
"end_pos": 107,
"kinase_uniprot_canonical_ac": "",
"kinase_gene_name": "",
"residue": "Ser",
"comment": "",
"evidence": [
{
"database": "iPTMnet",
"id": "E5KLJ9",
"url": "http://research.bioinformatics.udel.edu/iptmnet/entry/E5KLJ9"
},
{
"database": "PubMed",
"id": "18452278",
"url": "https://glygen.org/publication/PubMed/18452278"
},
{
"database": "iPTMnet",
"id": "O60313",
"url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60313"
}
],
"site_lbl": "Ser107"
},
{
"start_pos": 114,
"end_pos": 114,
"kinase_uniprot_canonical_ac": "",
"kinase_gene_name": "",
"residue": "Thr",
"comment": "",
"evidence": [
{
"database": "iPTMnet",
"id": "E5KLJ9",
"url": "http://research.bioinformatics.udel.edu/iptmnet/entry/E5KLJ9"
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"name": "mitochondrial outer membrane",
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"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005741",
"evidence": [
{
"database": "UniProtKB",
"id": "O60313",
"url": "https://www.uniprot.org/uniprot/O60313"
}
],
"pmid": ""
},
{
"name": "mitochondrial intermembrane space",
"id": "GO:0005758",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005758",
"evidence": [
{
"database": "UniProtKB",
"id": "O60313",
"url": "https://www.uniprot.org/uniprot/O60313"
}
],
"pmid": ""
},
{
"name": "microtubule",
"id": "GO:0005874",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005874",
"evidence": [
{
"database": "UniProtKB",
"id": "O60313",
"url": "https://www.uniprot.org/uniprot/O60313"
}
],
"pmid": ""
},
{
"name": "membrane",
"id": "GO:0016020",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020",
"evidence": [
{
"database": "UniProtKB",
"id": "O60313",
"url": "https://www.uniprot.org/uniprot/O60313"
}
],
"pmid": ""
},
{
"name": "dendrite",
"id": "GO:0030425",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425",
"evidence": [
{
"database": "UniProtKB",
"id": "O60313",
"url": "https://www.uniprot.org/uniprot/O60313"
}
],
"pmid": ""
},
{
"name": "mitochondrial membrane",
"id": "GO:0031966",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031966",
"evidence": [
{
"database": "UniProtKB",
"id": "O60313",
"url": "https://www.uniprot.org/uniprot/O60313"
}
],
"pmid": ""
},
{
"name": "axon cytoplasm",
"id": "GO:1904115",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904115",
"evidence": [
{
"database": "UniProtKB",
"id": "O60313",
"url": "https://www.uniprot.org/uniprot/O60313"
}
],
"pmid": ""
},
{
"name": "mitochondrial crista",
"id": "GO:0030061",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030061",
"evidence": [
{
"database": "UniProtKB",
"id": "O60313",
"url": "https://www.uniprot.org/uniprot/O60313"
}
],
"pmid": ""
}
]
},
{
"name": "Biological Process",
"total": 16,
"go_terms": [
{
"name": "apoptotic process",
"id": "GO:0006915",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915",
"evidence": [
{
"database": "UniProtKB",
"id": "O60313",
"url": "https://www.uniprot.org/uniprot/O60313"
}
],
"pmid": ""
},
{
"name": "membrane tubulation",
"id": "GO:0097749",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097749",
"evidence": [
{
"database": "UniProtKB",
"id": "O60313",
"url": "https://www.uniprot.org/uniprot/O60313"
}
],
"pmid": ""
},
{
"name": "negative regulation of apoptotic process",
"id": "GO:0043066",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066",
"evidence": [
{
"database": "UniProtKB",
"id": "O60313",
"url": "https://www.uniprot.org/uniprot/O60313"
}
],
"pmid": ""
},
{
"name": "protein complex oligomerization",
"id": "GO:0051259",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051259",
"evidence": [
{
"database": "UniProtKB",
"id": "O60313",
"url": "https://www.uniprot.org/uniprot/O60313"
}
],
"pmid": ""
},
{
"name": "visual perception",
"id": "GO:0007601",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007601",
"evidence": [
{
"database": "UniProtKB",
"id": "O60313",
"url": "https://www.uniprot.org/uniprot/O60313"
}
],
"pmid": ""
},
{
"name": "neural tube closure",
"id": "GO:0001843",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001843",
"evidence": [
{
"database": "UniProtKB",
"id": "O60313",
"url": "https://www.uniprot.org/uniprot/O60313"
}
],
"pmid": ""
},
{
"name": "mitochondrion organization",
"id": "GO:0007005",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007005",
"evidence": [
{
"database": "UniProtKB",
"id": "O60313",
"url": "https://www.uniprot.org/uniprot/O60313"
}
],
"pmid": ""
},
{
"name": "mitochondrial genome maintenance",
"id": "GO:0000002",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000002",
"evidence": [
{
"database": "UniProtKB",
"id": "O60313",
"url": "https://www.uniprot.org/uniprot/O60313"
}
],
"pmid": ""
},
{
"name": "mitochondrial fusion",
"id": "GO:0008053",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008053",
"evidence": [
{
"database": "UniProtKB",
"id": "O60313",
"url": "https://www.uniprot.org/uniprot/O60313"
}
],
"pmid": ""
},
{
"name": "negative regulation of release of cytochrome c from mitochondria",
"id": "GO:0090201",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090201",
"evidence": [
{
"database": "UniProtKB",
"id": "O60313",
"url": "https://www.uniprot.org/uniprot/O60313"
}
],
"pmid": ""
},
{
"name": "cellular senescence",
"id": "GO:0090398",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090398",
"evidence": [
{
"database": "UniProtKB",
"id": "O60313",
"url": "https://www.uniprot.org/uniprot/O60313"
}
],
"pmid": ""
},
{
"name": "GTP metabolic process",
"id": "GO:0046039",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046039",
"evidence": [
{
"database": "UniProtKB",
"id": "O60313",
"url": "https://www.uniprot.org/uniprot/O60313"
}
],
"pmid": ""
},
{
"name": "mitochondrial fission",
"id": "GO:0000266",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000266",
"evidence": [
{
"database": "UniProtKB",
"id": "O60313",
"url": "https://www.uniprot.org/uniprot/O60313"
}
],
"pmid": ""
},
{
"name": "negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway",
"id": "GO:1902236",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902236",
"evidence": [
{
"database": "UniProtKB",
"id": "O60313",
"url": "https://www.uniprot.org/uniprot/O60313"
}
],
"pmid": ""
},
{
"name": "axonal transport of mitochondrion",
"id": "GO:0019896",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019896",
"evidence": [
{
"database": "UniProtKB",
"id": "O60313",
"url": "https://www.uniprot.org/uniprot/O60313"
}
],
"pmid": ""
},
{
"name": "inner mitochondrial membrane organization",
"id": "GO:0007007",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007007",
"evidence": [
{
"database": "UniProtKB",
"id": "O60313",
"url": "https://www.uniprot.org/uniprot/O60313"
}
],
"pmid": ""
}
]
}
]
},
"pro_annotation": [],
"site_annotation": [
{
"start_pos": 507,
"end_pos": 509,
"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 543,
"end_pos": 545,
"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 650,
"end_pos": 652,
"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 780,
"end_pos": 782,
"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 789,
"end_pos": 791,
"annotation": "n_glycosylation_sequon"
}
],
"ptm_annotation": [
{
"annotation": "Cleavage at position S2 is mediated by YME1L (PubMed:17709429, PubMed:24616225, PubMed:27495975). Cleavage may occur in the sequence motif Leu-Gln-Gln-Gln-Ile-Gln (LQQQIQ) (PubMed:16778770).",
"evidence": [
{
"database": "UniProtKB",
"id": "O60313",
"url": "https://www.uniprot.org/uniprot/O60313"
},
{
"database": "PubMed",
"id": "17709429",
"url": "https://glygen.org/publication/PubMed/17709429"
},
{
"database": "PubMed",
"id": "16778770",
"url": "https://glygen.org/publication/PubMed/16778770"
},
{
"database": "PubMed",
"id": "24616225",
"url": "https://glygen.org/publication/PubMed/24616225"
},
{
"database": "PubMed",
"id": "27495975",
"url": "https://glygen.org/publication/PubMed/27495975"
}
]
},
{
"annotation": "PARL-dependent proteolytic processing releases an antiapoptotic soluble form not required for mitochondrial fusion. Cleaved by OMA1 at position S1 following stress conditions.",
"evidence": [
{
"database": "UniProtKB",
"id": "O60313",
"url": "https://www.uniprot.org/uniprot/O60313"
},
{
"database": "PubMed",
"id": "20038677",
"url": "https://glygen.org/publication/PubMed/20038677"
}
]
}
],
"interactions": [],
"reactions": [
{
"id": "19669",
"name": "",
"equation": "GTP + H2O = GDP + H(+) + phosphate",
"summary": "",
"cellular_location": "",
"input_participant_list": [],
"output_participant_list": [],
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"evidence": [
{
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"url": "https://www.rhea-db.org/rhea/19669"
}
]
},
{
"id": "R-HSA-8867344",
"name": "OMA1 hydrolyses OPA1",
"equation": "",
"summary": "Mitochondrial metalloendopeptidase OMA1 (OMA1) is part of the quality control system in the inner membrane of mitochondria. OMA1 controls the cleavage and function of mitochondrial dynamin-like 120 kDa protein (OPA1), a GTPase required for mitochondrial fusion and regulation of apoptosis (Head et al. 2009). OPA1 is suggested to be antiapoptotic and mutations in OPA1 are the most prevalent cause of dominant optic atrophy (DOA), a progressive eye disease which affects retinal ganglion cells in the optic nerve (Yu-Wai-Man et al. 2009).",
"cellular_location": "mitochondrial inner membrane, mitochondrial matrix",
"input_participant_list": [
"R-HSA-8867508"
],
"output_participant_list": [
"R-HSA-8867509",
"R-HSA-8867513"
],
"enzyme_list": [
"O60313-1",
"Q96E52-1"
],
"evidence": [
{
"id": "R-HSA-8867344",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8867344"
}
]
},
{
"id": "R-HSA-9839064",
"name": "YME1L1 binds mitochondrial inner membrane proteins",
"equation": "",
"summary": "YME1L1 (YME1L, i-AAA+) is a homohexameric zinc metalloprotease that is anchored in the inner membrane and protrudes into the mitochondrial intermembrane space (Coppola et al. 2000, Shah et al. 2000, Wai et al. 2016). Substrate proteins of YME1L1 initially bind conserved helices at the N-terminal end of the ATPase domain and at the C-terminal domain of the protease domain (inferred from the yeast homolog in Graef et al. 2007). The substrate protein is unfolded and translocated processively in an ATP-dependent reaction to a central pore formed by the protease domains of the YME1L1 complex.
YME1L1 binds, unfolds, and degrades specific inner membrane proteins (MacVicar et al. 2019). These include components of the mitochondrial import apparatus: TIMM17A (Rainbolt et al. 2013), TIMM22 (MacVicar et al. 2019), and improperly folded TIMM9 and TIMM10 (inferred from yeast homologs in Baker et al. 2012). Substrates of YME1L1 also include components of the respiratory chain: MT\u2011ND1 and MT\u2011CO4 (Stiburek et al. 2012, Cesnekova et al. 2018), unassembled MT\u2011CO2 (inferred from yeast homologs in Nakai et al. 1995), and subunits of respiratory chain complex I (Cesnekova et al. 2018) such as unassembled NDUFB6 (Stiburek et al. 2012, Cesnekova et al. 2018). YME1L1 also degrades the protease OMA1 (Rainbolt et al. 2016), a stress-activated ATP-independent protease that can act reciprocally to YME1L1, and OPA1 (Cesnekova et al. 2018), a dynamin-like protein that controls mitochondrial morphology.",
"cellular_location": "mitochondrial inner membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P03891-1",
"P03886-1",
"P00403-1",
"O60313-1",
"P03915-1",
"P03923-1",
"Q96E52-1",
"Q96TA2-1"
],
"evidence": [
{
"id": "R-HSA-9839064",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9839064"
}
]
},
{
"id": "R-HSA-9839146",
"name": "YME1L1 degrades mitochondrial inner membrane proteins",
"equation": "",
"summary": "YME1L1 (YME1L, i-AAA) is a hexameric metalloprotease that is anchored in the inner membrane and protrudes into the mitochondrial intermembrane space (Coppola et al. 2000, Shah et al. 2000, Wai et al. 2016). Each monomer of YME1L1 contains a membrane-proximal ATPase and protein unfolding domain and a membrane-distal protease domain (inferred from the yeast homolog in Puchades et al. 2017). The substrate protein enters a central channel formed by the ATPase domains, where it is unfolded and translocated into the pore formed by the protease domains (inferred from the yeast homolog in Puchades et al. 2017). Within the protease pore, it is hydrolyzed by zinc cofactors bound to the protease domains (inferred from the yeast homolog in Puchades et al. 2017).
YME1L1 binds, unfolds, and degrades specific inner membrane proteins (MacVicar et al. 2019). These include components of the mitochondrial import apparatus: TIMM17A (Rainbolt et al. 2013), TIMM22 (MacVicar et al. 2019), and improperly folded TIMM9 and TIMM10 (inferred from yeast homologs in Baker et al. 2012). Substrates of YME1l1 also include components of the respiratory chain: MT\u2011ND1 and MT\u2011CO4 (Stiburek et al. 2012, Cesnekova et al. 2018), unassembled MT\u2011CO2 (inferred from yeast homologs in Nakai et al. 1995), and subunits of respiratory chain complex I (Cesnekova et al. 2018) such as unassembled NDUFB6 (Stiburek et al. 2012, Cesnekova et al. 2018). YME1L1 also degrades the protease OMA1 (Rainbolt et al. 2016), a stress-activated ATP-independent protease that can act reciprocally to YME1L1, and OPA1 (Cesnekova et al. 2018), a dynamin-like protein that controls mitochondrial morphology.",
"cellular_location": "mitochondrial inner membrane",
"input_participant_list": [],
"output_participant_list": [
"R-ALL-5696026",
"R-ALL-9839058"
],
"enzyme_list": [
"P03891-1",
"P03886-1",
"P00403-1",
"O60313-1",
"P03915-1",
"P03923-1",
"Q96E52-1",
"Q96TA2-1"
],
"evidence": [
{
"id": "R-HSA-9839146",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9839146"
}
]
}
],
"reaction_participants": [
{
"participant_id": "R-ALL-5696026",
"participant_name": "ADP [mitochondrial intermembrane space]",
"crossref": [
{
"id": "C00008",
"database": "COMPOUND",
"url": ""
},
{
"id": "456216",
"database": "ChEBI",
"url": ""
},
{
"id": "000012360703",
"database": "ZINC",
"url": ""
},
{
"id": "C00008",
"database": "COMPOUND",
"url": ""
},
{
"id": "000012360703",
"database": "ZINC",
"url": ""
},
{
"id": "456216",
"database": "ChEBI",
"url": ""
},
{
"id": "C00008",
"database": "COMPOUND",
"url": ""
},
{
"id": "456216",
"database": "ChEBI",
"url": ""
},
{
"id": "000012360703",
"database": "ZINC",
"url": ""
},
{
"id": "C00008",
"database": "COMPOUND",
"url": ""
},
{
"id": "456216",
"database": "ChEBI",
"url": ""
},
{
"id": "000012360703",
"database": "ZINC",
"url": ""
},
{
"id": "456216",
"database": "ChEBI",
"url": ""
},
{
"id": "000012360703",
"database": "ZINC",
"url": ""
},
{
"id": "C00008",
"database": "COMPOUND",
"url": ""
},
{
"id": "C00008",
"database": "COMPOUND",
"url": ""
},
{
"id": "456216",
"database": "ChEBI",
"url": ""
},
{
"id": "000012360703",
"database": "ZINC",
"url": ""
},
{
"id": "C00008",
"database": "COMPOUND",
"url": ""
},
{
"id": "456216",
"database": "ChEBI",
"url": ""
},
{
"id": "000012360703",
"database": "ZINC",
"url": ""
}
]
},
{
"participant_id": "R-ALL-9839058",
"participant_name": "Pi [mitochondrial intermembrane space]",
"crossref": [
{
"id": "C00009",
"database": "COMPOUND",
"url": ""
},
{
"id": "43474",
"database": "ChEBI",
"url": ""
},
{
"id": "C00009",
"database": "COMPOUND",
"url": ""
},
{
"id": "43474",
"database": "ChEBI",
"url": ""
}
]
},
{
"participant_id": "R-HSA-8867508",
"participant_name": "OPA1 [mitochondrial inner membrane]",
"crossref": [
{
"id": "O60313",
"database": "UniProt",
"url": ""
},
{
"id": "8EFT",
"database": "PDB",
"url": ""
},
{
"id": "ENSG00000198836",
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},
{
"id": "O60313",
"database": "PRO",
"url": ""
},
{
"id": "NP_570847.2",
"database": "RefSeq",
"url": ""
},
{
"id": "O60313",
"database": "Pharos - Targets",
"url": ""
},
{
"id": "8EFF",
"database": "PDB",
"url": ""
},
{
"id": "NP_570849.2",
"database": "RefSeq",
"url": ""
},
{
"id": "8EFR",
"database": "PDB",
"url": ""
},
{
"id": "NP_570850.2",
"database": "RefSeq",
"url": ""
},
{
"id": "NP_570844.1",
"database": "RefSeq",
"url": ""
},
{
"id": "HMDBP11870",
"database": "HMDB Protein",
"url": ""
},
{
"id": "8EEW",
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"url": ""
},
{
"id": "NP_570846.1",
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"url": ""
},
{
"id": "ENST00000361510",
"database": "Ensembl",
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},
{
"id": "8EF7",
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"url": ""
},
{
"id": "ENST00000392437",
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},
{
"id": "16590",
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},
{
"id": "ENSG00000198836",
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},
{
"id": "ENSP00000376232",
"database": "Ensembl",
"url": ""
},
{
"id": "ENSP00000355324",
"database": "Ensembl",
"url": ""
},
{
"id": "ENSP00000354781",
"database": "Ensembl",
"url": ""
},
{
"id": "ENST00000361150",
"database": "Ensembl",
"url": ""
},
{
"id": "3.6.5.5",
"database": "IntEnz",
"url": ""
},
{
"id": "ENSP00000494512",
"database": "Ensembl",
"url": ""
},
{
"id": "ENSP00000354681",
"database": "Ensembl",
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},
{
"id": "NP_056375.2",
"database": "RefSeq",
"url": ""
},
{
"id": "ENST00000646793",
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},
{
"id": "6JTG",
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"url": ""
},
{
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"url": ""
},
{
"id": "ENSP00000354429",
"database": "Ensembl",
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},
{
"id": "ENST00000361908",
"database": "Ensembl",
"url": ""
},
{
"id": "O60313",
"database": "GeneCards",
"url": ""
},
{
"id": "ENSG00000198836-OPA1",
"database": "HPA",
"url": ""
},
{
"id": "8EFS",
"database": "PDB",
"url": ""
}
]
},
{
"participant_id": "R-HSA-8867509",
"participant_name": "OPA1(88-194) [mitochondrial inner membrane]",
"crossref": [
{
"id": "8EFF",
"database": "PDB",
"url": ""
},
{
"id": "ENST00000361150",
"database": "Ensembl",
"url": ""
},
{
"id": "ENSP00000354429",
"database": "Ensembl",
"url": ""
},
{
"id": "ENST00000361510",
"database": "Ensembl",
"url": ""
},
{
"id": "ENSG00000198836",
"database": "OpenTargets",
"url": ""
},
{
"id": "ENSG00000198836",
"database": "Ensembl",
"url": ""
},
{
"id": "NP_056375.2",
"database": "RefSeq",
"url": ""
},
{
"id": "NP_570844.1",
"database": "RefSeq",
"url": ""
},
{
"id": "O60313",
"database": "UniProt",
"url": ""
},
{
"id": "ENSP00000355324",
"database": "Ensembl",
"url": ""
},
{
"id": "NP_570847.2",
"database": "RefSeq",
"url": ""
},
{
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"url": ""
},
{
"id": "8EEW",
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"url": ""
},
{
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"url": ""
},
{
"id": "ENST00000392437",
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"url": ""
},
{
"id": "8EFR",
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"url": ""
},
{
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"url": ""
},
{
"id": "8EFS",
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"url": ""
},
{
"id": "8EF7",
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"url": ""
},
{
"id": "ENST00000361908",
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},
{
"id": "NP_570849.2",
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},
{
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},
{
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{
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"url": ""
},
{
"id": "ENST00000646793",
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},
{
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},
{
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"url": ""
},
{
"id": "ENSP00000354781",
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{
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{
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{
"id": "NP_570846.1",
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{
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{
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{
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},
{
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}
]
},
{
"participant_id": "R-HSA-8867513",
"participant_name": "OPA1(195-960) [mitochondrial inner membrane]",
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"url": ""
},
{
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{
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{
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{
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{
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{
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{
"id": "NP_056375.2",
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{
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{
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{
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"url": ""
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{
"id": "NP_570847.2",
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"url": ""
},
{
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},
{
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{
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{
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"database": "PDB",
"url": ""
},
{
"id": "ENST00000392437",
"database": "Ensembl",
"url": ""
}
]
}
],
"reaction_enzymes": [
{
"uniprot_ac": "A0A0G2JDV3",
"gene_name": "Gbp6",
"activity": [
{
"ec_number": "3.6.5.-",
"activity": "",
"evidence": [
{
"id": "A0A0G2JDV3",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/A0A0G2JDV3"
}
]
}
]
},
{
"uniprot_ac": "A0A140LIF8",
"gene_name": "Irgm2",
"activity": [
{
"ec_number": "3.6.5.-",
"activity": "",
"evidence": [
{
"id": "A0A140LIF8",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/A0A140LIF8"
}
]
}
]
},
{
"uniprot_ac": "A0A8I5ZU96",
"gene_name": "ENSRNOG00000063798",
"activity": [
{
"ec_number": "3.6.5.2",
"activity": "GTP + H2O = GDP + H(+) + phosphate.",
"evidence": [
{
"id": "A0A8I5ZU96",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/A0A8I5ZU96"
}
]
},
{
"ec_number": "3.6.5.2",
"activity": "",
"evidence": [
{
"id": "A0A8I5ZU96",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/A0A8I5ZU96"
}
]
}
]
},
{
"uniprot_ac": "A0A8I6AHV4",
"gene_name": "LOC367858",
"activity": [
{
"ec_number": "3.6.5.2",
"activity": "GTP + H2O = GDP + H(+) + phosphate.",
"evidence": [
{
"id": "A0A8I6AHV4",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/A0A8I6AHV4"
}
]
},
{
"ec_number": "3.6.5.2",
"activity": "",
"evidence": [
{
"id": "A0A8I6AHV4",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/A0A8I6AHV4"
}
]
}
]
},
{
"uniprot_ac": "A1A4Y4",
"gene_name": "IRGM",
"activity": [
{
"ec_number": "3.6.5.-",
"activity": "",
"evidence": [
{
"id": "A1A4Y4",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/A1A4Y4"
}
]
}
]
},
{
"uniprot_ac": "A1Z9N0",
"gene_name": "Opa1",
"activity": [
{
"ec_number": "3.6.5.5",
"activity": "GTP + H2O = GDP + H(+) + phosphate.",
"evidence": [
{
"id": "A1Z9N0",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/A1Z9N0"
}
]
},
{
"ec_number": "3.6.5.5",
"activity": "",
"evidence": [
{
"id": "A1Z9N0",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/A1Z9N0"
}
]
}
]
},
{
"uniprot_ac": "A4UUI3",
"gene_name": "Gbp4",
"activity": [
{
"ec_number": "3.6.5.-",
"activity": "",
"evidence": [
{
"id": "A4UUI3",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/A4UUI3"
}
]
}
]
},
{
"uniprot_ac": "A6NHL2",
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"activity": [
{
"ec_number": "3.6.5.-",
"activity": "",
"evidence": [
{
"id": "A6NHL2",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/A6NHL2"
}
]
}
]
},
{
"uniprot_ac": "A6NIZ1",
"gene_name": "RAP1BL",
"activity": [
{
"ec_number": "3.6.5.2",
"activity": "GTP + H2O = GDP + H(+) + phosphate.",
"evidence": [
{
"id": "A6NIZ1",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/A6NIZ1"
}
]
},
{
"ec_number": "3.6.5.2",
"activity": "",
"evidence": [
{
"id": "A6NIZ1",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/A6NIZ1"
}
]
}
]
},
{
"uniprot_ac": "B0G189",
"gene_name": "guf1",
"activity": [
{
"ec_number": "3.6.5.-",
"activity": "",
"evidence": [
{
"id": "B0G189",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/B0G189"
}
]
}
]
},
{
"uniprot_ac": "B2GUV7",
"gene_name": "Eif5b",
"activity": [
{
"ec_number": "3.6.5.3",
"activity": "GTP + H2O = GDP + H(+) + phosphate.",
"evidence": [
{
"id": "B2GUV7",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/B2GUV7"
}
]
},
{
"ec_number": "3.6.5.3",
"activity": "",
"evidence": [
{
"id": "B2GUV7",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/B2GUV7"
}
]
}
]
},
{
"uniprot_ac": "B2RVE2",
"gene_name": "Rergl",
"activity": [
{
"ec_number": "3.6.5.2",
"activity": "GTP + H2O = GDP + H(+) + phosphate.",
"evidence": [
{
"id": "B2RVE2",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/B2RVE2"
}
]
},
{
"ec_number": "3.6.5.2",
"activity": "",
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