{ "uniprot_canonical_ac": "O95248-1", "uniprot_ac": "O95248", "uniprot_id": "MTMR5_HUMAN", "mass": { "chemical_mass": 208443.0, "monoisotopic_mass": 208443.0 }, "refseq": { "ac": "NP_002963", "name": "myotubularin-related protein 5 isoform 1", "summary": "This gene encodes a member of the protein-tyrosine phosphatase family. However, the encoded protein does not appear to be a catalytically active phosphatase because it lacks several amino acids in the catalytic pocket. This protein contains a Guanine nucleotide exchange factor (GEF) domain which is necessary for its role in growth and differentiation. Mutations in this gene have been associated with Charcot-Marie-Tooth disease 4B3. Pseudogenes of this gene have been defined on chromosomes 1 and 8. [provided by RefSeq, Dec 2014].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002963" }, "gene_names": [ { "name": "SBF1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O95248", "id": "O95248" }, { "name": "CMT4B3; DENND7A; MTMR5", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002963", "id": "NP_002963" }, { "name": "MTMR5", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O95248", "id": "O95248" }, { "name": "SBF1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002963", "id": "NP_002963" }, { "name": "hCG_16879", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O95248", "id": "O95248" } ], "protein_names": [ { "name": "Myotubularin-related protein 5", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O95248" }, { "name": "Inactive phosphatidylinositol 3-phosphatase 5", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95248" }, { "name": "SET-binding factor 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95248" }, { "name": "Sbf1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95248" }, { "name": "myotubularin-related protein 5 isoform 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002963", "id": "NP_002963" }, { "name": "myotubularin-related protein 5; DENN/MADD domain containing 7A; inactive phosphatidylinositol 3-phosphatase 5", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002963", "id": "NP_002963" } ], "function": [ { "annotation": "A (GCC) repeat in SBF1 reveals a novel biological phenomenon in human and links to late onset neurocognitive disorder. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_002963", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002963" }, { "database": "PubMed", "id": "36104480", "url": "https://glygen.org/publication/PubMed/36104480" } ] }, { "annotation": "A novel frameshift deletion in autosomal recessive SBF1-related syndromic neuropathy with necklace fibres.", "evidence": [ { "database": "RefSeq", "id": "NP_002963", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002963" }, { "database": "PubMed", "id": "32444983", "url": "https://glygen.org/publication/PubMed/32444983" } ] }, { "annotation": "Acts as an adapter for the phosphatase MTMR2 to regulate MTMR2 catalytic activity and subcellular location (PubMed:12668758). May function as a guanine nucleotide exchange factor (GEF) activating RAB28 (PubMed:20937701). Promotes the exchange of GDP to GTP, converting inactive GDP-bound Rab proteins into their active GTP-bound form (PubMed:20937701). Inhibits myoblast differentiation in vitro and induces oncogenic transformation in fibroblasts (PubMed:9537414).", "evidence": [ { "database": "UniProtKB", "id": "O95248", "url": "https://www.uniprot.org/uniprot/O95248#function" }, { "database": "PubMed", "id": "20937701", "url": "https://glygen.org/publication/PubMed/20937701" }, { "database": "PubMed", "id": "9537414", "url": "https://glygen.org/publication/PubMed/9537414" }, { "database": "PubMed", "id": "12668758", "url": "https://glygen.org/publication/PubMed/12668758" } ] }, { "annotation": "Novel sequence variants in SBF1 (c.1168C>G and c.2209_2210del) as the potential causative mutations in two siblings with severe axonal neuropathy, hearing loss, facial weakness and bulbar features.", "evidence": [ { "database": "RefSeq", "id": "NP_002963", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002963" }, { "database": "PubMed", "id": "28005197", "url": "https://glygen.org/publication/PubMed/28005197" } ] }, { "annotation": "SBF1 (MTMR5) belongs to the myotubularin family of phosphoinositides phosphatases-like", "evidence": [ { "database": "RefSeq", "id": "NP_002963", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002963" }, { "database": "PubMed", "id": "9736772", "url": "https://glygen.org/publication/PubMed/9736772" } ] }, { "annotation": "The novel SBF1 null mutation highlights distinct severe phenotypic manifestations, broadening the clinical spectrum of SBF1-related neuropathies: cerebellar and pyramidal signs evident in the first months of life with peripheral polyneuropathy emerging only toward the end of the first decade, together with unique MRI findings.", "evidence": [ { "database": "RefSeq", "id": "NP_002963", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002963" }, { "database": "PubMed", "id": "30039846", "url": "https://glygen.org/publication/PubMed/30039846" } ] }, { "annotation": "This gene encodes a member of the protein-tyrosine phosphatase family. However, the encoded protein does not appear to be a catalytically active phosphatase because it lacks several amino acids in the catalytic pocket. This protein contains a Guanine nucleotide exchange factor (GEF) domain which is necessary for its role in growth and differentiation. Mutations in this gene have been associated with Charcot-Marie-Tooth disease 4B3. Pseudogenes of this gene have been defined on chromosomes 1 and 8. [provided by RefSeq, Dec 2014].", "evidence": [ { "database": "RefSeq", "id": "NP_002963", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002963" } ] }, { "annotation": "ZNF195 and SBF1 are potential biomarkers for gemcitabine sensitivity in head and neck squamous cell carcinoma cell lines. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_002963", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002963" }, { "database": "PubMed", "id": "24817947", "url": "https://glygen.org/publication/PubMed/24817947" } ] } ], "disease": [ { "disease_id": "DOID:0110194", "recommended_name": { "id": "DOID:0110194", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110194", "name": "Charcot-Marie-Tooth disease type 4B3", "description": "A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous or compound heterozygous mutation in the SBF1 gene on chromosome 22q." }, "synonyms": [ { "id": "DOID:0110194", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110194", "name": "CMT4B3", "description": "" }, { "id": "MONDO:0014117", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014117", "name": "Charcot-Marie-Tooth disease type 4B3", "description": "Charcot-Marie-Tooth disease type 4B3 (CMT4B3) is a subtype of Charcot-Marie-Tooth type 4 characterized by a childhood onset of slowly progressing, demyelinating sensorimotor neuropathy, focally folded myelin sheaths in nerve biopsy, reduced nerve conduction velocities (less than 38 m/s), and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, and sensory loss)." }, { "id": "MONDO:0014117", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014117", "name": "CMT4B3", "description": "" }, { "id": "MONDO:0014117", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014117", "name": "Charcot-Marie-Tooth disease type 4 caused by mutation in SBF1", "description": "" }, { "id": "MONDO:0014117", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014117", "name": "Charcot-Marie-Tooth disease with focally folded myelin", "description": "" }, { "id": "MONDO:0014117", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014117", "name": "SBF1 Charcot-Marie-Tooth disease type 4", "description": "" }, { "id": "MONDO:0014117", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014117", "name": "Charcot-Marie-Tooth disease, type 4B3", "description": "" }, { "id": "MIM:615284", "resource": "MIM", "url": "https://www.omim.org/entry/615284", "name": "Charcot-Marie-Tooth disease 4B3", "description": "Charcot-Marie-Tooth disease 4B3" } ], "evidence": [ { "id": "615284", "database": "MIM", "url": "https://www.omim.org/entry/615284" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "82.02", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000100241", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100241" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "81.98", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000100241", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100241" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "82.37", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000100241", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100241" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "87.07", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000100241", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100241" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "92.7", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000100241", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100241" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "81.63", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000100241", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100241" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "72.73", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000100241", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100241" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "86.91", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000100241", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100241" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "96.42", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000100241", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100241" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "71.8", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000100241", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100241" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "82.01", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000100241", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100241" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "94.94", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000100241", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100241" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "91.46", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000100241", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100241" } ] } ], "expression_disease": [ { "significant": "No", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O95248", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95248" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, 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 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": "O95248", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95248" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "No", "trend": "down", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O95248", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95248" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "O95248", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95248" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "O95248", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95248" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine 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"resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "O95248", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95248" } ], "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": "O95248", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95248" } ], "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": "up", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "O95248", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95248" } ], "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": "O95248", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95248" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95248" } ], "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ] }, { "significant": "No", "trend": "down", "name": "Esophageal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "O95248", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95248" } ], "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": 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"url": "https://www.uniprot.org/uniprot/A0A8I5KXH4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8I5KXN1", "url": "https://www.uniprot.org/uniprot/A0A8I5KXN1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8I5KXN1-1", "url": "https://www.uniprot.org/uniprot/A0A8I5KXN1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8I5KXX8", "url": "https://www.uniprot.org/uniprot/A0A8I5KXX8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8I5KXX8-1", "url": "https://www.uniprot.org/uniprot/A0A8I5KXX8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8I5KXX9", "url": "https://www.uniprot.org/uniprot/A0A8I5KXX9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8I5KXX9-1", "url": "https://www.uniprot.org/uniprot/A0A8I5KXX9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8I5KY28", "url": "https://www.uniprot.org/uniprot/A0A8I5KY28", "database": 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"url": "https://www.uniprot.org/uniprot/A0A8I5KZ29", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8I5KZ29-1", "url": "https://www.uniprot.org/uniprot/A0A8I5KZ29-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8I5QJN2", "url": "https://www.uniprot.org/uniprot/A0A8I5QJN2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8I5QJN2-1", "url": "https://www.uniprot.org/uniprot/A0A8I5QJN2-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8I5QKN6", "url": "https://www.uniprot.org/uniprot/A0A8I5QKN6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8I5QKN6-1", "url": "https://www.uniprot.org/uniprot/A0A8I5QKN6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8I5QKT8", "url": "https://www.uniprot.org/uniprot/A0A8I5QKT8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8I5QKT8-1", "url": "https://www.uniprot.org/uniprot/A0A8I5QKT8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8J8YTQ8", "url": "https://www.uniprot.org/uniprot/A0A8J8YTQ8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8J8YTQ8-1", "url": "https://www.uniprot.org/uniprot/A0A8J8YTQ8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0Y5W8", "url": "https://www.uniprot.org/uniprot/H0Y5W8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0Y5W8-1", "url": "https://www.uniprot.org/uniprot/H0Y5W8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O95248", "url": "https://www.uniprot.org/uniprot/O95248", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O95248-1", "url": "https://www.uniprot.org/uniprot/O95248-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O95248-4", "url": "https://www.uniprot.org/uniprot/O95248-4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O95248-5", "url": "https://www.uniprot.org/uniprot/O95248-5", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MARLADYFVLVAFGPHPRGSGEGQGQILQRFPEKDWEDNPFPQGIELFCQPSGWQLCPERNPPTFFVAVLTDINSERHYCACLTFWEPAEPSQQETTRVEDATEREEEGDEGGQTHLSPTAPAPSAQLFAPKTLVLVSRLDHTEVFRNSLGLIYAIHVEGLNVCLENVIGNLLTCTVPLAGGSQRTISLGAGDRQVIQTPLADSLPVSRCSVALLFRQLGITNVLSLFCAALTEHKVLFLSRSYQRLADACRGLLALLFPLRYSFTYVPILPAQLLEVLSTPTPFIIGVNAAFQAETQELLDVIVADLDGGTVTIPECVHIPPLPEPLQSQTHSVLSMVLDPELELADLAFPPPTTSTSSLKMQDKELRAVFLRLFAQLLQGYRWCLHVVRIHPEPVIRFHKAAFLGQRGLVEDDFLMKVLEGMAFAGFVSERGVPYRPTDLFDELVAHEVARMRADENHPQRVLRHVQELAEQLYKNENPYPAVAMHKVQRPGESSHLRRVPRPFPRLDEGTVQWIVDQAAAKMQGAPPAVKAERRTTVPSGPPMTAILERCSGLHVNSARRLEVVRNCISYVFEGKMLEAKKLLPAVLRALKGRAARRCLAQELHLHVQQNRAVLDHQQFDFVVRMMNCCLQDCTSLDEHGIAAALLPLVTAFCRKLSPGVTQFAYSCVQEHVVWSTPQFWEAMFYGDVQTHIRALYLEPTEDLAPAQEVGEAPSQEDERSALDVASEQRRLWPTLSREKQQELVQKEESTVFSQAIHYANRMSYLLLPLDSSKSRLLRERAGLGDLESASNSLVTNSMAGSVAESYDTESGFEDAETCDVAGAVVRFINRFVDKVCTESGVTSDHLKGLHVMVPDIVQMHIETLEAVQRESRRLPPIQKPKLLRPRLLPGEECVLDGLRVYLLPDGREEGAGGSAGGPALLPAEGAVFLTTYRVIFTGMPTDPLVGEQVVVRSFPVAALTKEKRISVQTPVDQLLQDGLQLRSCTFQLLKMAFDEEVGSDSAELFRKQLHKLRYPPDIRATFAFTLGSAHTPGRPPRVTKDKGPSLRTLSRNLVKNAKKTIGRQHVTRKKYNPPSWEHRGQPPPEDQEDEISVSEELEPSTLTPSSALKPSDRMTMSSLVERACCRDYQRLGLGTLSSSLSRAKSEPFRISPVNRMYAICRSYPGLLIVPQSVQDNALQRVSRCYRQNRFPVVCWRSGRSKAVLLRSGGLHGKGVVGLFKAQNAPSPGQSQADSSSLEQEKYLQAVVSSMPRYADASGRNTLSGFSSAHMGSHGKWGSVRTSGRSSGLGTDVGSRLAGRDALAPPQANGGPPDPGFLRPQRAALYILGDKAQLKGVRSDPLQQWELVPIEVFEARQVKASFKKLLKACVPGCPAAEPSPASFLRSLEDSEWLIQIHKLLQVSVLVVELLDSGSSVLVGLEDGWDITTQVVSLVQLLSDPFYRTLEGFRLLVEKEWLSFGHRFSHRGAHTLAGQSSGFTPVFLQFLDCVHQVHLQFPMEFEFSQFYLKFLGYHHVSRRFRTFLLDSDYERIELGLLYEEKGERRGQVPCRSVWEYVDRLSKRTPVFHNYMYAPEDAEVLRPYSNVSNLKVWDFYTEETLAEGPPYDWELAQGPPEPPEEERSDGGAPQSRRRVVWPCYDSCPRAQPDAISRLLEELQRLETELGQPAERWKDTWDRVKAAQRLEGRPDGRGTPSSLLVSTAPHHRRSLGVYLQEGPVGSTLSLSLDSDQSSGSTTSGSRQAARRSTSTLYSQFQTAESENRSYEGTLYKKGAFMKPWKARWFVLDKTKHQLRYYDHRVDTECKGVIDLAEVEAVAPGTPTMGAPKTVDEKAFFDVKTTRRVYNFCAQDVPSAQQWVDRIQSCLSDA", "length": 1868, "header": "sp|O95248-1|MTMR5_HUMAN Isoform 1 of Myotubularin-related protein 5 OS=Homo sapiens OX=9606 GN=SBF1 PE=1 SV=4 CANONICAL=O95248-1" }, "isoforms": [ { "isoform_ac": "A0A8I5KNQ5-1", "url": "", "sequence": { "sequence": "VGEAPSQEDERSALDVASEQRRLWPTLSREKQQELVQKEESTVFSQAIHYANRMSYLLLPLDSSKSRLLRERAGLGDLESASNSLVTNSMAGSVAESYDTESGFEDAETCDVAGAVVRFINRFVDKTLSRCTSRPWRPCSGRAGGCRPSRSPSCCGRACCRVRSVCWTACASTCCRMGVRRARGAVLGDQHCSQLRAPSSSPRTGSSSRGCPRTPWLGSRWWSAPSRWLR", "length": 230, "header": "tr|A0A8I5KNQ5-1|MTMR5_HUMAN Computationally mapped isoform of Myotubularin-related protein 5 OS=Homo sapiens OX=9606 GN=SBF1 PE=1 SV=1 CANONICAL=O95248-1" }, "locus": { "chromosome": "22", "start_pos": 50462470, "end_pos": 50461245, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000688030.1", "url": "https://www.ensembl.org/id/ENST00000688030.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000508668.1", "url": "https://www.ensembl.org/id/ENSP00000508668.1" } ] } }, { "isoform_ac": "A0A8I5KPS7-1", "url": "", "sequence": { "sequence": "MARLADYFVLVAFGPHPRGSGEGQGQILQRFPEKDWEDNPFPQGIELFCQPSGWQLCPERNPPTFFVAVLTDINSERHYCACLTFWEPAEPSQHLPHLPSCLHRRRWYWCRDSTTRRCSGTALASSMPSTWRA", "length": 133, "header": "tr|A0A8I5KPS7-1|MTMR5_HUMAN Computationally mapped isoform of Myotubularin-related protein 5 OS=Homo sapiens OX=9606 GN=SBF1 PE=1 SV=1 CANONICAL=O95248-1" }, "locus": { "chromosome": "22", "start_pos": 50474840, "end_pos": 50467409, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000691344.1", "url": "https://www.ensembl.org/id/ENST00000691344.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000509009.1", "url": "https://www.ensembl.org/id/ENSP00000509009.1" } ] } }, { "isoform_ac": "A0A8I5KR05-1", "url": "", "sequence": { "sequence": "MARLADYFVLVAFGPHPRGSGEGQGQILQRFPEKDWEDNPFPQGIELFCQPSGWQLCPERNPPTFFVAVLTDINSERHYCACLTFWEPAEPSQETTRVEDATEREEEGDEGGQTHLSPTAPAPSAQLFAPKTLVLVSRLDHTEVFRNSLGLIYAIHVEGLNVCLENVIGNLLTCTVPLAGGSQRTISLGAGDRQVIQTPLADSLPVSRCSVALLFRQLGITNVLSLFCAALTEHKVLFLSRSYQRLADACRGLLALLFPLRYSFTYVPILPAQLLEVLSTPTPFIIGVNAAFQAETQELLDVIVADLDGGTVTIPECVHIPPLPEPLQSQTHSVLSMVLDPELELADLAFPPPTTSTSSLKMQDKELRAVFLRLFAQLLQGYRWCLHVVRIHPEPVIRFHKAAFLGQRGLVEDDFLMKVLEGMAFAGFVSERGVPYRPTDLFDELVAHEVARMRADENHPQRVLRHVQELAEQLYKNENPYPAVAMHKVQRPGESSHLRRVPRPFPRLDEGTVQWIVDQAAAKMQGAPPAVKAERRTTVPSGPPMTAILERCSGLHVNSARRLEVVRNCISYVFEGKMLEAKKLLPAVLRALKGRAARRCLAQELHLHVQQNRAVLDHQQFDFVVRMMNCCLQDCTSLDEHGIAAALLPLVTAFCRKLSPGVTQFAYSCVQEHVVWSTPQFWEAMFYGDVQTHIRALYLEPTEDLAPAQEVGEAPSQEDERSALDVASEQRRLWPTLSREKQQELVQKEESTVFSQAIHYANRMSYLLLPLDSSKSRLLRERAGLGDLESASNSLVTNSMAGSVAESYDTESGFEDAETCDVAGAVVRFINRFVDKVCTESGVTSDHLKGLHVMVPDIVQMHIETLEAVQRESRRLPPIQKPKLLRPRLLPGEECVLDGLRVYLLPDGREEGAGGSAGGPALLPAEGAVFLTTYRVIFTGMPTDPLVGEQVVVRSFPVAALTKEKRISVQTPVDQLLQDGLQLRSCTFQLLKMAFDEEVGSDSAELFRKQLHKLRYPPDIRATFAFTLGSAHTPGRPPRVTKDKGPSLRTLSRNLVKNAKKTIGRQHVTRKKYNPPSWEHRGQPPPEDQEDEISVSEELEPSTLTPSSALKPSDRMTMSSLVERACCRDYQRLGLGTLSSSLSRAKSEPFRISPVNRMYAICRSYPGLLIVPQSVQDNALQRVSRCYRQNRFPVVCWRSGRSKAVLLRSGGLHGKGVVGLFKAQNAPSPGQSQADSSSLEQEKYLQAVVSSMPRYADASGRNTLSGFSSAHMGSHVPSPRARVTTLSNPMAASASRRTAPRGKWGSVRTSGRSSGLGTDVGSRLAGRDALAPPQANGGPPDPGFLRPQRAALYILGDKAQLKGVRSDPLQQWELVPIEVFEARQVKASFKKLLKACVPGCPAAEPSPASFLRSLEDSEWLIQIHKLLQVSVLVVELLDSGSSVLVGLEDGWDITTQVVSLVQLLSDPFYRTLEGFRLLVEKEWLSFGHRFSHRGAHTLAGQSSGFTPVFLQFLDCVHQFPMEFEFSQFYLKFLGYHHVSRRFRTFLLDSDYERIELGLLYEEKGERRGQVPCRSVWEYVDRLSKRTPVFHNYMYAPEDAEVLRPYSNVSNLKVWDFYTEETLAEGPPYDWELAQGPPEPPEEERSDGGAPQSRRRVVWPCYDSCPRAQPDAISRLLELQRLETELGQPAERWKDTWDRVKAAQRLEGRPDGRGTPSSLLVSTAPHHRRSLGVYLQEGPVGSTLSLSLDSDQSSGSTTSGSRQAARRSTSTLYSQFQTAESENRSYEGTLYKKGAFMKPWKARWFVLDKTKHQLRYYDHRVDTECKGVIDLAEVEAVAPGTPTMGAPKTVDEKAFFDVKTTRRVYNFCAQDVPSAQQWVDRIQSCLSDA", "length": 1888, "header": "tr|A0A8I5KR05-1|A0A8I5KR05_HUMAN Computationally mapped isoform of SET binding factor 1 OS=Homo sapiens OX=9606 GN=SBF1 PE=1 SV=1 CANONICAL=O95248-1" }, "locus": { "chromosome": "22", "start_pos": 50474840, "end_pos": 50447145, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000691792.1", "url": "https://www.ensembl.org/id/ENST00000691792.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000509911.1", "url": "https://www.ensembl.org/id/ENSP00000509911.1" } ] } }, { "isoform_ac": "A0A8I5KRX8-1", "url": "", "sequence": { "sequence": "MARLADYFVLVAFGPHPRGSGEGQGQILQRFPEKDWEDNPFPQGIELFCQPSGWQLCPERNPPTFFVAVLTDINSERHYCACLTFWEPAEPSQETTRVEDATEREEEGDEGGQTHLSPTAPAPSAQLFAPKTLVLVSRLDHTEVFRNSLGLIYAIHVEGLNVCLENVIGNLLTCTVPLAGGSQRTISLGAGDRQVIQTPLADSLPVSRCSVALLFRQLGITNVLSLFCAALTEHKVLFLSRSYQRLADACRGLLALLFPLRYSFTYVPILPAQLLEVLSTPTPFIIGVNAAFQAETQELLDVIVADLDGGTVTIPECVHIPPLPEPLQSQTHSVLSMVLDPELELADLAFPPPTTSTSSLKMQDKELRAVFLRLFAQLLQGYRWCLHVVRIHPEPVIRFHKAAFLGQRGLVEDDFLMKVLEGMAFAGFVSERGVPYRPTDLFDELVAHEVARMRADENHPQRVLRHVQELAEQLYKNENPYPAVAMHKVQRPGESSHLRRVPRPFPRLDEGTVQWIVDQAAAKMQGAPPAVKAERRTTVPSGPPMTAILERCSGLHVNSARRLEVVRNCISYVFEGKMLEAKKLLPAVLRALKGRAARRCLAQELHLHVQQNRAVLDHQQFDFVVRMMNCCLQDCTSLDEHGIAAALLPLVTAFCRLCAGARGVEHATVLGGHVLWGCADSHPGPLPGAHGGPGPRPGGWGGTFPGGRALCPRRGF", "length": 716, "header": "tr|A0A8I5KRX8-1|MTMR5_HUMAN Computationally mapped isoform of Myotubularin-related protein 5 OS=Homo sapiens OX=9606 GN=SBF1 PE=1 SV=1 CANONICAL=O95248-1" }, "locus": { "chromosome": "22", "start_pos": 50474840, "end_pos": 50462418, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000687704.1", "url": "https://www.ensembl.org/id/ENST00000687704.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000510454.1", "url": "https://www.ensembl.org/id/ENSP00000510454.1" } ] } }, { "isoform_ac": "A0A8I5KS44-1", "url": "", "sequence": { "sequence": "DKELRAVFLRLFAQLLQGYRWCLHVVRIHPEPVIRFHKPSWASVGW", "length": 46, "header": "tr|A0A8I5KS44-1|MTMR5_HUMAN Computationally mapped isoform of Myotubularin-related protein 5 OS=Homo sapiens OX=9606 GN=SBF1 PE=1 SV=1 CANONICAL=O95248-1" }, "locus": { "chromosome": "22", "start_pos": 50465328, "end_pos": 50465102, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000685239.1", "url": "https://www.ensembl.org/id/ENST00000685239.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000509640.1", "url": "https://www.ensembl.org/id/ENSP00000509640.1" } ] } }, { "isoform_ac": "A0A8I5KS51-1", "url": "", "sequence": { "sequence": "VGSDSAELFRKQLHKLRYPPDIRATFAFTLGSAHTPGRPPRVTKDKGPSLRTLSRNLVKNAKKTIGRQHVTRKKYNPPSWEHRGQPPPEDQEDEISVSEELEPSTLTPSSALKPSDRMTMSSLVERACCRDYQRLGLGTLSSSLSRAKSEPFRISPVNRIYPGLLIVPQSVQDNALQRVSRCYRQNRFPVVCWRSGRSKAVLLRSGGLHGKGVVGLFKAQNAPSP", "length": 225, "header": "tr|A0A8I5KS51-1|MTMR5_HUMAN Computationally mapped isoform of Myotubularin-related protein 5 OS=Homo sapiens OX=9606 GN=SBF1 PE=1 SV=1 CANONICAL=O95248-1" }, "locus": { "chromosome": "22", "start_pos": 50460685, "end_pos": 50459471, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000692006.1", "url": "https://www.ensembl.org/id/ENST00000692006.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000509653.1", "url": "https://www.ensembl.org/id/ENSP00000509653.1" } ] } }, { "isoform_ac": "A0A8I5KS68-1", "url": "", "sequence": { "sequence": "MARLADYFVLVAFGPHPRGSGEGQGQILQRFPEKDWEDNPFPQGIELFCQPSGWQLCPERNPPTFFVAVLTDINSERHYCACLTFWEPAEPSQETTRVEDATEREEEGDEGGQTHLSPTAPAPSAQLFAPKTLVLVSRLDHTEVFRNSLGLIYAIHVEGLNVCLENVIGNLLTCTVPLAGGSQRTISLGAGDRQVIQTPLADSLPVSRCSVALLFRQLGITNVLSLFCAALTEHKVLFLSRSYQRLADACRGLLALLFPLRYSFTYVPILPAQLLEVLSTPTPFIIGVNAAFQAETQELGRSPFLSVCTFHPCQSHCRVRRTVC", "length": 324, "header": "tr|A0A8I5KS68-1|MTMR5_HUMAN Computationally mapped isoform of Myotubularin-related protein 5 OS=Homo sapiens OX=9606 GN=SBF1 PE=1 SV=1 CANONICAL=O95248-1" }, "locus": { "chromosome": "22", "start_pos": 50474840, "end_pos": 50465969, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000688124.1", "url": "https://www.ensembl.org/id/ENST00000688124.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000510645.1", "url": "https://www.ensembl.org/id/ENSP00000510645.1" } ] } }, { "isoform_ac": "A0A8I5KS97-1", "url": "", "sequence": { "sequence": "XKWGSVRTSGRSSGLGTDVGSRLAGRDALAPPQANGGPPDPGFLRPQRAALYILGDKAQLKGVRSDPLQQWELVPIEVFEARQVKASFKKLLKACVPGCPAAEPSPASFLRSLEDSEWLIQIHKLLQVSVLVVELLDSGSSVLVGLEDGWDITTQVVSLVQLLSDPFYRTLEGFRLLVEKEWLSFGHRFSHRGAHTLAGQSSGFTPVFLQFLDCVHQVHLQFPMEFEFSQFYLKFLGYHHVSRRFRTFLLDSDYERIELGLLYEEKGERRGQVPCRSVWEYVDRLSKRTPVFHNYMYAPEDAEVLRPYSNVSNLKVWDFYTEETLAEGPPYDWELAQGPPEPPEEERSDGGAPQSRRRVVWPCYDSCPRAQPDAISRLLEELQRLETELGQPAERWKDTWDRVKAAQRLEGRPDGRLPPCVHRTPPPSLAGCVPAGGARGLHPEPQPGQRPE", "length": 452, "header": "tr|A0A8I5KS97-1|MTMR5_HUMAN Computationally mapped isoform of Myotubularin-related protein 5 OS=Homo sapiens OX=9606 GN=SBF1 PE=1 SV=1 CANONICAL=O95248-1" }, "locus": { "chromosome": "22", "start_pos": 50456673, "end_pos": 50448325, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000689849.1", "url": "https://www.ensembl.org/id/ENST00000689849.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000509742.1", "url": "https://www.ensembl.org/id/ENSP00000509742.1" } ] } }, { "isoform_ac": "A0A8I5KT25-1", "url": "", "sequence": { "sequence": "ETTRVEDATEREEEGDEGGQTHLSPTAPAPSAQLFAPKTLVLVSRLDHTEVFRNSLGLIYAIHVEGLNVCLENVIGNLLTCTVPLAGGSQLDSVEEGARTISLGAGDRQVIQTPLADSLPVSRCSVALLFRQLGITNVLSLFCAALTEHKVLFLSRSYQRLADACRGLLALLFPLRYSFTYVPILPAQLLEVLSTPTPFIIGVNAAFQAETQELLDVIVADLDGGTVTIPECVHIPPLPEPLQSQTHSVLSMVLDPELELADLAFPPPTTSTSSLKMQ", "length": 278, "header": "tr|A0A8I5KT25-1|A0A8I5KT25_HUMAN Computationally mapped isoform of SET binding factor 1 OS=Homo sapiens OX=9606 GN=SBF1 PE=1 SV=1 CANONICAL=O95248-1" }, "locus": { "chromosome": "22", "start_pos": 50467690, "end_pos": 50465763, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000692076.1", "url": "https://www.ensembl.org/id/ENST00000692076.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000510301.1", "url": "https://www.ensembl.org/id/ENSP00000510301.1" } ] } }, { "isoform_ac": "A0A8I5KT60-1", "url": "", "sequence": { "sequence": "MARLADYFVLVAFGPHPRGSGEGQGQILQRFPEKDWEDNPFPQGIELFCQPSGWQLCPERNPPTFFVAVLTDINSERHYCACLTFWEPAEPSQETTRVEDATEREEEGDEGGQTHLSPTAPAPSAQLFAPKTLVLVSRLDHTEVFRNSLGLIYAIHVEGLNVCLENVIGNLLTCTVPLAGGSQRTISLGAGDRQVIQTPLADSLPVSRCSVALLFRQLGITNVLSLFCAALTEHKVLFLSRSYQRLADACRGLLALLFPLRYSFTYVPILPAQLLEVLSTPTPFIIGVNAAFQAETQELLDVIVADLDGGTVTIPECVHIPPLPEPLQSQTHSVLSMVLDPELELADLAFPPPTTSTSSLKMQDKELRAVFLRLFAQLLQGYRWCLHVVRIHPEPVIRFHKAAFLGQRGLVEDDFLMKVLEGMAFAGFVSERGVPYRPTDLFDELVAHEVARMRADENHPQRVLRHVQELAEQLYKNENPYPAVAMHKVQRPGESSHLRRVPRPFPRLDEGTVQWIVDQAAAKMQGAPPAVKAERRTTVPSGPPMTAILERCSGLHVNSARRLEVVRNCISYVFEGKMLEAKKLLPAVLRALKGRAARRCLAQELHLHVQQNRAVLDHQQFDFVVRMMNCCLQDCTSLDEHGIAAALLPLVTAFCRKLSPGVTQFAYSCVQEHVVWSTPQFWEAMFYGDVQTHIRALYLEPTEDLAPAQEVGEAPSQEDERSALDVASEQRRLWPTLSREKQQELVQKEESTVFSQAIHYANRMSYLLLPLDSSKSRLLRERAGLGDLESASNSLVTNSMAGSVAESYDTESGFEDAETCDVAGAVVRFINRFVDKVCTESGVTSDHLKGLHVMVPDIVQMHIETLEAVQRESRRLPPIQKPKLLRPRLLPGEECVLDGLRVYLLPDGREEGAGGSAGGPALLPAEGAVFLTTYRVIFTGMPTDPLGGGPLLPGGCADQGEAHQRPDPCGPAPAGRAPAALLHIPAAENGL", "length": 991, "header": "tr|A0A8I5KT60-1|MTMR5_HUMAN Computationally mapped isoform of Myotubularin-related protein 5 OS=Homo sapiens OX=9606 GN=SBF1 PE=1 SV=1 CANONICAL=O95248-1" }, "locus": { "chromosome": "22", "start_pos": 50474840, "end_pos": 50460696, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000686427.1", "url": "https://www.ensembl.org/id/ENST00000686427.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000510379.1", "url": "https://www.ensembl.org/id/ENSP00000510379.1" } ] } }, { "isoform_ac": "A0A8I5KTI7-1", "url": "", "sequence": { "sequence": "MARLADYFVLVAFGPHPRGSGEGQGQILQRFPEKDWEDNPFPQGIELFCQPSGWQLCPERNPPTFFVAVLTDINSERHYCACLTFWEPAEPSQQETTRVEDATEREEEGDEGGQTHLSPTAPAPSAQLFAPKTLVLVSRLDHTENSLGLIYAIHVEGLNVCLENVIGNLLTCTVPLAGGSQRTISLGAGDRQVIQTPLADSLPVSRCSVALLFRQLGITNVLSLFCAALTEHKVLFLSRSYQRLADACRGLLALLFPLRYSFTYVPILPAQLLEVLSTPTPFIIGVNAAFQAETQELLDVIVADLDGGTVTIPECVHIPPLPEPLQSQTHSVLSMVLDPELELADLAFPPPTTSTSSLKMQDKELRAVFLRLFAQLLQGYRWCLHVVRIHPEPVIRFHKAAFLGQRGLVEDDFLMKVLEGMAFAGFVSERGVPYRPTDLFDELVAHEVARMRADENHPQRVLRHVQELAEQLYKNENPYPAVAMHKVQRPGESSHLRRVPRPFPRLDEGTVQWIVDQAAAKMQGAPPAVKAERRTTVPSGPPMTAILERCSGLHVNSARRLEVVRNCISYVFEGKMLEAKKLLPAVLRALKGRAARRCLAQELHLHVQQNRAVLDHQQFDFVVRMMNCCLQDCTSLDEHGIAAALLPLVTAFCRKLSPGVTQFAYSCVQEHVVWSTPQFWEAMFYGDVQTHIRALYLEPTEDLAPAQEVGEAPSQEDERSALDVASEQRRLWPTLSREKQQELVQKEESTVFSQAIHYANRMSYLLLPLDSSKSRLLRERAGLGDLESASNSLVTNSMAGSVAESYDTESGFEDAETCDVAGAVVRFINRFVDKVCTESGVTSDHLKGLHVMVPDIVQMHIETLEAVQRESRRLPPIQKPKLLRPRLLPGEECVLDGLRVYLLPDGREEGAGGSAGGPALLPAEGAVFLTTYRVIFTGMPTDPLVGEQVVVRSFPVAALTKEKRISVQTPVDQLLQDGLQLRSCTFQLLKMAFDEEVGSDSAELFRKQLHKLRYPPDIRATFAFTLGSAHTPGRPPRVTKDKGPSLRTLSRNLVKNAKKTIGRQHVTRKKYNPPSWEHRGQPPPEDQEDEISVSEELEPSTLTPSSALKPSDRMTMSSLVERACCRDYQRLGLGTLSSSLSRAKSEPFRISPVNRMYAICRSYPGLLIVPQSVQDNALQRVSRCYRQNRFPVVCWRSGRSKAVLLRSGGLHGKGVVGLFKAQNAPSPGQSQADSSSLEQEKYLQAVVSSMPRYADASGRNTLSGFSSAHMGSHVPSPRARVTTLSNPMAASASRRTAPRGKWGSVRTSGRSSGLGTDVGSRLAGRDALAPPQANGGPPDPGFLRPQRAALYILGDKAQLKGVRSDPLQQWELVPIEVFEARQVKASFKKLLKACVPGCPAAEPSPASFLRSLEDSEWLIQIHKLLQVSVLVVELLDSGSSVLVGLEDGWDITTQVVSLVQLLSDPFYRTLEGFRLLVEKEWLSFGHRFSHRGAHTLAGQSSGFTPVFLQFLDCVHQVHLQFPMEFEFSQFYLKFLGYHHVSRRFRTFLLDSDYERIELGLLYEEKGERRGQVPCRSVWEYVDRLSKRTPVFHNYMYAPEDAEVLRPYSNVSNLKVWDFYTEETLAEGPPYDWELAQGPPEPPEEERSDGGAPQSRRRVVWPCYDSCPRAQPDAISRLLEELQRLETELGQPAERWKDTWDRVKAAQRLEGRPDGRGTPSSLLVSTAPHHRRSLGVYLQEGPVGSTLSLSLDSDQSSGSTTSGSRQAARRSTSTLYSQFQTAESENRSYEGTLYKKGAFMKPWKARWFVLDKTKHQLRYYDHRVDTECKGVIDLAEVEAVAPGTPTMGAPKTVDEKAFFDVKTTRRVYNFCAQDVPSAQQWVDRIQSCLSDA", "length": 1891, "header": "tr|A0A8I5KTI7-1|MTMR5_HUMAN Computationally mapped isoform of Myotubularin-related protein 5 OS=Homo sapiens OX=9606 GN=SBF1 PE=1 SV=1 CANONICAL=O95248-1" }, "locus": { "chromosome": "22", "start_pos": 50474840, "end_pos": 50447145, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000690990.1", "url": "https://www.ensembl.org/id/ENST00000690990.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000510461.1", "url": "https://www.ensembl.org/id/ENSP00000510461.1" } ] } }, { "isoform_ac": "A0A8I5KTN1-1", "url": "", "sequence": { "sequence": "MARLADYFVLVAFGPHPRGQGQILQRFPEKDWEDNPFPQGIELFCQPSGWQLCPERNPPTFFVAVLTDINSERHYCACLTFWEPAEPSQQETTRVEDATEREEEGDEGGQTHLSPTAPAPSAQLFAPKTLVLVSRLDHTEVFRNSLGLIYAIHVEGLNVCLENVIGNLLTCTVPLAGGSQRTISLGAGDRQVIQTPLADSLPVSRCSVALLFRQLGITNVLSLFCAALTEHKVLFLSRSYQRLADACRGLLALLFPLRYSFTYVPILPAQLLEVLSTPTPFIIGVNAAFQAETQELLDVIVADLDGGTVTIPECVHIPPLPEPLQSQTHSVLSMVLDPELELADLAFPPPTTSTSSLKMQLFSQDKELRAVFLRLFAQLLQGYRWCLHVVRIHPEPVIRFHKAAFLGQRGLVEDDFLMKVLEGMAFAGFVSERGVPYRPTDLFDELVAHEVARMRADENHPQRVLRHVQELAEQLYKNENPYPAVAMHKVQRPGESSHLRRVPRPFPRLDEGTVQWIVDQAAAKMQGAPPAVKAERRTTVPSGPPMTAILERCSGLHVNSARRLEVVRNCISYVFEGKMLEAKKLLPAVLRALKGRAARRCLAQELHLHVQQNRAVLDHQQFDFVVRMMNCCLQDCTSLDEHGIAAALLPLVTAFCRKLSPGVTQFAYSCVQEHVVWSTPQFWEAMFYGDVQTHIRALYLEPTEDLAPAQVGEAPSQEDERSALDVASEQRRLWPTLSREKQQELVQKEESTVFSQAIHYANRMSYLLLPLDSSKSRLLRERAGLGDLESASNSLVTNSMAGSVAESYDTESGFEDAETCDVAGAVVRFINRFVDKVCTESGVTSDHLKGLHVMVPDIVQMHIETLEAVQRESRRLPPIQKPKLLRPRLLPGEECVLDGLRVYLLPDGREEGAGGSAGGPALLPAEGAVFLTTYRVIFTGMPTDPLVGEQVVVRSFPVAALTKEKRISVQTPVDQLLQDGLQLRSCTFQLLKMAFDEEVGSDSAELFRKQLHKLRYPPDIRATFAFTLGSAHTPGRPPRVTKDKGPSLRTLSRNLVKNAKKTIGRQHVTRKKYNPPSWEHRGQPPPEDQEDEISVSEELEPSTLTPSSALKPSDRMTMSSLVERACCRDYQRLGLGTLSSSLSRAKSEPFRISPVNRMYAICRSYPGLLIVPQSVQDNALQRVSRCYRQNRFPVVCWRSGRSKAVLLRSGGLHGKGVVGLFKAQNAPSPGQSQADSSSLEQEKYLQAVVSSMPRYADASGRNTLSGFSSAHMGSHVPSPRARVTTLSNPMAASASRRTAPRGKWGSVRTSGRSSGLGTDVGSRLAGRDALAPPQANGGPPDPGFLRPQRAALYILGDKAQLKGVRSDPLQQWELVPIEVFEARQVKASFKKLLKACVPGCPAAEPSPASFLRSLEDSEWLIQIHKLLQVSVLVVELLDSGSSVLVGLEDGWDITTQVVSLVQLLSDPFYRTLEGFRLLVEKEWLSFGHRFSHRGAHTLAGQSSGFTPVFLQFLDCVHQVHLQFPMEFEFSQFYLKFLGYHHVSRRFRTFLLDSDYERIELGLLYEEKGERRGQVPCRSVWEYVDRLSKRTPVFHNYMYAPEDAEVLRPYSNVSNLKVWDFYTEETLAEGPPYDWELAQGPPEPPEEERSDGGAPQSRRRVVWPCYDSCPRAQPDAISRLLEELQRLETELGQPAERWKDTWDRVKAAQRLEGRPDGRGTPSSLLVSTAPHHRRSLGVYLQEGPVGSTLSLSLDSDQSSGSTTSGSRQAARRSTSTLYSQFQTAESENRSYEGTLYKKGAFMKPWKARWFVLDKTKHQLRYYDHRVDTECKGVIDLAEVEAVAPGTPTMGAPKTVDEKAFFDVKTTRRVYNFCAQDVPSAQQWVDRIQSCLSDA", "length": 1893, "header": "tr|A0A8I5KTN1-1|MTMR5_HUMAN Computationally mapped isoform of Myotubularin-related protein 5 OS=Homo sapiens OX=9606 GN=SBF1 PE=1 SV=1 CANONICAL=O95248-1" }, "locus": { "chromosome": "22", "start_pos": 50474840, "end_pos": 50447145, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000688066.1", "url": "https://www.ensembl.org/id/ENST00000688066.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000510782.1", "url": "https://www.ensembl.org/id/ENSP00000510782.1" } ] } }, { "isoform_ac": "A0A8I5KU03-1", "url": "", "sequence": { "sequence": "XITNVLSLFCAALTEHKVLFLSRSYQRLADACRGLLALLFPLRYSFTYVPILPAQLLEVLSTPTPFIIGVNAAFQAETQELSHCRVRRTVC", "length": 91, "header": "tr|A0A8I5KU03-1|A0A8I5KU03_HUMAN Computationally mapped isoform of SET binding factor 1 OS=Homo sapiens OX=9606 GN=SBF1 PE=1 SV=1 CANONICAL=O95248-1" }, "locus": { "chromosome": "22", "start_pos": 50466482, "end_pos": 50465968, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000686717.1", "url": "https://www.ensembl.org/id/ENST00000686717.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000509976.1", "url": "https://www.ensembl.org/id/ENSP00000509976.1" } ] } }, { "isoform_ac": "A0A8I5KU87-1", "url": "", "sequence": { "sequence": "MARLADYFVLVAFGPHPRGSGEGQGQILQRFPEKDWEDNPFPQGIELFCQPSGWQLCPERNPPTFFVAVLTDINSERHYCACLTFWEPAEPSQQETTRVEDATEREEEGDEGGQTHLSPTAPAPSAQLFAPKTLVLVSRLDHTENSLGLIYAIHVEGLNVCLENVIGNLLTCTVPLAGGSQRTISLGAGDRQVIQTPLADSLPVSRCSVALLFRQLGITNVLSLFCAALTEHKVLFLSRSYQRLADACRGLLALLFPLRYSFTYVPILPAQLLEVLSTPTPFIIGVNAAFQAETQELLDVIVADLDGGTVTIPECVHIPPLPEPLQSQTHSVLSMVLDPELELADLAFPPPTTSTSSLKMQDKELRAVFLRLFAQLLQGYRWCLHVVRIHPEPVIRFHKAAFLGQRGLVEDDFLMKVLEGMAFAGFVSERGVPYRPTDLFDELVAHEVARMRADENHPQRVLRHVQELAEQLYKNENPYPAVAMHKVQRPGESSHLRRVPRPFPRLDEGTVQWIVDQAAAKMQGAPPAVKAERRTTVPSGPPMTAILERCSGLHVNSARRLEVVRNCISYVFEGKMLEAKKLLPAVLRALKGRAARRCLAQELHLHVQQNRAVLDHQQFDFVVRMMNCCLQDCTSLDEHGIAAALLPLVTAFCRLSPGVTQFAYSCVQEHVVWSTPQFWEAMFYGDVQTHIRALYLEPTEDLAPAQEVGEAPSQEDERSALDVASEQRRLWPTLSREKQQELVQKEESTVFSQAIHYANRMSYLLLPLDSSKSRLLRERAGLGDLESASNSLVTNSMAGSVAESYDTESGFEDAETCDVAGAVVRFINRFVDKVCTESGVTSDHLKGLHVMVPDIVQMHIETLEAVQRESRRLPPIQKPKLLRPRLLPGEECVLDGLRVYLLPDGREEGAGGSAGGPALLPAEGAVFLTTYRVIFTGMPTDPLVGEQVVVRSFPVAALTKEKRISVQTPVDQLLQDGLQLRSCTFQLLKMAFDEEVGSDSAELFRKQLHKLRYPPDIRATFAFTLGSAHTPGRPPRVTKDKGPSLRTLSRNLVKNAKKTIGRQHVTRKKYNPPSWEHRGQPPPEDQEDEISVSEELEPSTLTPSSALKPSDRMTMSSLVERACCRDYQRLGLGTLSSSLSRAKSEPFRISPVNRMYAICRSYPGLLIVPQSVQDNALQRVSRCYRQNRFPVVCWRSGRSKAVLLRSGGLHGKGVVGLFKAQNAPSPGQSQADSSSLEQEKYLQAVVSSMPRYADASGRNTLSGFSSAHMGSHGKWGSVRTSGRSSGLGTDVGSRLAGRDALAPPQANGGPPDPGFLRPQRAALYILGDKAQLKGVRSDPLQQWELVPIEVFEARQVKASFKKLLKACVPGCPAAEPSPASFLRSLEDSEWLIQIHKLLQVSVLVVELLDSGSSVLVGLEDGWDITTQVVSLVQLLSDPFYRTLEGFRLLVEKEWLSFGHRFSHRGAHTLAGQSSGFTPVFLQFLDCVHQVHLQFPMEFEFSQFYLKFLGYHHVSRRFRTFLLDSDYERIELGLLYEEKGERRGQVPCRSVWEYVDRLSKRTPVFHNYMYAPEDAEVLRPYSNVSNLKVWDFYTEETLAEGPPYDWELAQGPPEPPEEERSDGGAPQSRRRVVWPCYDSCPRAQPDAISRLLEELQRLETELGQPAERWKDTWDRVKAAQRLEGRPDGRGTPSSLLVSTAPHHRRSLGVYLQEGPVGSTLSLSLDSDQSSGSTTSGSRQAARRSTSTLYSQFQTAESENRSYEGTLYKKGAFMKPWKARWFVLDKTKHQLRYYDHRVDTECKGVIDLAEVEAVAPGTPTMGAPKTVDEKAFFDVKTTRRVYNFCAQDVPSAQQWVDRIQSCLSDA", "length": 1864, "header": "tr|A0A8I5KU87-1|MTMR5_HUMAN Computationally mapped isoform of Myotubularin-related protein 5 OS=Homo sapiens OX=9606 GN=SBF1 PE=1 SV=1 CANONICAL=O95248-1" }, "locus": { "chromosome": "22", "start_pos": 50474840, "end_pos": 50447145, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000685809.1", "url": "https://www.ensembl.org/id/ENST00000685809.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000508863.1", "url": "https://www.ensembl.org/id/ENSP00000508863.1" } ] } }, { "isoform_ac": "A0A8I5KUE4-1", "url": "", "sequence": { "sequence": "MARLADYFVLVAFGPHPRGSGEGQGQILQRFPEKDWEDNPFPQGIELFCQPSGWQLCPERNPPTFFVAVLTDINSERHYCACLTFWEPAEPSQETTRVEDATEREEEGDEGGQTHLSPTAPAPSAQLFAPKTLVLVSRLDHTEVFRNSLGLIYAIHVEGLNVCLENVIGNLLTCTVPLAGGSQRTISLGAGDRQVIQTPLADSLPVSRCSVALLFRQLGITNVLSLFCAALTEHKVLFLSRSYQRLADACRGLLALLFPLRYSFTYVPILPAQLLEVLSTPTPFIIGVNAAFQAETQELLDVIVADLDGGTVTIPECVHIPPLPEPLQSQTHSVLSMVLDPELELADLAFPPPTTSTSSLKMQDKELRAVFLRLFAQLLQGYRWCLHVVRIHPEPVIRFHKAAFLGQRGLVEDDFLMKVLEGMAFAGFVSERGVPYRPTDLFDELVAHEVARMRADENHPQRVLRHVQELAEQLYKNENPYPAVAMHKVQRPGESSHLRRVPRPFPRLDEGTVQWIVDQAAAKMQGAPPAVKAERRTTVPSGPPMTAILERCSGLHVNSARRLEVVRNCISYVFEGKMLEAKKLLPAVLRALKGRAARRCLAQELHLHVQQNRAVLDHQQFDFVVRMMNCCLQDCTSLDEHGIAAALLPLVTAFCRKLSPGVTQFAYSCVQEHVVWSTPQFWEAMFYGDVQTHIRALYLEPTEDLAPAQEVGEAPSQEDERSALDVASEQRRLWPTLSREKQQELVQKEESTVFSQAIHYANRMSYLLLPLDSSKSRLLRERAGLGDLESASNSLVTNSMAGSVAESYDTESGFEDAETCDVAGAVVRFINRFVDKVCTESGVTSDHLKGLHVMVPDIVQMHIETLEAVQRESRRLPPIQKPKLLRPRLLPGEECVLDGLRVYLLPDGREEGAGGSAGGPALLPAEGAVFLTTYRVIFTGMPTDPLVGEQVVVRSFPVAALTKEKRISVQTPVDQLLQDGLQLRSCTFQLLKMAFDEEVGSDSAELFRKQLHKLRYPPDIRATFAFTLGSAHTPGRPPRVTKDKGPSLRTLSRNLVKNAKKTIGRQHVTRKKYNPPSWEHRGQPPPEDQEDEISVSEELEPSTLTPSSALKPSDRMTMSSLVERACCRDYQRLGLGTLSSSLSRAKSEPFRISPVNRMYAICRSYPGLLIVPQSVQDNALQRVSRCYRQNRFPVVCWRSGRSKAVLLRSGGLHGKGVVGLFKAQNAPSPGQSQADSSSLEQEKYLQAVVSSMPRYADASGRNTLSGFSSAHMGSHVPSPRARVTTLSNPMAASASRRTAPRGKWGSVRTSGRSSGLGTDVGSRLAGRDALAPPQANGGPPDPGFLRPQRAALYILGDKAQLKGVRSDPLQQWELVPIEVFEARQVKASFKKLLKACVPGCPAAEPSPASFLRSLEDSEWLIQIHKLLQVSVLVVELLDSGSSVLVGLEDGWDITTQVVSLVQLLSDPFYRTLEGFRLLVEKEWLSFGHRFSHRGAHTLAGQSSGFTPVFLQFLDCVHQVHLQFPMEFEFSQFYLKFLGYHHVSRRFRTFLLDSDYERIELGLLYEEKGERRGQVPCRSVWEYVDRLSKRTPVFHNYMYAPEDAEVLRPYSNVSNLKVWDFYTEETLAEGPPYDWELAQGPPEPPEEERSDGGAPQSRRRVVWPCYDSCPRAQPDAISRLLEELQRLETELGQPAERWKDTWDRVKAAQRLEGRPDGRGTPSSLLVSTAPHHRRSLGVYLQEGPVGSTLSLSLDSDQSSGSTTSGSRQAARRSTSTLYSQFQTAESENRSYEGTLYKKGAFMKPWKARWFVLDKTKHQLRYYDHRVDTECKGVIDLAEVEAVAPGTPTMGAPKTVDEKAFFDDVPSAQQWVDRIQSCLSDA", "length": 1880, "header": "tr|A0A8I5KUE4-1|MTMR5_HUMAN Computationally mapped isoform of Myotubularin-related protein 5 OS=Homo sapiens OX=9606 GN=SBF1 PE=1 SV=1 CANONICAL=O95248-1" }, "locus": { "chromosome": "22", "start_pos": 50474840, "end_pos": 50447145, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000689981.1", "url": "https://www.ensembl.org/id/ENST00000689981.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000509035.1", "url": "https://www.ensembl.org/id/ENSP00000509035.1" } ] } }, { "isoform_ac": "A0A8I5KUL5-1", "url": "", "sequence": { "sequence": "XKWGSVRTSGRSSGLGTDVGSRLAGRDALAPPQANGGPPDPGFLRPQRAALYILGDKAQLKGVRSDPLQQWELVPIEVFEARQVKASFKKLLKACVPGCPAAEPSPASFLRSLEDSEWLIQIHKLLQVSVLVVELLDSGSSVLVGLEDGWDITTQVVSLVQLLSDPFYRTLEGFRLLVEKEWLSFGHRFSHRGAHTLAGQSSGFTPVFLQFLDCVHQVHLQFPMEFEFSQFYLKFLGYHHVSRRFRTFLLDSDYERIELGLLYEEKGERRGQVPCRSVWEYVDRLSKRTPVFHNYMYAPEDAEVLRPYSNVSNLKVWDFYTEETLAEGPPYDWELAQGPPEPPEEERSDGGAPQSRRRVVWPCYDSCPRAQPDAISRLLEELQRLETELGQPAERWKDTWDRVKAAQRLEGRPDGRGTPSSLLVSTAPHHRRSLGVYLQEGPVGSTLSLSLDSDQSSGSTTSGSRQAARRSTSTLYSQFQTAESENRSYEGTLYKKGAFMKPWKARWFVLDKTKHQLRYYDHRVDTECKGVIDLAEVEAVAPGTPTMGAPKTVDEKAFFDVKTTRRVYNFCAQDVPSAQQWVDRIQSCLSDA", "length": 592, "header": "tr|A0A8I5KUL5-1|MTMR5_HUMAN Computationally mapped isoform of Myotubularin-related protein 5 OS=Homo sapiens OX=9606 GN=SBF1 PE=1 SV=1 CANONICAL=O95248-1" }, "locus": { "chromosome": "22", "start_pos": 50456673, "end_pos": 50447144, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000692946.1", "url": "https://www.ensembl.org/id/ENST00000692946.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000510472.1", "url": "https://www.ensembl.org/id/ENSP00000510472.1" } ] } }, { "isoform_ac": "A0A8I5KUS0-1", "url": "", "sequence": { "sequence": "VWDFYTEETLAEGPPYDWELAQGPPEPPEEERSDGGAPQSRRRVVWPCYDSCPRAQPDAISRLLEELQRLETELGQPAERWKDTWDRVKAAQRLEGRPDGRGTPSSLLVSTAPHHRRSLGVYLQEGPVGSTLSLSLDSDQSSGSTTSGSRQAARRSTSTLYSQFQTAESENRSYEGTLYKKGAFMKPWKARWFVLDKTKHQSARVSSTWRRWRLWHLARPLWVPLRLWTRRPSLT", "length": 235, "header": "tr|A0A8I5KUS0-1|MTMR5_HUMAN Computationally mapped isoform of Myotubularin-related protein 5 OS=Homo sapiens OX=9606 GN=SBF1 PE=1 SV=1 CANONICAL=O95248-1" }, "locus": { "chromosome": "22", "start_pos": 50454706, "end_pos": 50447240, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000688381.1", "url": "https://www.ensembl.org/id/ENST00000688381.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000508847.1", "url": "https://www.ensembl.org/id/ENSP00000508847.1" } ] } }, { "isoform_ac": "A0A8I5KUU6-1", "url": "", "sequence": { "sequence": "XITNVLSLFCAALTEHKVLFLSRSYQRLADACRGLLALLFPLRYSSM", "length": 47, "header": "tr|A0A8I5KUU6-1|MTMR5_HUMAN Computationally mapped isoform of Myotubularin-related protein 5 OS=Homo sapiens OX=9606 GN=SBF1 PE=1 SV=1 CANONICAL=O95248-1" }, "locus": { "chromosome": "22", "start_pos": 50466482, "end_pos": 50466067, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000689095.1", "url": "https://www.ensembl.org/id/ENST00000689095.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000509430.1", "url": "https://www.ensembl.org/id/ENSP00000509430.1" } ] } }, { "isoform_ac": "A0A8I5KVF2-1", "url": "", "sequence": { "sequence": "MARLADYFVLVAFGPHPRGSGEGQGQILQRFPEKDWEDNPFPQGIELFCQPSGWQLCPERNPPTFFVAVLTDINSERHYCACLTFWEPAEPSQETTRVEDATEREEEGDEGGQTHLSPTAPAPSAQLFAPKTLVLVSRLDHTEVFRNSLGLIYAIHVEGLNVCLENVIGNLLTCTVPLAGGSQRTISLGAGDRQVIQTPLADSLPVSRCSVALLFRQLGITNVLSLFCAALTEHKVLFLSRSYQRLADACRGLLALLFPLRYSFTYVPILPAQLLEVLSTPTPFIIGVNAAFQAETQELLDVIVADLDGGTVTIPECVHIPPLPEPLQSQTHSVLSMVLDPELELADLAFPPPTTSTSSLKMQDKELRAVFLRLFAQLLQGYRWCLHVVRIHPEPVIRFHKAAFLGQRGLVEDDFLMKVLEGMAFAGFVSERGVPYRPTDLFDELVAHEVARMRADENHPQRVLRHVQELAEQLYKNENPYPAVAMHKVQRPGESSHLRRVPRPFPRLDEGTVQWIVDQAAAKMQGAPPAVKAERRTTVPSGPPMTAILERCSGLHVNSARRLEVVRNCISYVFEGKMLEAKKLLPAVLRALKGRAARRCLAQELHLHVQQNRAVLDHQQFDFVVRMMNCCLQDCTSLDEHGIAAALLPLVTAFCRKLSPGVTQFAYSCVQEHVVWSTPQFWEAMFYGDVQTHIRALYLEPTEDLAPAQVGEAPSQEDERSALDVASEQRRLWPTLSREKQQELVQKEESTVFSQAIHYANRMSYLLLPLDSSKSRLLRERAGLGDLESASNSLVTNSMAGSVAESYDTESGFEDAETCDVAGAVVRFINRFVDKVCTESGVTSDHLKGLHVMVPDIVQMHIETLEAVQRESRRLPPIQKPKLLRPRLLPGEECVLDGLRVYLLPDGREEGAGGSAGGPALLPAEGAVFLTTYRVIFTGMPTDPLVGEQVVVRSFPVAALTKEKRISVQTPVDQLLQDGLQLRSCTFQLLKMAFDEEVGSDSAELFRKQLHKLRYPPDIRATFAFTLGSAHTPGRPPRVTKDKGPSLRTLSRNLVKNAKKTIGRQHVTRKKYNPPSWEHRGQPPPEDQEDEISVSEELEPSTLTPSSALKPSDRMTMSSLVERACCRDYQRLGLGTLSSSLSRAKSEPFRISPVNRMYAICRSYPGLLIVPQSVQDNALQRVSRCYRQNRFPVVCWRSGRSKAVLLRSGGLHGKGVVGLFKAQNAPSPGQSQADSSSLEQEKYLQAVVSSMPRYADASGRNTLSGFSSAHMGSHVPSPRARVTTLSNPMAASASRRTAPRGKWGSVRTSGRSSGLGTDVGSRLAGRDALAPPQANGGPPDPGFLRPQRAALYILGDKAQLKGVRSDPLQQWELVPIEVFEARQVKASFKKLLKACVPGCPAAEPSPASFLRSLEDSEWLIQIHKLLQVSVLVVELLDSGSSVLVGLEDGWDITTQVVSLVQLLSDPFYRTLEGFRLLVEKEWLSFGHRFSHRGAHTLAGQSSGFTPVFLQFLDCVHQVHLQFPMEFEFSQFYLKFLGYHHVSRRFRTFLLDSDYERIELGLLYEEKGERRGQVPCRSVWEYVDRLSKRTPVFHNYMYAPEDAEVLRPYSNVSNLKVWDFYTEETLAEGPPYDWELAQGPPEPPEEERSDGGAPQSRRRVVWPCYDSCPRAQPDAISRLLEELQRLETELGQPAERWKDTWDRVKAAQRLEGRPDGRGTPSSLLVSTAPHHRRSLGVYLQEGPVGSTLSLSLDSDQSSGSTTSGSRQAARRSTSTLYSQFQTAESENRSYEGTLYKKGAFMKPWKARWFVLDKTKHQLRYYDHRVDTECKGVIDLAEVEAVAPGTPTMGAPKTVDEKAFFDVKTTRRVYNFCAQDVPSAQQWVDRIQSCLSDA", "length": 1892, "header": "tr|A0A8I5KVF2-1|MTMR5_HUMAN Computationally mapped isoform of Myotubularin-related protein 5 OS=Homo sapiens OX=9606 GN=SBF1 PE=1 SV=1 CANONICAL=O95248-1" }, "locus": { "chromosome": "22", "start_pos": 50474840, "end_pos": 50447145, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000693440.1", "url": "https://www.ensembl.org/id/ENST00000693440.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000509462.1", "url": "https://www.ensembl.org/id/ENSP00000509462.1" } ] } }, { "isoform_ac": "A0A8I5KVI6-1", "url": "", "sequence": { "sequence": "XLGLIYAIHVEGLNVCLENVIGNLLTCTVPLAGGSQASPTCCLCSVPPSRSTRFSSCPGATSGSPMPVGASWHCCFLSDTASPMCPSCRLSCWRSSAHPRPSSLGSTRPSRQRPRSCSM", "length": 119, "header": "tr|A0A8I5KVI6-1|A0A8I5KVI6_HUMAN Computationally mapped isoform of SET binding factor 1 OS=Homo sapiens OX=9606 GN=SBF1 PE=4 SV=1 CANONICAL=O95248-1" }, "locus": { "chromosome": "22", "start_pos": 50467443, "end_pos": 50466066, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000686421.1", "url": "https://www.ensembl.org/id/ENST00000686421.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000509940.1", "url": "https://www.ensembl.org/id/ENSP00000509940.1" } ] } }, { "isoform_ac": "A0A8I5KVL6-1", "url": "", "sequence": { "sequence": "VWDFYTEETLAEGPPYDWELAQGPPEPPEEERSDGGAPQSRRRVVWPCYDSCPRAQPDAISRLLEELQRLETELGQPAERWKDTWDRVKAAQRLEGRPDGREGPVGSTLSLSLDSDQSSGSTTSGSRQAARRSTSTLYSQFQTAESENRSYEGTLYKKGAFMKPWKARWFVLDKTKHQLRYYDHRVDTECKGVIDLAEVEAVAPGTPTMGAPKTVDEKAFFDVKTTRRVYNFCAQDVPSAQQWVDRIQSCLSDA", "length": 254, "header": "tr|A0A8I5KVL6-1|A0A8I5KVL6_HUMAN Computationally mapped isoform of SET binding factor 1 OS=Homo sapiens OX=9606 GN=SBF1 PE=1 SV=1 CANONICAL=O95248-1" }, "locus": { "chromosome": "22", "start_pos": 50454706, "end_pos": 50447145, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000693068.1", "url": "https://www.ensembl.org/id/ENST00000693068.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000509997.1", "url": "https://www.ensembl.org/id/ENSP00000509997.1" } ] } }, { "isoform_ac": "A0A8I5KW56-1", "url": "", "sequence": { "sequence": "VGSDSAELFRKQLHKLRYPPDIRATFAFTLGSAHTPGRPPRVTKDKGPSLRTLSRNLVKNAKKTIGRQHVTRKKYNPPSWEHRGQPPPEDQEDEISVSEELEPSTLTPSSALKPSDRMTMSSLVERACCRDYQRLGLGTLSSSLSRAKSEPFRISPVNRMYAICRSYPGLLIVPQSVQDNALQRVSRCYRQNRFPVVCWRSGRSKAVLLRSGGLHGKGVVGLFKAQNAPSPGQSQADSSSLEQEKYLQAVVSSMPRYADASGRNTLSGFSSAHMGSHVPSPRARVTTLSNPMAASASRRTAPRVGQCPDQWTQQWPWHRCGLPASWQRRAGPTPGQRGPSRPGLPASAASSPLYPWGQSPAQGCAVRPPAAVGAGAH", "length": 377, "header": "tr|A0A8I5KW56-1|A0A8I5KW56_HUMAN Computationally mapped isoform of SET binding factor 1 OS=Homo sapiens OX=9606 GN=SBF1 PE=1 SV=1 CANONICAL=O95248-1" }, "locus": { "chromosome": "22", "start_pos": 50460685, "end_pos": 50456352, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000688985.1", "url": "https://www.ensembl.org/id/ENST00000688985.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000510477.1", "url": "https://www.ensembl.org/id/ENSP00000510477.1" } ] } }, { "isoform_ac": "A0A8I5KWB4-1", "url": "", "sequence": { "sequence": "MARLADYFVLVAFGPHPRGSGEGQGQILQRFPEKDWEDNPFPQGIELFCQPSGWQLCPERNPPTFFVAVLTDINSERHYCACLTFWEPAEPSQQETTRVEDATEREEEGDEGGQTHLSPTAPAPSAQLFAPKTLVLVSRLDHTEVFRPWPHLCHPRGGPECVPGERDWEPADVHCAPGWGLAEDDLFGGW", "length": 190, "header": "tr|A0A8I5KWB4-1|MTMR5_HUMAN Computationally mapped isoform of Myotubularin-related protein 5 OS=Homo sapiens OX=9606 GN=SBF1 PE=1 SV=1 CANONICAL=O95248-1" }, "locus": { "chromosome": "22", "start_pos": 50474840, "end_pos": 50466688, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000688848.1", "url": "https://www.ensembl.org/id/ENST00000688848.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000509419.1", "url": "https://www.ensembl.org/id/ENSP00000509419.1" } ] } }, { "isoform_ac": "A0A8I5KWI8-1", "url": "", "sequence": { "sequence": "XCKGVIDLAEVEAVAPGTPTMGAPKTVDEKAFFDVKTTRRVYNFCAQDVPSAQQWVDRIQSCLSDA", "length": 66, "header": "tr|A0A8I5KWI8-1|MTMR5_HUMAN Computationally mapped isoform of Myotubularin-related protein 5 OS=Homo sapiens OX=9606 GN=SBF1 PE=1 SV=1 CANONICAL=O95248-1" }, "locus": { "chromosome": "22", "start_pos": 50447422, "end_pos": 50447144, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000690197.1", "url": "https://www.ensembl.org/id/ENST00000690197.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000510380.1", "url": "https://www.ensembl.org/id/ENSP00000510380.1" } ] } }, { "isoform_ac": "A0A8I5KX98-1", "url": "", "sequence": { "sequence": "MARLADYFVLVAFGPHPRGSGEGQGQILQRFPEKDWEDNPFPQGIELFCQPSGWQLCPERNPPTFFVAVLTDINSERHYCACLTFWEPAEPSQETTRVEDATEREEEGDEGGQTHLSPTAPAPSAQLFAPKTLVLVSRLDHTEVFRPWPHLCHPRGGPECVPGERDWEPADVHCAPGWGLAEDDLFGGW", "length": 189, "header": "tr|A0A8I5KX98-1|MTMR5_HUMAN Computationally mapped isoform of Myotubularin-related protein 5 OS=Homo sapiens OX=9606 GN=SBF1 PE=1 SV=1 CANONICAL=O95248-1" }, "locus": { "chromosome": "22", "start_pos": 50474840, "end_pos": 50466688, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000686222.1", "url": "https://www.ensembl.org/id/ENST00000686222.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000508737.1", "url": "https://www.ensembl.org/id/ENSP00000508737.1" } ] } }, { "isoform_ac": "A0A8I5KXH4-1", "url": "", "sequence": { "sequence": "VGEAPSQEDERSALDVASEQRRLWPTLSREKQQELVQKEESTVFSQAIHYANRMSYLLLPLDSSKSRLLRERAGLGDLESASNSLVTNSMAGSVAESYDTESGFEDAETCDVAGAVVRFINRFVDKVCTESGVTSDHLKGLHVMVPDIVQMHIETLEAVQRESRRLPPIQKPKLLRPRLLPGEECVLDGLRVYLLPDGREEGAGGSAGGPALLPAEGAVFLTTYRVIFTGMPTDPLVGEQVVVRSFPVAALTKEKRISVQTPVDQLLQDGLQLRSCTFQVGSDSAELFRKQLHKLRYPPDIRATFAFTLGSAHTPGRPPRVTKDKGPSLRTLSRNLVKNAKKTIGRQHVTRKKYNPPSWEHRGQPPPEDQEDEISVSEELEPSTLTPSSALKPSDRMTMSSLVERACCRDYQRLGLGTLSSSLSRAKSEPFRISPVNRMYAICRSYPGLLIVPQSVQDNALQRVSRCYRQNRFPVVCWRSGRSKAVLLRSGGLHGKGVVGLFKAQNAPSP", "length": 510, "header": "tr|A0A8I5KXH4-1|MTMR5_HUMAN Computationally mapped isoform of Myotubularin-related protein 5 OS=Homo sapiens OX=9606 GN=SBF1 PE=1 SV=1 CANONICAL=O95248-1" }, "locus": { "chromosome": "22", "start_pos": 50462470, "end_pos": 50459471, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000685386.1", "url": "https://www.ensembl.org/id/ENST00000685386.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000510338.1", "url": "https://www.ensembl.org/id/ENSP00000510338.1" } ] } }, { "isoform_ac": "A0A8I5KXN1-1", "url": "", "sequence": { "sequence": "MARLADYFVLVAFGPHPRGSGEGQGQILQRFPEKDWEDNPFPQGIELPSGWQLCPERNPPTFFVAVLTDINSERHYCACLTFWEPAEPSQQETTRVEDATEREEEGDEGGQTHLSPTAPAPSAQLFAPKTLVLVSRLDHTEVFRNSLGLIYAIHVEGLNVCLENVIGNLLTCTVPLAGGSQRTISLGAGDRQVIQTPLADSLPVSRCSVALLFRQLGITNVLSLFCAALTEHKVLFLSRSYQRLADACRGLLALLFPLRYSFTYVPILPAQLLEVLSTPTPFIIGVNAAFQAETQELLDVIVADLDGGTVTIPECVHIPPLPEPLQSQTHSVLSMVLDPELELADLAFPPPTTSTSSLKMQDKELRAVFLRLFAQLLQGYRWCLHVVRIHPEPVIRFHKAAFLGQRGLVEDDFLMKVLEGMAFAGFVSERGVPYRPTDLFDELVAHEVARMRADENHPQRVLRHVQELAEQLYKNENPYPAVAMHKVQRPGESSHLRRVPRPFPRLDEGTVQWIVDQAAAKMQGAPPAVKAERRTTVPSGPPMTAILERCSGLHVNSARRLEVVRNCISYVFEGKMLEAKKLLPAVLRALKGRAARRCLAQELHLHVQQNRAVLDHQQFDFVVRMMNCCLQDCTSLDEHGIAAALLPLVTAFCRKLSPGVTQFAYSCVQEHVVWSTPQFWEAMFYGDVQTHIRALYLEPTEDLAPAQVGEAPSQEDERSALDVASEQRRLWPTLSREKQQELVQKEESTVFSQAIHYANRMSYLLLPLDSSKSRLLRERAGLGDLESASNSLVTNSVAESYDTESGFEDAETCDVAGAVVRFINRFVDKVCTESGVTSDHLKGLHVMVPDIVQMHIETLEAVQRESRRLPPIQKPKLLRPRLLPGEECVLDGLRVYLLPDGREEGAGGSAGGPALLPAEGAVFLTTYRVIFTGMPTDPLVGEQVVVRSFPVAALTKEKRISVQTPVDQLLQDGLQLRSCTFQLLKMAFDEEVGSDSAELFRKQLHKLRYPPDIRATFAFTLGSAHTPGRPPRVTKDKGPSLRTLSRNLVKNAKKTIGRQHVTRKKYNPPSWEHRGQPPPEDQEDEISVSEELEPSTLTPSSALKPSDRMTMSSLVERACCRDYQRLGLGTLSSSLSRAKSEPFRISPVNRMYAICRSYPGLLIVPQSVQDNALQRVSRCYRQNRFPVVCWRSGRSKAVLLRSGGLHGKGVVGLFKAQNAPSPGQSQADSSSLEQEKYLQAVVSSMPRYADASGRNTLSGFSSAHMGSHGKWGSVRTSGRSSGLGTDVGSRLAGRDALAPPQANGGPPDPGFLRPQRAALYILGDKAQLKGVRSDPLQQWELVPIEVFEARQVKASFKKLLKACVPGCPAAEPSPASFLRSLEDSEWLIQIHKLLQVSVLVVELLDSGSSVLVGLEDGWDITTQVVSLVQLLSDPFYRTLEGFRLLVEKEWLSFGHRFSHRGAHTLAGQSSGFTPVFLQFLDCVHQVHLQFPMEFEFSQFYLKFLGYHHVSRRFRTFLLDSDYERIELGLLYEEKGERRGQVPCRSVWEYVDRLSKRTPVFHNYMYAPEDAEVLRPYSNVSNLKVWDFYTEETLAEGPPYDWELAQGPPEPPEEERSDGGAPQSRRRVVWPCYDSCPRAQPDAISRLLELQRLETELGQPAERWKDTWDRVKAAQRLEGRPDGRGTPSSLLVSTAPHHRRSLGVYLQEGPVGSTLSLSLDSDQSSGSTTSGSRQAARRSTSTLYSQFQTAESENRSYEGTLYKKGAFMKPWKARWFVLDKTKHQLRYYDHRVDTECKGVIDLAEVEAVAPGTPTMGAPKTVDEKAFFDVKTTRRVYNFCAQDVPSAQQWVDRIQSCLSDA", "length": 1859, "header": "tr|A0A8I5KXN1-1|MTMR5_HUMAN Computationally mapped isoform of Myotubularin-related protein 5 OS=Homo sapiens OX=9606 GN=SBF1 PE=1 SV=1 CANONICAL=O95248-1" }, "locus": { "chromosome": "22", "start_pos": 50474840, "end_pos": 50447145, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000687016.1", "url": "https://www.ensembl.org/id/ENST00000687016.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000509074.1", "url": "https://www.ensembl.org/id/ENSP00000509074.1" } ] } }, { "isoform_ac": "A0A8I5KXX8-1", "url": "", "sequence": { "sequence": "MARLADYFVLVAFGPHPRGSGEGQGQILQRFPEKDWEDNPFPQGIELFCQPSGWQLCPERNPPTFFVAVLTDINSERHYCACLTFWEPAEPSQETTRVEDATEREEEGDEGGQTHLSPTAPAPSAQLFAPKTLVLVSRLDHTEVFRNSLGLIYAIHVEGLNVCLENVIGNLLTCTVPLAGGSQRTISLGAGDRQVIQTPLADSLPVSRCSVALLFRQLGITNVLSLFCAALTEHKVLFLSRSYQRLADACRGLLALLFPLRYSFTYVPILPAQLLEVLSTPTPFIIGVNAAFQAETQELLDVIVADLDGGTVTIPECVHIPPLPEPLQSQTHSVLSMVLDPELELADLAFPPPTTSTSSLKMQDKELRAVFLRLFAQLLQGYRWCLHVVRIHPEPVIRFHKAAFLGQRGLVEDDFLMKVLEGMAFAGFVSERGVPYRPTDLFDELVAHEVARMRADENHPQRVLRHVQELAEQLYKNENPYPAVAMHKVQRPGESSHLRRVPRPFPRLDEGTVQWIVDQAAAKMQGAPPAVKAERRTTVPSGPPMTAILERCSGLHVNSARRLEVVRNCISYVFEGKMLEAKKLLPAVLRALKGRAARRCLAQELHLHVQQNRAVLDHQQFDFVVRMMNCCLQDCTSLDEHGIAAALLPLVTAFCRKLSPGVTQFAYSCVQEHVVWSTPQFWEAMFYGDVQTHIRALYLEPTEDLAPAQVGEAPSQEDERSALDVASEQRRLWPTLSREKQQELVQKEESTVFSQAIHYANRMSYLLLPLDSSKSRLLRERAGLGDLESASNSLVTNSMAGSVAESYDTESGFEDAETCDVAGAVVRFINRFVDKVCTESGVTSDHLKGLHVMVPDIVQMHIETLEAVQRESRRLPPIQKPKLLRPRLLPGEECVLDGLRVYLLPDGREEGAGGSAGGPALLPAEGAVFLTTYRVIFTGMPTDPLVGEQVVVRSFPVAALTKEKRISVQTPVDQLLQDGLQLRSCTFQLLKMAFDEEVGSDSAELFRKQLHKLRYPPDIRATFAFTLGSAHTPGRPPRVTKDKGPSLRTLSRNLVKNAKKTIGRQHVTRKKYNPPSWEHRGQPPPEDQEDEISVSEELEPSTLTPSSALKPSDRMTMSSLVERACCRDYQRLGLGTLSSSLSRAKSEPFRISPVNRMYAICRSYPGLLIVPQSVQDNALQRVSRCYRQNRFPVVCWRSGRSKAVLLRSGGLHGKGVVGLFKAQNAPSPGQSQADSSSLEQEKYLQAVVSSMPRYADASGRNTLSGFSSAHMGSHGKWGSVRTSGRSSGLGTDVGSRLAGRDALAPPQANGGPPDPGFLRPQRAALYILGDKAQLKGVRSDPLQQWELVPIEVFEARQVKASFKKLLKACVPGCPAAEPSPASFLRSLEDSEWLIQIHKLLQVSVLVVELLDSGSSVLVGLEDGWDITTQVVSLVQLLSDPFYRTLEGFRLLVEKEWLSFGHRFSHRGAHTLAGQSSGFTPVFLQFLDCVHQVHLQFPMEFEFSQFYLKFLGYHHVSRRFRTFLLDSDYERIELGLLYEEKGERRGQVPCRSVWEYVDRLSKRTPVFHNYMYAPEDAEVLRPYSNVSNLKVWDFYTEETLAEGPPYDWELAQGPPEPPEEERSDGGAPQSRRRVVWPCYDSCPRAQPDAISRLLEELQRLETELGQPAERWKDTWDRVKAAQRLEGRPDGRGTPSSLLVSTAPHHRRSLGVYLQEGPVGSTLSLSLDSDQSSGSTTSGSRQAARRSTSTLYSQFQTAESENRSYEGTLYKKGAFMKPWKARWFVLDKTKHQLRYYDHRVDTECKGVIDLAEVEAVAPGTPTMGAPKTVDEKAFFDVKTTRRVYNFCAQDVPSAQQWVDRIQSCLSDA", "length": 1866, "header": "tr|A0A8I5KXX8-1|MTMR5_HUMAN Computationally mapped isoform of Myotubularin-related protein 5 OS=Homo sapiens OX=9606 GN=SBF1 PE=1 SV=1 CANONICAL=O95248-1" }, "locus": { "chromosome": "22", "start_pos": 50474840, "end_pos": 50447145, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000691233.1", "url": "https://www.ensembl.org/id/ENST00000691233.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000509215.1", "url": "https://www.ensembl.org/id/ENSP00000509215.1" } ] } }, { "isoform_ac": "A0A8I5KXX9-1", "url": "", "sequence": { "sequence": "XKWGSVRTSGRSSGLGTDVGSRLAGRDALAPPQANGGPPDPGFLRPQRAALYILGDKAQLKGVRSDPLQQWELVPIEVFEARQVKASFKKLLKACVPGCPAAEPSPASFLRSLEDSEWLIQIHKLLQVSVLVVELLDSGSSVLVGLEDGWDITTQVVSLVQLLSDPFYRTLEGFRLLVEKEWLSFGHRFSHRGAHTLAGQSSGFTPVFLQFLDCVHQVHLQFPMEFEFSQFYLKFLGYHHVSRRFRTFLLDSDYERIELGLLYEEKGERRGQVPCRSVWEYVDRLSKRTPVFHNYMYAPEDAEVLRPYSNVSNLKVWDFYTEETLAEGPPYDWELAQGPPEPPEEERSDGGAPQSRRRVVWPCYDSCPRAQPDAISRLLEELQRLETELGQPAERWKDTWDRVKAAQRLEGRPDGRGTPSSLLVSTAPHHRRSLGVYLQEGPVGSTLSLSLDSDQSSGSTTSGSRQAARRSTSTLYSQFQTAESENRSTCLAIPLLVRAPALCRGLLSQDPEALVWGCSLESGGCEAPFTVSFLGVVFLGLQPPIKGFFVAPWPVLWA", "length": 558, "header": "tr|A0A8I5KXX9-1|MTMR5_HUMAN Computationally mapped isoform of Myotubularin-related protein 5 OS=Homo sapiens OX=9606 GN=SBF1 PE=1 SV=1 CANONICAL=O95248-1" }, "locus": { "chromosome": "22", "start_pos": 50456673, "end_pos": 50447741, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000686321.1", "url": "https://www.ensembl.org/id/ENST00000686321.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000510774.1", "url": "https://www.ensembl.org/id/ENSP00000510774.1" } ] } }, { "isoform_ac": "A0A8I5KY28-1", "url": "", "sequence": { "sequence": "MVSPPVGDPWSVCHWAARVAHLFPGGPGSGEGQGQILQRFPEKDWEDNPFPQGIELFCQPSGWQLCPERNPPTFFVAVLTDINSERHYCACLTFWEPAEPSQETTRVEDATEREEEGDEGGQTHLSPTAPAPSAQLFAPKTLVLVSRLDHTEVFR", "length": 155, "header": "tr|A0A8I5KY28-1|MTMR5_HUMAN Computationally mapped isoform of Myotubularin-related protein 5 OS=Homo sapiens OX=9606 GN=SBF1 PE=1 SV=1 CANONICAL=O95248-1" }, "locus": { "chromosome": "22", "start_pos": 50469869, "end_pos": 50467532, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000687340.1", "url": "https://www.ensembl.org/id/ENST00000687340.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000509356.1", "url": "https://www.ensembl.org/id/ENSP00000509356.1" } ] } }, { "isoform_ac": "A0A8I5KY61-1", "url": "", "sequence": { "sequence": "MARLADYFVLVAFGPHPRGSGEGQGQILQRFPEKDWEDNPFPQGIELFCQPSGWQLCPERNPPTFFVAVLTDINSERHYCACLTFWEPAEPSQETTRVEDATEREEEGDEGGQTHLSPTAPAPSAQLFAPKTLVLVSRLDHTEVFRNSLGLIYAIHVEGLNVCLENVIGNLLTCTVPLAGGSQRTISLGAGDRQVIQTPLADSLPVSRCSVALLFRQLGITNVLSLFCAALTEHKVLFLSRSYQRLADACRGLLALLFPLRYSFTYVPILPAQLLEVLSTPTPFIIGVNAAFQAETQELLDVIVADLDGGTVTIPECVHIPPLPEPLQSQTHSVLSMVLDPELELADLAFPPPTTSTSSLKMQDKELRAVFLRLFAQLLQGYRWCLHVVRIHPEPVIRFHKAAFLGQRGLVEDDFLMKVLEGMAFAGFVSERGVPYRPTDLFDELVAHEVARMRADENHPQRVLRHVQELAEQLYKNENPYPAVAMHKVQRPGESSHLRRVPRPFPRLDEGTVQWIVDQAAAKMQGAPPAVKAERRTTVPSGPPMTAILERCSGLHVNSARRLEVVRNCISYVFEGKMLEAKKLLPAVLRALKGRAARRCLAQELHLHVQQNRAVLDHQQFDFVVRMMNCCLQDCTSLDEHGIAAALLPLVTAFCRKLSPGVTQFAYSCVQEHVVWSTPQFWEAMFYGDVQTHIRALYLEPTEDLAPAQEVGEAPSQEDERSALDVASEQRRLWPTLSREKQQELVQKEESTVFSQAIHYANRMSYLLLPLDSSKSRLLRERAGLGDLESASNSLVTNSMAGSVAESYDTESGFEDAETCDVAGAVVRFINRFVDKVCTESGVTSDHLKGLHVMVPDIVQMHIETLEAVQRESRRLPPIQKPKLLRPRLLPGEECVLDGLRVYLLPDGREEGAGGSAGGPALLPAEGAVFLTTYRVIFTGMPTDPLVGEQVVVRSFPVAALTKEKRISVQTPVDQLLQDGLQLRSCTFQLLKMAFDEEVGSDSAELFRKQLHKLRYPPDIRATFAFTLGSAHTPGRPPRVTKDKGPSLRTLSRNLVKNAKKTIGRQHVTRKKYNPPSWEHRGQPPPEDQEDEISVSEELEPSTLTPSSALKPSDRMTMSSLVERACCRDYQRLGLGTLSSSLSRAKSEPFRISPVNRMYAICRSYPGLLIVPQSVQDNALQRVSRCYRQNRFPVVCWRSGRSKAVLLRSGGLHGKGVVGLFKAQNAPSPAPCPPPGQSQADSSSLEQEKYLQAVVSSMPRYADASGRNTLSGFSSAHMGSHVPSPRARVTTLSNPMAASASRRTAPRGKWGSVRTSGRSSGLGTDVGSRLAGRDALAPPQANGGPPDPGFLRPQRAALYILGDKAQLKGVRSDPLQQWELVPIEVFEARQVKASFKKLLKACVPGCPAAEPSPASFLRSLEDSEWLIQIHKLLQVSVLVVELLDSGSSVLVGLEDGWDITTQVVSLVQLLSDPFYRTLEGFRLLVEKEWLSFGHRFSHRGAHTLAGQSSGFTPVFLQFLDCVHQVHLQFPMEFEFSQFYLKFLGYHHVSRRFRTFLLDSDYERIELGLLYEEKGERRGQVPCRSVWEYVDRLSKRTPVFHNYMYAPEDAEVLRPYSNVSNLKVWDFYTEETLAEGPPYDWELAQGPPEPPEEERSDGGAPQSRRRVVWPCYDSCPRAQPDAISRLLEELQRLETELGQPAERWKDTWDRVKAAQRLEGRPDGRGTPSSLLVSTAPHHRRSLGVYLQEGPVGSTLSLSLDSDQSSGSTTSGSRQAARRSTSTLYSQFQTAESENRSYEGTLYKKGAFMKPWKARWFVLDKTKHQLRYYDHRVDTECKGVIDLAEVEAVAPGTPTMGAPKTVDEKAFFDVKTTRRVYNFCAQDVPSAQQWVDRIQSCLSDA", "length": 1899, "header": "tr|A0A8I5KY61-1|MTMR5_HUMAN Computationally mapped isoform of Myotubularin-related protein 5 OS=Homo sapiens OX=9606 GN=SBF1 PE=1 SV=1 CANONICAL=O95248-1" }, "locus": { "chromosome": "22", "start_pos": 50474840, "end_pos": 50447145, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000693052.1", "url": "https://www.ensembl.org/id/ENST00000693052.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000509558.1", "url": "https://www.ensembl.org/id/ENSP00000509558.1" } ] } }, { "isoform_ac": "A0A8I5KYG9-1", "url": "", "sequence": { "sequence": "MARLADYFVLVAFGPHPRGSGEGQGQILQRFPEKDWEDNPFPQGIELFCQPSGWQLCPERNPPTFFVAVLTDINSERHYCACLTFWEPAEPSQETTRVEDATEREEEGDEGGQTHLSPTAPAPSAQLFAPKTLVLVSRLDHTENSLGLIYAIHVEGLNVCLENVIGNLLTCTVPLAGGSQRTISLGAGDRQVIQTPLADSLPVSRCSVALLFRQLGITNVLSLFCAALTEHKVLFLSRSYQRLADACRGLLALLFPLRYSFTYVPILPAQLLEVLSTPTPFIIGVNAAFQAETQELLDVIVADLDGGTVTIPECVHIPPLPEPLQSQTHSVLSMVLDPELELADLAFPPPTTSTSSLKMQDKELRAVFLRLFAQLLQGYRWCLHVVRIHPEPVIRFHKAAFLGQRGLVEDDFLMKVLEGMAFAGFVSERGVPYRPTDLFDELVAHEVARMRADENHPQRVLRHVQELAEQLYKNENPYPAVAMHKVQRPGESSHLRRVPRPFPRLDEGTVQWIVDQAAAKMQGAPPAVKAERRTTVPSGPPMTAILERCSGLHVNSARRLEVVRNCISYVFEGKMLEAKKLLPAVLRALKGRAARRCLAQELHLHVQQNRAVLDHQQFDFVVRMMNCCLQDCTSLDEHGIAAALLPLVTAFCRKLSPGVTQFAYSCVQEHVVWSTPQFWEAMFYGDVQTHIRALYLEPTEDLAPAQVGEAPSQEDERSALDVASEQRRLWPTLSREKQQELVQKEESTVFSQAIHYANRMSYLLLPLDSSKSRLLRERAGLGDLESASNSLVTNSMAGSVAESYDTESGFEDAETCDVAGAVVRFINRFVDKVCTESGVTSDHLKGLHVMVPDIVQMHIETLEAVQRESRRLPPIQKPKLLRPRLLPGEECVLDGLRVYLLPDGREEGAGGSAGGPALLPAEGAVFLTTYRVIFTGMPTDPLVGEQVVVRSFPVAALTKEKRISVQTPVDQLLQDGLQLRSCTFQLLKMAFDEEVGSDSAELFRKQLHKLRYPPDIRATFAFTLGSAHTPGRPPRVTKDKGPSLRTLSRNLVKNAKKTIGRQHVTRKKYNPPSWEHRGQPPPEDQEDEISVSEELEPSTLTPSSALKPSDRMTMSSLVERACCRDYQRLGLGTLSSSLSRAKSEPFRISPVNRMYAICRSYPGLLIVPQSVQDNALQRVSRCYRQNRFPVVCWRSGRSKAVLLRSGGLHGKGVVGLFKAQNAPSPGQSQADSSSLEQEKYLQAVVSSMPRYADASGRNTLSGFSSAHMGSHVPSPRARVTTLSNPMAASASRRTAPRGKWGSVRTSGRSSGLGTDVGSRLAGRDALAPPQANGGPPDPGFLRPQRAALYILGDKAQLKGVRSDPLQQWELVPIEVFEARQVKASFKKLLKACVPGCPAAEPSPASFLRSLEDSEWLIQIHKLLQVSVLVVELLDSGSSVLVGLEDGWDITTQVVSLVQLLSDPFYRTLEGFRLLVEKEWLSFGHRFSHRGAHTLAGQSSGFTPVFLQFLDCVHQVHLQFPMEFEFSQFYLKFLGYHHVSRRFRTFLLDSDYERIELGLLYEEKGERRGQVPCRSVWEYVDRLSKRTPVFHNYMYAPEDAEVLRPYSNVSNLKVWDFYTEETLAEGPPYDWELAQGPPEPPEEERSDGGAPQSRRRVVWPCYDSCPRAQPDAISRLLEELQRLETELGQPAERWKDTWDRVKAAQRLEGRPDGRHP", "length": 1715, "header": "tr|A0A8I5KYG9-1|MTMR5_HUMAN Computationally mapped isoform of Myotubularin-related protein 5 OS=Homo sapiens OX=9606 GN=SBF1 PE=1 SV=1 CANONICAL=O95248-1" }, "locus": { "chromosome": "22", "start_pos": 50474840, "end_pos": 50448437, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000686801.1", "url": "https://www.ensembl.org/id/ENST00000686801.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000509915.1", "url": "https://www.ensembl.org/id/ENSP00000509915.1" } ] } }, { "isoform_ac": "A0A8I5KYT4-1", "url": "", "sequence": { "sequence": "XKWGSVRTSGRSSGLGTDVGSRLAGRDALAPPQANGGPPDPGFLRPQRAALYILGDKAQLKGVRSDPLQQWELVPIEVFEARQVKASFKKLLKACVPGCPAAEPSPASFLRSLEDSEWLIQIHKLLQVSVLVVELLDSGSSVLVGLEDGWDITTQLLSDPFYRTLEGFRLLVEKEWLSFGHRFSHRGAHTLAGQSSGFTPVFLQFLDCVHQVHLQFPMEFEFSQFYLKFLGYHHVSRRFRTFLLDSDYERIELGLLYEEKGERRGQVPCRSVWEYVDRLSKRTPVFHNYMYAPEDAE", "length": 297, "header": "tr|A0A8I5KYT4-1|MTMR5_HUMAN Computationally mapped isoform of Myotubularin-related protein 5 OS=Homo sapiens OX=9606 GN=SBF1 PE=1 SV=1 CANONICAL=O95248-1" }, "locus": { "chromosome": "22", "start_pos": 50456673, "end_pos": 50454814, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000686029.1", "url": "https://www.ensembl.org/id/ENST00000686029.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000510100.1", "url": "https://www.ensembl.org/id/ENSP00000510100.1" } ] } }, { "isoform_ac": "A0A8I5KZ29-1", "url": "", "sequence": { "sequence": "XQSQADSSSLEQEKYLQAVVSSMPRYADASGRNTLSGFSSAHMGSHGKWGSVRTSGRSSGLGTDVGSRLAGRDALAPPQANGGPPDPGFLRPQRAALYILGDKAQLKGVRSDPLQQWELVPIEVFEARQVKASFKKLLKACVPGCPAAEPSPASFLRSLEDSEWLIQIHKLLQVSVLVVELLDSGSSVLVGLEDGWDITTQVVSLVQLLSDPFYRTLEGFRLLVEKEWLSFGHRFSHRGAHTLAGQSSGFTPVFLQFLDCVHQVHLQFPMEFEFSQFYLKFLGYHHVSRRFRTFLLDSDYERIELGLLYEEKGERRGQVPCRSVWEYVDRLSKRTPVFHNYMYAPEDAEVLRPYSNVSNLKVWDFYTEETLAEGPPYDWELAQGPPEPPEEERSDGGAPQSRRRVVWPCYDSCPRAQPDAISRLLEELQRLETELGQPAERWKDTWDRVKAAQRLEGRPDGRVSEGQWHP", "length": 470, "header": "tr|A0A8I5KZ29-1|A0A8I5KZ29_HUMAN Computationally mapped isoform of SET binding factor 1 OS=Homo sapiens OX=9606 GN=SBF1 PE=1 SV=1 CANONICAL=O95248-1" }, "locus": { "chromosome": "22", "start_pos": 50459392, "end_pos": 50448436, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000685592.1", "url": "https://www.ensembl.org/id/ENST00000685592.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000510664.1", "url": "https://www.ensembl.org/id/ENSP00000510664.1" } ] } }, { "isoform_ac": "A0A8I5QJN2-1", "url": "", "sequence": { "sequence": "XLGLIYAIHVEGLNVCLENVIGNLLTCTVPLAGGSQRTISLGAGDRQVIQTPLADSLPVSRCSVALLFRQLGSSPSFSSSFRHHQRAVFVLCRPHGAQGSLPVPELPAARRCL", "length": 113, "header": "tr|A0A8I5QJN2-1|MTMR5_HUMAN Computationally mapped isoform of Myotubularin-related protein 5 OS=Homo sapiens OX=9606 GN=SBF1 PE=1 SV=1 CANONICAL=O95248-1" }, "locus": { "chromosome": "22", "start_pos": 50467443, "end_pos": 50466387, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000687878.1", "url": "https://www.ensembl.org/id/ENST00000687878.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000509948.1", "url": "https://www.ensembl.org/id/ENSP00000509948.1" } ] } }, { "isoform_ac": "A0A8I5QKN6-1", "url": "", "sequence": { "sequence": "XKWGSVRTSGRSSGLGTDVGSRLAGRDALAPPQANGGPPDPGFLRPQRAALYILGDKAQLKGVRSDPLQQWELVPIEVFEARQVKASFKKLLKACVPGCPAAEPSPASFLRSLEDSEWLIQIHKLLQVSVLVVELLDSGSSVLVGLEDGWDITTQVWYPWCSCSQTPSTARWRAFACWWRRSGCPSAIASATVELTPWPGRAAASHPSSCSSWTAYTRSTCSSPWSLSSASSTSSSSATTMCPAVSGPSCSTLTMSALSWKGERRGQVPCRSVWEYVDRLSKRTPVFHNYMYAPEDAEVLRPYSNVSNLKVWDFYTEETLAEGPPYDWELAQGPPEPPEEERSDGGAPQSRRRVVWPCYDSCPRAQPDAISRLLEELQRLETELGQPAERWKDTWDRVKAAQRLEGRPDGR", "length": 411, "header": "tr|A0A8I5QKN6-1|MTMR5_HUMAN Computationally mapped isoform of Myotubularin-related protein 5 OS=Homo sapiens OX=9606 GN=SBF1 PE=1 SV=1 CANONICAL=O95248-1" }, "locus": { "chromosome": "22", "start_pos": 50456673, "end_pos": 50448543, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000691306.1", "url": "https://www.ensembl.org/id/ENST00000691306.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000508964.1", "url": "https://www.ensembl.org/id/ENSP00000508964.1" } ] } }, { "isoform_ac": "A0A8I5QKT8-1", "url": "", "sequence": { "sequence": "VWDFYTEETLAEGPPYDWELAQGPPEPPEEERSDGGAPQSRRRVVWPCYDSCPRAQPDAISRLLEELQRLETELGQPAERWKDTWDRVKAAQRLEGRPDGRGTPSSLLVSTAPHHRRSLGVYLQEGPVGSTLSLSLDSDQSSGSTTSGSRQAARRSTSTLYSQFQTAESENRSYEGTLYKKGAFMKPWKARWFVLDKTKHQLRYYDHRVDTECKGVIDLAEVEAVAPGTPTMGAPKTVDEKAFFDVSLGRGLGEGRGSAVWGLRSQ", "length": 266, "header": "tr|A0A8I5QKT8-1|A0A8I5QKT8_HUMAN Computationally mapped isoform of SET binding factor 1 OS=Homo sapiens OX=9606 GN=SBF1 PE=1 SV=1 CANONICAL=O95248-1" }, "locus": { "chromosome": "22", "start_pos": 50454706, "end_pos": 50447259, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000685459.1", "url": "https://www.ensembl.org/id/ENST00000685459.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000509511.1", "url": "https://www.ensembl.org/id/ENSP00000509511.1" } ] } }, { "isoform_ac": "A0A8J8YTQ8-1", "url": "", "sequence": { "sequence": "MARLADYFVLVAFGPHPRGSGEGQGQILQRFPEKDWEDNPFPQGIELFCQPSGWQLCPERNPPTFFVAVLTDINSERHYCACLTFWEPAEPSQETTRVEDATEREEEGDEGGQTHLSPTAPAPSAQLFAPKTLVLVSRLDHTEVFRNSLGLIYAIHVEGLNVCLENVIGNLLTCTVPLAGGSQRTISLGAGDRQVIQTPLADSLPVSRCSVALLFRQLGITNVLSLFCAALTEHKVLFLSRSYQRLADACRGLLALLFPLRYSFTYVPILPAQLLEVLSTPTPFIIGVNAAFQAETQELLDVIVADLDGGTVTIPECVHIPPLPEPLQSQTHSVLSMVLDPELELADLAFPPPTTSTSSLKMQDKELRAVFLRLFAQLLQGYRWCLHVVRIHPEPVIRFHKAAFLGQRGLVEDDFLMKVLEGMAFAGFVSERGVPYRPTDLFDELVAHEVARMRADENHPQRVLRHVQELAEQLYKNENPYPAVAMHKVQRPGESSHLRRVPRPFPRLDEGTVQWIVDQAAAKMQGAPPAVKAERRTTVPSGPPMTAILERCSGLHVNSARRLEVVRNCISYVFEGKMLEAKKLLPAVLRALKGRAARRCLAQELHLHVQQNRAVLDHQQFDFVVRMMNCCLQDCTSLDEHGIAAALLPLVTAFCRKLSPGVTQFAYSCVQEHVVWSTPQFWEAMFYGDVQTHIRALYLEPTEDLAPAQEVGEAPSQEDERSALDVASEQRRLWPTLSREKQQELVQKEESTVFSQAIHYANRMSYLLLPLDSSKSRLLRERAGLGDLESASNSLVTNSMAGSVAESYDTESGFEDAETCDVAGAVVRFINRFVDKVCTESGVTSDHLKGLHVMVPDIVQMHIETLEAVQRESRRLPPIQKPKLLRPRLLPGEECVLDGLRVYLLPDGREEGAGGSAGGPALLPAEGAVFLTTYRVIFTGMPTDPLVGEQVVVRSFPVAALTKEKRISVQTPVDQLLQDGLQLRSCTFQLLKMAFDEEVGSDSAELFRKQLHKLRYPPDIRATFAFTLGSAHTPGRPPRVTKDKGPSLRTLSRNLVKNAKKTIGRQHVTRKKYNPPSWEHRGQPPPEDQEDEISVSEELEPSTLTPSSALKPSDRMTMSSLVERACCRDYQRLGLGTLSSSLSRAKSEPFRISPVNRMYAICRSYPGLLIVPQSVQDNALQRVSRCYRQNRFPVVCWRSGRSKAVLLRSGGLHGKGVVGLFKAQNAPSPGQSQADSSSLEQEKYLQAVVSSMPRYADASGRNTLSGFSSAHMGSHGKWGSVRTSGRSSGLGTDVGSRLAGRDALAPPQANGGPPDPGFLRPQRAALYILGDKAQLKGVRSDPLQQWELVPIEVFEARQVKASFKKLLKACVPGCPAAEPSPASFLRSLEDSEWLIQIHKLLQVSVLVVELLDSGSSVLVGLEDGWDITTQVVSLVQLLSDPFYRTLEGFRLLVEKEWLSFGHRFSHRGAHTLAGQSSGFTPVFLQFLDCVHQVHLQFPMEFEFSQFYLKFLGYHHVSRRFRTFLLDSDYERIELGLLYEEKGERRGQVPCRSVWEYVDRLSKRTPVFHNYMYAPEDAEVLRPYSNVSNLKVWDFYTEETLAEGPPYDWELAQGPPEPPEEERSDGGAPQSRRRVVWPCYDSCPRAQPDAISRLLEELQRLETELGQPAERWKDTWDRVKAAQRLEGRPDGRGTPSSLLVSTAPHHRRSLGVYLQEGPVGSTLSLSLDSDQSSGSTTSGSRQAARRSTSTLYSQFQTAESENRSYEGTLYKKGAFMKPWKARWFVLDKTKHQLRYYDHRVDTECKGVIDLAEVEAVAPGTPTMGAPKTVDEKAFFDVKTTRRVYNFCAQDVPSAQQWVDRIQSCLSDA", "length": 1867, "header": "tr|A0A8J8YTQ8-1|MTMR5_HUMAN Computationally mapped isoform of Myotubularin-related protein 5 OS=Homo sapiens OX=9606 GN=SBF1 PE=1 SV=1 CANONICAL=O95248-1" }, "locus": { "chromosome": "22", "start_pos": 50474840, "end_pos": 50447145, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000348911.11", "url": "https://www.ensembl.org/id/ENST00000348911.11" }, { "database": "Ensembl Peptide", "id": "ENSP00000252027.8", "url": "https://www.ensembl.org/id/ENSP00000252027.8" } ] } }, { "isoform_ac": "H0Y5W8-1", "url": "", "sequence": { "sequence": "VVSLVQLLSDPFYRTLEGFRLLVEKEWLSFGHRFSHRGAHTLAGQSSGFTPVFLQFLDCVHQVHLQFPMEFEFSQFYLKFLGYHHVSRRFRTFLLDSDYERIELGLLYEEKGERRGQVPCRSVWEYVDRLSKRTPVFHNYMYAPEDAEVWDFYTEETLAEGPPYDWELAQGPPEPPEEERSDGGAPQSRRRVVWPCYDSCPRAQPDAISRLLEELQRLETELGQPAERWKDTWDRVKAAQRLEGRPDGRGTPSSLLVSTAPHHRRSLGVYLQEGPVGSTLSLSLDSDQSSGSTTSGSRQAARRSTSTLYSQFQTAESENRSYEGTLYKKGAFMKPWKARWFVLDKTKHQLRYYDHRVDTECKGVIDLAEVEAVAPGTPTMGAPKTVDEKAFFDVKTTRRVYNFCAQDVPSAQQWVDRIQSCLSDA", "length": 425, "header": "tr|H0Y5W8-1|H0Y5W8_HUMAN Computationally mapped isoform of SET binding factor 1 OS=Homo sapiens OX=9606 GN=SBF1 PE=1 SV=2 CANONICAL=O95248-1" }, "locus": { "chromosome": "22", "start_pos": 50455409, "end_pos": 50447145, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000418590.4", "url": "https://www.ensembl.org/id/ENST00000418590.4" }, { "database": "Ensembl Peptide", "id": "ENSP00000401538.2", "url": "https://www.ensembl.org/id/ENSP00000401538.2" } ] } }, { "isoform_ac": "O95248-1", "url": "", "sequence": { "sequence": "MARLADYFVLVAFGPHPRGSGEGQGQILQRFPEKDWEDNPFPQGIELFCQPSGWQLCPERNPPTFFVAVLTDINSERHYCACLTFWEPAEPSQQETTRVEDATEREEEGDEGGQTHLSPTAPAPSAQLFAPKTLVLVSRLDHTEVFRNSLGLIYAIHVEGLNVCLENVIGNLLTCTVPLAGGSQRTISLGAGDRQVIQTPLADSLPVSRCSVALLFRQLGITNVLSLFCAALTEHKVLFLSRSYQRLADACRGLLALLFPLRYSFTYVPILPAQLLEVLSTPTPFIIGVNAAFQAETQELLDVIVADLDGGTVTIPECVHIPPLPEPLQSQTHSVLSMVLDPELELADLAFPPPTTSTSSLKMQDKELRAVFLRLFAQLLQGYRWCLHVVRIHPEPVIRFHKAAFLGQRGLVEDDFLMKVLEGMAFAGFVSERGVPYRPTDLFDELVAHEVARMRADENHPQRVLRHVQELAEQLYKNENPYPAVAMHKVQRPGESSHLRRVPRPFPRLDEGTVQWIVDQAAAKMQGAPPAVKAERRTTVPSGPPMTAILERCSGLHVNSARRLEVVRNCISYVFEGKMLEAKKLLPAVLRALKGRAARRCLAQELHLHVQQNRAVLDHQQFDFVVRMMNCCLQDCTSLDEHGIAAALLPLVTAFCRKLSPGVTQFAYSCVQEHVVWSTPQFWEAMFYGDVQTHIRALYLEPTEDLAPAQEVGEAPSQEDERSALDVASEQRRLWPTLSREKQQELVQKEESTVFSQAIHYANRMSYLLLPLDSSKSRLLRERAGLGDLESASNSLVTNSMAGSVAESYDTESGFEDAETCDVAGAVVRFINRFVDKVCTESGVTSDHLKGLHVMVPDIVQMHIETLEAVQRESRRLPPIQKPKLLRPRLLPGEECVLDGLRVYLLPDGREEGAGGSAGGPALLPAEGAVFLTTYRVIFTGMPTDPLVGEQVVVRSFPVAALTKEKRISVQTPVDQLLQDGLQLRSCTFQLLKMAFDEEVGSDSAELFRKQLHKLRYPPDIRATFAFTLGSAHTPGRPPRVTKDKGPSLRTLSRNLVKNAKKTIGRQHVTRKKYNPPSWEHRGQPPPEDQEDEISVSEELEPSTLTPSSALKPSDRMTMSSLVERACCRDYQRLGLGTLSSSLSRAKSEPFRISPVNRMYAICRSYPGLLIVPQSVQDNALQRVSRCYRQNRFPVVCWRSGRSKAVLLRSGGLHGKGVVGLFKAQNAPSPGQSQADSSSLEQEKYLQAVVSSMPRYADASGRNTLSGFSSAHMGSHGKWGSVRTSGRSSGLGTDVGSRLAGRDALAPPQANGGPPDPGFLRPQRAALYILGDKAQLKGVRSDPLQQWELVPIEVFEARQVKASFKKLLKACVPGCPAAEPSPASFLRSLEDSEWLIQIHKLLQVSVLVVELLDSGSSVLVGLEDGWDITTQVVSLVQLLSDPFYRTLEGFRLLVEKEWLSFGHRFSHRGAHTLAGQSSGFTPVFLQFLDCVHQVHLQFPMEFEFSQFYLKFLGYHHVSRRFRTFLLDSDYERIELGLLYEEKGERRGQVPCRSVWEYVDRLSKRTPVFHNYMYAPEDAEVLRPYSNVSNLKVWDFYTEETLAEGPPYDWELAQGPPEPPEEERSDGGAPQSRRRVVWPCYDSCPRAQPDAISRLLEELQRLETELGQPAERWKDTWDRVKAAQRLEGRPDGRGTPSSLLVSTAPHHRRSLGVYLQEGPVGSTLSLSLDSDQSSGSTTSGSRQAARRSTSTLYSQFQTAESENRSYEGTLYKKGAFMKPWKARWFVLDKTKHQLRYYDHRVDTECKGVIDLAEVEAVAPGTPTMGAPKTVDEKAFFDVKTTRRVYNFCAQDVPSAQQWVDRIQSCLSDA", "length": 1868, "header": "sp|O95248-1|MTMR5_HUMAN Isoform 1 of Myotubularin-related protein 5 OS=Homo sapiens OX=9606 GN=SBF1 PE=1 SV=4 CANONICAL=O95248-1" }, "locus": { "chromosome": "22", "start_pos": 50474840, "end_pos": 50447145, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000689129.1", "url": "https://www.ensembl.org/id/ENST00000689129.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000510414.1", "url": "https://www.ensembl.org/id/ENSP00000510414.1" } ] } }, { "isoform_ac": "O95248-4", "url": "", "sequence": { "sequence": "MARLADYFVLVAFGPHPRGSGEGQGQILQRFPEKDWEDNPFPQGIELFCQPSGWQLCPERNPPTFFVAVLTDINSERHYCACLTFWEPAEPSQQETTRVEDATEREEEGDEGGQTHLSPTAPAPSAQLFAPKTLVLVSRLDHTEVFRNSLGLIYAIHVEGLNVCLENVIGNLLTCTVPLAGGSQRTISLGAGDRQVIQTPLADSLPVSRCSVALLFRQLGITNVLSLFCAALTEHKVLFLSRSYQRLADACRGLLALLFPLRYSFTYVPILPAQLLEVLSTPTPFIIGVNAAFQAETQELLDVIVADLDGGTVTIPECVHIPPLPEPLQSQTHSVLSMVLDPELELADLAFPPPTTSTSSLKMQDKELRAVFLRLFAQLLQGYRWCLHVVRIHPEPVIRFHKAAFLGQRGLVEDDFLMKVLEGMAFAGFVSERGVPYRPTDLFDELVAHEVARMRADENHPQRVLRHVQELAEQLYKNENPYPAVAMHKVQRPGESSHLRRVPRPFPRLDEGTVQWIVDQAAAKMQGAPPAVKAERRTTVPSGPPMTAILERCSGLHVNSARRLEVVRNCISYVFEGKMLEAKKLLPAVLRALKGRAARRCLAQELHLHVQQNRAVLDHQQFDFVVRMMNCCLQDCTSLDEHGIAAALLPLVTAFCRKLSPGVTQFAYSCVQEHVVWSTPQFWEAMFYGDVQTHIRALYLEPTEDLAPAQEVGEAPSQEDERSALDVASEQRRLWPTLSREKQQELVQKEESTVFSQAIHYANRMSYLLLPLDSSKSRLLRERAGLGDLESASNSLVTNSMAGSVAESYDTESGFEDAETCDVAGAVVRFINRFVDKVCTESGVTSDHLKGLHVMVPDIVQMHIETLEAVQRESRRLPPIQKPKLLRPRLLPGEECVLDGLRVYLLPDGREEGAGGSAGGPALLPAEGAVFLTTYRVIFTGMPTDPLVGEQVVVRSFPVAALTKEKRISVQTPVDQLLQDGLQLRSCTFQLLKMAFDEEVGSDSAELFRKQLHKLRYPPDIRATFAFTLGSAHTPGRPPRVTKDKGPSLRTLSRNLVKNAKKTIGRQHVTRKKYNPPSWEHRGQPPPEDQEDEISVSEELEPSTLTPSSALKPSDRMTMSSLVERACCRDYQRLGLGTLSSSLSRAKSEPFRISPVNRMYAICRSYPGLLIVPQSVQDNALQRVSRCYRQNRFPVVCWRSGRSKAVLLRSGGLHGKGVVGLFKAQNAPSPGQSQADSSSLEQEKYLQAVVSSMPRYADASGRNTLSGFSSAHMGSHVPSPRARVTTLSNPMAASASRRTAPRGKWGSVRTSGRSSGLGTDVGSRLAGRDALAPPQANGGPPDPGFLRPQRAALYILGDKAQLKGVRSDPLQQWELVPIEVFEARQVKASFKKLLKACVPGCPAAEPSPASFLRSLEDSEWLIQIHKLLQVSVLVVELLDSGSSVLVGLEDGWDITTQVVSLVQLLSDPFYRTLEGFRLLVEKEWLSFGHRFSHRGAHTLAGQSSGFTPVFLQFLDCVHQVHLQFPMEFEFSQFYLKFLGYHHVSRRFRTFLLDSDYERIELGLLYEEKGERRGQVPCRSVWEYVDRLSKRTPVFHNYMYAPEDAEVLRPYSNVSNLKVWDFYTEETLAEGPPYDWELAQGPPEPPEEERSDGGAPQSRRRVVWPCYDSCPRAQPDAISRLLEELQRLETELGQPAERWKDTWDRVKAAQRLEGRPDGRGTPSSLLVSTAPHHRRSLGVYLQEGPVGSTLSLSLDSDQSSGSTTSGSRQAARRSTSTLYSQFQTAESENRSYEGTLYKKGAFMKPWKARWFVLDKTKHQLRYYDHRVDTECKGVIDLAEVEAVAPGTPTMGAPKTVDEKAFFDVKTTRRVYNFCAQDVPSAQQWVDRIQSCLSDA", "length": 1894, "header": "sp|O95248-4|MTMR5_HUMAN Isoform 4 of Myotubularin-related protein 5 OS=Homo sapiens OX=9606 GN=SBF1 PE=1 SV=4 CANONICAL=O95248-1" }, "locus": { "chromosome": "22", "start_pos": 50474840, "end_pos": 50447145, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000684986.1", "url": "https://www.ensembl.org/id/ENST00000684986.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000509117.1", "url": "https://www.ensembl.org/id/ENSP00000509117.1" } ] } }, { "isoform_ac": "O95248-5", "url": "", "sequence": { "sequence": "MARLADYFVLVAFGPHPRGSGEGQGQILQRFPEKDWEDNPFPQGIELFCQPSGWQLCPERNPPTFFVAVLTDINSERHYCACLTFWEPAEPSQETTRVEDATEREEEGDEGGQTHLSPTAPAPSAQLFAPKTLVLVSRLDHTEVFRNSLGLIYAIHVEGLNVCLENVIGNLLTCTVPLAGGSQRTISLGAGDRQVIQTPLADSLPVSRCSVALLFRQLGITNVLSLFCAALTEHKVLFLSRSYQRLADACRGLLALLFPLRYSFTYVPILPAQLLEVLSTPTPFIIGVNAAFQAETQELLDVIVADLDGGTVTIPECVHIPPLPEPLQSQTHSVLSMVLDPELELADLAFPPPTTSTSSLKMQDKELRAVFLRLFAQLLQGYRWCLHVVRIHPEPVIRFHKAAFLGQRGLVEDDFLMKVLEGMAFAGFVSERGVPYRPTDLFDELVAHEVARMRADENHPQRVLRHVQELAEQLYKNENPYPAVAMHKVQRPGESSHLRRVPRPFPRLDEGTVQWIVDQAAAKMQGAPPAVKAERRTTVPSGPPMTAILERCSGLHVNSARRLEVVRNCISYVFEGKMLEAKKLLPAVLRALKGRAARRCLAQELHLHVQQNRAVLDHQQFDFVVRMMNCCLQDCTSLDEHGIAAALLPLVTAFCRKLSPGVTQFAYSCVQEHVVWSTPQFWEAMFYGDVQTHIRALYLEPTEDLAPAQEVGEAPSQEDERSALDVASEQRRLWPTLSREKQQELVQKEESTVFSQAIHYANRMSYLLLPLDSSKSRLLRERAGLGDLESASNSLVTNSMAGSVAESYDTESGFEDAETCDVAGAVVRFINRFVDKVCTESGVTSDHLKGLHVMVPDIVQMHIETLEAVQRESRRLPPIQKPKLLRPRLLPGEECVLDGLRVYLLPDGREEGAGGSAGGPALLPAEGAVFLTTYRVIFTGMPTDPLVGEQVVVRSFPVAALTKEKRISVQTPVDQLLQDGLQLRSCTFQLLKMAFDEEVGSDSAELFRKQLHKLRYPPDIRATFAFTLGSAHTPGRPPRVTKDKGPSLRTLSRNLVKNAKKTIGRQHVTRKKYNPPSWEHRGQPPPEDQEDEISVSEELEPSTLTPSSALKPSDRMTMSSLVERACCRDYQRLGLGTLSSSLSRAKSEPFRISPVNRMYAICRSYPGLLIVPQSVQDNALQRVSRCYRQNRFPVVCWRSGRSKAVLLRSGGLHGKGVVGLFKAQNAPSPGQSQADSSSLEQEKYLQAVVSSMPRYADASGRNTLSGFSSAHMGSHVPSPRARVTTLSNPMAASASRRTAPRGKWGSVRTSGRSSGLGTDVGSRLAGRDALAPPQANGGPPDPGFLRPQRAALYILGDKAQLKGVRSDPLQQWELVPIEVFEARQVKASFKKLLKACVPGCPAAEPSPASFLRSLEDSEWLIQIHKLLQVSVLVVELLDSGSSVLVGLEDGWDITTQVVSLVQLLSDPFYRTLEGFRLLVEKEWLSFGHRFSHRGAHTLAGQSSGFTPVFLQFLDCVHQVHLQFPMEFEFSQFYLKFLGYHHVSRRFRTFLLDSDYERIELGLLYEEKGERRGQVPCRSVWEYVDRLSKRTPVFHNYMYAPEDAEVLRPYSNVSNLKVWDFYTEETLAEGPPYDWELAQGPPEPPEEERSDGGAPQSRRRVVWPCYDSCPRAQPDAISRLLEELQRLETELGQPAERWKDTWDRVKAAQRLEGRPDGRGTPSSLLVSTAPHHRRSLGVYLQEGPVGSTLSLSLDSDQSSGSTTSGSRQAARRSTSTLYSQFQTAESENRSYEGTLYKKGAFMKPWKARWFVLDKTKHQLRYYDHRVDTECKGVIDLAEVEAVAPGTPTMGAPKTVDEKAFFDVKTTRRVYNFCAQDVPSAQQWVDRIQSCLSDA", "length": 1893, "header": "sp|O95248-5|MTMR5_HUMAN Isoform 5 of Myotubularin-related protein 5 OS=Homo sapiens OX=9606 GN=SBF1 PE=1 SV=4 CANONICAL=O95248-1" }, "locus": { "chromosome": "22", "start_pos": 50474840, "end_pos": 50447145, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000380817.8", "url": "https://www.ensembl.org/id/ENST00000380817.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000370196.2", "url": "https://www.ensembl.org/id/ENSP00000370196.2" } ] } } ], "glycosylation": [], "phosphorylation": [ { "start_pos": 1121, "end_pos": 1121, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O95248", "url": "https://www.uniprot.org/uniprot/O95248" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "O95248", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95248" } ], "site_lbl": "Ser1121" }, { "start_pos": 1138, "end_pos": 1138, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "O95248", "url": "https://www.uniprot.org/uniprot/O95248" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "O95248", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95248" } ], "site_lbl": "Thr1138" }, { "start_pos": 1747, "end_pos": 1747, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O95248", "url": "https://www.uniprot.org/uniprot/O95248" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "O95248", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95248" } ], "site_lbl": "Ser1747" } ], "glycation": [], "keywords": [], "publication": [ { "title": "Functional expression and characterisation of a new human phosphatidylinositol 4-kinase PI4K230.", "journal": "Biochimica et biophysica acta", "date": "1999", "authors": "Gehrmann T, Gulkan H, Suer S, Herberg FW, Balla A, Vereb G, Mayr GW, Heilmeyer LM Jr", "evidence": [ { "database": "Reactome", "id": "R-HSA-1483248", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1483248" } ], "reference": [ { "type": "PubMed", "id": "10101268", "url": "https://glygen.org/publication/PubMed/10101268" } ] }, { "title": "A novel membrane-anchored Rab5 interacting protein required for homotypic endosome fusion.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Hoffenberg S, Liu X, Nikolova L, Hall HS, Dai W, Baughn RE, Dickey BF, Barbieri MA, Aballay A, Stahl PD, Knoll BJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-8876198", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8876198" } ], "reference": [ { "type": "PubMed", "id": "10818110", "url": "https://glygen.org/publication/PubMed/10818110" } ] }, { "title": "Set domain-dependent regulation of transcriptional silencing and growth control by SUV39H1, a mammalian ortholog of Drosophila Su(var)3-9.", "journal": "Mol. Cell. Biol.", "date": "2000", "authors": "Firestein R, Cui X, Huie P, Cleary M L", "evidence": [ { "database": "UniProtKB", "id": "O95248", "url": "https://www.uniprot.org/uniprot/O95248" } ], "reference": [ { "type": "PubMed", "id": "10848615", "url": "https://glygen.org/publication/PubMed/10848615" } ] }, { "title": "Ric1p and Rgp1p form a complex that catalyses nucleotide exchange on Ypt6p.", "journal": "The EMBO journal", "date": "2000", "authors": "Siniossoglou S, Peak-Chew SY, Pelham HR", "evidence": [ { "database": "Reactome", "id": "R-HSA-8876198", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8876198" } ], "reference": [ { "type": "PubMed", "id": "10990452", "url": "https://glygen.org/publication/PubMed/10990452" } ] }, { "title": "TRAPP stimulates guanine nucleotide exchange on Ypt1p.", "journal": "The Journal of cell biology", "date": "2000", "authors": "Wang W, Sacher M, Ferro-Novick S", "evidence": [ { "database": "Reactome", "id": "R-HSA-8876198", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8876198" } ], "reference": [ { "type": "PubMed", "id": "11038176", "url": "https://glygen.org/publication/PubMed/11038176" } ] }, { "title": "Rab-interacting lysosomal protein (RILP): the Rab7 effector required for transport to lysosomes.", "journal": "The EMBO journal", "date": "2001", "authors": "Cantalupo G, Alifano P, Roberti V, Bruni CB, Bucci C", "evidence": [ { "database": "Reactome", "id": "R-HSA-8876198", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8876198" } ], "reference": [ { "type": "PubMed", "id": "11179213", "url": "https://glygen.org/publication/PubMed/11179213" } ] }, { "title": "GRAB: a physiologic guanine nucleotide exchange factor for Rab3A, which interacts with inositol hexakisphosphate kinase.", "journal": "Neuron", "date": "2001", "authors": "Luo HR, Saiardi A, Nagata E, Ye K, Yu H, Jung TS, Luo X, Jain S, Sawa A, Snyder SH", "evidence": [ { "database": "Reactome", "id": "R-HSA-8876198", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8876198" } ], "reference": [ { "type": "PubMed", "id": "11516400", "url": "https://glygen.org/publication/PubMed/11516400" } ] }, { "title": "An effector of Ypt6p binds the SNARE Tlg1p and mediates selective fusion of vesicles with late Golgi membranes.", "journal": "The EMBO journal", "date": "2001", "authors": "Siniossoglou S, Pelham HR", "evidence": [ { "database": "Reactome", "id": "R-HSA-8876198", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8876198" } ], "reference": [ { "type": "PubMed", "id": "11689439", "url": "https://glygen.org/publication/PubMed/11689439" } ] }, { "title": "Ras-activated endocytosis is mediated by the Rab5 guanine nucleotide exchange activity of RIN1.", "journal": "Developmental cell", "date": "2001", "authors": "Tall GG, Barbieri MA, Stahl PD, Horazdovsky BF", "evidence": [ { "database": "Reactome", "id": "R-HSA-8876198", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8876198" } ], "reference": [ { "type": "PubMed", "id": "11703925", "url": "https://glygen.org/publication/PubMed/11703925" } ] }, { "title": "Role of rRAB22b, an oligodendrocyte protein, in regulation of transport of vesicles from trans Golgi to endocytic compartments.", "journal": "Journal of neuroscience research", "date": "2001", "authors": "Rodriguez-Gabin AG, Cammer M, Almazan G, Charron M, Larocca JN", "evidence": [ { "database": "Reactome", "id": "R-HSA-8876198", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8876198" } ], "reference": [ { "type": "PubMed", "id": "11746448", "url": "https://glygen.org/publication/PubMed/11746448" } ] }, { "title": "Molecular cloning, bacterial expression and properties of Rab31 and Rab32.", "journal": "European journal of biochemistry", "date": "2002", "authors": "Bao X, Faris AE, Jang EK, Haslam RJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-8876198", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8876198" } ], "reference": [ { "type": "PubMed", "id": "11784320", "url": "https://glygen.org/publication/PubMed/11784320" } ] }, { "title": "Mutation of melanosome protein RAB38 in chocolate mice.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2002", "authors": "Loftus SK, Larson DM, Baxter LL, Antonellis A, Chen Y, Wu X, Jiang Y, Bittner M, Hammer JA 3rd, Pavan WJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-8876198", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8876198" } ], "reference": [ { "type": "PubMed", "id": "11917121", "url": "https://glygen.org/publication/PubMed/11917121" } ] }, { "title": "The small GTPase Rab13 regulates assembly of functional tight junctions in epithelial cells.", "journal": "Molecular biology of the cell", "date": "2002", "authors": "Marzesco AM, Dunia I, Pandjaitan R, Recouvreur M, Dauzonne D, Benedetti EL, Louvard D, Zahraoui A", "evidence": [ { "database": "Reactome", "id": "R-HSA-8876198", "url": 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define the Shiga toxin and epidermal growth factor uptake pathways.", "journal": "The Journal of cell biology", "date": "2007", "authors": "Fuchs E, Haas AK, Spooner RA, Yoshimura S, Lord JM, Barr FA", "evidence": [ { "database": "Reactome", "id": "R-HSA-8876198", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8876198" } ], "reference": [ { "type": "PubMed", "id": "17562788", "url": "https://glygen.org/publication/PubMed/17562788" } ] }, { "title": "A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis.", "journal": "Cell", "date": "2007", "authors": "Nachury MV, Loktev AV, Zhang Q, Westlake CJ, Peranen J, Merdes A, Slusarski DC, Scheller RH, Bazan JF, Sheffield VC, Jackson PK", "evidence": [ { "database": "Reactome", "id": "R-HSA-8876198", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8876198" } ], "reference": [ { "type": "PubMed", "id": "17574030", "url": "https://glygen.org/publication/PubMed/17574030" } ] }, { "title": "Functional dissection of Rab GTPases involved in primary cilium formation.", "journal": "The Journal of cell biology", "date": "2007", "authors": "Yoshimura S, Egerer J, Fuchs E, Haas AK, Barr FA", "evidence": [ { "database": "Reactome", "id": "R-HSA-8876198", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8876198" } ], "reference": [ { "type": "PubMed", "id": "17646400", "url": "https://glygen.org/publication/PubMed/17646400" } ] }, { "title": "Melanosome maturation defect in Rab38-deficient retinal pigment epithelium results in instability of immature melanosomes during transient melanogenesis.", "journal": "Molecular biology of the cell", "date": "2007", "authors": "Lopes VS, Wasmeier C, Seabra MC, Futter CE", "evidence": [ { "database": "Reactome", "id": "R-HSA-8876198", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8876198" } ], "reference": [ { "type": "PubMed", "id": "17671165", "url": "https://glygen.org/publication/PubMed/17671165" } ] }, { "title": "Rab22B's role in trans-Golgi network membrane dynamics.", "journal": "Biochemical and biophysical research communications", "date": "2007", "authors": "Ng EL, Wang Y, Tang BL", "evidence": [ { "database": "Reactome", "id": "R-HSA-8876198", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8876198" } ], "reference": [ { "type": "PubMed", "id": "17678623", "url": "https://glygen.org/publication/PubMed/17678623" } ] }, { "title": "Rab10 in insulin-stimulated GLUT4 translocation.", "journal": "The Biochemical journal", "date": "2008", "authors": "Sano H, Roach WG, Peck GR, Fukuda M, Lienhard GE", "evidence": [ { "database": "Reactome", "id": "R-HSA-8876198", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8876198" } ], "reference": [ { "type": "PubMed", "id": "18076383", "url": "https://glygen.org/publication/PubMed/18076383" } ] }, { "title": "The interaction of JRAB/MICAL-L2 with Rab8 and Rab13 coordinates the assembly of tight junctions and adherens junctions.", "journal": "Molecular biology of the cell", "date": "2008", "authors": "Yamamura R, Nishimura N, Nakatsuji H, Arase S, Sasaki T", "evidence": [ { "database": "Reactome", "id": "R-HSA-8876198", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8876198" } ], "reference": [ { "type": "PubMed", "id": "18094055", "url": "https://glygen.org/publication/PubMed/18094055" } ] }, { "title": "Regulation of endocytic recycling by C. elegans Rab35 and its regulator RME-4, a coated-pit protein.", "journal": "The EMBO journal", "date": "2008", "authors": "Sato M, Sato K, Liou W, Pant S, Harada A, Grant BD", "evidence": [ { "database": "Reactome", "id": "R-HSA-8876198", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8876198" } ], "reference": [ { "type": "PubMed", "id": "18354496", "url": "https://glygen.org/publication/PubMed/18354496" } ] }, { "title": "Requirement of the human GARP complex for mannose 6-phosphate-receptor-dependent sorting of cathepsin D to lysosomes.", "journal": "Molecular biology of the cell", "date": "2008", "authors": "Perez-Victoria FJ, Mardones GA, Bonifacino JS", "evidence": [ { "database": "Reactome", "id": "R-HSA-8876198", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8876198" } ], "reference": [ { "type": "PubMed", "id": "18367545", "url": "https://glygen.org/publication/PubMed/18367545" } ] }, { "title": "A small GTP-binding protein dissociates from synaptic vesicles during exocytosis.", "journal": "Nature", "date": "1991", "authors": "Fischer von Mollard G, Sudhof TC, Jahn R", "evidence": [ { "database": "Reactome", "id": "R-HSA-8876198", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8876198" } ], "reference": [ { "type": "PubMed", "id": "1845915", "url": "https://glygen.org/publication/PubMed/1845915" } ] }, { "title": "Varp interacts with Rab38 and functions as its potential effector.", "journal": "Biochemical and biophysical research communications", "date": "2008", "authors": "Wang F, Zhang H, Zhang X, Wang Y, Ren F, Zhang X, Zhai Y, Chang Z", "evidence": [ { "database": "Reactome", "id": "R-HSA-8876198", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8876198" } ], "reference": [ { "type": "PubMed", "id": "18477474", "url": "https://glygen.org/publication/PubMed/18477474" } ] }, { "title": "Rab3GEP is the non-redundant guanine nucleotide exchange factor for Rab27a in melanocytes.", "journal": "The Journal of biological chemistry", "date": "2008", "authors": "Figueiredo AC, Wasmeier C, Tarafder AK, Ramalho JS, Baron RA, Seabra MC", "evidence": [ { "database": "Reactome", "id": "R-HSA-8876198", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8876198" } ], "reference": [ { "type": "PubMed", "id": "18559336", "url": "https://glygen.org/publication/PubMed/18559336" } ] }, { "title": "The structural basis for activation of the Rab Ypt1p by the TRAPP membrane-tethering complexes.", "journal": "Cell", "date": "2008", "authors": "Cai Y, Chin HF, Lazarova D, Menon S, Fu C, Cai H, Sclafani A, Rodgers DW, De La Cruz EM, Ferro-Novick S, Reinisch KM", "evidence": [ { "database": "Reactome", "id": "R-HSA-8876198", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8876198" } ], "reference": [ { "type": "PubMed", "id": "18585354", "url": "https://glygen.org/publication/PubMed/18585354" } ] }, { "title": "Rab18 and Rab43 have key roles in ER-Golgi trafficking.", "journal": "Journal of cell science", "date": "2008", "authors": "Dejgaard SY, Murshid A, Erman A, Kizilay O, Verbich D, Lodge R, Dejgaard K, Ly-Hartig TB, Pepperkok R, Simpson JC, Presley JF", "evidence": [ { "database": "Reactome", "id": "R-HSA-8876198", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8876198" } ], "reference": [ { "type": "PubMed", "id": "18664496", "url": "https://glygen.org/publication/PubMed/18664496" } ] }, { "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": "O95248", "url": "https://www.uniprot.org/uniprot/O95248" }, { "database": "iPTMnet", "id": "O95248", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95248" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Muscle cells engage Rab8A and myosin Vb in insulin-dependent GLUT4 translocation.", "journal": "American journal of physiology. Cell physiology", "date": "2008", "authors": "Ishikura S, Klip A", "evidence": [ { "database": "Reactome", "id": "R-HSA-8876198", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8876198" } ], "reference": [ { "type": "PubMed", "id": "18701652", "url": "https://glygen.org/publication/PubMed/18701652" } ] }, { "title": "Rab13 regulates membrane trafficking between TGN and recycling endosomes in polarized epithelial cells.", "journal": "The Journal of cell biology", "date": "2008", "authors": "Nokes RL, Fields IC, Collins RN, Folsch H", "evidence": [ { "database": "Reactome", "id": "R-HSA-8876198", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8876198" } ], "reference": [ { "type": "PubMed", "id": "18779367", "url": "https://glygen.org/publication/PubMed/18779367" } ] }, { "title": "Integrin trafficking regulated by Rab21 is necessary for cytokinesis.", "journal": "Developmental cell", "date": "2008", "authors": "Pellinen T, Tuomi S, Arjonen A, Wolf M, Edgren H, Meyer H, Grosse R, Kitzing T, Rantala JK, Kallioniemi O, Fassler R, Kallio M, Ivaska J", "evidence": [ { "database": "Reactome", "id": "R-HSA-8876198", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8876198" } ], "reference": [ { "type": "PubMed", "id": "18804435", "url": "https://glygen.org/publication/PubMed/18804435" } ] }, { "title": "rab5 controls early endosome fusion in vitro.", "journal": "Cell", "date": "1991", "authors": "Gorvel JP, Chavrier P, Zerial M, Gruenberg J", "evidence": [ { "database": "Reactome", "id": "R-HSA-8876198", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8876198" } ], "reference": [ { "type": "PubMed", "id": "1900457", "url": "https://glygen.org/publication/PubMed/1900457" } ] }, { "title": "Tracing the retrograde route in protein trafficking.", "journal": "Cell", "date": "2008", "authors": "Johannes L, Popoff V", "evidence": [ { "database": "Reactome", "id": "R-HSA-8876198", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8876198" } ], "reference": [ { "type": "PubMed", "id": "19109890", "url": "https://glygen.org/publication/PubMed/19109890" } ] }, { "title": "Transport of mannose-6-phosphate receptors from the trans-Golgi network to endosomes requires Rab31.", "journal": "Experimental cell research", "date": "2009", "authors": "Rodriguez-Gabin AG, Yin X, Si Q, Larocca JN", "evidence": [ { "database": "Reactome", "id": "R-HSA-8876198", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8876198" } ], "reference": [ { "type": "PubMed", "id": "19345684", "url": "https://glygen.org/publication/PubMed/19345684" } ] }, { "title": "Varp is a novel Rab32/38-binding protein that regulates Tyrp1 trafficking in melanocytes.", "journal": "Molecular biology of the cell", "date": "2009", "authors": "Tamura K, Ohbayashi N, Maruta Y, Kanno E, Itoh T, Fukuda M", "evidence": [ { "database": "Reactome", "id": "R-HSA-8876198", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8876198" } ], "reference": [ { "type": "PubMed", "id": "19403694", "url": "https://glygen.org/publication/PubMed/19403694" } ] }, { "title": "RhoBTB3: a Rho GTPase-family ATPase required for endosome to Golgi transport.", "journal": "Cell", "date": "2009", "authors": "Espinosa EJ, Calero M, Sridevi K, Pfeffer SR", "evidence": [ { "database": "Reactome", "id": "R-HSA-8876198", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8876198" } ], "reference": [ { "type": "PubMed", "id": "19490898", "url": "https://glygen.org/publication/PubMed/19490898" } ] }, { "title": "Dual roles of the mammalian GARP complex in tethering and SNARE complex assembly at the trans-golgi network.", "journal": "Molecular and cellular biology", "date": "2009", "authors": "Perez-Victoria FJ, Bonifacino JS", "evidence": [ { "database": "Reactome", "id": "R-HSA-8876198", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8876198" } ], "reference": [ { "type": "PubMed", "id": "19620288", "url": "https://glygen.org/publication/PubMed/19620288" } ] }, { "title": "mTrs130 is a component of a mammalian TRAPPII complex, a Rab1 GEF that binds to COPI-coated vesicles.", "journal": "Molecular biology of the cell", "date": "2009", "authors": "Yamasaki A, Menon S, Yu S, Barrowman J, Meerloo T, Oorschot V, Klumperman J, Satoh A, Ferro-Novick S", "evidence": [ { "database": "Reactome", "id": "R-HSA-8876198", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8876198" } ], "reference": [ { "type": "PubMed", "id": "19656848", "url": "https://glygen.org/publication/PubMed/19656848" } ] }, { "title": "Rab22B is expressed in the CNS astroglia lineage and plays a role in epidermal growth factor receptor trafficking in A431 cells.", "journal": "Journal of cellular physiology", "date": "2009", "authors": "Ng EL, Ng JJ, Liang F, Tang BL", "evidence": [ { "database": "Reactome", "id": "R-HSA-8876198", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8876198" } ], "reference": [ { "type": "PubMed", "id": "19725050", "url": "https://glygen.org/publication/PubMed/19725050" } ] }, { "title": "Rab35 controls actin bundling by recruiting fascin as an effector protein.", "journal": "Science (New York, N.Y.)", "date": "2009", "authors": "Zhang J, Fonovic M, Suyama K, Bogyo M, Scott MP", "evidence": [ { "database": "Reactome", "id": "R-HSA-8876198", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8876198" } ], "reference": [ { "type": "PubMed", "id": "19729655", "url": "https://glygen.org/publication/PubMed/19729655" } ] }, { "title": "Role of Varp, a Rab21 exchange factor and TI-VAMP/VAMP7 partner, in neurite growth.", "journal": "EMBO reports", "date": "2009", "authors": "Burgo A, Sotirakis E, Simmler MC, Verraes A, Chamot C, Simpson JC, Lanzetti L, Proux-Gillardeaux V, Galli T", "evidence": [ { "database": "Reactome", "id": "R-HSA-8876198", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8876198" } ], "reference": [ { "type": "PubMed", "id": "19745841", "url": "https://glygen.org/publication/PubMed/19745841" } ] }, { "title": "Rab13 regulates neurite outgrowth in PC12 cells through its effector protein, JRAB/MICAL-L2.", "journal": "Molecular and cellular biology", "date": "2010", "authors": "Sakane A, Honda K, Sasaki T", "evidence": [ { "database": "Reactome", "id": "R-HSA-8876198", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8876198" } ], "reference": [ { "type": "PubMed", "id": "20008558", "url": "https://glygen.org/publication/PubMed/20008558" } ] }, { "title": "The connecdenn family, Rab35 guanine nucleotide exchange factors interfacing with the clathrin machinery.", "journal": "The Journal of biological chemistry", "date": "2010", "authors": "Marat AL, McPherson PS", "evidence": [ { "database": "Reactome", "id": "R-HSA-8876198", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8876198" } ], "reference": [ { "type": "PubMed", "id": "20154091", "url": "https://glygen.org/publication/PubMed/20154091" } ] }, { "title": "Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly.", "journal": "American journal of human genetics", "date": "2010", "authors": "Giannandrea M, Bianchi V, Mignogna ML, Sirri A, Carrabino S, D'Elia E, Vecellio M, Russo S, Cogliati F, Larizza L, Ropers HH, Tzschach A, Kalscheuer V, Oehl-Jaschkowitz B, Skinner C, Schwartz CE, Gecz J, Van Esch H, Raynaud M, Chelly J, de Brouwer AP, Toniolo D, D'Adamo P", "evidence": [ { "database": "Reactome", "id": "R-HSA-8876198", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8876198" } ], "reference": [ { "type": "PubMed", "id": "20159109", "url": "https://glygen.org/publication/PubMed/20159109" } ] }, { "title": "The Connecdenn DENN domain: a GEF for Rab35 mediating cargo-specific exit from early endosomes.", "journal": "Molecular cell", "date": "2010", "authors": "Allaire PD, Marat AL, Dall'Armi C, Di Paolo G, McPherson PS, Ritter B", "evidence": [ { "database": "Reactome", "id": "R-HSA-8876198", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8876198" } ], "reference": [ { "type": "PubMed", "id": "20159556", "url": "https://glygen.org/publication/PubMed/20159556" } ] }, { "title": "Identification of two evolutionarily conserved genes regulating processing of engulfed apoptotic cells.", "journal": "Nature", "date": "2010", "authors": "Kinchen JM, Ravichandran KS", "evidence": [ { "database": "Reactome", "id": "R-HSA-8876198", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8876198" } ], "reference": [ { "type": "PubMed", "id": "20305638", "url": "https://glygen.org/publication/PubMed/20305638" } ] }, { "title": "Coordination of Rab8 and Rab11 in primary ciliogenesis.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2010", "authors": "Knodler A, Feng S, Zhang J, Zhang X, Das A, Peranen J, Guo W", "evidence": [ { "database": "Reactome", "id": "R-HSA-8876198", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8876198" } ], "reference": [ { "type": "PubMed", "id": "20308558", "url": "https://glygen.org/publication/PubMed/20308558" } ] }, { "title": "Regulation of exosome secretion by Rab35 and its GTPase-activating proteins TBC1D10A-C.", "journal": "The Journal of cell biology", "date": "2010", "authors": "Hsu C, Morohashi Y, Yoshimura S, Manrique-Hoyos N, Jung S, Lauterbach MA, Bakhti M, Gronborg M, Mobius W, Rhee J, Barr FA, Simons M", "evidence": [ { "database": "Reactome", "id": "R-HSA-8876198", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8876198" } ], "reference": [ { "type": "PubMed", "id": "20404108", "url": "https://glygen.org/publication/PubMed/20404108" } ] }, { "title": "Identification of the switch in early-to-late endosome transition.", "journal": "Cell", "date": "2010", "authors": "Poteryaev D, Datta S, Ackema K, Zerial M, Spang A", "evidence": [ { "database": "Reactome", "id": "R-HSA-8876198", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8876198" } ], "reference": [ { "type": "PubMed", "id": "20434987", "url": "https://glygen.org/publication/PubMed/20434987" } ] }, { "title": "Junctional adhesion molecule-C is a soluble mediator of angiogenesis.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "2010", "authors": "Rabquer BJ, Amin MA, Teegala N, Shaheen MK, Tsou PS, Ruth JH, Lesch CA, Imhof BA, Koch AE", "evidence": [ { "database": "Reactome", "id": "R-HSA-8876198", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8876198" } ], "reference": [ { "type": "PubMed", "id": "20592283", "url": "https://glygen.org/publication/PubMed/20592283" } ] }, { "title": "The Mon1-Ccz1 complex is the GEF of the late endosomal Rab7 homolog Ypt7.", "journal": "Current biology : CB", "date": "2010", "authors": "Nordmann M, Cabrera M, Perz A, Brocker C, Ostrowicz C, Engelbrecht-Vandre S, Ungermann C", "evidence": [ { "database": "Reactome", "id": "R-HSA-8876198", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8876198" } ], "reference": [ { "type": "PubMed", "id": "20797862", "url": "https://glygen.org/publication/PubMed/20797862" } ] }, { "title": "Rab7: role of its protein interaction cascades in endo-lysosomal traffic.", "journal": "Cellular signalling", "date": "2011", "authors": "Wang T, Ming Z, Xiaochun W, Hong W", "evidence": [ { "database": "Reactome", "id": "R-HSA-8876198", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8876198" } ], "reference": [ { "type": "PubMed", "id": "20851765", "url": "https://glygen.org/publication/PubMed/20851765" } ] }, { "title": "Family-wide characterization of the DENN domain Rab GDP-GTP exchange factors.", "journal": "The Journal of cell biology", "date": "2010", "authors": "Yoshimura S, Gerondopoulos A, Linford A, Rigden DJ, Barr FA", "evidence": [ { "database": "UniProtKB", "id": "O95248", "url": "https://www.uniprot.org/uniprot/O95248" }, { "database": "Reactome", "id": "R-HSA-8876198", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8876198" } ], "reference": [ { "type": "PubMed", "id": "20937701", "url": "https://glygen.org/publication/PubMed/20937701" } ] }, { "title": "Rab8A and Rab13 are activated by insulin and regulate GLUT4 translocation in muscle cells.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2010", "authors": "Sun Y, Bilan PJ, Liu Z, Klip A", "evidence": [ { "database": "Reactome", "id": "R-HSA-8876198", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8876198" } ], "reference": [ { "type": "PubMed", "id": "21041651", "url": "https://glygen.org/publication/PubMed/21041651" } ] }, { "title": "Localization of low molecular weight GTP binding proteins to exocytic and endocytic compartments.", "journal": "Cell", "date": "1990", "authors": "Chavrier P, Parton RG, Hauri HP, Simons K, Zerial M", "evidence": [ { "database": "Reactome", "id": "R-HSA-8876198", "url": 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"https://www.reactome.org/PathwayBrowser/#R-HSA-8876198" } ], "reference": [ { "type": "PubMed", "id": "21187289", "url": "https://glygen.org/publication/PubMed/21187289" } ] }, { "title": "Signaling, cytoskeletal and membrane mechanisms regulating GLUT4 exocytosis.", "journal": "Trends in endocrinology and metabolism: TEM", "date": "2011", "authors": "Hoffman NJ, Elmendorf JS", "evidence": [ { "database": "Reactome", "id": "R-HSA-8876198", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8876198" } ], "reference": [ { "type": "PubMed", "id": "21216617", "url": "https://glygen.org/publication/PubMed/21216617" } ] }, { "title": "Primary cilia membrane assembly is initiated by Rab11 and transport protein particle II (TRAPPII) complex-dependent trafficking of Rabin8 to the centrosome.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2011", "authors": "Westlake CJ, Baye LM, Nachury MV, Wright KJ, Ervin KE, Phu L, Chalouni C, 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limits the sorting of Glut4 from endosomes into insulin-sensitive regulated secretory compartments in adipocytes.", "journal": "The Biochemical journal", "date": "2016", "authors": "Brewer PD, Habtemichael EN, Romenskaia I, Coster AC, Mastick CC", "evidence": [ { "database": "Reactome", "id": "R-HSA-8876198", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8876198" } ], "reference": [ { "type": "PubMed", "id": "26936971", "url": "https://glygen.org/publication/PubMed/26936971" } ] }, { "title": "Rab1 in cell signaling, cancer and other diseases.", "journal": "Oncogene", "date": "2016", "authors": "Yang XZ, Li XX, Zhang YJ, Rodriguez-Rodriguez L, Xiang MQ, Wang HY, Zheng XF", "evidence": [ { "database": "Reactome", "id": "R-HSA-8876198", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8876198" } ], "reference": [ { "type": "PubMed", "id": "27041585", "url": "https://glygen.org/publication/PubMed/27041585" } ] }, { "title": "Regulation of Cancer Cell Behavior by the Small GTPase Rab13.", "journal": "The Journal of biological chemistry", "date": "2016", "authors": "Ioannou MS, McPherson PS", "evidence": [ { "database": "Reactome", "id": "R-HSA-8876198", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8876198" } ], "reference": [ { "type": "PubMed", "id": "27044746", "url": "https://glygen.org/publication/PubMed/27044746" } ] }, { "title": "Multiple Roles of VARP in Endosomal Trafficking: Rabs, Retromer Components and R-SNARE VAMP7 Meet on VARP.", "journal": "Traffic (Copenhagen, Denmark)", "date": "2016", "authors": "Fukuda M", "evidence": [ { "database": "Reactome", "id": "R-HSA-8876198", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8876198" } ], "reference": [ { "type": "PubMed", "id": "27103185", "url": "https://glygen.org/publication/PubMed/27103185" } ] }, { "title": "Multiple Types of Guanine Nucleotide Exchange Factors (GEFs) for Rab Small GTPases.", "journal": "Cell structure and function", "date": "2016", "authors": "Ishida M, E 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M, Houlden H", "evidence": [ { "database": "RefSeq", "id": "NP_002963", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002963" } ], "reference": [ { "type": "PubMed", "id": "32444983", "url": "https://glygen.org/publication/PubMed/32444983" } ] }, { "title": "A (GCC) repeat in SBF1 reveals a novel biological phenomenon in human and links to late onset neurocognitive disorder.", "journal": "Scientific reports", "date": "2022", "authors": "Khamse S, Alizadeh S, Bernhart SH, Afshar H, Delbari A, Ohadi M", "evidence": [ { "database": "RefSeq", "id": "NP_002963", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002963" } ], "reference": [ { "type": "PubMed", "id": "36104480", "url": "https://glygen.org/publication/PubMed/36104480" } ] }, { "title": "Expression and localization of two low molecular weight GTP-binding proteins, Rab8 and Rab10, by epitope tag.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1993", "authors": "Chen YT, 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