{ "uniprot_canonical_ac": "O95831-1", "uniprot_ac": "O95831", "uniprot_id": "AIFM1_HUMAN", "mass": { "chemical_mass": 66901.0, "monoisotopic_mass": 66901.0 }, "refseq": { "ac": "NP_001124318", "name": "apoptosis-inducing factor 1, mitochondrial isoform AIFsh", "summary": "This gene encodes a flavoprotein essential for nuclear disassembly in apoptotic cells, and it is found in the mitochondrial intermembrane space in healthy cells. Induction of apoptosis results in the translocation of this protein to the nucleus where it affects chromosome condensation and fragmentation. In addition, this gene product induces mitochondria to release the apoptogenic proteins cytochrome c and caspase-9. Mutations in this gene cause combined oxidative phosphorylation deficiency 6 (COXPD6), a severe mitochondrial encephalomyopathy, as well as Cowchock syndrome, also known as X-linked recessive Charcot-Marie-Tooth disease-4 (CMTX-4), a disorder resulting in neuropathy, and axonal and motor-sensory defects with deafness and cognitive disability. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 10. [provided by RefSeq, Aug 2015].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001124318" }, "gene_names": [ { "name": "AIFM1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O95831", "id": "O95831" }, { "name": "AIF; AUNX1; CMT2D; CMTX4; COWCK; COXPD6; DFNX5; NADMR; NAMSD; PDCD8; SEMDHL", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001124318", "id": "NP_001124318" }, { "name": "AIFM1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001124318", "id": "NP_001124318" }, { "name": "AIF", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O95831", "id": "O95831" }, { "name": "PDCD8", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O95831", "id": "O95831" } ], "protein_names": [ { "name": "Apoptosis-inducing factor 1, mitochondrial", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O95831" }, { "name": "1.6.99.-", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95831" }, { "name": "Programmed cell death protein 8", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95831" }, { "name": "apoptosis-inducing factor 1, mitochondrial isoform AIFsh", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001124318", "id": "NP_001124318" }, { "name": "programmed cell death 8 (apoptosis-inducing factor); apoptosis-inducing factor 1, mitochondrial; striatal apoptosis-inducing factor; apoptosis-inducing factor, mitochondrion-associated, 1; testicular secretory protein Li 4; auditory neuropathy, X-linked recessive 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001124318", "id": "NP_001124318" } ], "function": [ { "annotation": "AIF short (AIFsh), a new pro-apoptotic isoform of AIF, reveals that the first N-terminal 352 amino acids of AIF are not required for its apoptotic activity.", "evidence": [ { "database": "RefSeq", "id": "NP_001124318", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001124318" }, { "database": "PubMed", "id": "16365034", "url": "https://glygen.org/publication/PubMed/16365034" } ] }, { "annotation": "AIFM1 mutation is associated with severe X-linked mitochondrial encephalomyopathy.", "evidence": [ { "database": "RefSeq", "id": "NP_001124318", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001124318" }, { "database": "PubMed", "id": "20362274", "url": "https://glygen.org/publication/PubMed/20362274" } ] }, { "annotation": "Deep Brain Stimulation for the Management of AIFM1-Related Disabling Tremor: A Case Series.", "evidence": [ { "database": "RefSeq", "id": "NP_001124318", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001124318" }, { "database": "PubMed", "id": "36907087", "url": "https://glygen.org/publication/PubMed/36907087" } ] }, { "annotation": "Functions both as NADH oxidoreductase and as regulator of apoptosis (PubMed:20362274, PubMed:23217327, PubMed:17094969, PubMed:33168626). In response to apoptotic stimuli, it is released from the mitochondrion intermembrane space into the cytosol and to the nucleus, where it functions as a proapoptotic factor in a caspase-independent pathway (PubMed:20362274). Release into the cytoplasm is mediated upon binding to poly-ADP-ribose chains (By similarity). The soluble form (AIFsol) found in the nucleus induces 'parthanatos' i.e. caspase-independent fragmentation of chromosomal DNA (PubMed:20362274). Binds to DNA in a sequence-independent manner (PubMed:27178839). Interacts with EIF3G, and thereby inhibits the EIF3 machinery and protein synthesis, and activates caspase-7 to amplify apoptosis (PubMed:17094969). Plays a critical role in caspase-independent, pyknotic cell death in hydrogen peroxide-exposed cells (PubMed:19418225). In contrast, participates in normal mitochondrial metabolism. Plays an important role in the regulation of respiratory chain biogenesis by interacting with CHCHD4 and controlling CHCHD4 mitochondrial import (PubMed:26004228).", "evidence": [ { "database": "UniProtKB", "id": "O95831", "url": "https://www.uniprot.org/uniprot/O95831#function" }, { "database": "PubMed", "id": "23217327", "url": "https://glygen.org/publication/PubMed/23217327" }, { "database": "UniProtKB", "id": "Q9Z0X1", "url": "https://www.uniprot.org/uniprot/Q9Z0X1#function" }, { "database": "PubMed", "id": "19418225", "url": "https://glygen.org/publication/PubMed/19418225" }, { "database": "PubMed", "id": "17094969", "url": "https://glygen.org/publication/PubMed/17094969" }, { "database": "PubMed", "id": "20362274", "url": "https://glygen.org/publication/PubMed/20362274" }, { "database": "PubMed", "id": "27178839", "url": "https://glygen.org/publication/PubMed/27178839" }, { "database": "PubMed", "id": "33168626", "url": "https://glygen.org/publication/PubMed/33168626" }, { "database": "PubMed", "id": "26004228", "url": "https://glygen.org/publication/PubMed/26004228" } ] }, { "annotation": "Has NADH oxidoreductase activity. Does not induce nuclear apoptosis.", "evidence": [ { "database": "UniProtKB", "id": "O95831", "url": "https://www.uniprot.org/uniprot/O95831#function" }, { "database": "PubMed", "id": "16644725", "url": "https://glygen.org/publication/PubMed/16644725" } ] }, { "annotation": "Impaired AIF-CHCHD4 interaction and mitochondrial calcium overload contribute to auditory neuropathy spectrum disorder in patient-iPSC-derived neurons with AIFM1 variant. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001124318", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001124318" }, { "database": "PubMed", "id": "37365177", "url": "https://glygen.org/publication/PubMed/37365177" } ] }, { "annotation": "Newly synthesized AIFM1 determines the hypersensitivity of T lymphocytes to STING activation-induced cell apoptosis.", "evidence": [ { "database": "RefSeq", "id": "NP_001124318", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001124318" }, { "database": "PubMed", "id": "37000625", "url": "https://glygen.org/publication/PubMed/37000625" } ] }, { "annotation": "Pro-apoptotic isoform.", "evidence": [ { "database": "UniProtKB", "id": "O95831", "url": "https://www.uniprot.org/uniprot/O95831#function" }, { "database": "PubMed", "id": "16365034", "url": "https://glygen.org/publication/PubMed/16365034" } ] }, { "annotation": "The cloning and the biochemical characterization of a new isoform named AIF short 2 (AIFsh2)", "evidence": [ { "database": "RefSeq", "id": "NP_001124318", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001124318" }, { "database": "PubMed", "id": "16644725", "url": "https://glygen.org/publication/PubMed/16644725" } ] }, { "annotation": "This gene encodes a flavoprotein essential for nuclear disassembly in apoptotic cells, and it is found in the mitochondrial intermembrane space in healthy cells. Induction of apoptosis results in the translocation of this protein to the nucleus where it affects chromosome condensation and fragmentation. In addition, this gene product induces mitochondria to release the apoptogenic proteins cytochrome c and caspase-9. Mutations in this gene cause combined oxidative phosphorylation deficiency 6 (COXPD6), a severe mitochondrial encephalomyopathy, as well as Cowchock syndrome, also known as X-linked recessive Charcot-Marie-Tooth disease-4 (CMTX-4), a disorder resulting in neuropathy, and axonal and motor-sensory defects with deafness and cognitive disability. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 10. [provided by RefSeq, Aug 2015].", "evidence": [ { "database": "RefSeq", "id": "NP_001124318", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001124318" } ] } ], "disease": [ { "disease_id": "DOID:0110212", "recommended_name": { "id": "DOID:0110212", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110212", "name": "Charcot-Marie-Tooth disease X-linked recessive 4", "description": "A Charcot-Marie-Tooth disease X-linked that has_material_basis_in mutation in the AIFM1 gene on chromosome Xq26." }, "synonyms": [ { "id": "DOID:0110212", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110212", "name": "axonal motor sensory neuropathy with deafness and mental retardation", "description": "" }, { "id": "DOID:0110212", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110212", "name": "CMT4X", "description": "" }, { "id": "DOID:0110212", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110212", "name": "CMTX4", "description": "" }, { "id": "DOID:0110212", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110212", "name": "Cowchock syndrome", "description": "" }, { "id": "DOID:0110212", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110212", "name": "NADMR", "description": "" }, { "id": "DOID:0110212", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110212", "name": "NAMSD", "description": "" }, { "id": "DOID:0110212", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110212", "name": "X-linked Charcot-Marie-Tooth disease type 4", "description": "" }, { "id": "DOID:0110212", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110212", "name": "Charcot-Marie-Tooth disease with deafness and mental retardation", "description": "" }, { "id": "MONDO:0010689", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010689", "name": "Charcot-Marie-Tooth disease X-linked recessive 4", "description": "X-linked Charcot-Marie-Tooth disease type 4 is a rare, genetic, axonal, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the neonatal- to early childhood-onset of severe, slowly progressive, distal muscle weakness and atrophy (in particular of the peroneal group), as well as sensory impairment (with the lower extremities being more affected than the upper extremities), pes cavus, areflexia and hammertoes. Sensorineural hearing loss and cognitive impairment may also be associated. Females are asymptomatic and do not display the phenotype." }, { "id": "MONDO:0010689", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010689", "name": "CMT4X", "description": "" }, { "id": "MONDO:0010689", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010689", "name": "CMTX 4", "description": "" }, { "id": "MONDO:0010689", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010689", "name": "CMTX4", "description": "" }, { "id": "MONDO:0010689", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010689", "name": "COWCK", "description": "" }, { "id": "MONDO:0010689", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010689", "name": "Charcot-Marie-Tooth disease X-linked recessive type 4", "description": "" }, { "id": "MONDO:0010689", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010689", "name": "Charcot-Marie-Tooth disease with deafness and intellectual disability", "description": "" }, { "id": "MONDO:0010689", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010689", "name": "Charcot-Marie-Tooth disease with deafness and mental retardation", "description": "" }, { "id": "MONDO:0010689", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010689", "name": "Charcot-Marie-Tooth disease, X-linked recessive, 4", "description": "" }, { "id": "MONDO:0010689", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010689", "name": "Cowchock syndrome, X-linked recessive", "description": "" }, { "id": "MONDO:0010689", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010689", "name": "NADMR", "description": "" }, { "id": "MONDO:0010689", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010689", "name": "NAMSD", "description": "" }, { "id": "MONDO:0010689", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010689", "name": "X-linked Charcot-Marie-Tooth disease type 4", "description": "" }, { "id": "MONDO:0010689", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010689", "name": "axonal motor sensory neuropathy with deafness and intellectual disability", "description": "" }, { "id": "MONDO:0010689", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010689", "name": "axonal motor sensory neuropathy with deafness and mental retardation", "description": "" }, { "id": "MONDO:0010689", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010689", "name": "cowchock syndrome", "description": "" }, { "id": "MONDO:0010689", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010689", "name": "neuropathy, axonal motor-sensory with deafness and intellectual disability", "description": "" }, { "id": "MONDO:0010689", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010689", "name": "neuropathy, axonal motor-sensory with deafness and mental retardation", "description": "" }, { "id": "MONDO:0010689", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010689", "name": "neuropathy, axonal motor-sensory, with deafness and intellectual disability", "description": "" }, { "id": "MONDO:0010689", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010689", "name": "neuropathy, axonal motor-sensory, with deafness and mental retardation", "description": "" }, { "id": "MIM:310490", "resource": "MIM", "url": "https://www.omim.org/entry/310490", "name": "Charcot-Marie-Tooth disease, X-linked recessive, 4, with or without cerebellar ataxia", "description": "Charcot-Marie-Tooth disease, X-linked recessive, 4, with or without cerebellar ataxia" } ], "evidence": [ { "id": "310490", "database": "MIM", "url": "https://www.omim.org/entry/310490" } ] }, { "disease_id": "DOID:0111502", "recommended_name": { "id": "DOID:0111502", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111502", "name": "combined oxidative phosphorylation deficiency 6", "description": "A combined oxidative phosphorylation deficiency that has_material_basis_in hemizygous mutation in the AIFM1 gene on chromosome Xq26.1." }, "synonyms": [ { "id": "DOID:0111502", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111502", "name": "Mitochondrial encephalomyopathy due to combined oxidative phosphorylation defect 6", "description": "" }, { "id": "DOID:0111502", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111502", "name": "COXPD6", "description": "" }, { "id": "DOID:0111502", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111502", "name": "Mitochondrial encephalomyopathy due to COXPD6", "description": "" }, { "id": "DOID:0111502", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111502", "name": "severe X-linked mitochondrial encephalomyopathy", "description": "" }, { "id": "MONDO:0010437", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010437", "name": "severe X-linked mitochondrial encephalomyopathy", "description": "Severe X-linked mitochondrial encephalomyopathy is an extremely rare mitochondrial respiratory chain disease resulting in a neurodegenerative disorder characterized by psychomotor delay, hypotonia, areflexia, muscle weakness and wasting in the two patients reported to date." }, { "id": "MONDO:0010437", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010437", "name": "combined oxidative phosphorylation deficiency 6, X-linked recessive", "description": "" }, { "id": "MONDO:0010437", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010437", "name": "combined oxidative phosphorylation deficiency type 6", "description": "" }, { "id": "MONDO:0010437", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010437", "name": "mitochondrial encephalomyopathy due to COXPD6", "description": "" }, { "id": "MONDO:0010437", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010437", "name": "mitochondrial encephalomyopathy due to combined oxidative phosphorylation defect 6", "description": "" }, { "id": "MONDO:0010437", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010437", "name": "COXPD6", "description": "" }, { "id": "MONDO:0010437", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010437", "name": "combined oxidative phosphorylation deficiency 6", "description": "" }, { "id": "MONDO:0010437", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010437", "name": "encephalomyopathy, mitochondrial, X-linked", "description": "" }, { "id": "MIM:300816", "resource": "MIM", "url": "https://www.omim.org/entry/300816", "name": "Combined oxidative phosphorylation deficiency 6", "description": "Combined oxidative phosphorylation deficiency 6" } ], "evidence": [ { "id": "300816", "database": "MIM", "url": "https://www.omim.org/entry/300816" } ] }, { "disease_id": "DOID:0111741", "recommended_name": { "id": "DOID:0111741", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111741", "name": "X-linked deafness 5", "description": "A neuropathy characterized by childhood onset of auditory neuropathy and later onset of distal sensory impairment due to diffuse peripheral neuropathy that has_material_basis_in hemizygous or homozygous mutation in the AIFM1 gene on chromosome Xq26.1." }, "synonyms": [ { "id": "DOID:0111741", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111741", "name": "AUNX1", "description": "" }, { "id": "DOID:0111741", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111741", "name": "DFNX5", "description": "" }, { "id": "DOID:0111741", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111741", "name": "X-linked HSAN with deafness", "description": "" }, { "id": "DOID:0111741", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111741", "name": "X-linked auditory neuropathy 1 with peripheral sensory neuropathy", "description": "" }, { "id": "DOID:0111741", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111741", "name": "X-linked auditory neuropathy with peripheral sensory neuropathy type 1", "description": "" }, { "id": "MONDO:0010378", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010378", "name": "X-linked hereditary sensory and autonomic neuropathy with hearing loss", "description": "This syndrome is characterized by the association of an axonal sensory and autonomic neuropathy with hearing loss." }, { "id": "MONDO:0010378", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010378", "name": "X-linked auditory neuropathy with peripheral sensory neuropathy type 1", "description": "" }, { "id": "MONDO:0010378", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010378", "name": "X-linked HSAN with deafness", "description": "" }, { "id": "MONDO:0010378", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010378", "name": "X-linked hereditary sensory and autonomic neuropathy with deafness", "description": "" }, { "id": "MONDO:0010378", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010378", "name": "deafness, X-linked 5, X-linked recessive", "description": "" }, { "id": "MONDO:0010378", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010378", "name": "DFNX5", "description": "" }, { "id": "MONDO:0010378", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010378", "name": "auditory neuropathy, X-linked, 1, with peripheral sensory neuropathy", "description": "" }, { "id": "MONDO:0010378", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010378", "name": "deafness, X-linked 5", "description": "" }, { "id": "MIM:300614", "resource": "MIM", "url": "https://www.omim.org/entry/300614", "name": "Deafness, X-linked, 5, with peripheral neuropathy", "description": "Deafness, X-linked, 5, with peripheral neuropathy" } ], "evidence": [ { "id": "300614", "database": "MIM", "url": "https://www.omim.org/entry/300614" } ] }, { "disease_id": "MONDO:0010275", "recommended_name": { "id": "MONDO:0010275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010275", "name": "spondyloepimetaphyseal dysplasia, Bieganski type", "description": "A rare genetic neurological disorder characterized by the association of hypomyelinating leukodystrophy with spondylometaphyseal dysplasia. Patients present in infancy with absent or delayed ability to walk independently, slowly progressive motor deterioration, spasticity, ataxia, proximal weakness, and joint contractures. Additional manifestations include mild cognitive impairment, short stature, scoliosis, enlarged and deformed joints, dysarthria, nystagmus, visual defects, and mildly dysmorphic features, among others. Mode of inheritance is X-linked recessive." }, "synonyms": [ { "id": "MONDO:0010275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010275", "name": "H-SMD", "description": "" }, { "id": "MONDO:0010275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010275", "name": "hypomyelination-spondyloepimetaphyseal dysplasia syndrome", "description": "" }, { "id": "MONDO:0010275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010275", "name": "leukoencephalopathy-SEMD syndrome", "description": "" }, { "id": "MONDO:0010275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010275", "name": "leukoencephalopathy-metaphyseal chondrodysplasia syndrome", "description": "" }, { "id": "MONDO:0010275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010275", "name": "spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy, X-linked recessive", "description": "" }, { "id": "MONDO:0010275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010275", "name": "LKMCD", "description": "" }, { "id": "MONDO:0010275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010275", "name": "SEMD X-linked with mental deterioration", "description": "" }, { "id": "MONDO:0010275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010275", "name": "SEMD, X-linked, with mental deterioration", "description": "" }, { "id": "MONDO:0010275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010275", "name": "leukoencephalopathy with metaphyseal chondrodysplasia", "description": "" }, { "id": "MONDO:0010275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010275", "name": "spondyloepimetaphyseal dysplasia X-linked with mental deterioration", "description": "" }, { "id": "MONDO:0010275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010275", "name": "spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration", "description": "" }, { "id": "MIM:300232", "resource": "MIM", "url": "https://www.omim.org/entry/300232", "name": "Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy", "description": "Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy" } ], "evidence": [ { "id": "300232", "database": "MIM", "url": "https://www.omim.org/entry/300232" } ] } ], "snv": [ { "evidence": [ { "id": "O95831", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O95831" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 295, "end_pos": 295, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "K", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (KIS->NIS).", "chr_id": "X", "chr_pos": "130138675", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "K295", "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 - 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Lower efficiency in stabilizing charge-transfer complexes upon coenzyme reduction.", "evidence": [ { "database": "UniProtKB", "id": "O95831", "url": "https://www.uniprot.org/uniprot/O95831" }, { "database": "PubMed", "id": "24914854", "url": "https://glygen.org/publication/PubMed/24914854" } ] }, { "start_pos": 443, "end_pos": 445, "sequence_org": "YDI", "sequence_mut": "ADA", "comment": "Disrupts dimerization. Disrupts dimerization; when associated with A-477.", "evidence": [ { "database": "UniProtKB", "id": "O95831", "url": "https://www.uniprot.org/uniprot/O95831" }, { "database": "PubMed", "id": "27818101", "url": "https://glygen.org/publication/PubMed/27818101" } ] }, { "start_pos": 454, "end_pos": 454, "sequence_org": "H", "sequence_mut": "A", "comment": "Allows dimerization in absence of NADH.", "evidence": [ { "database": "UniProtKB", "id": "O95831", "url": "https://www.uniprot.org/uniprot/O95831" }, { "database": "PubMed", "id": "27818101", "url": "https://glygen.org/publication/PubMed/27818101" } ] }, { "start_pos": 477, "end_pos": 477, "sequence_org": "W", "sequence_mut": "A", "comment": "Disrupts dimerization; when associated with A-443--445-A.", "evidence": [ { "database": "UniProtKB", "id": "O95831", "url": "https://www.uniprot.org/uniprot/O95831" }, { "database": "PubMed", "id": "27818101", "url": "https://glygen.org/publication/PubMed/27818101" } ] }, { "start_pos": 480, "end_pos": 480, "sequence_org": "S", "sequence_mut": "A", "comment": "Allows dimerization in absence of NADH.", "evidence": [ { "database": "UniProtKB", "id": "O95831", "url": "https://www.uniprot.org/uniprot/O95831" }, { "database": "PubMed", "id": "27818101", "url": "https://glygen.org/publication/PubMed/27818101" } ] }, { "start_pos": 485, "end_pos": 485, "sequence_org": "D", "sequence_mut": "A", "comment": "Increases protein dimerization at lower NADH levels.", "evidence": [ { "database": "UniProtKB", "id": "O95831", "url": "https://www.uniprot.org/uniprot/O95831" }, { "database": "PubMed", "id": "27818101", "url": "https://glygen.org/publication/PubMed/27818101" } ] }, { "start_pos": 529, "end_pos": 529, "sequence_org": "R", "sequence_mut": "A", "comment": "Increases protein dimerization at lower NADH levels.", "evidence": [ { "database": "UniProtKB", "id": "O95831", "url": "https://www.uniprot.org/uniprot/O95831" }, { "database": "PubMed", "id": "27818101", "url": "https://glygen.org/publication/PubMed/27818101" } ] }, { "start_pos": 531, "end_pos": 531, "sequence_org": "E", "sequence_mut": "A", "comment": "Increases protein dimerization at lower NADH levels.", "evidence": [ { "database": "UniProtKB", "id": "O95831", "url": "https://www.uniprot.org/uniprot/O95831" }, { "database": "PubMed", "id": "27818101", "url": "https://glygen.org/publication/PubMed/27818101" } ] }, { "start_pos": 533, "end_pos": 533, "sequence_org": "E", "sequence_mut": "A", "comment": "Increases protein dimerization at lower NADH levels.", "evidence": [ { "database": "UniProtKB", "id": "O95831", "url": "https://www.uniprot.org/uniprot/O95831" }, { "database": "PubMed", "id": "27818101", "url": "https://glygen.org/publication/PubMed/27818101" } ] }, { "start_pos": 535, "end_pos": 535, "sequence_org": "E", "sequence_mut": "A", "comment": "Increases protein dimerization at lower NADH levels.", "evidence": [ { "database": "UniProtKB", "id": "O95831", "url": "https://www.uniprot.org/uniprot/O95831" }, { "database": "PubMed", "id": "27818101", "url": "https://glygen.org/publication/PubMed/27818101" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "95.82", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000156709", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000156709" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "74.8", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000156709", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000156709" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "88.51", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000156709", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000156709" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "66.63", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000156709", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000156709" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "90.21", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000156709", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000156709" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "95.08", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000156709", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000156709" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "86.76", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000156709", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000156709" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "84.76", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000156709", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000156709" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "85.65", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000156709", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000156709" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "72.23", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000156709", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000156709" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "92.97", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000156709", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000156709" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "88.29", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000156709", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000156709" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "87.65", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000156709", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000156709" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O95831", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95831" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": 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mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": 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"https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", 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"MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL 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"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, 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"http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - 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"name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", 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"DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" 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"https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "No", "trend": "down", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "O95831", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95831" } ], "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": "O95831", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95831" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "O95831", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95831" } ], "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "No", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O95831", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95831" } ], "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": "No", "trend": "down", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "O95831", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95831" } ], "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": "O95831", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95831" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "O95831", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95831" } ], "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": 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"neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "O95831", "url": "https://oglcnac.org/atlas/detail/O95831", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "O95831", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O95831", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "EVRYERC", "url": "https://omabrowser.org/oma/group/EVRYERC/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "74731at2759", "url": "http://www.orthodb.org/?query=74731at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR43557", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR43557", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR43557:SF4", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR43557:SF4", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "1M6I", "url": "https://www.rcsb.org/structure/1M6I", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4BUR", "url": "https://www.rcsb.org/structure/4BUR", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4BV6", "url": "https://www.rcsb.org/structure/4BV6", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4FDC", "url": "https://www.rcsb.org/structure/4FDC", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4LII", "url": "https://www.rcsb.org/structure/4LII", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5FMH", "url": "https://www.rcsb.org/structure/5FMH", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5FS6", "url": "https://www.rcsb.org/structure/5FS6", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5FS7", "url": "https://www.rcsb.org/structure/5FS7", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5FS8", "url": "https://www.rcsb.org/structure/5FS8", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5FS9", "url": "https://www.rcsb.org/structure/5FS9", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5KVH", "url": "https://www.rcsb.org/structure/5KVH", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5KVI", "url": "https://www.rcsb.org/structure/5KVI", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF07992", "url": "http://pfam.xfam.org/family/PF07992", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF14721", "url": "http://pfam.xfam.org/family/PF14721", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O95831", "url": "https://pharos.nih.gov/targets/O95831", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O95831", "url": "http://purl.obolibrary.org/obo/PR_O95831", "database": "PRO", "categories": [ "Protein" ] }, { "id": "NP_001124318", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001124318", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "11356", "url": "https://www.rhea-db.org/rhea/11356", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "A0A6Q8PF87", "url": "https://www.uniprot.org/uniprot/A0A6Q8PF87", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PF87-1", "url": "https://www.uniprot.org/uniprot/A0A6Q8PF87-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PFA7", "url": "https://www.uniprot.org/uniprot/A0A6Q8PFA7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PFA7-1", "url": "https://www.uniprot.org/uniprot/A0A6Q8PFA7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PFE1", "url": "https://www.uniprot.org/uniprot/A0A6Q8PFE1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PFE1-1", "url": "https://www.uniprot.org/uniprot/A0A6Q8PFE1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PFM5", "url": "https://www.uniprot.org/uniprot/A0A6Q8PFM5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PFM5-1", "url": "https://www.uniprot.org/uniprot/A0A6Q8PFM5-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PFN1", "url": "https://www.uniprot.org/uniprot/A0A6Q8PFN1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PFN1-1", "url": "https://www.uniprot.org/uniprot/A0A6Q8PFN1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PFQ8", "url": "https://www.uniprot.org/uniprot/A0A6Q8PFQ8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PFQ8-1", "url": "https://www.uniprot.org/uniprot/A0A6Q8PFQ8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PFS4", "url": "https://www.uniprot.org/uniprot/A0A6Q8PFS4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PFS4-1", "url": "https://www.uniprot.org/uniprot/A0A6Q8PFS4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PFW2", "url": "https://www.uniprot.org/uniprot/A0A6Q8PFW2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PFW2-1", "url": "https://www.uniprot.org/uniprot/A0A6Q8PFW2-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PG15", "url": "https://www.uniprot.org/uniprot/A0A6Q8PG15", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PG15-1", "url": "https://www.uniprot.org/uniprot/A0A6Q8PG15-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PGB7", "url": "https://www.uniprot.org/uniprot/A0A6Q8PGB7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PGB7-1", "url": "https://www.uniprot.org/uniprot/A0A6Q8PGB7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PHC0", "url": "https://www.uniprot.org/uniprot/A0A6Q8PHC0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PHC0-1", "url": "https://www.uniprot.org/uniprot/A0A6Q8PHC0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PHJ4", "url": "https://www.uniprot.org/uniprot/A0A6Q8PHJ4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PHJ4-1", "url": "https://www.uniprot.org/uniprot/A0A6Q8PHJ4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PHJ9", "url": "https://www.uniprot.org/uniprot/A0A6Q8PHJ9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PHJ9-1", "url": "https://www.uniprot.org/uniprot/A0A6Q8PHJ9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7I2PK44", "url": "https://www.uniprot.org/uniprot/A0A7I2PK44", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7I2PK44-1", "url": "https://www.uniprot.org/uniprot/A0A7I2PK44-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7I2RLJ8", "url": "https://www.uniprot.org/uniprot/A0A7I2RLJ8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7I2RLJ8-1", "url": "https://www.uniprot.org/uniprot/A0A7I2RLJ8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PMA0", "url": "https://www.uniprot.org/uniprot/E9PMA0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PMA0-1", "url": "https://www.uniprot.org/uniprot/E9PMA0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PMQ8", "url": "https://www.uniprot.org/uniprot/E9PMQ8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PMQ8-1", "url": "https://www.uniprot.org/uniprot/E9PMQ8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O95831", "url": "https://www.uniprot.org/uniprot/O95831", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O95831-1", "url": "https://www.uniprot.org/uniprot/O95831-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O95831-2", "url": "https://www.uniprot.org/uniprot/O95831-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O95831-3", "url": "https://www.uniprot.org/uniprot/O95831-3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O95831-4", "url": "https://www.uniprot.org/uniprot/O95831-4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O95831-5", "url": "https://www.uniprot.org/uniprot/O95831-5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O95831-6", "url": "https://www.uniprot.org/uniprot/O95831-6", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MFRCGGLAAGALKQKLVPLVRTVCVRSPRQRNRLPGNLFQRWHVPLELQMTRQMASSGASGGKIDNSVLVLIVGLSTVGAGAYAYKTMKEDEKRYNERISGLGLTPEQKQKKAALSASEGEEVPQDKAPSHVPFLLIGGGTAAFAAARSIRARDPGARVLIVSEDPELPYMRPPLSKELWFSDDPNVTKTLRFKQWNGKERSIYFQPPSFYVSAQDLPHIENGGVAVLTGKKVVQLDVRDNMVKLNDGSQITYEKCLIATGGTPRSLSAIDRAGAEVKSRTTLFRKIGDFRSLEKISREVKSITIIGGGFLGSELACALGRKARALGTEVIQLFPEKGNMGKILPEYLSNWTMEKVRREGVKVMPNAIVQSVGVSSGKLLIKLKDGRKVETDHIVAAVGLEPNVELAKTGGLEIDSDFGGFRVNAELQARSNIWVAGDAACFYDIKLGRRRVEHHDHAVVSGRLAGENMTGAAKPYWHQSMFWSDLGPDVGYEAIGLVDSSLPTVGVFAKATAQDNPKSATEQSGTGIRSESETESEASEITIPPSTPAVPQAPVQGEDYGKGVIFYLRDKVVVGIVLWNIFNRMPIARKIIKDGEQHEDLNEVAKLFNIHED", "length": 613, "header": "sp|O95831-1|AIFM1_HUMAN Isoform 1 of Apoptosis-inducing factor 1, mitochondrial OS=Homo sapiens OX=9606 GN=AIFM1 PE=1 SV=1 CANONICAL=O95831-1" }, "isoforms": [ { "isoform_ac": "A0A6Q8PF87-1", "url": "", "sequence": { "sequence": "MFRCGGLAAGALKQKLVPLVRTVCVRSPRQRNRLPGNLFQRWHVPLELQMTRQMASSGASGGKIDNSVLVLIVGLSTVGAGAYAYKTMKEDEKRYNERISGLGLTPEQKQKKAALSASEGEEVPQDKAPSHVPFLLIGGGTAAFAAARSIRARDPGARVLIVSEDPELPYMRPPLSKELWFSDDPNVTKTLRFKQWNGKERSIYFQPPSFYVSAQDLPHIENGGVAVLTGKKEVLQEVCLPLIGLEQR", "length": 248, "header": "tr|A0A6Q8PF87-1|A0A6Q8PF87_HUMAN Computationally mapped isoform of Apoptosis inducing factor mitochondria associated 1 OS=Homo sapiens OX=9606 GN=AIFM1 PE=1 SV=1 CANONICAL=O95831-1" }, "locus": { "chromosome": "X", "start_pos": 130165656, "end_pos": 130139824, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000674722.1", "url": "https://www.ensembl.org/id/ENST00000674722.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000501693.1", "url": "https://www.ensembl.org/id/ENSP00000501693.1" } ] } }, { "isoform_ac": "A0A6Q8PFA7-1", "url": "", "sequence": { "sequence": "MFRCGGLAAGALKQKLVPLVRTVCVRSPRQRNRLPGNLFQRWHVPLELQMTRQMASSGASGGKIDNSVLVLIVGLSTVGAGAYAYKTMKEDEKRYNERISGLGLTPEQKQKKAALSASEGEEVPQDKAPSHVPFLLIGGGTAAFAAARSIRARDPGARVLIVSEDPELPYMRPPLSKELWFSDDPNVTKTLRFKQWNGKERSIYFQPPSFYVSAQDLPHIENGGVAVLTGKKVVQLDVRDNMVKLNDGSQITYEKCLIATGGTPRSLSAIDRAGAEVKSRTTLFRKIGDFRSLEKISREVKSITIIGGGFLGSELACALGRKARALGTEVIQLFPEKGNMGKILPEYLSNWTMEKVRREGVKVMPNAIVQSVGVSSGKLLIKLKDGRKVETDHIVAAVGLEPNVELAKTGGLEIDSDFGGFRVNAELQARSNIWVAGDAACFYDIKLGRRRVEHHDHAVE", "length": 460, "header": "tr|A0A6Q8PFA7-1|A0A6Q8PFA7_HUMAN Computationally mapped isoform of Apoptosis inducing factor mitochondria associated 1 OS=Homo sapiens OX=9606 GN=AIFM1 PE=1 SV=1 CANONICAL=O95831-1" }, "locus": { "chromosome": "X", "start_pos": 130165656, "end_pos": 130131797, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000675037.1", "url": "https://www.ensembl.org/id/ENST00000675037.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000501724.1", "url": "https://www.ensembl.org/id/ENSP00000501724.1" } ] } }, { "isoform_ac": "A0A6Q8PFE1-1", "url": "", "sequence": { "sequence": "MFRCGGLAAGALKQKLVPLVRTVCVRSPRQRNRLPGNLFQRWHVPLELQMTRQMASSGASGGKIDNSVLVLIVGLSTVGAGAYAYKTMKEDEKRYNERISGLGLTPEQKQKKAALSASEGEEVPQDKAPSHVPFLLIGGGTAAFAAARSIRARDPGARVLIVSEDPELPYMRPPLSKELWFSDDPNVTKTLRFKQWNGKERSIYFQPPSFYVSAQDLPHIENGGVAVLTGKKVVQLDVRDNMVKLNDGSQITYEKCLIATGGTPRSLSAIDRAGAEVKSRTTLFRKIGDFRSLEKISREVKSITIIGGGFLGSELACALGRKARALGTEVIQLFPEKGNMGKILPEYLSNWTMEKVRREGVKVMPNAIVQSVGVSSGKLLIKLKDGRKVETDHIVAAVGLEPNVELAKTGGLEIDSDFGGFRVNAELQARSNIWVAGDAACFYDIKLGRRRVEHHDHAVVSGRLAGENMTGAAKPYWHQSMFWSDLGPDVGYEAIGLVDSSLPTVGVFAKATAQDNPKSATEQSVYLFWGLATGTGIRSESETESEASEITIPPSTPAVPQAPVQGEDYGKGVIFYLRDKVVVGIVLWNIFNRMPIARKIIKDGEQHEDLNEVAKLFNIHED", "length": 622, "header": "tr|A0A6Q8PFE1-1|A0A6Q8PFE1_HUMAN Computationally mapped isoform of Apoptosis inducing factor mitochondria associated 1 OS=Homo sapiens OX=9606 GN=AIFM1 PE=1 SV=1 CANONICAL=O95831-1" }, "locus": { "chromosome": "X", "start_pos": 130165656, "end_pos": 130129560, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000675092.1", "url": "https://www.ensembl.org/id/ENST00000675092.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000501772.1", "url": "https://www.ensembl.org/id/ENSP00000501772.1" } ] } }, { "isoform_ac": "A0A6Q8PFM5-1", "url": "", "sequence": { "sequence": "MFRCGGLAAGALKQKLVPLVRTVCVRSPRQRNRLPGNLFQRWHVPLELQMTRQMASSGASGGKIDNSVLVLIVGLSTVGAGAYAYKTMKEDEKRYNERISGLGLTPEQKQKKAALSASEGEEVPQDKAPSHVPFLLIGGGTAAFAAARSIRARDPGARVLIVSEDPELPYMRPPLSKELWFSDDPNVTKTLRFKQWNGKERSIYFQPPSFYVSAQDLPHIENGGVAVLTGKKVVQLDVRDNMVKLNDGSQITYEKCLIATGGTPRSLSAIDRAGAEVKSRTTLFRKIGDFRSLEKISREVKSITIIGGGFLGSELACALGRKARALGTEVIQLFPEKGNMGKILPEYLSNWTMEKVRREGVKVMPNAIVQSVGVSSGKLLIKLKDGRKVETDHIVAAVGLEPNVELAKTGGLEIDSDFGGFRVNAELQARSNIWAGDAACFYDIKLGRRRVEHHDHAVVSGRLAGENMTGAAKPYWHQSMFWSDLGPDVGYEAIGLVDSSLPTVGVFAKATAQDNPKSATEQSGTGIRSESETESEASEITIPPSTPAVPQAPVQGEDYGKGVIFYLRDKVVVGIVLWNIFNRMPIARKIIKDGEQHEDLNEVAKLFNIHED", "length": 612, "header": "tr|A0A6Q8PFM5-1|A0A6Q8PFM5_HUMAN Computationally mapped isoform of Apoptosis inducing factor mitochondria associated 1 OS=Homo sapiens OX=9606 GN=AIFM1 PE=1 SV=1 CANONICAL=O95831-1" }, "locus": { "chromosome": "X", "start_pos": 130165656, "end_pos": 130129560, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000675427.1", "url": "https://www.ensembl.org/id/ENST00000675427.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000501880.1", "url": "https://www.ensembl.org/id/ENSP00000501880.1" } ] } }, { "isoform_ac": "A0A6Q8PFN1-1", "url": "", "sequence": { "sequence": "XNERISGLGLTPEQKQKKAALSVAKNHLRLQEDSSSLFCCFQLQKERKFLKTRRQVMFLSC", "length": 61, "header": "tr|A0A6Q8PFN1-1|A0A6Q8PFN1_HUMAN Computationally mapped isoform of Apoptosis inducing factor mitochondria associated 1 OS=Homo sapiens OX=9606 GN=AIFM1 PE=1 SV=1 CANONICAL=O95831-1" }, "locus": { "chromosome": "X", "start_pos": 130149533, "end_pos": 130147818, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000676144.1", "url": "https://www.ensembl.org/id/ENST00000676144.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000501890.1", "url": "https://www.ensembl.org/id/ENSP00000501890.1" } ] } }, { "isoform_ac": "A0A6Q8PFQ8-1", "url": "", "sequence": { "sequence": "MFRCGGLAAGALKQKLVPLVRTVCVRSPRQRNRLPGNLFQRWHVPLELQMTRQMASSGASGGKIDNSVLVLIVGLSTVGAGAYAYKTMKEDEKRYNERISGLGLTPEQKQKKAALSASEGEEVPQDKAPSHVPFLLIGGGTAAFAAARSIRARDPGARVLIVSEDPELPYMRPPLSKELWFSDDPNVTKTLRFKQWNGKERSIYFQPPSFYVSAQDLPHIENGGVAVLTGKKVVQLDVRDNMVKLNDGSQITYEKCLIATGGTPRSLSAIDRAGAEVKSRTTLFRKIGDFRSLEKISREVKSITIIGGGFLGSELACALGRKARALGTEVIQLFPEKGNMGKILPEYLSNWTMEKVRREGVKVMPNAIVQSVGVSSGKLLIKLKDGRKVETDHIVAAVGLEPNVELAKTGGLEIDSDFGGFRVNAELQARSNIWVAGDAACFYDIKLGRRRVEHHDHAVVSGRLAGENMTGAAKPYWHQSMFWSDLGPDVGYEAIGLVDSSLPTVGVFAKATAQDNPKSATEQSAPRQFHRLPSRGRTTAKVSSSTSGTKWSWGLCYGTSLTECQ", "length": 565, "header": "tr|A0A6Q8PFQ8-1|A0A6Q8PFQ8_HUMAN Computationally mapped isoform of Apoptosis inducing factor mitochondria associated 1 OS=Homo sapiens OX=9606 GN=AIFM1 PE=1 SV=1 CANONICAL=O95831-1" }, "locus": { "chromosome": "X", "start_pos": 130165656, "end_pos": 130129981, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000675240.1", "url": "https://www.ensembl.org/id/ENST00000675240.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000501907.1", "url": "https://www.ensembl.org/id/ENSP00000501907.1" } ] } }, { "isoform_ac": "A0A6Q8PFS4-1", "url": "", "sequence": { "sequence": "MFRCGGLAAGALKQKLVPLVRTVCVRSPRQRNRLPGNLFQRWHVPLELQMTRQMASSGASGGKIDNSVLVLIVGLSTVGAGAYAYKTMKEDEKRYNERISGLGLTPEQKQKKAALSASEGEEVPQDKAPSHVPFLLIGGGTAAFAAARSIRARDPGARVLIVSEDPELPYMRPPLSKELWFSDDPNVTKTLRFKQWNGKERSIYFQPPSFYVSAQDLPHIENGGVAVLTGKKVVQLDVRDNMVKLNDGSQITYEKCLIATGGTPRSLSAIDRAGAEVKSRTTLFRKIGDFRSLEKISREVKSITIIGGGFLGSELACALGRKARALGTEVIQLFPEKGNMGKILPEYLSNWTMEKVRREGVKVMPNAIVQSVGVSSGKLLIKLKDGRKVETDHIVAAVGLEPNVELAKTGGLEIDSDFGGFRVNAELQARSNIWVAGDAACFYDIKLGRRRVEHHDHAVVSGRLAGENMTGAAKPYWHQSMFWSDLGPDVGYEAIGLVDSSLPTVGVFAKATAQDNPKSATEQSGKKELVSDQRVRQSPRPQKLLFLPAPRQFHRLPSRGRTTAKVSSSTSGTKWSWGLCYGTSLTECQ", "length": 589, "header": "tr|A0A6Q8PFS4-1|A0A6Q8PFS4_HUMAN Computationally mapped isoform of Apoptosis inducing factor mitochondria associated 1 OS=Homo sapiens OX=9606 GN=AIFM1 PE=1 SV=1 CANONICAL=O95831-1" }, "locus": { "chromosome": "X", "start_pos": 130165656, "end_pos": 130129981, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000674546.1", "url": "https://www.ensembl.org/id/ENST00000674546.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000501950.1", "url": "https://www.ensembl.org/id/ENSP00000501950.1" } ] } }, { "isoform_ac": "A0A6Q8PFW2-1", "url": "", "sequence": { "sequence": "XGLGLTPEQKQKKAALSASEGEEVPQDKAPSHVPFLLIGGGTAAFAAARSIRARDPGARVLIVSEDPELPYMRPPLSKELWFSDDPNVTKTLRFKQWNGKERSIYFQPPSFYVSAQDLPHIENGGVAVLTGKKVVQLDVRDNMVKLNDGSQITYEKCLIATGGTPRSLSAIDRAGAEVKSRTTLFRKIGDFRSLEKISREVKSITIIGGGFLGSELACALGRKARALGTEVIQLFPEKGNMGKILPEYLSNWTMEKVRREGVKVMPNAIVQSVGVSSGKLLIKLKDGRKKLTT", "length": 293, "header": "tr|A0A6Q8PFW2-1|A0A6Q8PFW2_HUMAN Computationally mapped isoform of Apoptosis inducing factor mitochondria associated 1 OS=Homo sapiens OX=9606 GN=AIFM1 PE=1 SV=1 CANONICAL=O95831-1" }, "locus": { "chromosome": "X", "start_pos": 130149518, "end_pos": 130136168, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000674957.1", "url": "https://www.ensembl.org/id/ENST00000674957.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000501985.1", "url": "https://www.ensembl.org/id/ENSP00000501985.1" } ] } }, { "isoform_ac": "A0A6Q8PG15-1", "url": "", "sequence": { "sequence": "MFRCGGLAAGALKQKLVPLVRTVCVRSPRQRNRLPGNLFQRWHVPLELQMTRQMASSGASGGKIDNSVLVLIVGLSTVGAGAYAYKTMKEDEKRYNERISGLGLTPEQKQKKAALSASEGEEVPQDKAPSHVPFLLIGGGTAAFAAARSIRARDPGARVLIVSEDPELPYMRPPLSKELWFSDDPNVTKTLRFKQWNGKERSIYFQPPSFYVSAQDLPHIENGGVAVLTGKKVVQLDVRDNMVKLNDGSQITYEKCLIATGTPRSLSAIDRAGAEVKSRTTLFRKIGDFRSLEKISREVKSITIIGGGFLGSELACALGRKARALGTEVIQLFPEKGNMGKILPEYLSNWTMEKVRREGVKVMPNAIVQSVGVSSGKLLIKLKDGRKVETDHIVAAVGLEPNVELAKTGGLEIDSDFGGFRVNAELQARSNIWVAGDAACFYDIKLGRRRVEHHDHAVVSGRLAGENMTGAAKPYWHQSMFWSDLGPDVGYEAIGLVDSSLPTVGVFAKATAQDNPKSATEQSGTGIRSESETESEASEITIPPSTPAVPQAPVQGEDYGKGVIFYLRDKVVVGIVLWNIFNRMPIARKIIKDGEQHEDLNEVAKLFNIHED", "length": 612, "header": "tr|A0A6Q8PG15-1|A0A6Q8PG15_HUMAN Computationally mapped isoform of Apoptosis inducing factor mitochondria associated 1 OS=Homo sapiens OX=9606 GN=AIFM1 PE=1 SV=1 CANONICAL=O95831-1" }, "locus": { "chromosome": "X", "start_pos": 130165656, "end_pos": 130129560, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000676328.1", "url": "https://www.ensembl.org/id/ENST00000676328.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000502068.1", "url": "https://www.ensembl.org/id/ENSP00000502068.1" } ] } }, { "isoform_ac": "A0A6Q8PGB7-1", "url": "", "sequence": { "sequence": "MFRCGGLAAGALKQKLVPLVRTVCVRSPRQRNRLPGNLFQRWHVPLELQMTRQMASSGASGGKIDNSVLVLIVGLSTVGAGAYEQQSLGQEFIMPTRL", "length": 98, "header": "tr|A0A6Q8PGB7-1|A0A6Q8PGB7_HUMAN Computationally mapped isoform of Apoptosis inducing factor mitochondria associated 1 OS=Homo sapiens OX=9606 GN=AIFM1 PE=4 SV=1 CANONICAL=O95831-1" }, "locus": { "chromosome": "X", "start_pos": 130165656, "end_pos": 130149556, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000674555.1", "url": "https://www.ensembl.org/id/ENST00000674555.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000502183.1", "url": "https://www.ensembl.org/id/ENSP00000502183.1" } ] } }, { "isoform_ac": "A0A6Q8PHC0-1", "url": "", "sequence": { "sequence": "MFRCGGLAAGALKQKLVPLVRTVCVRSPRQRNRLPGNLFQRWHVPLELQMTRQMASSGASGGKIDNSVLVLIVGLSTVGAGAYAYKTMKEDEKRYNERISGLGLTPEQKQKKAALSEGEEVPQDKAPSHVPFLLIGGGTAAFAAARSIRARDPGARVLIVSEDPELPYMRPPLSKELWFSDDPNVTKTLRFKQWNGKERSIYFQPPSFYVSAQDLPHIENGGVAVLTGKKVVQLDVRDNMVKLNDGSQITYEKCLIATGGTPRSLSAIDRAGAEVKSRTTLFRKIGDFRSLEKISREVKSITIIGGGFLGSELACALGRKALGTEVIQLFPEKGNMGKILPEYLSNWTMEKVRREGVKVMPNAIVQSVGVSSGKLLIKLKDGRKVETDHIVAAVGLEPNVELAKTGGLEIDSDFGGFRVNAELQARSNIWVAGDAACFYDIKLGRRRVEHHDHAVVSGRLAGENMTGAAKPYWHQSMFWSDLGPDVGYEAIGLVDSSLPTVGVFAKATAQDNPKSATEQSGTGIRSESETESEASEITIPPSTPAVPQAPVQGEDYGKGVIFYLRDKVVVGIVLWNIFNRMPIARKIIKDGEQHEDLNEVAKLFNIHED", "length": 609, "header": "tr|A0A6Q8PHC0-1|A0A6Q8PHC0_HUMAN Computationally mapped isoform of Apoptosis inducing factor mitochondria associated 1 OS=Homo sapiens OX=9606 GN=AIFM1 PE=1 SV=1 CANONICAL=O95831-1" }, "locus": { "chromosome": "X", "start_pos": 130165656, "end_pos": 130129560, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000676436.1", "url": "https://www.ensembl.org/id/ENST00000676436.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000502669.1", "url": "https://www.ensembl.org/id/ENSP00000502669.1" } ] } }, { "isoform_ac": "A0A6Q8PHJ4-1", "url": "", "sequence": { "sequence": "XNMGKILPEYLSNWTMEKVRREGVKVMPNAIVQSVGVSSGKLLIKLKDGRKAGDAACFYDIKLGRRRVEHHDHAVVSGRLAGENMTGAAKPYWHQSMFWSDLGPDVGYEAIGLVDSSLPTVGVFAKATAQDNPKSATEQSGTGIRSESETESEASEITIPPSTPAVPQAPVQGEDYGKGVIFYLRDKVVVGIVLWNIFNRMPIARKIIKDGEQHEDLNEVAKLFNIHED", "length": 229, "header": "tr|A0A6Q8PHJ4-1|A0A6Q8PHJ4_HUMAN Computationally mapped isoform of Apoptosis inducing factor mitochondria associated 1 OS=Homo sapiens OX=9606 GN=AIFM1 PE=1 SV=1 CANONICAL=O95831-1" }, "locus": { "chromosome": "X", "start_pos": 130137140, "end_pos": 130129559, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000674601.1", "url": "https://www.ensembl.org/id/ENST00000674601.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000502764.1", "url": "https://www.ensembl.org/id/ENSP00000502764.1" } ] } }, { "isoform_ac": "A0A6Q8PHJ9-1", "url": "", "sequence": { "sequence": "MFRCGGLAAGALKQKLVPLVRTVCVRSPRQRNRLPGNLFQRWHVPLELQMTRQMASSGASGGKIDNSVLVLIVGLSTVGAGAYAYKTMKEDEKRYNERISGLGLTPEQKQKKAALSEGEEVPQDKAPSHVPFLLIGGGTAAFAAARSIRARDPGARVLIVSEDPELPYMRPPLSKELWFSDDPNVTKTLRFKQWNGKERSIYFQPPSFYVSAQDLPHIENGGVAVLTGKKVVQLDVRDNMVKLNDGSQITYEKCLIATGGTPRSLSAIDRAGAEVKSRTTLFRKIGDFRSLEKISREVKSITIIGGGFLGSELACALGRKARALGTEVIQLFPEKGNMGKILPEYLSNWTMEKVRREGVKVMPNAIVQSVGVSSGKLLIKLKDGRKVETDHIVAAVGLEPNVELAKTGGLEIDSDFGGFRVNAELQARSNIWVAGDAACFYDIKLGRRRVEHHDHAVVSGRLAGENMTGAAKPYWHQSMFWSDLGPDVGYEAIGLVDSSLPTVGVFAKATAQDNPKSATEQSGTGIRSESETESEASEITIPPSTPAVPQAPVQGEDYGKGVIFYLRDKVVVGIVLWNIFNRMPIARKIIKDGEQHEDLNEVAKLFNIHED", "length": 611, "header": "tr|A0A6Q8PHJ9-1|A0A6Q8PHJ9_HUMAN Computationally mapped isoform of Apoptosis inducing factor mitochondria associated 1 OS=Homo sapiens OX=9606 GN=AIFM1 PE=1 SV=1 CANONICAL=O95831-1" }, "locus": { "chromosome": "X", "start_pos": 130165656, "end_pos": 130129560, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000675857.1", "url": "https://www.ensembl.org/id/ENST00000675857.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000502721.1", "url": "https://www.ensembl.org/id/ENSP00000502721.1" } ] } }, { "isoform_ac": "A0A7I2PK44-1", "url": "", "sequence": { "sequence": "MFRCGGLAAGALKQKLVPLVRTVCVRSPRQRNRLPGNLFQRWHVPLELQMTRQMASSGASGGKIDNSVLVLIVGLSTVGAGAYAYKTMKEDEKRYNERISGLGLTPEQKQKKAALSASEGEEVPQDKAPSHVPFLLIGGGTAAFAAARSIRARDPGARVLIVSEDPELPYMRPPLSKELWFSDDPNVTKTLRFKQWNGKERSIYFQPPSFYVSAQDLPHIENGGVAVLTGKKVVQLDVRDNMVKLNDGSQITYEKCLIATGTPRSLSAIDRAGAEVKSRTTLFRKIGDFRSLEKISREVKSITIIGGGFLGSELACALGRKARALGTEVIQLFPEKGNMGKILPEYLSNWTMEKVRREGVKVMPNAIVQSVGVSSGKLLIKLKDGRKVETDHIVAAVGLEPNVELAKTGGLEIDSDFGGFRVNAELQARSNIWVAGDAACFYDIKLGRRRVEHHDHAVVSGRLAGENMTGAAKPYWHQSMFCDLGPDVGYEAIGLVDSSLPTVGVFAKATAQDNPKSATEQSGTGIRSESETESEASEITIPPSTPAVPQAPVQGEDYGKGVIFYLRDKVVVGIVLWNIFNRMPIARKIIKDGEQHEDLNEVAKLFNIHED", "length": 611, "header": "tr|A0A7I2PK44-1|A0A7I2PK44_HUMAN Computationally mapped isoform of Apoptosis inducing factor mitochondria associated 1 OS=Homo sapiens OX=9606 GN=AIFM1 PE=1 SV=1 CANONICAL=O95831-1" }, "locus": { "chromosome": "X", "start_pos": 130165656, "end_pos": 130129560, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000319908.8", "url": "https://www.ensembl.org/id/ENST00000319908.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000315122.4", "url": "https://www.ensembl.org/id/ENSP00000315122.4" } ] } }, { "isoform_ac": "A0A7I2RLJ8-1", "url": "", "sequence": { "sequence": "MFRCGGLAAGALKQKLVPLVRTVCVRSPRQRNRLPGNLFQRWHVPLELQMTRQMASSGASGGKIDNSVLVLIVGLSTVGAGAYAYKTMKEDEKRYNERISGLGLTPEQKQKKAALSEGEEVPQDKAPSHVPFLLIGGGTAAFAAARSIRARDPGARVLIVSEDPELPYMRPPLSKELWFSDDPNVTKTLRFKQWNGKERSIYFQPPSFYVSAQDLPHIENGGVAVLTGKKVVQLDVRDNMVKLNDGSQITYEKCLIATGGTPRSLSAIDRAGAEVKSRTTLFRKIGDFRSLEKISREVKSITIIGGGFLGSELACALGRKARALGTEVIQLFPEKGNMGKILPEYLSNWTMEKVRREGVKVMPNAIVQSVGVSSGKLLIKLKDGRKVETDHIVAAVGLEPNVELAKTGGLEIDSDFGGFRVNAELQARSNIWVEMLHASTI", "length": 441, "header": "tr|A0A7I2RLJ8-1|AIFM1_HUMAN Computationally mapped isoform of Apoptosis-inducing factor 1, mitochondrial OS=Homo sapiens OX=9606 GN=AIFM1 PE=1 SV=1 CANONICAL=O95831-1" }, "locus": { "chromosome": "X", "start_pos": 130165656, "end_pos": 130133428, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000416073.7", "url": "https://www.ensembl.org/id/ENST00000416073.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000402535.3", "url": "https://www.ensembl.org/id/ENSP00000402535.3" } ] } }, { "isoform_ac": "E9PMA0-1", "url": "", "sequence": { "sequence": "MGKILPEYLSNWTMEKVRREGVKVMPNAIVQSVGVSSGKLLIKLKDGRKVETDHIVAAVGLEPNVELAKTGGLEIDSDFGGFRVNAELQARSNIWVAGDAACFYDIKLGRRRVEHHDHAVVSGRLAGENMTGAAKPYWHQSMFWSDLGPDVGYEAIGLVDSSLPTVGVFAKATAQDNPKSATEQSGTGIRSESETESEASEITIPPSTPAVPQAPVQGEDYGKGVIFYLRDKVVVGIVLWNIFNRMPIARKIIKDGEQHEDLNEVAKLFNIHED", "length": 274, "header": "tr|E9PMA0-1|E9PMA0_HUMAN Computationally mapped isoform of Apoptosis inducing factor mitochondria associated 1 OS=Homo sapiens OX=9606 GN=AIFM1 PE=1 SV=1 CANONICAL=O95831-1" }, "locus": { "chromosome": "X", "start_pos": 130137135, "end_pos": 130129560, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000460436.6", "url": "https://www.ensembl.org/id/ENST00000460436.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000431222.1", "url": "https://www.ensembl.org/id/ENSP00000431222.1" } ] } }, { "isoform_ac": "E9PMQ8-1", "url": "", "sequence": { "sequence": "MFRCGGLAAGALKQKLVPLVRTVCVRSPRQRNRLPGNLFQRWHVPLELQMTRQMASSGASGGKIDNSVLVLIVGLSTVGAGAYLCSLIT", "length": 89, "header": "tr|E9PMQ8-1|E9PMQ8_HUMAN Computationally mapped isoform of Apoptosis inducing factor mitochondria associated 1 OS=Homo sapiens OX=9606 GN=AIFM1 PE=1 SV=1 CANONICAL=O95831-1" }, "locus": { "chromosome": "X", "start_pos": 130165656, "end_pos": 130155269, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000529877.1", "url": "https://www.ensembl.org/id/ENST00000529877.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000432998.1", "url": "https://www.ensembl.org/id/ENSP00000432998.1" } ] } }, { "isoform_ac": "O95831-1", "url": "", "sequence": { "sequence": "MFRCGGLAAGALKQKLVPLVRTVCVRSPRQRNRLPGNLFQRWHVPLELQMTRQMASSGASGGKIDNSVLVLIVGLSTVGAGAYAYKTMKEDEKRYNERISGLGLTPEQKQKKAALSASEGEEVPQDKAPSHVPFLLIGGGTAAFAAARSIRARDPGARVLIVSEDPELPYMRPPLSKELWFSDDPNVTKTLRFKQWNGKERSIYFQPPSFYVSAQDLPHIENGGVAVLTGKKVVQLDVRDNMVKLNDGSQITYEKCLIATGGTPRSLSAIDRAGAEVKSRTTLFRKIGDFRSLEKISREVKSITIIGGGFLGSELACALGRKARALGTEVIQLFPEKGNMGKILPEYLSNWTMEKVRREGVKVMPNAIVQSVGVSSGKLLIKLKDGRKVETDHIVAAVGLEPNVELAKTGGLEIDSDFGGFRVNAELQARSNIWVAGDAACFYDIKLGRRRVEHHDHAVVSGRLAGENMTGAAKPYWHQSMFWSDLGPDVGYEAIGLVDSSLPTVGVFAKATAQDNPKSATEQSGTGIRSESETESEASEITIPPSTPAVPQAPVQGEDYGKGVIFYLRDKVVVGIVLWNIFNRMPIARKIIKDGEQHEDLNEVAKLFNIHED", "length": 613, "header": "sp|O95831-1|AIFM1_HUMAN Isoform 1 of Apoptosis-inducing factor 1, mitochondrial OS=Homo sapiens OX=9606 GN=AIFM1 PE=1 SV=1 CANONICAL=O95831-1" }, "locus": { "chromosome": "X", "start_pos": 130165656, "end_pos": 130129560, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000287295.8", "url": "https://www.ensembl.org/id/ENST00000287295.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000287295.3", "url": "https://www.ensembl.org/id/ENSP00000287295.3" } ] } }, { "isoform_ac": "O95831-2", "url": "", "sequence": { "sequence": "MFRCGGLAAGALKQKLVPLVRTVCVRSPRQRNRLPARALGTEVIQLFPEKGNMGKILPEYLSNWTMEKVRREGVKVMPNAIVQSVGVSSGKLLIKLKDGRKVETDHIVAAVGLEPNVELAKTGGLEIDSDFGGFRVNAELQARSNIWVAGDAACFYDIKLGRRRVEHHDHAVVSGRLAGENMTGAAKPYWHQSMFWSDLGPDVGYEAIGLVDSSLPTVGVFAKATAQDNPKSATEQSGTGIRSESETESEASEITIPPSTPAVPQAPVQGEDYGKGVIFYLRDKVVVGIVLWNIFNRMPIARKIIKDGEQHEDLNEVAKLFNIHED", "length": 326, "header": "sp|O95831-2|AIFM1_HUMAN Isoform 2 of Apoptosis-inducing factor 1, mitochondrial OS=Homo sapiens OX=9606 GN=AIFM1 PE=1 SV=1 CANONICAL=O95831-1" }, "locus": { "chromosome": "X", "start_pos": 130165656, "end_pos": 130129560, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000346424.6", "url": "https://www.ensembl.org/id/ENST00000346424.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000316320.3", "url": "https://www.ensembl.org/id/ENSP00000316320.3" } ] } }, { "isoform_ac": "O95831-3", "url": "", "sequence": { "sequence": "MFRCGGLAAGALKQKLVPLVRTVCVRSPRQRNRLPVVQSHHLGSPSRSLASTGASGKDGSNLVYFLIVGATVTGAGVYYAYKTMKEDEKRYNERISGLGLTPEQKQKKAALSASEGEEVPQDKAPSHVPFLLIGGGTAAFAAARSIRARDPGARVLIVSEDPELPYMRPPLSKELWFSDDPNVTKTLRFKQWNGKERSIYFQPPSFYVSAQDLPHIENGGVAVLTGKKVVQLDVRDNMVKLNDGSQITYEKCLIATGGTPRSLSAIDRAGAEVKSRTTLFRKIGDFRSLEKISREVKSITIIGGGFLGSELACALGRKARALGTEVIQLFPEKGNMGKILPEYLSNWTMEKVRREGVKVMPNAIVQSVGVSSGKLLIKLKDGRKVETDHIVAAVGLEPNVELAKTGGLEIDSDFGGFRVNAELQARSNIWVAGDAACFYDIKLGRRRVEHHDHAVVSGRLAGENMTGAAKPYWHQSMFWSDLGPDVGYEAIGLVDSSLPTVGVFAKATAQDNPKSATEQSGTGIRSESETESEASEITIPPSTPAVPQAPVQGEDYGKGVIFYLRDKVVVGIVLWNIFNRMPIARKIIKDGEQHEDLNEVAKLFNIHED", "length": 609, "header": "sp|O95831-3|AIFM1_HUMAN Isoform 3 of Apoptosis-inducing factor 1, mitochondrial OS=Homo sapiens OX=9606 GN=AIFM1 PE=1 SV=1 CANONICAL=O95831-1" }, "locus": { "chromosome": "X", "start_pos": 130165656, "end_pos": 130129560, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000676229.1", "url": "https://www.ensembl.org/id/ENST00000676229.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000502184.1", "url": "https://www.ensembl.org/id/ENSP00000502184.1" } ] } }, { "isoform_ac": "O95831-4", "url": "", "sequence": { "sequence": "MFRCGGLAAGALKQKLVPLVRTVCVRSPRQRNRLPGNLFQRWHVPLELQMTRQMASSGASGGKIDNSVLVLIVGLSTVGAGAYAYKTMKEDEKRYNERISGLGLTPEQKQKKAALSASEGEEVPQDKAPSHVPFLLIGGGTAAFAAARSIRARDPGARVLIVSEDPELPYMRPPLSKELWFSDDPNVTKTLRFKQWNGKERSIYFQPPSFYVSAQDLPHIENGGVAVLTGKKVVQLDVRDNMVKLNDGSQITYEKCLIATGGTPRSLSAIDRAGAEVKSRTTLFRKIGDFRSLEKISREVKSITIIGGGFLGSELACALGRKDI", "length": 324, "header": "sp|O95831-4|AIFM1_HUMAN Isoform 4 of Apoptosis-inducing factor 1, mitochondrial OS=Homo sapiens OX=9606 GN=AIFM1 PE=1 SV=1 CANONICAL=O95831-1" }, "locus": { "chromosome": "X", "start_pos": 130165656, "end_pos": 130137521, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000535724.6", "url": "https://www.ensembl.org/id/ENST00000535724.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000446113.2", "url": "https://www.ensembl.org/id/ENSP00000446113.2" } ] } }, { "isoform_ac": "O95831-5", "url": "", "sequence": { "sequence": "MEKVRREGVKVMPNAIVQSVGVSSGKLLIKLKDGRKVETDHIVAAVGLEPNVELAKTGGLEIDSDFGGFRVNAELQARSNIWVAGDAACFYDIKLGRRRVEHHDHAVVSGRLAGENMTGAAKPYWHQSMFWSDLGPDVGYEAIGLVDSSLPTVGVFAKATAQDNPKSATEQSGTGIRSESETESEASEITIPPSTPAVPQAPVQGEDYGKGVIFYLRDKVVVGIVLWNIFNRMPIARKIIKDGEQHEDLNEVAKLFNIHED", "length": 261, "header": "sp|O95831-5|AIFM1_HUMAN Isoform 5 of Apoptosis-inducing factor 1, mitochondrial OS=Homo sapiens OX=9606 GN=AIFM1 PE=1 SV=1 CANONICAL=O95831-1" }, "locus": {} }, { "isoform_ac": "O95831-6", "url": "", "sequence": { "sequence": "MFRCGGLAAGALKQKLVPLVRTVCVRSPRQRNRLPGLQDYERG", "length": 43, "header": "sp|O95831-6|AIFM1_HUMAN Isoform 6 of Apoptosis-inducing factor 1, mitochondrial OS=Homo sapiens OX=9606 GN=AIFM1 PE=1 SV=1 CANONICAL=O95831-1" }, "locus": { "chromosome": "X", "start_pos": 130165656, "end_pos": 130149546, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000675774.1", "url": "https://www.ensembl.org/id/ENST00000675774.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000502690.1", "url": "https://www.ensembl.org/id/ENSP00000502690.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 60, "start_aa": "Ser", "end_pos": 60, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser60", "evidence": [ { "id": "O95831", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O95831" }, { "id": "32119511", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32119511" }, { "id": "30444036", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30444036" }, { "id": "34725712", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34725712" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "O95831", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O95831" } ] } ], "phosphorylation": [ { "start_pos": 105, "end_pos": 105, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "O95831", "url": "https://www.uniprot.org/uniprot/O95831" }, { "database": "PubMed", "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "O95831", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95831" } ], "site_lbl": "Thr105" }, { "start_pos": 116, "end_pos": 116, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O95831", "url": "https://www.uniprot.org/uniprot/O95831" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "O95831", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95831" } ], "site_lbl": "Ser116" }, { "start_pos": 118, "end_pos": 118, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O95831", "url": "https://www.uniprot.org/uniprot/O95831" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "O95831", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95831" } ], "site_lbl": "Ser118" }, { "start_pos": 268, "end_pos": 268, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O95831", "url": "https://www.uniprot.org/uniprot/O95831" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "O95831", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95831" }, { "database": "PubMed", "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "phospho.ELM", "id": "O95831", "url": "http://phospho.elm.eu.org/byAccession/O95831.html" } ], "site_lbl": "Ser268" }, { "start_pos": 281, "end_pos": 281, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O95831", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95831" }, { "database": "PubMed", "id": "33867848", "url": "https://glygen.org/publication/PubMed/33867848" } ], "site_lbl": "Thr281" }, { "start_pos": 292, "end_pos": 292, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O95831", "url": "https://www.uniprot.org/uniprot/O95831" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "O95831", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95831" } ], "site_lbl": "Ser292" }, { "start_pos": 328, "end_pos": 328, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O95831", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95831" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Thr328" }, { "start_pos": 371, "end_pos": 371, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O95831", "url": "https://www.uniprot.org/uniprot/O95831" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "O95831", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95831" } ], "site_lbl": "Ser371" }, { "start_pos": 521, "end_pos": 521, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "O95831", "url": "https://www.uniprot.org/uniprot/O95831" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "O95831", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95831" } ], "site_lbl": "Thr521" }, { "start_pos": 524, "end_pos": 524, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O95831", "url": "https://www.uniprot.org/uniprot/O95831" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "O95831", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95831" } ], "site_lbl": "Ser524" }, { "start_pos": 530, "end_pos": 530, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O95831", "url": "https://www.uniprot.org/uniprot/O95831" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "O95831", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95831" } ], "site_lbl": "Ser530" } ], "glycation": [], "keywords": [ "enzyme", "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Apoptosis-inducing factor (AIF): a ubiquitous mitochondrial oxidoreductase involved in apoptosis.", "journal": "FEBS Lett.", "date": "2000", "authors": "Daugas E, Nochy D, Ravagnan L, Loeffler M, Susin S A, Zamzami N, Kroemer G", "evidence": [ { "database": "UniProtKB", "id": "O95831", "url": "https://www.uniprot.org/uniprot/O95831" } ], "reference": [ { "type": "PubMed", "id": "10913597", "url": "https://glygen.org/publication/PubMed/10913597" } ] }, { "title": "DNA binding is required for the apoptogenic action of apoptosis inducing factor.", "journal": "Nat. Struct. Biol.", "date": "2002", "authors": "Ye H, Cande C, Stephanou NC, Jiang S, Gurbuxani S, Larochette N, Daugas E, Garrido C, Kroemer G, Wu H", "evidence": [ { "database": "UniProtKB", "id": "O95831", "url": "https://www.uniprot.org/uniprot/O95831" } ], "reference": [ { "type": "PubMed", "id": "12198487", "url": "https://glygen.org/publication/PubMed/12198487" } ] }, { "title": "Export of mitochondrial AIF in response to proapoptotic stimuli depends on processing at the intermembrane space.", "journal": "The EMBO journal", "date": "2005", "authors": "Otera H, Ohsakaya S, Nagaura Z, Ishihara N, Mihara K", "evidence": [ { "database": "UniProtKB", "id": "O95831", "url": "https://www.uniprot.org/uniprot/O95831" } ], "reference": [ { "type": "PubMed", "id": "15775970", "url": "https://glygen.org/publication/PubMed/15775970" } ] }, { "title": "AIFsh, a novel apoptosis-inducing factor (AIF) pro-apoptotic isoform with potential pathological relevance in human cancer.", "journal": "The Journal of biological chemistry", "date": "2006", "authors": "Delettre C, Yuste VJ, Moubarak RS, Bras M, Lesbordes-Brion JC, Petres S, Bellalou J, Susin SA", "evidence": [ { "database": "UniProtKB", "id": "O95831", "url": "https://www.uniprot.org/uniprot/O95831" }, { "database": "RefSeq", "id": "NP_001124318", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001124318" } ], "reference": [ { "type": "PubMed", "id": "16365034", "url": "https://glygen.org/publication/PubMed/16365034" } ] }, { "title": "Identification and characterization of AIFsh2, a mitochondrial apoptosis-inducing factor (AIF) isoform with NADH oxidase activity.", "journal": "The Journal of biological chemistry", "date": "2006", "authors": "Delettre C, Yuste VJ, Moubarak RS, Bras M, Robert N, Susin SA", "evidence": [ { "database": "UniProtKB", "id": "O95831", "url": "https://www.uniprot.org/uniprot/O95831" }, { "database": "RefSeq", "id": "NP_001124318", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001124318" } ], "reference": [ { "type": "PubMed", "id": "16644725", "url": "https://glygen.org/publication/PubMed/16644725" } ] }, { "title": "Apoptosis-inducing factor (AIF) inhibits protein synthesis by interacting with the eukaryotic translation initiation factor 3 subunit p44 (eIF3g).", "journal": "FEBS letters", "date": "2006-11-27", "authors": "Kim Jong-Tae, Kim Kwang Dong, Song Eun Young, Lee Hee Gu, Kim Jae Wha, Kim Jung Woo, Chae Suhn-Kee, Kim Eunhee, Lee Myeong-Sok, Yang Young, Lim Jong-Seok", "evidence": [ { "database": "UniProtKB", "id": "O95831", "url": "https://www.uniprot.org/uniprot/O95831" } ], "reference": [ { "type": "PubMed", "id": "17094969", "url": "https://glygen.org/publication/PubMed/17094969" } ] }, { "title": "Apoptosis-inducing factor is a target for ubiquitination through interaction with XIAP.", "journal": "Molecular and cellular biology", "date": "2008", "authors": "Wilkinson JC, Wilkinson AS, Galban S, Csomos RA, Duckett CS", "evidence": [ { "database": "UniProtKB", "id": "O95831", "url": "https://www.uniprot.org/uniprot/O95831" } ], "reference": [ { "type": "PubMed", "id": "17967870", "url": "https://glygen.org/publication/PubMed/17967870" } ] }, { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "O95831", "url": "https://www.uniprot.org/uniprot/O95831" }, { "database": "iPTMnet", "id": "O95831-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95831-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle.", "journal": "Molecular cell", "date": "2008", "authors": "Daub H, Olsen JV, Bairlein M, Gnad F, Oppermann FS, Korner R, Greff Z, Keri G, Stemmann O, Mann M", "evidence": [ { "database": "UniProtKB", "id": "O95831", "url": "https://www.uniprot.org/uniprot/O95831" }, { "database": "iPTMnet", "id": "O95831-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95831-1" } ], "reference": [ { "type": "PubMed", "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976" } ] }, { "title": "Apoptosis-inducing factor plays a critical role in caspase-independent, pyknotic cell death in hydrogen peroxide-exposed cells.", "journal": "Apoptosis : an international journal on programmed cell death", "date": "2009-06", "authors": "Son Young-Ok, Jang Yong-Suk, Heo Jung-Sun, Chung Wan-Tae, Choi Ki-Choon, Lee Jeong-Chae", "evidence": [ { "database": "UniProtKB", "id": "O95831", "url": "https://www.uniprot.org/uniprot/O95831" } ], "reference": [ { "type": "PubMed", "id": "19418225", "url": "https://glygen.org/publication/PubMed/19418225" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "iPTMnet", "id": "O95831-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95831-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "title": "A brain-specific isoform of mitochondrial apoptosis-inducing factor: AIF2.", "journal": "Cell Death Differ.", "date": "2010", "authors": "Hangen E, De Zio D, Bordi M, Zhu C, Dessen P, Caffin F, Lachkar S, Perfettini J-L, Lazar V, Benard J, Fimia G M, Piacentini M, Harper F, Pierron G, Vicencio J M, B\u00e9nit P, de Andrade A, H\u00f6glinger G, Culmsee C, Rustin P, Blomgren K, Cecconi F, Kroemer G, Modjtahedi N", "evidence": [ { "database": "UniProtKB", "id": "O95831", "url": "https://www.uniprot.org/uniprot/O95831" } ], "reference": [ { "type": "PubMed", "id": "20111043", "url": "https://glygen.org/publication/PubMed/20111043" } ] }, { "title": "Severe X-linked mitochondrial encephalomyopathy associated with a mutation in apoptosis-inducing factor.", "journal": "American journal of human genetics", "date": "2010", "authors": "Ghezzi D, Sevrioukova I, Invernizzi F, Lamperti C, Mora M, D'Adamo P, Novara F, Zuffardi O, Uziel G, Zeviani M", "evidence": [ { "database": "UniProtKB", "id": "O95831", "url": "https://www.uniprot.org/uniprot/O95831" }, { "database": "RefSeq", "id": "NP_001124318", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001124318" } ], "reference": [ { "type": "PubMed", "id": "20362274", "url": "https://glygen.org/publication/PubMed/20362274" } ] }, { "title": "Vital function of PRELI and essential requirement of its LEA motif.", "journal": "Cell Death Dis.", "date": "2010", "authors": "McKeller MR, Herrera-Rodriguez S, Ma W, Ortiz-Quintero B, Rangel R, Cande C, Sims-Mourtada JC, Melnikova V, Kashi C, Phan LM, Chen Z, Huang P, Dunner K Jr, Kroemer G, Singh KK, Martinez-Valdez H", "evidence": [ { "database": "UniProtKB", "id": "O95831", "url": "https://www.uniprot.org/uniprot/O95831" } ], "reference": [ { "type": "PubMed", "id": "21364629", "url": "https://glygen.org/publication/PubMed/21364629" } ] }, { "title": "Early prenatal ventriculomegaly due to an AIFM1 mutation identified by linkage analysis and whole exome sequencing.", "journal": "Molecular genetics and metabolism", "date": "2011", "authors": "Berger I, Ben-Neriah Z, Dor-Wolman T, Shaag A, Saada A, Zenvirt S, Raas-Rothschild A, Nadjari M, Kaestner KH, Elpeleg O", "evidence": [ { "database": "UniProtKB", "id": "O95831", "url": "https://www.uniprot.org/uniprot/O95831" } ], "reference": [ { "type": "PubMed", "id": "22019070", "url": "https://glygen.org/publication/PubMed/22019070" } ] }, { "title": "Nondegradative ubiquitination of apoptosis inducing factor (AIF) by X-linked inhibitor of apoptosis at a residue critical for AIF-mediated chromatin degradation.", "journal": "Biochemistry", "date": "2011", "authors": "Lewis EM, Wilkinson AS, Davis NY, Horita DA, Wilkinson JC", "evidence": [ { "database": "UniProtKB", "id": "O95831", "url": "https://www.uniprot.org/uniprot/O95831" } ], "reference": [ { "type": "PubMed", "id": "22103349", "url": "https://glygen.org/publication/PubMed/22103349" } ] }, { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "O95831", "url": "https://www.uniprot.org/uniprot/O95831" }, { "database": "iPTMnet", "id": "O95831", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95831" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "Cowchock syndrome is associated with a mutation in apoptosis-inducing factor.", "journal": "American journal of human genetics", "date": "2012", "authors": "Rinaldi C, Grunseich C, Sevrioukova IF, Schindler A, Horkayne-Szakaly I, Lamperti C, Landoure G, Kennerson ML, Burnett BG, Bonnemann C, Biesecker LG, Ghezzi D, Zeviani M, Fischbeck KH", "evidence": [ { "database": "UniProtKB", "id": "O95831", "url": "https://www.uniprot.org/uniprot/O95831" } ], "reference": [ { "type": "PubMed", "id": "23217327", "url": "https://glygen.org/publication/PubMed/23217327" } ] }, { "title": "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.", "journal": "Journal of proteomics", "date": "2014", "authors": "Bian Y, Song C, Cheng K, Dong M, Wang F, Huang J, Sun D, Wang L, Ye M, Zou H", "evidence": [ { "database": "UniProtKB", "id": "O95831", "url": "https://www.uniprot.org/uniprot/O95831" }, { "database": "iPTMnet", "id": "O95831", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95831" } ], "reference": [ { "type": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" } ] }, { "title": "Structural insights into the coenzyme mediated monomer-dimer transition of the pro-apoptotic apoptosis inducing factor.", "journal": "Biochemistry", "date": "2014", "authors": "Ferreira P, Villanueva R, Martinez-Julvez M, Herguedas B, Marcuello C, Fernandez-Silva P, Cabon L, Hermoso JA, Lostao A, Susin SA, Medina M", "evidence": [ { "database": "UniProtKB", "id": "O95831", "url": "https://www.uniprot.org/uniprot/O95831" } ], "reference": [ { "type": "PubMed", "id": "24914854", "url": "https://glygen.org/publication/PubMed/24914854" } ] }, { "title": "From ventriculomegaly to severe muscular atrophy: expansion of the clinical spectrum related to mutations in AIFM1.", "journal": "Mitochondrion", "date": "2015", "authors": "Kettwig M, Schubach M, Zimmermann FA, Klinge L, Mayr JA, Biskup S, Sperl W, Gartner J, Huppke P", "evidence": [ { "database": "UniProtKB", "id": "O95831", "url": "https://www.uniprot.org/uniprot/O95831" } ], "reference": [ { "type": "PubMed", "id": "25583628", "url": "https://glygen.org/publication/PubMed/25583628" } ] }, { "title": "A slowly progressive mitochondrial encephalomyopathy widens the spectrum of AIFM1 disorders.", "journal": "Neurology", "date": "2015", "authors": "Ardissone A, Piscosquito G, Legati A, Langella T, Lamantea E, Garavaglia B, Salsano E, Farina L, Moroni I, Pareyson D, Ghezzi D", "evidence": [ { "database": "UniProtKB", "id": "O95831", "url": "https://www.uniprot.org/uniprot/O95831" } ], "reference": [ { "type": "PubMed", "id": "25934856", "url": "https://glygen.org/publication/PubMed/25934856" } ] }, { "title": "Mutations in apoptosis-inducing factor cause X-linked recessive auditory neuropathy spectrum disorder.", "journal": "Journal of medical genetics", "date": "2015", "authors": "Zong L, Guan J, Ealy M, Zhang Q, Wang D, Wang H, Zhao Y, Shen Z, Campbell CA, Wang F, Yang J, Sun W, Lan L, Ding D, Xie L, Qi Y, Lou X, Huang X, Shi Q, Chang S, Xiong W, Yin Z, Yu N, Zhao H, Wang J, Wang J, Salvi RJ, Petit C, Smith RJ, Wang Q", "evidence": [ { "database": "UniProtKB", "id": "O95831", "url": "https://www.uniprot.org/uniprot/O95831" } ], "reference": [ { "type": "PubMed", "id": "25986071", "url": "https://glygen.org/publication/PubMed/25986071" } ] }, { "title": "Interaction between AIF and CHCHD4 Regulates Respiratory Chain Biogenesis.", "journal": "Molecular cell", "date": "2015", "authors": "Hangen E, Feraud O, Lachkar S, Mou H, Doti N, Fimia GM, Lam NV, Zhu C, Godin I, Muller K, Chatzi A, Nuebel E, Ciccosanti F, Flamant S, Benit P, Perfettini JL, Sauvat A, Bennaceur-Griscelli A, Ser-Le Roux K, Gonin P, Tokatlidis K, Rustin P, Piacentini M, Ruvo M, Blomgren K, Kroemer G, Modjtahedi N", "evidence": [ { "database": "UniProtKB", "id": "O95831", "url": "https://www.uniprot.org/uniprot/O95831" } ], "reference": [ { "type": "PubMed", "id": "26004228", "url": "https://glygen.org/publication/PubMed/26004228" } ] }, { "title": "A novel AIFM1 mutation expands the phenotype to an infantile motor neuron disease.", "journal": "European journal of human genetics : EJHG", "date": "2016", "authors": "Diodato D, Tasca G, Verrigni D, D'Amico A, Rizza T, Tozzi G, Martinelli D, Verardo M, Invernizzi F, Nasca A, Bellacchio E, Ghezzi D, Piemonte F, Dionisi-Vici C, Carrozzo R, Bertini E", "evidence": [ { "database": "UniProtKB", "id": "O95831", "url": "https://www.uniprot.org/uniprot/O95831" } ], "reference": [ { "type": "PubMed", "id": "26173962", "url": "https://glygen.org/publication/PubMed/26173962" } ] }, { "title": "Structure/Function Relations in AIFM1 Variants Associated with Neurodegenerative Disorders.", "journal": "Journal of molecular biology", "date": "2016", "authors": "Sevrioukova IF", "evidence": [ { "database": "UniProtKB", "id": "O95831", "url": "https://www.uniprot.org/uniprot/O95831" } ], "reference": [ { "type": "PubMed", "id": "27178839", "url": "https://glygen.org/publication/PubMed/27178839" } ] }, { "title": "Defining NADH-Driven Allostery Regulating Apoptosis-Inducing Factor.", "journal": "Structure (London, England : 1993)", "date": "2016", "authors": "Brosey CA, Ho C, Long WZ, Singh S, Burnett K, Hura GL, Nix JC, Bowman GR, Ellenberger T, Tainer JA", "evidence": [ { "database": "UniProtKB", "id": "O95831", "url": "https://www.uniprot.org/uniprot/O95831" } ], "reference": [ { "type": "PubMed", "id": "27818101", "url": "https://glygen.org/publication/PubMed/27818101" } ] }, { "title": "X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1.", "journal": "Neurogenetics", "date": "2017", "authors": "Miyake N, Wolf NI, Cayami FK, Crawford J, Bley A, Bulas D, Conant A, Bent SJ, Gripp KW, Hahn A, Humphray S, Kimura-Ohba S, Kingsbury Z, Lajoie BR, Lal D, Micha D, Pizzino A, Sinke RJ, Sival D, Stolte-Dijkstra I, Superti-Furga A, Ulrick N, Taft RJ, Ogata T, Ozono K, Matsumoto N, Neubauer BA, Simons C, Vanderver A", "evidence": [ { "database": "UniProtKB", "id": "O95831", "url": "https://www.uniprot.org/uniprot/O95831" } ], "reference": [ { "type": "PubMed", "id": "28842795", "url": "https://glygen.org/publication/PubMed/28842795" } ] }, { "title": "Mapping and Quantification of Over 2000 O-linked Glycopeptides in Activated Human T Cells with Isotope-Targeted Glycoproteomics (Isotag).", "journal": "Molecular & cellular proteomics : MCP", "date": "2018", "authors": "Woo CM, Lund PJ, Huang AC, Davis MM, Bertozzi CR, Pitteri SJ", "evidence": [ { "database": "O-GlcNAc Database", "id": "O95831", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O95831" }, { "database": "O-GlcNAc Atlas", "id": "O95831", "url": "https://oglcnac.org/atlas/detail/O95831" } ], "reference": [ { "type": "PubMed", "id": "29351928", "url": "https://glygen.org/publication/PubMed/29351928" } ] }, { "title": "O-GlcNAc-induced nuclear translocation of hnRNP-K is associated with progression and metastasis of cholangiocarcinoma.", "journal": "Molecular oncology", "date": "2019", "authors": "Phoomak C, Park D, Silsirivanit A, Sawanyawisuth K, Vaeteewoottacharn K, Detarya M, Wongkham C, Lebrilla CB, Wongkham S", "evidence": [ { "database": "O-GlcNAc Database", "id": "O95831", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O95831" } ], "reference": [ { "type": "PubMed", "id": "30444036", "url": "https://glygen.org/publication/PubMed/30444036" } ] }, { "title": "Engineering a Proximity-Directed O-GlcNAc Transferase for Selective Protein O-GlcNAcylation in Cells.", "journal": "ACS chemical biology", "date": "2020", "authors": "Ramirez DH, Aonbangkhen C, Wu HY, Naftaly JA, Tang S, O'Meara TR, Woo CM", "evidence": [ { "database": "O-GlcNAc Database", "id": "O95831", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O95831" } ], "reference": [ { "type": "PubMed", "id": "32119511", "url": "https://glygen.org/publication/PubMed/32119511" } ] }, { "title": "The 89-kDa PARP1 cleavage fragment serves as a cytoplasmic PAR carrier to induce AIF-mediated apoptosis.", "journal": "The Journal of biological chemistry", "date": "2021", "authors": "Mashimo M, Onishi M, Uno A, Tanimichi A, Nobeyama A, Mori M, Yamada S, Negi S, Bu X, Kato J, Moss J, Sanada N, Kizu R, Fujii T", "evidence": [ { "database": "UniProtKB", "id": "O95831", "url": "https://www.uniprot.org/uniprot/O95831" } ], "reference": [ { "type": "PubMed", "id": "33168626", "url": "https://glygen.org/publication/PubMed/33168626" } ] }, { "title": "PAK5-mediated AIF phosphorylation inhibits its nuclear translocation and promotes breast cancer tumorigenesis.", "journal": "International journal of biological sciences", "date": "2021", "authors": "Xing Yao, Li Yang, Hu Bingtao, Han Fuyi, Zhao Xin, Zhang Hongyan, Li Yanshu, Li Danni, Li Jiabin, Jin Feng, Li Feng", "evidence": [ { "database": "iPTMnet", "id": "O95831", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95831" } ], "reference": [ { "type": "PubMed", "id": "33867848", "url": "https://glygen.org/publication/PubMed/33867848" } ] }, { "title": "Truncation of the TPR domain of OGT alters substrate and glycosite selection.", "journal": "Analytical and bioanalytical chemistry", "date": "2021", "authors": "Ramirez DH, Yang B, D'Souza AK, Shen D, Woo CM", "evidence": [ { "database": "O-GlcNAc Database", "id": "O95831", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O95831" } ], "reference": [ { "type": "PubMed", "id": "34725712", "url": "https://glygen.org/publication/PubMed/34725712" } ] }, { "title": "Deep Brain Stimulation for the Management of AIFM1-Related Disabling Tremor: A Case Series.", "journal": "Pediatric neurology", "date": "2023-02-15", "authors": "Tunyi Jude, Abreu Nicolas J, Tripathi Richa, Mathew Mariam T, Mears Ashley, Agrawal Punit, Thakur Vishal, Rezai Ali R, Reyes Emily de Los", "evidence": [ { "database": "RefSeq", "id": "NP_001124318", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001124318" } ], "reference": [ { "type": "PubMed", "id": "36907087", "url": "https://glygen.org/publication/PubMed/36907087" } ] }, { "title": "Newly synthesized AIFM1 determines the hypersensitivity of T lymphocytes to STING activation-induced cell apoptosis.", "journal": "Cell reports", "date": "2023-03-30", "authors": "Ji Wangsheng, Zhang Lianfei, Ma Chengxin, Xu Xiaoyu, Li Shuai, Xia Huan, Zhou Weihong, Liu Xinqi", "evidence": [ { "database": "RefSeq", "id": "NP_001124318", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001124318" } ], "reference": [ { "type": "PubMed", "id": "37000625", "url": "https://glygen.org/publication/PubMed/37000625" } ] }, { "title": "Impaired AIF-CHCHD4 interaction and mitochondrial calcium overload contribute to auditory neuropathy spectrum disorder in patient-iPSC-derived neurons with AIFM1 variant.", "journal": "Cell death & disease", "date": "2023-06-26", "authors": "Qiu Yue, Wang Hongyang, Fan Mingjie, Pan Huaye, Guan Jing, Jiang Yangwei, Jia Zexiao, Wu Kaiwen, Zhou Hui, Zhuang Qianqian, Lei Zhaoying, Ding Xue, Cai Huajian, Dong Yufei, Yan Lei, Lin Aifu, Fu Yong, Zhang Dong, Yan Qingfeng, Wang Qiuju", "evidence": [ { "database": "RefSeq", "id": "NP_001124318", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001124318" } ], "reference": [ { "type": "PubMed", "id": "37365177", "url": "https://glygen.org/publication/PubMed/37365177" } ] }, { "title": "Molecular characterization of mitochondrial apoptosis-inducing factor.", "journal": "Nature", "date": "1999", "authors": "Susin S A, Lorenzo H K, Zamzami N, Marzo I, Snow B E, Brothers G M, Mangion J, Jacotot E, Costantini P, Loeffler M, Larochette N, Goodlett D R, Aebersold R, Siderovski D P, Penninger J M, Kroemer G", "evidence": [ { "database": "UniProtKB", "id": "O95831", "url": "https://www.uniprot.org/uniprot/O95831" } ], "reference": [ { "type": "PubMed", "id": "9989411", "url": "https://glygen.org/publication/PubMed/9989411" } ] } ], "pathway": [], "orthologs": [ { "uniprot_canonical_ac": "Q9JM53-1", "protein_name": "Apoptosis-inducing factor 1, mitochondrial", "gene_name": "Aifm1", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MFRCGGLAGAFKQKLVPLVRSVCVQRPKQRNRLPGNLFQQWRVPLELQMARQMASSGPSGGKMDNSVLVLIVGLSTIGAGAYAYKTIKEDQKRYNERIMGLGLSPEEKQRRAIASAAEGGSVPPIRVPSHVPFLLIGGGTAAFAAARSIRARDPGARVLIVSEDPELPYMRPPLSKELWFSDDPNVTKTLQFRQWNGKERSIYFQPPSFYVSAQDLPHIENGGVAVLTGKKVVHLDVRGNMVKLNDGSQITFEKCLIATGGTPRSLSAIDRAGAEVKSRTTLFRKIGDFRALEKISREVKSITVIGGGFLGSELACALGRKSQASGIEVIQLFPEKGNMGKILPEYLSNWTMEKVKREGVKVMPNAIVQSVGVSGGKLLIKLKDGRKVETDHIVTAVGLEPNVELAKTGGLEIDSDFGGFRVNAELQARSNIWVAGDAACFYDIKLGRRRVEHHDHAVVSGRLAGENMTGAAKPYWHQSMFWSDLGPDVGYEAIGLVDSSLPTVGVFAKATAQDNPKSATEQSGTGIRSESETESEASEITIPPSDPAVPQVPVEGEDYGKGVIFYLRDKVVVGIVLWNVFNRMPIARKIIKDGEQHEDLNEVAKLFNIHED", "length": 612 }, "evidence": [ { "id": "45917972", "url": "http://www.informatics.jax.org/homology/45917972", "database": "MGI" }, { "id": "O95831", "url": "https://omabrowser.org/oma/group/O95831/", "database": "OMA" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q9VQ79-2", "protein_name": "Putative apoptosis-inducing factor 1, mitochondrial", "gene_name": "AIF", "tax_id": 7227, "organism": "Drosophila melanogaster", "sequence": { "sequence": "MSIWGVRCLTQRFIRQAYILANRRLLGPVPQRSPPAYAPLRPAHSSLYQMVKKRTLEARTKLQANKYPNHQVCVTKPSTTPPVEEYETAVEGAGVPAYANAQFQAHSQSEPLFKVGFADVKSVCSAKDVLKSDSAKLSTSQPVLDSCKATSPCEEFKRKRKETTCQPCDEDGTAPGGGDGGDEECECRMKDLRLKCLLGALAALLAGGFLAWFMTRDTDDSEAKKAEAEEEERKRRLVAGLATSPPSSEDLPKHVPYLIIGGGTAAFSAFRAIKSNDATAKVLMISNEFRKPYMRPPLSKELWYTPNPNEDPIKDYRFKQWTGSERSLFFEPDEFFIDPEDLDDNANGGIAVAQGFSVKKVDAQKRIVTLNDGYEISYDECLIATGCAPKNLPMLRDAPPSVLEKVMVYRTPDDFDRLRKLAAEKRSITIVGNGFIGSELACSLAHYSRENNGGKVYQVFQENANMSKVLPNYLSRWTTAKMEAQGVCVIPNASIRSAVRDETNLKLELNNGMTLMSDVVVVCVGCTPNTDLAGPSRLEVDRSLGGFVVNAELEARRNLYVAGDASCFFDPLLGRRRVEHHDHSVVSGRLAGENMTGAKKPYQHQSMFWSDLGPEIGYEGIGLVDSSLPTVGVFALPSESATRVDQLSESSDSDVPETSTSSSQSSKSDAGASQDGVTCDPDEAGNYGKGVIFYLKNDKIVGILLWNLFNRIGLARTIINQNKKYDDLNEVAKLFEIHA", "length": 739 }, "evidence": [ { "id": "O95831", "url": "https://omabrowser.org/oma/group/O95831/", "database": "OMA" } ], "common_name": "Fruit fly" }, { 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"name": "flavin adenine dinucleotide binding", "id": "GO:0050660", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050660", "evidence": [ { "database": "UniProtKB", "id": "O95831", "url": "https://www.uniprot.org/uniprot/O95831" } ], "pmid": "" }, { "name": "oxidoreductase activity", "id": "GO:0016491", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016491", "evidence": [ { "database": "UniProtKB", "id": "O95831", "url": "https://www.uniprot.org/uniprot/O95831" } ], "pmid": "" }, { "name": "NADH dehydrogenase activity", "id": "GO:0003954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003954", "evidence": [ { "database": "UniProtKB", "id": "O95831", "url": "https://www.uniprot.org/uniprot/O95831" } ], "pmid": "" }, { "name": "poly-ADP-D-ribose binding", "id": "GO:0072572", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072572", "evidence": [ { "database": "UniProtKB", "id": "O95831", "url": "https://www.uniprot.org/uniprot/O95831" } ], "pmid": "" }, { "name": "DNA binding", "id": 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