[ { "uniprot_canonical_ac": "Q15878-1", "uniprot_ac": "Q15878", "uniprot_id": "CAC1E_HUMAN", "mass": { "chemical_mass": 261731.0, "monoisotopic_mass": 261731.0 }, "refseq": { "ac": "NP_000712", "name": "voltage-dependent R-type calcium channel subunit alpha-1E isoform 3", "summary": "Voltage-dependent calcium channels are multisubunit complexes consisting of alpha-1, alpha-2, beta, and delta subunits in a 1:1:1:1 ratio. These channels mediate the entry of calcium ions into excitable cells, and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. This gene encodes the alpha-1E subunit of the R-type calcium channels, which belong to the 'high-voltage activated' group that maybe involved in the modulation of firing patterns of neurons important for information processing. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Apr 2011].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000712" }, "gene_names": [ { "name": "CACNA1E", "type": "recommended", "evidence": [ { "id": "Q15878", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q15878" } ] }, { "name": "BII", "type": "synonym", "evidence": [ { "id": "NP_000712", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000712" } ] }, { "name": "CACH6", "type": "synonym", "evidence": [ { "id": "NP_000712", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000712" }, { "id": "Q15878", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q15878" } ] }, { "name": "CACNA1E", "type": "synonym", "evidence": [ { "id": "NP_000712", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000712" } ] }, { "name": "CACNL1A6", "type": "synonym", "evidence": [ { "id": "NP_000712", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000712" }, { "id": "Q15878", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q15878" } ] }, { "name": "Cav2.3", "type": "synonym", "evidence": [ { "id": "NP_000712", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000712" } ] }, { "name": "DEE69", "type": "synonym", "evidence": [ { "id": "NP_000712", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000712" } ] }, { "name": "EIEE69", "type": "synonym", "evidence": [ { "id": "NP_000712", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000712" } ] }, { "name": "gm139", "type": "synonym", "evidence": [ { "id": "NP_000712", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000712" } ] } ], "protein_names": [ { "name": "Voltage-dependent R-type calcium channel subunit alpha-1E", "type": "recommended", "evidence": [ { "id": "Q15878", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q15878/entry#names_and_taxonomy" } ] }, { "name": "BII", "type": "synonym", "evidence": [ { "id": "Q15878", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q15878/entry#names_and_taxonomy" } ] }, { "name": "Brain calcium channel II", "type": "synonym", "evidence": [ { "id": "Q15878", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q15878/entry#names_and_taxonomy" } ] }, { "name": "Calcium channel, L type, alpha-1 polypeptide, isoform 6", "type": "synonym", "evidence": [ { "id": "Q15878", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q15878/entry#names_and_taxonomy" } ] }, { "name": "Voltage-gated calcium channel subunit alpha Cav2.3", "type": "synonym", "evidence": [ { "id": "Q15878", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q15878/entry#names_and_taxonomy" } ] }, { "name": "brain calcium channel II", "type": "synonym", "evidence": [ { "id": "NP_000712", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000712" } ] }, { "name": "calcium channel, L type, alpha-1 polypeptide", "type": "synonym", "evidence": [ { "id": "NP_000712", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000712" } ] }, { "name": "calcium channel, R type, alpha-1 polypeptide", "type": "synonym", "evidence": [ { "id": "NP_000712", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000712" } ] }, { "name": "voltage-dependent R-type calcium channel subunit alpha-1E isoform 3", "type": "synonym", "evidence": [ { "id": "NP_000712", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000712" } ] }, { "name": "voltage-dependent R-type calcium channel subunit alpha-1E", "type": "synonym", "evidence": [ { "id": "NP_000712", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000712" } ] }, { "name": "voltage-dependent calcium channel alpha 1E subunit", "type": "synonym", "evidence": [ { "id": "NP_000712", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000712" } ] }, { "name": "voltage-gated calcium channel alpha subunit Cav2.3", "type": "synonym", "evidence": [ { "id": "NP_000712", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000712" } ] } ], "function": [ { "annotation": "De novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social cognition deficit but no seizures. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000712", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000712" }, { "database": "PubMed", "id": "34702355", "url": "https://glygen.org/publication/PubMed/34702355" } ] }, { "annotation": "Direct inhibition of CaV2.3 by Gem is dynamin dependent and does not require a direct alfa/beta interaction.", "evidence": [ { "database": "RefSeq", "id": "NP_000712", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000712" }, { "database": "PubMed", "id": "34837834", "url": "https://glygen.org/publication/PubMed/34837834" } ] }, { "annotation": "Epilepsy-linked kinase CDKL5 phosphorylates voltage-gated calcium channel Cav2.3, altering inactivation kinetics and neuronal excitability. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000712", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000712" }, { "database": "PubMed", "id": "38081835", "url": "https://glygen.org/publication/PubMed/38081835" } ] }, { "annotation": "Mutations and clinical significance of calcium voltage-gated channel subunit alpha 1E (CACNA1E) in non-small cell lung cancer. Erratum:[Cell Calcium. 2024 May;119:102866. doi: 10.1016/j.ceca.2024.102866. PMID: 38428281]", "evidence": [ { "database": "RefSeq", "id": "NP_000712", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000712" }, { "database": "PubMed", "id": "35026540", "url": "https://glygen.org/publication/PubMed/35026540" } ] }, { "annotation": "Seizure and movement disorder in CACNA1E developmental and epileptic encephalopathy: Two sides of the same coin or same side of two different coins?", "evidence": [ { "database": "RefSeq", "id": "NP_000712", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000712" }, { "database": "PubMed", "id": "38780451", "url": "https://glygen.org/publication/PubMed/38780451" } ] }, { "annotation": "Voltage-dependent calcium channels are multisubunit complexes consisting of alpha-1, alpha-2, beta, and delta subunits in a 1:1:1:1 ratio. These channels mediate the entry of calcium ions into excitable cells, and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. This gene encodes the alpha-1E subunit of the R-type calcium channels, which belong to the 'high-voltage activated' group that maybe involved in the modulation of firing patterns of neurons important for information processing. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Apr 2011].", "evidence": [ { "database": "RefSeq", "id": "NP_000712", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000712" } ] }, { "annotation": "Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells (PubMed:30343943). They are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. The isoform alpha-1E gives rise to R-type calcium currents. R-type calcium channels belong to the 'high-voltage activated' (HVA) group and are blocked by nickel. They are however insensitive to dihydropyridines (DHP). Calcium channels containing alpha-1E subunit could be involved in the modulation of firing patterns of neurons which is important for information processing.", "evidence": [ { "database": "UniProtKB", "id": "Q15878", "url": "https://www.uniprot.org/uniprotkb/Q15878#function" }, { "database": "PubMed", "id": "7536609", "url": "https://glygen.org/publication/PubMed/7536609" }, { "database": "PubMed", "id": "30343943", "url": "https://glygen.org/publication/PubMed/30343943" } ] }, { "annotation": "Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. The isoform alpha-1E gives rise to R-type calcium currents.", "evidence": [ { "database": "UniProtKB", "id": "F8W9Z1", "url": "https://www.uniprot.org/uniprotkb/F8W9Z1#function" }, { "database": "UniProtKB", "id": "RU003808", "url": "https://www.uniprot.org/uniprotkb/RU003808#function" }, { "database": "UniProtKB", "id": "E9PIE8", "url": "https://www.uniprot.org/uniprotkb/E9PIE8#function" } ] }, { "annotation": "Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells. They are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. The isoform alpha-1E gives rise to R-type calcium currents.", "evidence": [ { "database": "UniProtKB", "id": "Q15878", "url": "https://www.uniprot.org/uniprotkb/Q15878#function" }, { "database": "PubMed", "id": "8071363", "url": "https://glygen.org/publication/PubMed/8071363" } ] } ], "disease": [ { "disease_id": "DOID:0050951", "recommended_name": { "id": "DOID:0050951", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050951", "name": "hereditary ataxia", "description": "A neurodegenerative disease that is characterized by slowly progressive incoordination of gait and often associated with poor coordination of hands, speech, and eye movements." }, "synonyms": [], "unlinked_id_list": [ "DOID:0050953", "DOID:0111828" ], "evidence": [ { "id": "0050951", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050951" } ] }, { "disease_id": "DOID:0111181", "recommended_name": { "id": "DOID:0111181", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111181", "name": "familial hemiplegic migraine 1", "description": "A familial hemiplegic migraine that is commonly associated with cerebellar degeneration and has_material_basis_in heterozygous mutation in CACNA1A on 19p13." }, "synonyms": [ { "id": "DOID:0111181", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111181", "name": "FHM1", "description": "" }, { "id": "DOID:0111181", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111181", "name": "MHP1", "description": "" }, { "id": "DOID:0111181", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111181", "name": "familial hemiplegic migraine1 with progressive cerebellar ataxia", "description": "" }, { "id": "MONDO:0020756", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020756", "name": "migraine, familial hemiplegic, 1", "description": "" }, { "id": "MONDO:0020756", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020756", "name": "FHM1", "description": "" }, { "id": "MONDO:0020756", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020756", "name": "MHP1", "description": "" }, { "id": "MONDO:0020756", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020756", "name": "familial hemiplegic migraine type 1", "description": "" }, { "id": "MONDO:0020756", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020756", "name": "hemiplegic migraine, familial type 1", "description": "" }, { "id": "MONDO:0020756", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020756", "name": "migraine, familial hemiplegic 1, with progressive cerebellar ataxia", "description": "" }, { "id": "MONDO:0020756", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020756", "name": "migraine, familial hemiplegic, 1", "description": "" }, { "id": "MONDO:0020756", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020756", "name": "migraine, familial hemiplegic, 1, with progressive cerebellar ataxia", "description": "" }, { "id": "MONDO:0020756", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020756", "name": "migraine, familial hemiplegic, type 1", "description": "" }, { "id": "MONDO:0020756", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020756", "name": "migraine, sporadic hemiplegic", "description": "" }, { "id": "MIM:141500", "resource": "MIM", "url": "https://www.omim.org/entry/141500", "name": "Migraine, familial hemiplegic, 1", "description": "Migraine, familial hemiplegic, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0111181", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111181" } ] }, { "disease_id": "DOID:0112205", "recommended_name": { "id": "DOID:0112205", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112205", "name": "developmental and epileptic encephalopathy 69", "description": "A developmental and epileptic encephalopathy characterized by early-onset refractory seizures, hypotonia, and profoundly impaired development that has_material_basis_in heterozygous mutation in the CACNA1E gene on chromosome 1q25.3." }, "synonyms": [ { "id": "DOID:0112205", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112205", "name": "DEE69", "description": "" }, { "id": "DOID:0112205", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112205", "name": "early infantile epileptic encephalopathy 69", "description": "" }, { "id": "MONDO:0032657", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0032657", "name": "developmental and epileptic encephalopathy, 69", "description": "" }, { "id": "MONDO:0032657", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0032657", "name": "DEE69", "description": "" }, { "id": "MONDO:0032657", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0032657", "name": "EIEE69", "description": "" }, { "id": "MONDO:0032657", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0032657", "name": "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 69", "description": "" }, { "id": "MONDO:0032657", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0032657", "name": "developmental and epileptic encephalopathy 69", "description": "" }, { "id": "MONDO:0032657", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0032657", "name": "epileptic encephalopathy, early infantile, 69", "description": "" }, { "id": "MIM:618285", "resource": "MIM", "url": "https://www.omim.org/entry/618285", "name": "Developmental and epileptic encephalopathy 69", "description": "Developmental and epileptic encephalopathy 69" } ], "unlinked_id_list": [], "evidence": [ { "id": "618285", "database": "MIM", "url": "https://www.omim.org/entry/618285" }, { "id": "0112205", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112205" } ] }, { "disease_id": "DOID:1826", "recommended_name": { "id": "DOID:1826", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1826", "name": "epilepsy", "description": "A brain disease that is characterized by the occurrance of at least two unprovoked seizures resulting from a persistent epileptogenic abnormality of the brain that is able to spontaneously generate paroxysmal activity and typically manifested by sudden brief episodes of altered or diminished consciousness, involuntary movements, or convulsions." }, "synonyms": [ { "id": "DOID:1826", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1826", "name": "epilepsy syndrome", "description": "" }, { "id": "DOID:1826", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1826", "name": "epileptic syndrome", "description": "" } ], "unlinked_id_list": [ "DOID:3331", "DOID:0050702", "DOID:0060172", "DOID:0050706", "DOID:0050705", "DOID:0050703", "DOID:0050701", "DOID:0060169" ], "evidence": [ { "id": "1826", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1826" } ] }, { "disease_id": "DOID:6364", "recommended_name": { "id": "DOID:6364", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:6364", "name": "migraine", "description": "A brain disease that is characterized by moderate to severe headaches, nausea, extreme sensitivity to light and sound and intense unilaterial throbbing or pulsing." }, "synonyms": [ { "id": "DOID:6364", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:6364", "name": "migraine disorder", "description": "" }, { "id": "DOID:6364", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:6364", "name": "migraine variant", "description": "" }, { "id": "DOID:6364", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:6364", "name": "migraine with or without aura", "description": "" }, { "id": "MONDO:0008000", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008000", "name": "migraine with or without aura, susceptibility to, 1", "description": "" }, { "id": "MONDO:0008000", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008000", "name": "migraine with or without aura, susceptibility to, 1", "description": "" }, { "id": "MONDO:0008000", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008000", "name": "migraine with or without aura, susceptibility to, type 1", "description": "" }, { "id": "MONDO:0008000", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008000", "name": "migraine without aura, susceptibility to", "description": "" }, { "id": "MONDO:0008000", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008000", "name": "migraine, resistance to", "description": "" }, { "id": "MONDO:0008000", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008000", "name": "migraine, susceptibility to", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "6364", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6364" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "53.74", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000198216", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198216" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "42.25", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000198216", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198216" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "45.68", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000198216", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198216" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "45.41", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000198216", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198216" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "47.91", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000198216", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198216" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "41.28", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000198216", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198216" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "41.39", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000198216", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198216" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "32.97", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000198216", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198216" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "34.96", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000198216", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198216" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "40.18", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000198216", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198216" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "https://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "Q15878", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q15878" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "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: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": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO: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:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO: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:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO: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:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO: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:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "https://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "Q15878", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q15878" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "https://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "Q15878", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q15878" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] } ] }, { "significant": "No", "trend": "up", "name": "Head and neck cancer [DO disease name]", "url": "https://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "Q15878", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q15878" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ], "unlinked_id_list": [ "DOID:1542" ], "evidence": [ { "id": "11934", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11934" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Lung cancer [DO disease name]", "url": "https://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "Q15878", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q15878" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "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: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: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": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Breast cancer [DO disease name]", "url": "https://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "Q15878", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q15878" } ], "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://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": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "https://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "Q15878", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q15878" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thyroid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3973", "DOID:0080524", "DOID:0080525" ], "evidence": [ { "id": "1781", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1781" } ] } ] }, { "significant": "No", "trend": "up", "name": "Kidney cancer [DO disease name]", "url": "https://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "Q15878", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q15878" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3675", "DOID:4455" ], "evidence": [ { "id": "263", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:263" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "https://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "Q15878", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q15878" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "3571", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3571" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Uterine cancer [DO disease name]", "url": "https://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "Q15878", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q15878" } ], "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ] }, { "significant": "No", "trend": "up", "name": "Esophageal cancer [DO disease name]", "url": "https://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "Q15878", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q15878" } ], "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Colorectal cancer [DO disease name]", "url": "https://disease-ontology.org/term/DOID:9256", "evidence": [ { "database": "BioXpress", "id": "Q15878", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q15878" } ], "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15878", "url": "https://www.uniprot.org/uniprotkb/Q15878" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "gene": [ { "name": "CACNA1E", "url": "https://www.uniprot.org/uniprotkb/Q15878", "locus": { "chromosome": "1", "start_pos": 181813262, "end_pos": 181317690, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000198216", "url": "https://www.ensembl.org/id/ENSG00000198216" } ] } } ], "crossref": [ { "id": "HGNC:1392", "url": "https://alliancegenome.org/gene/HGNC:1392", "database": "AGR", "categories": [ "Protein Classification" ] }, { "id": "Q15878", "url": "https://alphafold.ebi.ac.uk/entry/Q15878", "database": "AlphaFoldDB", "categories": [] }, { "id": "ENSG00000198216", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198216", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "Q15878", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15878", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "CHEMBL1687682", "url": "https://www.ebi.ac.uk/chembl/target/inspect/CHEMBL1687682", "database": "ChEMBL", "categories": [ "Chemical" ] }, { "id": "CACNA1E", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1E", "database": "GeneCards", "categories": [ "Organism-specific", "Gene Annotation" ] }, { "id": "777", "url": "https://www.ncbi.nlm.nih.gov/gene/777", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "1392", "url": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1392", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "777", "url": "https://hpo.jax.org/browse/gene/NCBIGene:777", "database": "HPO", "categories": [ "Other" ] }, { "id": "3BXL", "url": "https://www.ncbi.nlm.nih.gov/Structure/icn3d/?mmdbid=3BXL&bu=0", "database": "iCn3D", "categories": [ "3D Structure" ] }, { "id": "7XLQ", "url": "https://www.ncbi.nlm.nih.gov/Structure/icn3d/?mmdbid=7XLQ&bu=0", "database": "iCn3D", "categories": [ "3D Structure" ] }, { "id": "7YG5", "url": "https://www.ncbi.nlm.nih.gov/Structure/icn3d/?mmdbid=7YG5&bu=0", "database": "iCn3D", "categories": [ "3D Structure" ] }, { "id": "8EPL", "url": "https://www.ncbi.nlm.nih.gov/Structure/icn3d/?mmdbid=8EPL&bu=0", "database": "iCn3D", "categories": [ "3D Structure" ] }, { "id": "8EPM", "url": "https://www.ncbi.nlm.nih.gov/Structure/icn3d/?mmdbid=8EPM&bu=0", "database": "iCn3D", "categories": [ "3D Structure" ] }, { "id": "1006962", "url": "https://www.iedb.org/epitope/1006962", "database": "IEDB", "categories": [ "Other" ] }, { "id": "1009042", "url": "https://www.iedb.org/epitope/1009042", "database": "IEDB", "categories": [ "Other" ] }, { "id": "1020961", "url": "https://www.iedb.org/epitope/1020961", "database": "IEDB", "categories": [ "Other" ] }, { "id": "1027140", "url": "https://www.iedb.org/epitope/1027140", "database": "IEDB", "categories": [ "Other" ] }, { "id": "1037582", "url": "https://www.iedb.org/epitope/1037582", "database": "IEDB", "categories": [ "Other" ] }, { "id": "1038505", "url": "https://www.iedb.org/epitope/1038505", "database": "IEDB", "categories": [ "Other" ] }, { "id": "1045449", "url": "https://www.iedb.org/epitope/1045449", "database": "IEDB", "categories": [ "Other" ] }, { "id": "1045876", "url": "https://www.iedb.org/epitope/1045876", "database": "IEDB", "categories": [ "Other" ] }, { "id": "1046244", "url": "https://www.iedb.org/epitope/1046244", "database": "IEDB", "categories": [ "Other" ] }, { "id": "1110396", "url": "https://www.iedb.org/epitope/1110396", "database": "IEDB", "categories": [ "Other" ] }, { "id": "1116693", "url": "https://www.iedb.org/epitope/1116693", "database": "IEDB", "categories": [ "Other" ] }, { "id": "1170657", "url": "https://www.iedb.org/epitope/1170657", "database": "IEDB", "categories": [ "Other" ] }, { "id": "1170658", "url": "https://www.iedb.org/epitope/1170658", "database": "IEDB", "categories": [ "Other" ] }, { "id": "1170659", "url": "https://www.iedb.org/epitope/1170659", "database": "IEDB", "categories": [ "Other" ] }, { "id": "1326494", "url": "https://www.iedb.org/epitope/1326494", "database": "IEDB", "categories": [ "Other" ] }, { "id": "1586237", "url": "https://www.iedb.org/epitope/1586237", "database": "IEDB", "categories": [ "Other" ] }, { "id": "1714063", "url": "https://www.iedb.org/epitope/1714063", "database": "IEDB", "categories": [ "Other" ] }, { "id": "1858980", "url": "https://www.iedb.org/epitope/1858980", "database": "IEDB", "categories": [ "Other" ] }, { "id": "1889199", "url": "https://www.iedb.org/epitope/1889199", "database": "IEDB", "categories": [ "Other" ] }, { "id": "2013729", "url": "https://www.iedb.org/epitope/2013729", "database": "IEDB", "categories": [ "Other" ] }, { "id": "2022363", "url": "https://www.iedb.org/epitope/2022363", "database": "IEDB", "categories": [ "Other" ] }, { "id": "2028790", "url": "https://www.iedb.org/epitope/2028790", "database": "IEDB", "categories": [ "Other" ] }, { "id": "2036076", "url": "https://www.iedb.org/epitope/2036076", "database": "IEDB", "categories": [ "Other" ] }, { "id": "2038613", "url": "https://www.iedb.org/epitope/2038613", "database": "IEDB", "categories": [ "Other" ] }, { "id": "2043401", "url": "https://www.iedb.org/epitope/2043401", "database": "IEDB", "categories": [ "Other" ] }, { "id": "2049168", "url": "https://www.iedb.org/epitope/2049168", "database": "IEDB", "categories": [ "Other" ] }, { "id": "2050060", "url": "https://www.iedb.org/epitope/2050060", "database": "IEDB", "categories": [ "Other" ] }, { "id": "2058900", "url": "https://www.iedb.org/epitope/2058900", "database": "IEDB", "categories": [ "Other" ] }, { "id": "209367", "url": "https://www.iedb.org/epitope/209367", "database": "IEDB", "categories": [ "Other" ] }, { "id": "2141425", "url": "https://www.iedb.org/epitope/2141425", "database": "IEDB", "categories": [ "Other" ] }, { "id": "2264812", "url": "https://www.iedb.org/epitope/2264812", "database": "IEDB", "categories": [ "Other" ] }, { "id": "240290", "url": "https://www.iedb.org/epitope/240290", "database": "IEDB", "categories": [ "Other" ] }, { "id": "428297", "url": "https://www.iedb.org/epitope/428297", "database": "IEDB", "categories": [ "Other" ] }, { "id": "490226", "url": "https://www.iedb.org/epitope/490226", "database": "IEDB", "categories": [ "Other" ] }, { "id": "634606", "url": "https://www.iedb.org/epitope/634606", "database": "IEDB", "categories": [ "Other" ] }, { "id": "635298", "url": "https://www.iedb.org/epitope/635298", "database": "IEDB", "categories": [ "Other" ] }, { "id": "640057", "url": "https://www.iedb.org/epitope/640057", "database": "IEDB", "categories": [ "Other" ] }, { "id": "640290", "url": "https://www.iedb.org/epitope/640290", "database": "IEDB", "categories": [ "Other" ] }, { "id": "718420", "url": "https://www.iedb.org/epitope/718420", "database": "IEDB", "categories": [ "Other" ] }, { "id": "775262", "url": "https://www.iedb.org/epitope/775262", "database": "IEDB", "categories": [ "Other" ] }, { "id": "838382", "url": "https://www.iedb.org/epitope/838382", "database": "IEDB", "categories": [ "Other" ] }, { "id": "929101", "url": "https://www.iedb.org/epitope/929101", "database": "IEDB", "categories": [ "Other" ] }, { "id": "Q15878", "url": "https://www.ebi.ac.uk/intact/interactors/id:Q15878*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR002048", "url": "https://www.ebi.ac.uk/interpro/entry/IPR002048", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR002077", "url": "https://www.ebi.ac.uk/interpro/entry/IPR002077", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR005449", "url": "https://www.ebi.ac.uk/interpro/entry/IPR005449", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR005821", "url": "https://www.ebi.ac.uk/interpro/entry/IPR005821", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR014873", "url": "https://www.ebi.ac.uk/interpro/entry/IPR014873", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR027359", "url": "https://www.ebi.ac.uk/interpro/entry/IPR027359", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR031649", "url": "https://www.ebi.ac.uk/interpro/entry/IPR031649", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR050599", "url": "https://www.ebi.ac.uk/interpro/entry/IPR050599", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:777", "url": "https://www.genome.jp/dbget-bin/www_bget?hsa:777", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "601013", "url": "http://www.omim.org/entry/601013", "database": "MIM", "categories": [ "Other" ] }, { "id": "618285", "url": "http://www.omim.org/entry/618285", "database": "MIM", "categories": [ "Other" ] }, { "id": "IRIVRIM", "url": "https://omabrowser.org/oma/group/IRIVRIM/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "A0A2R8Y7W1", "url": "https://www.orthodb.org/?gene=A0A2R8Y7W1", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "A0A8V8TPE9", "url": "https://www.orthodb.org/?gene=A0A8V8TPE9", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "A0A8V8TPU6", "url": "https://www.orthodb.org/?gene=A0A8V8TPU6", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "E9PIE8", "url": "https://www.orthodb.org/?gene=E9PIE8", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "F8W9Z1", "url": "https://www.orthodb.org/?gene=F8W9Z1", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "Q15878", "url": "https://www.orthodb.org/?gene=Q15878", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR45628", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR45628", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR45628:SF5", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR45628:SF5", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "pdb_00003bxl", "url": "https://www.rcsb.org/structure/pdb_00003bxl", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "pdb_00007xlq", "url": "https://www.rcsb.org/structure/pdb_00007xlq", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "pdb_00007yg5", "url": "https://www.rcsb.org/structure/pdb_00007yg5", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "pdb_00008epl", "url": "https://www.rcsb.org/structure/pdb_00008epl", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "pdb_00008epm", "url": "https://www.rcsb.org/structure/pdb_00008epm", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3BXL", "url": "https://www.rcsb.org/structure/3BXL", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7XLQ", "url": "https://www.rcsb.org/structure/7XLQ", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7YG5", "url": "https://www.rcsb.org/structure/7YG5", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "8EPL", "url": "https://www.rcsb.org/structure/8EPL", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "8EPM", "url": "https://www.rcsb.org/structure/8EPM", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF00520", "url": "https://www.ebi.ac.uk/interpro/entry/pfam/PF00520", "database": "Pfam", "categories": [ "Other", "Protein Classification" ] }, { "id": "PF08763", "url": "https://www.ebi.ac.uk/interpro/entry/pfam/PF08763", "database": "Pfam", "categories": [ "Other", "Protein Classification" ] }, { "id": "PF16905", "url": "https://www.ebi.ac.uk/interpro/entry/pfam/PF16905", "database": "Pfam", "categories": [ "Other", "Protein Classification" ] }, { "id": "Q15878", "url": "https://pharos.nih.gov/targets/Q15878", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR:Q15878", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=PR:Q15878", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-112308", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-112308", "database": "Reactome", "categories": [ "Enzyme and Pathway" ] }, { "id": "R-HSA-422356", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-422356", "database": "Reactome", "categories": [ "Enzyme and Pathway" ] }, { "id": "NP_000712", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000712", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "29671", "url": "https://www.rhea-db.org/rhea/29671", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "A0A2R8Y7W1", "url": "https://www.uniprot.org/uniprotkb/A0A2R8Y7W1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A2R8Y7W1-1", "url": "https://www.uniprot.org/uniprotkb/A0A2R8Y7W1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8V8TPE9", "url": "https://www.uniprot.org/uniprotkb/A0A8V8TPE9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8V8TPE9-1", "url": "https://www.uniprot.org/uniprotkb/A0A8V8TPE9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8V8TPU6", "url": "https://www.uniprot.org/uniprotkb/A0A8V8TPU6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8V8TPU6-1", "url": "https://www.uniprot.org/uniprotkb/A0A8V8TPU6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PIE8", "url": "https://www.uniprot.org/uniprotkb/E9PIE8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PIE8-1", "url": "https://www.uniprot.org/uniprotkb/E9PIE8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8W9Z1", "url": "https://www.uniprot.org/uniprotkb/F8W9Z1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8W9Z1-1", "url": "https://www.uniprot.org/uniprotkb/F8W9Z1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q15878", "url": "https://www.uniprot.org/uniprotkb/Q15878", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q15878-1", "url": "https://www.uniprot.org/uniprotkb/Q15878-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q15878-2", "url": "https://www.uniprot.org/uniprotkb/Q15878-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q15878-3", "url": "https://www.uniprot.org/uniprotkb/Q15878-3", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MARFGEAVVARPGSGDGDSDQSRNRQGTPVPASGQAAAYKQTKAQRARTMALYNPIPVRQNCFTVNRSLFIFGEDNIVRKYAKKLIDWPPFEYMILATIIANCIVLALEQHLPEDDKTPMSRRLEKTEPYFIGIFCFEAGIKIVALGFIFHKGSYLRNGWNVMDFIVVLSGILATAGTHFNTHVDLRTLRAVRVLRPLKLVSGIPSLQIVLKSIMKAMVPLLQIGLLLFFAILMFAIIGLEFYSGKLHRACFMNNSGILEGFDPPHPCGVQGCPAGYECKDWIGPNDGITQFDNILFAVLTVFQCITMEGWTTVLYNTNDALGATWNWLYFIPLIIIGSFFVLNLVLGVLSGEFAKERERVENRRAFMKLRRQQQIERELNGYRAWIDKAEEVMLAEENKNAGTSALEVLRRATIKRSRTEAMTRDSSDEHCVDISSVGTPLARASIKSAKVDGVSYFRHKERLLRISIRHMVKSQVFYWIVLSLVALNTACVAIVHHNQPQWLTHLLYYAEFLFLGLFLLEMSLKMYGMGPRLYFHSSFNCFDFGVTVGSIFEVVWAIFRPGTSFGISVLRALRLLRIFKITKYWASLRNLVVSLMSSMKSIISLLFLLFLFIVVFALLGMQLFGGRFNFNDGTPSANFDTFPAAIMTVFQILTGEDWNEVMYNGIRSQGGVSSGMWSAIYFIVLTLFGNYTLLNVFLAIAVDNLANAQELTKDEQEEEEAFNQKHALQKAKEVSPMSAPNMPSIERDRRRRHHMSMWEPRSSHLRERRRRHHMSVWEQRTSQLRKHMQMSSQEALNREEAPTMNPLNPLNPLSSLNPLNAHPSLYRRPRAIEGLALGLALEKFEEERISRGGSLKGDGGDRSSALDNQRTPLSLGQREPPWLARPCHGNCDPTQQEAGGGEAVVTFEDRARHRQSQRRSRHRRVRTEGKESSSASRSRSASQERSLDEAMPTEGEKDHELRGNHGAKEPTIQEERAQDLRRTNSLMVSRGSGLAGGLDEADTPLVLPHPELEVGKHVVLTEQEPEGSSEQALLGNVQLDMGRVISQSEPDLSCITANTDKATTESTSVTVAIPDVDPLVDSTVVHISNKTDGEASPLKEAEIREDEEEVEKKKQKKEKRETGKAMVPHSSMFIFSTTNPIRRACHYIVNLRYFEMCILLVIAASSIALAAEDPVLTNSERNKVLRYFDYVFTGVFTFEMVIKMIDQGLILQDGSYFRDLWNILDFVVVVGALVAFALANALGTNKGRDIKTIKSLRVLRVLRPLKTIKRLPKLKAVFDCVVTSLKNVFNILIVYKLFMFIFAVIAVQLFKGKFFYCTDSSKDTEKECIGNYVDHEKNKMEVKGREWKRHEFHYDNIIWALLTLFTVSTGEGWPQVLQHSVDVTEEDRGPSRSNRMEMSIFYVVYFVVFPFFFVNIFVALIIITFQEQGDKMMEECSLEKNERACIDFAISAKPLTRYMPQNRHTFQYRVWHFVVSPSFEYTIMAMIALNTVVLMMKYYSAPCTYELALKYLNIAFTMVFSLECVLKVIAFGFLNYFRDTWNIFDFITVIGSITEIILTDSKLVNTSGFNMSFLKLFRAARLIKLLRQGYTIRILLWTFVQSFKALPYVCLLIAMLFFIYAIIGMQVFGNIKLDEESHINRHNNFRSFFGSLMLLFRSATGEAWQEIMLSCLGEKGCEPDTTAPSGQNENERCGTDLAYVYFVSFIFFCSFLMLNLFVAVIMDNFEYLTRDSSILGPHHLDEFVRVWAEYDRAACGRIHYTEMYEMLTLMSPPLGLGKRCPSKVAYKRLVLMNMPVAEDMTVHFTSTLMALIRTALDIKIAKGGADRQQLDSELQKETLAIWPHLSQKMLDLLVPMPKASDLTVGKIYAAMMIMDYYKQSKVKKQRQQLEEQKNAPMFQRMEPSSLPQEIIANAKALPYLQQDPVSGLSGRSGYPSMSPLSPQDIFQLACMDPADDGQFQERQSLEPEVSELKSVQPSNHGIYLPSDTQEHAGSGRASSMPRLTVDPQVVTDPSSMRRSFSTIRDKRSNSSWLEEFSMERSSENTYKSRRRSYHSSLRLSAHRLNSDSGHKSDTHRSGGRERGRSKERKHLLSPDVSRCNSEERGTQADWESPERRQSRSPSEGRSQTPNRQGTGSLSESSIPSVSDTSTPRRSRRQLPPVPPKPRPLLSYSSLIRHAGSISPPADGSEEGSPLTSQALESNNACLTESSNSPHPQQSQHASPQRYISEPYLALHEDSHASDCGEEETLTFEAAVATSLGRSNTIGSAPPLRHSWQMPNGHYRRRRRGGPGPGMMCGAVNNLLSDTEEDDKC", "length": 2313, "header": "sp|Q15878-1|CAC1E_HUMAN Isoform 1 of Voltage-dependent R-type calcium channel subunit alpha-1E OS=Homo sapiens OX=9606 GN=CACNA1E PE=1 SV=3 CANONICAL=Q15878-1" }, "isoforms": [ { "isoform_ac": "A0A2R8Y7W1-1", "url": "https://www.uniprot.org/uniprotkb/Q15878/entry#A0A2R8Y7W1-1", "sequence": { "sequence": "MLNLFVAVIMDNFEYLTRDSSILGPHHLDEFVRVWAEYDRAACGRIPYKDMYKLVRVISPPLGLGENCPYRVACKRLVLMNMPVAEDMTVHFTSTLMALIRTALDIKIAK", "length": 110, "header": "tr|A0A2R8Y7W1-1|A0A2R8Y7W1_HUMAN Computationally mapped isoform of Calcium voltage-gated channel subunit alpha1 E OS=Homo sapiens OX=9606 GN=CACNA1E PE=1 SV=1 CANONICAL=Q15878-1" }, "locus": { "chromosome": "1", "start_pos": 181783783, "end_pos": 181776101, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000644521.1", "url": "https://www.ensembl.org/id/ENST00000644521.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000496576.1", "url": "https://www.ensembl.org/id/ENSP00000496576.1" } ] } }, { "isoform_ac": "A0A8V8TPE9-1", "url": "https://www.uniprot.org/uniprotkb/Q15878/entry#A0A8V8TPE9-1", "sequence": { "sequence": "QEALNREEAPTMNPLNPLNPLSSLNPLNAHPSLYRRPRAIEGLALGLALEKFEEERISRGGSLKGDGGDRSSALDNQRTPLSLGQREPPWLARPCHGNCDPTQQEAGGGEAVVTFEDRARHRQSQRRSRHRRVRTEGKESSSASRSRSASQERSLDEAMPTEGEKDHELRGNHGAKEPTIQEERAQDLRRTNSLMVSRGSGLAGGLDEADTPLVLPHPELEVGKHVVLTEQEPEGSSEQALLGNVQLDMGRVISQSEPDLSCITANTDKATTESTSVTVAIPDVDPLVDSTVVHISNKTDGEASPLKEAEIREDEEEVEKKKQKKEKRETGKAMVPHSSMFIFSTTNPIRRACHYIVNLRYFEMCILLVIAASSIALAAEDPVLTNSERNKVLRYFDYVFTGVFTFEMVIKMIDQGLILQDGSYFRDLWNILDFVVVVGALVAFALANALGTNKGRDIKTIKSLRVLRVLRPLKTIKRLPKLKAVFDCVVTSLKNVFNILIVYKLFMFIFAVIAVQLFKGKFFYCTDSSKDTEKECIGNYVDHEKNKMEVKGREWKRHEFHYDNIIWALLTLFTVSTGEGWPQVLQHSVDVTEEDRGPSRSNRMEMSIFYVVYFVVFPFFFVNIFVALIIITFQEQGDKMMEECSLEKNERACIDFAISAKPLTRYMPQNRHTFQYRVWHFVVSPSFEYTIMAMIALNTVVLMMKYYSAPCTYELALKYLNIAFTMVFSLECVLKVIAFGFLNYFRDTWNIFDFITVIGSITEIILTDSKLVNTSGFNMSFLKLFRAARLIKLLRQGYTIRILLWTFVQSFKALPYVCLLIAMLFFIYAIIGMQVFGNIKLDEESHINRHNNFRSFFGSLMLLFRSATGEAWQEIMLSCLGEKGCEPDTTAPSGQNENERCGTDLAYVYFVSFIFFCSFLMLNLFVAVIMDNFEYLTRDSSILGPHHLDEFVRVWAEYDRAAWCVGPSAAPAGPRAKVSGVPREEAGIGATQMPACYRRKGDSS", "length": 1004, "header": "tr|A0A8V8TPE9-1|A0A8V8TPE9_HUMAN Computationally mapped isoform of Calcium voltage-gated channel subunit alpha1 E OS=Homo sapiens OX=9606 GN=CACNA1E PE=1 SV=1 CANONICAL=Q15878-1" }, "locus": { "chromosome": "1", "start_pos": 181776352, "end_pos": 181732466, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000700188.1", "url": "https://www.ensembl.org/id/ENST00000700188.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000514851.1", "url": "https://www.ensembl.org/id/ENSP00000514851.1" } ] } }, { "isoform_ac": "A0A8V8TPU6-1", "url": "https://www.uniprot.org/uniprotkb/Q15878/entry#A0A8V8TPU6-1", "sequence": { "sequence": "PEVSELKSVQPSNHGIYLPSDTQEHAGSGRASSMPRLTVDPQVVTDPSSMRRSFSTIRDKRSNSSWLEEFSMERSSENTYKSRRRSYHSSLRLSAHRLNSDSGHKSDTHRSGGRERGRSKERKHLLSPDVSRCNSEERGTQADWESPERRQSRSPSEGRSQTPNRQVSLR", "length": 170, "header": "tr|A0A8V8TPU6-1|A0A8V8TPU6_HUMAN Computationally mapped isoform of Calcium voltage-gated channel subunit alpha1 E OS=Homo sapiens OX=9606 GN=CACNA1E PE=1 SV=1 CANONICAL=Q15878-1" }, "locus": { "chromosome": "1", "start_pos": 181812329, "end_pos": 181793668, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000700190.1", "url": "https://www.ensembl.org/id/ENST00000700190.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000514852.1", "url": "https://www.ensembl.org/id/ENSP00000514852.1" } ] } }, { "isoform_ac": "E9PIE8-1", "url": "https://www.uniprot.org/uniprotkb/Q15878/entry#E9PIE8-1", "sequence": { "sequence": "MVPEMRGLSPDRRLPEPAPCPAAGSPEPRSAGRRQRHVLALPEEEAWRPQQCALLEADASDEVGMLPASPRAASGFDNFFQVQEGEGQGWEGAMALEAGSSPFLPVSPEVMKRRRGGLIEQRDIIKAHEAHKMQSTPQARRKEWEMARFGEAVVARPGSGDGDSDQSRNRQGTPVPASGQAAAYKQTKAQRARTMALYNPIPVRQNCFTVNRSLFIFGEDNIVRKYAKKLIDWPPFEYMILATIIANCIVLALEQHLPEDDKTPMSRRLEKTEPYFIGIFCFEAGIKIVALGFIFHKGSYLRNGWNVMDFIVVLSGILATAGTHFNTHVDLRTLRAVRVLRPLKLVSGIPSLQIVLKSIMKAMVPLLQIGLLLFFAILMFAIIGLEFYSGKLHRACFMNNSGILEGFDPPHPCGVQGCPAGYECKDWIGPNDGITQFDNILFAVLTVFQCITMEGWTTVLYNTNDALGATWNWLYFIPLIIIGSFFVLNLVLGVLSGEFAKERERVENRRAFMKLRRQQQIERELNGYRAWIDKAEEVMLAEENKNAGTSALEVLRRATIKRSRTEAMTRDSSDEHCVDISSV", "length": 583, "header": "tr|E9PIE8-1|E9PIE8_HUMAN Computationally mapped isoform of Voltage-dependent R-type calcium channel subunit alpha OS=Homo sapiens OX=9606 GN=CACNA1E PE=1 SV=2 CANONICAL=Q15878-1" }, "locus": { "chromosome": "1", "start_pos": 181716128, "end_pos": 181413147, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000524607.6", "url": "https://www.ensembl.org/id/ENST00000524607.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000432038.2", "url": "https://www.ensembl.org/id/ENSP00000432038.2" } ] } }, { "isoform_ac": "F8W9Z1-1", "url": "https://www.uniprot.org/uniprotkb/Q15878/entry#F8W9Z1-1", "sequence": { "sequence": "MARFGEAVVARPGSGDGDSDQSRNRQGTPVPASGQAAAYKQTKAQRARTMALYNPIPVRQNCFTVNRSLFIFGEDNIVRKYAKKLIDWPPFEYMILATIIANCIVLALEQHLPEDDKTPMSRRLEKTEPYFIGIFCFEAGIKIVALGFIFHKGSYLRNGWNVMDFIVVLSGILATAGTHFNTHVDLRTLRAVRVLRPLKLVSGIPSLQIVLKSIMKAMVPLLQIGLLLFFAILMFAIIGLEFYSGKLHRACFMNNSGILEGFDPPHPCGVQGCPAGYECKDWIGPNDGITQFDNILFAVLTVFQCITMEGWTTVLYNTNDALGATWNWLYFIPLIIIGSFFVLNLVLGVLSGEFAKERERVENRRAFMKLRRQQQIERELNGYRAWIDKAEEVMLAEENKNAGTSALEVLRRATIKRSRTEAMTRDSSDEHCVDISSVGTPLARASIKSAKVDGVSYFRHKERLLRISIRHMVKSQVFYWIVLSLVALNTACVAIVHHNQPQWLTHLLYYAEFLFLGLFLLEMSLKMYGMGPRLYFHSSFNCFDFGVTVGSIFEVVWAIFRPGTSFGISVLRALRLLRIFKITKYWASLRNLVVSLMSSMKSIISLLFLLFLFIVVFALLGMQLFGGRFNFNDGTPSANFDTFPAAIMTVFQILTGEDWNEVMYNGIRSQGGVSSGMWSAIYFIVLTLFGNYTLLNVFLAIAVDNLANAQELTKDEQEEEEAFNQKHALQKAKEVSPMSAPNMPSIERERRRRHHMSVWEQRTSQLRKHMQMSSQEALNREEAPTMNPLNPLNPLSSLNPLNAHPSLYRRPRAIEGLALGLALEKFEEERISRGGSLKGDGGDRSSALDNQRTPLSLGQREPPWLARPCHGNCDPTQQEAGGGEAVVTFEDRARHRQSQRRSRHRRVRTEGKESSSASRSRSASQERSLDEAMPTEGEKDHELRGNHGAKEPTIQEERAQDLRRTNSLMVSRGSGLAGGLDEADTPLVLPHPELEVGKHVVLTEQEPEGSSEQALLGNVQLDMGRVISQSEPDLSCITANTDKATTESTSVTVAIPDVDPLVDSTVVHISNKTDGEASPLKEAEIREDEEEVEKKKQKKEKRETGKAMVPHSSMFIFSTTNPIRRACHYIVNLRYFEMCILLVIAASSIALAAEDPVLTNSERNKVLRYFDYVFTGVFTFEMVIKMIDQGLILQDGSYFRDLWNILDFVVVVGALVAFALANALGTNKGRDIKTIKSLRVLRVLRPLKTIKRLPKLKAVFDCVVTSLKNVFNILIVYKLFMFIFAVIAVQLFKGKFFYCTDSSKDTEKECIGNYVDHEKNKMEVKGREWKRHEFHYDNIIWALLTLFTVSTGEGWPQVLQHSVDVTEEDRGPSRSNRMEMSIFYVVYFVVFPFFFVNIFVALIIITFQEQGDKMMEECSLEKNERACIDFAISAKPLTRYMPQNRHTFQYRVWHFVVSPSFEYTIMAMIALNTVVLMMKYYSAPCTYELALKYLNIAFTMVFSLECVLKVIAFGFLNYFRDTWNIFDFITVIGSITEIILTDSKLVNTSGFNMSFLKLFRAARLIKLLRQGYTIRILLWTFVQSFKALPYVCLLIAMLFFIYAIIGMQVFGNIKLDEESHINRHNNFRSFFGSLMLLFRSATGEAWQEIMLSCLGEKGCEPDTTAPSGQNENERCGTDLAYVYFVSFIFFCSFLMLNLFVAVIMDNFEYLTRDSSILGPHHLDEFVRVWAEYDRAACGRIHYTEMYEMLTLMSPPLGLGKRCPSKVAYKRLVLMNMPVAEDMTVHFTSTLMALIRTALDIKIAKGGADRQQLDSELQKETLAIWPHLSQKMLDLLVPMPKASDLTVGKIYAAMMIMDYYKQSKVKKQRQQLEEQKNAPMFQRMEPSSLPQEIIANAKALPYLQQDPVSGLSGRSGYPSMSPLSPQDIFQLACMDPADDGQFQERQSLEPEVSELKSVQPSNHGIYLPSDTQEHAGSGRASSMPRLTVDPQVVTDPSSMRRSFSTIRDKRSNSSWLEEFSMERSSENTYKSRRRSYHSSLRLSAHRLNSDSGHKSDTHRSGGRERGRSKERKHLLSPDVSRCNSEERGTQADWESPERRQSRSPSEGRSQTPNRQGTGSLSESSIPSVSDTSTPRRSRRQLPPVPPKPRPLLSYSSLIRHAGSISPPADGSEEGSPLTSQALESNNACLTESSNSPHPQQSQHASPQRYISEPYLALHEDSHASDCGEEETLTFEAAVATSLGRSNTIGSAPPLRHSWQMPNGHYRRRRRGGPGPGMMCGAVNNLLSDTEEDDKC", "length": 2294, "header": "tr|F8W9Z1-1|F8W9Z1_HUMAN Computationally mapped isoform of Voltage-dependent R-type calcium channel subunit alpha OS=Homo sapiens OX=9606 GN=CACNA1E PE=1 SV=1 CANONICAL=Q15878-1" }, "locus": { "chromosome": "1", "start_pos": 181798831, "end_pos": 181483745, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000360108.7", "url": "https://www.ensembl.org/id/ENST00000360108.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000353222.3", "url": "https://www.ensembl.org/id/ENSP00000353222.3" } ] } }, { "isoform_ac": "Q15878-1", "url": "https://www.uniprot.org/uniprotkb/Q15878/entry#Q15878-1", "sequence": { "sequence": "MARFGEAVVARPGSGDGDSDQSRNRQGTPVPASGQAAAYKQTKAQRARTMALYNPIPVRQNCFTVNRSLFIFGEDNIVRKYAKKLIDWPPFEYMILATIIANCIVLALEQHLPEDDKTPMSRRLEKTEPYFIGIFCFEAGIKIVALGFIFHKGSYLRNGWNVMDFIVVLSGILATAGTHFNTHVDLRTLRAVRVLRPLKLVSGIPSLQIVLKSIMKAMVPLLQIGLLLFFAILMFAIIGLEFYSGKLHRACFMNNSGILEGFDPPHPCGVQGCPAGYECKDWIGPNDGITQFDNILFAVLTVFQCITMEGWTTVLYNTNDALGATWNWLYFIPLIIIGSFFVLNLVLGVLSGEFAKERERVENRRAFMKLRRQQQIERELNGYRAWIDKAEEVMLAEENKNAGTSALEVLRRATIKRSRTEAMTRDSSDEHCVDISSVGTPLARASIKSAKVDGVSYFRHKERLLRISIRHMVKSQVFYWIVLSLVALNTACVAIVHHNQPQWLTHLLYYAEFLFLGLFLLEMSLKMYGMGPRLYFHSSFNCFDFGVTVGSIFEVVWAIFRPGTSFGISVLRALRLLRIFKITKYWASLRNLVVSLMSSMKSIISLLFLLFLFIVVFALLGMQLFGGRFNFNDGTPSANFDTFPAAIMTVFQILTGEDWNEVMYNGIRSQGGVSSGMWSAIYFIVLTLFGNYTLLNVFLAIAVDNLANAQELTKDEQEEEEAFNQKHALQKAKEVSPMSAPNMPSIERDRRRRHHMSMWEPRSSHLRERRRRHHMSVWEQRTSQLRKHMQMSSQEALNREEAPTMNPLNPLNPLSSLNPLNAHPSLYRRPRAIEGLALGLALEKFEEERISRGGSLKGDGGDRSSALDNQRTPLSLGQREPPWLARPCHGNCDPTQQEAGGGEAVVTFEDRARHRQSQRRSRHRRVRTEGKESSSASRSRSASQERSLDEAMPTEGEKDHELRGNHGAKEPTIQEERAQDLRRTNSLMVSRGSGLAGGLDEADTPLVLPHPELEVGKHVVLTEQEPEGSSEQALLGNVQLDMGRVISQSEPDLSCITANTDKATTESTSVTVAIPDVDPLVDSTVVHISNKTDGEASPLKEAEIREDEEEVEKKKQKKEKRETGKAMVPHSSMFIFSTTNPIRRACHYIVNLRYFEMCILLVIAASSIALAAEDPVLTNSERNKVLRYFDYVFTGVFTFEMVIKMIDQGLILQDGSYFRDLWNILDFVVVVGALVAFALANALGTNKGRDIKTIKSLRVLRVLRPLKTIKRLPKLKAVFDCVVTSLKNVFNILIVYKLFMFIFAVIAVQLFKGKFFYCTDSSKDTEKECIGNYVDHEKNKMEVKGREWKRHEFHYDNIIWALLTLFTVSTGEGWPQVLQHSVDVTEEDRGPSRSNRMEMSIFYVVYFVVFPFFFVNIFVALIIITFQEQGDKMMEECSLEKNERACIDFAISAKPLTRYMPQNRHTFQYRVWHFVVSPSFEYTIMAMIALNTVVLMMKYYSAPCTYELALKYLNIAFTMVFSLECVLKVIAFGFLNYFRDTWNIFDFITVIGSITEIILTDSKLVNTSGFNMSFLKLFRAARLIKLLRQGYTIRILLWTFVQSFKALPYVCLLIAMLFFIYAIIGMQVFGNIKLDEESHINRHNNFRSFFGSLMLLFRSATGEAWQEIMLSCLGEKGCEPDTTAPSGQNENERCGTDLAYVYFVSFIFFCSFLMLNLFVAVIMDNFEYLTRDSSILGPHHLDEFVRVWAEYDRAACGRIHYTEMYEMLTLMSPPLGLGKRCPSKVAYKRLVLMNMPVAEDMTVHFTSTLMALIRTALDIKIAKGGADRQQLDSELQKETLAIWPHLSQKMLDLLVPMPKASDLTVGKIYAAMMIMDYYKQSKVKKQRQQLEEQKNAPMFQRMEPSSLPQEIIANAKALPYLQQDPVSGLSGRSGYPSMSPLSPQDIFQLACMDPADDGQFQERQSLEPEVSELKSVQPSNHGIYLPSDTQEHAGSGRASSMPRLTVDPQVVTDPSSMRRSFSTIRDKRSNSSWLEEFSMERSSENTYKSRRRSYHSSLRLSAHRLNSDSGHKSDTHRSGGRERGRSKERKHLLSPDVSRCNSEERGTQADWESPERRQSRSPSEGRSQTPNRQGTGSLSESSIPSVSDTSTPRRSRRQLPPVPPKPRPLLSYSSLIRHAGSISPPADGSEEGSPLTSQALESNNACLTESSNSPHPQQSQHASPQRYISEPYLALHEDSHASDCGEEETLTFEAAVATSLGRSNTIGSAPPLRHSWQMPNGHYRRRRRGGPGPGMMCGAVNNLLSDTEEDDKC", "length": 2313, "header": "sp|Q15878-1|CAC1E_HUMAN Isoform 1 of Voltage-dependent R-type calcium channel subunit alpha-1E OS=Homo sapiens OX=9606 GN=CACNA1E PE=1 SV=3 CANONICAL=Q15878-1" }, "locus": { "chromosome": "1", "start_pos": 181798831, "end_pos": 181483745, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000367573.7", "url": "https://www.ensembl.org/id/ENST00000367573.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000356545.2", "url": "https://www.ensembl.org/id/ENSP00000356545.2" } ] } }, { "isoform_ac": "Q15878-2", "url": "https://www.uniprot.org/uniprotkb/Q15878/entry#Q15878-2", "sequence": { "sequence": "MARFGEAVVARPGSGDGDSDQSRNRQGTPVPASGQAAAYKQTKAQRARTMALYNPIPVRQNCFTVNRSLFIFGEDNIVRKYAKKLIDWPPFEYMILATIIANCIVLALEQHLPEDDKTPMSRRLEKTEPYFIGIFCFEAGIKIVALGFIFHKGSYLRNGWNVMDFIVVLSGILATAGTHFNTHVDLRTLRAVRVLRPLKLVSGIPSLQIVLKSIMKAMVPLLQIGLLLFFAILMFAIIGLEFYSGKLHRACFMNNSGILEGFDPPHPCGVQGCPAGYECKDWIGPNDGITQFDNILFAVLTVFQCITMEGWTTVLYNTNDALGATWNWLYFIPLIIIGSFFVLNLVLGVLSGEFAKERERVENRRAFMKLRRQQQIERELNGYRAWIDKAEEVMLAEENKNAGTSALEVLRRATIKRSRTEAMTRDSSDEHCVDISSVGTPLARASIKSAKVDGVSYFRHKERLLRISIRHMVKSQVFYWIVLSLVALNTACVAIVHHNQPQWLTHLLYYAEFLFLGLFLLEMSLKMYGMGPRLYFHSSFNCFDFGVTVGSIFEVVWAIFRPGTSFGISVLRALRLLRIFKITKYWASLRNLVVSLMSSMKSIISLLFLLFLFIVVFALLGMQLFGGRFNFNDGTPSANFDTFPAAIMTVFQILTGEDWNEVMYNGIRSQGGVSSGMWSAIYFIVLTLFGNYTLLNVFLAIAVDNLANAQELTKDEQEEEEAFNQKHALQKAKEVSPMSAPNMPSIERERRRRHHMSVWEQRTSQLRKHMQMSSQEALNREEAPTMNPLNPLNPLSSLNPLNAHPSLYRRPRAIEGLALGLALEKFEEERISRGGSLKGDGGDRSSALDNQRTPLSLGQREPPWLARPCHGNCDPTQQEAGGGEAVVTFEDRARHRQSQRRSRHRRVRTEGKESSSASRSRSASQERSLDEAMPTEGEKDHELRGNHGAKEPTIQEERAQDLRRTNSLMVSRGSGLAGGLDEADTPLVLPHPELEVGKHVVLTEQEPEGSSEQALLGNVQLDMGRVISQSEPDLSCITANTDKATTESTSVTVAIPDVDPLVDSTVVHISNKTDGEASPLKEAEIREDEEEVEKKKQKKEKRETGKAMVPHSSMFIFSTTNPIRRACHYIVNLRYFEMCILLVIAASSIALAAEDPVLTNSERNKVLRYFDYVFTGVFTFEMVIKMIDQGLILQDGSYFRDLWNILDFVVVVGALVAFALANALGTNKGRDIKTIKSLRVLRVLRPLKTIKRLPKLKAVFDCVVTSLKNVFNILIVYKLFMFIFAVIAVQLFKGKFFYCTDSSKDTEKECIGNYVDHEKNKMEVKGREWKRHEFHYDNIIWALLTLFTVSTGEGWPQVLQHSVDVTEEDRGPSRSNRMEMSIFYVVYFVVFPFFFVNIFVALIIITFQEQGDKMMEECSLEKNERACIDFAISAKPLTRYMPQNRHTFQYRVWHFVVSPSFEYTIMAMIALNTVVLMMKYYSAPCTYELALKYLNIAFTMVFSLECVLKVIAFGFLNYFRDTWNIFDFITVIGSITEIILTDSKLVNTSGFNMSFLKLFRAARLIKLLRQGYTIRILLWTFVQSFKALPYVCLLIAMLFFIYAIIGMQVFGNIKLDEESHINRHNNFRSFFGSLMLLFRSATGEAWQEIMLSCLGEKGCEPDTTAPSGQNENERCGTDLAYVYFVSFIFFCSFLMLNLFVAVIMDNFEYLTRDSSILGPHHLDEFVRVWAEYDRAACGRIHYTEMYEMLTLMSPPLGLGKRCPSKVAYKRLVLMNMPVAEDMTVHFTSTLMALIRTALDIKIAKGGADRQQLDSELQKETLAIWPHLSQKMLDLLVPMPKASDLTVGKIYAAMMIMDYYKQSKVKKQRQQLEEQKNAPMFQRMEPSSLPQEIIANAKALPYLQQDPVSGLSGRSGYPSMSPLSPQDIFQLACMDPADDGQFQERQSLVVTDPSSMRRSFSTIRDKRSNSSWLEEFSMERSSENTYKSRRRSYHSSLRLSAHRLNSDSGHKSDTHRSGGRERGRSKERKHLLSPDVSRCNSEERGTQADWESPERRQSRSPSEGRSQTPNRQGTGSLSESSIPSVSDTSTPRRSRRQLPPVPPKPRPLLSYSSLIRHAGSISPPADGSEEGSPLTSQALESNNACLTESSNSPHPQQSQHASPQRYISEPYLALHEDSHASDCGEEETLTFEAAVATSLGRSNTIGSAPPLRHSWQMPNGHYRRRRRGGPGPGMMCGAVNNLLSDTEEDDKC", "length": 2251, "header": "sp|Q15878-2|CAC1E_HUMAN Isoform 2 of Voltage-dependent R-type calcium channel subunit alpha-1E OS=Homo sapiens OX=9606 GN=CACNA1E PE=1 SV=3 CANONICAL=Q15878-1" }, "locus": { "chromosome": "1", "start_pos": 181798831, "end_pos": 181483745, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000621791.4", "url": "https://www.ensembl.org/id/ENST00000621791.4" }, { "database": "Ensembl Peptide", "id": "ENSP00000481619.1", "url": "https://www.ensembl.org/id/ENSP00000481619.1" } ] } }, { "isoform_ac": "Q15878-3", "url": "https://www.uniprot.org/uniprotkb/Q15878/entry#Q15878-3", "sequence": { "sequence": "MARFGEAVVARPGSGDGDSDQSRNRQGTPVPASGQAAAYKQTKAQRARTMALYNPIPVRQNCFTVNRSLFIFGEDNIVRKYAKKLIDWPPFEYMILATIIANCIVLALEQHLPEDDKTPMSRRLEKTEPYFIGIFCFEAGIKIVALGFIFHKGSYLRNGWNVMDFIVVLSGILATAGTHFNTHVDLRTLRAVRVLRPLKLVSGIPSLQIVLKSIMKAMVPLLQIGLLLFFAILMFAIIGLEFYSGKLHRACFMNNSGILEGFDPPHPCGVQGCPAGYECKDWIGPNDGITQFDNILFAVLTVFQCITMEGWTTVLYNTNDALGATWNWLYFIPLIIIGSFFVLNLVLGVLSGEFAKERERVENRRAFMKLRRQQQIERELNGYRAWIDKAEEVMLAEENKNAGTSALEVLRRATIKRSRTEAMTRDSSDEHCVDISSVGTPLARASIKSAKVDGVSYFRHKERLLRISIRHMVKSQVFYWIVLSLVALNTACVAIVHHNQPQWLTHLLYYAEFLFLGLFLLEMSLKMYGMGPRLYFHSSFNCFDFGVTVGSIFEVVWAIFRPGTSFGISVLRALRLLRIFKITKYWASLRNLVVSLMSSMKSIISLLFLLFLFIVVFALLGMQLFGGRFNFNDGTPSANFDTFPAAIMTVFQILTGEDWNEVMYNGIRSQGGVSSGMWSAIYFIVLTLFGNYTLLNVFLAIAVDNLANAQELTKDEQEEEEAFNQKHALQKAKEVSPMSAPNMPSIERDRRRRHHMSMWEPRSSHLRERRRRHHMSVWEQRTSQLRKHMQMSSQEALNREEAPTMNPLNPLNPLSSLNPLNAHPSLYRRPRAIEGLALGLALEKFEEERISRGGSLKGDGGDRSSALDNQRTPLSLGQREPPWLARPCHGNCDPTQQEAGGGEAVVTFEDRARHRQSQRRSRHRRVRTEGKESSSASRSRSASQERSLDEAMPTEGEKDHELRGNHGAKEPTIQEERAQDLRRTNSLMVSRGSGLAGGLDEADTPLVLPHPELEVGKHVVLTEQEPEGSSEQALLGNVQLDMGRVISQSEPDLSCITANTDKATTESTSVTVAIPDVDPLVDSTVVHISNKTDGEASPLKEAEIREDEEEVEKKKQKKEKRETGKAMVPHSSMFIFSTTNPIRRACHYIVNLRYFEMCILLVIAASSIALAAEDPVLTNSERNKVLRYFDYVFTGVFTFEMVIKMIDQGLILQDGSYFRDLWNILDFVVVVGALVAFALANALGTNKGRDIKTIKSLRVLRVLRPLKTIKRLPKLKAVFDCVVTSLKNVFNILIVYKLFMFIFAVIAVQLFKGKFFYCTDSSKDTEKECIGNYVDHEKNKMEVKGREWKRHEFHYDNIIWALLTLFTVSTGEGWPQVLQHSVDVTEEDRGPSRSNRMEMSIFYVVYFVVFPFFFVNIFVALIIITFQEQGDKMMEECSLEKNERACIDFAISAKPLTRYMPQNRHTFQYRVWHFVVSPSFEYTIMAMIALNTVVLMMKYYSAPCTYELALKYLNIAFTMVFSLECVLKVIAFGFLNYFRDTWNIFDFITVIGSITEIILTDSKLVNTSGFNMSFLKLFRAARLIKLLRQGYTIRILLWTFVQSFKALPYVCLLIAMLFFIYAIIGMQVFGNIKLDEESHINRHNNFRSFFGSLMLLFRSATGEAWQEIMLSCLGEKGCEPDTTAPSGQNENERCGTDLAYVYFVSFIFFCSFLMLNLFVAVIMDNFEYLTRDSSILGPHHLDEFVRVWAEYDRAACGRIHYTEMYEMLTLMSPPLGLGKRCPSKVAYKRLVLMNMPVAEDMTVHFTSTLMALIRTALDIKIAKGGADRQQLDSELQKETLAIWPHLSQKMLDLLVPMPKASDLTVGKIYAAMMIMDYYKQSKVKKQRQQLEEQKNAPMFQRMEPSSLPQEIIANAKALPYLQQDPVSGLSGRSGYPSMSPLSPQDIFQLACMDPADDGQFQERQSLVVTDPSSMRRSFSTIRDKRSNSSWLEEFSMERSSENTYKSRRRSYHSSLRLSAHRLNSDSGHKSDTHRSGGRERGRSKERKHLLSPDVSRCNSEERGTQADWESPERRQSRSPSEGRSQTPNRQGTGSLSESSIPSVSDTSTPRRSRRQLPPVPPKPRPLLSYSSLIRHAGSISPPADGSEEGSPLTSQALESNNACLTESSNSPHPQQSQHASPQRYISEPYLALHEDSHASDCGEEETLTFEAAVATSLGRSNTIGSAPPLRHSWQMPNGHYRRRRRGGPGPGMMCGAVNNLLSDTEEDDKC", "length": 2270, "header": "sp|Q15878-3|CAC1E_HUMAN Isoform 3 of Voltage-dependent R-type calcium channel subunit alpha-1E OS=Homo sapiens OX=9606 GN=CACNA1E PE=1 SV=3 CANONICAL=Q15878-1" }, "locus": { "chromosome": "1", "start_pos": 181798831, "end_pos": 181483745, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000367570.6", "url": "https://www.ensembl.org/id/ENST00000367570.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000356542.1", "url": "https://www.ensembl.org/id/ENSP00000356542.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 1180, "start_aa": "Ser", "end_pos": 1180, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1180", "evidence": [ { "id": "38253038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38253038" }, { "id": "Q15878", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q15878" } ], "filter_code": "00000000000000010000.0000000.00000001000000.1000000.0100000000.110100100001111011.10000.01001" }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "other", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 1566, "start_aa": "Asn", "end_pos": 1566, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1566", "evidence": [ { "id": "Q15878", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q15878#ptm_processing" } ], "filter_code": "00100000000000000000.00010000000000.0.01001" }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "other", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 1571, "start_aa": "Asn", "end_pos": 1571, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1571", "evidence": [ { "id": "Q15878", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q15878#ptm_processing" } ], "filter_code": "00100000000000000000.00010000000000.0.01000" }, { "glytoucan_ac": "G80920RR", "type": "N-linked", "subtype": "other", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "RSNSSWLEEFSMERSSENTYK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 2030, "start_aa": "Asn", "end_pos": 2030, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2030", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000888", "database": "Data Submission", "url": "http://data.glygen.org/GLY_000888" } ], "filter_code": "00100000000000000000.0000000.00010000000000.0100000.1100000000.110111110111111110.00010.01001" }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "other", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 254, "start_aa": "Asn", "end_pos": 254, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn254", "evidence": [ { "id": "Q15878", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q15878#ptm_processing" } ], "filter_code": "00100000000000000000.00010000000000.0.01001" } ], "phosphorylation": [ { "start_pos": 1097, "end_pos": 1097, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q15878", "url": "https://www.uniprot.org/uniprotkb/Q15878" } ], "site_lbl": "Ser1097" }, { "start_pos": 14, "end_pos": 14, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q15878", "url": "https://www.uniprot.org/uniprotkb/Q15878" } ], "site_lbl": "Ser14" }, { "start_pos": 19, "end_pos": 19, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q15878", "url": "https://www.uniprot.org/uniprotkb/Q15878" } ], "site_lbl": "Ser19" }, { "start_pos": 2094, "end_pos": 2094, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q15878", "url": "https://www.uniprot.org/uniprotkb/Q15878" } ], "site_lbl": "Ser2094" }, { "start_pos": 2113, "end_pos": 2113, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q15878", "url": "https://www.uniprot.org/uniprotkb/Q15878" } ], "site_lbl": "Ser2113" }, { "start_pos": 427, "end_pos": 427, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q15878", "url": "https://www.uniprot.org/uniprotkb/Q15878" } ], "site_lbl": "Ser427" }, { "start_pos": 440, "end_pos": 440, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "Q15878", "url": "https://www.uniprot.org/uniprotkb/Q15878" } ], "site_lbl": "Thr440" }, { "start_pos": 736, "end_pos": 736, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q15878", "url": "https://www.uniprot.org/uniprotkb/Q15878" } ], "site_lbl": "Ser736" }, { "start_pos": 745, "end_pos": 745, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q15878", "url": "https://www.uniprot.org/uniprotkb/Q15878" } ], "site_lbl": "Ser745" }, { "start_pos": 793, "end_pos": 793, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q15878", "url": "https://www.uniprot.org/uniprotkb/Q15878" } ], "site_lbl": "Ser793" }, { "start_pos": 815, "end_pos": 815, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q15878", "url": "https://www.uniprot.org/uniprotkb/Q15878" } ], "site_lbl": "Ser815" }, { "start_pos": 855, "end_pos": 855, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q15878", "url": "https://www.uniprot.org/uniprotkb/Q15878" } ], "site_lbl": "Ser855" }, { "start_pos": 947, "end_pos": 947, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q15878", "url": "https://www.uniprot.org/uniprotkb/Q15878" } ], "site_lbl": "Ser947" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_predicted", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Deep quantitative glycoproteomics reveals gut microbiome induced remodeling of the brain glycoproteome", "journal": "bioRxiv", "date": "2023", "authors": "Potel C.M., Burtscher M.L., Garrido-Rodriguez M., Brauer-Nikonow A., Becher I., Typas A., Zimmermann M., Savitski M.", "evidence": [ { "database": "Data Submission", "id": "GLY_000888", "url": "http://data.glygen.org/GLY_000888" } ], "reference": [ { "type": "DOI", "id": "10.1101/2023.09.13.557529", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" } ] }, { "title": "The structure and function of the ATP-sensitive K+ channel in insulin-secreting pancreatic beta-cells.", "journal": "Journal of molecular endocrinology", "date": "1999", "authors": "Miki T, Nagashima K, Seino S", "evidence": [ { "database": "Reactome", "id": "R-HSA-422356", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-422356" } ], "reference": [ { "type": "PubMed", "id": "10194514", "url": "https://glygen.org/publication/PubMed/10194514" } ] }, { "title": "Two regions of sulfonylurea receptor specify the spontaneous bursting and ATP inhibition of KATP channel isoforms.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Babenko AP, Gonzalez G, Bryan J", "evidence": [ { "database": "Reactome", "id": "R-HSA-422356", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-422356" } ], "reference": [ { "type": "PubMed", "id": "10206966", "url": "https://glygen.org/publication/PubMed/10206966" } ] }, { "title": "Identification of the high-affinity tolbutamide site on the SUR1 subunit of the K(ATP) channel.", "journal": "Diabetes", "date": "1999", "authors": "Ashfield R, Gribble FM, Ashcroft SJ, Ashcroft FM", "evidence": [ { "database": "Reactome", "id": "R-HSA-422356", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-422356" } ], "reference": [ { "type": "PubMed", "id": "10342826", "url": "https://glygen.org/publication/PubMed/10342826" } ] }, { "title": "Immunohistochemical detection of alpha1E voltage-gated Ca(2+) channel isoforms in cerebellum, INS-1 cells, and neuroendocrine cells of the digestive system.", "journal": "The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society", "date": "1999", "authors": "Grabsch H, Pereverzev A, Weiergraber M, Schramm M, Henry M, Vajna R, Beattie RE, Volsen SG, Klockner U, Hescheler J, Schneider T", "evidence": [ { "database": "Reactome", "id": "R-HSA-422356", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-422356" } ], "reference": [ { "type": "PubMed", "id": "10424882", "url": "https://glygen.org/publication/PubMed/10424882" } ] }, { "title": "The tolbutamide site of SUR1 and a mechanism for its functional coupling to K(ATP) channel closure.", "journal": "FEBS letters", "date": "1999", "authors": "Babenko AP, Gonzalez G, Bryan J", "evidence": [ { "database": "Reactome", "id": "R-HSA-422356", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-422356" } ], "reference": [ { "type": "PubMed", "id": "10526167", "url": "https://glygen.org/publication/PubMed/10526167" } ] }, { "title": "Pancreatic beta-cell K(ATP) channel activity and membrane-binding studies with nateglinide: A comparison with sulfonylureas and repaglinide.", "journal": "The Journal of pharmacology and experimental therapeutics", "date": "2000", "authors": "Hu S, Wang S, Fanelli B, Bell PA, Dunning BE, Geisse S, Schmitz R, Boettcher BR", "evidence": [ { "database": "Reactome", "id": "R-HSA-422356", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-422356" } ], "reference": [ { "type": "PubMed", "id": "10773014", "url": "https://glygen.org/publication/PubMed/10773014" } ] }, { "title": "Sulfonylurea receptor 1 and Kir6.2 expression in the novel human insulin-secreting cell line NES2Y.", "journal": "Diabetes", "date": "2000", "authors": "Macfarlane WM, O'Brien RE, Barnes PD, Shepherd RM, Cosgrove KE, Lindley KJ, Aynsley-Green A, James RF, Docherty K, Dunne MJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-422356", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-422356" } ], "reference": [ { "type": "PubMed", "id": "10866047", "url": "https://glygen.org/publication/PubMed/10866047" } ] }, { "title": "Diverse roles of K(ATP) channels learned from Kir6.2 genetically engineered mice.", "journal": "Diabetes", "date": "2000", "authors": "Seino S, Iwanaga T, Nagashima K, Miki T", "evidence": [ { "database": "Reactome", "id": "R-HSA-422356", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-422356" } ], "reference": [ { "type": "PubMed", "id": "10868950", "url": "https://glygen.org/publication/PubMed/10868950" } ] }, { "title": "Triggering and amplifying pathways of regulation of insulin secretion by glucose.", "journal": "Diabetes", "date": "2000", "authors": "Henquin JC", "evidence": [ { "database": "Reactome", "id": "R-HSA-422356", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-422356" } ], "reference": [ { "type": "PubMed", "id": "11078440", "url": "https://glygen.org/publication/PubMed/11078440" } ] }, { "title": "Gliclazide modified release: from once-daily administration to 24-hour blood glucose control.", "journal": "Metabolism: clinical and experimental", "date": "2000", "authors": "Harrower A", "evidence": [ { "database": "Reactome", "id": "R-HSA-422356", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-422356" } ], "reference": [ { "type": "PubMed", "id": "11078469", "url": "https://glygen.org/publication/PubMed/11078469" } ] }, { "title": "Initial sequencing and analysis of the human genome.", "journal": "Nature", "date": "2001", "authors": "Lander ES, Linton LM, Birren B, Nusbaum C, Zody MC, Baldwin J, Devon K, Dewar K, Doyle M, FitzHugh W, Funke R, Gage D, Harris K, Heaford A, Howland J, Kann L, Lehoczky J, LeVine R, McEwan P, McKernan K, Meldrim J, Mesirov JP, Miranda C, Morris W, Naylor J, Raymond C, Rosetti M, Santos R, Sheridan A, Sougnez C, Stange-Thomann Y, Stojanovic N, Subramanian A, Wyman D, Rogers J, Sulston J, Ainscough R, Beck S, Bentley D, Burton J, Clee C, Carter N, Coulson A, Deadman R, Deloukas P, Dunham A, Dunham I, Durbin R, French L, Grafham D, Gregory S, Hubbard T, Humphray S, Hunt A, Jones M, Lloyd C, McMurray A, Matthews L, Mercer S, Milne S, Mullikin JC, Mungall A, Plumb R, Ross M, Shownkeen R, Sims S, Waterston RH, Wilson RK, Hillier LW, McPherson JD, Marra MA, Mardis ER, Fulton LA, Chinwalla AT, Pepin KH, Gish WR, Chissoe SL, Wendl MC, Delehaunty KD, Miner TL, Delehaunty A, Kramer JB, Cook LL, Fulton RS, Johnson DL, Minx PJ, Clifton SW, Hawkins T, Branscomb E, Predki P, Richardson P, Wenning S, Slezak T, Doggett N, Cheng JF, Olsen A, Lucas S, Elkin C, Uberbacher E, Frazier M, Gibbs RA, Muzny DM, Scherer SE, Bouck JB, Sodergren EJ, Worley KC, Rives CM, Gorrell JH, Metzker ML, Naylor SL, Kucherlapati RS, Nelson DL, Weinstock GM, Sakaki Y, Fujiyama A, Hattori M, Yada T, Toyoda A, Itoh T, Kawagoe C, Watanabe H, Totoki Y, Taylor T, Weissenbach J, Heilig R, Saurin W, Artiguenave F, Brottier P, Bruls T, Pelletier E, Robert C, Wincker P, Smith DR, Doucette-Stamm L, Rubenfield M, Weinstock K, Lee HM, Dubois J, Rosenthal A, Platzer M, Nyakatura G, Taudien S, Rump A, Yang H, Yu J, Wang J, Huang G, Gu J, Hood L, Rowen L, Madan A, Qin S, Davis RW, Federspiel NA, Abola AP, Proctor MJ, Myers RM, Schmutz J, Dickson M, Grimwood J, Cox DR, Olson MV, Kaul R, Raymond C, Shimizu N, Kawasaki K, Minoshima S, Evans GA, Athanasiou M, Schultz R, Roe BA, Chen F, Pan H, Ramser J, Lehrach H, Reinhardt R, McCombie WR, de la Bastide M, Dedhia N, Blocker H, Hornischer K, Nordsiek G, Agarwala R, Aravind L, Bailey JA, Bateman A, Batzoglou S, Birney E, Bork P, Brown DG, Burge CB, Cerutti L, Chen HC, Church D, Clamp M, Copley RR, Doerks T, Eddy SR, Eichler EE, Furey TS, Galagan J, Gilbert JG, Harmon C, Hayashizaki Y, Haussler D, Hermjakob H, Hokamp K, Jang W, Johnson LS, Jones TA, Kasif S, Kaspryzk A, Kennedy S, Kent WJ, Kitts P, Koonin EV, Korf I, Kulp D, Lancet D, Lowe TM, McLysaght A, Mikkelsen T, Moran JV, Mulder N, Pollara VJ, Ponting CP, Schuler G, Schultz J, Slater G, Smit AF, Stupka E, Szustakowki J, Thierry-Mieg D, Thierry-Mieg J, Wagner L, Wallis J, Wheeler R, Williams A, Wolf YI, Wolfe KH, Yang SP, Yeh RF, Collins F, Guyer MS, Peterson J, Felsenfeld A, Wetterstrand KA, Patrinos A, Morgan MJ, de Jong P, Catanese JJ, Osoegawa K, Shizuya H, Choi S, Chen YJ, Szustakowki J", "evidence": [ { "database": "UniProtKB", "id": "F8W9Z1", "url": "https://www.uniprot.org/uniprotkb/F8W9Z1" } ], "reference": [ { "type": "PubMed", "id": "11237011", "url": "https://glygen.org/publication/PubMed/11237011" } ] }, { "title": "Effects of mitiglinide (S 21403) on Kir6.2/SUR1, Kir6.2/SUR2A and Kir6.2/SUR2B types of ATP-sensitive potassium channel.", "journal": "British journal of pharmacology", "date": "2001", "authors": "Reimann F, Proks P, Ashcroft FM", "evidence": [ { "database": "Reactome", "id": "R-HSA-422356", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-422356" } ], "reference": [ { "type": "PubMed", "id": "11264248", "url": "https://glygen.org/publication/PubMed/11264248" } ] }, { "title": "Repaglinide: a review of its therapeutic use in type 2 diabetes mellitus.", "journal": "Drugs", "date": "2001", "authors": "Culy CR, Jarvis B", "evidence": [ { "database": "Reactome", "id": "R-HSA-422356", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-422356" } ], "reference": [ { "type": "PubMed", "id": "11577798", "url": "https://glygen.org/publication/PubMed/11577798" } ] }, { "title": "The effects of mitiglinide (KAD-1229), a new anti-diabetic drug, on ATP-sensitive K+ channels and insulin secretion: comparison with the sulfonylureas and nateglinide.", "journal": "European journal of pharmacology", "date": "2001", "authors": "Sunaga Y, Gonoi T, Shibasaki T, Ichikawa K, Kusama H, Yano H, Seino S", "evidence": [ { "database": "Reactome", "id": "R-HSA-422356", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-422356" } ], "reference": [ { "type": "PubMed", "id": "11716850", "url": "https://glygen.org/publication/PubMed/11716850" } ] }, { "title": "GLUT2 in pancreatic and extra-pancreatic gluco-detection (review).", "journal": "Molecular membrane biology", "date": "2001", "authors": "Thorens B", "evidence": [ { "database": "Reactome", "id": "R-HSA-422356", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-422356" } ], "reference": [ { "type": "PubMed", "id": "11780755", "url": "https://glygen.org/publication/PubMed/11780755" } ] }, { "title": "Molecular determinants of regulated exocytosis.", "journal": "Diabetes", "date": "2002", "authors": "Gerber SH, Sudhof TC", "evidence": [ { "database": "Reactome", "id": "R-HSA-422356", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-422356" } ], "reference": [ { "type": "PubMed", "id": "11815450", "url": "https://glygen.org/publication/PubMed/11815450" } ] }, { "title": "Signals and pools underlying biphasic insulin secretion.", "journal": "Diabetes", "date": "2002", "authors": "Henquin JC, Ishiyama N, Nenquin M, Ravier MA, Jonas JC", "evidence": [ { "database": "Reactome", "id": "R-HSA-422356", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-422356" } ], "reference": [ { "type": "PubMed", "id": "11815460", "url": "https://glygen.org/publication/PubMed/11815460" } ] }, { "title": "A subset of 50 secretory granules in close contact with L-type Ca2+ channels accounts for first-phase insulin secretion in mouse beta-cells.", "journal": "Diabetes", "date": "2002", "authors": "Barg S, Eliasson L, Renstrom E, Rorsman P", "evidence": [ { "database": "Reactome", "id": "R-HSA-422356", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-422356" } ], "reference": [ { "type": "PubMed", "id": "11815462", "url": "https://glygen.org/publication/PubMed/11815462" } ] }, { "title": "Triggering and augmentation mechanisms, granule pools, and biphasic insulin secretion.", "journal": "Diabetes", "date": "2002", "authors": "Bratanova-Tochkova TK, Cheng H, Daniel S, Gunawardana S, Liu YJ, Mulvaney-Musa J, Schermerhorn T, Straub SG, Yajima H, Sharp GW", "evidence": [ { "database": "Reactome", "id": "R-HSA-422356", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-422356" } ], "reference": [ { "type": "PubMed", "id": "11815463", "url": "https://glygen.org/publication/PubMed/11815463" } ] }, { "title": "Norepinephrine inhibits glucose-stimulated, Ca2+-independent insulin release independently from its action on adenylyl cyclase.", "journal": "Endocrine journal", "date": "2001", "authors": "Yajima H, Komatsu M, Sato Y, Yamada S, Yamauchi K, Sharp GW, Aizawa T, Hashizume K", "evidence": [ { "database": "Reactome", "id": "R-HSA-422356", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-422356" } ], "reference": [ { "type": "PubMed", "id": "11873862", "url": "https://glygen.org/publication/PubMed/11873862" } ] }, { "title": "Differential interactions of nateglinide and repaglinide on the human beta-cell sulphonylurea receptor 1.", "journal": "Diabetes", "date": "2002", "authors": "Hansen AM, Christensen IT, Hansen JB, Carr RD, Ashcroft FM, Wahl P", "evidence": [ { "database": "Reactome", "id": "R-HSA-422356", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-422356" } ], "reference": [ { "type": "PubMed", "id": "12196472", "url": "https://glygen.org/publication/PubMed/12196472" } ] }, { "title": "Synaptosome-associated protein of 25 kilodaltons modulates Kv2.1 voltage-dependent K(+) channels in neuroendocrine islet beta-cells through an interaction with the channel N terminus.", "journal": "Molecular endocrinology (Baltimore, Md.)", "date": "2002", "authors": "MacDonald PE, Wang G, Tsuk S, Dodo C, Kang Y, Tang L, Wheeler MB, Cattral MS, Lakey JR, Salapatek AM, Lotan I, Gaisano HY", "evidence": [ { "database": "Reactome", "id": "R-HSA-422356", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-422356" } ], "reference": [ { "type": "PubMed", "id": "12403834", "url": "https://glygen.org/publication/PubMed/12403834" } ] }, { "title": "Sulfonylurea stimulation of insulin secretion.", "journal": "Diabetes", "date": "2002", "authors": "Proks P, Reimann F, Green N, Gribble F, Ashcroft F", "evidence": [ { "database": "Reactome", "id": "R-HSA-422356", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-422356" } ], "reference": [ { "type": "PubMed", "id": "12475777", "url": "https://glygen.org/publication/PubMed/12475777" } ] }, { "title": "Protein acylation in the inhibition of insulin secretion by norepinephrine, somatostatin, galanin, and PGE2.", "journal": "American journal of physiology. Endocrinology and metabolism", "date": "2003", "authors": "Cheng H, Straub SG, Sharp GW", "evidence": [ { "database": "Reactome", "id": "R-HSA-422356", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-422356" } ], "reference": [ { "type": "PubMed", "id": "12684222", "url": "https://glygen.org/publication/PubMed/12684222" } ] }, { "title": "Nateglinide: A structurally novel, short-acting, hypoglycemic agent.", "journal": "Drugs of today (Barcelona, Spain : 1998)", "date": "2001", "authors": "Norman P, Rabasseda X", "evidence": [ { "database": "Reactome", "id": "R-HSA-422356", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-422356" } ], "reference": [ { "type": "PubMed", "id": "12764427", "url": "https://glygen.org/publication/PubMed/12764427" } ] }, { "title": "Insulin secretion by 'kiss-and-run' exocytosis in clonal pancreatic islet beta-cells.", "journal": "Biochemical Society transactions", "date": "2003", "authors": "Tsuboi T, Rutter GA", "evidence": [ { "database": "Reactome", "id": "R-HSA-422356", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-422356" } ], "reference": [ { "type": "PubMed", "id": "12887316", "url": "https://glygen.org/publication/PubMed/12887316" } ] }, { "title": "Cloning of the alpha 1 subunit of a voltage-dependent calcium channel expressed in pancreatic beta cells.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1992", "authors": "Seino S, Chen L, Seino M, Blondel O, Takeda J, Johnson JH, Bell GI", "evidence": [ { "database": "Reactome", "id": "R-HSA-422356", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-422356" } ], "reference": [ { "type": "PubMed", "id": "1309948", "url": "https://glygen.org/publication/PubMed/1309948" } ] }, { "title": "Studies on the mechanism of tolbutamide hypoglycemia in animal and human subjects.", "journal": "Annals of the New York Academy of Sciences", "date": "1957", "authors": "RECANT L, FISCHER GL", "evidence": [ { "database": "Reactome", "id": "R-HSA-422356", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-422356" } ], "reference": [ { "type": "PubMed", "id": "13459201", "url": "https://glygen.org/publication/PubMed/13459201" } ] }, { "title": "Inhibition of insulin secretion via distinct signaling pathways in alpha2-adrenoceptor knockout mice.", "journal": "European journal of endocrinology", "date": "2003", "authors": "Peterhoff M, Sieg A, Brede M, Chao CM, Hein L, Ullrich S", "evidence": [ { "database": "Reactome", "id": "R-HSA-422356", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-422356" } ], "reference": [ { "type": "PubMed", "id": "14514350", "url": "https://glygen.org/publication/PubMed/14514350" } ] }, { "title": "Voltage-operated calcium channel heterogeneity in pancreatic beta cells: physiopathological implications.", "journal": "Journal of bioenergetics and biomembranes", "date": "2003", "authors": "Sher E, Giovannini F, Codignola A, Passafaro M, Giorgi-Rossi P, Volsen S, Craig P, Davalli A, Carrera P", "evidence": [ { "database": "Reactome", "id": "R-HSA-422356", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-422356" } ], "reference": [ { "type": "PubMed", "id": "15000528", "url": "https://glygen.org/publication/PubMed/15000528" } ] }, { "title": "Mutations in EFHC1 cause juvenile myoclonic epilepsy.", "journal": "Nat. Genet.", "date": "2004", "authors": "Suzuki T, Delgado-Escueta AV, Aguan K, Alonso ME, Shi J, Hara Y, Nishida M, Numata T, Medina MT, Takeuchi T, Morita R, Bai D, Ganesh S, Sugimoto Y, Inazawa J, Bailey JN, Ochoa A, Jara-Prado A, Rasmussen A, Ramos-Peek J, Cordova S, Rubio-Donnadieu F, Inoue Y, Osawa M, Kaneko S, Oguni H, Mori Y, Yamakawa K", "evidence": [ { "database": "UniProtKB", "id": "Q15878", "url": "https://www.uniprot.org/uniprotkb/Q15878" } ], "reference": [ { "type": "PubMed", "id": "15258581", "url": "https://glygen.org/publication/PubMed/15258581" } ] }, { "title": "GUIDE study: double-blind comparison of once-daily gliclazide MR and glimepiride in type 2 diabetic patients.", "journal": "European journal of clinical investigation", "date": "2004", "authors": "Schernthaner G, Grimaldi A, Di Mario U, Drzewoski J, Kempler P, Kvapil M, Novials A, Rottiers R, Rutten GE, Shaw KM", "evidence": [ { "database": "Reactome", "id": "R-HSA-422356", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-422356" } ], "reference": [ { "type": "PubMed", "id": "15305887", "url": "https://glygen.org/publication/PubMed/15305887" } ] }, { "title": "Modal gating of human CaV2.1 (P/Q-type) calcium channels: I. The slow and the fast gating modes and their modulation by beta subunits.", "journal": "The Journal of general physiology", "date": "2004", "authors": "Luvisetto S, Fellin T, Spagnolo M, Hivert B, Brust PF, Harpold MM, Stauderman KA, Williams ME, Pietrobon D", "evidence": [ { "database": "Reactome", "id": "R-HSA-422356", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-422356" } ], "reference": [ { "type": "PubMed", "id": "15504896", "url": "https://glygen.org/publication/PubMed/15504896" } ] }, { "title": "Insulin secretion: a high-affinity Ca2+ sensor after all?", "journal": "The Journal of general physiology", "date": "2004", "authors": "Barg S, Rorsman P", "evidence": [ { "database": "Reactome", "id": "R-HSA-422356", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-422356" } ], "reference": [ { "type": "PubMed", "id": "15572341", "url": "https://glygen.org/publication/PubMed/15572341" } ] }, { "title": "Beta-cell CaV channel regulation in physiology and pathophysiology.", "journal": "American journal of physiology. Endocrinology and metabolism", "date": "2005", "authors": "Yang SN, Berggren PO", "evidence": [ { "database": "Reactome", "id": "R-HSA-422356", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-422356" } ], "reference": [ { "type": "PubMed", "id": "15585596", "url": "https://glygen.org/publication/PubMed/15585596" } ] }, { "title": "Kir6.2-dependent high-affinity repaglinide binding to beta-cell K(ATP) channels.", "journal": "British journal of pharmacology", "date": "2005", "authors": "Hansen AM, Hansen JB, Carr RD, Ashcroft FM, Wahl P", "evidence": [ { "database": "Reactome", "id": "R-HSA-422356", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-422356" } ], "reference": [ { "type": "PubMed", "id": "15678092", "url": "https://glygen.org/publication/PubMed/15678092" } ] }, { "title": "A novel KCNJ11 mutation associated with congenital hyperinsulinism reduces the intrinsic open probability of beta-cell ATP-sensitive potassium channels.", "journal": "The Journal of biological chemistry", "date": "2006", "authors": "Lin YW, MacMullen C, Ganguly A, Stanley CA, Shyng SL", "evidence": [ { "database": "Reactome", "id": "R-HSA-422356", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-422356" } ], "reference": [ { "type": "PubMed", "id": "16332676", "url": "https://glygen.org/publication/PubMed/16332676" } ] }, { "title": "Impaired gene and protein expression of exocytotic soluble N-ethylmaleimide attachment protein receptor complex proteins in pancreatic islets of type 2 diabetic patients.", "journal": "Diabetes", "date": "2006", "authors": "Ostenson CG, Gaisano H, Sheu L, Tibell A, Bartfai T", "evidence": [ { "database": "Reactome", "id": "R-HSA-422356", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-422356" } ], "reference": [ { "type": "PubMed", "id": "16443778", "url": "https://glygen.org/publication/PubMed/16443778" } ] }, { "title": "Characterization of voltage-dependent sodium and calcium channels in mouse pancreatic A- and B-cells.", "journal": "The Journal of physiology", "date": "2006", "authors": "Vignali S, Leiss V, Karl R, Hofmann F, Welling A", "evidence": [ { "database": "Reactome", "id": "R-HSA-422356", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-422356" } ], "reference": [ { "type": "PubMed", "id": "16513675", "url": "https://glygen.org/publication/PubMed/16513675" } ] }, { "title": "Minireview: implication of mitochondria in insulin secretion and action.", "journal": "Endocrinology", "date": "2006", "authors": "Wiederkehr A, Wollheim CB", "evidence": [ { "database": "Reactome", "id": "R-HSA-422356", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-422356" } ], "reference": [ { "type": "PubMed", "id": "16556766", "url": "https://glygen.org/publication/PubMed/16556766" } ] }, { "title": "Insulin vesicle release: walk, kiss, pause ... then run.", "journal": "Physiology (Bethesda, Md.)", "date": "2006", "authors": "Rutter GA, Hill EV", "evidence": [ { "database": "Reactome", "id": "R-HSA-422356", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-422356" } ], "reference": [ { "type": "PubMed", "id": "16714477", "url": "https://glygen.org/publication/PubMed/16714477" } ] }, { "title": "The role of voltage-gated calcium channels in pancreatic beta-cell physiology and pathophysiology.", "journal": "Endocrine reviews", "date": "2006", "authors": "Yang SN, Berggren PO", "evidence": [ { "database": "Reactome", "id": "R-HSA-422356", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-422356" } ], "reference": [ { "type": "PubMed", "id": "16868246", "url": "https://glygen.org/publication/PubMed/16868246" } ] }, { "title": "Functional analysis of six Kir6.2 (KCNJ11) mutations causing neonatal diabetes.", "journal": "Pflugers Archiv : European journal of physiology", "date": "2006", "authors": "Girard CA, Shimomura K, Proks P, Absalom N, Castano L, Perez de Nanclares G, Ashcroft FM", "evidence": [ { "database": "Reactome", "id": "R-HSA-422356", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-422356" } ], "reference": [ { "type": "PubMed", "id": "17021801", "url": "https://glygen.org/publication/PubMed/17021801" } ] }, { "title": "A systematic review and meta-analysis of hypoglycemia and cardiovascular events: a comparison of glyburide with other secretagogues and with insulin.", "journal": "Diabetes care", "date": "2007", "authors": "Gangji AS, Cukierman T, Gerstein HC, Goldsmith CH, Clase CM", "evidence": [ { "database": "Reactome", "id": "R-HSA-422356", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-422356" } ], "reference": [ { "type": "PubMed", "id": "17259518", "url": "https://glygen.org/publication/PubMed/17259518" } ] }, { "title": "Low levels of glucose transporters and K+ATP channels in human pancreatic beta cells early in development.", "journal": "Diabetologia", "date": "2007", "authors": "Richardson CC, Hussain K, Jones PM, Persaud S, Lobner K, Boehm A, Clark A, Christie MR", "evidence": [ { "database": "Reactome", "id": "R-HSA-422356", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-422356" } ], "reference": [ { "type": "PubMed", "id": "17380317", "url": "https://glygen.org/publication/PubMed/17380317" } ] }, { "title": "The role of distal S6 hydrophobic residues in the voltage-dependent gating of CaV2.3 channels.", "journal": "The Journal of biological chemistry", "date": "2007", "authors": "Raybaud A, Baspinar EE, Dionne F, Dodier Y, Sauve R, Parent L", "evidence": [ { "database": "Reactome", "id": "R-HSA-422356", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-422356" } ], "reference": [ { "type": "PubMed", "id": "17660294", "url": "https://glygen.org/publication/PubMed/17660294" } ] }, { "title": "G-protein-coupled receptors and islet function-implications for treatment of type 2 diabetes.", "journal": "Pharmacology & therapeutics", "date": "2007", "authors": "Winzell MS, Ahren B", "evidence": [ { "database": "Reactome", "id": "R-HSA-422356", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-422356" } ], "reference": [ { "type": "PubMed", "id": "17900700", "url": "https://glygen.org/publication/PubMed/17900700" } ] }, { "title": "Action potentials and insulin secretion: new insights into the role of Kv channels.", "journal": "Diabetes, obesity & metabolism", "date": "2007", "authors": "Jacobson DA, Philipson LH", "evidence": [ { "database": "Reactome", "id": "R-HSA-422356", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-422356" } ], "reference": [ { "type": "PubMed", "id": "17919183", "url": "https://glygen.org/publication/PubMed/17919183" } ] }, { "title": "Both G i and G o heterotrimeric G proteins are required to exert the full effect of norepinephrine on the beta-cell K ATP channel.", "journal": "The Journal of biological chemistry", "date": "2008", "authors": "Zhao Y, Fang Q, Straub SG, Sharp GW", "evidence": [ { "database": "Reactome", "id": "R-HSA-422356", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-422356" } ], "reference": [ { "type": "PubMed", "id": "18162464", "url": "https://glygen.org/publication/PubMed/18162464" } ] }, { "title": "A rare mutation in ABCC8/SUR1 leading to altered ATP-sensitive K+ channel activity and beta-cell glucose sensing is associated with type 2 diabetes in adults.", "journal": "Diabetes", "date": "2008", "authors": "Tarasov AI, Nicolson TJ, Riveline JP, Taneja TK, Baldwin SA, Baldwin JM, Charpentier G, Gautier JF, Froguel P, Vaxillaire M, Rutter GA", "evidence": [ { "database": "Reactome", "id": "R-HSA-422356", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-422356" } ], "reference": [ { "type": "PubMed", "id": "18346985", "url": "https://glygen.org/publication/PubMed/18346985" } ] }, { "title": "Crystal structure of the CaV2 IQ domain in complex with Ca2+/calmodulin: high-resolution mechanistic implications for channel regulation by Ca2+.", "journal": "Structure", "date": "2008", "authors": "Mori Masayuki X, Vander Kooi Craig W, Leahy Daniel J, Yue David T", "evidence": [ { "database": "UniProtKB", "id": "Q15878", "url": "https://www.uniprot.org/uniprotkb/Q15878" } ], "reference": [ { "type": "PubMed", "id": "18400181", "url": "https://glygen.org/publication/PubMed/18400181" } ] }, { "title": "Clinical characteristics and biochemical mechanisms of congenital hyperinsulinism associated with dominant KATP channel mutations.", "journal": "The Journal of clinical investigation", "date": "2008", "authors": "Pinney SE, MacMullen C, Becker S, Lin YW, Hanna C, Thornton P, Ganguly A, Shyng SL, Stanley CA", "evidence": [ { "database": "Reactome", "id": "R-HSA-422356", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-422356" } ], "reference": [ { "type": "PubMed", "id": "18596924", "url": "https://glygen.org/publication/PubMed/18596924" } ] }, { "title": "Coexpression of the type 2 diabetes susceptibility gene variants KCNJ11 E23K and ABCC8 S1369A alter the ATP and sulfonylurea sensitivities of the ATP-sensitive K(+) channel.", "journal": "Diabetes", "date": "2009", "authors": "Hamming KS, Soliman D, Matemisz LC, Niazi O, Lang Y, Gloyn AL, Light PE", "evidence": [ { "database": "Reactome", "id": "R-HSA-422356", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-422356" } ], "reference": [ { "type": "PubMed", "id": "19587354", "url": "https://glygen.org/publication/PubMed/19587354" } ] }, { "title": "Inwardly rectifying potassium channels: their structure, function, and physiological roles.", "journal": "Physiological reviews", "date": "2010", "authors": "Hibino H, Inanobe A, Furutani K, Murakami S, Findlay I, Kurachi Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-422356", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-422356" } ], "reference": [ { "type": "PubMed", "id": "20086079", "url": "https://glygen.org/publication/PubMed/20086079" } ] }, { "title": "The human leukocyte antigen-presented ligandome of B lymphocytes.", "journal": "Molecular & cellular proteomics : MCP", "date": "2013-07", "authors": "Hassan Chopie, Kester Michel G D, de Ru Arnoud H, Hombrink Pleun, Drijfhout Jan Wouter, Nijveen Harm, Leunissen Jack A M, Heemskerk Mirjam H M, Falkenburg J H Frederik, van Veelen Peter A", "evidence": [ { "database": "IEDB", "id": "209367", "url": "https://www.iedb.org/epitope/209367" } ], "reference": [ { "type": "PubMed", "id": "23481700", "url": "https://glygen.org/publication/PubMed/23481700" } ] }, { "title": "Mitiglinide for type 2 diabetes treatment.", "journal": "Expert opinion on pharmacotherapy", "date": "2013", "authors": "Phillippe HM, Wargo KA", "evidence": [ { "database": "Reactome", "id": "R-HSA-422356", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-422356" } ], "reference": [ { "type": "PubMed", "id": "23992284", "url": "https://glygen.org/publication/PubMed/23992284" } ] }, { "title": "Impact of genomic polymorphisms on the repertoire of human MHC class I-associated peptides.", "journal": "Nature communications", "date": "2014-04-09", "authors": "Granados Diana Paola, Sriranganadane Dev, Daouda Tariq, Zieger Antoine, Laumont C\u00e9line M, Caron-Lizotte Olivier, Boucher Genevi\u00e8ve, Hardy Marie-Pierre, Gendron Patrick, C\u00f4t\u00e9 Caroline, Lemieux S\u00e9bastien, Thibault Pierre, Perreault Claude", "evidence": [ { "database": "IEDB", "id": "209367", "url": "https://www.iedb.org/epitope/209367" } ], "reference": [ { "type": "PubMed", "id": "24714562", "url": "https://glygen.org/publication/PubMed/24714562" } ] }, { "title": "Revisiting the arthritogenic peptide theory: quantitative not qualitative changes in the peptide repertoire of HLA-B27 allotypes.", "journal": "Arthritis & rheumatology (Hoboken, N.J.)", "date": "2015-03", "authors": "Schittenhelm Ralf B, Sian Terry C C Lim Kam, Wilmann Pascal G, Dudek Nadine L, Purcell Anthony W", "evidence": [ { "database": "IEDB", "id": "490226", "url": "https://www.iedb.org/epitope/490226" } ], "reference": [ { "type": "PubMed", "id": "25418920", "url": "https://glygen.org/publication/PubMed/25418920" } ] }, { "title": "Naturally processed non-canonical HLA-A*02:01 presented peptides.", "journal": "The Journal of biological chemistry", "date": "2015-01-30", "authors": "Hassan Chopie, Chabrol Eric, Jahn Lorenz, Kester Michel G D, de Ru Arnoud H, Drijfhout Jan W, Rossjohn Jamie, Falkenburg J H Frederik, Heemskerk Mirjam H M, Gras Stephanie, van Veelen Peter A", "evidence": [ { "database": "IEDB", "id": "240290", "url": "https://www.iedb.org/epitope/240290" } ], "reference": [ { "type": "PubMed", "id": "25505266", "url": "https://glygen.org/publication/PubMed/25505266" } ] }, { "title": "Comprehensive Analysis of the Naturally Processed Peptide Repertoire: Differences between HLA-A and B in the Immunopeptidome.", "journal": "PloS one", "date": "2015", "authors": "Schellens Ingrid M M, Hoof Ilka, Meiring Hugo D, Spijkers Sanne N M, Poelen Martien C M, van Gaans-van den Brink Jacqueline A M, van der Poel Kees, Costa Ana I, van Els Cecile A C M, van Baarle Debbie, Kesmir Can", "evidence": [ { "database": "IEDB", "id": "209367", "url": "https://www.iedb.org/epitope/209367" } ], "reference": [ { "type": "PubMed", "id": "26375851", "url": "https://glygen.org/publication/PubMed/26375851" } ] }, { "title": "Molecular action of sulphonylureas on KATP channels: a real partnership between drugs and nucleotides.", "journal": "Biochemical Society transactions", "date": "2015", "authors": "de Wet H, Proks P", "evidence": [ { "database": "Reactome", "id": "R-HSA-422356", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-422356" } ], "reference": [ { "type": "PubMed", "id": "26517901", "url": "https://glygen.org/publication/PubMed/26517901" } ] }, { "title": "Global proteogenomic analysis of human MHC class I-associated peptides derived from non-canonical reading frames.", "journal": "Nature communications", "date": "2016-01-05", "authors": "Laumont C\u00e9line M, Daouda Tariq, Laverdure Jean-Philippe, Bonneil \u00c9ric, Caron-Lizotte Olivier, Hardy Marie-Pierre, Granados Diana P, Durette Chantal, Lemieux S\u00e9bastien, Thibault Pierre, Perreault Claude", "evidence": [ { "database": "IEDB", "id": "209367", "url": "https://www.iedb.org/epitope/209367" } ], "reference": [ { "type": "PubMed", "id": "26728094", "url": "https://glygen.org/publication/PubMed/26728094" } ] }, { "title": "A Molecular Basis for the Presentation of Phosphorylated Peptides by HLA-B Antigens.", "journal": "Molecular & cellular proteomics : MCP", "date": "2017-02", "authors": "Alp\u00edzar Ad\u00e1n, Marino Fabio, Ramos-Fern\u00e1ndez Antonio, Lombard\u00eda Manuel, Jeko Anita, Pazos Florencio, Paradela Alberto, Santiago C\u00e9sar, Heck Albert J R, Marcilla Miguel", "evidence": [ { "database": "IEDB", "id": "490226", "url": "https://www.iedb.org/epitope/490226" } ], "reference": [ { "type": "PubMed", "id": "27920218", "url": "https://glygen.org/publication/PubMed/27920218" } ] }, { "title": "Separate effects of the ankylosing spondylitis associated ERAP1 and ERAP2 aminopeptidases determine the influence of their combined phenotype on the HLA-B*27 peptidome.", "journal": "Journal of autoimmunity", "date": "2017-05", "authors": "Mart\u00edn-Esteban Adrian, Sanz-Bravo Alejandro, Guasp Pablo, Barnea Eilon, Admon Arie, L\u00f3pez de Castro Jos\u00e9 A", "evidence": [ { "database": "IEDB", "id": "490226", "url": "https://www.iedb.org/epitope/490226" } ], "reference": [ { "type": "PubMed", "id": "28063628", "url": "https://glygen.org/publication/PubMed/28063628" } ] }, { "title": "Mass Spectrometry Profiling of HLA-Associated Peptidomes in Mono-allelic Cells Enables More Accurate Epitope Prediction.", "journal": "Immunity", "date": "2017-02-21", "authors": "Abelin Jennifer G, Keskin Derin B, Sarkizova Siranush, Hartigan Christina R, Zhang Wandi, Sidney John, Stevens Jonathan, Lane William, Zhang Guang Lan, Eisenhaure Thomas M, Clauser Karl R, Hacohen Nir, Rooney Michael S, Carr Steven A, Wu Catherine J", "evidence": [ { "database": "IEDB", "id": "634606", "url": "https://www.iedb.org/epitope/634606" }, { "database": "IEDB", "id": "635298", "url": "https://www.iedb.org/epitope/635298" } ], "reference": [ { "type": "PubMed", "id": "28228285", "url": "https://glygen.org/publication/PubMed/28228285" } ] }, { "title": "The Intergenic Recombinant HLA-B *46:01 Has a Distinctive Peptidome that Includes KIR2DL3 Ligands.", "journal": "Cell reports", "date": "2017", "authors": "Hilton HG, McMurtrey CP, Han AS, Djaoud Z, Guethlein LA, Blokhuis JH, Pugh JL, Goyos A, Horowitz A, Buchli R, Jackson KW, Bardet W, Bushnell DA, Robinson PJ, Mendoza JL, Birnbaum ME, Nielsen M, Garcia KC, Hildebrand WH, Parham P", "evidence": [ { "database": "IEDB", "id": "640057", "url": "https://www.iedb.org/epitope/640057" }, { "database": "IEDB", "id": "640290", "url": "https://www.iedb.org/epitope/640290" } ], "reference": [ { "type": "PubMed", "id": "28514659", "url": "https://glygen.org/publication/PubMed/28514659" } ] }, { "title": "Deciphering HLA-I motifs across HLA peptidomes improves neo-antigen predictions and identifies allostery regulating HLA specificity.", "journal": "PLoS computational biology", "date": "2017-08", "authors": "Bassani-Sternberg Michal, Chong Chlo\u00e9, Guillaume Philippe, Solleder Marthe, Pak HuiSong, Gannon Philippe O, Kandalaft Lana E, Coukos George, Gfeller David", "evidence": [ { "database": "IEDB", "id": "209367", "url": "https://www.iedb.org/epitope/209367" }, { "database": "IEDB", "id": "718420", "url": "https://www.iedb.org/epitope/718420" } ], "reference": [ { "type": "PubMed", "id": "28832583", "url": "https://glygen.org/publication/PubMed/28832583" } ] }, { "title": "Comparative risk of serious hypoglycemia with oral antidiabetic monotherapy: A retrospective cohort study.", "journal": "Pharmacoepidemiology and drug safety", "date": "2018", "authors": "Leonard CE, Han X, Brensinger CM, Bilker WB, Cardillo S, Flory JH, Hennessy S", "evidence": [ { "database": "Reactome", "id": "R-HSA-422356", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-422356" } ], "reference": [ { "type": "PubMed", "id": "29108130", "url": "https://glygen.org/publication/PubMed/29108130" } ] }, { "title": "High-throughput and Sensitive Immunopeptidomics Platform Reveals Profound Interferon\u03b3-Mediated Remodeling of the Human Leukocyte Antigen (HLA) Ligandome.", "journal": "Molecular & cellular proteomics : MCP", "date": "2018-03", "authors": "Chong Chloe, Marino Fabio, Pak HuiSong, Racle Julien, Daniel Roy T, M\u00fcller Markus, Gfeller David, Coukos George, Bassani-Sternberg Michal", "evidence": [ { "database": "IEDB", "id": "1889199", "url": "https://www.iedb.org/epitope/1889199" } ], "reference": [ { "type": "PubMed", "id": "29242379", "url": "https://glygen.org/publication/PubMed/29242379" } ] }, { "title": "Comparison of the MHC I Immunopeptidome Repertoire of B-Cell Lymphoblasts Using Two Isolation Methods.", "journal": "Proteomics", "date": "2018-06", "authors": "Lanoix Jo\u00ebl, Durette Chantal, Courcelles Mathieu, Cossette \u00c9milie, Comtois-Marotte Simon, Hardy Marie-Pierre, C\u00f4t\u00e9 Caroline, Perreault Claude, Thibault Pierre", "evidence": [ { "database": "IEDB", "id": "209367", "url": "https://www.iedb.org/epitope/209367" }, { "database": "IEDB", "id": "838382", "url": "https://www.iedb.org/epitope/838382" } ], "reference": [ { "type": "PubMed", "id": "29508533", "url": "https://glygen.org/publication/PubMed/29508533" } ] }, { "title": "The natural HLA ligandome of glioblastoma stem-like cells: antigen discovery for T cell-based immunotherapy.", "journal": "Acta neuropathologica", "date": "2018-06", "authors": "Neidert Marian Christoph, Kowalewski Daniel Johannes, Silginer Manuela, Kapolou Konstantina, Backert Linus, Freudenmann Lena Katharina, Peper Janet Kerstin, Marcu Ana, Wang Sophie Shih-Y\u00fcng, Walz Juliane Sarah, Wolpert Fabian, Rammensee Hans-Georg, Henschler Reinhard, Lamszus Katrin, Westphal Manfred, Roth Patrick, Regli Luca, Stevanovi\u0107 Stefan, Weller Michael, Eisele G\u00fcnter", "evidence": [ { "database": "IEDB", "id": "775262", "url": "https://www.iedb.org/epitope/775262" }, { "database": "IEDB", "id": "1110396", "url": "https://www.iedb.org/epitope/1110396" }, { "database": "IEDB", "id": "1116693", "url": "https://www.iedb.org/epitope/1116693" } ], "reference": [ { "type": "PubMed", "id": "29557506", "url": "https://glygen.org/publication/PubMed/29557506" } ] }, { "title": "Ranking the Contribution of Ankylosing Spondylitis-associated Endoplasmic Reticulum Aminopeptidase 1 (ERAP1) Polymorphisms to Shaping the HLA-B*27 Peptidome.", "journal": "Molecular & cellular proteomics : MCP", "date": "2018-07", "authors": "Sanz-Bravo Alejandro, Alvarez-Navarro Carlos, Mart\u00edn-Esteban Adrian, Barnea Eilon, Admon Arie, L\u00f3pez de Castro Jos\u00e9 A", "evidence": [ { "database": "IEDB", "id": "490226", "url": "https://www.iedb.org/epitope/490226" } ], "reference": [ { "type": "PubMed", "id": "29632046", "url": "https://glygen.org/publication/PubMed/29632046" } ] }, { "title": "Allele-specific Alterations in the Peptidome Underlie the Joint Association of HLA-A*29:02 and Endoplasmic Reticulum Aminopeptidase 2 (ERAP2) with Birdshot Chorioretinopathy.", "journal": "Molecular & cellular proteomics : MCP", "date": "2018", "authors": "Sanz-Bravo A, Martin-Esteban A, Kuiper JJW, Garcia-Peydro M, Barnea E, Admon A, Lopez de Castro JA", "evidence": [ { "database": "IEDB", "id": "428297", "url": "https://www.iedb.org/epitope/428297" } ], "reference": [ { "type": "PubMed", "id": "29769354", "url": "https://glygen.org/publication/PubMed/29769354" } ] }, { "title": "Immunopeptidomic Profiling of HLA-A2-Positive Triple Negative Breast Cancer Identifies Potential Immunotherapy Target Antigens.", "journal": "Proteomics", "date": "2018-06", "authors": "Ternette Nicola, Olde Nordkamp Marloes J M, M\u00fcller Julius, Anderson Amanda P, Nicastri Annalisa, Hill Adrian V S, Kessler Benedikt M, Li Demin", "evidence": [ { "database": "IEDB", "id": "775262", "url": "https://www.iedb.org/epitope/775262" } ], "reference": [ { "type": "PubMed", "id": "29786170", "url": "https://glygen.org/publication/PubMed/29786170" } ] }, { "title": "A subset of HLA-I peptides are not genomically templated: Evidence for cis- and trans-spliced peptide ligands.", "journal": "Science immunology", "date": "2018-10-12", "authors": "Faridi Pouya, Li Chen, Ramarathinam Sri H, Vivian Julian P, Illing Patricia T, Mifsud Nicole A, Ayala Rochelle, Song Jiangning, Gearing Linden J, Hertzog Paul J, Ternette Nicola, Rossjohn Jamie, Croft Nathan P, Purcell Anthony W", "evidence": [ { "database": "IEDB", "id": "634606", "url": "https://www.iedb.org/epitope/634606" } ], "reference": [ { "type": "PubMed", "id": "30315122", "url": "https://glygen.org/publication/PubMed/30315122" } ] }, { "title": "De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.", "journal": "American journal of human genetics", "date": "2018", "authors": "Helbig KL, Lauerer RJ, Bahr JC, Souza IA, Myers CT, Uysal B, Schwarz N, Gandini MA, Huang S, Keren B, Mignot C, Afenjar A, Billette de Villemeur T, Heron D, Nava C, Valence S, Buratti J, Fagerberg CR, Soerensen KP, Kibaek M, Kamsteeg EJ, Koolen DA, Gunning B, Schelhaas HJ, Kruer MC, Fox J, Bakhtiari S, Jarrar R, Padilla-Lopez S, Lindstrom K, Jin SC, Zeng X, Bilguvar K, Papavasileiou A, Xing Q, Zhu C, Boysen K, Vairo F, Lanpher BC, Klee EW, Tillema JM, Payne ET, Cousin MA, Kruisselbrink TM, Wick MJ, Baker J, Haan E, Smith N, Sadeghpour A, Davis EE, Katsanis N, Corbett MA, MacLennan AH, Gecz J, Biskup S, Goldmann E, Rodan LH, Kichula E, Segal E, Jackson KE, Asamoah A, Dimmock D, McCarrier J, Botto LD, Filloux F, Tvrdik T, Cascino GD, Klingerman S, Neumann C, Wang R, Jacobsen JC, Nolan MA, Snell RG, Lehnert K, Sadleir LG, Anderlid BM, Kvarnung M, Guerrini R, Friez MJ, Lyons MJ, Leonhard J, Kringlen G, Casas K, El Achkar CM, Smith LA, Rotenberg A, Poduri A, Sanchis-Juan A, Carss KJ, Rankin J, Zeman A, Raymond FL, Blyth M, Kerr B, Ruiz K, Urquhart J, Hughes I, Banka S, Hedrich UBS, Scheffer IE, Helbig I, Zamponi GW, Lerche H, Mefford HC", "evidence": [ { "database": "UniProtKB", "id": "Q15878", "url": "https://www.uniprot.org/uniprotkb/Q15878" }, { "database": "dbSNP", "id": "rs869312920", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs869312920" } ], "reference": [ { "type": "PubMed", "id": "30343943", "url": "https://glygen.org/publication/PubMed/30343943" } ] }, { "title": "The Structural Basis for the Binding of Repaglinide to the Pancreatic K(ATP) Channel.", "journal": "Cell reports", "date": "2019", "authors": "Ding D, Wang M, Wu JX, Kang Y, Chen L", "evidence": [ { "database": "Reactome", "id": "R-HSA-422356", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-422356" } ], "reference": [ { "type": "PubMed", "id": "31067468", "url": "https://glygen.org/publication/PubMed/31067468" } ] }, { "title": "Identification of Immunodominant HIV-1 Epitopes Presented by HLA-C*12:02, a Protective Allele, Using an Immunopeptidomics Approach.", "journal": "Journal of virology", "date": "2019-09-01", "authors": "Chikata Takayuki, Paes Wayne, Akahoshi Tomohiro, Partridge Thomas, Murakoshi Hayato, Gatanaga Hiroyuki, Ternette Nicola, Oka Shinichi, Borrow Persephone, Takiguchi Masafumi", "evidence": [ { "database": "IEDB", "id": "640057", "url": "https://www.iedb.org/epitope/640057" }, { "database": "IEDB", "id": "929101", "url": "https://www.iedb.org/epitope/929101" } ], "reference": [ { "type": "PubMed", "id": "31217245", "url": "https://glygen.org/publication/PubMed/31217245" } ] }, { "title": "A large peptidome dataset improves HLA class I epitope prediction across most of the human population.", "journal": "Nature biotechnology", "date": "2020-02", "authors": "Sarkizova Siranush, Klaeger Susan, Le Phuong M, Li Letitia W, Oliveira Giacomo, Keshishian Hasmik, Hartigan Christina R, Zhang Wandi, Braun David A, Ligon Keith L, Bachireddy Pavan, Zervantonakis Ioannis K, Rosenbluth Jennifer M, Ouspenskaia Tamara, Law Travis, Justesen Sune, Stevens Jonathan, Lane William J, Eisenhaure Thomas, Lan Zhang Guang, Clauser Karl R, Hacohen Nir, Carr Steven A, Wu Catherine J, Keskin Derin B", "evidence": [ { "database": "IEDB", "id": "490226", "url": "https://www.iedb.org/epitope/490226" }, { "database": "IEDB", "id": "634606", "url": "https://www.iedb.org/epitope/634606" }, { "database": "IEDB", "id": "635298", "url": "https://www.iedb.org/epitope/635298" }, { "database": "IEDB", "id": "640057", "url": "https://www.iedb.org/epitope/640057" }, { "database": "IEDB", "id": "718420", "url": "https://www.iedb.org/epitope/718420" }, { "database": "IEDB", "id": "1006962", "url": "https://www.iedb.org/epitope/1006962" }, { "database": "IEDB", "id": "1009042", "url": "https://www.iedb.org/epitope/1009042" }, { "database": "IEDB", "id": "1020961", "url": "https://www.iedb.org/epitope/1020961" }, { "database": "IEDB", "id": "1027140", "url": "https://www.iedb.org/epitope/1027140" }, { "database": "IEDB", "id": "1037582", "url": "https://www.iedb.org/epitope/1037582" }, { "database": "IEDB", "id": "1038505", "url": "https://www.iedb.org/epitope/1038505" }, { "database": "IEDB", "id": "1045449", "url": "https://www.iedb.org/epitope/1045449" }, { "database": "IEDB", "id": "1045876", "url": "https://www.iedb.org/epitope/1045876" }, { "database": "IEDB", "id": "1046244", "url": "https://www.iedb.org/epitope/1046244" } ], "reference": [ { "type": "PubMed", "id": "31844290", "url": "https://glygen.org/publication/PubMed/31844290" } ] }, { "title": "Immunopeptidome Analysis of HLA-DPB1 Allelic Variants Reveals New Functional Hierarchies.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "2020-06-15", "authors": "van Balen Peter, Kester Michel G D, de Klerk Wendy, Crivello Pietro, Arrieta-Bola\u00f1os Esteban, de Ru Arnoud H, Jedema Inge, Mohammed Yassene, Heemskerk Mirjam H M, Fleischhauer Katharina, van Veelen Peter A, Falkenburg J H Frederik", "evidence": [ { "database": "IEDB", "id": "1170657", "url": "https://www.iedb.org/epitope/1170657" }, { "database": "IEDB", "id": "1170658", "url": "https://www.iedb.org/epitope/1170658" }, { "database": "IEDB", "id": "1170659", "url": "https://www.iedb.org/epitope/1170659" } ], "reference": [ { "type": "PubMed", "id": "32350084", "url": "https://glygen.org/publication/PubMed/32350084" } ] }, { "title": "Immunopeptidomic Analysis Reveals That Deamidated HLA-bound Peptides Arise Predominantly from Deglycosylated Precursors.", "journal": "Molecular & cellular proteomics : MCP", "date": "2020-07", "authors": "Mei Shutao, Ayala Rochelle, Ramarathinam Sri H, Illing Patricia T, Faridi Pouya, Song Jiangning, Purcell Anthony W, Croft Nathan P", "evidence": [ { "database": "IEDB", "id": "1326494", "url": "https://www.iedb.org/epitope/1326494" } ], "reference": [ { "type": "PubMed", "id": "32357974", "url": "https://glygen.org/publication/PubMed/32357974" } ] }, { "title": "In-depth mining of the immunopeptidome of an acute myeloid leukemia cell line using complementary ligand enrichment and data acquisition strategies.", "journal": "Molecular immunology", "date": "2020-07", "authors": "Pandey Kirti, Mifsud Nicole A, Lim Kam Sian Terry C C, Ayala Rochelle, Ternette Nicola, Ramarathinam Sri H, Purcell Anthony W", "evidence": [ { "database": "IEDB", "id": "640290", "url": "https://www.iedb.org/epitope/640290" } ], "reference": [ { "type": "PubMed", "id": "32387766", "url": "https://glygen.org/publication/PubMed/32387766" } ] }, { "title": "Extending the Comprehensiveness of Immunopeptidome Analyses Using Isobaric Peptide Labeling.", "journal": "Analytical chemistry", "date": "2020-07-07", "authors": "Pfammatter Sibylle, Bonneil Eric, Lanoix Joel, Vincent Krystel, Hardy Marie-Pierre, Courcelles Mathieu, Perreault Claude, Thibault Pierre", "evidence": [ { "database": "IEDB", "id": "209367", "url": "https://www.iedb.org/epitope/209367" } ], "reference": [ { "type": "PubMed", "id": "32502341", "url": "https://glygen.org/publication/PubMed/32502341" } ] }, { "title": "ERAP2 Increases the Abundance of a Peptide Submotif Highly Selective for the Birdshot Uveitis-Associated HLA-A29.", "journal": "Frontiers in immunology", "date": "2021", "authors": "Venema Wouter J, Hiddingh Sanne, de Boer Joke H, Claas Frans H J, Mulder Arend, den Hollander Anneke I, Stratikos Efstratios, Sarkizova Siranush, van der Veken Lars T, Janssen George M C, van Veelen Peter A, Kuiper Jonas J W", "evidence": [ { "database": "IEDB", "id": "209367", "url": "https://www.iedb.org/epitope/209367" } ], "reference": [ { "type": "PubMed", "id": "33717175", "url": "https://glygen.org/publication/PubMed/33717175" } ] }, { "title": "Carbamazepine Induces Focused T Cell Responses in Resolved Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis Cases But Does Not Perturb the Immunopeptidome for T Cell Recognition.", "journal": "Frontiers in immunology", "date": "2021", "authors": "Mifsud Nicole A, Illing Patricia T, Lai Jeffrey W, Fettke Heidi, Hensen Luca, Huang Ziyi, Rossjohn Jamie, Vivian Julian P, Kwan Patrick, Purcell Anthony W", "evidence": [ { "database": "IEDB", "id": "1586237", "url": "https://www.iedb.org/epitope/1586237" } ], "reference": [ { "type": "PubMed", "id": "33912179", "url": "https://glygen.org/publication/PubMed/33912179" } ] }, { "title": "Characterization of HLA-A*33:03 epitopes via immunoprecipitation and LC-MS/MS.", "journal": "Proteomics", "date": "2022", "authors": "Khan A, Shin JY, So MK, Na JH, Justesen S, Ansari AA, Ko BJ, Ahn SM", "evidence": [ { "database": "IEDB", "id": "1714063", "url": "https://www.iedb.org/epitope/1714063" } ], "reference": [ { "type": "PubMed", "id": "34561969", "url": "https://glygen.org/publication/PubMed/34561969" } ] }, { "title": "De novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social cognition deficit but no seizures.", "journal": "Molecular autism", "date": "2021", "authors": "Royer-Bertrand B, Jequier Gygax M, Cisarova K, Rosenfeld JA, Bassetti JA, Moldovan O, O'Heir E, Burrage LC, Allen J, Emrick LT, Eastman E, Kumps C, Abbas S, Van Winckel G, Chabane N, Zackai EH, Lebon S, Keena B, Bhoj EJ, Umair M, Li D, Donald KA, Superti-Furga A", "evidence": [ { "database": "RefSeq", "id": "NP_000712", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000712" } ], "reference": [ { "type": "PubMed", "id": "34702355", "url": "https://glygen.org/publication/PubMed/34702355" } ] }, { "title": "Direct inhibition of CaV2.3 by Gem is dynamin dependent and does not require a direct alfa/beta interaction.", "journal": "Biochemical and biophysical research communications", "date": "2022", "authors": "Contreras GF, Saavedra J, Navarro-Quezada N, Mellado G, Gonzalez C, Neely A", "evidence": [ { "database": "RefSeq", "id": "NP_000712", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000712" } ], "reference": [ { "type": "PubMed", "id": "34837834", "url": "https://glygen.org/publication/PubMed/34837834" } ] }, { "title": "HLA Allele-Specific Quantitative Profiling of Type 1 Diabetic B Lymphocyte Immunopeptidome.", "journal": "Journal of proteome research", "date": "2022-01-07", "authors": "Sudhir Putty-Reddy, Lin Tai-Du, Zhang Qibin", "evidence": [ { "database": "IEDB", "id": "1858980", "url": "https://www.iedb.org/epitope/1858980" } ], "reference": [ { "type": "PubMed", "id": "34932366", "url": "https://glygen.org/publication/PubMed/34932366" } ] }, { "title": "Mutations and clinical significance of calcium voltage-gated channel subunit alpha 1E (CACNA1E) in non-small cell lung cancer.", "journal": "Cell calcium", "date": "2022", "authors": "Gao SH, Wang GZ, Wang LP, Feng L, Zhou YC, Yu XJ, Liang F, Yang FY, Wang Z, Sun BB, Wang D, Liang LJ, Xie DW, Zhao S, Feng HP, Li X, Li KK, Tang TS, Huang YC, Wang SQ, Zhou GB", "evidence": [ { "database": "RefSeq", "id": "NP_000712", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000712" } ], "reference": [ { "type": "PubMed", "id": "35026540", "url": "https://glygen.org/publication/PubMed/35026540" } ] }, { "title": "Immunopeptidomic analysis of influenza A virus infected human tissues identifies internal proteins as a rich source of HLA ligands.", "journal": "PLoS pathogens", "date": "2022-01", "authors": "Nicholas Ben, Bailey Alistair, Staples Karl J, Wilkinson Tom, Elliott Tim, Skipp Paul", "evidence": [ { "database": "IEDB", "id": "640290", "url": "https://www.iedb.org/epitope/640290" }, { "database": "IEDB", "id": "775262", "url": "https://www.iedb.org/epitope/775262" }, { "database": "IEDB", "id": "1586237", "url": "https://www.iedb.org/epitope/1586237" }, { "database": "IEDB", "id": "2013729", "url": "https://www.iedb.org/epitope/2013729" }, { "database": "IEDB", "id": "2022363", "url": "https://www.iedb.org/epitope/2022363" }, { "database": "IEDB", "id": "2028790", "url": "https://www.iedb.org/epitope/2028790" }, { "database": "IEDB", "id": "2036076", "url": "https://www.iedb.org/epitope/2036076" }, { "database": "IEDB", "id": "2038613", "url": "https://www.iedb.org/epitope/2038613" }, { "database": "IEDB", "id": "2043401", "url": "https://www.iedb.org/epitope/2043401" }, { "database": "IEDB", "id": "2049168", "url": "https://www.iedb.org/epitope/2049168" }, { "database": "IEDB", "id": "2050060", "url": "https://www.iedb.org/epitope/2050060" }, { "database": "IEDB", "id": "2058900", "url": "https://www.iedb.org/epitope/2058900" } ], "reference": [ { "type": "PubMed", "id": "35051231", "url": "https://glygen.org/publication/PubMed/35051231" } ] }, { "title": "Effects of tolazamide and exogenous insulin on insulin action in patients with non-insulin-dependent diabetes mellitus.", "journal": "The New England journal of medicine", "date": "1986", "authors": "Firth RG, Bell PM, Rizza RA", "evidence": [ { "database": "Reactome", "id": "R-HSA-422356", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-422356" } ], "reference": [ { "type": "PubMed", "id": "3517644", "url": "https://glygen.org/publication/PubMed/3517644" } ] }, { "title": "Soluble HLA peptidome of pleural effusions is a valuable source for tumor antigens.", "journal": "Journal for immunotherapy of cancer", "date": "2022-05", "authors": "Khazan-Kost Sofia, Cafri Gal, Melamed Kadosh Dganit, Mooshayef Navit, Chatterji Sumit, Dominissini Dan, Manor Sigal, Zisser Bracha, Broday Limor, Talalai Efrosiniia, Shemer Anat, Zadok Oranit, Ofek Efrat, Onn Amir, Admon Arie, Peled Michael", "evidence": [ { "database": "IEDB", "id": "2264812", "url": "https://www.iedb.org/epitope/2264812" } ], "reference": [ { "type": "PubMed", "id": "35580925", "url": "https://glygen.org/publication/PubMed/35580925" } ] }, { "title": "Multi-Omic Analysis of Two Common P53 Mutations: Proteins Regulated by Mutated P53 as Potential Targets for Immunotherapy.", "journal": "Cancers", "date": "2022-08-17", "authors": "Vadakekolathu Jayakumar, Boocock David J, Pandey Kirti, Guinn Barbara-Ann, Legrand Antoine, Miles Amanda K, Coveney Clare, Ayala Rochelle, Purcell Anthony W, McArdle Stephanie E", "evidence": [ { "database": "IEDB", "id": "2141425", "url": "https://www.iedb.org/epitope/2141425" } ], "reference": [ { "type": "PubMed", "id": "36010968", "url": "https://glygen.org/publication/PubMed/36010968" } ] }, { "title": "Epilepsy-linked kinase CDKL5 phosphorylates voltage-gated calcium channel Cav2.3, altering inactivation kinetics and neuronal excitability.", "journal": "Nature communications", "date": "2023-12-11", "authors": "Sampedro-Casta\u00f1eda Marisol, Baltussen Lucas L, Lopes Andr\u00e9 T, Qiu Yichen, Sirvio Liina, Mihaylov Simeon R, Claxton Suzanne, Richardson Jill C, Lignani Gabriele, Ultanir Sila K", "evidence": [ { "database": "RefSeq", "id": "NP_000712", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000712" } ], "reference": [ { "type": "PubMed", "id": "38081835", "url": "https://glygen.org/publication/PubMed/38081835" } ] }, { "title": "Studying the O-GlcNAcome of human placentas using banked tissue samples.", "journal": "Glycobiology", "date": "2024-01-22", "authors": "Luna Sarai, Malard Florian, Pereckas Michaela, Aoki Mayumi, Aoki Kazahiro, Olivier-Van Stichelen Stephanie", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q15878", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q15878" } ], "reference": [ { "type": "PubMed", "id": "38253038", "url": "https://glygen.org/publication/PubMed/38253038" } ] }, { "title": "Seizure and movement disorder in CACNA1E developmental and epileptic encephalopathy: Two sides of the same coin or same side of two different coins?", "journal": "Epileptic disorders : international epilepsy journal with videotape", "date": "2024-08", "authors": "Di Micco Valentina, Affronte Leonardo, Khinchi Marianne S\u00f8ndergaard, R\u00f8nde Gitte, Miranda Maria Jose, Hammer Trine Bj\u00f8rg, Specchio Nicola, Beniczky S\u00e1ndor, Olofsson Kern, M\u00f8ller Rikke S, Gardella Elena", "evidence": [ { "database": "RefSeq", "id": "NP_000712", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000712" } ], "reference": [ { "type": "PubMed", "id": "38780451", "url": "https://glygen.org/publication/PubMed/38780451" } ] }, { "title": "Glyburide: a second-generation sulfonylurea hypoglycemic agent. History, chemistry, metabolism, pharmacokinetics, clinical use and adverse effects.", "journal": "Pharmacotherapy", "date": "1985", "authors": "Feldman JM", "evidence": [ { "database": "Reactome", "id": "R-HSA-422356", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-422356" } ], "reference": [ { "type": "PubMed", "id": "3923453", "url": "https://glygen.org/publication/PubMed/3923453" } ] }, { "title": "Clinical experience with the oral antidiabetic compound, tolazamide.", "journal": "Canadian Medical Association journal", "date": "1967", "authors": "McKendry JB, Gfeller KF", "evidence": [ { "database": "Reactome", "id": "R-HSA-422356", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-422356" } ], "reference": [ { "type": "PubMed", "id": "6019353", "url": "https://glygen.org/publication/PubMed/6019353" } ] }, { "title": "Clinical pharmacology of glipizide.", "journal": "The American journal of medicine", "date": "1983", "authors": "Melander A, Wahlin-Boll E", "evidence": [ { "database": "Reactome", "id": "R-HSA-422356", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-422356" } ], "reference": [ { "type": "PubMed", "id": "6424440", "url": "https://glygen.org/publication/PubMed/6424440" } ] }, { "title": "Glyburide and glipizide, second-generation oral sulfonylurea hypoglycemic agents.", "journal": "Clinical pharmacy", "date": "1984", "authors": "Prendergast BD", "evidence": [ { "database": "Reactome", "id": "R-HSA-422356", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-422356" } ], "reference": [ { "type": "PubMed", "id": "6435940", "url": "https://glygen.org/publication/PubMed/6435940" } ] }, { "title": "Molecular analysis and functional expression of the human type E neuronal Ca2+ channel alpha 1 subunit.", "journal": "Receptors & channels", "date": "1994", "authors": "Schneider T, Wei X, Olcese R, Costantin JL, Neely A, Palade P, Perez-Reyes E, Qin N, Zhou J, Crawford GD, et al.", "evidence": [ { "database": "UniProtKB", "id": "Q15878", "url": "https://www.uniprot.org/uniprotkb/Q15878" } ], "reference": [ { "type": "PubMed", "id": "7536609", "url": "https://glygen.org/publication/PubMed/7536609" } ] }, { "title": "Pancreatic islet GLUT2 glucose transporter mRNA and protein expression in humans with and without NIDDM.", "journal": "Diabetes", "date": "1995", "authors": "Ferrer J, Benito C, Gomis R", "evidence": [ { "database": "Reactome", "id": "R-HSA-422356", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-422356" } ], "reference": [ { "type": "PubMed", "id": "7589840", "url": "https://glygen.org/publication/PubMed/7589840" } ] }, { "title": "Human and rat beta cells differ in glucose transporter but not in glucokinase gene expression.", "journal": "The Journal of clinical investigation", "date": "1995", "authors": "De Vos A, Heimberg H, Quartier E, Huypens P, Bouwens L, Pipeleers D, Schuit F", "evidence": [ { "database": "Reactome", "id": "R-HSA-422356", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-422356" } ], "reference": [ { "type": "PubMed", "id": "7593639", "url": "https://glygen.org/publication/PubMed/7593639" } ] }, { "title": "Direct control of exocytosis by receptor-mediated activation of the heterotrimeric GTPases Gi and G(o) or by the expression of their active G alpha subunits.", "journal": "The EMBO journal", "date": "1995", "authors": "Lang J, Nishimoto I, Okamoto T, Regazzi R, Kiraly C, Weller U, Wollheim CB", "evidence": [ { "database": "Reactome", "id": "R-HSA-422356", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-422356" } ], "reference": [ { "type": "PubMed", "id": "7641683", "url": "https://glygen.org/publication/PubMed/7641683" } ] }, { "title": "Coexpression of glucose transporters and glucokinase in Xenopus oocytes indicates that both glucose transport and phosphorylation determine glucose utilization.", "journal": "The Journal of clinical investigation", "date": "1994", "authors": "Morita H, Yano Y, Niswender KD, May JM, Whitesell RR, Wu L, Printz RL, Granner DK, Magnuson MA, Powers AC", "evidence": [ { "database": "Reactome", "id": "R-HSA-422356", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-422356" } ], "reference": [ { "type": "PubMed", "id": "7929812", "url": "https://glygen.org/publication/PubMed/7929812" } ] }, { "title": "A mutation in the Glut2 glucose transporter gene of a diabetic patient abolishes transport activity.", "journal": "The Journal of biological chemistry", "date": "1994", "authors": "Mueckler M, Kruse M, Strube M, Riggs AC, Chiu KC, Permutt MA", "evidence": [ { "database": "Reactome", "id": "R-HSA-422356", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-422356" } ], "reference": [ { "type": "PubMed", "id": "8027028", "url": "https://glygen.org/publication/PubMed/8027028" } ] }, { "title": "Structure and functional characterization of neuronal alpha 1E calcium channel subtypes.", "journal": "The Journal of biological chemistry", "date": "1994", "authors": "Williams ME, Marubio LM, Deal CR, Hans M, Brust PF, Philipson LH, Miller RJ, Johnson EC, Harpold MM, Ellis SB", "evidence": [ { "database": "UniProtKB", "id": "Q15878", "url": "https://www.uniprot.org/uniprotkb/Q15878" } ], "reference": [ { "type": "PubMed", "id": "8071363", "url": "https://glygen.org/publication/PubMed/8071363" } ] }, { "title": "Kinetic analysis of the liver-type (GLUT2) and brain-type (GLUT3) glucose transporters in Xenopus oocytes: substrate specificities and effects of transport inhibitors.", "journal": "The Biochemical journal", "date": "1993", "authors": "Colville CA, Seatter MJ, Jess TJ, Gould GW, Thomas HM", "evidence": [ { "database": "Reactome", "id": "R-HSA-422356", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-422356" } ], "reference": [ { "type": "PubMed", "id": "8457197", "url": "https://glygen.org/publication/PubMed/8457197" } ] }, { "title": "Individual sulfonylureas and serious hypoglycemia in older people.", "journal": "Journal of the American Geriatrics Society", "date": "1996", "authors": "Shorr RI, Ray WA, Daugherty JR, Griffin MR", "evidence": [ { "database": "Reactome", "id": "R-HSA-422356", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-422356" } ], "reference": [ { "type": "PubMed", "id": "8675920", "url": "https://glygen.org/publication/PubMed/8675920" } ] }, { "title": "Chromosomal localization of the human genes for alpha 1A, alpha 1B, and alpha 1E voltage-dependent Ca2+ channel subunits.", "journal": "Genomics", "date": "1995", "authors": "Diriong S, Lory P, Williams ME, Ellis SB, Harpold MM, Taviaux S", "evidence": [ { "database": "Reactome", "id": "R-HSA-112308", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-112308" } ], "reference": [ { "type": "PubMed", "id": "8825650", "url": "https://glygen.org/publication/PubMed/8825650" } ] }, { "title": "Structure-function analysis of liver-type (GLUT2) and brain-type (GLUT3) glucose transporters: expression of chimeric transporters in Xenopus oocytes suggests an important role for putative transmembrane helix 7 in determining substrate selectivity.", "journal": "Biochemistry", "date": "1996", "authors": "Arbuckle MI, Kane S, Porter LM, Seatter MJ, Gould GW", "evidence": [ { "database": "Reactome", "id": "R-HSA-422356", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-422356" } ], "reference": [ { "type": "PubMed", "id": "8987985", "url": "https://glygen.org/publication/PubMed/8987985" } ] }, { "title": "Mechanisms of inhibition of insulin release.", "journal": "The American journal of physiology", "date": "1996", "authors": "Sharp GW", "evidence": [ { "database": "Reactome", "id": "R-HSA-422356", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-422356" } ], "reference": [ { "type": "PubMed", "id": "8997178", "url": "https://glygen.org/publication/PubMed/8997178" } ] }, { "title": "The interaction of nucleotides with the tolbutamide block of cloned ATP-sensitive K+ channel currents expressed in Xenopus oocytes: a reinterpretation.", "journal": "The Journal of physiology", "date": "1997", "authors": "Gribble FM, Tucker SJ, Ashcroft FM", "evidence": [ { "database": "Reactome", "id": "R-HSA-422356", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-422356" } ], "reference": [ { "type": "PubMed", "id": "9350615", "url": "https://glygen.org/publication/PubMed/9350615" } ] }, { "title": "Tissue specificity of sulfonylureas: studies on cloned cardiac and beta-cell K(ATP) channels.", "journal": "Diabetes", "date": "1998", "authors": "Gribble FM, Tucker SJ, Seino S, Ashcroft FM", "evidence": [ { "database": "Reactome", "id": "R-HSA-422356", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-422356" } ], "reference": [ { "type": "PubMed", "id": "9726229", "url": "https://glygen.org/publication/PubMed/9726229" } ] }, { "title": "Repaglinide.", "journal": "Drugs & aging", "date": "1998", "authors": "Balfour JA, Faulds D", "evidence": [ { "database": "Reactome", "id": "R-HSA-422356", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-422356" } ], "reference": [ { "type": "PubMed", "id": "9739505", "url": "https://glygen.org/publication/PubMed/9739505" } ] }, { "title": "Different functional domains of GLUT2 glucose transporter are required for glucose affinity and substrate specificity.", "journal": "Endocrinology", "date": "1998", "authors": "Wu L, Fritz JD, Powers AC", "evidence": [ { "database": "Reactome", "id": "R-HSA-422356", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-422356" } ], "reference": [ { "type": "PubMed", "id": "9751501", "url": "https://glygen.org/publication/PubMed/9751501" } ] }, { "title": "Molecular mechanisms and regulation of insulin exocytosis as a paradigm of endocrine secretion.", "journal": "European journal of biochemistry", "date": "1999", "authors": "Lang J", "evidence": [ { "database": "Reactome", "id": "R-HSA-422356", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-422356" } ], "reference": [ { "type": "PubMed", "id": "9914469", "url": "https://glygen.org/publication/PubMed/9914469" } ] } ], "pathway": [ { "id": "hsa:777", "name": "", "url": "https://www.genome.jp/dbget-bin/www_bget?hsa:777", "resource": "KEGG Pathway" }, { "id": "R-HSA-112308", "name": "", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-112308", "resource": "Reactome", "description": "Presynaptic depolarization and calcium channel opening" }, { "id": "R-HSA-422356", "name": "", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-422356", "resource": "Reactome", "description": "Regulation of insulin secretion" } ], "orthologs": [ { "uniprot_canonical_ac": "A0A8M6Z381-1", "protein_name": "Voltage-dependent N-type calcium channel subunit alpha", "gene_name": "cacna1bb", "tax_id": 7955, "organism": "Danio rerio", "sequence": { "sequence": "MKRSKRRDSDWKERKSTVIYAARLATLGTWRMLTLGAEFSSWAQASEPADNQKDRRAAFPELSSEHCLYEERQMTRDDQTQRAGECKYHSVVELERRSDLKNTDFISAHEMCDEQERMARFGDDLPTRYGGPAGAGRGGARAGGPSGGQRMYKQSMAQRARTMALYNPKQTKQNCFTVNRSLFIFSEDNVIRKYAKRITEWPPFEYLILTTIIANCIVLALEQHLPALDKTPMSERLDDTEPYFIGIFCFEAGIKIIALGFVFHKDSYLRNGWNIMDFVVVVTGILTTVGSQFDLRTLRAVRVLRPLKLVSGIPSLQVVLKSIMKAMVPLLQIGLLLFFAIVMFAIIGVEFYMGKFHFTCFKVDTGEKAVDYPCGAEPPSRSCPVGTNCTEYWKGPNFGITNFDNILFAILTVFQCITMEGWTDVLYHTNDAAGNTWNWLYFIPLIIIGSFFMLNLVLGVLSGEFAKERERVEKRQEFLKLRRQQQIERELTGYLEWICKAEEVLLAEEDQNAEEKSPLDGAWYRRKQNNPVLKRTKSRKGRNDLISAEEGDEHFTDISSVAPPGSPFARASLKSSKNDSSSYFRRKEKRIRFFIRRMVKAQSFYWIVLCLVGLNTMCVAIVHYDQPEWLTKALYLAEFVFLGLFLTEMTLKMYGLGPRNYFHSSFNCFDFGVIVGSIFEVIWAAIQPGASFGISVLRALRLLRIFKVTKYWNSLRNLVVSLLNSMKSIISLLFLLFLFIVVFALLGMQLFGGQFNFEDETPTTNFDSFPAAIMTVFQILTGEDWNAVMYHGIESQGGVRGGMFSSVYFIVLTLFGNYTLLNVFLAIAVDNLANAQELTKDEEQQEEAAKKSLALQKAMEVKEVSPMSAANISIAAFVKQNRDAISRRSSVCSVHSPKEQQRSLQKLSIWEQRTNQLRRHNLRSSSEALYNELEPEERLRVSSALHLRPDMKTHHDRPLVVEHRDSVDNLRSDKDGDTSEGQPASNHQRKYHKCRGENGDTGEGRLHRHHSQNRENQGGLERSNSQDGGQRNHHRSSGSPEEGIGIEEREHRHHHSRRPREVNGNGNGVIGNGGRGERIRGHREGEGGNGERRRHRPRVKAQSTLDGDECRENGGKRRSRPTETDSLTTSPLQSPSEEKPEDKDNLKNSTRVGPSGVNIPVTITAPPGETTVIPMNNIDGDSLLLNEEKKDLDELNQNAPKHILPYSSMFVFGPTNPVRRLCHYVVNLRYFEMCILTVITMSSIALAAEDPVQAHAPRNDVLKYLDYVFTGVFTFEMVIKMIDLGLLLHPGSYFRDLWNILDFIVVSGALVAFACSGTKGKDINTIKSLRVLRVLRPLKTIKRLPKLKAVFDCVVNSLKNVLNILIVYILFMFIFAVIAVQLFKGKFFHCTDESKALEKDCRGQFLEYGSDGVAMTQPREWKKYDFHYDNVLWAFLTLFTVSTGEGWPLVLKHSVDATYEDQGPSPGYRMETSIFYVVYFIVFPFFFVNIFVALIIITFQEQGDKAMSECSLEKNERACIDFAINAKPLTRYMPQDKNSYQYKMWKFVVSTPFEYSILTMIAINTVVLMMKFHGAPKPYEDMLKWLNIIFTALFTLECVLKVIAFGPLNYLKEAWNIFDFVTVLGSITDILVTEIKDKRINLSFLRLFRAARLIKLLRQGYTIRILLWTFVQSFKALPYVCLLIAMLFFIYAIIGMQVFGNIALNNEDSAINIHNNFRTFFQALMLLFRSATGEAWHEIMLACLSERYCDIESGYSGKECGSDFAYFYFVSFIFLCSFLMLNLFVAVIMDNFEYLTRDASILGPHHLDEFIRVWAEYDPAACGRMSYLDMYEMLRHMSPPLGLGKKCPPRIAYKRLVRMNMPIAEDNTVHFTSTLMALIRTALEIKLASGVLAQRICDAELRKEINKIWPSLSSKTVDLLVTPHKHNELTVGKVYAALMIFDYYKQNRAKRLQQQQAAPGTQSKVGVLFRPMLPLTHLHDQEPLVPKGPPPSHLDITPQSDATPTSFHLTNGDAVQSQSSAMKKSPSGGPSQEVTQETNRRPIQRGQSEDVPNTYRSQELVEMTDMENDSDVGGYHVLEGHGRAASMPRLNAGFQRSHLRHTAGAYLAPIADVSPMRRSTSSLTPQRGAREVNLSEYDLERPRMSPSQTFAQDRERERVHHHHHHHHHRCQRRRDKKHKSLDRAISEEQPPPAADPNTESTPRERARERDRGRSHERKHHSSSAAERKQRYYSCDRYGSHEHGHSLSAGPSRSTSPGEPHDRLKQGINAAKGSSVGHTSGTSTPCRGRRQLPQTPLTPRPAVAYKTANSSPVQLNTAQSTGPCPARLSRGLSEHDTLLSGSIHRQSPVPVTRIGSDPSLGPLQQDSHLSEAEDFHDALSTYGTGRSPRTTAIIAHTSSGATATSTLLSRSQSGVPNGYHYSLGVNAAPGLSGRASGSYQETERDDWC", "length": 2447 }, "evidence": [ { "id": "FB:FBgn0263111", "url": "https://alliancegenome.org/gene/FB:FBgn0263111#orthology", "database": "AGR" } ], "glygen_name": "Zebrafish", "common_name": "Zebrafish" }, { "uniprot_canonical_ac": "A0A8M9PXN1-1", "protein_name": "Voltage-dependent N-type calcium channel subunit alpha", "gene_name": "cacna1ba", "tax_id": 7955, "organism": "Danio rerio", "sequence": { "sequence": "MARFEDDLPTRYGGGGGGSPAGPGRGATRQPGPPGGPRVYKQTMAQRARTMAIYNPIPVKQNCLTVNRSLFIFSEDNIIRKYAKKITEWPPFEYMILATIIANCIVLGLEQHLPALDKTPMSKRLDDTEPYFIGIFCFEAGIKIIALGFAFHKGSYLRNGWNVMDFVVVLTGILTIVGPDFDLRTLRAVRVLRPLKLVSGIPSLQVVLKSIMKAMVPLLQIGLLLFFAILMFAIIGLDFYMGKFHRTCFRTDTGEQVDEFPCGLESPAWTCENGTECREYWIGPNFGITNFDNILFAVLTVFQCITMEGWVDILYNANDASGNTWNWLYFIPLIIIGSFFMLNLVLGVLSGEFAKERERVEKRQEFLKLRRQQQIERELTGYLEWICKAEEVMLAEEDKNAEDKDDVAWYKRKCNNPGGFTRSLGADFGLPVLKRAKKSKNDLINAEEGEDHFTDISSVAPQGSPFTRTSVKSSKIESLSYFRRKEKRFRFFIRRMVKAQSFYWTVLCIVGLNTLCVAIVHYDQPEWLTYALYLAEFVFLGLFLIEMSLKMYGLGPRTYFHSSFNCFDFGVIVGSIFEVIWAAVKPGASFGISVLRALRLLRIFKVTKYWNSLRNLVVSLLNSMKSIISLLFLLFLFIVVFALLGMQLFGGQFNFEDETPTTNFDTFPAAILTVFQILTGEDWNAVMYHGIESQGGVHRGMFCSVYFIVLTLFGNYTLLNVFLAIAVDNLANAQELTKDEEEQEEAISKKLALQKAKEVKEVSPMSAANISITAFIRPNPGALSCSSSNSSSHSPKEQQRSLKMMSVWEQRTTQIRKHMLASSEALYQEELNPRLTSNLPLRTDIKTHLDRPLVVEPRCDGPISPNSGWDKPQDLQGEGSTPEERVPPVFEPPQSHPPRKHHRHRERLSNETNENGDTGHAKEGRHHIHHSRSKEHDGTRCKEGKGDRSRSREGGRRHHHQSSVDEGVGGGEREHRHHHSHRHNREGNGVVSAGGKSERRSRQKEGSRSGTREGERCSRGENGGNGGRRRHRPRTSKAQSTLEGEEQHVNGEEEGKSQSHRHMDMGGDSMAVNPHQPSVGSRWCLEKPEDSDNKRNIGQTGGMSTHIPVTVTSPPGETTLIPMNSIDSETVPMTEKNLEDLNQSSIRPILPFSSMFIFNPTNPVRRLCHYIVSLRYFEMCILVVIAMSSIALAAEDPVQANAPRNNVLKYLDYVFTGVFTFEMVIKMVDLGLILHPGSYFRDLWNILDFIVVSGALVAFAFSGTKGKDISTIKSLRVLRVLRPLKTIKRLPKLKAVFDCVVNSLKNVLNILIVYILFMFIFAVIAVQLFKGKFFYCTDESKGLEKDCRGLFLDYDKDDVTAQPREWKKYEFHYDNVLWAFLTLFTVSTGEGWPTVLKHSVDATFEDQGPSPGYRIEMSIFYVVYFVVFPFFFVNIFVALIIITFQEQGDKVLSECSLEKNERACIDFAINAKPLTRYMPQNQQSFQYRLWKFVVSPPFEYSIMIMIALNTVVLMMKFHGAPDFYEAMLKYLNIVFTVLFSLECILKIIAFGPLNYLKDAWNVFDFVTVLGSITDILVTEINERQLNFSFLRLFRAARLIKLLRQGYTIRILLWTFVQSFKALPYVCLLIAMLFFIYAIIGMQVFGNIDLNDDTAINRHNNFRTFLQALMLLFRSATGEAWHDIMLSCLSERTCDPSSGTLGKECGSDFAYFYFVSFIFLCSFLMLNLFVAVIMDNFEYLTRDSSILGPHHLDEFIRVWAEYDPAACGRIKYLDMYEMLLHMSPPLGLGKKCPPRIAYKRLVKMNMPIADDNSVHFTSTLMALIRTALEIKLASGMVAQRLSDAELKKELSTVWPNLSQKTMDLLVTPHKPNELTVGKVYAALMIFDYYKQNRAKRLQMQQQQLKEQAGPGSQNKVSALLEPILPLTHMQDQPVNGVDSASECQAQTRPSSTTLNNGRTTLDNTIKGSSSWASEKSKEVQKSKRRPMSRGQSEDASNANTAQESVEMRKMENSANTVTSGGLEGQGRAASMPKLNAEMQRSHSRQSPGTLLEPIPDSPMRRSASTFAPQRPHEVNLNDYILEKPVQERHHHHHHHHRCHHRRDRDKKQRSLDRSPTGHHKTTGTATDSVEERAHDRGRSHERKHHSSSGEKQRYYSCDRYASREHCSSKSAVASCATSPSETQEANLNKQGSGWAKGSPVLLTSGASTPSRGRRQLPQTPLTPRPSVAYRTANSSPVQLLATTTSLLPPSPGRLSRGLSEHNALLLSGSISSSPAPVSRINSEPFLGPPDHPAGLQPEAFAVFQEDPSPQMGRSPQTVGMPFVAIPPPPPQQFRRVPNGYHFSTGPSASRGRAQQYYPEAEVEDWC", "length": 2365 }, "evidence": [ { "id": "FB:FBgn0263111", "url": "https://alliancegenome.org/gene/FB:FBgn0263111#orthology", "database": "AGR" } ], "glygen_name": "Zebrafish", "common_name": "Zebrafish" }, { "uniprot_canonical_ac": "A0A9J7H258-1", "protein_name": "Voltage-dependent R-type calcium channel subunit alpha", "gene_name": "Cacna1e", "tax_id": 10029, "organism": "Cricetulus griseus", "sequence": { "sequence": "MARFGEAVVVGRPGSGDGDSDQSRNRQGTPVPASGPAAAYKQSKAQRARTMALYNPIPVRQNCFTVNRSLFIFGEDNIVRKYAKKLIDWPPFEYMILATIIANCIVLALEQHLPEDDKTPMSRRLEKTEPYFIGIFCFEAGIKIVALGFIFHKGSYLRNGWNVMDFIVVLSGILATAGTHFNTHVDLRTLRAVRVLRPLKLVSGIPSLQIVLKSIMKAMVPLLQIGLLLFFAILMFAIIGLEFYSGKLHRACFMNNSGILEGFDPPHPCGVQGCPAGYECKDWIGPNDGITQFDNILFAVLTVFQCITMEGWTTVLYNTNDALGATWNWLYFIPLIIIGSFFVLNLVLGVLSGEFAKERERVENRRAFMKLRRQQQIERELNGYRAWIDKAEEVMLAEENKNAGTSALEVLRRATIKRSRTEAMTRDSSDEHCVDISSVGTPLARASIKSTKVDGASYFRHKERLLRISIRHMVKSQVFYWIVLSVVALNTACVAIVHHNQPQWLTHLLYYAEFLFLGLFLLEMSLKMYGMGPRLYFHSSFNCFDFGVTVGSIFEVVWAIFRPGTSFGISVLRALRLLRIFKITKYWASLRNLVVSLMSSMKSIISLLFLLFLFIVVFALLGMQLFGGRFNFNDGTPSANFDTFPAAIMTVFQILTGEDWNEVMYNGIRSQGGVSSGMWSAIYFIVLTLFGNYTLLNVFLAIAVDNLANAQELTKDEQEEEEAFNQKHALQKAKEVSPMSAPNMPSIERDRRRRHHMSMWEPRSSHLRERRRRHHMSVWEQRTSQLRRHMQMSSQEALNKEEAPPMNPLNPLNPLSPLNPLNAHPSLYRRPRPIEGLALGLGLEKCEEERISRGGSLKGDIGGLTSALDNQRSPLSLGKREPPWLPRSCHGNCDPTQQEAGGGETVVTFEDRARHRQSQRRSRHRRVRTEGKESASVSRSRSASQERSLDEGVSIEGEKEHEPQGSHRSKEPTIHEEERTQDLRRTNSLMVPRGSGLVGVLDEAETPLVQAQPELEVGKDAALTEQEAEGSSEQALLGDVQLDVGRGISQSEPDLSCMTANMDKGTTESTSVTVAIPDVDPLVDSTVVHISNKTDGEASPLKEAETKEEEEEVEKKKQKKEKRETGKAMVPHSSMFIFSTTNPIRRACHYIVNLRYFEMCILLVIAASSIALAAEDPVLTNSERNKVLRYFDYVFTGVFTFEMVIKMIDQGLILQDGSYFRDLWNILDFVVVVGALVAFALANALGTNKGRDIKTIKSLRVLRVLRPLKTIKRLPKLKAVFDCVVTSLKNVFNILIVYKLFMFIFAVIAVQLFKGKFFYCTDSSKDTEKECIGNYVDHEKNKMEVKGREWKRHEFHYDNIIWALLTLFTVSTGEGWPQVLQHSVDVTEEDRGPSRSNRMEMSIFYVVYFVVFPFFFVNIFVALIIITFQEQGDKMMEECSLEKNERACIDFAISAKPLTRYMPQNRHTFQYRVWHFVVSPSFEYTIMAMIALNTVVLMMKYYSAPCTYELALKYLNIAFTMVFSLECVLKVIAFGFLNYFRDTWNIFDFITVIGSITEIILTDSKLVNTSGFNMSFLKLFRAARLIKLLRQGYTIRILLWTFVQSFKALPYVCLLIAMLFFIYAIIGMQVFGNIKLDEESHINRHNNFRSFFGSLMLLFRSATGEAWQEIMLSCLGEKGCEPDTTAPSGQNESERCGTDLAYVYFVSFIFFCSFLMLNLFVAVIMDNFEYLTRDSSILGPHHLDEFVRVWAEYDRAACGRIHYTEMYEMLTLMSPPLGLGKRCPSKVAYKRLVLMNMPVAEDMTVHFTSTLMALIRTALDIKIAKGGADRQQLDSELQKETLAIWPHLSQKTLDLLVPMPKASDLTVGKIYAAMMIMDYYKQSKVKKQRQQLEEQKNAPMFQRMEPSSLPQEIIANAKALPYLQQDPVSGLSGRSGYPSMSPLSPQEIFQLACMDPADDGQFQEQQSLEPEVSELKSVQSSSHGIYLPPDTQKHAGSGRASSMPRLTMDPQVVTDPSSMRRSFSTIRDKRSNSSWLEEFSMERSSENTYKSRRRSYHSSLRLSAHRLNSDSGHKSDTHRSGGRERGRSKERKHLLSPDVSRCNSEERGTQADWESPERQQSRSPSEGRSQTPNRQGTGSLSESSIPSVSDTSTPRRSRRQLPPVPPKPRPLLSYSSLMRHTGGISPPPDGSEGGSPLASQALESNSACLTESSNSLHPQQGQHSSPQHYISEPYLALHEDSHASDCGEEETLTFEAAVATSLGRSNTIGSAPPLRHSWQMPNGHYRRRRRGGPGPGMMCGAVSDLLSDTEEDDKC", "length": 2315 }, "evidence": [ { "id": "Q15878", "url": "https://omabrowser.org/oma/group/Q15878/", "database": "OMA" } ], "glygen_name": "Hamster", "common_name": "Chinese hamster" }, { "uniprot_canonical_ac": "A0AB40E8N7-1", "protein_name": "Voltage-dependent R-type calcium channel subunit alpha-1E", "gene_name": "cacna1eb", "tax_id": 7955, "organism": "Danio rerio", "sequence": { "sequence": "MAQPEDAPKEMLSAEGKAESESAGEIKRARTMALYNPIPAKHNCLTVNRSLFIFAENNMIRKYAKRIIEWPPFEYMILATIIANCIVLSLEQHLPGEDKTPMSKRLEKTEPYFIGIFCFEAGIKLVALGFVFHKGSYLRNGWNVMDFIVVLSGILATAGSHMNIPVDLRTLRAVRVLRPLKLVSGIPSLQIVLKSIIKAMVPLLQIGLLLFFAILMFAIIGLEFYSGKLHHTCLADLDILDNETVDSSEVDFACGVRKCPDKYTCSGSWIGPNDGITQFDNILFAVLTVFQCITMEGWTAVLYNTNDALGPTWNWIYFIPLIIIGSFFVLNLVLGVLSGEFAKERERVENRRAFMKLRRQQQVERELNGYRAWIDRAEEVMLQEENKNSGRSALDVLKRATSKKNARRRGPGEEKYSEISTVAGGSRPRVGMRTPRRGPAAYLRRKERMLRFSIRRMVKTDSFYWIVLSLVALNTISVSIVHHNQPEWLTVIQYYTEFVFLGLFLAEMFLKMYGLGFRLYFHSSFNCFDCGVIVGSIFEVVWGFFRPGVSFGISVLRALRLLRIFKITKYWSSLRNLVVSLMSSMKSIISLLFLLFLFIVVFALLGMQLFGGRFIFEDYTPTNFDTFPASIMTVFQILTGEDWNEVMYNGIRSQGGVHYGMWSSIYFIVLTLFGNYTLLNVFLAIAVDNLANAQELTKEEEEEEEEFFNQRYKSREFGLSERRRRPYLYRKRAIHRGRPSPAEAEEEAAGKQAAEEQPVNAFAGRRERRKKINMSVWEQRANQLRKRRQMASREVLFGGPTEDQDTPGSDHHQQHSLSTETSPLHLPESPMSVGMPLPEPPMSITIPLPEPPESEPLSGSGLEERPSANNHHANTERRHRVARKFRAAAAAGVAEGGRHKRHRHRESRTEARNAENHQQFERQAEDGEGKTEEAQSKHMMNMCDPERQIENQEECQREFVCDLTGLSQASGHQEEDQAESQEAQLLRHKEDFSTESKYMTEVSDIENNGSYLNQDECMTETSLKRESSSQPLLEMAPMTVSFKDVEASLSDKADDDDDDDMDDDDDYEDDENGGEKSTASKPERPDSMFIFKSKNPIRRICHYVVTLRYFEMTILLVIVASSIALAAEDPVCTSSERNKVLRYFDYVFTGVFTFEMIIKMIDQGLILHDGSYFRDMWNILDFIVVVGALIAFALTNNKGRDIKTIKSLRVLRVLRPLKTIKRLPKLKAVFDCVVTSLKNVFNILIVYKLFMFIFAVIAVQLFKGKFFYCTDGSMGTQKECQGYYIDYGRDRKEVKKREWRRHEFHYDNVLWALLTLFTVSTGEGWPQVLQHSVDVTEEDHGPSRGNRMEMSIFYVIYFVVFPFFFVNIFVALIIITFQEQGDKMMEECNLEKNERACIDFAISAKPLTRYMPQNRQTLQYRLWHFVVSPSFEYTVLVMIALNTVVLMMKYYSAPTAYDIVLKHLNTAFTVLFSLECILKIMAFGFMNYFRDTWNIFDFITVLGSITEIVVDLQSVNTINMSFLKLFRAARLIKLLRQGYTIRILLWTFVQSFKALPYVCLLIAMLFFIYAIIGMQVFGNIKLNDESHINQHNNFKTFFGALMLLFRSATGESWQEIMLSCLEGKECEPDPSITPPFTSPDHEGGCGTDFAYFYFVSFIFFSSFLMLNLFVAVIMDNFEYLTRDSSILGPHHLDEFVRIWGEYDRAACGRIHYNAMYEMLTHMSPPLGLGKKCPAKIAYKRLVLMNMPVDEDMTVHFTSTLMSLIRTALEIKIARGGEDRLQLDMELQKEISFIWPHLSQKTLDLLVPINKDTDMTVGKIYASRMIMDFFKQSKAKKLRLQVEAQRAAALPLISHSAGSALTSGGFVALSPISPQELLLQPITQRTDSSEDYDASQVDESGLNGVWGEDRPPEHAFRARHKSYKAAVSHSEQTQYMEKVRGRPKEQRLLLSPKNSNSKSRSRSPSEERVHGVTRQGNSSESPVPSTSESSTPSGKRRLSQTSTCSRPHISYSPLVSHTQSSSQPTNNNEEDEEDDPAVQQMLGCCSTALWDDSAEDQDARARQQEKSHFEVDEFLGSSVRRYPSESFLALQEEEHSPDSATAMETLTFEAAVATSLGRANTVSASMRTRSRIGWQVPNGHFRKRLAQSVSLAGGETLSDVEDDKY", "length": 2164 }, "evidence": [ { "id": "ZFIN:ZDB-GENE-070705-133", "url": "https://alliancegenome.org/gene/ZFIN:ZDB-GENE-070705-133#orthology", "database": "AGR" }, { "id": "FB:FBgn0263111", "url": "https://alliancegenome.org/gene/FB:FBgn0263111#orthology", "database": "AGR" }, { "id": "RGD:2246", "url": "https://alliancegenome.org/gene/RGD:2246#orthology", "database": "AGR" }, { "id": "HGNC:1392", "url": "https://alliancegenome.org/gene/HGNC:1392#orthology", "database": "AGR" }, { "id": "MGI:106217", "url": "https://alliancegenome.org/gene/MGI:106217#orthology", "database": "AGR" } ], "glygen_name": "Zebrafish", "common_name": "Zebrafish" }, { "uniprot_canonical_ac": "O00555-8", "protein_name": "Voltage-dependent P/Q-type calcium channel subunit alpha-1A", "gene_name": "CACNA1A", "tax_id": 9606, "organism": "Homo sapiens", "sequence": { "sequence": "MARFGDEMPARYGGGGSGAAAGVVVGSGGGRGAGGSRQGGQPGAQRMYKQSMAQRARTMALYNPIPVRQNCLTVNRSLFLFSEDNVVRKYAKKITEWPPFEYMILATIIANCIVLALEQHLPDDDKTPMSERLDDTEPYFIGIFCFEAGIKIIALGFAFHKGSYLRNGWNVMDFVVVLTGILATVGTEFDLRTLRAVRVLRPLKLVSGIPSLQVVLKSIMKAMIPLLQIGLLLFFAILIFAIIGLEFYMGKFHTTCFEEGTDDIQGESPAPCGTEEPARTCPNGTKCQPYWEGPNNGITQFDNILFAVLTVFQCITMEGWTDLLYNSNDASGNTWNWLYFIPLIIIGSFFMLNLVLGVLSGEFAKERERVENRRAFLKLRRQQQIERELNGYMEWISKAEEVILAEDETDGEQRHPFDALRRTTIKKSKTDLLNPEEAEDQLADIASVGSPFARASIKSAKLENSTFFHKKERRMRFYIRRMVKTQAFYWTVLSLVALNTLCVAIVHYNQPEWLSDFLYYAEFIFLGLFMSEMFIKMYGLGTRPYFHSSFNCFDCGVIIGSIFEVIWAVIKPGTSFGISVLRALRLLRIFKVTKYWASLRNLVVSLLNSMKSIISLLFLLFLFIVVFALLGMQLFGGQFNFDEGTPPTNFDTFPAAIMTVFQILTGEDWNEVMYDGIKSQGGVQGGMVFSIYFIVLTLFGNYTLLNVFLAIAVDNLANAQELTKDEQEEEEAANQKLALQKAKEVAEVSPLSAANMSIAVKEQQKNQKPAKSVWEQRTSEMRKQNLLASREALYNEMDPDERWKAAYTRHLRPDMKTHLDRPLVVDPQENRNNNTNKSRAAEPTVDQRLGQQRAEDFLRKQARYHDRARDPSGSAGLDARRPWAGSQEAELSREGPYGRESDHHAREGSLEQPGFWEGEAERGKAGDPHRRHVHRQGGSRESRSGSPRTGADGEHRRHRAHRRPGEEGPEDKAERRARHREGSRPARGGEGEGEGPDGGERRRRHRHGAPATYEGDARREDKERRHRRRKENQGSGVPVSGPNLSTTRPIQQDLGRQDPPLAEDIDNMKNNKLATAESAAPHGSLGHAGLPQSPAKMGNSTDPGPMLAIPAMATNPQNAASRRTPNNPGNPSNPGPPKTPENSLIVTNPSGTQTNSAKTARKPDHTTVDIPPACPPPLNHTVVQVNKNANPDPLPKKEEEKKEEEEDDRGEDGPKPMPPYSSMFILSTTNPLRRLCHYILNLRYFEMCILMVIAMSSIALAAEDPVQPNAPRNNVLRYFDYVFTGVFTFEMVIKMIDLGLVLHQGAYFRDLWNILDFIVVSGALVAFAFTGNSKGKDINTIKSLRVLRVLRPLKTIKRLPKLKAVFDCVVNSLKNVFNILIVYMLFMFIFAVVAVQLFKGKFFHCTDESKEFEKDCRGKYLLYEKNEVKARDREWKKYEFHYDNVLWALLTLFTVSTGEGWPQVLKHSVDATFENQGPSPGYRMEMSIFYVVYFVVFPFFFVNIFVALIIITFQEQGDKMMEEYSLEKNERACIDFAISAKPLTRHMPQNKQSFQYRMWQFVVSPPFEYTIMAMIALNTIVLMMKFYGASVAYENALRVFNIVFTSLFSLECVLKVMAFGILNYFRDAWNIFDFVTVLGSITDILVTEFGNNFINLSFLRLFRAARLIKLLRQGYTIRILLWTFVQSFKALPYVCLLIAMLFFIYAIIGMQVFGNIGIDVEDEDSDEDEFQITEHNNFRTFFQALMLLFRSATGEAWHNIMLSCLSGKPCDKNSGILTRECGNEFAYFYFVSFIFLCSFLMLNLFVAVIMDNFEYLTRDSSILGPHHLDEYVRVWAEYDPAAWGRMPYLDMYQMLRHMSPPLGLGKKCPARVAYKRLLRMDLPVADDNTVHFNSTLMALIRTALDIKIAKGGADKQQMDAELRKEMMAIWPNLSQKTLDLLVTPHKSTDLTVGKIYAAMMIMEYYRQSKAKKLQAMREEQDRTPLMFQRMEPPSPTQEGGPGQNALPSTQLDPGGALMAHESGLKESPSWVTQRAQEMFQKTGTWSPEQGPPTDMPNSQPNSQSVEMREMGRDGYSDSEHYLPMEGQGRAASMPRLPAENQRRRGRPRGNNLSTISDTSPMKRSASVLGPKARRLDDYSLERVPPEENQRHHQRRRDRSHRASERSLGRYTDVDTGLGTDLSMTTQSGDLPSKERDQERGRPKDRKHRQHHHHHHHHHHPPPPDKDRYAQERPDHGRARARDQRWSRSPSEGREHMAHRQGSSSVSGSPAPSTSGTSTPRRGRRQLPQTPSTPRPHVSYSPVIRKAGGSGPPQQQQQQQQQQQQQAVARPGRAATSGPRRYPGPTAEPLAGDRPPTGGHSSGRSPRMERRVPGPARSESPRACRHGGARWPASGPHVSEGPPGPRHHGYYRGSDYDEADGPGSGGGEEAMAGAYDAPPPVRHASSGATGRSPRTPRASGPACASPSRHGRRLPNGYYPAHGLARPRGPGSRKGLHEPYSESDDDWC", "length": 2506 }, "evidence": [ { "id": "FB:FBgn0263111", "url": "https://alliancegenome.org/gene/FB:FBgn0263111#orthology", "database": "AGR" } ], "glygen_name": "Human", "common_name": "Human" }, { "uniprot_canonical_ac": "O55017-1", "protein_name": "Voltage-dependent N-type calcium channel subunit alpha-1B", "gene_name": "Cacna1b", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MVRFGDELGGRYGGTGGGERARGGGAGGAGGPGQGGLPPGQRVLYKQSIAQRARTMALYNPIPVKQNCFTVNRSLFVFSEDNVVRKYAKRITEWPPFEYMILATIIANCIVLALEQHLPDGDKTPMSERLDDTEPYFIGIFCFEAGIKIIALGFVFHKGSYLRNGWNVMDFVVVLTGILATAGTDFDLRTLRAVRVLRPLKLVSGIPSLQVVLKSIMKAMVPLLQIGLLLFFAILMFAIIGLEFYMGKFHKACFPNSTDTEPVGDFPCGKDPPARQCDGDTECREYWPGPNFGITNFDNILFAILTVFQCITMEGWTDILYNTNDAAGNTWNWLYFIPLIIIGSFFMLNLVLGVLSGEFAKERERVENRRAFLKLRRQQQIERELNGYLEWIFKAEEVMLAEEDKNAEEKSPLDVLKRAATKKSRNDLIHAEEGEDRFVDLCAVGSPFARASLKSGKTESSSYFRRKEKMFRFFIRRMVKAQSFYWVVLCVVALNTLCVAMVHYNQPQRLTTALYFAEFVFLGLFLTEMSLKMYGLGPRSYFRSSFNCFDFGVIVGSIFEVVWAAIKPGTSFGISVLRALRLLRIFKVTKYWNSLRNLVVSLLNSMKSIISLLFLLFLFIVVFALLGMQLFGGQFNFQDETPTTNFDTFPAAILTVFQILTGEDWNAVMYHGIESQGGVSKGMFSSFYFIVLTLFGNYTLLNVFLAIAVDNLANAQELTKDEEEMEEAANQKLALQKAKEVAEVSPMSAANISIAARQQNSAKARSVWEQRASQLRLQNLRASCEALYSEMDPEERLRYASTRHVRPDMKTHMDRPLVVEPGRDGLRGPVGSKSKPEGTEATESADLPRRHHRHRDRDKTSATAPAGGEQDRTESTETGAREERARPRRSHSKETPGADTQVRCERSRRHHRRGSPEEATEREPRRHRAHRHAQDSSKEGTAPVLVPKGERRARHRGPRTGPREAENNEEPTRRHRARHKVPPTLQPPEREAAEKESNAVEGDKETRNHQPKEPHCDLEAIAVTGVGPLHMLPSTCLQKVDEQPEDADNQRNVTRMGSQPSDPSTTVHVPVTLTGPPGETPVVPSGNMNLEGQAEGKKEAEADDVLRRGPRPIVPYSSMFCLSPTNLLRRFCHYIVTMRYFEMVILVVIALSSIALAAEDPVRTDSFRNNALKYMDYIFTGVFTFEMVIKMIDLGLLLHPGAYFRDLWNILDFIVVSGALVAFAFSSFMGGSKGKDINTIKSLRVLRVLRPLKTIKRLPKLKAVFDCVVNSLKNVLNILIVYMLFMFIFAVIAVQLFKGKFFYCTDESKELERDCRGQYLDYEKEEVEAQPRQWKKYDFHYDNVLWALLTLFTVSTGEGWPMVLKHSVDATYEEQGPSPGFRMELSIFYVVYFVVFPFFFVNIFVALIIITFQEQGDKVMSECSLEKNERACIDFAISAKPLTRYMPQNKQSFQYKTWTFVVSPPFEYFIMAMIALNTVVLMMKFYDAPYEYELMLKCLNIVFTSMFSMECILKIIAFGVLNYFRDAWNVFDFVTVLGSITDILVTEIANNFINLSFLRLFRAARLIKLLRQGYTIRILLWTFVQSFKALPYVCLLIAMLFFIYAIIGMQVFGNIALDDDTSINRHNNFRTFLQALMLLFRSATGEAWHEIMLSCLGNRACDPHANASECGSDFAYFYFVSFIFLCSFLMLNLFVAVIMDNFEYLTRDSSILGPHHLDEFIRVWAEYDPAACGRISYNDMFEMLKHMSPPLGLGKKCPARVAYKRLVRMNMPISNEDMTVHFTSTLMALIRTALEIKLAPAGTKQHQCDAELRKEISSVWANLPQKTLDLLVPPHKPDEMTVGKVYAALMIFDFYKQNKTTRDQTHQAPGGLSQMGPVSLFHPLKATLEQTQPAVLRGARVFLRQKSATSLSNGGAIQTQESGIKESLSWGTQRTQDALYEARAPLERGHSAEIPVGQSGTLAVDVQMQNMTLRGPDGEPQPGLESQGRAASMPRLAAETQPAPNASPMKRSISTLAPRPHGTQLCSTVLDRPPPSQASHHHHHRCHRRRDKKQRSLEKGPSLSVDPEGAPSTAAGPGLPHGEGSTACRRDRKQERGRSQERRQPSSSSSEKQRFYSCDRFGSREPPQLMPSLSSHPTSPTAALEPAPHPQGSGSVNGSPLMSTSGASTPGRGGRRQLPQTPLTPRPSITYKTANSSPVHFAEGQSGLPAFSPGRLSRGLSEHNALLQKEPLSQPLAPGSRIGSDPYLGQRLDSEASAHTLPEDTLTFEEAVATNSGRSSRTSYVSSLTSQSHPLRRVPNGYHCTLGLSTGVRARHSYHHPDQDHWC", "length": 2327 }, "evidence": [ { "id": "FB:FBgn0263111", "url": "https://alliancegenome.org/gene/FB:FBgn0263111#orthology", "database": "AGR" } ], "glygen_name": "Mouse", "common_name": "Mouse" }, { "uniprot_canonical_ac": "P50077-1", "protein_name": "Calcium-channel protein CCH1", "gene_name": "CCH1", "tax_id": 559292, "organism": "Saccharomyces cerevisiae S288C", "sequence": { "sequence": "MQGRKRTLTEPFEPNTNPFGDNAAVMTENVEDNSETDGNRLESKPQALVPPALNIVPPESSIHSTEEKKGDEYNGNDKDSSLISNIFRTRVGRSSHENLSRPKLSLKTASFGAAESSRRNVSPSTKSAKSSSQYIDLNDERLRRRSFSSYSRSSSRRVSNSPSSTDRPPRSAKVLSLIAADDMDDFEDLQKGFKSAIDEEGLTWLPQLKSEKSRPVSDVGEDRGEGEQESIPDVHTPNVGASATPGSIHLTPEPAQNGSVSEGLEGSINNSRKKPSPKFFHHLSPQKEDKDQTEVIEYAEDILDFETLQRKLESRPFVLYGHSLGVFSPTNPLRIKIARFLLHRRYSLLYNTLLTFYAILLAIRTYNPHNVVFLYRFSNWTDYFIFILSACFTGNDIAKIIAFGFWDDSEMFKAYGREYKSILQRSGIMKLYIYLREKYGRKLIDFIIPFRIISPGEETKYQRSSLSTSLTKPYGAKENQRPFGTPRAFARSSWNRIDLVSSVSFWLGMFLSIKSYDTKTGIRIFKPLAILRILRLVNVDTGMPSILRGLKYGIPQLVNVSSMLVYFWIFFGILGVQIFQGSFRRQCVWFNPEDPTDTYQYDMQFCGGYLDPVTKRKQNYIYEDGSEGSVSKGFLCPQYSKCVSNANPYNGRISFDNIVNSMELVFVIMSANTFTDLMYYTMDSDEMAACLFFIVCIFVLTIWLLNLLIAVLVSSFEIANEEYKKKKFIYGSRKTGYVARIVTGYWKYFKLKANQTKFPNWSQKGLAIYSHVEFIFVILIICDIGMRASVKVSTSANCNNILLKTDRGISIVLFIESLARLVLYLPNMWKFLTKPSYVYDFIISIITLVISCLAVEGVLGHMYAWLSIFHISRFYRVIISFNLTKKLWKQILSNGVMIWNLSSFYFFFTFLVAIIMAVYFEGVIPPEEMADQPFGMYSLPNSFLSLFIIGSTENWTDILYALQKHSPNISSTFFCSVFFIIWFLLSNSVILNIFIALISESMEVKEEEKRPQQIKHYLKFVYPQKIQEYTHASLVARIRKKFFGGHRNEDTRDFKQFLMRGTAIMNIAQNMGELADEFKEPPSENLFKKGLSKLTIGVPSLKRLRMFANNPFYKNSDVVFTETNDINGRTYILELNEYEDEKLDYLKKYPLFNYSYYFFSPQHRFRRFCQRLVPPSTGKRTDGSRFFEDSTDLYNKRSYFHHIERDVFVFIFALATILLIVCSCYVTPLYRMHHKMGTWNWSSALDCAFIGAFSIEFIVKTVADGFIYSPNAYLRNPWNFIDFCVLISMWINLIAYLKNNGNLSRIFKGLTALRALRCLTISNTARQTFNLVMFDGLNKIFEAGLISLSLLFPFTVWGLSIFKGRLGTCNDGSLGRADCYNEYSNSVFQWDIMSPRVYQQPYLHLDSFASAFSSLYQIISLEGWVDLLENMMNSSGIGTPATVMGSAGNALFLVLFNFLSMVFILNLFVSFIVNNQARTTGSAYFTIEEKAWLESQKLLSQAKPKAIPNLIELSRVRQFFYQLAVEKKNFYYASFLQVVLYLHIIMLLSRSYNPGNLIGYQGVYFMFSTSVFLIQEALHMCGEGPRLYFRQKWNSIRLSIIIIAFIMNAVAFHVPASHYWFHNIKGFFLLVIFLFIIPQNDTLTELLETAMASLPPILSLTYTWGVLFLVYAIALNQIFGLTRLGSNTTDNINFRTVIKSMIVLFRCSFGEGWNYIMADLTVSEPYCSSDDNSTYTDCGSETYAYLLLMSWNIISMYIFVNMFVSLIIGNFSYVYRSGGSRSGINRSEIKKYIEAWSKFDTDGTGELELSYLPRIMHSFDGPLSFKIWEGRLTIKSLVENYMEVNPDDPYDVKIDLIGLNKELNTIDKAKIIQRKLQYRRFVQSIHYTNAYNGCIRFSDLLLQIPLYTAYSARECLGIDQYVHHLYILGKVDKYLENQRNFDVLEMVVTRWKFHCRMKRTIEPEWDVKDPTVSSHISNINVNLEPAPGILEREPIATPRMDYGVNNFMWSPRMNQDSTMEPPEEPIDNNDDSANDLIDR", "length": 2039 }, "evidence": [ { "id": "ZFIN:ZDB-GENE-070705-133", "url": "https://alliancegenome.org/gene/ZFIN:ZDB-GENE-070705-133#orthology", "database": "AGR" }, { "id": "FB:FBgn0263111", "url": "https://alliancegenome.org/gene/FB:FBgn0263111#orthology", "database": "AGR" } ], "glygen_name": "Yeast", "common_name": "Baker's yeast" }, { "uniprot_canonical_ac": "P54282-1", "protein_name": "Voltage-dependent P/Q-type calcium channel subunit alpha-1A", "gene_name": "Cacna1a", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MARFGDEMPGRYGAGGGGSGPAAGVVVGAAGGRGAGGSRQGGQPGAQRMYKQSMAQRARTMALYNPIPVRQNCLTVNRSLFLFSEDNVVRKYAKKITEWPPFEYMILATIIANCIVLALEQHLPDDDKTPMSERLDDTEPYFIGIFCFEAGIKIVALGFAFHKGSYLRNGWNVMDFVVVLTGILATVGTEFDLRTLRAVRVLRPLKLVSGIPSLQVVLKSIMKAMIPLLQIGLLLFFAILIFAIIGLEFYMGKFHTTCFEEGTDDIQGESPAPCGTEEPARTCPNGTKCQPYWEGPNNGITQFDNILFAVLTVFQCITMEGWTDLLYNSNDASGNTWNWLYFIPLIIIGSFFMLNLVLGVLSGEFAKERERVENRRAFLKLRRQQQIERELNGYMEWISKAEEVILAEDETDVEQRHPFDGALRRATLKKSKTDLLNPEEAEDQLADIASVGSPFARASIKSAKLENSTFFHKKERRMRFYIRRMVKTQAFYWTVLSLVALNTLWLAIVHYNQPEWLSDFLYYAEFIFLGLFMSEMFIKMYGLGTRPYFHSSFNCFDCGVIIGSIFEVIWAVIKPGTSFGISVLRALRLLRIFKVTKYWASLRNLVVSLLNSMKSIISLLFLLFLFIVVFALLGMQLFGGQFNFDEGTPPTNFDTFPAAIMTVFQILTGEDWNEVMYDEIKSQGGVQGGMVFSIYFIVLTLFGNYTLLNVFLAIAVDNLANAQELTKDEQEEEEAANQKLALQKAKEVAEVSPLSAANMSIAVKEQQKNQKPAKSVWEQRTSEMRKQNLLASREALYGDAAERWPTTYARPLRPDVKTHLDRPLVVDPQENRNNNTNKSRAPEALRQTARPRESARDPDARRAWPSSPERAPGREGPYGRESEPQQREHAPPREHVPWDADPERAKAGDAPRRHTHRPVAEGEPRRHRARRRPGDEPDDRPERRPRPRDATRPARAADGEGDDGERKRRHRHGPPAHDDRERRHRRRKESQGSGVPMSGPNLSTTRPIQQDLGRQDLPLAEDLDNMKNNKLATGEPASPHDSLGHSGLPPSPAKIGNSTNPGPALATNPQNAASRRTPNNPGNPSNPGPPKTPENSLIVTNPSSTQPNSAKTARKPEHMAVEIPPACPPLNHTVVQVNKNANPDPLPKKEEEKKEEEEADPGEDGPKPMPPYSSMFILSTTNPLRRLCHYILNLRYFEMCILMVIAMSSIALAAEDPVQPNAPRNNVLRYFDYVFTGVFTFEMVIKMIDLGLVLHQGAYFRDLWNILDFIVVSGALVAFAFTGNSKGKDINTIKSLRVLRVLRPLKTIKRLPKLKAVFDCVVNSLKNVFNILIVYMLFMFIFAVVAVQLFKGKFFHCTDESKEFERDCRGKYLLYEKNEVKARDREWKKYDFHYDNVLWALLTLFTVSTGEGWPQVLKHSVDATFENQGPSPGYRMEMSIFYVVYFVVFPFFFVNIFVALIIITFQEQGDKMMEEYSLEKNERACIDFAISAKPLTRHMPQNKQSFQYRMWQFVVSPPFEYTIMAMIALNTIVLMMKFYGASVAYENALRVFNIVFTSLFSLECVLKVMAFGILNYFRDAWNIFDFVTVLGSITDILVTEFGNNFINLSFLRLFRAARLIKLLRQGYTIRILLWTFVQSFKALPYVCLLIAMLFFIYAIIGMQVFGNIGIDGEDEDSDEDEFQITEHNNFRTFFQALMLLFRSATGEAWHNIMLSCLSGKPCDKNSGIQKPECGNEFAYFYFVSFIFLCSFLMLNLFVAVIMDNFEYLTRDSSILGPHHLDEYVRVWAEYDPAACGRIHYKDMYSLLRVISPPLGLGKKCPHRVACKRLLRMDLPVADDNTVHFNSTLMALIRTALDIKIAKGGADKQQMDAELRKEMMAIWPNLSQKTLDLLVTPHKSTDLTVGKIYAAMMIMEYYRQSKAKKLQAMREEQNRTPLMFQRMEPPSPTQEGGPSQNALPSTQLDPGGGLMAQESSMKESPSWVTQRAQEMFQKTGTWSPERGPPIDMPNSQPNSQSVEMREMGTDGYSDSEHYLPMEGQTRAASMPRLPAENQRRRGRPRGNNLSTISDTSPMKRSASVLGPKARRLDDYSLERVPPEENQRYHQRRRDRGHRTSERSLGRYTDVDTGLGTDLSMTTQSGDLPSKDRDQDRGRPKDRKHRPHHHHHHHHHHPPAPDRERYAQERPDTGRARAREQRWSRSPSEGREHATHRQ", "length": 2212 }, "evidence": [ { "id": "FB:FBgn0263111", "url": "https://alliancegenome.org/gene/FB:FBgn0263111#orthology", "database": "AGR" } ], "glygen_name": "Rat", "common_name": "Rat" }, { "uniprot_canonical_ac": "P91645-1", "protein_name": "Voltage-dependent calcium channel type A subunit alpha-1", "gene_name": "cac", "tax_id": 7227, "organism": "Drosophila melanogaster", "sequence": { "sequence": "MGGPKKEENPPGGGPTSLFILTEDNPIRKYTRFIIEWPPFEYAVLLTIIANCVVLALEEHLPGGDKTVLAQKLEKTEAYFLCIFCVEASLKILALGLVLHKHSYLRNIWNIMDFFVVVTGFMTQYPQIGPEVDLRTLRAIRVLRPLKLVSGIPSLQVVLKSIIKAMAPLLQIGLLVLFAIVIFAIIGLEFYSGALHKTCYSLEDPNKLVKEGESETPCNTDNILEKATGSFVCNNTTSMCLEKWEGPNSGITSFDNIGFAMLTVFQCITMEGWTAILYWTNDALGSAFNWIYFVPLIVIGSFFMLNLVLGVLSGEFSNERNRVERRMEFQKCRFRAMFQTAMVSYLDWITQAEEVILAEERTTEEEKMHIMEARRRNAAKRKKLKSLGKSKSTDTEEEEAEEDYGDDGYLKTRSKPQGSCTGFWRAEKRFRFWIRHTVKTQWFYWFVIVLVFLNTVCVAVEHYGQPSFLTEFLYYAEFIFLGLFMSEMFIKMYALGPRIYFESSFNRFDCVVISGSIFEVIWSEVKGGSFGLSVLRALRLLRIFKVTKYWSSLRNLVISLLNSMRSIISLLFLLFLFILIFALLGMQLFGGQFNLPGGTPETNFNTFPIALLTVFQILTGEDWNEVMYQGIISQGGAQKGMIYSIYFIVLVLFGNYTLLNVFLAIAVDNLANAQELTAAEEEQVEEDKEKQLQELEKEMEALQADGVHVENGDGAVAPSKSKGKKKEEEKKEEEEVTEGPKPMLPYSSMFILSPTNPIRRGAHWVVNLPYFDFFIMVVISMSSIALAAEDPVRENSRRNKILNYFDYAFTGVFTIEMLLKIVDLGVILHPGSYLREFWNIMDAVVVICAAVSFGFDMSGSSAGQNLSTIKSLRVLRVLRPLKTIKRVPKLKAVFDCVVNSLKNVVNILIVYILFQFIFSVIGVQLFNGKFFYCTDESKHTSAECQGSYFKYEEDELLPKQELRVWKPRAFHYDNVAAAMLTLFAVQTGEGWPQVLQHSMAATYEDRGPIQNFRIEMSIFYIVYFIVFPFFFVNIFVALIIITFQEQGEAELQDGEIDKNQKSCIDFTIGARPLERYMPKNRNTFKYKVWRIVVSTPFEYFIMMLIVFNTLLLMMKYHNQGDMYEKSLKYINMGFTGMFSVETVLKIIGFGVKNFFKDPWNIFDLITVLGSIVDALWMEFGHDDSNSINVGFLRLFRAARLIKLLRQGYTIRILLWTFVQSFKALPYVCLLIAMLFFIYAIIGMQVFGNIKLGTVENSITRHNNFQSFIQGVMLLFRCATGEAWPNIMLACLKGKACDDDAEKAPGEYCGSTLAYAYFVSFIFFCSFLMLNLFVAVIMDNFDYLTRDSSILGAHHLDEFVRIWAEYDPNATGKIHYTEMYDMLKNMDPPLGFGNKCPNRLAYKKLIRMNMPLDDELRVQFTTTLFALIRENLSIKMRAPEEMDQADMELRETITNIWPLQAKKMLNLLVPPSDQLNKGKLSVGKIYAGFLILESWRSTRFGQLDSGMPMLELQDASRHPSQESLTGADAGHLHPGHSYMNGHRRSPSLRHNGSPLARSPSPRRRGHQYIHHDIGFSDTVSNVVEMVKETRHPRHGNSHPRYPRGSWSASTSPARSPSPSRYGGHLSRSKRTQLPYPTYGTTSLCQRSRSPSPARLQEMRERDRLGYGIDMGVTHVQHSYPTLASRRAGIGRRLPPTPSKPSTLQLKPTNINFPKLNASPTHTHHSTPHSVHSLPHHRDLLRDPRDMYYSSRERERDRERLRDRDRDRDRDRLHEYDLRYEYRDRERELYERERDREREVERERLEYIAPLSFEQALAMGRTGRVLPSPVLNGFKPKSGLNPRHSDSDEEDWC", "length": 1851 }, "evidence": [ { "id": "ZFIN:ZDB-GENE-070705-133", "url": "https://alliancegenome.org/gene/ZFIN:ZDB-GENE-070705-133#orthology", "database": "AGR" }, { "id": "FB:FBgn0263111", "url": "https://alliancegenome.org/gene/FB:FBgn0263111#orthology", "database": "AGR" }, { "id": "RGD:2246", "url": "https://alliancegenome.org/gene/RGD:2246#orthology", "database": "AGR" }, { "id": "HGNC:1392", "url": "https://alliancegenome.org/gene/HGNC:1392#orthology", "database": "AGR" }, { "id": "MGI:106217", "url": "https://alliancegenome.org/gene/MGI:106217#orthology", "database": "AGR" } ], "glygen_name": "Fruit fly", "common_name": "Fruit fly" }, { "uniprot_canonical_ac": "P97445-1", "protein_name": "Voltage-dependent P/Q-type calcium channel subunit alpha-1A", "gene_name": "Cacna1a", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MARFGDEMPGRYGAGGGGSGPAAGVVVGAAGGRGAGGSRQGGQPGAQRMYKQSMAQRARTMALYNPIPVRQNCLTVNRSLFLFSEDNVVRKYAKKITEWPPFEYMILATIIANCIVLALEQHLPDDDKTPMSERLDDTEPYFIGIFCFEAGIKIVALGFAFHKGSYLRNGWNVMDFVVVLTGILATVGTEFDLRTLRAVRVLRPLKLVSGIPSLQVVLKSIMKAMIPLLQIGLLLFFAILIFAIIGLEFYMGKFHTTCFEEGTDDIQGESPAPCGTEEPARTCPNGTKCQPYWEGPNNGITQFDNILFAVLTVFQCITMEGWTDLLYNSNDASGNTWNWLYFIPLIIIGSFFMLNLVLGVLSGEFAKERERVENRRAFLKLRRQQQIERELNGYMEWISKAEEVILAEDETDVEQRHPFDGALRRATLKKSKTDLLNPEEAEDQLADIASVGSPFARASIKSAKLENSTFFHKKERRMRFYIRRMVKTQAFYWTVLSLVALNTLCVAIVHYNQPEWLSDFLYYAEFIFLGLFMSEMFIKMYGLGTRPYFHSSFNCFDCGVIIGSIFEVIWAVIKPGTSFGISVLRALRLLRIFKVTKYWASLRNLVVSLLNSMKSIISLLFLLFLFIVVFALLGMQLFGGQFNFDEGTPPTNFDTFPAAIMTVFQILTGEDWNEVMYDGIKSQGGVQGGMVFSIYFIVLTLFGNYTLLNVFLAIAVDNLANAQELTKDEQEEEEAANQKLALQKAKEVAEVSPLSAANMSIAVKEQQKNQKPTKSVWEQRTSEMRKQNLLASREALYGDAAERWPTPYARPLRPDVKTHLDRPLVVDPQENRNNNTNKSRAPEALRPTARPRESARDPDARRAWPGSPERAPGREGPYGRESEPQQREHAPPREHAPWDADTERAKAGDAPRRHTHRPVAEGEPRRHRARRRPGDEPDDRPERRPRPRDATRPARAADGEGDDGERKRRHRHGPPAHDDRERRHRRRKENQGSGVPVSGPNLSTTRPIQQDLGRQDLPLAEDLDNMKNNKLATGEPASPHDSLGHSGLPPSPAKIGNSTNPGPALATNPQNAASRRTPNNPGNPSNPGPPKTPENSLIVTNPSSTQPNSAKTARKPEHMAVEIPPACPPLNHTVVQVNKNANPDPLPKKEEEKKEEEEADPGEDGPKPMPPYSSMFILSTTNPLRRLCHYILNLRYFEMCILMVIAMSSIALAAEDPVQPNAPRNNVLRYFDYVFTGVFTFEMVIKMIDLGLVLHQGAYFRDLWNILDFIVVSGALVAFAFTGNSKGKDINTIKSLRVLRVLRPLKTIKRLPKLKAVFDCVVNSLKNVFNILIVYMLFMFIFAVVAVQLFKGKFFHCTDESKEFERDCRGKYLLYEKNEVKARDREWKKYEFHYDNVLWALLTLFTVSTGEGWPQVLKHSVDATFENQGPSPGYRMEMSIFYVVYFVVFPFFFVNIFVALIIITFQEQGDKMMEEYSLEKNERACIDFAISAKPLTRHMPQNKQSFQYRMWQFVVSPPFEYTIMAMIALNTIVLMMKFYGASVAYENALRVFNIVFTSLFSLECVLKVMAFGILNYFRDAWNIFDFVTVLGSITDILVTEFGNNFINLSFLRLFRAARLIKLLRQGYTIRILLWTFVQSFKALPYVCLLIAMLFFIYAIIGMQVFGNIGIDGEDEDSDEDEFQITEHNNFRTFFQALMLLFRSATGEAWHNIMLSCLSGKPCDKNSGILTADCGNEFAYFYFVSFIFLCSFLMLNLFVAVIMDNFEYLTRDSSILGPHHLDEYVRVWAEYDPAACGRIHYKDMYSLLRVISPPLGLGKKCPHRVACKRLLRMDLPVADDNTVHFNSTLMALIRTALDIKIAKGGADKQQMDAELRKEMMAIWPNLSQKTLDLLVTPHKSTDLTVGKIYAAMMIMEYYRQSKAKKLQAMREEQNRTPLMFQRMEPPSPTQEGGPSQNALPSTQLDPGGGLMAHEGGMKESPSWVTQRAQEMFQKTGTWSPERGPPIDMPNSQPNSQSVEMREMGTDGYSDSEHYLPMEGQTRAASMPRLPAENQRRRGRPRGNDLSTISDTSPMKRSASVLGPKARRLDDYSLERVPPEENQRYHQRRRDRGHRTSERSLGRYTDVDTGLGTDLSMTTQSGDLPSKDRDQDRGRPKDRKHRPHHHHHHHHHHPPAPDRDRYAQERPDTGRARAREQRWSRSPSEGREHTTHRQGSSSVSGSPAPSTSGTSTPRRGRRQLPQTPCTPRPLVSYSPAPRRPAARRMAGPAAPPGGSPRGCRRAPRWPAHAPEGPRPRGADYTEPDSPREPPGGAHDPAPRSPRTPRAAGCASPRHGRRLPNGYYAGHGAPRPRTARRGAHDAYSESEDDWC", "length": 2368 }, "evidence": [ { "id": "FB:FBgn0263111", "url": "https://alliancegenome.org/gene/FB:FBgn0263111#orthology", "database": "AGR" } ], "glygen_name": "Mouse", "common_name": "Mouse" }, { "uniprot_canonical_ac": "Q00975-1", "protein_name": "Voltage-dependent N-type calcium channel subunit alpha-1B", "gene_name": "CACNA1B", "tax_id": 9606, "organism": "Homo sapiens", "sequence": { "sequence": "MVRFGDELGGRYGGPGGGERARGGGAGGAGGPGPGGLQPGQRVLYKQSIAQRARTMALYNPIPVKQNCFTVNRSLFVFSEDNVVRKYAKRITEWPPFEYMILATIIANCIVLALEQHLPDGDKTPMSERLDDTEPYFIGIFCFEAGIKIIALGFVFHKGSYLRNGWNVMDFVVVLTGILATAGTDFDLRTLRAVRVLRPLKLVSGIPSLQVVLKSIMKAMVPLLQIGLLLFFAILMFAIIGLEFYMGKFHKACFPNSTDAEPVGDFPCGKEAPARLCEGDTECREYWPGPNFGITNFDNILFAILTVFQCITMEGWTDILYNTNDAAGNTWNWLYFIPLIIIGSFFMLNLVLGVLSGEFAKERERVENRRAFLKLRRQQQIERELNGYLEWIFKAEEVMLAEEDRNAEEKSPLDVLKRAATKKSRNDLIHAEEGEDRFADLCAVGSPFARASLKSGKTESSSYFRRKEKMFRFFIRRMVKAQSFYWVVLCVVALNTLCVAMVHYNQPRRLTTTLYFAEFVFLGLFLTEMSLKMYGLGPRSYFRSSFNCFDFGVIVGSVFEVVWAAIKPGSSFGISVLRALRLLRIFKVTKYWSSLRNLVVSLLNSMKSIISLLFLLFLFIVVFALLGMQLFGGQFNFQDETPTTNFDTFPAAILTVFQILTGEDWNAVMYHGIESQGGVSKGMFSSFYFIVLTLFGNYTLLNVFLAIAVDNLANAQELTKDEEEMEEAANQKLALQKAKEVAEVSPMSAANISIAARQQNSAKARSVWEQRASQLRLQNLRASCEALYSEMDPEERLRFATTRHLRPDMKTHLDRPLVVELGRDGARGPVGGKARPEAAEAPEGVDPPRRHHRHRDKDKTPAAGDQDRAEAPKAESGEPGAREERPRPHRSHSKEAAGPPEARSERGRGPGPEGGRRHHRRGSPEEAAEREPRRHRAHRHQDPSKECAGAKGERRARHRGGPRAGPREAESGEEPARRHRARHKAQPAHEAVEKETTEKEATEKEAEIVEADKEKELRNHQPREPHCDLETSGTVTVGPMHTLPSTCLQKVEEQPEDADNQRNVTRMGSQPPDPNTIVHIPVMLTGPLGEATVVPSGNVDLESQAEGKKEVEADDVMRSGPRPIVPYSSMFCLSPTNLLRRFCHYIVTMRYFEVVILVVIALSSIALAAEDPVRTDSPRNNALKYLDYIFTGVFTFEMVIKMIDLGLLLHPGAYFRDLWNILDFIVVSGALVAFAFSGSKGKDINTIKSLRVLRVLRPLKTIKRLPKLKAVFDCVVNSLKNVLNILIVYMLFMFIFAVIAVQLFKGKFFYCTDESKELERDCRGQYLDYEKEEVEAQPRQWKKYDFHYDNVLWALLTLFTVSTGEGWPMVLKHSVDATYEEQGPSPGYRMELSIFYVVYFVVFPFFFVNIFVALIIITFQEQGDKVMSECSLEKNERACIDFAISAKPLTRYMPQNRQSFQYKTWTFVVSPPFEYFIMAMIALNTVVLMMKFYDAPYEYELMLKCLNIVFTSMFSMECVLKIIAFGVLNYFRDAWNVFDFVTVLGSITDILVTEIAETNNFINLSFLRLFRAARLIKLLRQGYTIRILLWTFVQSFKALPYVCLLIAMLFFIYAIIGMQVFGNIALDDDTSINRHNNFRTFLQALMLLFRSATGEAWHEIMLSCLSNQACDEQANATECGSDFAYFYFVSFIFLCSFLMLNLFVAVIMDNFEYLTRDSSILGPHHLDEFIRVWAEYDPAACGRISYNDMFEMLKHMSPPLGLGKKCPARVAYKRLVRMNMPISNEDMTVHFTSTLMALIRTALEIKLAPAGTKQHQCDAELRKEISVVWANLPQKTLDLLVPPHKPDEMTVGKVYAALMIFDFYKQNKTTRDQMQQAPGGLSQMGPVSLFHPLKATLEQTQPAVLRGARVFLRQKSSTSLSNGGAIQNQESGIKESVSWGTQRTQDAPHEARPPLERGHSTEIPVGRSGALAVDVQMQSITRRGPDGEPQPGLESQGRAASMPRLAAETQPVTDASPMKRSISTLAQRPRGTHLCSTTPDRPPPSQASSHHHHHRCHRRRDRKQRSLEKGPSLSADMDGAPSSAVGPGLPPGEGPTGCRRERERRQERGRSQERRQPSSSSSEKQRFYSCDRFGGREPPKPKPSLSSHPTSPTAGQEPGPHPQGSGSVNGSPLLSTSGASTPGRGGRRQLPQTPLTPRPSITYKTANSSPIHFAGAQTSLPAFSPGRLSRGLSEHNALLQRDPLSQPLAPGSRIGSDPYLGQRLDSEASVHALPEDTLTFEEAVATNSGRSSRTSYVSSLTSQSHPLRRVPNGYHCTLGLSSGGRARHSYHHPDQDHWC", "length": 2339 }, "evidence": [ { "id": "FB:FBgn0263111", "url": "https://alliancegenome.org/gene/FB:FBgn0263111#orthology", "database": "AGR" } ], "glygen_name": "Human", "common_name": "Human" }, { "uniprot_canonical_ac": "Q02294-1", "protein_name": "Voltage-dependent N-type calcium channel subunit alpha-1B", "gene_name": "Cacna1b", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MVRFGDELGGRYGGTGGGERARGGGAGGAGGPGQGGLPPGQRVLYKQSIAQRARTMALYNPIPVKQNCFTVNRSLFVFSEDNVVRKYAKRITEWPPFEYMILATIIANCIVLALEQHLPDGDKTPMSERLDDTEPYFIGIFCFEAGIKIIALGFVFHKGSYLRNGWNVMDFVVVLTEILATAGTDFDLRTLRAVRVLRPLKLVSGIPSLQVVLKSIMKAMVPLLQIGLLLFFAILMFAIIGLEFYMGKFHKACFPNSTDAEPVGDFPCGKEAPARLCDSDTECREYWPGPNFGITNFDNILFAILTVFQCITMEGWTDILYNTNDAAGNTWNWLYFIPLIIIGSFFMLNLVLGVLSGEFAKERERVENRRAFLKLRRQQQIERELNGYLEWIFKAEEVMLAEEDKNAEEKSPLDAVLKRAATKKSRNDLIHAEEGEDRFVDLCAAGSPFARASLKSGKTESSSYFRRKEKMFRFLIRRMVKAQSFYWVVLCVVALNTLCVAMVHYNQPQRLTTALYFAEFVFLGLFLTEMSLKMYGLGPRSYFRSSFNCFDFGVIVGSIFEVVWAAIKPGTSFGISVLRALRLLRIFKVTKYWNSLRNLVVSLLNSMKSIISLLFLLFLFIVVFALLGMQLFGGQFNFQDETPTTNFDTFPAAILTVFQILTGEDWNAVMYHGIESQGGVSKGMFSSFYFIVLTLFGNYTLLNVFLAIAVDNLANAQELTKDEEEMEEAANQKLALQKAKEVAEVSPMSAANISIAARQQNSAKARSVWEQRASQLRLQNLRASCEALYSEMDPEERLRYASTRHVRPDMKTHMDRPLVVEPGRDGLRGPAGNKSKPEGTEATEGADPPRRHHRHRDRDKTSASTPAGGEQDRTDCPKAESTETGAREERARPRRSHSKEAPGADTQVRCERSRRHHRRGSPEEATEREPRRHRAHRHAQDSSKEGKEGTAPVLVPKGERRARHRGPRTGPRETENSEEPTRRHRAKHKVPPTLEPPEREVAEKESNVVEGDKETRNHQPKEPRCDLEAIAVTGVGSLHMLPSTCLQKVDEQPEDADNQRNVTRMGSQPSDPSTTVHVPVTLTGPPGEATVVPSANTDLEGQAEGKKEAEADDVLRRGPRPIVPYSSMFCLSPTNLLRRFCHYIVTMRYFEMVILVVIALSSIALAAEDPVRTDSFRNNALKYMDYIFTGVFTFEMVIKMIDLGLLLHPGAYFRDLWNILDFIVVSGALVAFAFSSFMGGSKGKDINTIKSLRVLRVLRPLKTIKRLPKLKAVFDCVVNSLKNVLNILIVYMLFMFIFAVIAVQLFKGKFFYCTDESKELERDCRGQYLDYEKEEVEAQPRQWKKYDFHYDNVLWALLTLFTVSTGEGWPMVLKHSVDATYEEQGPSPGFRMELSIFYVVYFVVFPFFFVNIFVALIIITFQEQGDKVMSECSLEKNERACIDFAISAKPLTRYMPQNKQSFQYKTWTFVVSPPFEYFIMAMIALNTVVLMMKFYDAPYEYELMLKCLNIVFTSMFSLECILKIIAFGVLNYFRDAWNVFDFVTVLGSITDILVTEIANNFINLSFLRLFRAARLIKLCRQGYTIRILLWTFVQSFKALPYVCLLIAMLFFIYAIIGMQVFGNIALDDGTSINRHNNFRTFLQALMLLFRSATGEAWHEIMLSCLGNRACDPHANASECGSDFAYFYFVSFIFLCSFLMLNLFVAVIMDNFEYLTRDSSILGPHHLDEFIRVWAEYDPAACGRISYNDMFEMLKHMSPPLGLGKKCPARVAYKRLVRMNMPISNEDMTVHFTSTLMALIRTALEIKLAPAGTKQHQCDAELRKEISSVWANLPQKTLDLLVPPHKPDEMTVGKVYAALMIFDFYKQNKTTRDQTHQAPGGLSQMGPVSLFHPLKATLEQTQPAVLRGARVFLRQKSATSLSNGGAIQTQESGIKESLSWGTQRTQDVLYEARAPLERGHSAEIPVGQPGALAVDVQMQNMTLRGPDGEPQPGLESQGRAASMPRLAAETQPAPNASPMKRSISTLAPRPHGTQLCNTVLDRPPPSQVSHHHHHRCHRRRDKKQRSLEKGPSLSVDTEGAPSTAAGSGLPHGEGSTGCRRERKQERGRSQERRQPSSSSSEKQRFYSCDRFGSREPPQPKPSLSSHPISPTAALEPGPHPQGSGSVNGSPLMSTSGASTPGRGGRRQLPQTPLTPRPSITYKTANSSPVHFAEGQSGLPAFSPGRLSRGLSEHNALLQKEPLSQPLASGSRIGSDPYLGQRLDSEASAHNLPEDTLTFEEAVATNSGRSSRTSYVSSLTSQSHPLRRVPNGYHCTLGLSTGVRARHSYHHPDQDHWC", "length": 2336 }, "evidence": [ { "id": "FB:FBgn0263111", "url": "https://alliancegenome.org/gene/FB:FBgn0263111#orthology", "database": "AGR" } ], "glygen_name": "Rat", "common_name": "Rat" }, { "uniprot_canonical_ac": "Q07652-1", "protein_name": "Voltage-dependent R-type calcium channel subunit alpha-1E", "gene_name": "Cacna1e", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MALYNPIPVRQNCFTVNRSLFIFGEDNIVRKYAKKLIDWPPFEYMILATIIANCIVLALEQHLPEDDKTPMSRRLEKTEPYFIGIFCFEAGIKIVALGFIFHKGSYLRNGWNVMDFIVVLSGILATAGTHFNTHVDLRTLRAVRVLRPLKLVSGIPSLQIVLKSIMKAMVPLLQIGLLLFFAILMFAIIGLEFYSGKLHRACFMNNSGILEGFDPPHPCGVQGCPAGYECKDWIGPNDGITQFDNILFAVLTVFQCITMEGWTTVLYNTNDALGATWNWLYFIPLIIIGSFFVLNLVLGVLSGEFAKERERVENRRAFMKLRRQQQIERELNGYRAWIDKAEEVMLAEENKNSGTSALEVLRRATIKRSRTEAMTRDSSDEHCVDISSVGTPLARASIKSTKVDGASYFRHKERLLRISIRHMVKSQVFYWIVLSVVALNTACVAIVHHNQPQWLTHLLYYAEFLFLGLFLLEMSLKMYGMGPRLYFHSSFNCFDFGVTVGSIFEVVWAIFRPGTSFGISVLRALRLLRIFKITKYWASLRNLVVSLMSSMKSIISLLFLLFLFIVVFALLGMQLFGGRFNFNDGTPSANFDTFPAAIMTVFQILTGEDWNEVMYNGIRSQGGVSSGMWSAIYFIVLTLFGNYTLLNVFLAIAVDNLANAQELTKDEQEEEEAFNQKHALQKAKEVSPMSAPNMPSIERDRRRRHHMSMWEPRSSHLRERRRRHHMSVWEQRTSQLRRHMQMSSQEALNKEEAPPMNPLNPLNPLSPLNPLNAHPSLYRRPRPIEGLALGLGLEKCEEERISRGGSLKGDIGGLTSVLDNQRSPLSLGKREPPWLPRSCHGNCDPTQQETGGGETVVTFEDRARHRQSQRRSRHRRVRTEGKESASASRSRSASQERSLDEGVSIDGEKEHEPQSSHRSKEPTIHEEERTQDLRRTNSLMVPRGSGLVGALDEAETPLVQPQPELEVGKDAALTEQEAEGSSEQALLADVQLDVGRGISQSEPDLSCMTTNMDKATTESTSVTVAIPDVDPLVDSTVVNISNKTDGEASPLKEAETKEEEEEVEKKKQKKEKRETGKAMVPHSSMFIFSTTNPIRKACHYIVNLRYFEMCILLVIAASSIALAAEDPVLTNSERNKVLRYFDYVFTGVFTFEMVIKMIDQGLILQDGSYFRDLWNILDFVVVVGALVAFALANALGTNKGRDIKTIKSLRVLRVLRPLKTIKRLPKLKAVFDCVVTSLKNVFNILIVYKLFMFIFAVIAVQLFKGKFFYCTDSSKDTEKECIGNYVDHEKNKMEVKGREWKRHEFHYDNIIWALLTLFTVSTGEGWPQVLQHSVDVTEEDRGPSRSNRMEMSIFYVVYFVVFPFFFVNIFVALIIITFQEQGDKMMEECSLEKNERACIDFAISAKPLTRYMPQNRHTFQYRVWHFVVSPSFEYTIMAMIALNTVVLMMKYYSAPWTYELALKYLNIAFTMVFSLECVLKVIAFGFLNYFRDTWNIFDFITVIGSITEIILTDSKLVNTSGFNMSFLKLFRAARLIKLLRQGYTIRILLWTFVQSFKALPYVCLLIAMLFFIYAIIGMQVFGNIKLDEESHINRHNNFRSFFGSLMLLFRSATGEAWQEIMLSCLGEKGCEPDTTAPSGQNESERCGTDLAYVYFVSFIFFCSFLMLNLFVAVIMDNFEYLTRDSSILGPHHLDEFVRVWAEYDRAACGRIHYTEMYEMLTLMSPPLGLGKRCPSKVAYKRLVLMNMPVAEDMTVHFTSTLMALIRTALDIKIAKGGADRQQLDSELQKETLAIWPHLSQKMLDLLVPMPKASDLTVGKIYAAMMIMDYYKQSKVKKQRQQLEEQKNAPMFQRMEPSSLPQEIISNAKALPYLQQDPVSGLSGRSGYPSMSPLSPQEIFQLACMDPADDGQFQEQQSLVVTDPSSMRRSFSTIRDKRSNSSWLEEFSMERSSENTYKSRRRSYHSSLRLSAHRLNSDSGHKSDTHRSGGRERGRSKERKHLLSPDVSRCNSEERGTQADWESPERRQSRSPSEGRSQTPNRQGTGSLSESSIPSISDTSTPRRSRRQLPPVPPKPRPLLSYSSLMRHTGGISPPPDGSEGGSPLASQALESNSACLTESSNSLHPQQGQHPSPQHYISEPYLALHEDSHASDCGEEETLTFEAAVATSLGRSNTIGSAPPLRHSWQMPNGHYRRRRLGGLGLAMMCGAVSDLLSDTEEDDKC", "length": 2222 }, "evidence": [ { "id": "ZFIN:ZDB-GENE-070705-133", "url": "https://alliancegenome.org/gene/ZFIN:ZDB-GENE-070705-133#orthology", "database": "AGR" }, { "id": "FB:FBgn0263111", "url": "https://alliancegenome.org/gene/FB:FBgn0263111#orthology", "database": "AGR" }, { "id": "RGD:2246", "url": "https://alliancegenome.org/gene/RGD:2246#orthology", "database": "AGR" }, { "id": "HGNC:1392", "url": "https://alliancegenome.org/gene/HGNC:1392#orthology", "database": "AGR" }, { "id": "MGI:106217", "url": "https://alliancegenome.org/gene/MGI:106217#orthology", "database": "AGR" } ], "glygen_name": "Rat", "common_name": "Rat" }, { "uniprot_canonical_ac": "Q61290-1", "protein_name": "Voltage-dependent R-type calcium channel subunit alpha-1E", "gene_name": "Cacna1e", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MARFGEAVVVGRPGSGDGDSDQSRNRQGTPVPASGPAAAYKQSKAQRARTMALYNPIPVRQNCFTVNRSLFIFGEDNIVRKYAKKLIDWPPFEYMILATIIANCIVLALEQHLPEDDKTPMSRRLEKTEPYFIGIFCFEAGIKIVALGFIFHKGSYLRNGWNVMDFIVVLSGILATAGTHFNTHVDLRALRAVRVLRPLKLVSGIPSLQIVLKSIMKAMVPLLQIGLLLFFAILMFAIIGLEFYSGKLHRACFMNNSGILEGFDPPHPCGVQGCPAGYECKDWIGPNDGITQFDNILFAVLTVFQCITMEGWTTVLYNTNDALGATWNWLYFIPLIIIGSFFVLNLVLGVLSGEFAKERERVENRRAFMKLRRQQQIERELNGYRAWIDKAEEVMLAEENKNSGTSALEVLRRATIKRSRTEAMTRDSSDEHCVDISSVGTPLARASIKSTKVDGASYFRHKERLLRISIRHMVKSQVFYWIVLSVVALNTACVAIVHHNQPQWLTHLLYYAEFLFLGLFLLEMSLKMYGMGPRLYFHSSFNCFDFGVTVGSIFEVVWAIFRPGTSFGISVLRALRLLRIFKITKYWASLRNLVVSLMSSMKSIISLLFLLFLFIVVFALLGMQLFGGRFNFNDGTPSANFDTFPAAIMTVFQILTGEDWNEVMYNGIRSQGGVSSGMWSAIYFIVLTLFGNYTLLNVFLAIAVDNLANAQELTKDEQEEEEAFNQKHALQKAKEVSPMSAPNMPSIERDRRRRHHMSMWEPRSSHLRERRRRHHMSVWEQRTSQLRRHMQMSSQEALNKEEAPPMNPLNPLNPLSPLNPLNAHPSLYRRPRPIEGLALGLGLEKCEEERISRGGSLKGDIGGLTSALDNQRSPLSLGKREPPWLPRSCHGNCDPIQQEAGGGETVVTFEDRARHRQSQRRSRHRRVRTEGKDSASASRSRSASQERSLDEGVSVEGEKEHEPHSSHRSKEPTIHEEERTQDLRRTNSLMVPRGSGLVGALDEAETPLVQPQPELEVGKDAALTEQEAEGSSEQALLGDVQLDVGRGISQSEPDLSCMTANMDKATTESTSVTVAIPDVDPLVDSTVVNISNKTDGEASPLKEAETKEEEEEVEKKKKQKKEKRETGKAMVPHSSMFIFSTTNPIRRACHYIVNLRYFEMCILLVIAASSIALAAEDPVLTNSERNKVLRYFDYVFTGVFTFEMVIKMIDQGLILQDGSYFRDLWNILDFVVVVGALVAFALANALGTNKGRDIKTIKSLRVLRVLRPLKTIKRLPKLKAVFDCVVTSLKNVFNILIVYKLFMFIFAVIAVQLFKGKFFYCTDSSKDTEKECIGNYVDHEKNKMEVKGREWKRHEFHYDNIIWALLTLFTVSTGEGWPQVLQHSVDVTEEDRGPSRSNRMEMSIFYVVYFVVFPFFFVNIFVALIIITFQEQGDKMMEECSLEKNERACIDFAISAKPLTRYMPQNRHTFQYRVWHFVVSPSFEYTIMAMIALNTVVLMMKYYTAPCTYELALKYLNIAFTMVFSLECVLKVIAFGFLNYFRDTWNIFDFITVIGSITEIILTDSKLVNTSGFNMSFLKLFRAARLIKLLRQGYTIRILLWTFVQSFKALPYVCLLIAMLFFIYAIIGMQVFGNIKLDEESHINRHNNFRSFFGSLMLLFRSATGEAWQEIMLSCLGEKGCEPDTTAPSGQNESERCGTDLAYVYFVSFIFFCSFLMLNLFVAVIMDNFEYLTRDSSILGPHHLDEFVRVWAEYDRAACGRIHYTEMYEMLTLMSPPLGLGKRCPSKVAYKRLVLMNMPVAEDMTVHFTSTLMALIRTALDIKIAKGGADRQQLDSELQKETLAIWPHLSQKMLDLLVPMPKASDLTVGKIYAAMMIMDYYKQSKVKKQRQQLEEQKNAPMFQRMEPSSLPQEIIANAKALPYLQQDPVSGLSGRSGYPSMSPLSPQEIFQLACMDPADDGQFQEQQSLVVTDPSSMRRSFSTIRDKRSNSSWLEEFSMERSSENTYKSRRRSYHSSLRLSAHRLNSDSGHKSDTHRSGGRERGRSKERKHLLSPDVSRCNSEERGTQADWESPERRQSRSPSEGRSQTPNRQGTGSLSESSIPSISDTSTPRRSRRQLPPVPPKPRPLLSYSSLMRHTGGISPPPDGSEGGSPLASQALESNSACLTESSNSLHPQQGQHPSPQHYISEPYLALHEDSHASDCGEEETLTFEAAVATSLGRSNTIGSAPPLRHSWQMPNGHYRRRRWGAWAGMMCGAVSDLLSDTEEDDKC", "length": 2272 }, "evidence": [ { "id": "ZFIN:ZDB-GENE-070705-133", "url": "https://alliancegenome.org/gene/ZFIN:ZDB-GENE-070705-133#orthology", "database": "AGR" }, { "id": "FB:FBgn0263111", "url": "https://alliancegenome.org/gene/FB:FBgn0263111#orthology", "database": "AGR" }, { "id": "RGD:2246", "url": "https://alliancegenome.org/gene/RGD:2246#orthology", "database": "AGR" }, { "id": "HGNC:1392", "url": "https://alliancegenome.org/gene/HGNC:1392#orthology", "database": "AGR" }, { "id": "MGI:106217", "url": "https://alliancegenome.org/gene/MGI:106217#orthology", "database": "AGR" }, { "id": "Q15878", "url": "https://omabrowser.org/oma/group/Q15878/", "database": "OMA" } ], "glygen_name": "Mouse", "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 5, "go_terms": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q15878", "url": "https://www.uniprot.org/uniprotkb/Q15878" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "Q15878", "url": "https://www.uniprot.org/uniprotkb/Q15878" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "Q15878", "url": "https://www.uniprot.org/uniprotkb/Q15878" } ], "pmid": "" }, { "name": "voltage-gated calcium channel complex", "id": "GO:0005891", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005891", "evidence": [ { "database": "UniProtKB", "id": "Q15878", "url": "https://www.uniprot.org/uniprotkb/Q15878" } ], "pmid": "" }, { "name": "monoatomic ion channel complex", "id": "GO:0034702", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034702", "evidence": [ { "database": "UniProtKB", "id": "Q15878", "url": "https://www.uniprot.org/uniprotkb/Q15878" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 2, "go_terms": [ { "name": "chemical synaptic transmission", "id": "GO:0007268", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007268", "evidence": [ { "database": "UniProtKB", "id": "Q15878", "url": "https://www.uniprot.org/uniprotkb/Q15878" } ], "pmid": "" }, { "name": "calcium ion import across plasma membrane", "id": "GO:0098703", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098703", "evidence": [ { "database": "UniProtKB", "id": "Q15878", "url": "https://www.uniprot.org/uniprotkb/Q15878" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 5, "go_terms": [ { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "Q15878", "url": "https://www.uniprot.org/uniprotkb/Q15878" } ], "pmid": "" }, { "name": "voltage-gated calcium channel activity", "id": "GO:0005245", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005245", "evidence": [ { "database": "UniProtKB", "id": "Q15878", "url": "https://www.uniprot.org/uniprotkb/Q15878" } ], "pmid": "" }, { "name": "high voltage-gated calcium channel activity", "id": "GO:0008331", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008331", "evidence": [ { "database": "UniProtKB", "id": "Q15878", "url": "https://www.uniprot.org/uniprotkb/Q15878" } ], "pmid": "" }, { "name": "voltage-gated monoatomic cation channel activity", "id": "GO:0022843", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022843", "evidence": [ { "database": "UniProtKB", "id": "Q15878", "url": "https://www.uniprot.org/uniprotkb/Q15878" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q15878", "url": "https://www.uniprot.org/uniprotkb/Q15878" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 1090, "end_pos": 1092, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1566, "end_pos": 1568, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1571, "end_pos": 1573, "annotation": "n_glycosylation_sequon" }, { "start_pos": 2030, "end_pos": 2032, "annotation": "n_glycosylation_sequon" }, { "start_pos": 254, "end_pos": 256, "annotation": "n_glycosylation_sequon" }, { "start_pos": 66, "end_pos": 68, "annotation": "n_glycosylation_sequon" }, { "start_pos": 691, "end_pos": 693, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "29671", "name": "", "equation": "Ca(2+)(in) = Ca(2+)(out)", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q9BX84-1", "Q96QT4-1" ], "evidence": [ { "id": "29671", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/29671" } ] } ], "reaction_participants": [], "reaction_enzymes": [ { "uniprot_ac": "Q96QT4", "gene_name": "TRPM7", "activity": [ { "ec_number": "2.7.11.1", "activity": "L-seryl-[protein] + ATP = O-phospho-L-seryl-[protein] + ADP + H(+).", "evidence": [ { "id": "Q96QT4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q96QT4" } ] }, { "ec_number": "2.7.11.1", "activity": "", "evidence": [ { "id": "Q96QT4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q96QT4" } ] } ] }, { "uniprot_ac": "Q9BX84", "gene_name": "TRPM6", "activity": [ { "ec_number": "2.7.11.1", "activity": "L-seryl-[protein] + ATP = O-phospho-L-seryl-[protein] + ADP + H(+).", "evidence": [ { "id": "Q9BX84", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9BX84" } ] }, { "ec_number": "2.7.11.1", "activity": "", "evidence": [ { "id": "Q9BX84", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9BX84" } ] } ] } ], "biomarkers": [], "structures": [ { "pdb_id": "AF-Q15878-F1", "pdb_chain": "global", "start_pos": 1, "end_pos": 2313, "overlap": "1.0", "method": "AlphaFold", "type": "alphafold", "resolution": -1.0, "url": "https://data.glygen.org/ln2downloads/pdb/current/AF-Q15878-F1.pdb", "url_external": "https://alphafold.ebi.ac.uk/entry/Q15878" }, { "pdb_id": "3bxl", "pdb_chain": "b", "start_pos": 1867, "end_pos": 1887, "overlap": "0.01", "method": "X-Ray_Crystallography", "type": "experimental", "resolution": -1.0, "url": "https://data.glygen.org/ln2downloads/pdb/current/3bxl.pdb", "url_external": "https://www.rcsb.org/structure/3bxl" } ], "lectin_list": [], "domain_list": [ { "evidence": [ { "id": "Q15878", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q15878" }, { "id": "PRU00448", "database": "PROSITE", "url": "https://prosite.expasy.org/PRU00448" }, { "id": "F8W9Z1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/F8W9Z1" }, { "id": "PS50222", "database": "PROSITE", "url": "https://prosite.expasy.org/PS50222" } ], "ann_type": "Domain_Extent_Annotation", "uniprotkb_annotation": "EF-hand", "eco_id": "ECO_0000255", "start_pos": 1739, "end_pos": 1774, "start_aa": "His", "end_aa": "Pro", "glycosite_overlap": "" }, { "evidence": [ { "id": "A0A8V8TPE9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/A0A8V8TPE9" }, { "id": "PF00520", "database": "Pfam", "url": "https://www.ebi.ac.uk/interpro/entry/pfam/PF00520" }, { "id": "E9PIE8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/E9PIE8" } ], "ann_type": "Domain_Extent_Annotation", "uniprotkb_annotation": "Ion transport", "eco_id": "ECO_0000259", "start_pos": 360, "end_pos": 638, "start_aa": "Arg", "end_aa": "Ala", "glycosite_overlap": "" }, { "evidence": [ { "id": "A0A2R8Y7W1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/A0A2R8Y7W1" }, { "id": "PF16905", "database": "Pfam", "url": "https://www.ebi.ac.uk/interpro/entry/pfam/PF16905" } ], "ann_type": "Domain_Extent_Annotation", "uniprotkb_annotation": "Voltage-dependent L-type calcium channel IQ-associated", "eco_id": "ECO_0000259", "start_pos": 30, "end_pos": 83, "start_aa": "Val", "end_aa": "Lys", "glycosite_overlap": "" } ], "binding_sites": [ { "evidence": [ { "id": "F8W9Z1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/F8W9Z1#function" }, { "id": "F8W9Z1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/F8W9Z1" }, { "id": "PIRSR602077-1", "database": "PIR Site Rule", "url": "https://proteininformationresource.org/cgi-bin/pirrule?id=PIRSR602077-1" } ], "binding_site_uniprot": 1353, "amino_acid": "Phe", "chebi_lig_id": "CHEBI_29108", "ligand": "Ca(2+)", "ligand_label": "", "uniprotkb_ligand_comment": "", "eco_id": "ECO_0000256", "start_pos": 1353, "end_pos": 1353, "start_aa": "Phe", "end_aa": "Phe", "glycosite_overlap": "" }, { "evidence": [ { "id": "Q15878", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q15878#function" }, { "id": "Q15878", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q15878" } ], "binding_site_uniprot": 1752, "amino_acid": "Asp", "chebi_lig_id": "CHEBI_29108", "ligand": "Ca(2+)", "ligand_label": "2", "uniprotkb_ligand_comment": "", "eco_id": "ECO_0000305", "start_pos": 1752, "end_pos": 1752, "start_aa": "Asp", "end_aa": "Asp", "glycosite_overlap": "" }, { "evidence": [ { "id": "Q15878", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q15878#function" }, { "id": "Q15878", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q15878" } ], "binding_site_uniprot": 1758, "amino_acid": "Arg", "chebi_lig_id": "CHEBI_29108", "ligand": "Ca(2+)", "ligand_label": "2", "uniprotkb_ligand_comment": "", "eco_id": "ECO_0000305", "start_pos": 1758, "end_pos": 1758, "start_aa": "Arg", "end_aa": "Arg", "glycosite_overlap": "" }, { "evidence": [ { "id": "Q15878", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q15878#function" }, { "id": "Q15878", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q15878" } ], "binding_site_uniprot": 1763, "amino_acid": "Glu", "chebi_lig_id": "CHEBI_29108", "ligand": "Ca(2+)", "ligand_label": "2", "uniprotkb_ligand_comment": "", "eco_id": "ECO_0000305", "start_pos": 1763, "end_pos": 1763, "start_aa": "Glu", "end_aa": "Glu", "glycosite_overlap": "" }, { "evidence": [ { "id": "F8W9Z1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/F8W9Z1#function" }, { "id": "F8W9Z1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/F8W9Z1" }, { "id": "PIRSR602077-1", "database": "PIR Site Rule", "url": "https://proteininformationresource.org/cgi-bin/pirrule?id=PIRSR602077-1" } ], "binding_site_uniprot": 309, "amino_acid": "Glu", "chebi_lig_id": "CHEBI_29108", "ligand": "Ca(2+)", "ligand_label": "", "uniprotkb_ligand_comment": "", "eco_id": "ECO_0000256", "start_pos": 309, "end_pos": 309, "start_aa": "Glu", "end_aa": "Glu", "glycosite_overlap": "" }, { "evidence": [ { "id": "Q15878", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q15878#function" }, { "id": "Q15878", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q15878" } ], "binding_site_uniprot": 426, "amino_acid": "Asp", "chebi_lig_id": "CHEBI_29108", "ligand": "Ca(2+)", "ligand_label": "1", "uniprotkb_ligand_comment": "", "eco_id": "ECO_0000305", "start_pos": 426, "end_pos": 426, "start_aa": "Asp", "end_aa": "Asp", "glycosite_overlap": "" }, { "evidence": [ { "id": "Q15878", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q15878#function" }, { "id": "Q15878", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q15878" } ], "binding_site_uniprot": 428, "amino_acid": "Ser", "chebi_lig_id": "CHEBI_29108", "ligand": "Ca(2+)", "ligand_label": "1", "uniprotkb_ligand_comment": "", "eco_id": "ECO_0000305", "start_pos": 428, "end_pos": 428, "start_aa": "Ser", "end_aa": "Ser", "glycosite_overlap": "" }, { "evidence": [ { "id": "Q15878", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q15878#function" }, { "id": "Q15878", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q15878" } ], "binding_site_uniprot": 430, "amino_acid": "Glu", "chebi_lig_id": "CHEBI_29108", "ligand": "Ca(2+)", "ligand_label": "1", "uniprotkb_ligand_comment": "", "eco_id": "ECO_0000305", "start_pos": 430, "end_pos": 430, "start_aa": "Glu", "end_aa": "Glu", "glycosite_overlap": "" }, { "evidence": [ { "id": "Q15878", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q15878#function" }, { "id": "Q15878", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q15878" } ], "binding_site_uniprot": 432, "amino_acid": "Cys", "chebi_lig_id": "CHEBI_29108", "ligand": "Ca(2+)", "ligand_label": "1", "uniprotkb_ligand_comment": "", "eco_id": "ECO_0000305", "start_pos": 432, "end_pos": 432, "start_aa": "Cys", "end_aa": "Cys", "glycosite_overlap": "" }, { "evidence": [ { "id": "E9PIE8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/E9PIE8#function" }, { "id": "E9PIE8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/E9PIE8" }, { "id": "PIRSR602077-1", "database": "PIR Site Rule", "url": "https://proteininformationresource.org/cgi-bin/pirrule?id=PIRSR602077-1" } ], "binding_site_uniprot": 454, "amino_acid": "Gly", "chebi_lig_id": "CHEBI_29108", "ligand": "Ca(2+)", "ligand_label": "", "uniprotkb_ligand_comment": "", "eco_id": "ECO_0000256", "start_pos": 454, "end_pos": 454, "start_aa": "Gly", "end_aa": "Gly", "glycosite_overlap": "" }, { "evidence": [ { "id": "F8W9Z1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/F8W9Z1#function" }, { "id": "F8W9Z1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/F8W9Z1" }, { "id": "PIRSR602077-1", "database": "PIR Site Rule", "url": "https://proteininformationresource.org/cgi-bin/pirrule?id=PIRSR602077-1" } ], "binding_site_uniprot": 657, "amino_acid": "Glu", "chebi_lig_id": "CHEBI_29108", "ligand": "Ca(2+)", "ligand_label": "", "uniprotkb_ligand_comment": "", "eco_id": "ECO_0000256", "start_pos": 657, "end_pos": 657, "start_aa": "Glu", "end_aa": "Glu", "glycosite_overlap": "" } ], "synthesized_glycans": [], "enzyme_annotation": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.agr", "label": "AGR Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "sequence_features": { "n_linked_sites": [ 254, 1566, 1571, 2030 ], "o_linked_sites": [ 1180 ], "snv_sites": [ 2, 5, 10, 11, 12, 13, 14, 15, 16, 18, 19, 21, 22, 25, 29, 30, 32, 33, 36, 37, 38, 42, 46, 47, 48, 49, 50, 55, 62, 63, 65, 68, 70, 71, 72, 73, 74, 75, 78, 79, 85, 86, 87, 89, 90, 94, 96, 97, 105, 108, 109, 110, 112, 113, 115, 116, 119, 120, 121, 122, 125, 128, 129, 131, 133, 136, 138, 139, 142, 145, 146, 147, 148, 149, 150, 151, 157, 160, 163, 165, 167, 169, 170, 173, 174, 176, 177, 180, 183, 184, 189, 190, 191, 193, 196, 200, 201, 202, 203, 205, 206, 208, 217, 218, 219, 221, 223, 230, 231, 235, 239, 240, 241, 245, 246, 249, 250, 253, 254, 255, 261, 263, 264, 265, 266, 267, 271, 273, 276, 278, 279, 280, 282, 283, 284, 285, 286, 290, 291, 292, 297, 298, 301, 303, 305, 308, 309, 310, 312, 316, 319, 323, 324, 326, 328, 329, 330, 331, 333, 334, 338, 339, 340, 341, 343, 348, 351, 352, 353, 359, 361, 364, 365, 366, 367, 368, 372, 374, 375, 377, 378, 384, 386, 390, 394, 396, 397, 398, 401, 402, 403, 404, 405, 406, 409, 411, 413, 416, 418, 419, 420, 424, 425, 431, 436, 438, 439, 441, 442, 443, 444, 446, 447, 452, 454, 455, 456, 459, 461, 462, 463, 464, 466, 468, 470, 473, 474, 480, 487, 489, 491, 492, 493, 497, 498, 499, 501, 502, 503, 507, 511, 512, 513, 514, 515, 517, 519, 520, 521, 524, 525, 531, 532, 533, 534, 537, 539, 544, 545, 547, 554, 555, 556, 558, 560, 561, 562, 563, 564, 565, 566, 567, 572, 575, 578, 581, 582, 583, 587, 588, 590, 593, 595, 597, 600, 602, 605, 609, 610, 614, 615, 618, 619, 620, 621, 626, 627, 628, 629, 630, 636, 637, 639, 642, 644, 646, 652, 653, 654, 655, 656, 661, 663, 666, 668, 676, 677, 678, 685, 690, 693, 694, 697, 698, 701, 702, 703, 707, 709, 710, 719, 720, 725, 729, 730, 732, 733, 735, 741, 742, 744, 745, 747, 748, 749, 750, 757, 759, 760, 761, 762, 765, 766, 769, 771, 772, 773, 778, 781, 788, 792, 793, 796, 802, 803, 805, 807, 810, 813, 828, 829, 831, 833, 838, 839, 841, 846, 847, 848, 849, 851, 852, 855, 857, 858, 859, 860, 862, 864, 866, 868, 869, 870, 871, 875, 876, 878, 879, 881, 882, 883, 884, 885, 893, 894, 897, 898, 901, 902, 904, 905, 906, 909, 911, 916, 918, 919, 920, 922, 924, 925, 926, 932, 933, 934, 935, 938, 939, 941, 943, 944, 946, 950, 951, 953, 955, 956, 957, 959, 961, 963, 967, 970, 971, 974, 975, 977, 978, 982, 983, 987, 988, 991, 992, 993, 994, 997, 998, 999, 1002, 1004, 1005, 1009, 1010, 1011, 1012, 1014, 1016, 1017, 1018, 1019, 1022, 1023, 1024, 1026, 1027, 1028, 1041, 1042, 1044, 1047, 1050, 1051, 1052, 1053, 1055, 1057, 1060, 1061, 1062, 1066, 1070, 1072, 1075, 1076, 1077, 1079, 1080, 1083, 1084, 1085, 1088, 1089, 1091, 1092, 1093, 1094, 1095, 1098, 1100, 1101, 1102, 1103, 1105, 1106, 1108, 1109, 1110, 1112, 1113, 1117, 1119, 1120, 1121, 1122, 1123, 1126, 1127, 1128, 1129, 1130, 1133, 1134, 1135, 1139, 1141, 1143, 1144, 1145, 1146, 1147, 1150, 1153, 1155, 1156, 1158, 1160, 1163, 1165, 1169, 1171, 1173, 1175, 1176, 1177, 1178, 1180, 1181, 1182, 1190, 1191, 1194, 1195, 1196, 1200, 1204, 1205, 1206, 1207, 1208, 1214, 1215, 1216, 1219, 1220, 1222, 1224, 1226, 1229, 1231, 1236, 1238, 1239, 1240, 1242, 1243, 1244, 1246, 1248, 1249, 1250, 1251, 1252, 1253, 1254, 1256, 1257, 1258, 1259, 1261, 1262, 1263, 1268, 1270, 1271, 1273, 1277, 1278, 1280, 1281, 1282, 1283, 1286, 1290, 1293, 1296, 1298, 1300, 1304, 1307, 1308, 1314, 1315, 1319, 1320, 1322, 1324, 1326, 1328, 1330, 1332, 1333, 1336, 1337, 1341, 1344, 1345, 1346, 1347, 1348, 1350, 1351, 1352, 1354, 1356, 1357, 1359, 1360, 1361, 1365, 1367, 1368, 1371, 1372, 1373, 1376, 1377, 1378, 1379, 1382, 1384, 1387, 1389, 1390, 1393, 1396, 1398, 1400, 1401, 1403, 1406, 1409, 1411, 1413, 1415, 1418, 1419, 1422, 1423, 1428, 1429, 1430, 1431, 1432, 1434, 1438, 1440, 1443, 1445, 1447, 1448, 1450, 1452, 1453, 1456, 1458, 1461, 1464, 1469, 1470, 1471, 1475, 1478, 1482, 1486, 1489, 1495, 1497, 1499, 1501, 1503, 1504, 1505, 1506, 1507, 1510, 1515, 1516, 1520, 1521, 1522, 1523, 1524, 1528, 1529, 1531, 1536, 1539, 1541, 1542, 1543, 1544, 1547, 1549, 1550, 1552, 1553, 1556, 1557, 1561, 1562, 1565, 1566, 1568, 1569, 1572, 1579, 1580, 1582, 1585, 1586, 1587, 1588, 1589, 1590, 1594, 1596, 1597, 1598, 1599, 1604, 1605, 1607, 1608, 1610, 1619, 1622, 1623, 1625, 1627, 1630, 1633, 1635, 1636, 1637, 1642, 1646, 1647, 1649, 1650, 1651, 1652, 1654, 1657, 1658, 1661, 1662, 1667, 1668, 1671, 1674, 1675, 1676, 1681, 1685, 1687, 1688, 1689, 1690, 1691, 1692, 1693, 1695, 1697, 1698, 1699, 1701, 1702, 1703, 1705, 1706, 1707, 1711, 1715, 1716, 1717, 1718, 1720, 1721, 1723, 1724, 1725, 1727, 1728, 1729, 1731, 1732, 1736, 1737, 1740, 1742, 1743, 1746, 1747, 1748, 1749, 1750, 1753, 1754, 1756, 1758, 1763, 1766, 1771, 1774, 1776, 1778, 1779, 1780, 1783, 1789, 1793, 1798, 1799, 1800, 1802, 1805, 1807, 1810, 1814, 1816, 1824, 1829, 1830, 1832, 1835, 1839, 1840, 1844, 1845, 1852, 1854, 1857, 1861, 1865, 1872, 1873, 1875, 1880, 1882, 1887, 1889, 1891, 1892, 1893, 1896, 1897, 1899, 1900, 1901, 1903, 1905, 1908, 1909, 1910, 1915, 1922, 1924, 1925, 1926, 1930, 1931, 1932, 1934, 1935, 1937, 1943, 1944, 1945, 1947, 1950, 1951, 1953, 1955, 1956, 1957, 1958, 1959, 1961, 1962, 1965, 1966, 1968, 1970, 1971, 1972, 1975, 1976, 1982, 1983, 1985, 1986, 1987, 1988, 1993, 1994, 1999, 2002, 2003, 2004, 2007, 2008, 2012, 2016, 2019, 2022, 2023, 2025, 2027, 2028, 2029, 2030, 2031, 2032, 2035, 2036, 2039, 2040, 2041, 2043, 2044, 2047, 2049, 2050, 2051, 2052, 2053, 2055, 2056, 2057, 2059, 2061, 2063, 2064, 2067, 2068, 2070, 2072, 2077, 2081, 2083, 2084, 2085, 2087, 2089, 2090, 2092, 2093, 2094, 2095, 2098, 2099, 2104, 2106, 2109, 2113, 2116, 2117, 2118, 2119, 2120, 2122, 2123, 2125, 2126, 2127, 2128, 2129, 2130, 2132, 2134, 2135, 2136, 2144, 2145, 2147, 2148, 2149, 2150, 2151, 2152, 2153, 2154, 2156, 2157, 2158, 2159, 2160, 2161, 2162, 2163, 2164, 2165, 2167, 2168, 2169, 2170, 2171, 2172, 2173, 2175, 2177, 2178, 2179, 2180, 2181, 2185, 2187, 2188, 2190, 2191, 2193, 2195, 2196, 2197, 2198, 2199, 2200, 2204, 2206, 2208, 2210, 2212, 2213, 2214, 2215, 2217, 2218, 2221, 2223, 2224, 2225, 2226, 2229, 2230, 2231, 2233, 2236, 2237, 2239, 2240, 2241, 2242, 2246, 2247, 2252, 2253, 2259, 2260, 2262, 2263, 2264, 2267, 2270, 2271, 2272, 2273, 2274, 2278, 2281, 2283, 2284, 2285, 2286, 2287, 2288, 2289, 2290, 2292, 2293, 2300, 2301, 2303, 2305, 2307, 2308, 2309, 2310 ], "sites_with_glycoeffect": [ 2032, 1004, 1022, 1047, 1052, 1057, 1060, 1083, 1084, 1089, 1092, 1092, 1123, 1153, 1153, 1178, 1178, 1180, 1191, 1191, 1194, 1194, 1214, 1216, 121, 1253, 1256, 1256, 1256, 1268, 1296, 1319, 1320, 1322, 1322, 1333, 1367, 1367, 1400, 1403, 1406, 1438, 1452, 1482, 1499, 14, 1501, 1505, 1506, 1516, 1522, 1541, 1549, 1549, 1549, 1553, 1562, 1566, 1566, 1568, 1599, 160, 1633, 1652, 1661, 1671, 1691, 1693, 1693, 1702, 1705, 170, 1711, 1728, 1732, 1779, 1783, 1800, 1802, 1807, 1839, 1839, 1861, 1897, 1905, 1930, 1935, 1937, 1965, 1965, 1975, 1982, 1987, 1999, 19, 2012, 2016, 2022, 2023, 2027, 2029, 202, 202, 2030, 2030, 2031, 2043, 2047, 2049, 2053, 2056, 2056, 2057, 2061, 2067, 206, 2094, 2098, 2113, 2113, 2119, 2123, 2127, 2127, 2129, 2135, 2145, 2145, 2145, 2147, 2148, 2150, 2151, 2171, 2171, 2172, 2173, 2181, 2187, 2193, 2193, 2196, 2197, 2204, 2206, 2208, 2210, 2213, 2213, 2214, 2221, 2223, 2229, 2239, 2240, 2259, 2259, 2263, 2283, 22, 22, 2305, 2307, 2307, 2307, 254, 290, 290, 312, 316, 319, 330, 339, 33, 351, 401, 404, 405, 416, 418, 420, 424, 42, 436, 446, 456, 456, 468, 524, 537, 539, 564, 565, 583, 583, 588, 595, 595, 602, 605, 637, 63, 642, 653, 655, 68, 693, 698, 707, 745, 757, 757, 792, 793, 851, 855, 862, 864, 875, 933, 934, 935, 935, 939, 941, 943, 967, 967, 993 ], "glycation_sites": [], "phosphorylation_sites": [ 14, 19, 427, 440, 736, 745, 793, 815, 855, 947, 1097, 2094, 2113 ], "sequon_annotation_sites": [ { "start_pos": 1090, "end_pos": 1092 }, { "start_pos": 1566, "end_pos": 1568 }, { "start_pos": 1571, "end_pos": 1573 }, { "start_pos": 2030, "end_pos": 2032 }, { "start_pos": 254, "end_pos": 256 }, { "start_pos": 66, "end_pos": 68 }, { "start_pos": 691, "end_pos": 693 } ] }, "class_list": [], "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 5 }, { "field": "total_sites", "count": 5 }, { "field": "n_linked_sites", "count": 4 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 1 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 5 }, { "field": "exact_o_linked_sites", "count": 1 }, { "field": "exact_o_linked_glycan_sites", "count": 1 }, { "field": "exact_o_linked_glycans", "count": 1 }, { "field": "exact_n_linked_sites", "count": 4 }, { "field": "exact_n_linked_glycan_sites", "count": 1 }, { "field": "exact_n_linked_glycans", "count": 1 }, { "field": "fuzzy_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 2 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 1 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 2 }, { "field": "exact_o_linked_sites", "count": 1 }, { "field": "exact_o_linked_glycan_sites", "count": 1 }, { "field": "exact_o_linked_glycans", "count": 1 }, { "field": "exact_n_linked_sites", "count": 1 }, { "field": "exact_n_linked_glycan_sites", "count": 1 }, { "field": "exact_n_linked_glycans", "count": 1 }, { "field": "fuzzy_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 3 }, { "field": "total_sites", "count": 3 }, { "field": "n_linked_sites", "count": 3 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 3 }, { "field": "exact_n_linked_sites", "count": 3 }, { "field": "fuzzy_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 13 }, { "field": "total_sites", "count": 13 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1493 }, { "field": "total_sites", "count": 1118 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1471 }, { "field": "total_sites", "count": 1099 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 22 }, { "field": "total_sites", "count": 22 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 119 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ], "tool_support": { "graph_view": "yes" } } ]