{ "uniprot_canonical_ac": "O60308-1", "uniprot_ac": "O60308", "uniprot_id": "CE104_HUMAN", "mass": { "chemical_mass": 104448.0, "monoisotopic_mass": 104448.0 }, "refseq": { "ac": "NP_055519", "name": "centrosomal protein of 104 kDa", "summary": "This gene encodes a centrosomal protein required for ciliogenesis and for ciliary tip structural integrity. The mammalian protein contains three amino-terminal hydrophobic domains, two glycosylation sites, four cysteine-rich motifs, and two regions with homology to the glutamate receptor ionotropic, NMDA 1 protein. During ciliogenesis, the encoded protein translocates from the distal tips of the centrioles to the tip of the elongating cilium. Knockdown of the protein in human retinal pigment cells results in severe defects in ciliogenesis with structural deformities at the ciliary tips. Allelic variants of this gene are associated with the autosomal-recessive disorder Joubert syndrome, which is characterized by a distinctive mid-hindbrain and cerebellar malformation, oculomotor apraxia, irregular breathing, developmental delay, and ataxia. [provided by RefSeq, Feb 2016].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055519" }, "gene_names": [ { "name": "CEP104", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O60308", "id": "O60308" }, { "name": "CEP104", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055519", "id": "NP_055519" }, { "name": "CFAP256; GlyBP; JBTS25; KIAA0562; MRT77; ROC22", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055519", "id": "NP_055519" }, { "name": "KIAA0562", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O60308", "id": "O60308" } ], "protein_names": [ { "name": "Centrosomal protein of 104 kDa", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O60308" }, { "name": "Cep104", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O60308" }, { "name": "centrosomal protein 104kDa", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055519", "id": "NP_055519" }, { "name": "centrosomal protein of 104 kDa", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055519", "id": "NP_055519" } ], "function": [ { "annotation": "CEP104 and CEP290; Genes with Ciliary Functions Cause Intellectual Disability in Multiple Families. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_055519", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055519" }, { "database": "PubMed", "id": "34196201", "url": "https://glygen.org/publication/PubMed/34196201" } ] }, { "annotation": "Mutations in CEP104 is associated with Joubert Syndrome.", "evidence": [ { "database": "RefSeq", "id": "NP_055519", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055519" }, { "database": "PubMed", "id": "26477546", "url": "https://glygen.org/publication/PubMed/26477546" } ] }, { "annotation": "Required for ciliogenesis and for structural integrity at the ciliary tip.", "evidence": [ { "database": "UniProtKB", "id": "O60308", "url": "https://www.uniprot.org/uniprot/O60308#function" }, { "database": "PubMed", "id": "23970417", "url": "https://glygen.org/publication/PubMed/23970417" } ] }, { "annotation": "Roles of TOG and jelly-roll domains of centrosomal protein CEP104 in its functions in cilium elongation and Hedgehog signaling.", "evidence": [ { "database": "RefSeq", "id": "NP_055519", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055519" }, { "database": "PubMed", "id": "32820051", "url": "https://glygen.org/publication/PubMed/32820051" } ] }, { "annotation": "Study identified two novel heterozygous mutations of CEP104 in a patient with Joubert syndrome, which were c.2364+1G>A and c.414delC (p.Asn138Lysfs*11) and consistent with the autosomal recessive inheritance mode.", "evidence": [ { "database": "RefSeq", "id": "NP_055519", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055519" }, { "database": "PubMed", "id": "31625690", "url": "https://glygen.org/publication/PubMed/31625690" } ] }, { "annotation": "This gene encodes a centrosomal protein required for ciliogenesis and for ciliary tip structural integrity. The mammalian protein contains three amino-terminal hydrophobic domains, two glycosylation sites, four cysteine-rich motifs, and two regions with homology to the glutamate receptor ionotropic, NMDA 1 protein. During ciliogenesis, the encoded protein translocates from the distal tips of the centrioles to the tip of the elongating cilium. Knockdown of the protein in human retinal pigment cells results in severe defects in ciliogenesis with structural deformities at the ciliary tips. Allelic variants of this gene are associated with the autosomal-recessive disorder Joubert syndrome, which is characterized by a distinctive mid-hindbrain and cerebellar malformation, oculomotor apraxia, irregular breathing, developmental delay, and ataxia. [provided by RefSeq, Feb 2016].", "evidence": [ { "database": "RefSeq", "id": "NP_055519", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055519" } ] } ], "disease": [ { "disease_id": "DOID:0081236", "recommended_name": { "id": "DOID:0081236", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0081236", "name": "autosomal recessive intellectual developmental disorder 77", "description": "An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay with variably impaired cognitive development apparent from infancy and that has_material_basis_in homozygous mutation in the CEP104 gene on chromosome 1p36." }, "synonyms": [ { "id": "MONDO:0031031", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0031031", "name": "intellectual developmental disorder, autosomal recessive 77", "description": "" }, { "id": "MONDO:0031031", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0031031", "name": "MRT77", "description": "" }, { "id": "MONDO:0031031", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0031031", "name": "intellectual developmental disorder, autosomal recessive 77", "description": "" }, { "id": "MIM:619988", "resource": "MIM", "url": "https://www.omim.org/entry/619988", "name": "Intellectual developmental disorder, autosomal recessive 77", "description": "Intellectual developmental disorder, autosomal recessive 77" } ], "evidence": [ { "id": "619988", "database": "MIM", "url": "https://www.omim.org/entry/619988" } ] }, { "disease_id": "DOID:0110994", "recommended_name": { "id": "DOID:0110994", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110994", "name": "Joubert syndrome 25", "description": "A Joubert syndrome characterized by delayed psychomotor development, oculomotor apraxia, and molar tooth sign on brain MRI that has_material_basis_in homozygous or compound heterozygous mutation in the CEP104 gene on chromosome 1p36." }, "synonyms": [ { "id": "DOID:0110994", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110994", "name": "JBTS25", "description": "" }, { "id": "MONDO:0014770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014770", "name": "Joubert syndrome 25", "description": "Any Joubert syndrome in which the cause of the disease is a mutation in the CEP104 gene." }, { "id": "MONDO:0014770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014770", "name": "CEP104 Joubert syndrome", "description": "" }, { "id": "MONDO:0014770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014770", "name": "JBTS25", "description": "" }, { "id": "MONDO:0014770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014770", "name": "Joubert syndrome 25", "description": "" }, { "id": "MONDO:0014770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014770", "name": "Joubert syndrome caused by mutation in CEP104", "description": "" }, { "id": "MONDO:0014770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014770", "name": "Joubert syndrome type 25", "description": "" }, { "id": "MIM:616781", "resource": "MIM", "url": "https://www.omim.org/entry/616781", "name": "Joubert syndrome 25", "description": "Joubert syndrome 25" } ], "evidence": [ { "id": "616781", "database": "MIM", "url": "https://www.omim.org/entry/616781" } ] } ], "snv": [ { "evidence": [ { "id": "rs763807562", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763807562" }, { "id": "rs763807562", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763807562" }, { "id": "rs763807562", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs763807562#frequency_tab" }, { "id": "rs763807562", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs763807562" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 151, "end_pos": 151, "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NII->NIT).", "chr_id": "1", "chr_pos": "3845326", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I151", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs754892174", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754892174" }, { "id": "rs754892174", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754892174" }, { "id": "rs754892174", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs754892174" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 159, "end_pos": 159, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DES->NES).", "chr_id": "1", "chr_pos": "3845303", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D159", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs766280930", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766280930" }, { "id": "rs766280930", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766280930" }, { "id": "rs766280930", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs766280930" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 161, "end_pos": 161, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SNT->NNT).", "chr_id": "1", "chr_pos": "3845296", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S161", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { 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Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": 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"http://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs537512159", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs537512159" }, { "id": "rs537512159", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs537512159" }, { "id": "rs537512159", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs537512159" }, { "id": "rs537512159", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs537512159#frequency_tab" }, { "id": "rs537512159", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs537512159" } ], "glycoeffect": [ 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"MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, 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"https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "No", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O60308", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60308" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor 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"https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", 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}, { "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 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Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "No", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O60308", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60308" } ], "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", 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60308" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ 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"name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60308", "url": "https://www.uniprot.org/uniprot/O60308" } ], "common_name": "Human" } ], "gene": [ { "name": "CEP104", "url": "https://www.uniprot.org/uniprot/O60308", "locus": { "chromosome": "1", "start_pos": 3812086, "end_pos": 3857396, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000116198", "url": "https://www.ensembl.org/id/ENSG00000116198" } ] } } ], "crossref": [ { "id": "ENSG00000116198", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000116198", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "O60308", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O60308", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "CEP104", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=CEP104", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "9731", "url": "https://www.ncbi.nlm.nih.gov/gene/9731", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "24866", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=24866", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "O60308", "url": "https://www.ebi.ac.uk/intact/interactors/id:O60308*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR008979", "url": "https://www.ebi.ac.uk/interpro/entry/IPR008979", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR011989", "url": "https://www.ebi.ac.uk/interpro/entry/IPR011989", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR016024", "url": "https://www.ebi.ac.uk/interpro/entry/IPR016024", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR034085", "url": "https://www.ebi.ac.uk/interpro/entry/IPR034085", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR048738", "url": "https://www.ebi.ac.uk/interpro/entry/IPR048738", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR048739", "url": "https://www.ebi.ac.uk/interpro/entry/IPR048739", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:9731", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:9731", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "616690", "url": "http://www.omim.org/entry/616690", "database": "MIM", "categories": [ "Other" ] }, { "id": "616781", "url": "http://www.omim.org/entry/616781", "database": "MIM", "categories": [ "Other" ] }, { "id": "619988", "url": "http://www.omim.org/entry/619988", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O60308", "url": "https://www.nextprot.org/entry/NX_O60308", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "O60308", "url": "https://oglcnac.org/atlas/detail/O60308", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "O60308", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60308", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "VQGNDYN", "url": "https://omabrowser.org/oma/group/VQGNDYN/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "3035798at2759", "url": "http://www.orthodb.org/?query=3035798at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR13371", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR13371", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR13371:SF0", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR13371:SF0", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "5LPH", "url": "https://www.rcsb.org/structure/5LPH", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5LPI", "url": "https://www.rcsb.org/structure/5LPI", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF21038", "url": "http://pfam.xfam.org/family/PF21038", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF21039", "url": "http://pfam.xfam.org/family/PF21039", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF21040", "url": "http://pfam.xfam.org/family/PF21040", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O60308", "url": "https://pharos.nih.gov/targets/O60308", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O60308", "url": "http://purl.obolibrary.org/obo/PR_O60308", "database": "PRO", "categories": [ "Protein" ] }, { "id": "NP_055519", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055519", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "A0A6Q8PFR4", "url": "https://www.uniprot.org/uniprot/A0A6Q8PFR4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PFR4-1", "url": "https://www.uniprot.org/uniprot/A0A6Q8PFR4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PG89", "url": "https://www.uniprot.org/uniprot/A0A6Q8PG89", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PG89-1", "url": "https://www.uniprot.org/uniprot/A0A6Q8PG89-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PGB3", "url": "https://www.uniprot.org/uniprot/A0A6Q8PGB3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PGB3-1", "url": "https://www.uniprot.org/uniprot/A0A6Q8PGB3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PGF0", "url": "https://www.uniprot.org/uniprot/A0A6Q8PGF0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PGF0-1", "url": "https://www.uniprot.org/uniprot/A0A6Q8PGF0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PGQ7", "url": "https://www.uniprot.org/uniprot/A0A6Q8PGQ7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PGQ7-1", "url": "https://www.uniprot.org/uniprot/A0A6Q8PGQ7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PH14", "url": "https://www.uniprot.org/uniprot/A0A6Q8PH14", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PH14-1", "url": "https://www.uniprot.org/uniprot/A0A6Q8PH14-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PH38", "url": "https://www.uniprot.org/uniprot/A0A6Q8PH38", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PH38-1", "url": "https://www.uniprot.org/uniprot/A0A6Q8PH38-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PH69", "url": "https://www.uniprot.org/uniprot/A0A6Q8PH69", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PH69-1", "url": "https://www.uniprot.org/uniprot/A0A6Q8PH69-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PHE1", "url": "https://www.uniprot.org/uniprot/A0A6Q8PHE1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PHE1-1", "url": "https://www.uniprot.org/uniprot/A0A6Q8PHE1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PHR0", "url": "https://www.uniprot.org/uniprot/A0A6Q8PHR0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PHR0-1", "url": "https://www.uniprot.org/uniprot/A0A6Q8PHR0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "J3QLL3", "url": "https://www.uniprot.org/uniprot/J3QLL3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "J3QLL3-1", "url": "https://www.uniprot.org/uniprot/J3QLL3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O60308", "url": "https://www.uniprot.org/uniprot/O60308", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O60308-1", "url": "https://www.uniprot.org/uniprot/O60308-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O60308-2", "url": "https://www.uniprot.org/uniprot/O60308-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O60308-3", "url": "https://www.uniprot.org/uniprot/O60308-3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q5SR27", "url": "https://www.uniprot.org/uniprot/Q5SR27", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q5SR27-1", "url": "https://www.uniprot.org/uniprot/Q5SR27-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MPHKIGFVVVSSSGHEDGFSARELMIHAPTVSGWRSPRFCQFPQEIVLQMVERCRIRKLQLLAHQYMISSKIEFYISESLPEYFAPYQAERFRRLGYVSLCDNEKTGCKARELKSVYVDAVGQFLKLIFHQNHVNKYNIYNQVALVAINIIGDPADFSDESNTASREKLIDHYLGHNSEDPALEGTYARKSDYISPLDDLAFDMYQDPEVAQIIRKLDERKREAVQKERYDYAKKLKQAIADLQKVGERLGRYEVEKRCAVEKEDYDLAKEKKQQMEQYRAEVYEQLELHSLLDAELMRRPFDLPLQPLARSGSPCHQKPMPSLPQLEERGTENQFAEPFLQEKPSSYSLTISPQHSAVDPLLPATDPHPKINAESLPYDERPLPAIRKHYGEAVVEPEMSNADISDARRGGMLGEPEPLTEKALREASSAIDVLGETLVAEAYCKTWSYREDALLALSKKLMEMPVGTPKEDLKNTLRASVFLVRRAIKDIVTSVFQASLKLLKMIITQYIPKHKLSKLETAHCVERTIPVLLTRTGDSSARLRVTAANFIQEMALFKEVKSLQIIPSYLVQPLKANSSVHLAMSQMGLLARLLKDLGTGSSGFTIDNVMKFSVSALEHRVYEVRETAVRIILDMYRQHQASILEYLPPDDSNTRRNILYKTIFEGFAKIDGRATDAEMRARRKAATEEAEKQKKEEIKALQGQLAALKEIQAEVQEKESDAVKPKNQDIQGGKAAPAEALGIPDEHYLDNLCIFCGERSESFTEEGLDLHYWKHCLMLTRCDHCKQVVEISSLTEHLLTECDKKDGFGKCYRCSEAVFKEELPRHIKHKDCNPAKPEKLANRCPLCHENFSPGEEAWKAHLMGPAGCTMNLRKTHILQKAPALQPGKSSAVAASGPLGSKAGSKIPTPKGGLSKSSSRTYAKR", "length": 925, "header": "sp|O60308-1|CE104_HUMAN Isoform 1 of Centrosomal protein of 104 kDa OS=Homo sapiens OX=9606 GN=CEP104 PE=1 SV=1 CANONICAL=O60308-1" }, "isoforms": [ { "isoform_ac": "A0A6Q8PFR4-1", "url": "", "sequence": { "sequence": "MPHKIGFVVVSSSGHEDGFSARELMIHAPTVSGWRSPRFCQFPQEIVLQMVERCRIRKLQLLAHQYMISSKIEFYISESLPEYFAPYQAERFRRLGYVSLCDNEKTGCKARELKSVYVDAVGQFLKLIFHQNHVNKYNIYNQVALVAINIIGDPADFSDESNTASREKLIDHYLGHNSEDPALEGTYARKSDYISPLDDLAFDMYQDPEVAQIIRKLDERKREAVQKERYDYAKKLKQAIADLQKVGERLGRYEVEKRCAVEKEDYDLAKEKKQQMEQYRAEVYEQLELHSLLDAELMRRPFDLPLQPLARSGSPCHQKPMPSLPQLEERGTENQFAEPFLQEKPSSYSLTISPQHSAVDPLLPATDPHPKINVAEAYCKTWSYREDALLALSKKLMEMPVGTPKEDLKNTLRASVFLVRRAIKDIVTSVFQASLKLLKMIITQYIPKHKLSKLETAHCVERTIPVLLTRTGDSSARLRVTAANFIQEMALFKEVKSLQIIPSYLVQPLKANSSVHLAMSQMGLLARLLKDLGTGSSGFTIDNVMKFSVSALEHRVYEVRETAVRIILDMYRQHQASILEYLPPDDSNTRRNILYKTIFEGFAKIDGRATDAEMRARRKAATEEAEKQKKEEIKALQGQLAALKEIQAEVQEKESDAVKPKNQDIQGGKAAPAEALGIPDEHYLDNLCIFCGERSESFTEEGLDLHYWKHCLMLTRCDHCKQVVEISSLTEHLLTECDKKDGFGKCYRCSEAVFKEELPRHIKHKDCNPAKPEKLANRCPLCHENFSPGEEAWKAHLMGPAGCTMNLRKTHILQKAPALQPGKSSAVAASGPLGSKAGSKIPTPKGGLSKSSSRTYAKR", "length": 859, "header": "tr|A0A6Q8PFR4-1|A0A6Q8PFR4_HUMAN Computationally mapped isoform of Centrosomal protein 104 OS=Homo sapiens OX=9606 GN=CEP104 PE=1 SV=1 CANONICAL=O60308-1" }, "locus": { "chromosome": "1", "start_pos": 3852407, "end_pos": 3815405, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000675677.1", "url": "https://www.ensembl.org/id/ENST00000675677.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000501944.1", "url": "https://www.ensembl.org/id/ENSP00000501944.1" } ] } }, { "isoform_ac": "A0A6Q8PG89-1", "url": "", "sequence": { "sequence": "MPHKIGFVVVSSSGHEDGFSARELMIHAPTVSGWRSPSGSRLQSQLLRMLRQEDPLSPEVQGCHEL", "length": 66, "header": "tr|A0A6Q8PG89-1|CE104_HUMAN Computationally mapped isoform of Centrosomal protein of 104 kDa OS=Homo sapiens OX=9606 GN=CEP104 PE=1 SV=1 CANONICAL=O60308-1" }, "locus": { "chromosome": "1", "start_pos": 3852407, "end_pos": 3851718, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000675108.1", "url": "https://www.ensembl.org/id/ENST00000675108.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000502131.1", "url": "https://www.ensembl.org/id/ENSP00000502131.1" } ] } }, { "isoform_ac": "A0A6Q8PGB3-1", "url": "", "sequence": { "sequence": "MPHKIGFVVVSSSGHEDGFSARELMIHAPTVSGWRSPRFCQFPQEIVLQMVERCRIRKLQLLAHQYMISSKIEFYISESLPEYFAPYQAERFRRLGYVSLCDNEKTGCKARELKSVYVDAVGQFLKLIFHQNHVNKYNIYNQVALVAINIIGDPADFSDESNTASREKLIDHYLGHNSEDPALEGTYARKSDYISPLDDLAFDMYQDPEVAQIIRKLDERKREAVQKERYDYAKKLKQAIADLQKVGERLGRYEVEKRCAVEKEDYDLAKEKKQQMEQYRAEVYEQLELHSLLDAELHSAVDPLLPATDPHPKINAESLPYDERPLPAIRKHYGEAVVEPEMSNADISDARRGGMLGEPEPLTEKALREASSAIDVLGETLVAEAYCKTWSYREDALLALSKKLMEMPVGTPKEDLKNTLRASVFLVRRAIKDIVTSVFQASLKLLKMIITQYIPKHKLSKLETAHCVERTIPVLLTRTGDSSARLRVTAANFIQEMALFKEVKSLQIIPSYLVQPLKANSSVHLAMSQMGLLARLLKDLGTGSSGFTIDNVMKFSVSALEHRVYEVRETAVRIILDMYRQHQASILEYLPPDDSNTRRNILYKTIFEGFAKIDGRATDAEMRARRKAATEEAEKQKKEEIKALQGQLAALKEIQAEVQEKESDAVKPKNQDIQGGKAAPAEALGIPDEHYLDNLCIFCGERSESFTEEGLDLHYWKHCLMLTRCDHCKQVVEISSLTEHLLTECDKKDGFGKCYRCSEAVFKEELPRHIKHKDCNPAKPEKLANRCPLCHENFSPGEEAWKAHLMGPAGCTMNLRKTHILQKAPALQPGKSSAVAASGPLGSKAGSKIPTPKGGLSKSSSRTYAKR", "length": 867, "header": "tr|A0A6Q8PGB3-1|A0A6Q8PGB3_HUMAN Computationally mapped isoform of Centrosomal protein 104 OS=Homo sapiens OX=9606 GN=CEP104 PE=1 SV=1 CANONICAL=O60308-1" }, "locus": { "chromosome": "1", "start_pos": 3852407, "end_pos": 3815405, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000675375.1", "url": "https://www.ensembl.org/id/ENST00000675375.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000502180.1", "url": "https://www.ensembl.org/id/ENSP00000502180.1" } ] } }, { "isoform_ac": "A0A6Q8PGF0-1", "url": "", "sequence": { "sequence": "MPHKIGFVVVSSSGHEDGFSARELMIHAPTVSGWRSPRFCQFPQEIVLQMVERCRIRKLQLLAHQYMISSKIEFYISESLPEYFAPYQAERFRRLGYVSLCDNEKTGCKARELKSVYVDAVGQFLKLIFHQNHVNKYNIYNQVALVAINIIGDPADFSDESNTASREKLIDHYLGHNSEDPALEGTYARKSDYISPLDDLAFDMYQDPEVAQIIRKLDERKREAVQKERYDYAKKLKQAIADLQKVGERLGRYEVEKRCAVEKEDYDLAKEKKQQMEQYRAEVYEQLELHSLLDAELMRRPFDLPLQPLARSGSPCHQKPMPSLPQLEERGTENQFAEPFLQEKPSSYSLTISPQHSAVDPLLPATDPHPKINAESLPYDERPLPAIRKHYGEAVVEPEMSNADISDARRGGMLGEPEPLTEKALREASSAIDVLGETLVAEAYCKTWSYREDALLALSKKLMEMPVGTPKEDLKNTLRASVFLVRRAIKDIVTSVFQASLKLLKMIITQYIPKHKLSKLETAHCVERTIPVLLTRTGDSSARLRVTAANFIQEMALFKEVKSLQIIPSYLVQPLKANSSVHLAMSQMGLLARLLKDLGTGSSGFTIDNVMKFSVSALEHRVYEVRETAVRIILDMYRQHQASILEYLPPDDSNTRRNILYKTIFEGFAKIDGRATDAEMRARRKAATEEAEKQKKEEIKALQGQLAALKEIQAEVQTFKEGKQPLLKLWESRMSTI", "length": 737, "header": "tr|A0A6Q8PGF0-1|CE104_HUMAN Computationally mapped isoform of Centrosomal protein of 104 kDa OS=Homo sapiens OX=9606 GN=CEP104 PE=1 SV=1 CANONICAL=O60308-1" }, "locus": { "chromosome": "1", "start_pos": 3852407, "end_pos": 3826377, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000676009.1", "url": "https://www.ensembl.org/id/ENST00000676009.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000502246.1", "url": "https://www.ensembl.org/id/ENSP00000502246.1" } ] } }, { "isoform_ac": "A0A6Q8PGQ7-1", "url": "", "sequence": { "sequence": "MPHKIGFVVVSSSGHEDGFSARELMIHAPTVSGWRSPRFCQFPQEIVLQMVERCRIRKLQLLAHQYMISSKIEFYISESLPEYFAPYQAERFRRLGYVSLCDNEKTGCKARELKSVYVDAVGQFLKLIFHQNHVNKYNIYNQVALVAINIIGDPADFSDESNTASREKLIDHYLGHNSEDPALEGTYARVFKSP", "length": 194, "header": "tr|A0A6Q8PGQ7-1|CE104_HUMAN Computationally mapped isoform of Centrosomal protein of 104 kDa OS=Homo sapiens OX=9606 GN=CEP104 PE=1 SV=1 CANONICAL=O60308-1" }, "locus": { "chromosome": "1", "start_pos": 3852407, "end_pos": 3841154, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000675750.1", "url": "https://www.ensembl.org/id/ENST00000675750.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000502342.1", "url": "https://www.ensembl.org/id/ENSP00000502342.1" } ] } }, { "isoform_ac": "A0A6Q8PH14-1", "url": "", "sequence": { "sequence": "MPHKIGFVVVSSSGHEDGFSARELMIHAPTVSGWRSPRFCQFPQEIVLQMVERCRIRKLQLLAHQYMISSKIEFYISESLPEYFAPYQAERFRRLGYVSLCDNEKTGCKARELKSVYVDAVGQFLKLIFHQNHVNKYNIYNQVALVAINIIGDPADFSDESNTASREKLIDHYLGHNSEDPALEGTYARKSDYISPLDDLAFDMYQDPEVAQIIRKLDERKREAVQKERYDYAKKLKQAIADLQKVGERLGRYEVEKRCAVEKEDYDLAKEKKQQMEQYRAEVYEQLELHSLLDAELMRRPFDLPLQPLARSGSPCHQKPMPSLPQLEERGTENQFAEPFLQEKPSSYSLTISPQHSAVDPLLPATDPHPKINVGRVPALR", "length": 381, "header": "tr|A0A6Q8PH14-1|CE104_HUMAN Computationally mapped isoform of Centrosomal protein of 104 kDa OS=Homo sapiens OX=9606 GN=CEP104 PE=1 SV=1 CANONICAL=O60308-1" }, "locus": { "chromosome": "1", "start_pos": 3852407, "end_pos": 3836673, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000674985.1", "url": "https://www.ensembl.org/id/ENST00000674985.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000502482.1", "url": "https://www.ensembl.org/id/ENSP00000502482.1" } ] } }, { "isoform_ac": "A0A6Q8PH38-1", "url": "", "sequence": { "sequence": "MPHKIGFVVVSSSGHEDGFSARELMIHAPTVSGWRSPRFCQFPQEIVLQMVERCRIRKLQLLAHQYMISSKIEFYISESLPEYFAPYQAERFRRLGYVSLCDNEKTGCKARELKSVYVDAVGQFLKLIFHQNHVNKYNIYNQVALVAINIIGDPADFSDESNTASREKLIDHYLGHNSEDPALEGTYARKSDYISPLDDLAFDMYQDPEVAQIIRKLDERKREAVQKERYDYAKKLKQAIADLQKVGERLGRYEVEKRCAVEKEDYDLAKEKKQQMEQYRAEVYEQLELHSLLDAELHSAVDPLLPATDPHPKINAESLPYDERPLPAIRKHYGEAVVEPEMSNADISDARRGGMLGEPEPLTEKALREASSAIDVLGETLVAEAYCKTWSYREDALLALSKKLMEMPVGTPKEDLKNTLRASVFLVRRAIKDIVTSVFQASLKLLKMIITQYIPKHKLSKLETAHCVERTIPVLLTRTGDSSARLRVTAANFIQEMALFKEVKSLQIIPSYLVQPLKANSSVHLAMSQMGLLARLLKDLGTGSSGFTIDNVMKFSVSALEHRVYEVRETAVRIILDMYRQHQASILEYLPPDDSNTRRNILYKTIFEGFAKIDGRATDAEMRARRKAATEEAEKQKKEEIKALQGQLAALKEIQAEVQLSSHLQRQRRKISLTIKV", "length": 677, "header": "tr|A0A6Q8PH38-1|CE104_HUMAN Computationally mapped isoform of Centrosomal protein of 104 kDa OS=Homo sapiens OX=9606 GN=CEP104 PE=1 SV=1 CANONICAL=O60308-1" }, "locus": { "chromosome": "1", "start_pos": 3852407, "end_pos": 3828918, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000675200.1", "url": "https://www.ensembl.org/id/ENST00000675200.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000502512.1", "url": "https://www.ensembl.org/id/ENSP00000502512.1" } ] } }, { "isoform_ac": "A0A6Q8PH69-1", "url": "", "sequence": { "sequence": "MPHKIGFVVVSSSGHEDGFSARELMIHAPTVSGWRSPRFCQFPQEIVLQMVERCRIRKLQLLAHQYMISSKIEFYISESLPEYFAPYQAERFRRLGYVSLCDNEKTGCKARELKSVYVDAVGQFLKLIFHQNHVNKYNIYNQVALVAINIIGDPADFSDESNTASREKLIDHYLGHNSEDPALEGTYARKSDYISPLDDLAFDMYQDPEVAQIIRKLDERKREAVQKERYDYAKKLKQAIADLQKVGERLGRYEVEKRCAVEKEDYDLAKEKKQQMEQYRAEVYEQLELHSLLDAELMRRPFDLPLQPLARSGSPCHQKPMPSLPQLEERGTENQFAEPFLQEKPSSYSLTISPQHSAVDPLLPATDPHPKINAESLPYDERPLPAIRKHYGEAVVEPEMSNADISDARRGGMLGEPEPLTEKALREASSAIDVLGETLVAEAYCKTWSYREDALLALSKKLMEMPVGTPKEDLKNTLRASVFLVRRAIKDIVTSVFQASLKLLKMIITQYIPKHKLSKLETAHCVERTIPVLLTRTGDSSARLRVTAANFIQEMALFKEVKSLQIIPSYLVQPLKANSSVHLAMSQMGLLARLLKDLGTGSSGFTIDNVMKFSVSALEHRVYEVRETAVRIILDMYRQHQASILEYLPPDDSNTRRNILYKTIFEGFAKIDGRATDAEMRARRKAATEEAEKQKKEEIKALQGQLAALKEIQAEVQEKESDAVKPKNQDIQGGKAAPAEALGIPDEHYLDNLCIFCGERSESFTEEGLDLHYWKHCLMLTRCDHCKQVVEISSLTEHLLTECDKKDGFGKCYRCSEAVFKEELPRHIKHKDCNRMESSPDGPSRLHDEPAQDTHSAEGPGTAAREKLSCGRIRPLGVKGRKQDPHPEGRTEQELQQDVRQALTRRSGSLVSVRDGAGLLILHHLSRTLWPWWPHALAAVPSSPPCTPLTRLCRQLSCKRYGCS", "length": 964, "header": "tr|A0A6Q8PH69-1|CE104_HUMAN Computationally mapped isoform of Centrosomal protein of 104 kDa OS=Homo sapiens OX=9606 GN=CEP104 PE=1 SV=1 CANONICAL=O60308-1" }, "locus": { "chromosome": "1", "start_pos": 3852407, "end_pos": 3815220, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000675666.1", "url": "https://www.ensembl.org/id/ENST00000675666.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000502548.1", "url": "https://www.ensembl.org/id/ENSP00000502548.1" } ] } }, { "isoform_ac": "A0A6Q8PHE1-1", "url": "", "sequence": { "sequence": "MPHKIGFVVVSSSGHEDGFSARELMIHAPTVSGWRSPSYVSLCDNEKTGCKARELKSVYVDAVGQFLKLIFHQNHVNKYNIYNQVALVAINIIGDPADFSDESNTASREKLIDHYLGHNSEDPALEGTYARKSDYISPLDDLAFDMYQDPEVAQIIRKLDERKREAVQKERYDYAKKLKQAIADLQKVGERLGRYEVEKRCAVEKEDYDLAKEKKQQMEQYRAEVYEQLELHSLLDAELMRRPFDLPLQPLARSGSPCHQKPMPSLPQLEERGTENQFAEPFLQEKPSSYSLTISPQHSAVDPLLPATDPHPKINAESLPYDERPLPAIRKHYGEAVVEPEMSNADISDARRGGMLGEPEPLTEKALREASSAIDVLGETLVAEAYCKTWSYREDALLALSKKLMEMPVGTPKEDLKNTLRASVFLVRRAIKDIVTSVFQASLKLLKMIITQYIPKHKLSKLETAHCVERTIPVLLTRTGDSSARLRVTAANFIQEMALFKEVKSLQIIPSYLVQPLKANSSVHLAMSQMGLLARLLKDLGTGSSGFTIDNVMKFSVSALEHRVYEVRETAVRIILDMYRQHQASILEYLPPDDSNTRRNILYKTIFEGFAKIDGRATDAEMRARRKAATEEAEKQKKEEIKALQGQLAALKEIQAEVQEKESDAVKPKNQDIQGGKAAPAEALGIPDEHYLDNLCIFCGERSESFTEEGLDLHYWKHCLMLTRCDHCKQVVEISSLTEHLLTECDKKDGFGKCYRCSEAVFKEELPRHIKHKDCNPAKPEKLANRCPLCHENFSPGEEAWKAHLMGPAGCTMNLRKTHILQKAPALQPGKSSAVAASGPLGSKAGSKIPTPKGGLSKSSSRTYAKR", "length": 867, "header": "tr|A0A6Q8PHE1-1|CE104_HUMAN Computationally mapped isoform of Centrosomal protein of 104 kDa OS=Homo sapiens OX=9606 GN=CEP104 PE=1 SV=1 CANONICAL=O60308-1" }, "locus": { "chromosome": "1", "start_pos": 3852407, "end_pos": 3815405, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000674544.1", "url": "https://www.ensembl.org/id/ENST00000674544.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000502641.1", "url": "https://www.ensembl.org/id/ENSP00000502641.1" } ] } }, { "isoform_ac": "A0A6Q8PHR0-1", "url": "", "sequence": { "sequence": "MPHKIGFVVVSSSGHEDGFSARELMIHAPTVSGWRSPRFCQFPQEIVLQMVERCRIRKLQLLAHQYMISSKIEFYISESLPEYFAPYQAERFRRLGCVLFFSYVSLCDNEKTGCKARELKSVYVDAVGQFLKLIFHQNHVNKYNIYNQVALVAINIIGDPADFSDESNTASREKLIDHYLGHNSEDPALEGTYARKSDYISPLDDLAFDMYQDPEVAQIIRKLDERKREAVQKERYDYAKKLKQAIADLQKVGERLGRYEVEKRCAVEKEDYDLAKEKKQQMEQYRAEVYEQLELHSLLDAELMRRPFDLPLQPLARSGSPCHQKPMPSLPQLEERGTENQFAEPFLQEKPSSYSLTISPQHSAVDPLLPATDPHPKINAESLPYDERPLPAIRKHYGEAVVEPEMSNADISDARRGGMLGEPEPLTEKALREASSAIDVLGETLVAEAYCKTWSYREDALLALSKKLMEMPVGTPKEDLKNTLRASVFLVRRAIKDIVTSVFQASLKLLKMIITQYIPKHKLSKLETAHCVERTIPVLLTRTGDSSARLRVTAANFIQEMALFKEVKSLQIIPSYLVQPLKANSSVHLAMSQMGLLARLLKDLGTGSSGFTIDNVMKFSVSALEHRVYEVRETAVRIILDMYRQHQASILEYLPPDDSNTRRNILYKTIFEGFAKIDGRATDAEMRARRKAATEEAEKQKKEEIKALQGQLAALKEIQAEVQEKESDAVKPKNQDIQGGKAAPAEALGIPDEHYLDNLCIFCGERSESFTEEGLDLHYWKHCLMLTRCDHCKQVVEISSLTEHLLTECDKKDGFGKCYRCSEAVFKEELPRHIKHKDCNPAKPEKLANRCPLCHENFSPGEEAWKAHLMGPAGCTMNLRKTHILQKAPALQPGKSSAVAASGPLGSKAGSKIPTPKGGLSKSSSRTYAKR", "length": 931, "header": "tr|A0A6Q8PHR0-1|CE104_HUMAN Computationally mapped isoform of Centrosomal protein of 104 kDa OS=Homo sapiens OX=9606 GN=CEP104 PE=1 SV=1 CANONICAL=O60308-1" }, "locus": { "chromosome": "1", "start_pos": 3852407, "end_pos": 3815405, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000676052.1", "url": "https://www.ensembl.org/id/ENST00000676052.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000502793.1", "url": "https://www.ensembl.org/id/ENSP00000502793.1" } ] } }, { "isoform_ac": "J3QLL3-1", "url": "", "sequence": { "sequence": "MPHKIGFVVVSSSGHEDGFSARELMIHAPTVSGWRSPRFCQFPQEIVLQMVERCRIRKLQLLAHQYMISSKIEFYISESLPEYFAPYQAERFRRLGYVSLCDNEKTGCKARELKSVYVDAVGQFLKLIFHQNHVNKYNIYNQVALVAINIIGDPADFSDESNTASREKLIDHYLGHNSEDPALEGTYARKSDYISPLDDLAFDMYQDPEVAQIIRKLDERKREAVQKERYDYAKKLKQAIADLQKVGERLGRYEVEKRCAVEKEDYDLAKEKKQQMEQYRAEVYEQLELHSLLDAELMRRPFDLPLQPLARSGSPCHQKPMPSLPQLEERGTENQFAEPFLQEKPSSYSLTISPQHSAVDPLLPATDPHPKINAESLPYDERPLPAIRKHYGEAVVEPEMSNADISDARRGGMLGEPEPLTEKALREASSAIDVLGETLVAEAYCKTWSYREDALLALSKKLMEMPVGTPKEDLKNTLRASVFLVRRAIKDIVTSVFQASLKLLKMIITQYIPKHKLSKLETAHCVERTIPVLLTRTGDSSARLRVTAANFIQEMALFKEVKSLQIIPSYLVQPLKANSSVHLAMSQMGLLARLLKDLGTGSSGFTIDNVMKFSVSALEHRVYEVRETAVRIILDMYRQHQASILEYLPPDDSNTRRNILYKTIFEGFAKIDGRATDAEMRARRKAATEEAEKQKKEEIKALQGQLAALKEIQAEVQEKESDAVKPKNQDIQGGKAAPAEALGIPDEHYLDNLCIFCGERSESFTEEGLDLHYWKHCLMLTRCDHCKQVVEISSLTEHLLTECDKKDGFGKCYRCSEAVFKEELPRHIKHKDCNPAKPEKLANRCPLCHENFSPGEEVRGLGRRDQ", "length": 866, "header": "tr|J3QLL3-1|CE104_HUMAN Computationally mapped isoform of Centrosomal protein of 104 kDa OS=Homo sapiens OX=9606 GN=CEP104 PE=1 SV=2 CANONICAL=O60308-1" }, "locus": { "chromosome": "1", "start_pos": 3852407, "end_pos": 3823147, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000461667.2", "url": "https://www.ensembl.org/id/ENST00000461667.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000463605.2", "url": "https://www.ensembl.org/id/ENSP00000463605.2" } ] } }, { "isoform_ac": "O60308-1", "url": "", "sequence": { "sequence": "MPHKIGFVVVSSSGHEDGFSARELMIHAPTVSGWRSPRFCQFPQEIVLQMVERCRIRKLQLLAHQYMISSKIEFYISESLPEYFAPYQAERFRRLGYVSLCDNEKTGCKARELKSVYVDAVGQFLKLIFHQNHVNKYNIYNQVALVAINIIGDPADFSDESNTASREKLIDHYLGHNSEDPALEGTYARKSDYISPLDDLAFDMYQDPEVAQIIRKLDERKREAVQKERYDYAKKLKQAIADLQKVGERLGRYEVEKRCAVEKEDYDLAKEKKQQMEQYRAEVYEQLELHSLLDAELMRRPFDLPLQPLARSGSPCHQKPMPSLPQLEERGTENQFAEPFLQEKPSSYSLTISPQHSAVDPLLPATDPHPKINAESLPYDERPLPAIRKHYGEAVVEPEMSNADISDARRGGMLGEPEPLTEKALREASSAIDVLGETLVAEAYCKTWSYREDALLALSKKLMEMPVGTPKEDLKNTLRASVFLVRRAIKDIVTSVFQASLKLLKMIITQYIPKHKLSKLETAHCVERTIPVLLTRTGDSSARLRVTAANFIQEMALFKEVKSLQIIPSYLVQPLKANSSVHLAMSQMGLLARLLKDLGTGSSGFTIDNVMKFSVSALEHRVYEVRETAVRIILDMYRQHQASILEYLPPDDSNTRRNILYKTIFEGFAKIDGRATDAEMRARRKAATEEAEKQKKEEIKALQGQLAALKEIQAEVQEKESDAVKPKNQDIQGGKAAPAEALGIPDEHYLDNLCIFCGERSESFTEEGLDLHYWKHCLMLTRCDHCKQVVEISSLTEHLLTECDKKDGFGKCYRCSEAVFKEELPRHIKHKDCNPAKPEKLANRCPLCHENFSPGEEAWKAHLMGPAGCTMNLRKTHILQKAPALQPGKSSAVAASGPLGSKAGSKIPTPKGGLSKSSSRTYAKR", "length": 925, "header": "sp|O60308-1|CE104_HUMAN Isoform 1 of Centrosomal protein of 104 kDa OS=Homo sapiens OX=9606 GN=CEP104 PE=1 SV=1 CANONICAL=O60308-1" }, "locus": { "chromosome": "1", "start_pos": 3852407, "end_pos": 3815405, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000674558.1", "url": "https://www.ensembl.org/id/ENST00000674558.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000501829.1", "url": "https://www.ensembl.org/id/ENSP00000501829.1" } ] } }, { "isoform_ac": "O60308-2", "url": "", "sequence": { "sequence": "MPHKIGFVVVSSSGHEDGFSARELMIHAPTVSGWRSPRFCQFPQEIVLQMVERCRIRKLQLLAHQYMISSKIEFYISESLPEYFAPYQAERFRRLGYVSLCDNEKTGCKARELKSVYVDAVGQFLKLIFHQNHVNKYNIYNQVALVAINIIGDPADFSDESNTASREKLIDHYLGHNSEDPALEGTYASSVRTGGESTFGELKGPAVPSSVTLSVLGTSLGQWFPCHLPAVDDNEGTPFQRCLV", "length": 244, "header": "sp|O60308-2|CE104_HUMAN Isoform 2 of Centrosomal protein of 104 kDa OS=Homo sapiens OX=9606 GN=CEP104 PE=1 SV=1 CANONICAL=O60308-1" }, "locus": { "chromosome": "1", "start_pos": 3852407, "end_pos": 3843158, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000378223.3", "url": "https://www.ensembl.org/id/ENST00000378223.3" }, { "database": "Ensembl Peptide", "id": "ENSP00000367468.3", "url": "https://www.ensembl.org/id/ENSP00000367468.3" } ] } }, { "isoform_ac": "O60308-3", "url": "", "sequence": { "sequence": "MPHKIGFVVVSSSGHEDGFSARELMIHAPTVSGWRSPRFCQFPQEIVLQMVERCRIRKLQLLAHQYMISSKIEFYISESLPEYFAPYQAERFRRLGYVSLCDNEKTGCKARELKSVYVDAVGQFLKLIFHQNHVNKYNIYNQVALVAINIIGDPADFSDESNTASREKLIDHYLGHNSEDPALEGTYARKSDYISPLDDLAFDMYQDPEVAQIIRKLDERKREAVQKERYDYAKKLKQAIADLQKVGERLGRYEVEKRCAVEKEDYDLAKEKKQQMEQYRAEVYEQLELHSLLDAELMRRPFDLPLQPLARSGSPCHQKPMPSLPQLEERGTENQFAEPFLQEKPSSYSLTISPQHSAVDPLLPATDPHPKINAESLPYDERPLPAIRKHYGEAVVEPEMSNADISDARRGGMLGEPEPLTEKALREASSAIDVLGETLVAEAYCKTWSYREDALLALSKKLMEMPVGTPKEDLKNTLRASVFLVRRAIKDIVTSVFQASLKLLKMIITQYIPKHKLSKLETAHCVERTIPVLLTRTGDSSARLRVTAANFIQV", "length": 554, "header": "sp|O60308-3|CE104_HUMAN Isoform 3 of Centrosomal protein of 104 kDa OS=Homo sapiens OX=9606 GN=CEP104 PE=1 SV=1 CANONICAL=O60308-1" }, "locus": { "chromosome": "1", "start_pos": 3852407, "end_pos": 3833859, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000494653.5", "url": "https://www.ensembl.org/id/ENST00000494653.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000501736.1", "url": "https://www.ensembl.org/id/ENSP00000501736.1" } ] } }, { "isoform_ac": "Q5SR27-1", "url": "", "sequence": { "sequence": "MPHKIGFVVVSSSGHEDGFSARELMIHAPTVSGWRSPRFCQFPQEIVLQMVERCRIRKLQLLAHQYMISSKIEFYISESLPEYFAPYQAERFRRLGYVSLCDNEKTGCKARELKSVYVDAVGQFLKLIFHQNHVNKYNIYNQVALVAINIIGDPADFSDESNTASREKLIDHYLGHNSEDPALEGTYARKSDYISPLDDLAFDMYQDPEVAQIIRKLDERKREAVQKERYDYAKKLKQAIADLQKVGERLGRYEVEKRCAVEKEDYDLAKEKKQQMEQYRAEVYEQLELHSLLDAELMRRPFDLPLQPLARSGSPCHQKPMPSLPQLEERGTENQFAEPFLQEKPSSYSLTISPQHSAVDPLLPATDPHPKINAESLPYDERPLPAIRKHYGEAVVEPEMSNADISDARRGGMLGEPEPLTEKALREASSAIDVLGETLVAEAYCKTWSYREDALLALSKKLMEMPVGTPKEDLKNTLRASVFLVRRAIKDIVTSVFQASLKLLKMIITQYIPKHKLSKLETAHCVERTIPVLLTRTGDSSARLRVTAANFIQEMALFKEVKSLQIIPSYLVQPLKANSSVHLAMSQMGLLARLLKDLGTGSSGFTIDNVMKFSVSALEHRVYEVRETAVRIILDMYRQHQASILEYLPPDDSNTRRNILYKTIFEGFAKIDGRATDAEMRARRKAATEEAEKQKKEEIKALQGQLAALKEIQAEVQEKESDAVKPKNQDIQGGKAAPAEALGIPDEHYLDNLCIFCGERSESFTEEGLDLHYWKHCLMLTRCDHCKQVVEISSLTEHLLTECDKKDGFGKCYRCSEAVFKEELPRHIKHKDCNPAKPEKLANRCPLCHENFSPGEEAWKAHLMGPAGCTMNLRKTHILQKAPALQPGEGQRR", "length": 893, "header": "tr|Q5SR27-1|Q5SR27_HUMAN Computationally mapped isoform of Centrosomal protein 104 OS=Homo sapiens OX=9606 GN=CEP104 PE=1 SV=2 CANONICAL=O60308-1" }, "locus": { "chromosome": "1", "start_pos": 3852407, "end_pos": 3816263, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000428079.6", "url": "https://www.ensembl.org/id/ENST00000428079.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000394989.2", "url": "https://www.ensembl.org/id/ENSP00000394989.2" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 890, "start_aa": "Ser", "end_pos": 890, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser890", "evidence": [ { "id": "O60308", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O60308" }, { "id": "21740066", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21740066" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 891, "start_aa": "Ser", "end_pos": 891, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser891", "evidence": [ { "id": "O60308", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O60308" }, { "id": "21740066", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21740066" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "O60308", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60308" }, { "id": "29485866", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29485866" } ] } ], "phosphorylation": [ { "start_pos": 459, "end_pos": 459, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O60308", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60308" }, { "database": "PubMed", "id": "35494241", "url": "" } ], "site_lbl": "Ser459" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Novel asymmetrically localizing components of human centrosomes identified by complementary proteomics methods.", "journal": "EMBO J.", "date": "2011", "authors": "Jakobsen Lis, Vanselow Katja, Skogs Marie, Toyoda Yusuke, Lundberg Emma, Poser Ina, Falkenby Lasse G, Bennetzen Martin, Westendorf Jens, Nigg Erich A, Uhlen Mathias, Hyman Anthony A, Andersen Jens S", "evidence": [ { "database": "UniProtKB", "id": "O60308", "url": "https://www.uniprot.org/uniprot/O60308" } ], "reference": [ { "type": "PubMed", "id": "21399614", "url": "https://glygen.org/publication/PubMed/21399614" } ] }, { "title": "Combining high-energy C-trap dissociation and electron transfer dissociation for protein O-GlcNAc modification site assignment.", "journal": "Journal of proteome research", "date": "2011", "authors": "Zhao P, Viner R, Teo CF, Boons GJ, Horn D, Wells L", "evidence": [ { "database": "O-GlcNAc Atlas", "id": "O60308", "url": "https://oglcnac.org/atlas/detail/O60308" } ], "reference": [ { "type": "PubMed", "id": "21740066", "url": "https://glygen.org/publication/PubMed/21740066" } ] }, { "title": "A proteome-wide screen for mammalian SxIP motif-containing microtubule plus-end tracking proteins.", "journal": "Curr. Biol.", "date": "2012", "authors": "Jiang Kai, Toedt Grischa, Montenegro Gouveia Susana, Davey Norman E, Hua Shasha, van der Vaart Babet, Grigoriev Ilya, Larsen Jesper, Pedersen Lotte B, Bezstarosti Karel, Lince-Faria Mariana, Demmers Jeroen, Steinmetz Michel O, Gibson Toby J, Akhmanova Anna", "evidence": [ { "database": "UniProtKB", "id": "O60308", "url": "https://www.uniprot.org/uniprot/O60308" } ], "reference": [ { "type": "PubMed", "id": "22885064", "url": "https://glygen.org/publication/PubMed/22885064" } ] }, { "title": "Centrosomal protein CEP104 (Chlamydomonas FAP256) moves to the ciliary tip during ciliary assembly.", "journal": "Journal of cell science", "date": "2013", "authors": "Satish Tammana TV, Tammana D, Diener DR, Rosenbaum J", "evidence": [ { "database": "UniProtKB", "id": "O60308", "url": "https://www.uniprot.org/uniprot/O60308" } ], "reference": [ { "type": "PubMed", "id": "23970417", "url": "https://glygen.org/publication/PubMed/23970417" } ] }, { "title": "Joubert Syndrome in French Canadians and Identification of Mutations in CEP104.", "journal": "Am. J. Hum. Genet.", "date": "2015", "authors": "Srour M, Hamdan FF, McKnight D, Davis E, Mandel H, Schwartzentruber J, Martin B, Patry L, Nassif C, Dionne-Laporte A, Ospina LH, Lemyre E, Massicotte C, Laframboise R, Maranda B, Labuda D, Decarie JC, Rypens F, Goldsher D, Fallet-Bianco C, Soucy JF, Laberge AM, Maftei C, Boycott K, Brais B, Boucher RM, Rouleau GA, Katsanis N, Majewski J, Elpeleg O, Kukolich MK, Shalev S, Michaud JL", "evidence": [ { "database": "UniProtKB", "id": "O60308", "url": "https://www.uniprot.org/uniprot/O60308" }, { "database": "RefSeq", "id": "NP_055519", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055519" } ], "reference": [ { "type": "PubMed", "id": "26477546", "url": "https://glygen.org/publication/PubMed/26477546" } ] }, { "title": "O-GlcNAc Transferase Recognizes Protein Substrates Using an Asparagine Ladder in the Tetratricopeptide Repeat (TPR) Superhelix.", "journal": "Journal of the American Chemical Society", "date": "2018", "authors": "Levine ZG, Fan C, Melicher MS, Orman M, Benjamin T, Walker S", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60308", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60308" } ], "reference": [ { "type": "PubMed", "id": "29485866", "url": "https://glygen.org/publication/PubMed/29485866" } ] }, { "title": "Whole exome sequencing reveals novel CEP104 mutations in a Chinese patient with Joubert syndrome.", "journal": "Molecular genetics & genomic medicine", "date": "2019", "authors": "Luo M, Cao L, Cao Z, Ma S, Shen Y, Yang D, Lu C, Lin Z, Liu Z, Yu Y, Cai R, Chen C, Gao H, Wang X, Cao M, Ma X", "evidence": [ { "database": "RefSeq", "id": "NP_055519", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055519" } ], "reference": [ { "type": "PubMed", "id": "31625690", "url": "https://glygen.org/publication/PubMed/31625690" } ] }, { "title": "Dysfunction of the ciliary ARMC9/TOGARAM1 protein module causes Joubert syndrome.", "journal": "J. Clin. Invest.", "date": "2020", "authors": "Latour BL, Van De Weghe JC, Rusterholz TD, Letteboer SJ, Gomez A, Shaheen R, Gesemann M, Karamzade A, Asadollahi M, Barroso-Gil M, Chitre M, Grout ME, van Reeuwijk J, van Beersum SE, Miller CV, Dempsey JC, Morsy H, Bamshad MJ, Nickerson DA, Neuhauss SC, Boldt K, Ueffing M, Keramatipour M, Sayer JA, Alkuraya FS, Bachmann-Gagescu R, Roepman R, Doherty D", "evidence": [ { "database": "UniProtKB", "id": "O60308", "url": "https://www.uniprot.org/uniprot/O60308" } ], "reference": [ { "type": "PubMed", "id": "32453716", "url": "https://glygen.org/publication/PubMed/32453716" } ] }, { "title": "Roles of TOG and jelly-roll domains of centrosomal protein CEP104 in its functions in cilium elongation and Hedgehog signaling.", "journal": "The Journal of biological chemistry", "date": "2020", "authors": "Yamazoe T, Nagai T, Umeda S, Sugaya Y, Mizuno K", "evidence": [ { "database": "RefSeq", "id": "NP_055519", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055519" } ], "reference": [ { "type": "PubMed", "id": "32820051", "url": "https://glygen.org/publication/PubMed/32820051" } ] }, { "title": "CEP104 and CEP290; Genes with Ciliary Functions Cause Intellectual Disability in Multiple Families.", "journal": "Arch. Iran. Med.", "date": "2021", "authors": "Khoshbakht S, Beheshtian M, Fattahi Z, Bazazzadegan N, Parsimehr E, Fadaee M, Vazehan R, Faraji Zonooz M, Abolhassani A, Makvand M, Kariminejad A, Celik A, Kahrizi K, Najmabadi H", "evidence": [ { "database": "UniProtKB", "id": "O60308", "url": "https://www.uniprot.org/uniprot/O60308" }, { "database": "RefSeq", "id": "NP_055519", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055519" } ], "reference": [ { "type": "PubMed", "id": "34196201", "url": "https://glygen.org/publication/PubMed/34196201" } ] }, { "title": "CEP104 gene may involve in the pathogenesis of a new developmental disorder other than joubert syndrome.", "journal": "Molecular biology reports", "date": "2022-08", "authors": "Badv Reza Shervin, Mahdiannasser Mojdeh, Rasoulinezhad Maryam, Habibi Laleh, Rashidi-Nezhad Ali", "evidence": [ { "database": "UniProtKB", "id": "O60308", "url": "https://www.uniprot.org/uniprot/O60308" } ], "reference": [ { "type": "PubMed", "id": "35359234", "url": "https://glygen.org/publication/PubMed/35359234" } ] } ], "pathway": [ { "id": "hsa:9731", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:9731", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "D3Z8X7-1", "protein_name": "Centrosomal protein of 104 kDa", "gene_name": "Cep104", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MPHKIGFVVVSSSGHEDGFSARELMIHAPTVSGWRSPKFCQFPQEIVLQMVERCRIRKLQLLAHQYMISSKVEFYISESLPEYLVPYQAERFRRLGYVSLCDNEKTGCKARELKSVYVDAVGQFLKLIFHQTTNKYNVNQVALVAINIIGDPADLGDESNTTCREKLIDHYLGHSPHNPEDPALDGTFAGRSDYISPLDDLAFDMYQDPEVAQIIRRLDERKREAAKKERYDHAKKLKQAIADLQKVGERLGRYEVEKRRAVEKEDYDLAKEKKQQMARYRAQVYEQLELHGLLQGEPEMQRPFALPLQPLASPSSPQHWKAVSSLPRTEELAAEDTCAGPILQEKPLASSPRHSAVDRSPPAAGPAPRSHVEALPYDERPLPVTRKQLEEPSAEPEVREADSDVRRRGVSAEPEPLTEKALREASSAIDTLGEALVAGAYSKMWSCREDALLALYKRLMEMPVGTQKEDLKNMLRASVFLIRRAIKDIVTSVFQASLKLLKMIITQYIPKHKLGKLDTTYCVERAIPLLLARTGDSSARLRVMALNFIQEMALFKEVRSLQLIPSYLVQPLKTNASVHLAMSQVDLLARLLRDLGTEGSGFTVDNVMKFAVSALEHRVYEVRETAVRIILDMYRQHPALTLEHLPPDDSTTRRNLLYKAIFEGFAKIDGRPTEAEGKTQKRVVTKEAEKQKKEETKALQGLSAAPRETQAGVQEKENEAVKLKNQDPQGRKAAPPDTPEIPDNHYLDNLCIFCGERNESFTEEGLDLHYWKHCLMLTRCDHCRQVVEISSLTEHLLTECDKRDGFGKCPRCSEAVPKEELPRHIKTKECNPAKSEKVANRCPLCHENFAPGEEAWKVHLMGSAGCTMNLRKTHILCKAPAPQQGKGPMASKSGTSAPKVGSKIPTPKGGLSKSSSRTHTRR", "length": 922 }, "evidence": [ { "id": "45921275", "url": 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"http://www.informatics.jax.org/homology/45921275", "database": "MGI" }, { "id": "O60308", "url": "https://omabrowser.org/oma/group/O60308/", "database": "OMA" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "Q9VIU5-1", "protein_name": "GH24474p", "gene_name": "Dmel\\CG10137", "tax_id": 7227, "organism": "Drosophila melanogaster", "sequence": { "sequence": 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"https://omabrowser.org/oma/group/O60308/", "database": "OMA" } ], "common_name": "Fruit fly" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 5, "go_terms": [ { "name": "spindle pole", "id": "GO:0000922", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000922", "evidence": [ { "database": "UniProtKB", "id": "O60308", "url": "https://www.uniprot.org/uniprot/O60308" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "O60308", "url": "https://www.uniprot.org/uniprot/O60308" } ], "pmid": "" }, { "name": "centrosome", "id": "GO:0005813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005813", "evidence": [ { "database": "UniProtKB", "id": "O60308", "url": "https://www.uniprot.org/uniprot/O60308" } ], "pmid": "" }, { "name": "cilium", "id": "GO:0005929", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005929", "evidence": [ { "database": "UniProtKB", "id": "O60308", "url": "https://www.uniprot.org/uniprot/O60308" } ], "pmid": "" }, { "name": "centriole", "id": "GO:0005814", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005814", "evidence": [ { "database": "UniProtKB", "id": "O60308", "url": "https://www.uniprot.org/uniprot/O60308" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 578, "end_pos": 580, "annotation": "n_glycosylation_sequon" }, { "start_pos": 851, "end_pos": 853, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "sequence_features": { "n_linked_sites": [], "o_linked_sites": [ 890, 891 ], "snv_sites": [ 151, 159, 161, 164, 388, 761, 794, 874 ], "glycation_sites": [], "phosphorylation_sites": [ 459 ], "sequon_annotation_sites": [ { "start_pos": 578, "end_pos": 580 }, { "start_pos": 851, "end_pos": 853 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 3 }, { "field": "total_sites", "count": 3 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 3 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 3 }, { "field": "total_sites", "count": 3 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 3 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 9 }, { "field": "total_sites", "count": 8 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 3 }, { "field": "total_sites", "count": 3 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 6 }, { "field": "total_sites", "count": 6 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 11 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }