{ "uniprot_canonical_ac": "O95163-1", "uniprot_ac": "O95163", "uniprot_id": "ELP1_HUMAN", "mass": { "chemical_mass": 150254.0, "monoisotopic_mass": 150254.0 }, "refseq": { "ac": "NP_001305289", "name": "elongator complex protein 1 isoform 2", "summary": "The protein encoded by this gene is a scaffold protein and a regulator for three different kinases involved in proinflammatory signaling. The encoded protein can bind NF-kappa-B-inducing kinase and I-kappa-B kinases through separate domains and assemble them into an active kinase complex. Mutations in this gene have been associated with familial dysautonomia. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305289" }, "gene_names": [ { "name": "ELP1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O95163", "id": "O95163" }, { "name": "DYS; FD; IKAP; IKBKAP; IKI3; TOT1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305289", "id": "NP_001305289" }, { "name": "ELP1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305289", "id": "NP_001305289" }, { "name": "IKAP", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O95163", "id": "O95163" }, { "name": "IKBKAP", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O95163", "id": "O95163" } ], "protein_names": [ { "name": "Elongator complex protein 1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O95163" }, { "name": "ELP1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95163" }, { "name": "IKK complex-associated protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95163" }, { "name": "IkappaB kinase complex-associated protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95163" }, { "name": "elongator complex protein 1 isoform 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305289", "id": "NP_001305289" }, { "name": "ikappaB kinase complex-associated protein; inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein; IKK complex-associated protein; elongator complex protein 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305289", "id": "NP_001305289" }, { "name": "p150", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95163" } ], "function": [ { "annotation": "A secondary assay that measures ELP1 splicing in FD patient-derived fibroblasts.", "evidence": [ { "database": "RefSeq", "id": "NP_001305289", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305289" }, { "database": "PubMed", "id": "30085848", "url": "https://glygen.org/publication/PubMed/30085848" } ] }, { "annotation": "Component of the elongator complex which is required for multiple tRNA modifications, including mcm5U (5-methoxycarbonylmethyl uridine), mcm5s2U (5-methoxycarbonylmethyl-2-thiouridine), and ncm5U (5-carbamoylmethyl uridine). The elongator complex catalyzes formation of carboxymethyluridine in the wobble base at position 34 in tRNAs.", "evidence": [ { "database": "UniProtKB", "id": "A0A6Q8PG86", "url": "https://www.uniprot.org/uniprot/A0A6Q8PG86#function" }, { "database": "UniProtKB", "id": "PIRNR017233", "url": "https://www.uniprot.org/uniprot/PIRNR017233#function" }, { "database": "UniProtKB", "id": "A0A6Q8PF66", "url": "https://www.uniprot.org/uniprot/A0A6Q8PF66#function" }, { "database": "UniProtKB", "id": "A0A6Q8PEX6", "url": "https://www.uniprot.org/uniprot/A0A6Q8PEX6#function" }, { "database": "UniProtKB", "id": "A0A6Q8PHC9", "url": "https://www.uniprot.org/uniprot/A0A6Q8PHC9#function" }, { "database": "UniProtKB", "id": "A0A6Q8PHF4", "url": "https://www.uniprot.org/uniprot/A0A6Q8PHF4#function" }, { "database": "UniProtKB", "id": "A0A6Q8PHI5", "url": "https://www.uniprot.org/uniprot/A0A6Q8PHI5#function" }, { "database": "UniProtKB", "id": "A0A6Q8PFH9", "url": "https://www.uniprot.org/uniprot/A0A6Q8PFH9#function" }, { "database": "UniProtKB", "id": "A0A6Q8PGW3", "url": "https://www.uniprot.org/uniprot/A0A6Q8PGW3#function" }, { "database": "UniProtKB", "id": "O95163", "url": "https://www.uniprot.org/uniprot/O95163#function" }, { "database": "PubMed", "id": "9751059", "url": "https://glygen.org/publication/PubMed/9751059" }, { "database": "UniProtKB", "id": "Q7TT37", "url": "https://www.uniprot.org/uniprot/Q7TT37#function" }, { "database": "PubMed", "id": "29332244", "url": "https://glygen.org/publication/PubMed/29332244" }, { "database": "UniProtKB", "id": "Q06706", "url": "https://www.uniprot.org/uniprot/Q06706#function" }, { "database": "UniProtKB", "id": "A0A6Q8PFB7", "url": "https://www.uniprot.org/uniprot/A0A6Q8PFB7#function" } ] }, { "annotation": "Postnatal correction of the underlying ELP1 splicing defect can rescue devastating disease phenotypes in a humanized ELP1 mouse model", "evidence": [ { "database": "RefSeq", "id": "NP_001305289", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305289" }, { "database": "PubMed", "id": "30905397", "url": "https://glygen.org/publication/PubMed/30905397" } ] }, { "annotation": "The authors identified two potentially functional single nucleotide polymorphisms (IKBKAP rs4978754 C > T and TNFRSF1B rs677844 T > C) to be associated with survival of patients with non-small cell lung cancer.", "evidence": [ { "database": "RefSeq", "id": "NP_001305289", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305289" }, { "database": "PubMed", "id": "30989732", "url": "https://glygen.org/publication/PubMed/30989732" } ] }, { "annotation": "The protein encoded by this gene is a scaffold protein and a regulator for three different kinases involved in proinflammatory signaling. The encoded protein can bind NF-kappa-B-inducing kinase and I-kappa-B kinases through separate domains and assemble them into an active kinase complex. Mutations in this gene have been associated with familial dysautonomia. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016].", "evidence": [ { "database": "RefSeq", "id": "NP_001305289", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305289" } ] }, { "annotation": "Tumours from patients with ELP1-associated medulloblastoma subgroup Sonic Hedgehog were characterized by a destabilized Elongator complex, loss of Elongator-dependent tRNA modifications, codon-dependent translational reprogramming", "evidence": [ { "database": "RefSeq", "id": "NP_001305289", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305289" }, { "database": "PubMed", "id": "32296180", "url": "https://glygen.org/publication/PubMed/32296180" } ] } ], "disease": [ { "disease_id": "DOID:0050902", "recommended_name": { "id": "DOID:0050902", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050902", "name": "medulloblastoma", "description": "An infratentorial cancer that is located_in the lower part of the brain and is a type of primitive neuroectodermal tumor." }, "synonyms": [ { "id": "DOID:0050902", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050902", "name": "CNS PNET", "description": "" }, { "id": "DOID:0050902", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050902", "name": "CPNET", "description": "" }, { "id": "DOID:0050902", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050902", "name": "brain medulloblastoma", "description": "" }, { "id": "DOID:0050902", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050902", "name": "infratentorial primitive neuroectodermal tumor", "description": "" }, { "id": "DOID:0050902", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050902", "name": "localized primitive neuroectodermal tumor", "description": "" }, { "id": "DOID:0050902", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050902", "name": "Medulloblastoma, histologically defined", "description": "" }, { "id": "MONDO:0007959", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007959", "name": "medulloblastoma", "description": "A malignant, invasive embryonal neoplasm arising from the cerebellum. It occurs predominantly in children and has the tendency to metastasize via the cerebrospinal fluid pathways. Signs and symptoms include truncal ataxia, disturbed gait, lethargy, headache, and vomiting. There are four histologic variants: classic medulloblastoma, large cell/anaplastic medulloblastoma, desmoplastic/nodular medulloblastoma, and medulloblastoma with extensive nodularity." }, { "id": "MONDO:0007959", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007959", "name": "brain medulloblastoma", "description": "" }, { "id": "MONDO:0007959", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007959", "name": "cerebellar medulloblastoma", "description": "" }, { "id": "MONDO:0007959", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007959", "name": "cerebellum embryonal neoplasm", "description": "" }, { "id": "MONDO:0007959", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007959", "name": "medulloblastoma", "description": "" }, { "id": "MONDO:0007959", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007959", "name": "medulloblastoma, autosomal recessive, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0007959", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007959", "name": "medulloblastoma, desmoplastic, autosomal recessive, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0007959", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007959", "name": "medulloblastoma, malignant", "description": "" }, { "id": "MONDO:0007959", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007959", "name": "medulloblastoma, somatic", "description": "" }, { "id": "MONDO:0007959", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007959", "name": "medulloblastomas", "description": "" }, { "id": "MONDO:0007959", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007959", "name": "CNS PNET", "description": "" }, { "id": "MONDO:0007959", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007959", "name": "CPNET", "description": "" }, { "id": "MONDO:0007959", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007959", "name": "MDB", "description": "" }, { "id": "MONDO:0007959", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007959", "name": "infratentorial primitive neuroectodermal tumor", "description": "" }, { "id": "MONDO:0007959", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007959", "name": "infratentorial primitive neuroectodermal tumour", "description": "" }, { "id": "MONDO:0007959", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007959", "name": "localised primitive neuroectodermal tumour", "description": "" }, { "id": "MONDO:0007959", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007959", "name": "localized primitive neuroectodermal tumor", "description": "" }, { "id": "MONDO:0007959", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007959", "name": "medulloblastoma with extensive nodularity", "description": "" }, { "id": "MONDO:0007959", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007959", "name": "medulloblastoma, desmoplastic", "description": "" }, { "id": "MIM:155255", "resource": "MIM", "url": "https://www.omim.org/entry/155255", "name": "Medulloblastoma", "description": "Medulloblastoma" } ], "evidence": [ { "id": "155255", "database": "MIM", "url": "https://www.omim.org/entry/155255" } ] }, { "disease_id": "DOID:11589", "recommended_name": { "id": "DOID:11589", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11589", "name": "Riley-Day syndrome", "description": "A hereditary sensory neuropathy that is characterized by gastrointestinal dysfunction, gastroesophageal reflux, vomiting crises, recurrent pneumonia, seizures, gait abnormalities with loss of ambulation, kyphoscoliosis, postural hypotension, hypertension crises, absence of fungiform papillae on the tongue, decreased deep tendon reflexes, defective lacrimation, and impaired pain and temperature perception and has_material_basis_in homozygous or compound heterozygous mutation in the IKBKAP gene (ELP1) on chromosome 9q31." }, "synonyms": [ { "id": "DOID:11589", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11589", "name": "HSAN III", "description": "" }, { "id": "DOID:11589", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11589", "name": "familial autonomic nervous dysfunction", "description": "" }, { "id": "DOID:11589", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11589", "name": "familial dysautonomia", "description": "" }, { "id": "MONDO:0009131", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009131", "name": "Riley-Day syndrome", "description": "A congenital disorder caused by mutations in the IKBKAP gene. It is characterized by damage of the sympathetic and parasympathetic and sensory nervous system." }, { "id": "MONDO:0009131", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009131", "name": "HSAN 3", "description": "" }, { "id": "MONDO:0009131", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009131", "name": "HSAN III", "description": "" }, { "id": "MONDO:0009131", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009131", "name": "HSAN3", "description": "" }, { "id": "MONDO:0009131", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009131", "name": "Riley-Day syndrome", "description": "" }, { "id": "MONDO:0009131", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009131", "name": "familial dysautonomia", "description": "" }, { "id": "MONDO:0009131", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009131", "name": "hereditary sensory and autonomic neuropathy type 3", "description": "" }, { "id": "MONDO:0009131", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009131", "name": "hereditary sensory and autonomic neuropathy type III", "description": "" }, { "id": "MONDO:0009131", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009131", "name": "neuropathy, hereditary sensory and autonomic, type III", "description": "" }, { "id": "MONDO:0009131", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009131", "name": "HSN 3", "description": "" }, { "id": "MONDO:0009131", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009131", "name": "Riley Day syndrome", "description": "" }, { "id": "MONDO:0009131", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009131", "name": "dysautonomia, familial", "description": "" }, { "id": "MONDO:0009131", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009131", "name": "familial autonomic nervous dysfunction", "description": "" }, { "id": "MONDO:0009131", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009131", "name": "hereditary sensory and autonomic neuropathy 3", "description": "" }, { "id": "MONDO:0009131", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009131", "name": "hereditary sensory neuropathy type 3", "description": "" }, { "id": "MONDO:0009131", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009131", "name": "neuropathy, hereditary sensory and autonomic, type 3", "description": "" }, { "id": "MIM:223900", "resource": "MIM", "url": "https://www.omim.org/entry/223900", "name": "Neuropathy, hereditary sensory and autonomic, 3", "description": "Neuropathy, hereditary sensory and autonomic, 3" } ], "evidence": [ { "id": "223900", "database": "MIM", "url": "https://www.omim.org/entry/223900" } ] } ], "snv": [], "mutagenesis": [ { "start_pos": 1011, "end_pos": 1011, "sequence_org": "R", "sequence_mut": "A", "comment": "Disruption of dimer formation, reduced protein stability and reduced interaction with ELP2 and ELP3. Does not affect binding to tRNA.", "evidence": [ { "database": "UniProtKB", "id": "O95163", "url": "https://www.uniprot.org/uniprot/O95163" }, { "database": "PubMed", "id": "26261306", "url": "https://glygen.org/publication/PubMed/26261306" } ] } ], "expression_tissue": [], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O95163", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95163" } ], "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", 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"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": 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"resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL 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"name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, 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"http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - 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", 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"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 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"MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "O95163", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95163" } ], "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O95163", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95163" } ], "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": "O95163", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95163" } ], "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": "O95163", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95163" } ], "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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"name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O95163", "url": "https://www.uniprot.org/uniprot/O95163" } ], "common_name": "Human" } ], "gene": [ { "name": "ELP1", "url": "https://www.uniprot.org/uniprot/O95163", "locus": { "chromosome": "9", "start_pos": 108866898, "end_pos": 108934328, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000070061", "url": "https://www.ensembl.org/id/ENSG00000070061" } ] } } ], "crossref": [ { "id": "ENSG00000070061", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000070061", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "ELP1", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=ELP1", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "8518", "url": "https://www.ncbi.nlm.nih.gov/gene/8518", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "5959", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=5959", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "O95163", "url": "https://www.ebi.ac.uk/intact/interactors/id:O95163*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR006849", "url": "https://www.ebi.ac.uk/interpro/entry/IPR006849", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR015943", "url": "https://www.ebi.ac.uk/interpro/entry/IPR015943", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:8518", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:8518", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "155255", "url": "http://www.omim.org/entry/155255", "database": "MIM", "categories": [ "Other" ] }, { "id": "223900", "url": "http://www.omim.org/entry/223900", "database": "MIM", "categories": [ "Other" ] }, { "id": "603722", "url": "http://www.omim.org/entry/603722", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O95163", "url": "https://www.nextprot.org/entry/NX_O95163", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "O95163", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O95163", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "WRESLYC", "url": "https://omabrowser.org/oma/group/WRESLYC/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "316709at2759", "url": "http://www.orthodb.org/?query=316709at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR12747", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR12747", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR12747:SF0", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR12747:SF0", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "5CQR", "url": "https://www.rcsb.org/structure/5CQR", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF04762", "url": "http://pfam.xfam.org/family/PF04762", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O95163", "url": "https://pharos.nih.gov/targets/O95163", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O95163", "url": "http://purl.obolibrary.org/obo/PR_O95163", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-3214847", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3214847", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_001305289", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305289", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "A0A6Q8PEX6", "url": "https://www.uniprot.org/uniprot/A0A6Q8PEX6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PEX6-1", "url": "https://www.uniprot.org/uniprot/A0A6Q8PEX6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PF66", "url": "https://www.uniprot.org/uniprot/A0A6Q8PF66", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PF66-1", "url": "https://www.uniprot.org/uniprot/A0A6Q8PF66-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PF69", "url": "https://www.uniprot.org/uniprot/A0A6Q8PF69", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PF69-1", "url": "https://www.uniprot.org/uniprot/A0A6Q8PF69-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PFB7", "url": "https://www.uniprot.org/uniprot/A0A6Q8PFB7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PFB7-1", "url": "https://www.uniprot.org/uniprot/A0A6Q8PFB7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PFC8", "url": "https://www.uniprot.org/uniprot/A0A6Q8PFC8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PFC8-1", "url": "https://www.uniprot.org/uniprot/A0A6Q8PFC8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PFH9", "url": "https://www.uniprot.org/uniprot/A0A6Q8PFH9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PFH9-1", "url": "https://www.uniprot.org/uniprot/A0A6Q8PFH9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PFN8", "url": "https://www.uniprot.org/uniprot/A0A6Q8PFN8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PFN8-1", "url": "https://www.uniprot.org/uniprot/A0A6Q8PFN8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PFX1", "url": "https://www.uniprot.org/uniprot/A0A6Q8PFX1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PFX1-1", "url": "https://www.uniprot.org/uniprot/A0A6Q8PFX1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PG86", "url": "https://www.uniprot.org/uniprot/A0A6Q8PG86", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PG86-1", "url": "https://www.uniprot.org/uniprot/A0A6Q8PG86-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PGA6", "url": "https://www.uniprot.org/uniprot/A0A6Q8PGA6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PGA6-1", "url": "https://www.uniprot.org/uniprot/A0A6Q8PGA6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PGC4", "url": "https://www.uniprot.org/uniprot/A0A6Q8PGC4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PGC4-1", "url": "https://www.uniprot.org/uniprot/A0A6Q8PGC4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PGR0", "url": "https://www.uniprot.org/uniprot/A0A6Q8PGR0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PGR0-1", "url": "https://www.uniprot.org/uniprot/A0A6Q8PGR0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PGW3", "url": "https://www.uniprot.org/uniprot/A0A6Q8PGW3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PGW3-1", "url": "https://www.uniprot.org/uniprot/A0A6Q8PGW3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PH36", "url": "https://www.uniprot.org/uniprot/A0A6Q8PH36", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PH36-1", "url": "https://www.uniprot.org/uniprot/A0A6Q8PH36-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PH48", "url": "https://www.uniprot.org/uniprot/A0A6Q8PH48", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PH48-1", "url": "https://www.uniprot.org/uniprot/A0A6Q8PH48-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PHA0", "url": "https://www.uniprot.org/uniprot/A0A6Q8PHA0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PHA0-1", "url": "https://www.uniprot.org/uniprot/A0A6Q8PHA0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PHC9", "url": "https://www.uniprot.org/uniprot/A0A6Q8PHC9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PHC9-1", "url": "https://www.uniprot.org/uniprot/A0A6Q8PHC9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PHF4", "url": "https://www.uniprot.org/uniprot/A0A6Q8PHF4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PHF4-1", "url": "https://www.uniprot.org/uniprot/A0A6Q8PHF4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PHI5", "url": "https://www.uniprot.org/uniprot/A0A6Q8PHI5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PHI5-1", "url": "https://www.uniprot.org/uniprot/A0A6Q8PHI5-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F5H2T0", "url": "https://www.uniprot.org/uniprot/F5H2T0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F5H2T0-1", "url": "https://www.uniprot.org/uniprot/F5H2T0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YDF3", "url": "https://www.uniprot.org/uniprot/H0YDF3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YDF3-1", "url": "https://www.uniprot.org/uniprot/H0YDF3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O95163", "url": "https://www.uniprot.org/uniprot/O95163", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O95163-1", "url": "https://www.uniprot.org/uniprot/O95163-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MRNLKLFRTLEFRDIQGPGNPQCFSLRTEQGTVLIGSEHGLIEVDPVSREVKNEVSLVAEGFLPEDGSGRIVGVQDLLDQESVCVATASGDVILCSLSTQQLECVGSVASGISVMSWSPDQELVLLATGQQTLIMMTKDFEPILEQQIHQDDFGESKFITVGWGRKETQFHGSEGRQAAFQMQMHESALPWDDHRPQVTWRGDGQFFAVSVVCPETGARKVRVWNREFALQSTSEPVAGLGPALAWKPSGSLIASTQDKPNQQDIVFFEKNGLLHGHFTLPFLKDEVKVNDLLWNADSSVLAVWLEDLQREESSIPKTCVQLWTVGNYHWYLKQSLSFSTCGKSKIVSLMWDPVTPYRLHVLCQGWHYLAYDWHWTTDRSVGDNSSDLSNVAVIDGNRVLVTVFRQTVVPPPMCTYQLLFPHPVNQVTFLAHPQKSNDLAVLDASNQISVYKCGDCPSADPTVKLGAVGGSGFKVCLRTPHLEKRYKIQFENNEDQDVNPLKLGLLTWIEEDVFLAVSHSEFSPRSVIHHLTAASSEMDEEHGQLNVSSSAAVDGVIISLCCNSKTKSVVLQLADGQIFKYLWESPSLAIKPWKNSGGFPVRFPYPCTQTELAMIGEEECVLGLTDRCRFFINDIEVASNITSFAVYDEFLLLTTHSHTCQCFCLRDASFKTLQAGLSSNHVSHGEVLRKVERGSRIVTVVPQDTKLVLQMPRGNLEVVHHRALVLAQIRKWLDKLMFKEAFECMRKLRINLNLIYDHNPKVFLGNVETFIKQIDSVNHINLFFTELKEEDVTKTMYPAPVTSSVYLSRDPDGNKIDLVCDAMRAVMESINPHKYCLSILTSHVKKTTPELEIVLQKVHELQGNAPSDPDAVSAEEALKYLLHLVDVNELYDHSLGTYDFDLVLMVAEKSQKDPKEYLPFLNTLKKMETNYQRFTIDKYLKRYEKAIGHLSKCGPEYFPECLNLIKDKNLYNEALKLYSPSSQQYQDISIAYGEHLMQEHMYEPAGLMFARCGAHEKALSAFLTCGNWKQALCVAAQLNFTKDQLVGLGRTLAGKLVEQRKHIDAAMVLEECAQDYEEAVLLLLEGAAWEEALRLVYKYNRLDIIETNVKPSILEAQKNYMAFLDSQTATFSRHKKRLLVVRELKEQAQQAGLDDEVPHGQESDLFSETSSVVSGSEMSGKYSHSNSRISARSSKNRRKAERKKHSLKEGSPLEDLALLEALSEVVQNTENLKDEVYHILKVLFLFEFDEQGRELQKAFEDTLQLMERSLPEIWTLTYQQNSATPVLGPNSTANSIMASYQQQKTSVPVLDAELFIPPKINRRTQWKLSLLD", "length": 1332, "header": "sp|O95163-1|ELP1_HUMAN Isoform 1 of Elongator complex protein 1 OS=Homo sapiens OX=9606 GN=ELP1 PE=1 SV=3 CANONICAL=O95163-1" }, "isoforms": [ { "isoform_ac": "A0A6Q8PEX6-1", "url": "", "sequence": { "sequence": "MRNLKLFRTLEFRDIQGPGNPQCFSLRTEQGTVLIGSEHGLIEVDPVSREVKNEVSLVAEGFLPEDGSGRIVGVQDLLDQESVCVATASGDVILCSLSTQQLECVGSVASGISVMSWSPDQELVLLATGQQTLIMMTKDFEPILEQQIHQDDFGESKFITVGWGRKETQFHGSEGRQAAFQMQMHESALPWDDHRPQVTWRGDGQFFAVSVVCPETGARKVRVWNREFALQSTSEPVAGLGPALAWKPSGSLIASTQDKPNQQDIVFFEKNGLLHGHFTLPFLKDEVKVNDLLWNADSSVLAVWLEDLQREESSIPKTCVQLWTVGNYHWYLKQSLSFSTCGKSKIVSLMWDPVTPYRLHVLCQGWHYLAYDWHWTTDRSVGDNSSDLSNVAVIDGNRVLVTVFRQTVVPPPMCTYQLLFPHPVNQVTFLAHPQKSNDLAVLDASNQISVYKCGDCPSADPTVKLGAVGGSGFKVCLRTPHLEKRYKIQFENNEDQDVNPLKLGLLTWIEEDVFLAVSHSEFSPRSVIHHLTAASSEMDEEHGQLNVSSSAAVDGVIISLCCNSKTKSVVLQLADGQIFKYLWESPSLAIKPWKNSGGFPVRFPYPCTQTELAMIGEEECVLGLTDRCRFFINDIEVASNITSFAVYDEFLLLTTHSHTCQCFCLRDASFKTLQAGLSSNHVSHGEVLRKVERGSRIVTVVPQDTKLVLQMPRGNLEVVHHRALVLAQIRKWLDKLMFKEAFECMRKLRINLNLIYDHNPKVFLGNVETFIKQIDSVNHINLFFTELKEEDVTKTMYPAPVTSSVYLSRDPDGNKIDLVCDAMRAVMESINPHKYCLSILTSHVKKTTPELEIVLQKVHELQGNAPSDPDAVSAEEALKYLLHLVDVNELYDHSLGTYDFDLVLMVAEKSQKDPKEYLPFLNTLKKMETNYQRFTIDKYLKRYEKAIGHLSKCGPEYFPECLNLIKDKNLYNEALKLYSPSSQQYQDISIAYGEHLMQEHMYEPAGLMFARCGAHEKALSAFLTCGNWKQALCVAAQLNFTKDQLVGLGRTLAGKLVEQRKHIDAAMVLEECAQDYEEAVLLLLEGAAWEEALRLVYKYNRLDIIETNVKPSILEAQKNYMAFLDSQTATFSRHKKRLLVVRELKEQAQQAGLDDEVPHGQESDLFSETSSVVSGSEMSGKYSHSNSRISARSSKNRRKAERKKHSLKEGSPLEDLALLEALSEVVQNTENLKDEVYHILKVLFLFEFDEQGRELQKAFEDTLQLMERSLPEIWTLTYQQNSATPTWGEGVLLCCPSWS", "length": 1299, "header": "tr|A0A6Q8PEX6-1|ELP1_HUMAN Computationally mapped isoform of Elongator complex protein 1 OS=Homo sapiens OX=9606 GN=ELP1 PE=1 SV=1 CANONICAL=O95163-1" }, "locus": { "chromosome": "9", "start_pos": 108931146, "end_pos": 108875694, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000675078.1", "url": "https://www.ensembl.org/id/ENST00000675078.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000501549.1", "url": "https://www.ensembl.org/id/ENSP00000501549.1" } ] } }, { "isoform_ac": "A0A6Q8PF66-1", "url": "", "sequence": { "sequence": "MSWSPDQELVLLATGQQTLIMMTKDFEPILEQQIHQDDFGESKFITVGWGRKETQFHGSEGRQAAFQMQMHESALPWDDHRPQVTWRGDGQFFAVSVVCPETGARKVRVWNREFALQSTSEPVAGLGPALAWKPSGSLIASTQDKPNQQDIVFFEKNGLLHGHFTLPFLKDEVKVNDLLWNADSSVLAVWLEDLQREESSIPKTCVQLWTVGNYHWYLKQSLSFSTCGKSKIVSLMWDPVTPYRLHVLCQGWHYLAYDWHWTTDRSVGDNSSDLSNVAVIDGNRVLVTVFRQTVVPPPMCTYQLLFPHPVNQVTFLAHPQKSNDLAVLDASNQISVYKCGDCPSADPTVKLGAVGGSGFKVCLRTPHLEKRYKIQFENNEDQDVNPLKLGLLTWIEEDVFLAVSHSEFSPRSVIHHLTAASSEMDEEHGQLNVSSSAAVDGVIISLCCNSKTKSVVLQLADGQIFKYLWESPSLAIKPWKNSGGFPVRFPYPCTQTELAMIGEEECVLGLTDRCRFFINDIEVASNITSFAVYDEFLLLTTHSHTCQCFCLRDASFKTLQAGLSSNHVSHGEVLRKVERGSRIVTVVPQDTKLVLQMPRGNLEVVHHRALVLAQIRKWLDKLMFKEAFECMRKLRINLNLIYDHNPKVFLGNVETFIKQIDSVNHINLFFTELKEEDVTKTMYPAPVTSSVYLSRDPDGNKIDLVCDAMRAVMESINPHKYCLSILTSHVKKTTPELEIVLQKVHELQGNAPSDPDAVSAEEALKYLLHLVDVNELYDHSLGTYDFDLVLMVAEKSQKDPKEYLPFLNTLKKMETNYQRFTIDKYLKRYEKAIGHLSKCGPEYFPECLNLIKDKNLYNEALKLYSPSSQQYQDISIAYGEHLMQEHMYEPAGLMFARCGAHEKALSAFLTCGNWKQALCVAAQLNFTKDQLVGLGRTLAGKLVEQRKHIDAAMVLEECAQDYEEAVLLLLEGAAWEEALRLVYKYNRLDIIETNVKPSILEGEGSILDRIPHLEEAQKNYMAFLDSQTATFSRHKKRLLVVRELKEQAQQAGLDDEVPHGQESDLFSETSSVVSGSEMSGKYSHSNSRISARSSKNRRKAERKKHSLKEGSPLEDLALLEALSEVVQNTENLKDEVYHILKVLFLFEFDEQGRELQKAFEDTLQLMERSLPEIWTLTYQQNSATPVLGPNSTANSIMASYQQQKTSVPVLDAELFIPPKINRRTQWKLSLLD", "length": 1232, "header": "tr|A0A6Q8PF66-1|ELP1_HUMAN Computationally mapped isoform of Elongator complex protein 1 OS=Homo sapiens OX=9606 GN=ELP1 PE=1 SV=1 CANONICAL=O95163-1" }, "locus": { "chromosome": "9", "start_pos": 108927414, "end_pos": 108869118, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000676416.1", "url": "https://www.ensembl.org/id/ENST00000676416.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000501660.1", "url": "https://www.ensembl.org/id/ENSP00000501660.1" } ] } }, { "isoform_ac": "A0A6Q8PF69-1", "url": "", "sequence": { "sequence": "MRNLKLFRTLEFRDIQGPGNPQCFSLRTEQGTVLIGSEHGLIEVDPVSREVKNEVSLVAEGFLPEDGSGRIVGVQDLLDQESVCVATASGDVILCSLSTQQLECVGSVASGISVMSWSPDQELVLLATGQQTLIMMTKDFEPILEQQIHQDDFGESKFITVGWGRKETQFHGSEGRQAAFQMQMHESALPWDDHRPQVTWRGDGQFFAVSVVCPETGARKVRVWNREFALQSTSEPVAGLGPALAWKPSGSLIASTQDKPNQQDIVFFEKNGLLHGHFTLPFLKDEVKVNDLLWNADSSVLAVWLEDLQREESSIPKTCVQLWTVGNYHWYLKQSLSFSTCGKSKIVSLMWDPVTPYRLHVLCQGWHYLAYDWHWTTDRSVGDNSSDLSNVAVIDGNRVLVTVFRQTVVPPPMCTYQLLFPHPVNQVTFLAHPQKSNDLAVLDASNQISVYKCGDCPSADPTVKLGAVGGSGFKVCLRTPHLEKRYKIQFENNEDQDVNPLKLGLLTWIEEDVFLAVSHSEFSPRSVIHHLTAASSEMDEEHGQLNVSSSAAVDGVIISLCCNSKTKSVVLQLADGQIFKYLWESPSLAIKPWKNSGGFPVRFPYPCTQTELAMIGEEECVLGLTDRCRFFINDIEVASNITSFAVYDEFLLLTTHSHTCQCFCLRDASFKTLQAGLSSNHVSHGEVLRKVERGSRIVTVVPQDTKLVLQMPRGNLEVVHHRALVLAQIRKWLDKLMFKEAFECMRKLRINLNLIYDHNPKVFLGNVETFIKQIDSVNHINLFFTELKRRCHEDHVPCTSYQQCLPVQGS", "length": 810, "header": "tr|A0A6Q8PF69-1|ELP1_HUMAN Computationally mapped isoform of Elongator complex protein 1 OS=Homo sapiens OX=9606 GN=ELP1 PE=1 SV=1 CANONICAL=O95163-1" }, "locus": { "chromosome": "9", "start_pos": 108931146, "end_pos": 108897217, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000675535.1", "url": "https://www.ensembl.org/id/ENST00000675535.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000501667.1", "url": "https://www.ensembl.org/id/ENSP00000501667.1" } ] } }, { "isoform_ac": "A0A6Q8PFB7-1", "url": "", "sequence": { "sequence": "MRNLKLFRTLEFRDIQGPGNPQCFSLRTEQGTVLIGSEHGLIEVDPVSREVKNEVSLVAEGFLPEDGSGRIVGVQDLLDQESVCVATASGDVILCSLSTQQLECVGSVASGISVMSWSPDQELVLLATGQQTLIMMTKDFEPILEQQIHQDDFGESKFITVGWGRKETQFHGSEGRQAAFQMQMHESALPWDDHRPQVTWRGDGQFFAVSVVCPETGARKVRVWNREFALQSTSEPVAGLGPALAWKPSGSLIASTQDKPNQQDIVFFEKNGLLHGHFTLPFLKDEVKVNDLLWNADSSVLAVWLEDLQREESSIPKTCVQLWTVGNYHWYLKQSLSFSTCGKSKIVSLMWDPVTPYRLHVLCQGWHYLAYDWHWTTDRSVGDNSSDLSNVAVIDGNRVLVTVFRQTVVPPPMCTYQLLFPHPVNQVTFLAHPQKSNDLAVLDASNQISVYKCGDCPSADPTVKLGAVGGSGFKVCLRTPHLEKRYKIQFENNEDQDVNPLKLGLLTWIEEDVFLAVSHSEFSPRSVIHHLTAASSEMDEEHGQLNVSSSAAVDGVIISLCCNSKTKSVVLQLADGQIFKYLWESPSLAIKPWKNSGGFPVRFPYPCTQTELAMIGEEECVLGLTDRCRFFINDIEVASNITSFAVYDEFLLLTTHSHTCQCFCLRDASFKTLQAGLSSNHVSHGEVLRKVERGSRIVTVVPQDTKLVLQMPRGNLEVVHHRALVLAQIRKWLDKLMFKEAFECMRKLRINLNLIYDHNPKVFLGNVETFIKQIDSVNHINLFFTELKEEDVTKTMYPAPVTSSVYLSRDPDGNKIDLVCDAMRAVMESINPHKYCLSILTSHVKKTTPELEIVLQKVHELQGNAPSDPDAVSAEEALKYLLHLVDVNELYDHSLGTYDFDLVLMVAEKSQKDPKEYLPFLNTLKKMETNYQRFTIDKYLKRYEKAIGHLSKCGPEYFPECLNLIKDKNLYNEALKLYSPSSQQYQDISIAYGEHLMQEHMYEPAGLMFARCGAHEKALSAFLTCGNWKQALCVAAQLNFTKDQLVGLGRTLAGKLVEQRKHIDAAMVLEECAQDYEEAVLLLLEGAAWEEALRLVYKYNRLDIIETNVKPSILEAQKNYMAFLDSQTATFSRHKKRLLVVRELKEQAQQAGLDDEVPHGQESDLFSETSSVVSGSEMSGKYSHSNSRISARSSKNRRKAERKKHSLKEGSPLEDLALLEALSEVVQNTENLKDEVYHILKVLFLFEFDEQGRELQKAFEDTLQLMERSLPEIWTLTYQQNSATPVKWTVIFLSG", "length": 1295, "header": "tr|A0A6Q8PFB7-1|A0A6Q8PFB7_HUMAN Computationally mapped isoform of Elongator complex protein 1 OS=Homo sapiens OX=9606 GN=ELP1 PE=1 SV=1 CANONICAL=O95163-1" }, "locus": { "chromosome": "9", "start_pos": 108931146, "end_pos": 108877771, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000675727.1", "url": "https://www.ensembl.org/id/ENST00000675727.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000501722.1", "url": "https://www.ensembl.org/id/ENSP00000501722.1" } ] } }, { "isoform_ac": "A0A6Q8PFC8-1", "url": "", "sequence": { "sequence": "MRNLKLFRTLEFRDIQGPGNPQCFSLRTEQGTVLIGSEHGLIEVDPVSREVKNEVSLVAEGFLPEDGSGRIVGVQDLLDQESVCVATASGDVILCSLSTQQLECVGSVASGISVMSWSPDQELVLLATGQQTLIMMTKDFEPILEQQIHQDDFGESKFITVGWGRKETQFHGSEGRQAAFQMQMAF", "length": 186, "header": "tr|A0A6Q8PFC8-1|ELP1_HUMAN Computationally mapped isoform of Elongator complex protein 1 OS=Homo sapiens OX=9606 GN=ELP1 PE=1 SV=1 CANONICAL=O95163-1" }, "locus": { "chromosome": "9", "start_pos": 108931146, "end_pos": 108920778, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000675458.1", "url": "https://www.ensembl.org/id/ENST00000675458.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000501754.1", "url": "https://www.ensembl.org/id/ENSP00000501754.1" } ] } }, { "isoform_ac": "A0A6Q8PFH9-1", "url": "", "sequence": { "sequence": "MRNLKLFRTLEFRDIQGPGNPQCFSLRTEQGTVLIGSEHGLIEVDPVSREVKNEVSLVAEGFLPEDGSGRIVGVQDLLDQESVCVATASGDVILCSLSTQQLECVGSVASGISVMSWSPDQELVLLATGQQTLIMMTKDFEPILEQQIHQDDFGESKFITVGWGRKETQFHGSEGRQAAFQMQMHESALPWDDHRPQVTWRGDGQFFAVSVVCPETGSLIASTQDKPNQQDIVFFEKNGLLHGHFTLPFLKDEVKVNDLLWNADSSVLAVWLEDLQREESSIPKTCVQLWTVGNYHWYLKQSLSFSTCGKSKIVSLMWDPVTPYRLHVLCQGWHYLAYDWHWTTDRSVGDNSSDLSNVAVIDGNRVLVTVFRQTVVPPPMCTYQLLFPHPVNQVTFLAHPQKSNDLAVLDASNQISVYKCGDCPSADPTVKLGAVGGSGFKVCLRTPHLEKRYKIQFENNEDQDVNPLKLGLLTWIEEDVFLAVSHSEFSPRSVIHHLTAASSEMDEEHGQLNVSSSAAVDGVIISLCCNSKTKSVVLQLADGQIFKYLWESPSLAIKPWKNSGGFPVRFPYPCTQTELAMIGEEECVLGLTDRCRFFINDIEVASNITSFAVYDEFLLLTTHSHTCQCFCLRDASFKTLQAGLSSNHVSHGEVLRKVERGSRIVTVVPQDTKLVLQMPRGNLEVVHHRALVLAQIRKWLDKLMFKEAFECMRKLRINLNLIYDHNPKVFLGNVETFIKQIDSVNHINLFFTELKEEDVTKTMYPAPVTSSVYLSRDPDGNKIDLVCDAMRAVMESINPHKYCLSILTSHVKKTTPELEIVLQKVHELQGNAPSDPDAVSAEEALKYLLHLVDVNELYDHSLGTYDFDLVLMVAEKSQKDPKEYLPFLNTLKKMETNYQRFTIDKYLKRYEKAIGHLSKCGPEYFPECLNLIKDKNLYNEALKLYSPSSQQYQDISIAYGEHLMQEHMYEPAGLMFARCGAHEKALSAFLTCGNWKQALCVAAQLNFTKDQLVGLGRTLAGKLVEQRKHIDAAMVLEECAQDYEEAVLLLLEGAAWEEALRLVYKYNRLDIIETNVKPSILEGEGSILDRIPHLEEAQKNYMAFLDSQTATFSRHKKRLLVVRELKEQAQQAGLDDEVPHGQESDLFSETSSVVSGSEMSGKYSHSNSRISARSSKNRRKAERKKHSLKEGSPLEDLALLEALSEVVQNTENLKDEVYHILKVLFLFEFDEQGRELQKAFEDTLQLMERSLPEIWTLTYQQNSATPVLGPNSTANSIMASYQQQKTSVPVLDAELFIPPKINRRTQWKLSLLD", "length": 1313, "header": "tr|A0A6Q8PFH9-1|ELP1_HUMAN Computationally mapped isoform of Elongator complex protein 1 OS=Homo sapiens OX=9606 GN=ELP1 PE=1 SV=1 CANONICAL=O95163-1" }, "locus": { "chromosome": "9", "start_pos": 108931146, "end_pos": 108869118, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000676237.1", "url": "https://www.ensembl.org/id/ENST00000676237.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000501828.1", "url": "https://www.ensembl.org/id/ENSP00000501828.1" } ] } }, { "isoform_ac": "A0A6Q8PFN8-1", "url": "", "sequence": { "sequence": "MRNLKLFRTLEFRDIQGPGNPQCFSLRTEQGTVLIGSEHGLIEVDPVSREVKNEVSLVAEGFLPEDGSGRIVGVQDLLDQESVCVATASGDVILCSLSTQQLECVGSVASGISVMSWSPDQELVLLATGQQTLIMMTKDFEPILEQQIHQDDFGESKFITVGWGRKETQFHGSEGRQAAFQMQMHESALPWDDHRPQVTWRGDGQFFAVSVVCPETGARKVRVWNREFALQSTSEPVAGLGPALAWKPSGSLIASTQDKPNQQDIVFFEKNGLLHGHFTLPFLKDEVKVNDLLWNADSSVLAVWLEDLQREESSIPKTCVQLWTVGNYHWYLKQSLSFSTCGKSKIVSLMWDPVTPYRLHVLCQGWHYLAYDWHWTTDRSVGDNSSDLSNVAVIDGNRVLVTVFRQTVVPPPMCTYQLLFPHPVNQVTFLAHPQKSNDLAVLDASNQISVYKCGDCPSADPTVKLGAVGGSGFKVCLRTPHLEKRYKIQFENNEDQDVNPLKLGLLTWIEEDVFLAVSHSEFSPRSVIHHLTAASSEMDEEHGQLNVSSSAAVDGVIISLCCNSKTKSVVLQLADGQIFKYLWESPSLAIKPWKNSGGFPVRFPYPCTQTELAMIGEEECVLGLTDRCRFFINDIEVASNITSFAVYDEFLLLTTHSHTCQCFCLRDASFKTLQAGLSSNHVSHGEVLRKVERGSRIVTVVPQDTKLVLQMPRGNLEVVHHRALVLAQIRKWLDKLMFKEAFECMRKLRINLNLIYDHNPKVFLGNVETFIKQIDSVNHINLFFTELKEEDVTKTMYPAPVTSSVYLSRDPDGNKIDLVCDAMRAVMESINPHKYCLSILTSHVKKTTPELEIVLQKVHELQGNAPSDPDAVSAEEALKYLLHLVDVNELYDHSLGTYDFDLVLMVAEKSQKFSLIIFLGSQRISSIS", "length": 928, "header": "tr|A0A6Q8PFN8-1|A0A6Q8PFN8_HUMAN Computationally mapped isoform of Elongator complex protein 1 OS=Homo sapiens OX=9606 GN=ELP1 PE=1 SV=1 CANONICAL=O95163-1" }, "locus": { "chromosome": "9", "start_pos": 108931146, "end_pos": 108894041, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000674890.1", "url": "https://www.ensembl.org/id/ENST00000674890.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000501870.1", "url": "https://www.ensembl.org/id/ENSP00000501870.1" } ] } }, { "isoform_ac": "A0A6Q8PFX1-1", "url": "", "sequence": { "sequence": "MRNLKLFRTLEFRDIQGPGNPQCFSLRTEQGTVLIGSEHGLIEVDPVSREVKNEVSLVAEGFLPEDGSGRIVGVQDLLDQESVCVATASGDVILCSLSTQQLECVGSVASGISVMSWSPDQELVLLATDPDYDDKRF", "length": 137, "header": "tr|A0A6Q8PFX1-1|ELP1_HUMAN Computationally mapped isoform of Elongator complex protein 1 OS=Homo sapiens OX=9606 GN=ELP1 PE=1 SV=1 CANONICAL=O95163-1" }, "locus": { "chromosome": "9", "start_pos": 108931146, "end_pos": 108926570, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000675893.1", "url": "https://www.ensembl.org/id/ENST00000675893.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000502001.1", "url": "https://www.ensembl.org/id/ENSP00000502001.1" } ] } }, { "isoform_ac": "A0A6Q8PG86-1", "url": "", "sequence": { "sequence": "MRNLKLFRTLEFRDIQGPGNPQCFSLRTEQGTVLIGSEHGLIEVDPVSREVKNEVSLVAEGFLPEDGSGRIVGVQDLLDQESVCVATASGDVILCSLSTQQLECVGSVASGISVMSWSPDQELVLLATGQQTLIMMTKDFEPILEQQIHQDDFGESKFITVGWGRKETQFHGSEGRQAAFQMQMHESALPWDDHRPQVTWRGDGQFFAVSVVCPETGARKVRVWNREFALQSTSEPVAGLGPALAWKPSGSLIASTQDKPNQQDIVFFEKNGLLHGHFTLPFLKDEVKVNDLLWNADSSVLAVWLEDLQREESSIPKTCVQLWTVGNYHWYLKQSLSFSTCGKSKIVSLMWDPVTPYRLHVLCQGWHYLAYDWHWTTDRSVGDNSSDLSNVAVIDGNRVLVTVFRQTVVPPPMCTYQLLFPHPVNQVTFLAHPQKSNDLAVLDASNQISVYKCGDCPSADPTVKLGAVGGSGFKVCLRTPHLEKRYKIQFENNEDQDVNPLKLGLLTWIEEDVFLAVSHSEFSPRSVIHHLTAASSEMDEEHGQLNVSSSAAVDGVIISLCCNSKTKSVVLQLADGQIFKYLWESPSLAIKPWKNSGGFPVRFPYPCTQTELAMIGEEECVLGLTDRCRFFINDIEVASNITSFAVYDEFLLLTTHSHTCQCFCLRDASFKTLQAGLSSNHVSHGEVLRKVERGSRIVTVVPQDTKLVLQMPRGNLEVVHHRALVLAQIRKWLDKLMFKEAFECMRKLRINLNLIYDHNPKVFLGNVETFIKQIDSVNHINLFFTELKEEDVTKTMYPAPVTSSVYLSRDPDGNKIDLVCDAMRAVMESINPHKYCLSILTSHVKKTTPELEIVLQKVHELQGNAPSDPDAVSAEEALKYLLHLVDVNELYDHSLGTYDFDLVLMVAEKSQKDPKEYLPFLNTLKKMETNYQRFTIDKYLKRYEKAIGHLSKCGPEYFPECLNLIKDKNLYNEALKLYSPSSQQYQDISIAYGEHLMQEHMYEPAGLMFARCGAHEKALSAFLTCGNWKQALCVAAQLNFTKDQLVGLGRTLAGKLVEQRKHIDAAMVLEECAQDYEEAVLLLLEGAAWEEALRLVYKYNRLDIIETNVKPSILEAQKNYMAFLDSQTATFSRHKKRLLVVRELKEQAQQAGLDDEVPHGQESDLFSETSSVVSGSEMSGKYSHSNSRISARSSKNRRKAERKKHSLKEGSPLEDLALLEALSEVVQNTENLKDEVYHILKVLFLFEFDEQGRELQKAFEDTLQLMERSLPEIWTLTYQQNSATPMLSFLYHQRSTEEPSGS", "length": 1302, "header": "tr|A0A6Q8PG86-1|ELP1_HUMAN Computationally mapped isoform of Elongator complex protein 1 OS=Homo sapiens OX=9606 GN=ELP1 PE=1 SV=1 CANONICAL=O95163-1" }, "locus": { "chromosome": "9", "start_pos": 108931146, "end_pos": 108869132, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000674535.1", "url": "https://www.ensembl.org/id/ENST00000674535.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000502142.1", "url": "https://www.ensembl.org/id/ENSP00000502142.1" } ] } }, { "isoform_ac": "A0A6Q8PGA6-1", "url": "", "sequence": { "sequence": "MRNLKLFRTLEFRDIQGPGNPQCFSLRTEQGTVLIGSEHGLIEVDPVSREVKNEVSLVAEGFLPEDGSGRIVGVQDLLDQESVCVATASGDVILCSLSTQQLECVGSVASGISVMSWSPDQELVLLATGQQTLIMMTKDFEPILEQQIHQDDFGESKFITVGWGRKETQFHGSEGRQAAFQMQMHESALPWDDHRPQVTWRGDGQFFAVSVVCPETGARKVRVWNREFALQSTSEPVAGLGPALAWKPSGSLIASTQDKPNQQDIVFFEKNGLLHGHFTLPFLKDEVKVNDLLWNADSSVLAVWLEDLQREESSIPKTCVQLWTVGNYHWYLKQSLSFSTCGKSKIVSLMWDPVTPYRLHVLCQGWHYLAYDWHWTTDRSVGDNSSDLSNVAVIDGSLILFFLFHCRQGVGDSLPADCGSASHVHLPTAVPTPCESSHILSTPSKE", "length": 446, "header": "tr|A0A6Q8PGA6-1|ELP1_HUMAN Computationally mapped isoform of Elongator complex protein 1 OS=Homo sapiens OX=9606 GN=ELP1 PE=1 SV=1 CANONICAL=O95163-1" }, "locus": { "chromosome": "9", "start_pos": 108931146, "end_pos": 108911063, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000675335.1", "url": "https://www.ensembl.org/id/ENST00000675335.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000502182.1", "url": "https://www.ensembl.org/id/ENSP00000502182.1" } ] } }, { "isoform_ac": "A0A6Q8PGC4-1", "url": "", "sequence": { "sequence": "MRNLKLFRTLEFRDIQGPGNPQCFSLRTEQGTVLIGSEHGLIEVDPVSREVKNEVSLVAEGFLPEDGSGRIVGVQDLLDQESVCVATASGDVILCSLSTQQLECVGSVASGISVMSWSPDQELVLLATGQQTLIMMTKDFEPILEQQIHQDDFGESKFITVGWGRKETQFHGSEGRQAAFQMQMHESALPWDDHRPQVTWRGDGQFFAVSVVCPETDPQAV", "length": 221, "header": "tr|A0A6Q8PGC4-1|ELP1_HUMAN Computationally mapped isoform of Elongator complex protein 1 OS=Homo sapiens OX=9606 GN=ELP1 PE=1 SV=1 CANONICAL=O95163-1" }, "locus": { "chromosome": "9", "start_pos": 108931146, "end_pos": 108917657, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000675979.1", "url": "https://www.ensembl.org/id/ENST00000675979.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000502208.1", "url": "https://www.ensembl.org/id/ENSP00000502208.1" } ] } }, { "isoform_ac": "A0A6Q8PGR0-1", "url": "", "sequence": { "sequence": "MRNLKLFRTLEFRDIQGPGNPQCFSLRTEQGTVLIGSEHGLIEVDPVSREVKNEVSLVAEGFLPEDGSGRIVGVQDLLDQESVCVATASGDVILCSLSTQQLECVGSVASGISVMSWSPDQELVLLATGQQTLIMMTKDFEPILEQQIHQDDFGESKFITVGWGRKETQFHGSEGRQAAFQMQMHESALPWDDHRPQVTWRGDGQFFAVSVVCPETGARKVRVWNREFALQSTSEPVAGLGPALAWKPSGSLIASTQDKPNQQDIVFFEKNGLLHGHFTLPFLKDEVKVNDLLWNADSSVLAVWLEDLQREESSIPKTCVQLWTVGNYHWYLKQSLSFSTCGKSKIVSLMWDPVTPYRLHVLCQGWHYLAYDWHWTTDRSVGDNSSDLSNVAVIDGNRVLVTVFRQTVVPPPMCTYQLLFPHPVNQVTFLAHPQKSNDLAVLDASNQISVYKCGDCPSADPTVKLGAVGGSGFKVCLRTPHLEKRYKIQFENNEDQDVNPLKLGLLTWIEEDVFLAVSHSEFSPRSVIHHLTAASSEMDEEHGQLNVSSSAAVDGVIISLCCNSKTKSVVLQLADGQIFKYLWESPSLAIKPWKNSGGFPVRFPYPCTQTELAMIGEEECVLGLTDRCRFFINDIEVASNITSFAVYDEFLLLTTHSHTCQCFCLRDASFKTLQAGLSSNHVSHGEVLRKVERGSRIVTVVPQDTKLVLQMPRGNLEVVHHRALVLAQIRKWLDKLMFKEAFECMRKLRINLNLIYDHNPKVFLGNVETFIKQIDSVNHINLFFTELKRLKSNGIFLSDDLSPQLFNETLSK", "length": 812, "header": "tr|A0A6Q8PGR0-1|ELP1_HUMAN Computationally mapped isoform of Elongator complex protein 1 OS=Homo sapiens OX=9606 GN=ELP1 PE=1 SV=1 CANONICAL=O95163-1" }, "locus": { "chromosome": "9", "start_pos": 108931146, "end_pos": 108898162, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000676044.1", "url": "https://www.ensembl.org/id/ENST00000676044.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000502378.1", "url": "https://www.ensembl.org/id/ENSP00000502378.1" } ] } }, { "isoform_ac": "A0A6Q8PGW3-1", "url": "", "sequence": { "sequence": "MSWSPDQELVLLATGQQTLIMMTKDFEPILEQQIHQDDFGESKFITVGWGRKETQFHGSEGRQAAFQMQMHESALPWDDHRPQVTWRGDGQFFAVSVVCPETGARKVRVWNREFALQSTSEPVAGLGPALAWKPSGSLIASTQDKPNQQDIVFFEKNGLLHGHFTLPFLKDEVKVNDLLWNADSSVLAVWLEDLQREESSIPKTCVQLWTVGNYHWYLKQSLSFSTCGKSKIVSLMWDPVTPYRLHVLCQGWHYLAYDWHWTTDRSVGDNSSDLSNVAVIDGNRVLVTVFRQTVVPPPMCTYQLLFPHPVNQVTFLAHPQKSNDLAVLDASNQISVYKCGDCPSADPTVKLGAVGGSGFKVCLRTPHLEKRYKIQFENNEDQDVNPLKLGLLTWIEEDVFLAVSHSEFSPRSVIHHLTAASSEMDEEHGQLNVSSSAAVDGVIISLCCNSKTKSVVLQLADGQIFKYLWESPSLAIKPWKNSGGFPVRFPYPCTQTELAMIGEEECVLGLTDRCRFFINDIEVASNITSFAVYDEFLLLTTHSHTCQCFCLRDASFKTLQAGLSSNHVSHGEVLRKVERGSRIVTVVPQDTKLVLQMPRGNLEVVHHRALVLAQIRKWLDKLMFKEAFECMRKLRINLNLIYDHNPKVFLGNVETFIKQIDSVNHINLFFTELKEEDVTKTMYPAPVTSSVYLSRDPDGNKIDLVCDAMRAVMESINPHKYCLSILTSHVKKTTPELEIVLQKVHELQGNAPSDPDAVSAEEALKYLLHLVDVNELYDHSLGTYDFDLVLMVAEKSQKDPKEYLPFLNTLKKMETNYQRFTIDKYLKRYEKAIGHLSKCGPEYFPECLNLIKDKNLYNEALKLYSPSSQQYQDISIAYGEHLMQEHMYEPAGLMFARCGAHEKALSAFLTCGNWKQALCVAAQLNFTKDQLVGLGRTLAGKLVEQRKHIDAAMVLEECAQDYEEAVLLLLEGAAWEEALRLVYKYNRLDIIETNVKPSILEAQKNYMAFLDSQTATFSRHKKRLLVVRELKEQAQQAGLDDEVPHGQESDLFSETSSVVSGSEMSGKYSHSNSRISARSSKNRRKAERKKHSLKEGSPLEDLALLEALSEVVQNTENLKDEVYHILKVLFLFEFDEQGRELQKAFEDTLQLMERSLPEIWTLTYQQNSATPVLGPNSTANSIMASYQQQKTSVPVLDAELFIPPKINRRTQWKLSLLD", "length": 1218, "header": "tr|A0A6Q8PGW3-1|ELP1_HUMAN Computationally mapped isoform of Elongator complex protein 1 OS=Homo sapiens OX=9606 GN=ELP1 PE=1 SV=1 CANONICAL=O95163-1" }, "locus": { "chromosome": "9", "start_pos": 108927414, "end_pos": 108869118, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000674938.1", "url": "https://www.ensembl.org/id/ENST00000674938.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000502427.1", "url": "https://www.ensembl.org/id/ENSP00000502427.1" } ] } }, { "isoform_ac": "A0A6Q8PH36-1", "url": "", "sequence": { "sequence": "MRNLKLFRTLEFRDIQGPGNPQCFSLRTEQGTVLIGSEHGLIEVDPVSREVKNEVSLVAEGFLPEDGSGRIVGVQDLLDQESVCVATASGDVILCSLSTQQLECVGSVASGISVMSWSPDQELVLLATGQQTLIMMTKDFEPILEQQIHQDDFGESKFITVGWGRKETQFHGSEGRQAAFQMQMTLRQFDCIYTR", "length": 195, "header": "tr|A0A6Q8PH36-1|ELP1_HUMAN Computationally mapped isoform of Elongator complex protein 1 OS=Homo sapiens OX=9606 GN=ELP1 PE=1 SV=1 CANONICAL=O95163-1" }, "locus": { "chromosome": "9", "start_pos": 108931146, "end_pos": 108917638, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000675215.1", "url": "https://www.ensembl.org/id/ENST00000675215.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000502558.1", "url": "https://www.ensembl.org/id/ENSP00000502558.1" } ] } }, { "isoform_ac": "A0A6Q8PH48-1", "url": "", "sequence": { "sequence": "MRNLKLFRTLEFRDIQGPGNPQCFSLRTEQGTVLIGSEHGLIEVDPVSREVKNEVSLVAEGFLPEDGSGRIVGVQDLLDQESVCVATASGDVILCSLSTQQLECVGSVASGISVMSWSPDQELVLLATGQQTLIMMTKDFEPILEQQIHQDDFGESKFITVGWGRKETQFHGSEGRQAAFQMQMHESALPWDDHRPQVTWRGDGQFFAVSVVCPETGARKVRVWNREFALQSTSEPVAGLGPALAWKPSGSLIASTQDKPNQQDIVFFEKNGLLHGHFTLPFLKDEVKVNDLLWNADSSVLAVWLEDLQREESSIPKTCVQLWTVGNYHWYLKQSLSFSTCGKSKIVSLMWDPVTPYRLHVLCQGWHYLAYDWHWTTDRSVGDNSSDLSNVAVIDGNRVLVTVFRQTVVPPPMCTYQLLFPHPVNQVTFLAHPQKSNDLAVLDASNQISVYKCGDCPSADPTVKLGAVGGSGFKVCLRTPHLEKRYKIQFENNEDQDVNPLKLGLLTWIEEDVFLAVSHSEFSPRSVIHHLTAASSEMDEEHGQLNVSSSAAVDGVIISLCCNSKTKSVVLQLADGQIFKYLWESPSLAIKPWKNSGGFPVRFPYPCTQTELAMIGEEECVLGLTDRCRFFINDIEVASNITSFAVYDEFLLLTTHSHTCQCFCLRDASFKTLQAGLSSNHVSHGEVLRKVERGSRIVTVVPQDTKLVLQMPRGNLEVVHHRALVLAQIRKWLDKLMFKEAFECMRKLRINLNLIYDHNPKVFLGNVETFIKQIDSVNHINLFFTELKEEDVTKTMYPAPVTSSVYLSRDPDGNKIDLVCDAMRAVMESINPHKYCLSILTSHVKKTTPELEIVLQKVHELQGNAPSDPDAVSAEEALKYLLHLVDVNELYDHSLGTYDFDLVLMVAEKSQKDPKEYLPFLNTLKKMETNYQRFTIDKYLKRYEKAIGHLSKCGPEYFPECLNLIKDKNLYNEALKLYSPSSQQYQDISIAYGEHLMQEHMYEPAGLMFARCGAHEKALSAFLTCGNWKQALCVAAQLNFTKDQLVGLGRTLAGKLVEQRKHIDAAMVLEECAQRWGVTSCPRWSETPGLK", "length": 1091, "header": "tr|A0A6Q8PH48-1|ELP1_HUMAN Computationally mapped isoform of Elongator complex protein 1 OS=Homo sapiens OX=9606 GN=ELP1 PE=1 SV=1 CANONICAL=O95163-1" }, "locus": { "chromosome": "9", "start_pos": 108931146, "end_pos": 108884862, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000675711.1", "url": "https://www.ensembl.org/id/ENST00000675711.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000502485.1", "url": "https://www.ensembl.org/id/ENSP00000502485.1" } ] } }, { "isoform_ac": "A0A6Q8PHA0-1", "url": "", "sequence": { "sequence": "MRNLKLFRTLEFRDIQGPGNPQCFSLRTEQGTVLIGSEHGLIEVDPVSREVKNEVSLVAEGFLPEDGSGRIVGVQDLLDQESVCVATASGDVILCSLSTQQLECVGSVASGISVMSWSPDQELVLLATGQQTLIMMTKDFEPILEQQIHQDDFGESKFITVGWGRKETQFHGSEGRQAAFQMQMHESALPWDDHRPQVTWRGDGQFFAVSVVCPETGARKVRVWNREFALQSTSEPVAGLGPALAWKPSGSLIASTQDKPNQQDIVFFEKNGLLHGHFTLPFLKDEVKVNDLLWNADSSVLAVWLEDLQREESSIPKTCVQLWTVGNYHWYLKQSLSFSTCGKSKIVSLMWDPVTPYRLHVLCQGWHYLAYDWHWTTDRSVGDNSSDLSNVAVIDGNRVLVTVFRQTVVPPPMCTYQLLFPHPVNQVTFLAHPQKSNDLAVLDASNQISVYKCGDCPSADPTVKLGAVGGSGFKVCLRTPHLEKRYKIQFENNEDQDVNPLKLGLLTWIEEDVFLAVSHSEFSPRSVIHHLTAASSEMDEEHGQLNVSSSAAVDGVIISLCCNSKTKSVVLQLADGQIFKYLWESPSLAIKPWKNSGGFPVRFPYPCTQTELAMIGEEECVLGLTDRCRFFINDIEVASNITSFAVYDEFLLLTTHSHTCQCFCLRDASFKTLQAGLSSNHVSHGEVLRKVERGSRIVTVVPQDTKLVLQMPRGNLEVVHHRALVLAQIRKWLDKLMFKEAFECMRKLRINLNLIYDHNPKVFLGNVETFIKQIDSVNHINLFFTELKEEDVTKTMYPAPVTSSVYLSRDPDGNKIDLVCDAMRAVMESINPHKYCLSILTSHVKKTTPELEIVLQKVHELQGRDPLTEKVLKVAVTATSLLQEMLPLILML", "length": 892, "header": "tr|A0A6Q8PHA0-1|ELP1_HUMAN Computationally mapped isoform of Elongator complex protein 1 OS=Homo sapiens OX=9606 GN=ELP1 PE=1 SV=1 CANONICAL=O95163-1" }, "locus": { "chromosome": "9", "start_pos": 108931146, "end_pos": 108896618, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000675765.1", "url": "https://www.ensembl.org/id/ENST00000675765.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000502640.1", "url": "https://www.ensembl.org/id/ENSP00000502640.1" } ] } }, { "isoform_ac": "A0A6Q8PHC9-1", "url": "", "sequence": { "sequence": "MRNLKLFRTLEFRDIQGPGNPQCFSLRTEQGTVLIGSEHGLIEVDPVSREVKNEVSLVAEGFLPEDGSGRIVGVQDLLDQESVCVATASGDVILCSLSTQQLECVGSVASGISVMSWSPDQELVLLATGQQTLIMMTKDFEPILEQQIHQDDFGESKFITVGWGRKETQFHGSEGRQAAFQMQMHESALPWDDHRPQVTWRGDGQFFAVSVVCPETGARKVRVWNREFALQSTSEPVAGLGPALAWKPSGSLIASTQDKPNQQDIVFFEKNGLLHGHFTLPFLKDEVKVNDLLWNADSSVLAVWLEDLQREESSIPKTCVQLWTVGNYHWYLKQSLSFSTCGKSKIVSLMWDPVTPYRLHVLCQGWHYLAYDWHWTTDRSVGDNSSDLSNVAVIDGNRVLVTVFRQTVVPPPMCTYQLLFPHPVNQVTFLAHPQKSNDLAVLDASNQISVYKCGDCPSADPTVKLGAVGGSGFKVCLRTPHLEKRYKIQFENNEDQDVNPLKLGLLTWIEEDVFLAVSHSEFSPRSVIHHLTAASSEMDEEHGQLNVSSSAAVDGVIISLCCNSKTKSVVLQLADGQIFKYLWESPSLAIKPWKNSGGFPVRFPYPCTQTELAMIGEEECVLGLTDRCRFFINDIEVASNITSFAVYDEFLLLTTHSHTCQCFCLRDASFKTLQAGLSSNHVSHGEVLRKVERGSRIVTVVPQDTKLVLQMPRGNLEVVHHRALVLAQIRKWLDKLMFKEAFECMRKLRINLNLIYDHNPKVFLGNVETFIKQIDSVNHINLFFTELKEEDVTKTMYPAPVTSSVYLSRDPDGNKIDLVCDAMRAVMESINPHKYCLSILTSHVKKTTPELEIVLQKVHELQGNAPSDPDAVSAEEALKYLLHLVDVNELYDHSLGTYDFDLVLMVAEKSQKDPKEYLPFLNTLKKMETNYQRFTIDKYLKRYEKAIGHLSKCGPEYFPECLNLIKDKNLYNEALKLYSPSSQQYQDISIAYGEHLMQEHMYEPAGLMFARCGAHEKALSAFLTCGNWKQALCVAAQLNFTKDQLVGLGRTLAGKLVEQRKHIDAAMVLEECAQDYEEAVLLLLEGAAWEEALRLVYKYNRLDIIETNVKPSILEGEGSILDRIPHLEEAQKNYMAFLDSQTATFSRHKKRLLVVRELKEQAQQAGLDDEVPHGQESDLFSETSSVVSGSEMSGKYSHSNSRISARSSKNRRKAERKKHSLKEGSPLEDLALLEALSEVVQNTENLKDEVYHILKVLFLFEFDEQGRELQKAFEDTLQLMERSLPEIWTLTYQQNSATPVLGPNSTANSIMASYQQQKTSVPVLDAELFIPPKINRRTQWKLSLLD", "length": 1346, "header": "tr|A0A6Q8PHC9-1|ELP1_HUMAN Computationally mapped isoform of Elongator complex protein 1 OS=Homo sapiens OX=9606 GN=ELP1 PE=1 SV=1 CANONICAL=O95163-1" }, "locus": { "chromosome": "9", "start_pos": 108931146, "end_pos": 108869118, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000675825.1", "url": "https://www.ensembl.org/id/ENST00000675825.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000502632.1", "url": "https://www.ensembl.org/id/ENSP00000502632.1" } ] } }, { "isoform_ac": "A0A6Q8PHF4-1", "url": "", "sequence": { "sequence": "MRNLKLFRTLEFRDIQGPGNPQCFSLRTEQGTVLIGSEHGLIEVDPVSREVKNEVSLVAEGFLPEDGSGRIVGVQDLLDQESVCVATASGDVILCSLSTQQLECVGSVASGISVMSWSPDQELVLLATGQQTLIMMTKDFEPILEQQIHQDDFGESKFITVGWGRKETQFHGSEGRQAAFQMQMHESALPWDDHRPQVTWRGDGQFFAVSVVCPETGARKVRVWNREFALQSTSEPVAGLGPALAWKPSGSLIASTQDKPNQQDIVFFEKNGLLHGHFTLPFLKDEVKVNDLLWNADSSVLAVWLEDLQREESSIPKTCVQLWTVGNYHWYLKQSLSFSTCGKSKIVSLMWDPVTPYRLHVLCQGWHYLAYDWHWTTDRSVGDNSSDLSNVAVIDGNRVLVTVFRQTVVPPPMCTYQLLFPHPVNQVTFLAHPQKSNDLAVLDASNQISVYKCGDCPSADPTVKLGAVGGSGFKVCLRTPHLEKRYKIQFENNEDQDVNPLKLGLLTWIEEDVFLAVSHSEFSPRSVIHHLTAASSEMDEEHGQLNVSSSAAVDGVIISLCCNSKTKSVVLQLADGQIFKYLWESPSLAIKPWKNSGGFPVRFPYPCTQTELAMIGEEECVLGLTDRCRFFINDIEVASNITSFAVYDEFLLLTTHSHTCQCFCLRDASFKTLQAGLSSNHVSHGEVLRKVERGSRIVTVVPQDTKLVLQMPRGNLEVVHHRALVLAQIRKWLDKLMFKEAFECMRKLRINLNLIYDHNPKVFLGNVETFIKQIDSVNHINLFFTELKEEDVTKTMYPAPVTSSVYLSRDPDGNKIDLVCDAMRAVMESINPHKYCLSILTSHVKKTTPELEIVLQKVHELQGNAPSDPDAVSAEEALKYLLHLVDVNELYDHSLGTYDFDLVLMVAEKSQKDPKEYLPFLNTLKKMETNYQRFTIDKYLKRYEKAIGHLSKCGPEYFPECLNLIKDKNLYNEALKLYSPSSQQYQDISIAYGEHLMQEHMYEPAGLMFARCGAHEKALSAFLTCGNWKQALCVAAQLNFTKDQLVGLGRTLAGKLVEQRKHIDAAMVLEECAQDYEEAVLLLLEGAAWEEALRLVYKYNRLDIIETNVKPSILEAQKNYMAFLDSQTATFSRHKKRLLVVRELKEQAQQAGLDDEVPHGQESDLFSETSSVVSGSEMSGKYSHSNSRISARSSKNRRKAERKKHSLKEGSPLEDLALLEALSEVVQNTENLKDEVYHILKVLFLFEFDEQGRELQKAFEDTLQLMERSLPEIWTLTYQQNSATPVLGPNSTANSIMASYQQQKTSVPVLARPTPPLPPLLQPTQRGDDKDEDLYDDPLPFNE", "length": 1343, "header": "tr|A0A6Q8PHF4-1|ELP1_HUMAN Computationally mapped isoform of Elongator complex protein 1 OS=Homo sapiens OX=9606 GN=ELP1 PE=1 SV=1 CANONICAL=O95163-1" }, "locus": { "chromosome": "9", "start_pos": 108931146, "end_pos": 108870454, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000675052.1", "url": "https://www.ensembl.org/id/ENST00000675052.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000502664.1", "url": "https://www.ensembl.org/id/ENSP00000502664.1" } ] } }, { "isoform_ac": "A0A6Q8PHI5-1", "url": "", "sequence": { "sequence": "MRNLKLFRTLEFRDIQGPGNPQCFSLRTEQGTVLIGSEHGLIEVDPVSREVKNEVSLVAEGFLPEDGSGRIVGVQDLLDQESVCVATASGDVILCSLSTQQLECVGSVASGISVMSWSPDQELVLLATGQQTLIMMTKDFEPILEQQIHQDDFGESKFITVGWGRKETQFHGSEGRQAAFQMQMHESALPWDDHRPQVTWRGDGQFFAVSVVCPETGARKVRVWNREFALQSTSEPVAGLGPALAWKPSGSLIASTQDKPNQQDIVFFEKNGLLHGHFTLPFLKDEVKVNDLLWNADSSVLAVWLEDLQREESSIPKTCVQLWTVGNYHWYLKQSLSFSTCGKSKIVSLMWDPVTPYRLHVLCQGWHYLAYDWHWTTDRSVGDNSSDLSNVAVIDGNRVLVTVFRQTVVPPPMCTYQLLFPHPVNQVTFLAHPQKSNDLAVLDASNQISVYKCGDCPSADPTVKLGAVGGSGFKVCLRTPHLEKRYKIQFENNEDQDVNPLKLGLLTWIEEDVFLAVSHSEFSPRSVIHHLTAASSEMDEEHGQLNVSSSAAVDGVIISLCCNSKTKSVVLQLADGQIFKYLWESPSLAIKPWKNSGGFPVRFPYPCTQTELAMIGEEECVLGLTDRCRFFINDIEVASNITSFAVYDEFLLLTTHSHTCQCFCLRDASFKTLQAGLSSNHVSHGEVLRKVERGSRIVTVVPQDTKLVLQMPRGNLEVVHHRALVLAQIRKWLDKLMFKEAFECMRKLRINLNLIYDHNPKVFLGNVETFIKQIDSVNHINLFFTELKEEDVTKTMYPAPVTSSVYLSRDPDGNKIDLVCDAMRAVMESINPHKYCLSILTSHVKKTTPELEIVLQKVHELQGNAPSDPDAVSAEEALKYLLHLVDVNELYDHSLGTYDFDLVLMVAEKSQKDPKEYLPFLNTLKKMETNYQRFTIDKYLKRYEKAIGHLSKCGPEYFPECLNLIKDKNLYNEALKLYSPSSQQYQDISIAYGEHLMQEHMYEPAGLMFARCGAHEKALSAFLTCGNWKQALCVAAQLNFTKDQLVGLGRTLAGKLVEQRKHIDAAMVLEECAQDYEEAVLLLLEGAAWEEALRLVYKYNRLDIIETNVKPSILEAQKNYMAFLDSQTATFSRHKKRLLVVRELKEQAQQAGLGDHPRIAEKRSGRSTASKKAVRWRTWPSWRH", "length": 1184, "header": "tr|A0A6Q8PHI5-1|ELP1_HUMAN Computationally mapped isoform of Elongator complex protein 1 OS=Homo sapiens OX=9606 GN=ELP1 PE=1 SV=1 CANONICAL=O95163-1" }, "locus": { "chromosome": "9", "start_pos": 108931146, "end_pos": 108878659, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000675321.1", "url": "https://www.ensembl.org/id/ENST00000675321.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000502751.1", "url": "https://www.ensembl.org/id/ENSP00000502751.1" } ] } }, { "isoform_ac": "F5H2T0-1", "url": "", "sequence": { "sequence": "MWDPVTPYRLHVLCQGWHYLAYDWHWTTDRSVGDNSSDLSNVAVIDGNRVLVTVFRQTVVPPPMCTYQLLFPHPVNQVTFLAHPQKSNDLAVLDASNQISVYKCGDCPSADPTVKLGAVGGSGFKVCLRTPHLEKRYKIQFENNEDQDVNPLKLGLLTWIEEDVFLAVSHSEFSPRSVIHHLTAASSEMDEEHGQLNVSSSAAVDGVIISLCCNSKTKSVVLQLADGQIFKYLWESPSLAIKPWKNSGGFPVRFPYPCTQTELAMIGEEECVLGLTDRCRFFINDIEVASNITSFAVYDEFLLLTTHSHTCQCFCLRDASFKTLQAGLSSNHVSHGEVLRKVERGSRIVTVVPQDTKLVLQMPRGNLEVVHHRALVLAQIRKWLDKLMFKEAFECMRKLRINLNLIYDHNPKVFLGNVETFIKQIDSVNHINLFFTELKEEDVTKTMYPAPVTSSVYLSRDPDGNKIDLVCDAMRAVMESINPHKYCLSILTSHVKKTTPELEIVLQKVHELQGNAPSDPDAVSAEEALKYLLHLVDVNELYDHSLGTYDFDLVLMVAEKSQKDPKEYLPFLNTLKKMETNYQRFTIDKYLKRYEKAIGHLSKCGPEYFPECLNLIKDKNLYNEALKLYSPSSQQYQDISIAYGEHLMQEHMYEPAGLMFARCGAHEKALSAFLTCGNWKQALCVAAQLNFTKDQLVGLGRTLAGKLVEQRKHIDAAMVLEECAQDYEEAVLLLLEGAAWEEALRLVYKYNRLDIIETNVKPSILEAQKNYMAFLDSQTATFSRHKKRLLVVRELKEQAQQAGLDDEVPHGQESDLFSETSSVVSGSEMSGKYSHSNSRISARSSKNRRKAERKKHSLKEGSPLEDLALLEALSEVVQNTENLKDEVYHILKVLFLFEFDEQGRELQKAFEDTLQLMERSLPEIWTLTYQQNSATPVLGPNSTANSIMASYQQQKTSVPVLDAELFIPPKINRRTQWKLSLLD", "length": 983, "header": "tr|F5H2T0-1|ELP1_HUMAN Computationally mapped isoform of Elongator complex protein 1 OS=Homo sapiens OX=9606 GN=ELP1 PE=1 SV=1 CANONICAL=O95163-1" }, "locus": { "chromosome": "9", "start_pos": 108912405, "end_pos": 108869118, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000537196.1", "url": "https://www.ensembl.org/id/ENST00000537196.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000439367.1", "url": "https://www.ensembl.org/id/ENSP00000439367.1" } ] } }, { "isoform_ac": "H0YDF3-1", "url": "", "sequence": { "sequence": "MRNLKLFRTLEFRDIQGPGNPQCFSLRTEQGTVLIGSEHGLIEVDPVSREVKNEVSLVAEGFLPEDGSGRIVGVQDLLDQESVCVATASGDVILCSLSTQQLECVGSVASGISVMSWSPDQELVLLATGQQTLIMMTKDFEPILEQQIHQDDFGESKFITVGWGRKETQFHGSEGRQAAFQMQMVIVQVLTLQ", "length": 193, "header": "tr|H0YDF3-1|H0YDF3_HUMAN Computationally mapped isoform of IkappaB kinase complex-associated protein OS=Homo sapiens OX=9606 GN=ELP1 PE=1 SV=2 CANONICAL=O95163-1" }, "locus": { "chromosome": "9", "start_pos": 108931146, "end_pos": 108908378, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000495759.6", "url": "https://www.ensembl.org/id/ENST00000495759.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000433514.2", "url": "https://www.ensembl.org/id/ENSP00000433514.2" } ] } }, { "isoform_ac": "O95163-1", "url": "", "sequence": { "sequence": "MRNLKLFRTLEFRDIQGPGNPQCFSLRTEQGTVLIGSEHGLIEVDPVSREVKNEVSLVAEGFLPEDGSGRIVGVQDLLDQESVCVATASGDVILCSLSTQQLECVGSVASGISVMSWSPDQELVLLATGQQTLIMMTKDFEPILEQQIHQDDFGESKFITVGWGRKETQFHGSEGRQAAFQMQMHESALPWDDHRPQVTWRGDGQFFAVSVVCPETGARKVRVWNREFALQSTSEPVAGLGPALAWKPSGSLIASTQDKPNQQDIVFFEKNGLLHGHFTLPFLKDEVKVNDLLWNADSSVLAVWLEDLQREESSIPKTCVQLWTVGNYHWYLKQSLSFSTCGKSKIVSLMWDPVTPYRLHVLCQGWHYLAYDWHWTTDRSVGDNSSDLSNVAVIDGNRVLVTVFRQTVVPPPMCTYQLLFPHPVNQVTFLAHPQKSNDLAVLDASNQISVYKCGDCPSADPTVKLGAVGGSGFKVCLRTPHLEKRYKIQFENNEDQDVNPLKLGLLTWIEEDVFLAVSHSEFSPRSVIHHLTAASSEMDEEHGQLNVSSSAAVDGVIISLCCNSKTKSVVLQLADGQIFKYLWESPSLAIKPWKNSGGFPVRFPYPCTQTELAMIGEEECVLGLTDRCRFFINDIEVASNITSFAVYDEFLLLTTHSHTCQCFCLRDASFKTLQAGLSSNHVSHGEVLRKVERGSRIVTVVPQDTKLVLQMPRGNLEVVHHRALVLAQIRKWLDKLMFKEAFECMRKLRINLNLIYDHNPKVFLGNVETFIKQIDSVNHINLFFTELKEEDVTKTMYPAPVTSSVYLSRDPDGNKIDLVCDAMRAVMESINPHKYCLSILTSHVKKTTPELEIVLQKVHELQGNAPSDPDAVSAEEALKYLLHLVDVNELYDHSLGTYDFDLVLMVAEKSQKDPKEYLPFLNTLKKMETNYQRFTIDKYLKRYEKAIGHLSKCGPEYFPECLNLIKDKNLYNEALKLYSPSSQQYQDISIAYGEHLMQEHMYEPAGLMFARCGAHEKALSAFLTCGNWKQALCVAAQLNFTKDQLVGLGRTLAGKLVEQRKHIDAAMVLEECAQDYEEAVLLLLEGAAWEEALRLVYKYNRLDIIETNVKPSILEAQKNYMAFLDSQTATFSRHKKRLLVVRELKEQAQQAGLDDEVPHGQESDLFSETSSVVSGSEMSGKYSHSNSRISARSSKNRRKAERKKHSLKEGSPLEDLALLEALSEVVQNTENLKDEVYHILKVLFLFEFDEQGRELQKAFEDTLQLMERSLPEIWTLTYQQNSATPVLGPNSTANSIMASYQQQKTSVPVLDAELFIPPKINRRTQWKLSLLD", "length": 1332, "header": "sp|O95163-1|ELP1_HUMAN Isoform 1 of Elongator complex protein 1 OS=Homo sapiens OX=9606 GN=ELP1 PE=1 SV=3 CANONICAL=O95163-1" }, "locus": { "chromosome": "9", "start_pos": 108931146, "end_pos": 108869118, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000374647.10", "url": "https://www.ensembl.org/id/ENST00000374647.10" }, { "database": "Ensembl Peptide", "id": "ENSP00000363779.5", "url": "https://www.ensembl.org/id/ENSP00000363779.5" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "O95163", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O95163" }, { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "28510447", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28510447" }, { "id": "36580660", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36580660" }, { "id": "34229054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34229054" }, { "id": "30397120", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30397120" } ] } ], "phosphorylation": [ { "start_pos": 1171, "end_pos": 1171, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O95163", "url": "https://www.uniprot.org/uniprot/O95163" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "iPTMnet", "id": "O95163", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95163" }, { "database": "phospho.ELM", "id": "O95163", "url": "http://phospho.elm.eu.org/byAccession/O95163.html" } ], "site_lbl": "Ser1171" }, { 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"glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "A new human member of the MYST family of histone acetyl transferases with high sequence similarity to Drosophila MOF.", "journal": "Biochimica et biophysica acta", "date": "2000", "authors": "Neal KC, Pannuti A, Smith ER, Lucchesi JC", "evidence": [ { "database": "Reactome", "id": "R-HSA-3214847", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3214847" } ], "reference": [ { "type": "PubMed", "id": "10786633", "url": "https://glygen.org/publication/PubMed/10786633" } ] }, { "title": "ATF-2 has intrinsic histone acetyltransferase activity which is modulated by phosphorylation.", "journal": "Nature", "date": "2000", "authors": "Kawasaki H, Schiltz L, Chiu R, Itakura K, Taira K, Nakatani Y, Yokoyama KK", "evidence": [ { "database": "Reactome", "id": "R-HSA-3214847", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3214847" } ], "reference": [ { "type": "PubMed", "id": "10821277", "url": "https://glygen.org/publication/PubMed/10821277" } ] }, { "title": "Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia.", "journal": "American journal of human genetics", "date": "2001", "authors": "Slaugenhaupt SA, Blumenfeld A, Gill SP, Leyne M, Mull J, Cuajungco MP, Liebert CB, Chadwick B, Idelson M, Reznik L, Robbins C, Makalowska I, Brownstein M, Krappmann D, Scheidereit C, Maayan C, Axelrod FB, Gusella JF", "evidence": [ { "database": "UniProtKB", "id": "O95163", "url": "https://www.uniprot.org/uniprot/O95163" } ], "reference": [ { "type": "PubMed", "id": "11179008", "url": "https://glygen.org/publication/PubMed/11179008" } ] }, { "title": "Familial dysautonomia is caused by mutations of the IKAP gene.", "journal": "American journal of human genetics", "date": "2001", "authors": "Anderson SL, Coli R, Daly IW, Kichula EA, Rork MJ, Volpi SA, Ekstein J, Rubin BY", "evidence": [ { "database": "UniProtKB", "id": "O95163", "url": "https://www.uniprot.org/uniprot/O95163" } ], "reference": [ { "type": "PubMed", "id": "11179021", "url": "https://glygen.org/publication/PubMed/11179021" } ] }, { "title": "Purification and characterization of the human elongator complex.", "journal": "J. Biol. Chem.", "date": "2002", "authors": "Hawkes Nicola A, Otero Gabriel, Winkler G Sebastiaan, Marshall Nick, Dahmus Michael E, Krappmann Daniel, Scheidereit Claus, Thomas Claire L, Schiavo Giampietro, Erdjument-Bromage Hediye, Tempst Paul, Svejstrup Jesper Q", "evidence": [ { "database": "UniProtKB", "id": "O95163", "url": "https://www.uniprot.org/uniprot/O95163" } ], "reference": [ { "type": "PubMed", "id": "11714725", "url": "https://glygen.org/publication/PubMed/11714725" } ] }, { "title": "Human Elongator facilitates RNA polymerase II transcription through chromatin.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "2002", "authors": "Kim JH, Lane WS, Reinberg D", "evidence": [ { "database": "UniProtKB", "id": "O95163", "url": "https://www.uniprot.org/uniprot/O95163" } ], "reference": [ { "type": "PubMed", "id": "11818576", "url": "https://glygen.org/publication/PubMed/11818576" } ] }, { "title": "Identification of the first non-Jewish mutation in familial Dysautonomia.", "journal": "American journal of medical genetics. Part A", "date": "2003", "authors": "Leyne M, Mull J, Gill SP, Cuajungco MP, Oddoux C, Blumenfeld A, Maayan C, Gusella JF, Axelrod FB, Slaugenhaupt SA", "evidence": [ { "database": "UniProtKB", "id": "O95163", "url": "https://www.uniprot.org/uniprot/O95163" } ], "reference": [ { "type": "PubMed", "id": "12687659", "url": "https://glygen.org/publication/PubMed/12687659" } ] }, { "title": "Gene expression signatures identify rhabdomyosarcoma subtypes and detect a novel t(2;2)(q35;p23) translocation fusing PAX3 to NCOA1.", "journal": "Cancer research", "date": "2004", "authors": "Wachtel M, Dettling M, Koscielniak E, Stegmaier S, Treuner J, Simon-Klingenstein K, Buhlmann P, Niggli FK, Schafer BW", "evidence": [ { "database": "Reactome", "id": "R-HSA-3214847", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3214847" } ], "reference": [ { "type": "PubMed", "id": "15313887", "url": "https://glygen.org/publication/PubMed/15313887" } ] }, { "title": "ING tumor suppressor proteins are critical regulators of chromatin acetylation required for genome expression and perpetuation.", "journal": "Molecular cell", "date": "2006", "authors": "Doyon Y, Cayrou C, Ullah M, Landry AJ, Cote V, Selleck W, Lane WS, Tan S, Yang XJ, Cote J", "evidence": [ { "database": "Reactome", "id": "R-HSA-3214847", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3214847" } ], "reference": [ { "type": "PubMed", "id": "16387653", "url": "https://glygen.org/publication/PubMed/16387653" } ] }, { "title": "Molecular basis of histone H3K4me3 recognition by ING4.", "journal": "The Journal of biological chemistry", "date": "2008", "authors": "Palacios A, Munoz IG, Pantoja-Uceda D, Marcaida MJ, Torres D, Martin-Garcia JM, Luque I, Montoya G, Blanco FJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-3214847", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3214847" } ], "reference": [ { "type": "PubMed", "id": "18381289", "url": "https://glygen.org/publication/PubMed/18381289" } ] }, { "title": "The crystal structure of the ING5 PHD finger in complex with an H3K4me3 histone peptide.", "journal": "Proteins", "date": "2008", "authors": "Champagne KS, Saksouk N, Pena PV, Johnson K, Ullah M, Yang XJ, Cote J, Kutateladze TG", "evidence": [ { "database": "Reactome", "id": "R-HSA-3214847", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3214847" } ], "reference": [ { "type": "PubMed", "id": "18623064", "url": "https://glygen.org/publication/PubMed/18623064" } ] }, { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "O95163", "url": "https://www.uniprot.org/uniprot/O95163" }, { "database": "iPTMnet", "id": "O95163", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95163" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "ING4 mediates crosstalk between histone H3 K4 trimethylation and H3 acetylation to attenuate cellular transformation.", "journal": "Molecular cell", "date": "2009", "authors": "Hung T, Binda O, Champagne KS, Kuo AJ, Johnson K, Chang HY, Simon MD, Kutateladze TG, Gozani O", "evidence": [ { "database": "Reactome", "id": "R-HSA-3214847", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3214847" } ], "reference": [ { "type": "PubMed", "id": "19187765", "url": "https://glygen.org/publication/PubMed/19187765" } ] }, { "title": "Subunit composition and substrate specificity of a MOF-containing histone acetyltransferase distinct from the male-specific lethal (MSL) complex.", "journal": "The Journal of biological chemistry", "date": "2010", "authors": "Cai Y, Jin J, Swanson SK, Cole MD, Choi SH, Florens L, Washburn MP, Conaway JW, Conaway RC", "evidence": [ { "database": "Reactome", "id": "R-HSA-3214847", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3214847" } ], "reference": [ { "type": "PubMed", "id": "20018852", "url": "https://glygen.org/publication/PubMed/20018852" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "UniProtKB", "id": "O95163", "url": "https://www.uniprot.org/uniprot/O95163" }, { "database": "iPTMnet", "id": "O95163", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95163" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "title": "DERP6 (ELP5) and C3ORF75 (ELP6) regulate tumorigenicity and migration of melanoma cells as subunits of Elongator.", "journal": "J. 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Chem.", "date": "2012", "authors": "Close P, Gillard M, Ladang A, Jiang Z, Papuga J, Hawkes N, Nguyen L, Chapelle JP, Bouillenne F, Svejstrup J, Fillet M, Chariot A", "evidence": [ { "database": "UniProtKB", "id": "O95163", "url": "https://www.uniprot.org/uniprot/O95163" } ], "reference": [ { "type": "PubMed", "id": "22854966", "url": "https://glygen.org/publication/PubMed/22854966" } ] }, { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "O95163", "url": "https://www.uniprot.org/uniprot/O95163" }, { "database": "iPTMnet", "id": "O95163", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95163" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "Proteome wide purification and identification of O-GlcNAc-modified proteins using click chemistry and mass spectrometry.", "journal": "Journal of proteome research", "date": "2013", "authors": "Hahne H, Sobotzki N, Nyberg T, Helm D, Borodkin VS, van Aalten DM, Agnew B, Kuster B", "evidence": [ { "database": "O-GlcNAc Database", "id": "O95163", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O95163" } ], "reference": [ { "type": "PubMed", "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498" } ] }, { "title": "The Elp2 subunit is essential for elongator complex assembly and functional regulation.", "journal": "Structure", "date": "2015", "authors": "Dong C, Lin Z, Diao W, Li D, Chu X, Wang Z, Zhou H, Xie Z, Shen Y, Long J", "evidence": [ { "database": "UniProtKB", "id": "O95163", "url": "https://www.uniprot.org/uniprot/O95163" } ], "reference": [ { "type": "PubMed", "id": "25960406", "url": "https://glygen.org/publication/PubMed/25960406" } ] }, { "title": "Dimerization 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"id": "28510447", "url": "https://glygen.org/publication/PubMed/28510447" } ] }, { "title": "Structural insights into the function of Elongator.", "journal": "Cellular and molecular life sciences : CMLS", "date": "2018", "authors": "Dalwadi U, Yip CK", "evidence": [ { "database": "UniProtKB", "id": "O95163", "url": "https://www.uniprot.org/uniprot/O95163" } ], "reference": [ { "type": "PubMed", "id": "29332244", "url": "https://glygen.org/publication/PubMed/29332244" } ] }, { "title": "Development of a Screening Platform to Identify Small Molecules That Modify ELP1 Pre-mRNA Splicing in Familial Dysautonomia.", "journal": "SLAS discovery : advancing life sciences R & D", "date": "2019", "authors": "Salani M, Urbina F, Brenner A, Morini E, Shetty R, Gallagher CS, Law EA, Sunshine S, Finneran DJ, Johnson G, Minor L, Slaugenhaupt SA", "evidence": [ { "database": "RefSeq", "id": "NP_001305289", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305289" } ], "reference": [ { "type": "PubMed", "id": "30085848", "url": "https://glygen.org/publication/PubMed/30085848" } ] }, { "title": "Combinatorial regulation of hepatic cytoplasmic signaling and nuclear transcriptional events by the OGT/REV-ERBalpha complex.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2018", "authors": "Berthier A, Vinod M, Porez G, Steenackers A, Alexandre J, Yamakawa N, Gheeraert C, Ploton M, Marechal X, Dubois-Chevalier J, Hovasse A, Schaeffer-Reiss C, Cianferani S, Rolando C, Bray F, Duez H, Eeckhoute J, Lefebvre T, Staels B, Lefebvre P", "evidence": [ { "database": "O-GlcNAc Database", "id": "O95163", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O95163" } ], "reference": [ { "type": "PubMed", "id": "30397120", "url": "https://glygen.org/publication/PubMed/30397120" } ] }, { "title": "ELP1 Splicing Correction Reverses Proprioceptive Sensory Loss in Familial Dysautonomia.", "journal": "American journal of human genetics", "date": "2019", "authors": "Morini E, Gao D, Montgomery CM, Salani M, Mazzasette C, Krussig TA, Swain B, Dietrich P, Narasimhan J, Gabbeta V, Dakka A, Hedrick J, Zhao X, Weetall M, Naryshkin NA, Wojtkiewicz GG, Ko CP, Talkowski ME, Dragatsis I, Slaugenhaupt SA", "evidence": [ { "database": "RefSeq", "id": "NP_001305289", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305289" } ], "reference": [ { "type": "PubMed", "id": "30905397", "url": "https://glygen.org/publication/PubMed/30905397" } ] }, { "title": "Potentially functional genetic variants in the TNF/TNFR signaling pathway genes predict survival of patients with non-small cell lung cancer in the PLCO cancer screening trial.", "journal": "Molecular carcinogenesis", "date": "2019", "authors": "Guo Y, Feng Y, Liu H, Luo S, Clarke JW, Moorman PG, Su L, Shen S, Christiani DC, Wei Q", "evidence": [ { "database": "RefSeq", "id": "NP_001305289", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305289" } ], "reference": [ { "type": 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"https://www.uniprot.org/uniprot/O95163" }, { "database": "RefSeq", "id": "NP_001305289", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305289" } ], "reference": [ { "type": "PubMed", "id": "32296180", "url": "https://glygen.org/publication/PubMed/32296180" } ] }, { "title": "Synthesis of Na2S2O4 mediated cleavable affinity tag for labeling of O-GlcNAc modified proteins via azide-alkyne cycloaddition.", "journal": "Bioorganic & medicinal chemistry letters", "date": "2021", "authors": "Wang J, Dou B, Zheng L, Cao W, Zeng X, Wen Y, Ma J, Li X", "evidence": [ { "database": "O-GlcNAc Database", "id": "O95163", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O95163" } ], "reference": [ { "type": "PubMed", "id": "34229054", "url": "https://glygen.org/publication/PubMed/34229054" } ] }, { "title": "Multi-comparative Thermal Proteome Profiling Uncovers New O-GlcNAc Proteins in a System-wide Method.", "journal": "Analytical chemistry", "date": "2022-12-29", "authors": "Wang Guoli, Li Yang, Wang Ting, Wang Jun, Yao Jun, Yan Guoquan, Zhang Ying, Lu Haojie", "evidence": [ { "database": "O-GlcNAc Database", "id": "O95163", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O95163" } ], "reference": [ { "type": "PubMed", "id": "36580660", "url": "https://glygen.org/publication/PubMed/36580660" } ] }, { "title": "Nucleosomal DNA regulates the core-histone-binding subunit of the human Hat1 acetyltransferase.", "journal": "Current biology : CB", "date": "1998", "authors": "Verreault A, Kaufman PD, Kobayashi R, Stillman B", "evidence": [ { "database": "Reactome", "id": "R-HSA-3214847", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3214847" } ], "reference": [ { "type": "PubMed", "id": "9427644", "url": "https://glygen.org/publication/PubMed/9427644" } ] }, { "title": "A novel fusion between MOZ and the nuclear receptor coactivator TIF2 in acute myeloid leukemia.", "journal": "Blood", "date": "1998", "authors": "Carapeti M, Aguiar RC, Goldman JM, Cross NC", "evidence": [ { "database": "Reactome", "id": "R-HSA-3214847", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3214847" } ], "reference": [ { "type": "PubMed", "id": "9558366", "url": "https://glygen.org/publication/PubMed/9558366" } ] }, { "title": "IKAP is a scaffold protein of the IkappaB kinase complex.", "journal": "Nature", "date": "1998", "authors": "Cohen L, Henzel WJ, Baeuerle PA", "evidence": [ { "database": "UniProtKB", "id": "O95163", "url": "https://www.uniprot.org/uniprot/O95163" } ], "reference": [ { "type": "PubMed", "id": "9751059", "url": "https://glygen.org/publication/PubMed/9751059" } ] }, { "title": "Overlapping but distinct patterns of histone acetylation by the human coactivators p300 and PCAF within nucleosomal substrates.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Schiltz RL, Mizzen CA, Vassilev A, Cook RG, Allis CD, Nakatani Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-3214847", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3214847" } ], "reference": [ { "type": "PubMed", "id": "9880483", "url": "https://glygen.org/publication/PubMed/9880483" } ] } ], "pathway": [ { "id": "hsa:8518", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:8518", "resource": "KEGG Pathway" }, { "id": "R-HSA-3214847", "name": "HATs acetylate histones", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3214847", "resource": "Reactome", "description": "HATs acetylate histones" } ], "orthologs": [ { "uniprot_canonical_ac": "Q06706-1", "protein_name": "Elongator complex protein 1", "gene_name": "IKI3", "tax_id": 559292, "organism": "Saccharomyces cerevisiae S288C", "sequence": { "sequence": "MVEHDKSGSKRQELRSNMRNLITLNKGKFKPTASTAEGDEDDLSFTLLDSVFDTLSDSITCVLGSTDIGAIEVQQFMKDGSRNVLASFNIQTFDDKLLSFVHFADINQLVFVFEQGDIITATYDPVSLDPAETLIEIMGTIDNGIAAAQWSYDEETLAMVTKDRNVVVLSKLFEPISEYHLEVDDLKISKHVTVGWGKKETQFRGKGARAMEREALASLKASGLVGNQLRDPTMPYMVDTGDVTALDSHEITISWRGDCDYFAVSSVEEVPDEDDETKSIKRRAFRVFSREGQLDSASEPVTGMEHQLSWKPQGSLIASIQRKTDLGEEDSVDVIFFERNGLRHGEFDTRLPLDEKVESVCWNSNSEALAVVLANRIQLWTSKNYHWYLKQELYASDISYVKWHPEKDFTLMFSDAGFINIVDFAYKMAQGPTLEPFDNGTSLVVDGRTVNITPLALANVPPPMYYRDFETPGNVLDVACSFSNEIYAAINKDVLIFAAVPSIEEMKKGKHPSIVCEFPKSEFTSEVDSLRQVAFINDSIVGVLLDTDNLSRIALLDIQDITQPTLITIVEVYDKIVLLRSDFDYNHLVYETRDGTVCQLDAEGQLMEITKFPQLVRDFRVKRVHNTSAEDDDNWSAESSELVAFGITNNGKLFANQVLLASAVTSLEITDSFLLFTTAQHNLQFVHLNSTDFKPLPLVEEGVEDERVRAIERGSILVSVIPSKSSVVLQATRGNLETIYPRIMVLAEVRKNIMAKRYKEAFIVCRTHRINLDILHDYAPELFIENLEVFINQIGRVDYLNLFISCLSEDDVTKTKYKETLYSGISKSFGMEPAPLTEMQIYMKKKMFDPKTSKVNKICDAVLNVLLSNPEYKKKYLQTIITAYASQNPQNLSAALKLISELENSEEKDSCVTYLCFLQDVNVVYKSALSLYDVSLALLVAQKSQMDPREYLPFLQELQDNEPLRRKFLIDDYLGNYEKALEHLSEIDKDGNVSEEVIDYVESHDLYKHGLALYRYDSEKQNVIYNIYAKHLSSNQMYTDAAVAYEMLGKLKEAMGAYQSAKRWREAMSIAVQKFPEEVESVAEELISSLTFEHRYVDAADIQLEYLDNVKEAVALYCKAYRYDIASLVAIKAKKDELLEEVVDPGLGEGFGIIAELLADCKGQINSQLRRLRELRAKKEENPYAFYGQETEQADDVSVAPSETSTQESFFTRYTGKTGGTAKTGASRRTAKNKRREERKRARGKKGTIYEEEYLVQSVGRLIERLNQTKPDAVRVVEGLCRRNMREQAHQIQKNFVEVLDLLKANVKEIYSISEKDRERVNENGEVYYIPEIPVPEIHDFPKSHIVDF", "length": 1349 }, "evidence": [ { "id": "O95163", "url": "https://omabrowser.org/oma/group/O95163/", "database": "OMA" } ], "common_name": "Yeast" }, { "uniprot_canonical_ac": "Q7TT37-1", "protein_name": "Elongator complex protein 1", "gene_name": "Elp1", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MRNLKLHRTLEFRDIQAPGKPQCFCLRAEQGTVLIGSERGLTEVDPVRREVKTEISLVAEGFLPEDGSGCIVGIQDLLDQESVCVATASGDVIVCNLSTQQLECVGSVASGISVMSWSPDQELLLLATAQQTLIMMTKDFEVIAEEQIHQDDFGEGKFVTVGWGSKQTQFHGSEGRPTAFPVQLPENALPWDDRRPHITWRGDGQYFAVSVVCRQTEARKIRVWNREFALQSTSESVPGLGPALAWKPSGSLIASTQDKPNQQDVVFFEKNGLLHGHFTLPFLKDEVKVNDLLWNADSSVLAIWLEDLPKEDSSTLKSYVQLWTVGNYHWYLKQSLPFSTTGKNQIVSLLWDPVTPCRLHVLCTGWRYLCCDWHWTTDRSSGNSANDLANVAVIDGNRVLVTVFRQTVVPPPMCTYRLLIPHPVNQVIFSAHLGNDLAVLDASNQISVYKCGDKPNMDSTVKLGAVGGNGFKVPLTTPHLEKRYSIQFGNNEEEEEEEVNALQLSFLTWVEDDTFLAISYSHSSSQSIIHHLTVTHSEVDEEQGQLDVSSSVTVDGVVIGLCCCSKTKSLAVQLADGQVLKYLWESPSLAVEPWKNSEGIPVRFVHPCTQMEVATIGGEECVLGLTDRCRFFINDTEVASNITSFAVCDDFLLVTTHSHTCQVFSLSGASLKMLQAALSGSHEASGEILRKVERGSRIVTVVPQDTKLILQMPRGNLEVVHHRALVLAQIRKWLDKLMFKEAFECMRKLRINLNLIHDHNPKVFLENVETFVKQIDSVNHINLFFTELREEDVTKTMYPPPITKSVQVSTHPDGKKLDLICDAMRAAMEAINPRKFCLSILTSHVKKTTPELEIVLQKVQELQGNLPFDPESVSVEEALKYLLLLVDVNELFNHSLGTYDFNLVLMVAEKSQKDPKEYLPFLNTLKKMETNYQRFTIDKYLKRYEKALGHLSKCGPEYFTECLNLIKDKNLYKEALKLYRPDSPQYQAVSMAYGEHLMQEHLYEPAGLVFARCGAQEKALEAFLACGSWQQALCVAAQLQMSKDKVAGLARTLAGKLVEQRKHSEAATVLEQYAQDYEEAVLLLLEGSAWEEALRLVYKYDRVDIIETSVKPSILEAQKNYMDFLDSETATFIRHKNRLQVVRALRRQAPQVHVDHEVAHGPESDLFSETSSIMSGSEMSGRYSHSNSRISARSSKNRRKAERKKHSLKEGSPLEGLALLEALSEVVQSVEKLKDEVRAILKVLFLFEFEEQAKELQRAFESTLQLMERAVPEIWTPAGQQSSTTPVLGPSSTANSITASYQQQKTCVPALDAGVYMPPKMDPRSQWKLSLLE", "length": 1333 }, "evidence": [ { "id": "45921951", "url": "http://www.informatics.jax.org/homology/45921951", "database": "MGI" }, { "id": "O95163", "url": "https://omabrowser.org/oma/group/O95163/", "database": "OMA" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "Q8VHU4-1", "protein_name": "Elongator complex protein 1", "gene_name": "Elp1", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": 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"length": 1331 }, "evidence": [ { "id": "45921951", "url": "http://www.informatics.jax.org/homology/45921951", "database": "MGI" } ], "common_name": "Rat" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 4, "go_terms": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "O95163", "url": "https://www.uniprot.org/uniprot/O95163" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "O95163", "url": "https://www.uniprot.org/uniprot/O95163" } ], "pmid": "" }, { "name": "elongator holoenzyme complex", "id": "GO:0033588", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033588", "evidence": [ { "database": "UniProtKB", "id": "O95163", "url": "https://www.uniprot.org/uniprot/O95163" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": 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"name": "Molecular Function", "total": 2, "go_terms": [ { "name": "protein self-association", "id": "GO:0043621", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043621", "evidence": [ { "database": "UniProtKB", "id": "O95163", "url": "https://www.uniprot.org/uniprot/O95163" } ], "pmid": "" }, { "name": "tRNA binding", "id": "GO:0000049", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000049", "evidence": [ { "database": "UniProtKB", "id": "O95163", "url": "https://www.uniprot.org/uniprot/O95163" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 1039, "end_pos": 1041, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1290, "end_pos": 1292, "annotation": "n_glycosylation_sequon" }, { "start_pos": 384, "end_pos": 386, "annotation": "n_glycosylation_sequon" }, { "start_pos": 546, "end_pos": 548, "annotation": "n_glycosylation_sequon" }, { "start_pos": 640, "end_pos": 642, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], 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