{ "uniprot_canonical_ac": "O00305-1", "uniprot_ac": "O00305", "uniprot_id": "CACB4_HUMAN", "mass": { "chemical_mass": 58169.0, "monoisotopic_mass": 58169.0 }, "refseq": { "ac": "NP_000717", "name": "voltage-dependent L-type calcium channel subunit beta-4 isoform b", "summary": "This gene encodes a member of the beta subunit family of voltage-dependent calcium channel complex proteins. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. Various versions of each of these subunits exist, either expressed from similar genes or the result of alternative splicing. The protein encoded by this locus plays an important role in calcium channel function by modulating G protein inhibition, increasing peak calcium current, controlling the alpha-1 subunit membrane targeting and shifting the voltage dependence of activation and inactivation. Certain mutations in this gene have been associated with idiopathic generalized epilepsy (IGE), juvenile myoclonic epilepsy (JME), and episodic ataxia, type 5. [provided by RefSeq, Aug 2016].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000717" }, "gene_names": [ { "name": "CACNB4", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O00305", "id": "O00305" }, { "name": "CAB4; CACNLB4; EA5; EIG9; EJM; EJM4; EJM6", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000717", "id": "NP_000717" }, { "name": "CACNB4", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000717", "id": "NP_000717" }, { "name": "CACNLB4", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O00305", "id": "O00305" } ], "protein_names": [ { "name": "Voltage-dependent L-type calcium channel subunit beta-4", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O00305" }, { "name": "CAB4", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00305" }, { "name": "Calcium channel voltage-dependent subunit beta 4", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00305" }, { "name": "dihydropyridine-sensitive L-type, calcium channel beta-4 subunit; voltage-dependent L-type calcium channel subunit beta-4; calcium channel voltage-dependent subunit beta 4", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000717", "id": "NP_000717" }, { "name": "voltage-dependent L-type calcium channel subunit beta-4 isoform b", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000717", "id": "NP_000717" } ], "function": [ { "annotation": "The beta subunit of voltage-dependent calcium channels contributes to the function of the calcium channel by increasing peak calcium current, shifting the voltage dependencies of activation and inactivation, modulating G protein inhibition and controlling the alpha-1 subunit membrane targeting.", "evidence": [ { "database": "UniProtKB", "id": "O00305", "url": "https://www.uniprot.org/uniprot/O00305#function" }, { "database": "PubMed", "id": "11880487", "url": "https://glygen.org/publication/PubMed/11880487" } ] }, { "annotation": "The homozygous CACNB4 p.(Leu126Pro) variant underlies the severe neurological phenotype in the two siblings. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000717", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000717" }, { "database": "PubMed", "id": "32176688", "url": "https://glygen.org/publication/PubMed/32176688" } ] }, { "annotation": "This gene encodes a member of the beta subunit family of voltage-dependent calcium channel complex proteins. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. Various versions of each of these subunits exist, either expressed from similar genes or the result of alternative splicing. The protein encoded by this locus plays an important role in calcium channel function by modulating G protein inhibition, increasing peak calcium current, controlling the alpha-1 subunit membrane targeting and shifting the voltage dependence of activation and inactivation. Certain mutations in this gene have been associated with idiopathic generalized epilepsy (IGE), juvenile myoclonic epilepsy (JME), and episodic ataxia, type 5. [provided by RefSeq, Aug 2016].", "evidence": [ { "database": "RefSeq", "id": "NP_000717", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000717" } ] } ], "disease": [ { "disease_id": "DOID:0050993", "recommended_name": { "id": "DOID:0050993", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050993", "name": "episodic ataxia type 5", "description": "An episodic ataxia that is characterized by dysarthria and vertigo, develops in early childhood, and has_material_basis_in autosomal dominant inheritance of mutation in the CACNB4 gene." }, "synonyms": [ { "id": "MONDO:0013464", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013464", "name": "episodic ataxia type 5", "description": "Episodic ataxia type 5 (EA5) is an extremely rare form of Hereditary episodic ataxia characterized by recurrent episodes of vertigo and ataxia lasting several hours." }, { "id": "MONDO:0013464", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013464", "name": "CACNB4 hereditary episodic ataxia", "description": "" }, { "id": "MONDO:0013464", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013464", "name": "hereditary episodic ataxia caused by mutation in CACNB4", "description": "" }, { "id": "MONDO:0013464", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013464", "name": "EA5", "description": "" }, { "id": "MONDO:0013464", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013464", "name": "episodic ataxia, type 5", "description": "" }, { "id": "MIM:613855", "resource": "MIM", "url": "https://www.omim.org/entry/613855", "name": "Episodic ataxia 5", "description": "Episodic ataxia 5" } ], "evidence": [ { "id": "613855", "database": "MIM", "url": "https://www.omim.org/entry/613855" } ] }, { "disease_id": "DOID:0111323", "recommended_name": { "id": "DOID:0111323", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111323", "name": "idiopathic generalized epilepsy 9", "description": "An idiopathic generalized epilepsy that has_material_basis_in heterozygous mutation in the CACNB4 on chromosome 2q23.3." }, "synonyms": [ { "id": "DOID:0111323", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111323", "name": "EIG9", "description": "" }, { "id": "MONDO:0011892", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011892", "name": "epilepsy, idiopathic generalized, susceptibility to, 9", "description": "Any generalized epilepsy in which the cause of the disease is a mutation in the CACNB4 gene." }, { "id": "MONDO:0011892", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011892", "name": "CACNB4 generalised epilepsy", "description": "" }, { "id": "MONDO:0011892", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011892", "name": "CACNB4 generalized epilepsy", "description": "" }, { "id": "MONDO:0011892", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011892", "name": "epilepsy, idiopathic generalized, susceptibility to, 9", "description": "" }, { "id": "MONDO:0011892", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011892", "name": "epilepsy, idiopathic generalized, susceptibility to, type 9", "description": "" }, { "id": "MONDO:0011892", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011892", "name": "generalised epilepsy caused by mutation in CACNB4", "description": "" }, { "id": "MONDO:0011892", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011892", "name": "generalized epilepsy caused by mutation in CACNB4", "description": "" }, { "id": "MONDO:0011892", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011892", "name": "EIG9", "description": "" }, { "id": "MONDO:0011892", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011892", "name": "epilepsy, juvenile myoclonic, susceptibility to, 6", "description": "" }, { "id": "MONDO:0011892", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011892", "name": "susceptibility to idiopathic generalised epilepsy 9", "description": "" }, { "id": "MONDO:0011892", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011892", "name": "susceptibility to idiopathic generalized epilepsy 9", "description": "" }, { "id": "MIM:607682", "resource": "MIM", "url": "https://www.omim.org/entry/607682", "name": "Epilepsy, idiopathic generalized 9", "description": "Epilepsy, idiopathic generalized 9" } ], "evidence": [ { "id": "607682", "database": "MIM", "url": "https://www.omim.org/entry/607682" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "62.42", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000182389", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000182389" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "56.24", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000182389", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000182389" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "58.39", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000182389", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000182389" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "71.27", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000182389", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000182389" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "60.87", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000182389", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000182389" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "64.11", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000182389", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000182389" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "59.73", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000182389", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000182389" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "62.92", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000182389", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000182389" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "60.82", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000182389", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000182389" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "57.99", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000182389", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000182389" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "53.88", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000182389", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000182389" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "70.93", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000182389", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000182389" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "65.7", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000182389", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000182389" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O00305", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00305" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, 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"https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O00305", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00305" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O00305", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00305" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": 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"https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "O00305", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00305" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "O00305", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00305" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine 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"resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "O00305", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00305" } ], "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "No", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O00305", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00305" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "O00305", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00305" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "O00305", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00305" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00305" } ], "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ] }, { "significant": "No", "trend": "down", "name": "Esophageal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "O00305", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00305" } ], "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": 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"categories": [ "Protein" ] }, { "id": "C9J224-1", "url": "https://www.uniprot.org/uniprot/C9J224-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E7DBM8", "url": "https://www.uniprot.org/uniprot/E7DBM8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E7DBM8-1", "url": "https://www.uniprot.org/uniprot/E7DBM8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E7EN11", "url": "https://www.uniprot.org/uniprot/E7EN11", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E7EN11-1", "url": "https://www.uniprot.org/uniprot/E7EN11-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0Y476", "url": "https://www.uniprot.org/uniprot/H0Y476", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0Y476-1", "url": "https://www.uniprot.org/uniprot/H0Y476-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O00305", "url": "https://www.uniprot.org/uniprot/O00305", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O00305-1", "url": "https://www.uniprot.org/uniprot/O00305-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O00305-2", "url": "https://www.uniprot.org/uniprot/O00305-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O00305-3", "url": "https://www.uniprot.org/uniprot/O00305-3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O00305-4", "url": "https://www.uniprot.org/uniprot/O00305-4", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MSSSSYAKNGTADGPHSPTSQVARGTTTRRSRLKRSDGSTTSTSFILRQGSADSYTSRPSDSDVSLEEDREAIRQEREQQAAIQLERAKSKPVAFAVKTNVSYCGALDEDVPVPSTAISFDAKDFLHIKEKYNNDWWIGRLVKEGCEIGFIPSPLRLENIRIQQEQKRGRFHGGKSSGNSSSSLGEMVSGTFRATPTSTAKQKQKVTEHIPPYDVVPSMRPVVLVGPSLKGYEVTDMMQKALFDFLKHRFDGRISITRVTADISLAKRSVLNNPSKRAIIERSNTRSSLAEVQSEIERIFELARSLQLVVLDADTINHPAQLIKTSLAPIIVHVKVSSPKVLQRLIKSRGKSQSKHLNVQLVAADKLAQCPPEMFDVILDENQLEDACEHLGEYLEAYWRATHTTSSTPMTPLLGRNLGSTALSPYPTAISGLQSQRMRHSNHSTENSPIERRSLMTSDENYHNERARKSRNRLSSSSQHSRDHYPLVEEDYPDSYQDTYKPHRNRGSPGGYSHDSRHRL", "length": 520, "header": "sp|O00305-1|CACB4_HUMAN Isoform 1 of Voltage-dependent L-type calcium channel subunit beta-4 OS=Homo sapiens OX=9606 GN=CACNB4 PE=1 SV=2 CANONICAL=O00305-1" }, "isoforms": [ { "isoform_ac": "A0A1B0GTA9-1", "url": "", "sequence": { "sequence": "MYDNLYLHGIEDSEAGSADSYTSRPSDSDVSLEEDREAIRQEREQQAAIQLERAKKYNNDWWIGRLVKEGCEIGFIPSPLRLENIRIQQEQKRGRFHGGKSSGNSSSSLGEMVSGTFRATPTSTAKQKQKVTEHIPPYDVVPSMRPVVLVGPSLKGYEVTDMMQKALFDFLKHRFDGRISITRVTADISLAKRSVLNNPSKRAIIERSNTRSSLAEVQSEIERIFELARSLQLVVLDADTINHPAQLIKTSLAPIIVHVKVSSPKVHVFFYQVLQRLIKSRGKSQSKHLNVQLVAADKLAQCPPEMFDVILDENQLEDACEHLGEYLEAYWRATHTTSSTPMTPLLGRNLGSTALSPYPTAISGLQSQRMRHSNHSTENSPIERRSLMTSDENYHNERARKSRNRLSSSSQHSRDHYPLVEEDYPDSYQDTYKPHRNRGSPGGYSHDSRHRL", "length": 452, "header": "tr|A0A1B0GTA9-1|A0A1B0GTA9_HUMAN Computationally mapped isoform of Calcium voltage-gated channel auxiliary subunit beta 4 OS=Homo sapiens OX=9606 GN=CACNB4 PE=1 SV=1 CANONICAL=O00305-1" }, "locus": { "chromosome": "2", "start_pos": 151973713, "end_pos": 151839122, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000636350.1", "url": "https://www.ensembl.org/id/ENST00000636350.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000489621.1", "url": "https://www.ensembl.org/id/ENSP00000489621.1" } ] } }, { "isoform_ac": "A0A1B0GTF6-1", "url": "", "sequence": { "sequence": "MYDNLYLHGIEDSEAGSADSYTSRPSDSDVSLEEDREAIRQEREQQAAIQLERAKKYNNDWWIGRLVKEGCEIGFIPSPLRLENIRIQQEQKRGRFHGGKSSGNSSSSLGEMVSGTFRATPTSTAKQKQKVTEHIPPYDVVPSMRPVVLVGPSLKGYEVTDMMQKALFDFLKHRFDGRISITRVTADISLAKRSVLNNPSKRAIIERSNTRSSLAEVQSEIERIFELARSLQLVVLDADTINHPAQLIKTSLAPIIVHVKVSSPKVLQRLIKSRGKSQSKHLNVQLVAADKLAQCPPEMFDVILDENQLEDACEHLGEYLEAYWRATHTTSSTPMTPLLGRNLGSTALSPYPTAISGLQSQRMRHSNHSTENSPIERRSLMTSDENYHNERARKSRNRLSSSSQHSRDHYPLVEEDYPDSYQDTYKPHRNRGSPGGYSHDSRHRL", "length": 445, "header": "tr|A0A1B0GTF6-1|A0A1B0GTF6_HUMAN Computationally mapped isoform of Calcium voltage-gated channel auxiliary subunit beta 4 OS=Homo sapiens OX=9606 GN=CACNB4 PE=1 SV=1 CANONICAL=O00305-1" }, "locus": { "chromosome": "2", "start_pos": 151973713, "end_pos": 151839122, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000637418.1", "url": "https://www.ensembl.org/id/ENST00000637418.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000489679.1", "url": "https://www.ensembl.org/id/ENSP00000489679.1" } ] } }, { "isoform_ac": "A0A1B0GTH0-1", "url": "", "sequence": { "sequence": "MYDNLYLHGIEDSEAGSADSYTSRPSDSDVSLEEDREAIRQEREQQAAIQLERAKSKPVAFAVKTNVSYCGALDEDVPVPSTAISFDAKDFLHIKEKYNNDWWIGRLVKEGCEIGFIPSPLRLENIRIQQEQKRGRFHGGKSSGNSSSSLGEMVSGTFRATPTSTAKQKQKVTEHIPPYDVVPSMRPVVLVGPSLKGYERKYKVKLKESLSWQDLCNWLFLMQTPSITQHNL", "length": 232, "header": "tr|A0A1B0GTH0-1|CACB4_HUMAN Computationally mapped isoform of Voltage-dependent L-type calcium channel subunit beta-4 OS=Homo sapiens OX=9606 GN=CACNB4 PE=1 SV=1 CANONICAL=O00305-1" }, "locus": { "chromosome": "2", "start_pos": 151973713, "end_pos": 151855277, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000637535.1", "url": "https://www.ensembl.org/id/ENST00000637535.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000490891.1", "url": "https://www.ensembl.org/id/ENSP00000490891.1" } ] } }, { "isoform_ac": "A0A1B0GTK1-1", "url": "", "sequence": { "sequence": "MYDNLYLHGIEDSEAGSADSYTSRPSDSDVSLEEDREAIRQEREQQAAIQLERAKSKPVAFAVKTNVSYCGALDEDVPVPSTAISFDAKDFLHIKEKYNNDWWIGRLVKEGCEIGFIPSPLRLENIRIQQEQKRGRFHGGKSSGNSSSSLGEMVSGTFRATPTSTDGAHSSLRCCTVNASGGVSGAVTERLRAEVQSEIERIFELARSLQLVVLDADTINHPAQLIKTSLAPIIVHVKVSSPKVLQRLIKSRGKSQSKHLNVQLVAADKLAQCPPEMFDVILDENQLEDACEHLGEYLEAYWRATHTTSSTPMTPLLGRNLGSTALSPYPTAISGLQSQRMRHSNHSTENSPIERRSLMTSDENYHNERARKSRNRLSSSSQHSRDHYPLVEEDYPDSYQDTYKPHRNRGSPGGYSHDSRHRL", "length": 423, "header": "tr|A0A1B0GTK1-1|A0A1B0GTK1_HUMAN Computationally mapped isoform of Voltage-dependent L-type calcium channel subunit beta-3 OS=Homo sapiens OX=9606 GN=CACNB4 PE=1 SV=1 CANONICAL=O00305-1" }, "locus": { "chromosome": "2", "start_pos": 151973713, "end_pos": 151839122, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000637779.1", "url": "https://www.ensembl.org/id/ENST00000637779.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000489732.1", "url": "https://www.ensembl.org/id/ENSP00000489732.1" } ] } }, { "isoform_ac": "A0A1B0GTL1-1", "url": "", "sequence": { "sequence": "MYDNLYLHGIEDSEALTKQLGVGRISKTEIGLLSDPNGFSGFLHKQAV", "length": 48, "header": "tr|A0A1B0GTL1-1|CACB4_HUMAN Computationally mapped isoform of Voltage-dependent L-type calcium channel subunit beta-4 OS=Homo sapiens OX=9606 GN=CACNB4 PE=1 SV=1 CANONICAL=O00305-1" }, "locus": { "chromosome": "2", "start_pos": 151973713, "end_pos": 151883339, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000637436.1", "url": "https://www.ensembl.org/id/ENST00000637436.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000489746.1", "url": "https://www.ensembl.org/id/ENSP00000489746.1" } ] } }, { "isoform_ac": "A0A1B0GTN2-1", "url": "", "sequence": { "sequence": "XDAKDFLHIKEKYNNDWWIGRLVKEGCEIGFIPSPLRLENIRIQQEQKRGRFHGGKSSGNSSSSLGEMVSGTFRATPTSTDGAHSSLRCCTVNASGGVSGAVTERLRGNV", "length": 110, "header": "tr|A0A1B0GTN2-1|CACB4_HUMAN Computationally mapped isoform of Voltage-dependent L-type calcium channel subunit beta-4 OS=Homo sapiens OX=9606 GN=CACNB4 PE=1 SV=1 CANONICAL=O00305-1" }, "locus": { "chromosome": "2", "start_pos": 151880831, "end_pos": 151842080, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000637007.1", "url": "https://www.ensembl.org/id/ENST00000637007.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000489772.1", "url": "https://www.ensembl.org/id/ENSP00000489772.1" } ] } }, { "isoform_ac": "A0A1B0GTN8-1", "url": "", "sequence": { "sequence": "MDVVARGTTTRRSRLKRSDGSTTSTSFILRQGSADSYTSRPSDSDVSLEEDREAIRQEREQQAAIQLERAKKYNNDWWIGRLVKEGCEIGFIPSPLRLENIRIQQEQKRGRFHGGKSSGNSSSSLGEMVSGTFRATPTSTAKQKQKVTEHIPPYDVVPSMRPVVLVGPSLKGYEVTDMMQKALFDFLKHRFDGRISITRVTADISLAKRSVLNNPSKRAIIERSNTRSSLAEVQSEIERIFELARSLQLVVLDADTINHPAQLIKTSLAPIIVHVKVSSPKVLQRLIKSRGKSQSKHLNVQLVAADKLAQCPPEMFDVILDENQLEDACEHLGEYLEAYWRATHTTSSTPMTPLLGRNLGSTALSPYPTAISGLQSQRMRHSNHSTENSPIERRSLMTSDENYHNERARKSRNRLSSSSQHSRDHYPLVEEDYPDSYQDTYKPHRNRGSPGGYSHDSRHRL", "length": 461, "header": "tr|A0A1B0GTN8-1|CACB4_HUMAN Computationally mapped isoform of Voltage-dependent L-type calcium channel subunit beta-4 OS=Homo sapiens OX=9606 GN=CACNB4 PE=1 SV=1 CANONICAL=O00305-1" }, "locus": { "chromosome": "2", "start_pos": 152098649, "end_pos": 151839122, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000636442.1", "url": "https://www.ensembl.org/id/ENST00000636442.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000489779.1", "url": "https://www.ensembl.org/id/ENSP00000489779.1" } ] } }, { "isoform_ac": "A0A1B0GTP5-1", "url": "", "sequence": { "sequence": "MVSGTFRATPTSTAKQKQKVTEHIPPYDVVPSMRPVVLVGPSLKGYEVTDMMQKALFDFLKHRFDGRISITRVTADISLAKRSVLNNPSKRAIIERSNTRSSLAEVQSEIERIFELARSLQLVVLDADTINHPAQLIKTSLAPIIVHVKVSSPKVLQRLIKSRGKSQSKHLNVQLVAADKLAQCPPEMFDVILDENQLEDACEHLGEYLEAYWRATHTTSSTPMTPLLGRNLGSTALSPYPTAISGLQSQRMRHSNHSTENSPIERRSLMTSDENYHNERARKSRNRLSSSSQHSRDHYPLVEEDYPDSYQDTYKPHRNRGSPGGYSHDSRHRL", "length": 334, "header": "tr|A0A1B0GTP5-1|CACB4_HUMAN Computationally mapped isoform of Voltage-dependent L-type calcium channel subunit beta-4 OS=Homo sapiens OX=9606 GN=CACNB4 PE=1 SV=1 CANONICAL=O00305-1" }, "locus": { "chromosome": "2", "start_pos": 151872456, "end_pos": 151839122, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000637284.1", "url": "https://www.ensembl.org/id/ENST00000637284.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000489787.1", "url": "https://www.ensembl.org/id/ENSP00000489787.1" } ] } }, { "isoform_ac": "A0A1B0GTP6-1", "url": "", "sequence": { "sequence": "MDVVARGTTTRRSRLKRSDGSTTSTSFILRQGSADSYTSRPSDSDVSLEEDREAIRQEREQQAAIQLERAKSKPVAFAVKTNVSYCGALDEDVPVPSTAISFDAKDFLHIKEKYNNDWWIGRLVKEGCEIGFIPSPLRLENIRIQQEQKRGRFHGGKSSGNSSSSLGEMVSGTFRATPTSTAKQKQKVTEHIPPYDVVPSMRPVVLVGPSLKGYEEMFDVILDENQLEDACEHLGEYLEAYWRATHTTSSTPMTPLLGRNLGSTALSPYPTAISGLQSQRMRHSNHSTENSPIERRSLMTSDENYHNERARKSRNRLSSSSQHSRDHYPLVEEDYPDSYQDTYKPHRNRGSPGGYSHDSRHRL", "length": 363, "header": "tr|A0A1B0GTP6-1|CACB4_HUMAN Computationally mapped isoform of Voltage-dependent L-type calcium channel subunit beta-4 OS=Homo sapiens OX=9606 GN=CACNB4 PE=1 SV=1 CANONICAL=O00305-1" }, "locus": { "chromosome": "2", "start_pos": 152098649, "end_pos": 151839122, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000636785.1", "url": "https://www.ensembl.org/id/ENST00000636785.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000489788.1", "url": "https://www.ensembl.org/id/ENSP00000489788.1" } ] } }, { "isoform_ac": "A0A1B0GTS4-1", "url": "", "sequence": { "sequence": "MAGSADSYTSRPSDSDVSLEEDREAIRQEREQQAAIQLERAKSKPVAFAVKTNVSYCGALDEDVPVPSTAISFDAKDFLHIKEKYNNDWWIGRLVKEGCEIGFIPSPLRLENIRIQQEQKRGRFHGGKSSGNSSSSLGEMVSGTFRATPTSTAKQKQKVTEHIPPYDVVPSMRPVVLVGPSLKGYEVTDMMQKALFDFLKHRFDGRISITRVTADISLAKRSVLNNPSKRAIIERSNTRSSLAEVQSEIERIFELARSLQLVVLDADTINHPAQLIKTSLAPIIVHVKVSSPKVLQRLIKSRGKSQSKHLNVQLVAADKLAQCPPSQRMRHSNHSTENSPIERRSLMTSDENYHNERARKSRNRLSSSSQHSRDHYPLVEEDYPDSYQDTYKPHRNRGSPGGYSHDSRHRL", "length": 411, "header": "tr|A0A1B0GTS4-1|A0A1B0GTS4_HUMAN Computationally mapped isoform of Calcium voltage-gated channel auxiliary subunit beta 4 OS=Homo sapiens OX=9606 GN=CACNB4 PE=1 SV=1 CANONICAL=O00305-1" }, "locus": { "chromosome": "2", "start_pos": 151971550, "end_pos": 151839122, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000636130.1", "url": "https://www.ensembl.org/id/ENST00000636130.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000490607.1", "url": "https://www.ensembl.org/id/ENSP00000490607.1" } ] } }, { "isoform_ac": "A0A1B0GTX2-1", "url": "", "sequence": { "sequence": "MAGSADSYTSRPSDSDVSLEEDREAIRQEREQQAAIQLERAKSKPVAFAVKTNVSYCGALDEDVPVPSTAISFDAKDFLHIKEKYNNDWWIGRLVKEGCEIGFIPSPLRLENIRIQQEQKRGRFHGGLFVASLVSWYLGEDSFRKSSGNSSSSLGEMVSGTFRATPTSTAKQKQKVTEHIPPYDVVPSMRPVVLVGPSLKGYEVTDMMQKALFDFLKHRFDGRISITRVTADISLAKRSVLNNPSKRAIIERSNTRSSLAEVQSEIERIFELARSLQLVVLDADTINHPAQLIKTSLAPIIVHVKVSSPKVLQRLIKSRGKSQSKHLNVQLVAADKLAQCPPEMFDVILDENQLEDACEHLGEYLEAYWRATHTTSSTPMTPLLGRNLGSTALSPYPTAISGLQSQRMRHSNHSTENSPIERRSLMTSDENYHNERARKSRNRLSSSSQHSRDHYPLVEEDYPDSYQDTYKPHRNRGSPGGYSHDSRHRL", "length": 490, "header": "tr|A0A1B0GTX2-1|CACB4_HUMAN Computationally mapped isoform of Voltage-dependent L-type calcium channel subunit beta-4 OS=Homo sapiens OX=9606 GN=CACNB4 PE=1 SV=1 CANONICAL=O00305-1" }, "locus": { "chromosome": "2", "start_pos": 151971550, "end_pos": 151839122, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000637762.1", "url": "https://www.ensembl.org/id/ENST00000637762.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000489876.1", "url": "https://www.ensembl.org/id/ENSP00000489876.1" } ] } }, { "isoform_ac": "A0A1B0GTX6-1", "url": "", "sequence": { "sequence": "MYDNLYLHGIEDSEAGSADSYTSRPSDSDVSLEEDREAIRQEREQQAAIQLERAKSKPVAFAVKTNVSYCGALDEDVPVPSTAISFDAKDFLHIKEKYNNDWWIGRLVKEGCEIGFIPSPLRLENIRIQQEQKRGRFHGGKSSGNSSSSLGEMVSGTFRATPTSTAKQKQKVDFNNESDS", "length": 180, "header": "tr|A0A1B0GTX6-1|CACB4_HUMAN Computationally mapped isoform of Voltage-dependent L-type calcium channel subunit beta-4 OS=Homo sapiens OX=9606 GN=CACNB4 PE=1 SV=1 CANONICAL=O00305-1" }, "locus": { "chromosome": "2", "start_pos": 151973713, "end_pos": 151860797, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000635738.1", "url": "https://www.ensembl.org/id/ENST00000635738.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000489881.1", "url": "https://www.ensembl.org/id/ENSP00000489881.1" } ] } }, { "isoform_ac": "A0A1B0GTX8-1", "url": "", "sequence": { "sequence": "MAGSADSYTSRPSDSDVSLEEDREAIRQEREQQAAIQLERAKSKPVAFAVKTNVSYCGALDEDVPVPSTAISFDAKDFLHIKEKYNNDWWIGRLVKEGCEIGFIPSPLRLENIRIQQEQKRGRFHGGKSSGNSSSSLGEMVSGTFRATPTSTDGAHSSLRCCTVNASGGVSGAVTERLRAEVQSEIERIFELARSLQLVVLDADTINHPAQLIKTSLAPIIVHVKVSSPKVLQRLIKSRGKSQSKHLNVQLVAADKLAQCPPEMFDVILDENQLEDACEHLGEYLEAYWRATHTTSSTPMTPLLGRNLGSTALSPYPTAISGLQSQRMRHSNHSTENSPIERRSLMTSDENYHNERARKSRNRLSSSSQHSRDHYPLVEEDYPDSYQDTYKPHRNRGSPGGYSHDSRHRL", "length": 410, "header": "tr|A0A1B0GTX8-1|CACB4_HUMAN Computationally mapped isoform of Voltage-dependent L-type calcium channel subunit beta-4 OS=Homo sapiens OX=9606 GN=CACNB4 PE=1 SV=1 CANONICAL=O00305-1" }, "locus": { "chromosome": "2", "start_pos": 151971550, "end_pos": 151839122, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000638040.1", "url": "https://www.ensembl.org/id/ENST00000638040.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000489883.1", "url": "https://www.ensembl.org/id/ENSP00000489883.1" } ] } }, { "isoform_ac": "A0A1B0GU05-1", "url": "", "sequence": { "sequence": "MDVVARGTTTRRSRLKRSDGSTTSTSFILRQGSADSYTSRPSDSDVSLEEDREAIRQEREQQAAIQLERAKSKPVAFAVKTNVSYCGALDEDVPVPSTAISFDAKDFLHIKEKYNNDWWIGRLVKEGCEIGFIPSPLRLENIRIQQEQKRGRFHGGKSSGNSSSSLGEMVSGTFRATPTSTAKQKQKVTEHIPPYDVVPSMRPVVLVGPSLKGYEVQISSVTLQFLIEHPGDSHVDACSSRVCFHVGPDGSQCSAWEGRGYRVGLMRPSALSFLSCTLLIFYVLHCLEIPPSKYSQWEDLVKDLLYIKCKEKDFICLDHSHYY", "length": 323, "header": "tr|A0A1B0GU05-1|A0A1B0GU05_HUMAN Computationally mapped isoform of Calcium voltage-gated channel auxiliary subunit beta 4 OS=Homo sapiens OX=9606 GN=CACNB4 PE=1 SV=1 CANONICAL=O00305-1" }, "locus": { "chromosome": "2", "start_pos": 152098649, "end_pos": 151870207, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000636129.1", "url": "https://www.ensembl.org/id/ENST00000636129.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000489912.1", "url": "https://www.ensembl.org/id/ENSP00000489912.1" } ] } }, { "isoform_ac": "A0A1B0GU07-1", "url": "", "sequence": { "sequence": "XKRAIIERSNTRSSLAEVQSEIERIFELARSLQLVVLDADTINHPAQLIKTSLAPIIVHVKVSSPKVLQRLIKSRGKSQSKHLNVQLVAADKLAQCPPSANEAQQPLHRELSN", "length": 113, "header": "tr|A0A1B0GU07-1|CACB4_HUMAN Computationally mapped isoform of Voltage-dependent L-type calcium channel subunit beta-4 OS=Homo sapiens OX=9606 GN=CACNB4 PE=1 SV=1 CANONICAL=O00305-1" }, "locus": { "chromosome": "2", "start_pos": 151860755, "end_pos": 151839332, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000635890.1", "url": "https://www.ensembl.org/id/ENST00000635890.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000489915.1", "url": "https://www.ensembl.org/id/ENSP00000489915.1" } ] } }, { "isoform_ac": "A0A1B0GU32-1", "url": "", "sequence": { "sequence": "MYDNLYLHGIEDSEAGSADSYTSRPSDSDVSLEEDREAIRQEREQQAAIQLERAKSKPVAFAVKTNVSYCGALDEDVPVPSTAISFDAKDFLHIKEKYNNDWWIGRLVKEGCEIGFIPSPLRLENIRIQQEQKRGRFHGGKCLMLYWMKISLRMHVNI", "length": 158, "header": "tr|A0A1B0GU32-1|A0A1B0GU32_HUMAN Computationally mapped isoform of Calcium voltage-gated channel auxiliary subunit beta 4 OS=Homo sapiens OX=9606 GN=CACNB4 PE=1 SV=1 CANONICAL=O00305-1" }, "locus": { "chromosome": "2", "start_pos": 151973713, "end_pos": 151842034, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000637550.1", "url": "https://www.ensembl.org/id/ENST00000637550.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000489943.1", "url": "https://www.ensembl.org/id/ENSP00000489943.1" } ] } }, { "isoform_ac": "A0A1B0GU42-1", "url": "", "sequence": { "sequence": "MVSGTFRATPTSTAKQKQKVTEHIPPYDVVPSMRPVVLVGPSLKGYERKYKVKLKESLSWQDLCNWLFLMQTPSITQHNL", "length": 80, "header": "tr|A0A1B0GU42-1|A0A1B0GU42_HUMAN Computationally mapped isoform of Calcium voltage-gated channel auxiliary subunit beta 4 OS=Homo sapiens OX=9606 GN=CACNB4 PE=1 SV=1 CANONICAL=O00305-1" }, "locus": { "chromosome": "2", "start_pos": 151872456, "end_pos": 151855277, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000635930.1", "url": "https://www.ensembl.org/id/ENST00000635930.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000489953.1", "url": "https://www.ensembl.org/id/ENSP00000489953.1" } ] } }, { "isoform_ac": "A0A1B0GU53-1", "url": "", "sequence": { "sequence": "MYDNLYLHGIEDSEAGSADSYTSRPSDSDVSLEEDREAIRQEREQQAAIQLERAKSKPVAFAVKTNVSYCGALDEDVPVPSTAISFDAKDFLHIKEKYNNDWWIGRLVKEGCEIGFIPSPLRLENIRIQQEQKRGRFHGGKSSGNSSSSLGEMVSGTFRATPTSTAKQKQKVTEHIPPYDVVPSMRPVVLVGPSLKGYEVTDMMQKALFDFLKHRFDGRISITRVTADISLAKRSVLNNPSKRAIIERSNTRSSLAEVQSEIERIFELARSLQLVVLDADTINHPAQLIKTSLAPIIVHVKVSSPKVLQRLIKSRGKSQSKHLNVQLVAADKLAQCPPSQRMRHSNHSTENSPIERRSLMTSDENYHNERARKSRNRLSSSSQHSRDHYPLVEEDYPDSYQDTYKPHRNRGSPGGYSHDSRHRL", "length": 424, "header": "tr|A0A1B0GU53-1|CACB4_HUMAN Computationally mapped isoform of Voltage-dependent L-type calcium channel subunit beta-4 OS=Homo sapiens OX=9606 GN=CACNB4 PE=1 SV=1 CANONICAL=O00305-1" }, "locus": { "chromosome": "2", "start_pos": 151973713, "end_pos": 151839122, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000638091.1", "url": "https://www.ensembl.org/id/ENST00000638091.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000489967.1", "url": "https://www.ensembl.org/id/ENSP00000489967.1" } ] } }, { "isoform_ac": "A0A1B0GUI5-1", "url": "", "sequence": { "sequence": "MAGSADSYTSRPSDSDVSLEEDREAIRQEREQQAAIQLERAKSKPVAFAVKTNVSYCGALDEDVPVPSTAISFDAKDFLHIKEKYNNDWWIGRLVKEGCEIGFIPSPLRLENIRIQQEQKRGRFHGGKSSGNSSSSLGEMVSGTFRATPTSTAKQKQKVEMFDVILDENQLEDACEHLGEYLEAYWRATHTTSSTPMTPLLGRNLGSTALSPYPTAISGLQSQRMRHSNHSTENSPIERRSLMTSDENYHNERARKSRNRLSSSSQHSRDHYPLVEEDYPDSYQDTYKPHRNRGSPGGYSHDSRHRL", "length": 307, "header": "tr|A0A1B0GUI5-1|CACB4_HUMAN Computationally mapped isoform of Voltage-dependent L-type calcium channel subunit beta-4 OS=Homo sapiens OX=9606 GN=CACNB4 PE=1 SV=1 CANONICAL=O00305-1" }, "locus": { "chromosome": "2", "start_pos": 151971550, "end_pos": 151839122, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000637547.1", "url": "https://www.ensembl.org/id/ENST00000637547.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000490124.1", "url": "https://www.ensembl.org/id/ENSP00000490124.1" } ] } }, { "isoform_ac": "A0A1B0GUI8-1", "url": "", "sequence": { "sequence": "MSSSSYAKNGTADGPHSPTSQVARGTTTRRSRLKRSDGSTTSTSFILRQGSADSYTSRPSDSDVSLEEDREAIRQEREQQAAIQLERAKSKPVAFAVKTNVSYCGALDEDVPVPSTAISFDAKDFLHIKEKYNNDWWIGRLVKEGCEIGFIPSPLRLENIRIQQEQKRGRFHGGKSSGNSSSSLGEMVSGTFRATPTSTAKQKQKVTEHIPPYDVVPSMRPVVLVGPSLKGYEVTDMMQKALFDFLKHRFDGRVSE", "length": 256, "header": "tr|A0A1B0GUI8-1|CACB4_HUMAN Computationally mapped isoform of Voltage-dependent L-type calcium channel subunit beta-4 OS=Homo sapiens OX=9606 GN=CACNB4 PE=1 SV=1 CANONICAL=O00305-1" }, "locus": { "chromosome": "2", "start_pos": 152099011, "end_pos": 151839370, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000637309.1", "url": "https://www.ensembl.org/id/ENST00000637309.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000490127.1", "url": "https://www.ensembl.org/id/ENSP00000490127.1" } ] } }, { "isoform_ac": "A0A1B0GUJ7-1", "url": "", "sequence": { "sequence": "MAGSADSYTSRPSDSDVSLEEDREAIRQEREQQAAIQLERAKSKPVAFAVKTNVSYCGALDEDVPVPSTAISFDAKDFLHIKEKYNNDWWIGRLVKEGCEIGFIPSPLRLENIRIQQEQKRGRFHGGKCLMLYWMKISLRMHVNI", "length": 145, "header": "tr|A0A1B0GUJ7-1|CACB4_HUMAN Computationally mapped isoform of Voltage-dependent L-type calcium channel subunit beta-4 OS=Homo sapiens OX=9606 GN=CACNB4 PE=1 SV=1 CANONICAL=O00305-1" }, "locus": { "chromosome": "2", "start_pos": 151971550, "end_pos": 151842034, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000637232.1", "url": "https://www.ensembl.org/id/ENST00000637232.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000490138.1", "url": "https://www.ensembl.org/id/ENSP00000490138.1" } ] } }, { "isoform_ac": "A0A1B0GUK3-1", "url": "", "sequence": { "sequence": "MYDNLYLHGIEDSEAGSADSYTSRPSDSDVSLEEDREAIRQEREQQAAIQLERAKSKPVAFAVKTNVSYCGALDEDVPVPSTAISFDAKDFLHIKEKYNNDWWIGRLVKEGCEIGFIPSPLRLENIRIQQEQKRGRFHGGKSSGNSSSSLGEMVSGTFRATPTSTDGAHSSLRCCTVNASGGVSGAVTERLRGNRHDAESPL", "length": 202, "header": "tr|A0A1B0GUK3-1|A0A1B0GUK3_HUMAN Computationally mapped isoform of Calcium voltage-gated channel auxiliary subunit beta 4 OS=Homo sapiens OX=9606 GN=CACNB4 PE=1 SV=1 CANONICAL=O00305-1" }, "locus": { "chromosome": "2", "start_pos": 151973713, "end_pos": 151869207, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000637312.1", "url": "https://www.ensembl.org/id/ENST00000637312.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000490144.1", "url": "https://www.ensembl.org/id/ENSP00000490144.1" } ] } }, { "isoform_ac": "A0A1B0GUK4-1", "url": "", "sequence": { "sequence": "MYDNLYLHGIEDSEAGSADSYTSRPSDSDVSLEEDREAIRQEREQQAAIQLERAKSKPVAFAVKTNVSYCGALDEDVPVPSTAISFDAKDFLHIKEKYNNDWWIGRLVKEGCEIGFIPSPLRLENIRIQQEQKRGRFHGGKSSGNSSSSLGEMVSGTFRATPTSTAKQKQKVTEHIPPYDVVPSMRPVVLVGPSLKGYEVTDMMQKALFDFLKHRFDGRISITRVTADISLAKRSVLNNPSKRAIIERSNTRSSLAEVQSEIERIFELARSLQLVVLDADTINHPAQLIKTSLAPIIVHVKVSSPKSQRMRHSNHSTENSPIERRSLMTSDENYHNERARKSRNRLSSSSQHSRDHYPLVEEDYPDSYQDTYKPHRNRGSPGGYSHDSRHRL", "length": 392, "header": "tr|A0A1B0GUK4-1|A0A1B0GUK4_HUMAN Computationally mapped isoform of Voltage-dependent L-type calcium channel subunit beta-3 OS=Homo sapiens OX=9606 GN=CACNB4 PE=1 SV=1 CANONICAL=O00305-1" }, "locus": { "chromosome": "2", "start_pos": 151973713, "end_pos": 151839122, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000636901.1", "url": "https://www.ensembl.org/id/ENST00000636901.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000490145.1", "url": "https://www.ensembl.org/id/ENSP00000490145.1" } ] } }, { "isoform_ac": "A0A1B0GUM9-1", "url": "", "sequence": { "sequence": "MAGSADSYTSRPSDSDVSLEEDREAIRQEREQQAAIQLERAKSKPVAFAVKTNVSYCGALDEDVPVPSTAISFDAKDFLHIKEKYNNDWWIGRLVKEGCEIGFIPSPLRLENIRIQQEQKRGRFHGGKSSGNSSSSLGEMVSGTFRATPTSTAKQKQKVTEHIPPYDVVPSMRPVVLVGPSLKGYEEMFDVILDENQLEDACEHLGEYLEAYWRATHTTSSTPMTPLLGRNLGSTALSPYPTAISGLQSQRMRHSNHSTENSPIERRSLMTSDENYHNERARKSRNRLSSSSQHSRDHYPLVEEDYPDSYQDTYKPHRNRGSPGGYSHDSRHRL", "length": 334, "header": "tr|A0A1B0GUM9-1|CACB4_HUMAN Computationally mapped isoform of Voltage-dependent L-type calcium channel subunit beta-4 OS=Homo sapiens OX=9606 GN=CACNB4 PE=1 SV=1 CANONICAL=O00305-1" }, "locus": { "chromosome": "2", "start_pos": 151971550, "end_pos": 151839122, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000636108.1", "url": "https://www.ensembl.org/id/ENST00000636108.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000490176.1", "url": "https://www.ensembl.org/id/ENSP00000490176.1" } ] } }, { "isoform_ac": "A0A1B0GUR1-1", "url": "", "sequence": { "sequence": "XYWRATHTTSSTPMTPLLGRNLGSTALSPYPTAISGLQRKLPRD", "length": 44, "header": "tr|A0A1B0GUR1-1|CACB4_HUMAN Computationally mapped isoform of Voltage-dependent L-type calcium channel subunit beta-4 OS=Homo sapiens OX=9606 GN=CACNB4 PE=1 SV=1 CANONICAL=O00305-1" }, "locus": { "chromosome": "2", "start_pos": 151842014, "end_pos": 151841720, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000636024.1", "url": "https://www.ensembl.org/id/ENST00000636024.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000490208.1", "url": "https://www.ensembl.org/id/ENSP00000490208.1" } ] } }, { "isoform_ac": "A0A1B0GUU5-1", "url": "", "sequence": { "sequence": "MAGSADSYTSRPSDSDVSLEEDREAIRQEREQQAAIQLER", "length": 40, "header": "tr|A0A1B0GUU5-1|CACB4_HUMAN Computationally mapped isoform of Voltage-dependent L-type calcium channel subunit beta-4 OS=Homo sapiens OX=9606 GN=CACNB4 PE=1 SV=1 CANONICAL=O00305-1" }, "locus": { "chromosome": "2", "start_pos": 151971550, "end_pos": 151883257, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000636496.1", "url": "https://www.ensembl.org/id/ENST00000636496.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000490249.1", "url": "https://www.ensembl.org/id/ENSP00000490249.1" } ] } }, { "isoform_ac": "A0A1B0GUU8-1", "url": "", "sequence": { "sequence": "MAGSADSYTSRPSDSDVSLEEDREAIRQEREQQAAIQLERAKSKPVAFAVKTNVSYCGALDEDVPVPSTAISFDAKDFLHIKEKYNNDWWIGRLVKEGCEIGFIPSPLRLENIRIQQEQKRGRFHGGKSSGNSSSSLGEMVSGTFRATPTSTAKQKQKVTEHIPPYDVVPSMRPVVLVGPSLKGYEDFNNESDS", "length": 194, "header": "tr|A0A1B0GUU8-1|CACB4_HUMAN Computationally mapped isoform of Voltage-dependent L-type calcium channel subunit beta-4 OS=Homo sapiens OX=9606 GN=CACNB4 PE=1 SV=1 CANONICAL=O00305-1" }, "locus": { "chromosome": "2", "start_pos": 151971550, "end_pos": 151860797, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000636507.1", "url": "https://www.ensembl.org/id/ENST00000636507.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000490252.1", "url": "https://www.ensembl.org/id/ENSP00000490252.1" } ] } }, { "isoform_ac": "A0A1B0GUW8-1", "url": "", "sequence": { "sequence": "MAGSADSYTSRPSDSDVSLEEDREAIRQEREQQAAIQLERAKSKPVAFAVKTNVSYCGALDEDVPVPSTAISFDAKDFLHIKEKYNNDWWIGRLVKEGCEIGFIPSPLRLENIRIQQEQKRGRFHGGKSSGNSSSSLGEMVSGTFRATPTSTAKQKQKVTEHIPPYDVVPSMRPVVLVGPSLKGYESWKCQRDEQESGLQKSSHGHGEFPPTYTN", "length": 215, "header": "tr|A0A1B0GUW8-1|CACB4_HUMAN Computationally mapped isoform of Voltage-dependent L-type calcium channel subunit beta-4 OS=Homo sapiens OX=9606 GN=CACNB4 PE=1 SV=1 CANONICAL=O00305-1" }, "locus": { "chromosome": "2", "start_pos": 151971550, "end_pos": 151869649, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000637224.1", "url": "https://www.ensembl.org/id/ENST00000637224.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000490276.1", "url": "https://www.ensembl.org/id/ENSP00000490276.1" } ] } }, { "isoform_ac": "A0A1B0GV16-1", "url": "", "sequence": { "sequence": "MYDNLYLHGIEDSEAGSADSYTSRPSDSDVSLEEDREAIRQEREQQAAIQLERAKSKPVAFAVKTNVSYCGALDEDVPVPSTAISFDAKDFLHIKEKYNNDWWIGRLVKEGCEIGFIPSPLRLENIRIQQEQKRGRFHGGKSSGNSSSSLGEMVSGTFRATPTSTAKQKQKVTEHIPPYDVVPSMRPVVLVGPSLKGYEVQISSVTLQFLIEHPGDSHVDACSSRVCFHVGPDGSQCSAWEGRGYRVGLMRPSALSFLSCTLLIFYVLHCLEIPPSKYSQWEDLVKDLLYIKCKEKDFICLDHSHYY", "length": 307, "header": "tr|A0A1B0GV16-1|CACB4_HUMAN Computationally mapped isoform of Voltage-dependent L-type calcium channel subunit beta-4 OS=Homo sapiens OX=9606 GN=CACNB4 PE=1 SV=1 CANONICAL=O00305-1" }, "locus": { "chromosome": "2", "start_pos": 151973713, "end_pos": 151870207, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000636947.1", "url": "https://www.ensembl.org/id/ENST00000636947.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000490337.1", "url": "https://www.ensembl.org/id/ENSP00000490337.1" } ] } }, { "isoform_ac": "A0A1B0GVB2-1", "url": "", "sequence": { "sequence": "MAGSADSYTSRPSDSDVSLEEDREAIRQEREQQAAIQLERAKSKPVAFAVKTNVSYCGALDEDVPVPSTAISFDAKDFLHIKEKYNNDWWIGRLVKEGCEIGFIPSPLRLENIRIQQEQKRGRFHGGKSSGNSSSSLGEMVSGTFRATPTSTAKQKQKVTEHIPPYDVVPSMRPVVLVGPSLKGYEVTDMMQKALFDFLKHRFDGRISITRVTADISLAKRSVLNNPSKRAIIERSNTRSSLAEVQSEIERIFELARSLQLVVLDADTINHPAQLIKTSLAPIIVHVKVSSPKVLQRLIKSRGKSQSKHLNVQLVAADKLAQCPPEMFDVILDENQLEDACEHLGEYLEAYWRATHTTSSTPMTPLLGRNLGSTALSPYPTAISGLQRKLPRD", "length": 393, "header": "tr|A0A1B0GVB2-1|A0A1B0GVB2_HUMAN Computationally mapped isoform of Calcium voltage-gated channel auxiliary subunit beta 4 OS=Homo sapiens OX=9606 GN=CACNB4 PE=1 SV=1 CANONICAL=O00305-1" }, "locus": { "chromosome": "2", "start_pos": 151971550, "end_pos": 151841722, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000637828.1", "url": "https://www.ensembl.org/id/ENST00000637828.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000490443.1", "url": "https://www.ensembl.org/id/ENSP00000490443.1" } ] } }, { "isoform_ac": "A0A1B0GVF0-1", "url": "", "sequence": { "sequence": "MAGSADSYTSRPSDSDVSLEEDREAIRQEREQQAAIQLERAKSKPVAFAVKTNVSYCGALDEDVPVPSTAISFDAKDFLHIKEKYNNDWWIGRLVKEGCEIGFIPSPLRLENIRIQQEQKRGRFHGGKSSGNSSSSLGEMVSGTFRATPTSTAEVQSEIERIFELARSLQLVVLDADTINHPAQLIKTSLAPIIVHVKVSSPKEMFDVILDENQLEDACEHLGEYLEAYWRATHTTSSTPMTPLLGRNLGSTALSPYPTAISGLQSQRMRHSNHSTENSPIERRSLMTSDENYHNERARKSRNRLSSSSQHSRDHYPLVEEDYPDSYQDTYKPHRNRGSPGGYSHDSRHRL", "length": 351, "header": "tr|A0A1B0GVF0-1|A0A1B0GVF0_HUMAN Computationally mapped isoform of Calcium voltage-gated channel auxiliary subunit beta 4 OS=Homo sapiens OX=9606 GN=CACNB4 PE=1 SV=1 CANONICAL=O00305-1" }, "locus": { "chromosome": "2", "start_pos": 151971550, "end_pos": 151839122, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000636380.1", "url": "https://www.ensembl.org/id/ENST00000636380.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000490488.1", "url": "https://www.ensembl.org/id/ENSP00000490488.1" } ] } }, { "isoform_ac": "A0A1B0GVG1-1", "url": "", "sequence": { "sequence": "MYDNLYLHGIEDSEAGSADSYTSRPSDSDVSLEEDREAIRQEREQQAAIQLERAKSKPVAFAVKTNVSYCGALDEDVPVPSTAISFDAKDFLHIKEKYNNDWWIGRLVKEGCEIGFIPSPLRLENIRIQQEQKRGRFHGGKSSGNSSSSLGEMVSGTFRATPTSTGFQ", "length": 168, "header": "tr|A0A1B0GVG1-1|CACB4_HUMAN Computationally mapped isoform of Voltage-dependent L-type calcium channel subunit beta-4 OS=Homo sapiens OX=9606 GN=CACNB4 PE=1 SV=1 CANONICAL=O00305-1" }, "locus": { "chromosome": "2", "start_pos": 151973713, "end_pos": 151860813, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000638150.1", "url": "https://www.ensembl.org/id/ENST00000638150.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000490501.1", "url": "https://www.ensembl.org/id/ENSP00000490501.1" } ] } }, { "isoform_ac": "A0A1B0GVP7-1", "url": "", "sequence": { "sequence": "XPSPLRLENIRIQQEQKRGRFHGGKSSGNSSSSLGEMVSGTFRATPTSTDGAHSSLRCCTVNASGGVSGAVTERLRGFQ", "length": 79, "header": "tr|A0A1B0GVP7-1|A0A1B0GVP7_HUMAN Computationally mapped isoform of Calcium voltage-gated channel auxiliary subunit beta 4 OS=Homo sapiens OX=9606 GN=CACNB4 PE=1 SV=1 CANONICAL=O00305-1" }, "locus": { "chromosome": "2", "start_pos": 151876494, "end_pos": 151860811, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000636390.1", "url": "https://www.ensembl.org/id/ENST00000636390.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000490603.1", "url": "https://www.ensembl.org/id/ENSP00000490603.1" } ] } }, { "isoform_ac": "A0A1B0GVT6-1", "url": "", "sequence": { "sequence": "MAGSADSYTSRPSDSDVSLEEDREAIRQEREQQAAIQLERAKSKPVAFAVKTNVSYCGALDEDVPVPSTAISFDAKDFLHIKEKYNNDWWIGRLVKEGCEIGFIPSPLRLENIRIQQEQKRGRFHGGKSSGNSSSSLGEMVSGTFRATPTSTAKQKQKVTEHIPPYDVVPSMRPVVLVGPSLKGYERKYKVKLKESLSWQDLCNWLFLMQTPSITQHNL", "length": 219, "header": "tr|A0A1B0GVT6-1|CACB4_HUMAN Computationally mapped isoform of Voltage-dependent L-type calcium channel subunit beta-4 OS=Homo sapiens OX=9606 GN=CACNB4 PE=1 SV=1 CANONICAL=O00305-1" }, "locus": { "chromosome": "2", "start_pos": 151971550, "end_pos": 151855277, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000637132.1", "url": "https://www.ensembl.org/id/ENST00000637132.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000490651.1", "url": "https://www.ensembl.org/id/ENSP00000490651.1" } ] } }, { "isoform_ac": "A0A1B0GVU5-1", "url": "", "sequence": { "sequence": "MYDNLYLHGIEDSEAGSADSYTSRPSDSDVSLEEDREAIRQEREQQAAIQLERAKSKPVAFAVKTNVSYCGALDEDVPVPSTAISFDAKDFLHIKEKYNNDWWIGRLVKEGCEIGFIPSPLRLENIRIQQEQKRGRFHGGISITRVTADISLAKRSVLNNPSKRAIIERSNTRSSLAEVQSEIERIFELARSLQLVVLDADTINHPAQLIKTSLAPIIVHVKVSSPKVLQRLIKSRGKSQSKHLNVQLVAADKLAQCPPEMFDVILDENQLEDACEHLGEYLEAYWRATHTTSSTPMTPLLGRNLGSTALSPYPTAISGLQSQRMRHSNHSTENSPIERRSLMTSDENYHNERARKSRNRLSSSSQHSRDHYPLVEEDYPDSYQDTYKPHRNRGSPGGYSHDSRHRL", "length": 407, "header": "tr|A0A1B0GVU5-1|CACB4_HUMAN Computationally mapped isoform of Voltage-dependent L-type calcium channel subunit beta-4 OS=Homo sapiens OX=9606 GN=CACNB4 PE=1 SV=1 CANONICAL=O00305-1" }, "locus": { "chromosome": "2", "start_pos": 151973713, "end_pos": 151839122, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000636617.1", "url": "https://www.ensembl.org/id/ENST00000636617.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000490660.1", "url": "https://www.ensembl.org/id/ENSP00000490660.1" } ] } }, { "isoform_ac": "A0A1B0GW58-1", "url": "", "sequence": { "sequence": "XDFLHIKEKYNNDWWIGRLVKEGCEIGFIPSPLRLENIRIQQEQKRGRFHGGKSSGNSSSSLGEMVSGTFRATPTSTDGAHSSLRCCTVNASGGVSGAVTERLRGTNIICYSSVLDRAPRRQSC", "length": 124, "header": "tr|A0A1B0GW58-1|CACB4_HUMAN Computationally mapped isoform of Voltage-dependent L-type calcium channel subunit beta-4 OS=Homo sapiens OX=9606 GN=CACNB4 PE=1 SV=1 CANONICAL=O00305-1" }, "locus": { "chromosome": "2", "start_pos": 151880822, "end_pos": 151870471, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000638056.1", "url": "https://www.ensembl.org/id/ENST00000638056.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000490787.1", "url": "https://www.ensembl.org/id/ENSP00000490787.1" } ] } }, { "isoform_ac": "A0A1B0GW63-1", "url": "", "sequence": { "sequence": "MAGSADSYTSRPSDSDVSLEEDREAIRQEREQQAAIQLERAKSKPVAFAVKTNVSYCGALDEDVPVPSTAISFDAKDFLHIKEKYNNDWWIGRLVKEGCEIGFIPSPLRLENIRIQQEQKRGRFHGGKSSGNSSSSLGEMVSGTFRATPTSTAKQKQKVTEHIPPYDVVPSMRPVVLVGPSLKGYESQRMRHSNHSTENSPIERRSLMTSDENYHNERARKSRNRLSSSSQHSRDHYPLVEEDYPDSYQDTYKPHRNRGSPGGYSHDSRHRL", "length": 272, "header": "tr|A0A1B0GW63-1|CACB4_HUMAN Computationally mapped isoform of Voltage-dependent L-type calcium channel subunit beta-4 OS=Homo sapiens OX=9606 GN=CACNB4 PE=1 SV=1 CANONICAL=O00305-1" }, "locus": { "chromosome": "2", "start_pos": 151971550, "end_pos": 151839122, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000636721.1", "url": "https://www.ensembl.org/id/ENST00000636721.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000490795.1", "url": "https://www.ensembl.org/id/ENSP00000490795.1" } ] } }, { "isoform_ac": "A0A1B0GW81-1", "url": "", "sequence": { "sequence": "MYDNLYLHGIEDSEANNVMCYPRWCEQSFKPMEKTRPK", "length": 38, "header": "tr|A0A1B0GW81-1|A0A1B0GW81_HUMAN Computationally mapped isoform of Calcium voltage-gated channel auxiliary subunit beta 4 OS=Homo sapiens OX=9606 GN=CACNB4 PE=4 SV=1 CANONICAL=O00305-1" }, "locus": { "chromosome": "2", "start_pos": 151973713, "end_pos": 151971632, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000637330.1", "url": "https://www.ensembl.org/id/ENST00000637330.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000490817.1", "url": "https://www.ensembl.org/id/ENSP00000490817.1" } ] } }, { "isoform_ac": "A0A1B0GWF9-1", "url": "", "sequence": { "sequence": "MYDNLYLHGIEDSEAGSADSYTSRPSDSDVSLEEDREAIRQEREQQAAIQLERAKSKPVAFAVKTNVSYCGALDEDVPVPSTAISFDAKDFLHIKEKYNNDWWIGRLVKEGCEIGFIPSPLRLENIRIQQEQKRGRFHGGKSSGNSSSSLGEMVSGTFRATPTSTAKQKQKVTEHIPPYDVVPSMRPVVLVGPSLKGYEVTDMMQKALFDFLKHRFDGRISITRVTADISLAKRSVLNNPSKRAIIERSNTRSSLAEVQSEIERIFELARSLQLVVLDADTINHPAQLIKTSLAPIIVHVKVSSPKEMFDVILDENQLEDACEHLGEYLEAYWRATHTTSS", "length": 341, "header": "tr|A0A1B0GWF9-1|A0A1B0GWF9_HUMAN Computationally mapped isoform of Voltage-dependent L-type calcium channel subunit beta-3 OS=Homo sapiens OX=9606 GN=CACNB4 PE=1 SV=1 CANONICAL=O00305-1" }, "locus": { "chromosome": "2", "start_pos": 151973713, "end_pos": 151841984, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000637216.1", "url": "https://www.ensembl.org/id/ENST00000637216.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000490910.1", "url": "https://www.ensembl.org/id/ENSP00000490910.1" } ] } }, { "isoform_ac": "A0A1B0GWG5-1", "url": "", "sequence": { "sequence": "MDVVARGTTTRRSRLKRSDGSTTSTSFILRQGSADSYTSRPSDSDVSLEEDREAIRQEREQQAAIQLERAKSKPVAFAVKTNVSYCGALDEDVPVPSTAISFDAKDFLHIKEKYNNDWWIGRLVKEGCEIGFIPSPLRLENIRIQQEQKRGRFHGGKSSGNSSSSLGEMVSGTFRATPTSTEFTYFDMALVIVF", "length": 194, "header": "tr|A0A1B0GWG5-1|CACB4_HUMAN Computationally mapped isoform of Voltage-dependent L-type calcium channel subunit beta-4 OS=Homo sapiens OX=9606 GN=CACNB4 PE=1 SV=1 CANONICAL=O00305-1" }, "locus": { "chromosome": "2", "start_pos": 152098649, "end_pos": 151870865, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000636762.1", "url": "https://www.ensembl.org/id/ENST00000636762.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000490918.1", "url": "https://www.ensembl.org/id/ENSP00000490918.1" } ] } }, { "isoform_ac": "A0A1B0GXG0-1", "url": "", "sequence": { "sequence": "MYDNLYLHGIEDSEAGSADSYTSRPSDSDVSLEEDREAIRQEREQQAAIQLERAKSKPVAFAVKTNVSYCGALDEDVPVPSTAISFDAKDFLHIKEKYNNDWWIGRLVKEGCEIGFIPSPLRLENIRIQQEQKRGRFHGGKSSGNSSSSLGEMVSGTFRATPTSTAKQKQKVTEHIPPYDVVPSMRPVVLVGPSLKGYEHRFDGRISITRVTADISLAKRSVLNNPSKRAIIERSNTRSSLAEVQSEIERIFELARSLQLVVLDADTINHPAQLIKTSLAPIIVHVKVSSPKVLQRLIKSRGKSQSKHLNVQLVAADKLAQCPPEMFDVILDENQLEDACEHLGEYLEAYWRATHTTSSTPMTPLLGRNLGSTALSPYPTAISGLQSQRMRHSNHSTENSPIERRSLMTSDENYHNERARKSRNRLSSSSQHSRDHYPLVEEDYPDSYQDTYKPHRNRGSPGGYSHDSRHRL", "length": 472, "header": "tr|A0A1B0GXG0-1|CACB4_HUMAN Computationally mapped isoform of Voltage-dependent L-type calcium channel subunit beta-4 OS=Homo sapiens OX=9606 GN=CACNB4 PE=1 SV=1 CANONICAL=O00305-1" }, "locus": { "chromosome": "2", "start_pos": 151973713, "end_pos": 151839122, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000360283.11", "url": "https://www.ensembl.org/id/ENST00000360283.11" }, { "database": "Ensembl Peptide", "id": "ENSP00000353425.8", "url": "https://www.ensembl.org/id/ENSP00000353425.8" } ] } }, { "isoform_ac": "A0A1C7CYX2-1", "url": "", "sequence": { "sequence": "MSSSSYAKNGTADGPHSPTSQVARGTTTRRSRLKRSDGSTTSTSFILRQGSADSYTSRPSDSDVSLEEDREAIRQEREQQAAIQLERAKKYNNDWWIGRLVKEGCEIGFIPSPLRLENIRIQQEQKRGRFHGGKSSGNSSSSLGEMVSGTFRATPTSTAKQKQKVTEHIPPYDVVPSMRPVVLVGPSLKGYEVTDMMQKALFDFLKHRFDGRISITRVTADISLAKRSVLNNPSKRAIIERSNTRSSLAEVQSEIERIFELARSLQLVVLDADTINHPAQLIKTSLAPIIVHVKVSSPKVLQRLIKSRGKSQSKHLNVQLVAADKLAQCPPEMFDVILDENQLEDACEHLGEYLEAYWRATHTTSSTPMTPLLGRNLGSTALSPYPTAISGLQSQRMRHSNHSTENSPIERRSLMTSDENYHNERARKSRNRLSSSSQHSRDHYPLVEEDYPDSYQDTYKPHRNRGSPGGYSHDSRHRL", "length": 479, "header": "tr|A0A1C7CYX2-1|CACB4_HUMAN Computationally mapped isoform of Voltage-dependent L-type calcium channel subunit beta-4 OS=Homo sapiens OX=9606 GN=CACNB4 PE=1 SV=1 CANONICAL=O00305-1" }, "locus": { "chromosome": "2", "start_pos": 152099011, "end_pos": 151839122, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000427385.6", "url": "https://www.ensembl.org/id/ENST00000427385.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000410978.2", "url": "https://www.ensembl.org/id/ENSP00000410978.2" } ] } }, { "isoform_ac": "C9J224-1", "url": "", "sequence": { "sequence": "MAGSADSYTSRPSDSDVSLEEDREAIRQEREQQAAIQLERAKKYNNDWWIGRLVKEGCEIGFIPSPLRLENIRIQQEQKRGRFHGGKSSGNSSSSLGEMVSGTFRATPTSTAKQKQKVTEHIPPY", "length": 125, "header": "tr|C9J224-1|CACB4_HUMAN Computationally mapped isoform of Voltage-dependent L-type calcium channel subunit beta-4 OS=Homo sapiens OX=9606 GN=CACNB4 PE=1 SV=2 CANONICAL=O00305-1" }, "locus": { "chromosome": "2", "start_pos": 151971550, "end_pos": 151870591, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000434468.2", "url": "https://www.ensembl.org/id/ENST00000434468.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000399242.2", "url": "https://www.ensembl.org/id/ENSP00000399242.2" } ] } }, { "isoform_ac": "E7DBM8-1", "url": "", "sequence": { "sequence": "MYDNLYLHGIEDSEAGSADSYTSRPSDSDVSLEEDREAIRQEREQQAAIQLERAKSKPVAFAVKTNVSYCGALDEDVPVPSTAISFDAKDFLHIKEKYNNDWWIGRLVKEGCEIGFIPSPLRLENIRIQQEQKRGRFHGGKSSGNSSSSLGEMVSGTFRATPTSTAKQKQKVTEHIPPYDVVPSMRPVVLVGPSLKGYEDFNNESDS", "length": 207, "header": "tr|E7DBM8-1|E7DBM8_HUMAN Computationally mapped isoform of Voltage-dependent L-type calcium channel subunit beta-3 OS=Homo sapiens OX=9606 GN=CACNB4 PE=1 SV=1 CANONICAL=O00305-1" }, "locus": { "chromosome": "2", "start_pos": 151973713, "end_pos": 151860797, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000637491.1", "url": "https://www.ensembl.org/id/ENST00000637491.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000490510.1", "url": "https://www.ensembl.org/id/ENSP00000490510.1" } ] } }, { "isoform_ac": "E7EN11-1", "url": "", "sequence": { "sequence": "MAGSADSYTSRPSDSDVSLEEDREAIRQEREQQAAIQLERAKSKPVAFAVKTNVSYCGALDEDVPVPSTAISFDAKDFLHIKEKYNNDWWIGRLVKEGCEIGFIPSPLRLENIRIQQEQKRGRFHGGKSSGNSSSSLGEMVSGTFRATPTSTAKQKQKVTEHIPPYDVVPSMRPVVLVGPSLKGYEVTDMMQKALFDFLKHRFDGRISITRVTADISLAKRSVLNNPSKRAIIERSNTRSSLAEVQSEIERIFELARSLQLVVLDADTINHPAQLIKTSLAPIIVHVKVSSPKEMFDVILDENQLEDACEHLGEYLEAYWRATHTTSSTPMTPLLGRNLGSTALSPYPTAISGLQSQRMRHSNHSTENSPIERRSLMTSDENYHNERARKSRNRLSSSSQHSRDHYPLVEEDYPDSYQDTYKPHRNRGSPGGYSHDSRHRL", "length": 441, "header": "tr|E7EN11-1|E7EN11_HUMAN Computationally mapped isoform of Calcium voltage-gated channel auxiliary subunit beta 4 OS=Homo sapiens OX=9606 GN=CACNB4 PE=1 SV=2 CANONICAL=O00305-1" }, "locus": { "chromosome": "2", "start_pos": 151971550, "end_pos": 151839122, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000397327.7", "url": "https://www.ensembl.org/id/ENST00000397327.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000380490.3", "url": "https://www.ensembl.org/id/ENSP00000380490.3" } ] } }, { "isoform_ac": "H0Y476-1", "url": "", "sequence": { "sequence": "MAGSADSYTSRPSDSDVSLEEDREAIRQEREQQAAIQLERAKSKPVAFAVKTNVSYCGALDEDVPVPSTAISFDAKDFLHIKEKYNNDWWIGRLVKEGCEIGFIPSPLRLENIRIQQEQKRGRFHGGKSSGNSSSSLGEMVSGTFRATPTSTAKQKQKVTEHIPPYDVVPSMRPVVLVGPSLKGYEVTDMMQKALFDFLKHRFDGRISITRVTADISLAKRSVLNNPSKRAIIERSNTRSSLAEVQSEIERIFELARSLQLVVLDADTINHPAQLIKTSLAPIIVHVKVSSPKVLQRLIKSRGKSQSKHLNVQLVAADKLAQCPPEMFDVILDENQLEDACEHLGEYLEAYWRATHTTSSTPMTPLLGRNLGSTALSPYPTAISGLQSQRMRHSNHSTENSPIERRSLMTSDENYHNERARKSRNRLSSSSQHSRDHYPLVEEDYPDSYQDTYKPHRNRGSPGGYSHDSRHRL", "length": 473, "header": "tr|H0Y476-1|CACB4_HUMAN Computationally mapped isoform of Voltage-dependent L-type calcium channel subunit beta-4 OS=Homo sapiens OX=9606 GN=CACNB4 PE=1 SV=2 CANONICAL=O00305-1" }, "locus": { "chromosome": "2", "start_pos": 151971550, "end_pos": 151839122, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000439467.6", "url": "https://www.ensembl.org/id/ENST00000439467.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000390161.2", "url": "https://www.ensembl.org/id/ENSP00000390161.2" } ] } }, { "isoform_ac": "O00305-1", "url": "", "sequence": { "sequence": "MSSSSYAKNGTADGPHSPTSQVARGTTTRRSRLKRSDGSTTSTSFILRQGSADSYTSRPSDSDVSLEEDREAIRQEREQQAAIQLERAKSKPVAFAVKTNVSYCGALDEDVPVPSTAISFDAKDFLHIKEKYNNDWWIGRLVKEGCEIGFIPSPLRLENIRIQQEQKRGRFHGGKSSGNSSSSLGEMVSGTFRATPTSTAKQKQKVTEHIPPYDVVPSMRPVVLVGPSLKGYEVTDMMQKALFDFLKHRFDGRISITRVTADISLAKRSVLNNPSKRAIIERSNTRSSLAEVQSEIERIFELARSLQLVVLDADTINHPAQLIKTSLAPIIVHVKVSSPKVLQRLIKSRGKSQSKHLNVQLVAADKLAQCPPEMFDVILDENQLEDACEHLGEYLEAYWRATHTTSSTPMTPLLGRNLGSTALSPYPTAISGLQSQRMRHSNHSTENSPIERRSLMTSDENYHNERARKSRNRLSSSSQHSRDHYPLVEEDYPDSYQDTYKPHRNRGSPGGYSHDSRHRL", "length": 520, "header": "sp|O00305-1|CACB4_HUMAN Isoform 1 of Voltage-dependent L-type calcium channel subunit beta-4 OS=Homo sapiens OX=9606 GN=CACNB4 PE=1 SV=2 CANONICAL=O00305-1" }, "locus": { "chromosome": "2", "start_pos": 152099011, "end_pos": 151839122, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000539935.7", "url": "https://www.ensembl.org/id/ENST00000539935.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000438949.1", "url": "https://www.ensembl.org/id/ENSP00000438949.1" } ] } }, { "isoform_ac": "O00305-2", "url": "", "sequence": { "sequence": "MYDNLYLHGIEDSEAGSADSYTSRPSDSDVSLEEDREAIRQEREQQAAIQLERAKSKPVAFAVKTNVSYCGALDEDVPVPSTAISFDAKDFLHIKEKYNNDWWIGRLVKEGCEIGFIPSPLRLENIRIQQEQKRGRFHGGKSSGNSSSSLGEMVSGTFRATPTSTAKQKQKVTEHIPPYDVVPSMRPVVLVGPSLKGYEVTDMMQKALFDFLKHRFDGRISITRVTADISLAKRSVLNNPSKRAIIERSNTRSSLAEVQSEIERIFELARSLQLVVLDADTINHPAQLIKTSLAPIIVHVKVSSPKVLQRLIKSRGKSQSKHLNVQLVAADKLAQCPPEMFDVILDENQLEDACEHLGEYLEAYWRATHTTSSTPMTPLLGRNLGSTALSPYPTAISGLQSQRMRHSNHSTENSPIERRSLMTSDENYHNERARKSRNRLSSSSQHSRDHYPLVEEDYPDSYQDTYKPHRNRGSPGGYSHDSRHRL", "length": 486, "header": "sp|O00305-2|CACB4_HUMAN Isoform 2 of Voltage-dependent L-type calcium channel subunit beta-4 OS=Homo sapiens OX=9606 GN=CACNB4 PE=1 SV=2 CANONICAL=O00305-1" }, "locus": { "chromosome": "2", "start_pos": 151973713, "end_pos": 151839122, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000534999.7", "url": "https://www.ensembl.org/id/ENST00000534999.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000443893.1", "url": "https://www.ensembl.org/id/ENSP00000443893.1" } ] } }, { "isoform_ac": "O00305-3", "url": "", "sequence": { "sequence": "MDVVARGTTTRRSRLKRSDGSTTSTSFILRQGSADSYTSRPSDSDVSLEEDREAIRQEREQQAAIQLERAKSKPVAFAVKTNVSYCGALDEDVPVPSTAISFDAKDFLHIKEKYNNDWWIGRLVKEGCEIGFIPSPLRLENIRIQQEQKRGRFHGGKSSGNSSSSLGEMVSGTFRATPTSTAKQKQKVTEHIPPYDVVPSMRPVVLVGPSLKGYEVTDMMQKALFDFLKHRFDGRISITRVTADISLAKRSVLNNPSKRAIIERSNTRSSLAEVQSEIERIFELARSLQLVVLDADTINHPAQLIKTSLAPIIVHVKVSSPKVLQRLIKSRGKSQSKHLNVQLVAADKLAQCPPEMFDVILDENQLEDACEHLGEYLEAYWRATHTTSSTPMTPLLGRNLGSTALSPYPTAISGLQSQRMRHSNHSTENSPIERRSLMTSDENYHNERARKSRNRLSSSSQHSRDHYPLVEEDYPDSYQDTYKPHRNRGSPGGYSHDSRHRL", "length": 502, "header": "sp|O00305-3|CACB4_HUMAN Isoform 3 of Voltage-dependent L-type calcium channel subunit beta-4 OS=Homo sapiens OX=9606 GN=CACNB4 PE=1 SV=2 CANONICAL=O00305-1" }, "locus": { "chromosome": "2", "start_pos": 152098649, "end_pos": 151839122, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000638005.1", "url": "https://www.ensembl.org/id/ENST00000638005.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000489677.1", "url": "https://www.ensembl.org/id/ENSP00000489677.1" } ] } }, { "isoform_ac": "O00305-4", "url": "", "sequence": { "sequence": "MSSSSYAKNGTADGPHSPTSQVARGTTTRRSRLKRSDGSTTSTSFILRQGSADSYTSRPSDSDVSLEEDREAIRQEREQQAAIQLERAKSKPVAFAVKTNVSYCGALDEDVPVPSTAISFDAKDFLHIKEKYNNDWWIGRLVKEGCEIGFIPSPLRLENIRIQQEQKRGRFHGGKSSGNSSSSLGEMVSGTFRATPTSTAKQKQKVTEHIPPYDVVPSMRPVVLVGPSLKGYEVTDMMQKALFDFLKHRFDGRISITRVTADISLAKRSVLNNPSKRAIIERSNTRSSLAEVQSEIERIFELARSLQLVVLDADTINHPAQLIKTSLAPIIVHVKVSSPKVLQRLIKSRGKSQSKHLNVQLVAADKLAQCPPSQRMRHSNHSTENSPIERRSLMTSDENYHNERARKSRNRLSSSSQHSRDHYPLVEEDYPDSYQDTYKPHRNRGSPGGYSHDSRHRL", "length": 458, "header": "sp|O00305-4|CACB4_HUMAN Isoform 4 of Voltage-dependent L-type calcium channel subunit beta-4 OS=Homo sapiens OX=9606 GN=CACNB4 PE=1 SV=2 CANONICAL=O00305-1" }, "locus": { "chromosome": "2", "start_pos": 152099011, "end_pos": 151839122, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000201943.10", "url": "https://www.ensembl.org/id/ENST00000201943.10" }, { "database": "Ensembl Peptide", "id": "ENSP00000201943.5", "url": "https://www.ensembl.org/id/ENSP00000201943.5" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "O00305", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O00305" }, { "id": "28411811", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28411811" } ] } ], "phosphorylation": [ { "start_pos": 102, "end_pos": 102, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "phospho.ELM", "id": "O00305", "url": "http://phospho.elm.eu.org/byAccession/O00305.html" }, { "database": "iPTMnet", "id": "O00305", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00305" }, { "database": "PubMed", "id": "18220336", "url": "https://glygen.org/publication/PubMed/18220336" } ], "site_lbl": "Ser102" }, { "start_pos": 103, "end_pos": 103, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "phospho.ELM", "id": "O00305", "url": "http://phospho.elm.eu.org/byAccession/O00305.html" }, { "database": "iPTMnet", "id": "O00305", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00305" }, { "database": "PubMed", "id": "18220336", "url": "https://glygen.org/publication/PubMed/18220336" } ], "site_lbl": "Tyr103" }, { "start_pos": 183, "end_pos": 183, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O00305", "url": "https://www.uniprot.org/uniprot/O00305" } ], "site_lbl": "Ser183" }, { "start_pos": 39, "end_pos": 39, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O00305", "url": "https://www.uniprot.org/uniprot/O00305" } ], "site_lbl": "Ser39" }, { "start_pos": 411, "end_pos": 411, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "O00305", "url": "https://www.uniprot.org/uniprot/O00305" } ], "site_lbl": "Thr411" }, { "start_pos": 448, "end_pos": 448, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O00305", "url": "https://www.uniprot.org/uniprot/O00305" } ], "site_lbl": "Ser448" }, { "start_pos": 508, "end_pos": 508, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O00305", "url": "https://www.uniprot.org/uniprot/O00305" } ], "site_lbl": "Ser508" }, { "start_pos": 99, "end_pos": 99, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "phospho.ELM", "id": "O00305", "url": "http://phospho.elm.eu.org/byAccession/O00305.html" }, { "database": "iPTMnet", "id": "O00305", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00305" }, { "database": "PubMed", "id": "18220336", "url": "https://glygen.org/publication/PubMed/18220336" } ], "site_lbl": "Thr99" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Coding and noncoding variation of the human calcium-channel beta4-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia.", "journal": "American journal of human genetics", "date": "2000", "authors": "Escayg A, De Waard M, Lee DD, Bichet D, Wolf P, Mayer T, Johnston J, Baloh R, Sander T, Meisler MH", "evidence": [ { "database": "UniProtKB", "id": "O00305", "url": "https://www.uniprot.org/uniprot/O00305" } ], "reference": [ { "type": "PubMed", "id": "10762541", "url": "https://glygen.org/publication/PubMed/10762541" } ] }, { "title": "Alternative splicing of the beta 4 subunit has alpha1 subunit subtype-specific effects on Ca2+ channel gating.", "journal": "The Journal of neuroscience : the official journal of the Society for Neuroscience", "date": "2002", "authors": "Helton TD, Horne WA", "evidence": [ { "database": "UniProtKB", "id": "O00305", "url": "https://www.uniprot.org/uniprot/O00305" } ], "reference": [ { "type": "PubMed", "id": "11880487", "url": "https://glygen.org/publication/PubMed/11880487" } ] }, { "title": "Polysialyltransferases: major players in polysialic acid synthesis on the neural cell adhesion molecule.", "journal": "Biochimie", "date": "2003", "authors": "Angata K, Fukuda M", "evidence": [ { "database": "Reactome", "id": "R-HSA-419037", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-419037" } ], "reference": [ { "type": "PubMed", "id": "12765789", "url": "https://glygen.org/publication/PubMed/12765789" } ] }, { "title": "Genetic ablation of polysialic acid causes severe neurodevelopmental defects rescued by deletion of the neural cell adhesion molecule.", "journal": "The Journal of biological chemistry", "date": "2005", "authors": "Weinhold B, Seidenfaden R, Rockle I, Muhlenhoff M, Schertzinger F, Conzelmann S, Marth JD, Gerardy-Schahn R, Hildebrandt H", "evidence": [ { "database": "Reactome", "id": "R-HSA-419037", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-419037" } ], "reference": [ { "type": "PubMed", "id": "16267048", "url": "https://glygen.org/publication/PubMed/16267048" } ] }, { "title": "Solution structure of the N-terminal A domain of the human voltage-gated Ca2+channel beta4a subunit.", "journal": "Protein Sci.", "date": "2006", "authors": "Vendel Andrew C, Rithner Christopher D, Lyons Barbara A, Horne William A", "evidence": [ { "database": "UniProtKB", "id": "O00305", "url": "https://www.uniprot.org/uniprot/O00305" } ], "reference": [ { "type": "PubMed", "id": "16385006", "url": "https://glygen.org/publication/PubMed/16385006" } ] }, { "title": "The GK domain of the voltage-dependent calcium channel beta subunit is essential for binding to the alpha subunit.", "journal": "Biochem. Biophys. Res. Commun.", "date": "2007", "authors": "Kobayashi Takeshi, Yamada Yoichi, Fukao Mitsuhiro, Shiratori Kaori, Tsutsuura Masaaki, Tanimoto Katsumasa, Tohse Noritsugu", "evidence": [ { "database": "UniProtKB", "id": "O00305", "url": "https://www.uniprot.org/uniprot/O00305" } ], "reference": [ { "type": "PubMed", "id": "17618603", "url": "https://glygen.org/publication/PubMed/17618603" } ] }, { "title": "Polysialic acid in the plasticity of the developing and adult vertebrate nervous system.", "journal": "Nature reviews. Neuroscience", "date": "2008", "authors": "Rutishauser U", "evidence": [ { "database": "Reactome", "id": "R-HSA-419037", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-419037" } ], "reference": [ { "type": "PubMed", "id": "18059411", "url": "https://glygen.org/publication/PubMed/18059411" } ] }, { "title": "Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis.", "journal": "Journal of proteome research", "date": "2008", "authors": "Cantin GT, Yi W, Lu B, Park SK, Xu T, Lee JD, Yates JR 3rd", "evidence": [ { "database": "iPTMnet", "id": "O00305", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00305" } ], "reference": [ { "type": "PubMed", "id": "18220336", "url": "https://glygen.org/publication/PubMed/18220336" } ] }, { "title": "missing tag=TI", "journal": "missing tag=JT", "date": "missing", "authors": "author information missing", "evidence": [ { "database": "Reactome", "id": "R-HSA-419037", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-419037" } ], "reference": [ { "type": "PubMed", "id": "18607724", "url": "https://glygen.org/publication/PubMed/18607724" } ] }, { "title": "Identification of SH3 domain interaction partners of human FasL (CD178) by phage display screening.", "journal": "BMC Immunol.", "date": "2009", "authors": "Voss M, Lettau M, Janssen O", "evidence": [ { "database": "UniProtKB", "id": "O00305", "url": "https://www.uniprot.org/uniprot/O00305" } ], "reference": [ { "type": "PubMed", "id": "19807924", "url": "https://glygen.org/publication/PubMed/19807924" } ] }, { "title": "Binding properties of the neural cell adhesion molecule to different components of the extracellular matrix.", "journal": "Journal of neurochemistry", "date": "1989", "authors": "Probstmeier R, Kuhn K, Schachner M", "evidence": [ { "database": "Reactome", "id": "R-HSA-419037", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-419037" } ], "reference": [ { "type": "PubMed", "id": "2809592", "url": "https://glygen.org/publication/PubMed/2809592" } ] }, { "title": "A novel strategy for global mapping of O-GlcNAc proteins and peptides using selective enzymatic deglycosylation, HILIC enrichment and mass spectrometry identification.", "journal": "Talanta", "date": "2017", "authors": "Shen B, Zhang W, Shi Z, Tian F, Deng Y, Sun C, Wang G, Qin W, Qian X", "evidence": [ { "database": "O-GlcNAc Database", "id": "O00305", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O00305" } ], "reference": [ { "type": "PubMed", "id": "28411811", "url": "https://glygen.org/publication/PubMed/28411811" } ] }, { "title": "A homozygous missense variant in CACNB4 encoding the auxiliary calcium channel beta4 subunit causes a severe neurodevelopmental disorder and impairs channel and non-channel functions.", "journal": "PLoS genetics", "date": "2020", "authors": "Coste de Bagneaux P, von Elsner L, Bierhals T, Campiglio M, Johannsen J, Obermair GJ, Hempel M, Flucher BE, Kutsche K", "evidence": [ { "database": "RefSeq", "id": "NP_000717", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000717" } ], "reference": [ { "type": "PubMed", "id": "32176688", "url": "https://glygen.org/publication/PubMed/32176688" } ] }, { "title": "Demonstration of (Ca(2+)-Mg2+)-ATPase activity of the neural cell adhesion molecule.", "journal": "FEBS letters", "date": "1993", "authors": "Dzhandzhugazyan K, Bock E", "evidence": [ { "database": "Reactome", "id": "R-HSA-419037", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-419037" } ], "reference": [ { "type": "PubMed", "id": "8262246", "url": "https://glygen.org/publication/PubMed/8262246" } ] }, { "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": "Assignment of human genes for beta 2 and beta 4 subunits of voltage-dependent Ca2+ channels to chromosomes 10p12 and 2q22-q23.", "journal": "Hum. Genet.", "date": "1997", "authors": "Taviaux S, Williams ME, Harpold MM, Nargeot J, Lory P", "evidence": [ { "database": "UniProtKB", "id": "O00305", "url": "https://www.uniprot.org/uniprot/O00305" } ], "reference": [ { "type": "PubMed", "id": "9254841", "url": "https://glygen.org/publication/PubMed/9254841" } ] }, { "title": "Demonstration of an extracellular ATP-binding site in NCAM: functional implications of nucleotide binding.", "journal": "Biochemistry", "date": "1997", "authors": "Dzhandzhugazyan K, Bock E", "evidence": [ { "database": "Reactome", "id": "R-HSA-419037", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-419037" } ], "reference": [ { "type": "PubMed", "id": "9398268", "url": "https://glygen.org/publication/PubMed/9398268" } ] }, { "title": "Calcium channel beta4 (CACNB4): human ortholog of the mouse epilepsy gene lethargic.", "journal": "Genomics", "date": "1998", "authors": "Escayg A, Jones J M, Kearney J A, Hitchcock P F, Meisler M H", "evidence": [ { "database": "UniProtKB", "id": "O00305", "url": "https://www.uniprot.org/uniprot/O00305" } ], "reference": [ { "type": "PubMed", "id": "9628818", "url": "https://glygen.org/publication/PubMed/9628818" } ] } ], "pathway": [ { "id": "hsa:785", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:785", "resource": "KEGG Pathway" }, { "id": "R-HSA-112308", "name": "Presynaptic depolarization and calcium channel opening", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-112308", "resource": "Reactome", "description": "Presynaptic depolarization and calcium channel opening" }, { "id": "R-HSA-419037", "name": "NCAM1 interactions", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-419037", "resource": "Reactome", "description": "NCAM1 interactions" } ], "orthologs": [ { "uniprot_canonical_ac": "D4A055-2", "protein_name": "Voltage-dependent L-type calcium channel subunit beta-4", "gene_name": "Cacnb4", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MSSSYAKNGAADGPHSPSSQVARGTTTRRSRLKRSDGSTTSTSFILRQGSADSYTSRPSDSDVSLEEDREAIRQEREQQAAIQLERAKSKPVAFAVKTNVSYCGALDEDVPVPSTAISFDAKDFLHIKEKYNNDWWIGRLVKEGCEIGFIPSPLRLENIRIQQEQKRGRFHGGKSSGNSSSSLGEMVSGTFRATPTTTAKQKQKVTEHIPPYDVVPSMRPVVLVGPSLKGYEVTDMMQKALFDFLKHRFDGRISITRVTADISLAKRSVLNNPSKRAIIERSNTRSSLAEVQSEIERIFELARSLQLVVLDADTINHPAQLIKTSLAPIIVHVKVSSPKVLQRLIKSRGKSQSKHLNVQLVAADKLAQCPPEMFDVILDENQLEDACEHLGEYLEAYWRATHTSSSTPMTPLLGRNVGSTALSPYPTAISGLQSQRMRHSNHSTENSPIERRSLMTSDENYHNERARKSRNRLSSSSQHSRDHYPLVEEDYPDSYQDTYKPHRNRGSPGGCSHDSRHRL", "length": 519 }, "evidence": [ { "id": "45921995", "url": "http://www.informatics.jax.org/homology/45921995", "database": "MGI" }, { "id": "O00305", "url": "https://omabrowser.org/oma/group/O00305/", "database": "OMA" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q8R0S4-3", "protein_name": "Voltage-dependent L-type calcium channel subunit beta-4", "gene_name": "Cacnb4", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MSSSYGKNGAADGPHSPSSQVARGTTTRRSRLKRSDGSTTSTSFILRQGSADSYTSRPSDSDVSLEEDREAIRQEREQQAAIQLERAKSKPVAFAVKTNVSYCGALDEDVPVPSTAISFDAKDFLHIKEKYNNDWWIGRLVKEGCEIGFIPSPLRLENIRIQQEQKRGRFHGGKSSGNSSSSLGEMVSGTFRATPTTTAKQKQKVTEHIPPYDVVPSMRPVVLVGPSLKGYEVTDMMQKALFDFLKHRFDGRISITRVTADISLAKRSVLNNPSKRAIIERSNTRSSLAEVQSEIERIFELARSLQLVVLDADTINHPAQLIKTSLAPIIVHVKVSSPKVLQRLIKSRGKSQSKHLNVQLVAADKLAQCPPEMFDVILDENQLEDACEHLGEYLEAYWRATHTSSSTPMTPLLGRNVGSTALSPYPTAISGLQSQRMRHSNHSTENSPIERRSLMTSDENYHNERARKSRNRLSSSSQHSRDHYPLVEEDYPDSYQDTYKPHRNRGSPGGCSHDSRHRL", "length": 519 }, "evidence": [ { "id": "45921995", "url": "http://www.informatics.jax.org/homology/45921995", "database": "MGI" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 3, "go_terms": [ { "name": "voltage-gated calcium channel activity", "id": "GO:0005245", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005245", "evidence": [ { "database": "UniProtKB", "id": "O00305", "url": 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"O00305", "url": "https://www.uniprot.org/uniprot/O00305" } ], "pmid": "" }, { "name": "cytoplasmic side of plasma membrane", "id": "GO:0009898", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009898", "evidence": [ { "database": "UniProtKB", "id": "O00305", "url": "https://www.uniprot.org/uniprot/O00305" } ], "pmid": "" }, { "name": "presynapse", "id": "GO:0098793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098793", "evidence": [ { "database": "UniProtKB", "id": "O00305", "url": "https://www.uniprot.org/uniprot/O00305" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 20, "go_terms": [ { "name": "cAMP metabolic process", "id": "GO:0046058", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046058", "evidence": [ { "database": "UniProtKB", "id": "O00305", "url": "https://www.uniprot.org/uniprot/O00305" } ], "pmid": "" }, { "name": "neuromuscular junction development", "id": "GO:0007528", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007528", "evidence": [ { "database": "UniProtKB", "id": "O00305", "url": "https://www.uniprot.org/uniprot/O00305" } ], "pmid": "" }, { "name": "negative regulation of cell population proliferation", "id": "GO:0008285", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008285", "evidence": [ { "database": "UniProtKB", "id": "O00305", "url": "https://www.uniprot.org/uniprot/O00305" } ], "pmid": "" }, { "name": "gamma-aminobutyric acid signaling pathway", "id": "GO:0007214", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007214", "evidence": [ { "database": "UniProtKB", "id": "O00305", "url": "https://www.uniprot.org/uniprot/O00305" } ], "pmid": "" }, { "name": "chemical synaptic transmission", "id": "GO:0007268", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007268", "evidence": [ { "database": "UniProtKB", "id": "O00305", "url": "https://www.uniprot.org/uniprot/O00305" } ], "pmid": "" }, { "name": "synaptic transmission, glutamatergic", "id": "GO:0035249", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035249", "evidence": [ 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