{ "uniprot_canonical_ac": "B1AK53-1", "uniprot_ac": "B1AK53", "uniprot_id": "ESPN_HUMAN", "mass": { "chemical_mass": 91733.0, "monoisotopic_mass": 91733.0 }, "refseq": { "ac": "NP_113663", "name": "espin isoform 1", "summary": "This gene encodes a multifunctional actin-bundling protein. It plays a major role in regulating the organization, dimensions, dynamics, and signaling capacities of the actin filament-rich, microvillus-type specializations that mediate sensory transduction in various mechanosensory and chemosensory cells. Mutations in this gene are associated with autosomal recessive neurosensory deafness, and autosomal dominant sensorineural deafness without vestibular involvement. [provided by RefSeq, Nov 2009].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_113663" }, "gene_names": [ { "name": "ESPN", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/B1AK53", "id": "B1AK53" }, { "name": "DFNB36; LP2654; USH1M", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_113663", "id": "NP_113663" }, { "name": "DFNB36", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/B1AK53", "id": "B1AK53" }, { "name": "ESPN", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_113663", "id": "NP_113663" }, { "name": "LP2654", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/B1AK53", "id": "B1AK53" } ], "protein_names": [ { "name": "Espin", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "B1AK53" }, { "name": "Autosomal recessive deafness type 36 protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "B1AK53" }, { "name": "Ectoplasmic specialization protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "B1AK53" }, { "name": "ectoplasmic specialization protein; autosomal recessive deafness type 36 protein", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_113663", "id": "NP_113663" }, { "name": "espin isoform 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_113663", "id": "NP_113663" } ], "function": [ { "annotation": "A significant inverse correlation was observed between miR-612 and Espin protein expression in melanoma tissues.", "evidence": [ { "database": "RefSeq", "id": "NP_113663", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_113663" }, { "database": "PubMed", "id": "29385671", "url": "https://glygen.org/publication/PubMed/29385671" } ] }, { "annotation": "Multifunctional actin-bundling protein. Plays a major role in regulating the organization, dimension, dynamics and signaling capacities of the actin filament-rich microvilli in the mechanosensory and chemosensory cells (PubMed:29572253). Required for the assembly and stabilization of the stereociliary parallel actin bundles. Plays a crucial role in the formation and maintenance of inner ear hair cell stereocilia (By similarity). Involved in the elongation of actin in stereocilia (PubMed:29572253). In extrastriolar hair cells, required for targeting MYO3B to stereocilia tips, and for regulation of stereocilia diameter and staircase formation.", "evidence": [ { "database": "UniProtKB", "id": "B1AK53", "url": "https://www.uniprot.org/uniprot/B1AK53#function" }, { "database": "UniProtKB", "id": "Q9ET47", "url": "https://www.uniprot.org/uniprot/Q9ET47#function" }, { "database": "PubMed", "id": "29572253", "url": "https://glygen.org/publication/PubMed/29572253" } ] }, { "annotation": "The structures of Myo3 in complex with Espin1 not only elucidate the mechanism of the binding, but also reveal a Myo3-induced release of Espin1 auto-inhibition mechanism. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_113663", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_113663" }, { "database": "PubMed", "id": "26785147", "url": "https://glygen.org/publication/PubMed/26785147" } ] }, { "annotation": "The utricles were then treated with a gamma-secretase inhibitor, followed by espin or control transduction and histochemistry. Although gamma-secretase inhibition increased the number of HCs, few had stereociliary arrays. In contrast, 46 h after espin1 transduction, a significant increase in hair-bundle-like structures was observed", "evidence": [ { "database": "RefSeq", "id": "NP_113663", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_113663" }, { "database": "PubMed", "id": "26886463", "url": "https://glygen.org/publication/PubMed/26886463" } ] }, { "annotation": "This gene encodes a multifunctional actin-bundling protein. It plays a major role in regulating the organization, dimensions, dynamics, and signaling capacities of the actin filament-rich, microvillus-type specializations that mediate sensory transduction in various mechanosensory and chemosensory cells. Mutations in this gene are associated with autosomal recessive neurosensory deafness, and autosomal dominant sensorineural deafness without vestibular involvement. [provided by RefSeq, Nov 2009].", "evidence": [ { "database": "RefSeq", "id": "NP_113663", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_113663" } ] }, { "annotation": "Ur study uncovers an additional USH gene, assigns the USH1 phenotype to a variant of ESPN and provides a 12th molecular component to the USH proteome", "evidence": [ { "database": "RefSeq", "id": "NP_113663", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_113663" }, { "database": "PubMed", "id": "29572253", "url": "https://glygen.org/publication/PubMed/29572253" } ] }, { "annotation": "Whirlin-espin interaction is important for the architecture of the USH2 complex and actin bundles cross-linked by espin. Our demonstration of whirlin N-terminal fragment interaction with espin, is significantly novel, providing insight into how these two proteins interact to form the USH2 complex.", "evidence": [ { "database": "RefSeq", "id": "NP_113663", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_113663" }, { "database": "PubMed", "id": "31638198", "url": "https://glygen.org/publication/PubMed/31638198" } ] } ], "disease": [ { "disease_id": "DOID:0110494", "recommended_name": { "id": "DOID:0110494", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110494", "name": "autosomal recessive nonsyndromic deafness 36", "description": "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset and has_material_basis_in mutation in the ESPN gene on chromosome 1p36." }, "synonyms": [ { "id": "DOID:0110494", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110494", "name": "DFNB36", "description": "" }, { "id": "DOID:0110494", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110494", "name": "autosomal recessive deafness 36", "description": "" }, { "id": "MONDO:0012170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012170", "name": "autosomal recessive nonsyndromic hearing loss 36", "description": "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the ESPN gene." }, { "id": "MONDO:0012170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012170", "name": "deafness, neurosensory, without vestibular involvement, autosomal dominant", "description": "" }, { "id": "MONDO:0012170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012170", "name": "DFNB36", "description": "" }, { "id": "MONDO:0012170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012170", "name": "ESPN autosomal recessive nonsyndromic deafness", "description": "" }, { "id": "MONDO:0012170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012170", "name": "autosomal recessive deafness 36", "description": "" }, { "id": "MONDO:0012170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012170", "name": "autosomal recessive nonsyndromic deafness 36", "description": "" }, { "id": "MONDO:0012170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012170", "name": "autosomal recessive nonsyndromic deafness caused by mutation in ESPN", "description": "" }, { "id": "MONDO:0012170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012170", "name": "autosomal recessive nonsyndromic deafness type 36", "description": "" }, { "id": "MONDO:0012170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012170", "name": "deafness, autosomal dominant, without vestibular involvement", "description": "" }, { "id": "MONDO:0012170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012170", "name": "deafness, autosomal recessive 36", "description": "" }, { "id": "MONDO:0012170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012170", "name": "deafness, autosomal recessive 36, with or without vestibular involvement", "description": "" }, { "id": "MIM:609006", "resource": "MIM", "url": "https://www.omim.org/entry/609006", "name": "Deafness, autosomal recessive, 36, with or without vestibular involvement", "description": "Deafness, autosomal recessive, 36, with or without vestibular involvement" } ], "evidence": [ { "id": "609006", "database": "MIM", "url": "https://www.omim.org/entry/609006" } ] }, { "disease_id": "MONDO:0032841", "recommended_name": { "id": "MONDO:0032841", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0032841", "name": "Usher syndrome, type 1M", "description": "" }, "synonyms": [ { "id": "MONDO:0032841", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0032841", "name": "USH1M", "description": "" }, { "id": "MONDO:0032841", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0032841", "name": "USHER SYNDROME, TYPE 1M", "description": "" }, { "id": "MIM:618632", "resource": "MIM", "url": "https://www.omim.org/entry/618632", "name": "Usher syndrome 1M", "description": "Usher syndrome 1M" } ], "evidence": [ { "id": "618632", "database": "MIM", "url": "https://www.omim.org/entry/618632" } ] } ], "snv": [], "mutagenesis": [ { "start_pos": 790, "end_pos": 795, "sequence_org": "RRDLLR", "sequence_mut": "KKEIIK", "comment": "No effect on localization to microvilli. No effect on microvillar elongation.", "evidence": [ { "database": "UniProtKB", "id": "B1AK53", "url": "https://www.uniprot.org/uniprot/B1AK53" }, { "database": "PubMed", "id": "29572253", "url": "https://glygen.org/publication/PubMed/29572253" } ] }, { "start_pos": 790, "end_pos": 795, "sequence_org": "RRDLLR", "sequence_mut": "SQSTTS", "comment": "Loss of targeting to microvilli. Impaired microvillar elongation.", "evidence": [ { "database": "UniProtKB", "id": "B1AK53", "url": "https://www.uniprot.org/uniprot/B1AK53" }, { "database": "PubMed", "id": "29572253", "url": "https://glygen.org/publication/PubMed/29572253" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "89.27", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000187017", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000187017" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "61.57", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000187017", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000187017" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "70.56", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000187017", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000187017" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "64.62", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000187017", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000187017" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "79.99", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000187017", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000187017" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "66.65", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000187017", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000187017" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "56.8", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000187017", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000187017" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "92.42", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000187017", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000187017" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "81.43", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000187017", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000187017" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "78.16", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000187017", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000187017" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "B1AK53", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/B1AK53" } ], "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 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"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", 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"BioXpress", "id": "B1AK53", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/B1AK53" } ], "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", 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"https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "B1AK53", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/B1AK53" } ], "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 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"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 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"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": "up", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "B1AK53", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/B1AK53" } ], "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. 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/B1AK53" } ], "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 kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO: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": "up", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "B1AK53", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/B1AK53" } ], "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": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "B1AK53", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/B1AK53" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "B1AK53", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/B1AK53" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "B1AK53", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/B1AK53" } ], "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": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "B1AK53", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/B1AK53" } ], "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": "Yes", "trend": "up", "name": "Esophageal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "B1AK53", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/B1AK53" } ], "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": 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"618632", "url": "http://www.omim.org/entry/618632", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_B1AK53", "url": "https://www.nextprot.org/entry/NX_B1AK53", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "TAHFDIG", "url": "https://omabrowser.org/oma/group/TAHFDIG/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "5472734at2759", "url": "http://www.orthodb.org/?query=5472734at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR24153", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR24153", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR24153:SF14", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR24153:SF14", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF00023", "url": "http://pfam.xfam.org/family/PF00023", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF02205", "url": "http://pfam.xfam.org/family/PF02205", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF12796", "url": "http://pfam.xfam.org/family/PF12796", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "B1AK53", "url": "https://pharos.nih.gov/targets/B1AK53", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_B1AK53", "url": "http://purl.obolibrary.org/obo/PR_B1AK53", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-9662360", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9662360", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-9662361", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9662361", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_113663", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_113663", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "A0A0J9YW00", "url": "https://www.uniprot.org/uniprot/A0A0J9YW00", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0J9YW00-1", "url": "https://www.uniprot.org/uniprot/A0A0J9YW00-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0J9YWQ8", "url": "https://www.uniprot.org/uniprot/A0A0J9YWQ8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0J9YWQ8-1", "url": "https://www.uniprot.org/uniprot/A0A0J9YWQ8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0J9YY76", "url": "https://www.uniprot.org/uniprot/A0A0J9YY76", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0J9YY76-1", "url": "https://www.uniprot.org/uniprot/A0A0J9YY76-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A1B0GUN9", "url": "https://www.uniprot.org/uniprot/A0A1B0GUN9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A1B0GUN9-1", "url": "https://www.uniprot.org/uniprot/A0A1B0GUN9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A1B0GUS9", "url": "https://www.uniprot.org/uniprot/A0A1B0GUS9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A1B0GUS9-1", "url": "https://www.uniprot.org/uniprot/A0A1B0GUS9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A2R8Y6D3", "url": "https://www.uniprot.org/uniprot/A0A2R8Y6D3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A2R8Y6D3-1", "url": "https://www.uniprot.org/uniprot/A0A2R8Y6D3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A2R8Y7L7", "url": "https://www.uniprot.org/uniprot/A0A2R8Y7L7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A2R8Y7L7-1", "url": "https://www.uniprot.org/uniprot/A0A2R8Y7L7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A2R8YG57", "url": "https://www.uniprot.org/uniprot/A0A2R8YG57", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A2R8YG57-1", "url": "https://www.uniprot.org/uniprot/A0A2R8YG57-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "B1AK53", "url": "https://www.uniprot.org/uniprot/B1AK53", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "B1AK53-1", "url": "https://www.uniprot.org/uniprot/B1AK53-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "B1AK53-2", "url": "https://www.uniprot.org/uniprot/B1AK53-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0Y7L4", "url": "https://www.uniprot.org/uniprot/H0Y7L4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0Y7L4-1", "url": "https://www.uniprot.org/uniprot/H0Y7L4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7EMB7", "url": "https://www.uniprot.org/uniprot/K7EMB7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7EMB7-1", "url": "https://www.uniprot.org/uniprot/K7EMB7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q5JYL1", "url": "https://www.uniprot.org/uniprot/Q5JYL1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q5JYL1-1", "url": "https://www.uniprot.org/uniprot/Q5JYL1-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MALEQALQAARQGELDVLRSLHAAGLLGPSLRDPLDALPVHHAARAGKLHCLRFLVEEAALPAAARARNGATPAHDASATGHLACLQWLLSQGGCRVQDKDNSGATVLHLAARFGHPEVVNWLLHHGGGDPTAATDMGALPIHYAAAKGDFPSLRLLVEHYPEGVNAQTKNGATPLYLACQEGHLEVTQYLVQECGADPHARAHDGMTPLHAAAQMGHSPVIVWLVSCTDVSLSEQDKDGATAMHFAASRGHTKVLSWLLLHGGEISADLWGGTPLHDAAENGELECCQILVVNGAELDVRDRDGYTAADLSDFNGHSHCTRYLRTVENLSVEHRVLSRDPSAELEAKQPDSGMSSPNTTVSVQPLNFDLSSPTSTLSNYDSCSSSHSSIKGQHPPCGLSSARAADIQSYMDMLNPELGLPRGTIGKPTPPPPPPSFPPPPPPPGTQLPPPPPGYPAPKPPVGPQAADIYMQTKNKLRHVETEALKKELSSCDGHDGLRRQDSSRKPRAFSKQPSTGDYYRQLGRCPGETLAARPGMAHSEEVRARQPARAGCPRLGPAARGSLEGPSAPPQAALLPGNHVPNGCAADPKASRELPPPPPPPPPPLPEAASSPPPAPPLPLESAGPGCGQRRSSSSTGSTKSFNMMSPTGDNSELLAEIKAGKSLKPTPQSKGLTTVFSGIGQPAFQPDSPLPSVSPALSPVRSPTPPAAGFQPLLNGSLVPVPPTTPAPGVQLDVEALIPTHDEQGRPIPEWKRQVMVRKMQLKMQEEEEQRRKEEEEEARLASMPAWRRDLLRKKLEEEREQKRKEEERQKQEELRREKEQSEKLRTLGYDESKLAPWQRQVILKKGDIAKY", "length": 854, "header": "sp|B1AK53-1|ESPN_HUMAN Isoform 1 of Espin OS=Homo sapiens OX=9606 GN=ESPN PE=1 SV=1 CANONICAL=B1AK53-1" }, "isoforms": [ { "isoform_ac": "A0A0J9YW00-1", "url": "", "sequence": { "sequence": "MAHSEEAALLPGNHVPNGCAADPKASRELPPPPPPPPPPLPEAASSPPPAPPLPLESAGP", "length": 60, "header": "tr|A0A0J9YW00-1|A0A0J9YW00_HUMAN Computationally mapped isoform of Espin OS=Homo sapiens OX=9606 GN=ESPN PE=4 SV=3 CANONICAL=B1AK53-1" }, "locus": { "chromosome": "1", "start_pos": 6449054, "end_pos": 6448785, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000632803.1", "url": "https://www.ensembl.org/id/ENST00000632803.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000487748.1", "url": "https://www.ensembl.org/id/ENSP00000487748.1" } ] } }, { "isoform_ac": "A0A0J9YWQ8-1", "url": "", "sequence": { "sequence": "GCGQRRSSSSTGKVRVLRHRKSTKSFNMMSPTGDNSELLAEIKAGKSLKPTPQSKGLTTVFSGIGQPAFQPDSPLPSVSPALSPVRSPTPPAAGFQPLLNGSLVPVPPTTPAPGVQLDVEALIPTHDEQGRPIPEWKRQVMVRKMQLKMQEEEEQRRKEEEEEARLASMPAWRRDLLRKKLEEEREQKRKEEERQKQEELRREKEQSEKLRTLGYDESKLAPWQRQVILKKGDIAKY", "length": 237, "header": "tr|A0A0J9YWQ8-1|A0A0J9YWQ8_HUMAN Computationally mapped isoform of Espin OS=Homo sapiens OX=9606 GN=ESPN PE=1 SV=1 CANONICAL=B1AK53-1" }, "locus": { "chromosome": "1", "start_pos": 6460143, "end_pos": 6449055, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000633239.1", "url": "https://www.ensembl.org/id/ENST00000633239.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000488071.1", "url": "https://www.ensembl.org/id/ENSP00000488071.1" } ] } }, { "isoform_ac": "A0A0J9YY76-1", "url": "", "sequence": { "sequence": "MMSPTGDNSELLAEIKAGKSLKPTPQSKGLTTVFSGIGQPAFQPDSPLPSVSPALSPVRSPTPPAAGFQPLLNGSLVPVPPTTPAPGVQLDVEALIPTHDEQGRPIPEWKRQVMVRKMQLKMQEEEEQRRKEEEEEARLASMPAWRRDLLRKKLEEEREQKRKEEERQKQEELRREKEQ", "length": 179, "header": "tr|A0A0J9YY76-1|A0A0J9YY76_HUMAN Computationally mapped isoform of Espin OS=Homo sapiens OX=9606 GN=ESPN PE=1 SV=4 CANONICAL=B1AK53-1" }, "locus": { "chromosome": "1", "start_pos": 6460050, "end_pos": 6451620, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000475228.6", "url": "https://www.ensembl.org/id/ENST00000475228.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000488721.2", "url": "https://www.ensembl.org/id/ENSP00000488721.2" } ] } }, { "isoform_ac": "A0A1B0GUN9-1", "url": "", "sequence": { "sequence": "MALEQALQAARQGELDVLRSLHAAGLLGPSLRDPLDALPVHHAARAGKLHCLRFLVEEAALPAAARARNGATPAHDASATGHLACLQWLLSQGGCRVQDKDNSGATVLHLAARFGHPEVVNWLLHHGGGDPTAATDMGALPIHYAAAKGDFPSLRLLVEHYPEGVNAQTKNGATPLYLACQEGHLEVTQYLVQECGADPHARAHDGMTPLHAAAQMGHSPVIVWLVSCTDVSLSEQDKDGATAMHFAASRGHTKVLSWLLLHGGEISADLWGGTPLHDAAENGELECCQILVVNGAELDVRDRDGYTAADLSDFNGHSHCTRYLRTVENLSVEHRVLSRDPSAELEAKQPDSGMSSPNTTVSVQPLNFDLSSPTSTLSNYDSCSSSHSSIKGQHPPCGLSSARAADIQSYMDMLNPELGLPRGTIGKPTPPPPPPSFPPPPPPPGTQLPPPPPGYPAPKPPVGPQAADIYMQTKNKLRHVETEALKKELSSCDGHDGLRRQDSSRKPRAFSKQPSTGDYYRQLGRCPGETLAARPGMAHSEEVRARQPARAGCPRLGPAARGSLEGPSAPPQAALLPGNHVPNGCAADPKASRELPPPPPPPPPPLPEAASSPPPAPPLPLESAGPGCGQRRSSSSTGSTKSFNMMSPTGDNSELLAEIKAGKSLKPTPQSKGLTTVFSGIGQPAFQPDSPLPSVSPALSPVRSPTPPAAGFQPLLNGSLVPVPPTTPAPGVQLDVEALIPTHDEQGRPIPEWKRQVMVRKMQLKMQEEEEQRRKLTAASSCCYPREGWRYSREHNAILGPFGELMTEADILRIEQQIENLQVLHKAQKLEARLEQLELELEQLLPISAALSAPRFTVDPRRMHGRAASLPAWCSKISTLLKNMATLLAALGGRPAHLAELLTADTGQPLAPLPDAPWLPGPLCLGRSHSLSWCREAVAREILECGVSVQHLRATYELRARGAAPARCPRRKPPQSAGAPGREPILEEDYVAARSGQPSAAAAHGPLVDWEPLGTLGPPEVQDRQAALPEPEQLARRPPLCTKLRGVQDYLDLRKERIVYLFLEHWRRWACRGPGRRAQARLRGLLPRVAAAGAGPGLEATDAPRLPASNSEAHSPDERLRQLLRQRQAVGKLLGHWRSLLRRVPASPGLAHGLYWPQHFLPPLDGGAPPHYDSLTLDLFMLGYFQLLEMGLSREERKFRHLLCYEMFDRLGSHPWERIRLFHRVVLEEVEAGRRGWSDGFEDLRHRFFGNGLEAEPAPEEQAKEKEEEGKEQERTEEAAPFQTGDPPEGQPEALAPAPQPPPPPPPAAPPPTSDSPGSEAPAEDPLELVSEMGEFSNEDICRYIDRSFSFWKEKEAELFDI", "length": 1362, "header": "tr|A0A1B0GUN9-1|ESPN_HUMAN Computationally mapped isoform of Espin OS=Homo sapiens OX=9606 GN=ESPN PE=1 SV=1 CANONICAL=B1AK53-1" }, "locus": { "chromosome": "1", "start_pos": 6456194, "end_pos": 6424956, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000636330.1", "url": "https://www.ensembl.org/id/ENST00000636330.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000490186.1", "url": "https://www.ensembl.org/id/ENSP00000490186.1" } ] } }, { "isoform_ac": "A0A1B0GUS9-1", "url": "", "sequence": { "sequence": "MNSQGPPGRGPPSRTKSFNMMSPTGDNSELLAEIKAGKSLKPTPQSKGLTTVFSGIGQPAFQPDSPLPSVSPALSPVRSPTPPAAGFQPLLNGSLVPVPPTTPAPGVQLDVEALIPTHDEQGRPIPEWKRQVMVRKMQLKMQEEEEQRRKEEEEEARLASMPAWRRDLLRKKLEEE", "length": 176, "header": "tr|A0A1B0GUS9-1|A0A1B0GUS9_HUMAN Computationally mapped isoform of Espin OS=Homo sapiens OX=9606 GN=ESPN PE=1 SV=1 CANONICAL=B1AK53-1" }, "locus": { "chromosome": "1", "start_pos": 6457261, "end_pos": 6451331, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000636644.1", "url": "https://www.ensembl.org/id/ENST00000636644.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000490230.1", "url": "https://www.ensembl.org/id/ENSP00000490230.1" } ] } }, { "isoform_ac": "A0A2R8Y6D3-1", "url": "", "sequence": { "sequence": "MAHSEEVRARQPARAGCPRLGPAARGSLEGPSAPPQAALLPGNHVPNGCAADPKASRELPPPPPPPPPPLPEAASSPPPAPPLP", "length": 84, "header": "tr|A0A2R8Y6D3-1|A0A2R8Y6D3_HUMAN Computationally mapped isoform of Espin OS=Homo sapiens OX=9606 GN=ESPN PE=1 SV=1 CANONICAL=B1AK53-1" }, "locus": { "chromosome": "1", "start_pos": 6449036, "end_pos": 6448785, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000632593.1", "url": "https://www.ensembl.org/id/ENST00000632593.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000495145.1", "url": "https://www.ensembl.org/id/ENSP00000495145.1" } ] } }, { "isoform_ac": "A0A2R8Y7L7-1", "url": "", "sequence": { "sequence": "MMSPTGDNSELLAEIKAGKSLKPTPQSKGLTTVFSGIGQPAFQPDSPLPSVSPALSPVRSPTPPAAGFQPLLNGSLVPVPPT", "length": 82, "header": "tr|A0A2R8Y7L7-1|A0A2R8Y7L7_HUMAN Computationally mapped isoform of Espin OS=Homo sapiens OX=9606 GN=ESPN PE=1 SV=1 CANONICAL=B1AK53-1" }, "locus": { "chromosome": "1", "start_pos": 6451949, "end_pos": 6451620, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000475479.2", "url": "https://www.ensembl.org/id/ENST00000475479.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000496370.1", "url": "https://www.ensembl.org/id/ENSP00000496370.1" } ] } }, { "isoform_ac": "A0A2R8YG57-1", "url": "", "sequence": { "sequence": "XFSGIGQPAFQVGGPSRSLRPGFPGPRPPGAQPHRFSLQPDSPLPSVSPALSPVRSPTPPAAGFQPLLNGSLVPVPPTTPAPGVQLDVEALIPTHDEQGRPIPEWKRQVMVRKMQLKMQEEEEQRRKEEEEEARLASMPAWRRDLLRKKLEEEREQKRKEEERQKQEELRREKEQSEKLRTLGYDESKLAPWQRQVILKKGDIAKY", "length": 206, "header": "tr|A0A2R8YG57-1|A0A2R8YG57_HUMAN Computationally mapped isoform of Espin OS=Homo sapiens OX=9606 GN=ESPN PE=1 SV=1 CANONICAL=B1AK53-1" }, "locus": { "chromosome": "1", "start_pos": 6460144, "end_pos": 6451717, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000477679.2", "url": "https://www.ensembl.org/id/ENST00000477679.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000495669.1", "url": "https://www.ensembl.org/id/ENSP00000495669.1" } ] } }, { "isoform_ac": "B1AK53-1", "url": "", "sequence": { "sequence": "MALEQALQAARQGELDVLRSLHAAGLLGPSLRDPLDALPVHHAARAGKLHCLRFLVEEAALPAAARARNGATPAHDASATGHLACLQWLLSQGGCRVQDKDNSGATVLHLAARFGHPEVVNWLLHHGGGDPTAATDMGALPIHYAAAKGDFPSLRLLVEHYPEGVNAQTKNGATPLYLACQEGHLEVTQYLVQECGADPHARAHDGMTPLHAAAQMGHSPVIVWLVSCTDVSLSEQDKDGATAMHFAASRGHTKVLSWLLLHGGEISADLWGGTPLHDAAENGELECCQILVVNGAELDVRDRDGYTAADLSDFNGHSHCTRYLRTVENLSVEHRVLSRDPSAELEAKQPDSGMSSPNTTVSVQPLNFDLSSPTSTLSNYDSCSSSHSSIKGQHPPCGLSSARAADIQSYMDMLNPELGLPRGTIGKPTPPPPPPSFPPPPPPPGTQLPPPPPGYPAPKPPVGPQAADIYMQTKNKLRHVETEALKKELSSCDGHDGLRRQDSSRKPRAFSKQPSTGDYYRQLGRCPGETLAARPGMAHSEEVRARQPARAGCPRLGPAARGSLEGPSAPPQAALLPGNHVPNGCAADPKASRELPPPPPPPPPPLPEAASSPPPAPPLPLESAGPGCGQRRSSSSTGSTKSFNMMSPTGDNSELLAEIKAGKSLKPTPQSKGLTTVFSGIGQPAFQPDSPLPSVSPALSPVRSPTPPAAGFQPLLNGSLVPVPPTTPAPGVQLDVEALIPTHDEQGRPIPEWKRQVMVRKMQLKMQEEEEQRRKEEEEEARLASMPAWRRDLLRKKLEEEREQKRKEEERQKQEELRREKEQSEKLRTLGYDESKLAPWQRQVILKKGDIAKY", "length": 854, "header": "sp|B1AK53-1|ESPN_HUMAN Isoform 1 of Espin OS=Homo sapiens OX=9606 GN=ESPN PE=1 SV=1 CANONICAL=B1AK53-1" }, "locus": { "chromosome": "1", "start_pos": 6460143, "end_pos": 6424956, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000645284.1", "url": "https://www.ensembl.org/id/ENST00000645284.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000496593.1", "url": "https://www.ensembl.org/id/ENSP00000496593.1" } ] } }, { "isoform_ac": "B1AK53-2", "url": "", "sequence": { "sequence": "MAHSEEAALLPGNHVPNGCAADPKASRELPPPPPPPPPPLPEAASSPPPAPPLPLESAGPGCGQRRSSSSTGSTKSFNMMSPTGDNSELLAEIKAGKSLKPTPQSKGLTTVFSGIGQPAFQPDSPLPSVSPALSPVRSPTPPAAGFQPLLNGSLVPVPPTTPAPGVQLDVEALIPTHDEQGRPIPEWKRQVMVRKMQLKMQEEEEQRRKEEEEEARLASMPAWRRDLLRKKLEEEREQKRKEEERQKQEELRREKEQSEKLRTLGYDESKLAPWQRQVILKKGDIAKY", "length": 288, "header": "sp|B1AK53-2|ESPN_HUMAN Isoform 2 of Espin OS=Homo sapiens OX=9606 GN=ESPN PE=1 SV=1 CANONICAL=B1AK53-1" }, "locus": { "chromosome": "1", "start_pos": 6460143, "end_pos": 6448785, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000461727.6", "url": "https://www.ensembl.org/id/ENST00000461727.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000465308.1", "url": "https://www.ensembl.org/id/ENSP00000465308.1" } ] } }, { "isoform_ac": "H0Y7L4-1", "url": "", "sequence": { "sequence": "XEIKAGKSLKPTPQSKGLTTVFSGIGQPAFQPDSPLPSVSPALSPVRSPTPPAAGFQPLLNGSLVPVPPTTPAPGVQLDVEALIPTHDEQGRPIPEWKRQVMVRKMQLKMQEEEEQRRKEEEEEARLASMPAWRRDLLRKKLEEEREQKRKEEERQKQEELRREKEQSEKLRTLGYDESKLAPWQRQI", "length": 188, "header": "tr|H0Y7L4-1|H0Y7L4_HUMAN Computationally mapped isoform of Espin OS=Homo sapiens OX=9606 GN=ESPN PE=1 SV=1 CANONICAL=B1AK53-1" }, "locus": { "chromosome": "1", "start_pos": 6461184, "end_pos": 6451658, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000434576.2", "url": "https://www.ensembl.org/id/ENST00000434576.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000413621.1", "url": "https://www.ensembl.org/id/ENSP00000413621.1" } ] } }, { "isoform_ac": "K7EMB7-1", "url": "", "sequence": { "sequence": "MAHSEEAALLPGNHVPNGCAADPKASRE", "length": 28, "header": "tr|K7EMB7-1|K7EMB7_HUMAN Computationally mapped isoform of Espin OS=Homo sapiens OX=9606 GN=ESPN PE=4 SV=1 CANONICAL=B1AK53-1" }, "locus": { "chromosome": "1", "start_pos": 6448958, "end_pos": 6448785, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000478323.1", "url": "https://www.ensembl.org/id/ENST00000478323.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000466437.1", "url": "https://www.ensembl.org/id/ENSP00000466437.1" } ] } }, { "isoform_ac": "Q5JYL1-1", "url": "", "sequence": { "sequence": "DGMTPLHAAAQMGHSPVIVWLDKDGATAMHFAASRGHTKVLSWLLLHGGEISADLWGGTPLHDAAENGELECCQILVVNGAELDVRDRDGYTAADLSDFNGHSHCTRYLRTVENLSVEHRVLSRDPSAELEAKQPDSGMSSPNTTVSVQPLNFDLSSPTSTLSNYDSCSSSHSSIKGQHPPCGLSSARAADIQSYMDMLNPELGLPRGTIGKP", "length": 213, "header": "tr|Q5JYL1-1|Q5JYL1_HUMAN Computationally mapped isoform of Espin OS=Homo sapiens OX=9606 GN=ESPN PE=1 SV=8 CANONICAL=B1AK53-1" }, "locus": { "chromosome": "1", "start_pos": 6445755, "end_pos": 6440378, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000418286.1", "url": "https://www.ensembl.org/id/ENST00000418286.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000401793.1", "url": "https://www.ensembl.org/id/ENSP00000401793.1" } ] } } ], "glycosylation": [], "phosphorylation": [ { "start_pos": 338, "end_pos": 338, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "B1AK53", "url": "https://www.uniprot.org/uniprot/B1AK53" } ], "site_lbl": "Ser338" }, { "start_pos": 342, "end_pos": 342, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "B1AK53", "url": "https://www.uniprot.org/uniprot/B1AK53" } ], "site_lbl": "Ser342" }, { "start_pos": 515, "end_pos": 515, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": 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"Ser696" } ], "glycation": [], "keywords": [], "publication": [ { "title": "KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness.", "journal": "Cell", "date": "1999", "authors": "Kubisch C, Schroeder BC, Friedrich T, Lutjohann B, El-Amraoui A, Marlin S, Petit C, Jentsch TJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-9662360", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9662360" } ], "reference": [ { "type": "PubMed", "id": "10025409", "url": "https://glygen.org/publication/PubMed/10025409" } ] }, { "title": "Prestin is the motor protein of cochlear outer hair cells.", "journal": "Nature", "date": "2000", "authors": "Zheng J, Shen W, He DZ, Long KB, Madison LD, Dallos P", "evidence": [ { "database": "Reactome", "id": "R-HSA-9662361", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9662361" } ], "reference": [ { "type": "PubMed", "id": "10821263", "url": "https://glygen.org/publication/PubMed/10821263" } ] }, 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"https://www.uniprot.org/uniprot/B1AK53" } ], "reference": [ { "type": "PubMed", "id": "11230166", "url": "https://glygen.org/publication/PubMed/11230166" } ] }, { "title": "Mutations of ESPN cause autosomal recessive deafness and vestibular dysfunction.", "journal": "J. Med. Genet.", "date": "2004", "authors": "Naz S, Griffith A J, Riazuddin S, Hampton L L, Battey J F, Khan S N, Riazuddin S, Wilcox E R, Friedman T B", "evidence": [ { "database": "UniProtKB", "id": "B1AK53", "url": "https://www.uniprot.org/uniprot/B1AK53" } ], "reference": [ { "type": "PubMed", "id": "15286153", "url": "https://glygen.org/publication/PubMed/15286153" } ] }, { "title": "Large-scale cDNA transfection screening for genes related to cancer development and progression.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "2004", "authors": "Wan D, Gong Y, Qin W, Zhang P, Li J, Wei L, Zhou X, Li H, Qiu X, Zhong F, He L, Yu J, Yao G, Jiang H, Qian L, Yu Y, Shu H, Chen X, Xu H, Guo M, Pan Z, Chen Y, Ge C, Yang S, Gu J", "evidence": [ { "database": "UniProtKB", "id": "B1AK53", "url": "https://www.uniprot.org/uniprot/B1AK53" } ], "reference": [ { "type": "PubMed", "id": "15498874", "url": "https://glygen.org/publication/PubMed/15498874" } ] }, { "title": "Espin gene (ESPN) mutations associated with autosomal dominant hearing loss cause defects in microvillar elongation or organisation.", "journal": "Journal of medical genetics", "date": "2006", "authors": "Donaudy F, Zheng L, Ficarella R, Ballana E, Carella M, Melchionda S, Estivill X, Bartles JR, Gasparini P", "evidence": [ { "database": "UniProtKB", "id": "B1AK53", "url": "https://www.uniprot.org/uniprot/B1AK53" } ], "reference": [ { "type": "PubMed", "id": "15930085", "url": "https://glygen.org/publication/PubMed/15930085" } ] }, { "title": "Myosin III-mediated cross-linking and stimulation of actin bundling activity of Espin.", "journal": "eLife", "date": "2016", "authors": "Liu H, Li J, Raval MH, Yao N, Deng X, Lu Q, Nie S, Feng W, Wan J, Yengo CM, Liu W, Zhang M", "evidence": [ { "database": "RefSeq", "id": "NP_113663", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_113663" } ], "reference": [ { "type": "PubMed", "id": "26785147", "url": "https://glygen.org/publication/PubMed/26785147" } ] }, { "title": "Hair cell stereociliary bundle regeneration by espin gene transduction after aminoglycoside damage and hair cell induction by Notch inhibition.", "journal": "Gene therapy", "date": "2016", "authors": "Taura A, Taura K, Koyama Y, Yamamoto N, Nakagawa T, Ito J, Ryan AF", "evidence": [ { "database": "RefSeq", "id": "NP_113663", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_113663" } ], "reference": [ { "type": "PubMed", "id": "26886463", "url": "https://glygen.org/publication/PubMed/26886463" } ] }, { "title": "Molecular Analysis of Twelve Pakistani Families with Nonsyndromic or Syndromic Hearing Loss.", "journal": "Genetic testing and molecular biomarkers", "date": "2017", "authors": "Wang R, Han S, Khan A, Zhang X", "evidence": [ { "database": "UniProtKB", "id": "B1AK53", "url": "https://www.uniprot.org/uniprot/B1AK53" } ], "reference": [ { "type": "PubMed", "id": "28281779", "url": "https://glygen.org/publication/PubMed/28281779" } ] }, { "title": "Overexpression of microRNA-612 Restrains the Growth, Invasion, and Tumorigenesis of Melanoma Cells by Targeting Espin.", "journal": "Molecules and cells", "date": "2018", "authors": "Zhu Y, Zhang HL, Wang QY, Chen MJ, Liu LB", "evidence": [ { "database": "RefSeq", "id": "NP_113663", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_113663" } ], "reference": [ { "type": "PubMed", "id": "29385671", "url": "https://glygen.org/publication/PubMed/29385671" } ] }, { "title": "Inframe deletion of human ESPN is associated with deafness, vestibulopathy and vision impairment.", "journal": "Journal of medical genetics", "date": "2018", "authors": "Ahmed ZM, Jaworek TJ, Sarangdhar GN, Zheng L, Gul K, Khan SN, Friedman TB, Sisk RA, Bartles JR, Riazuddin S, Riazuddin S", "evidence": [ { "database": "UniProtKB", "id": "B1AK53", "url": "https://www.uniprot.org/uniprot/B1AK53" }, { "database": "RefSeq", "id": "NP_113663", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_113663" } ], "reference": [ { "type": "PubMed", "id": "29572253", "url": "https://glygen.org/publication/PubMed/29572253" } ] }, { "title": "Identification of whirlin domains interacting with espin: A study of the mechanism of Usher syndrome type II.", "journal": "Molecular medicine reports", "date": "2019", "authors": "Wang L, Wei B, Fu X, Wang Y, Sui Y, Ma J, Gong X, Hao J, Xing S", "evidence": [ { "database": "RefSeq", "id": "NP_113663", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_113663" } ], "reference": [ { "type": "PubMed", "id": "31638198", "url": "https://glygen.org/publication/PubMed/31638198" } ] } ], "pathway": [ { "id": "hsa:83715", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:83715", "resource": "KEGG Pathway" }, { "id": "R-HSA-9662360", "name": "Sensory processing of sound by inner hair cells of the cochlea", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9662360", "resource": "Reactome", "description": "Sensory processing of sound by inner hair cells of the cochlea" }, { "id": "R-HSA-9662361", "name": "Sensory processing of sound by outer hair cells of the cochlea", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9662361", "resource": "Reactome", "description": "Sensory processing of sound by outer hair cells of the cochlea" } ], "orthologs": [ { "uniprot_canonical_ac": "Q63618-1", "protein_name": "Espin", "gene_name": "Espn", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": 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