[ { "uniprot_canonical_ac": "Q96QU1-1", "uniprot_ac": "Q96QU1", "uniprot_id": "PCD15_HUMAN", "mass": { "chemical_mass": 216069.0, "monoisotopic_mass": 216069.0 }, "refseq": { "ac": "NP_149045", "name": "protocadherin-15 isoform CD1-4 precursor", "summary": "This gene is a member of the cadherin superfamily. Family members encode integral membrane proteins that mediate calcium-dependent cell-cell adhesion. It plays an essential role in maintenance of normal retinal and cochlear function. Mutations in this gene result in hearing loss and Usher Syndrome Type IF (USH1F). Extensive alternative splicing resulting in multiple isoforms has been observed in the mouse ortholog. Similar alternatively spliced transcripts are inferred to occur in human, and additional variants are likely to occur. [provided by RefSeq, Dec 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_149045" }, "gene_names": [ { "name": "PCDH15", "type": "recommended", "evidence": [ { "id": "Q96QU1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q96QU1" } ] }, { "name": "CDHR15", "type": "synonym", "evidence": [ { "id": "NP_149045", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_149045" } ] }, { "name": "DFNB23", "type": "synonym", "evidence": [ { "id": "NP_149045", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_149045" } ] }, { "name": "PCDH15", "type": "synonym", "evidence": [ { "id": "NP_149045", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_149045" } ] }, { "name": "USH1F", "type": "synonym", "evidence": [ { "id": "NP_149045", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_149045" }, { "id": "Q96QU1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q96QU1" } ] } ], "protein_names": [ { "name": "Protocadherin-15", "type": "recommended", "evidence": [ { "id": "Q96QU1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q96QU1/entry#names_and_taxonomy" } ] }, { "name": "cadherin-related family member 15", "type": "synonym", "evidence": [ { "id": "NP_149045", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_149045" } ] }, { "name": "protocadherin-15 isoform CD1-4 precursor", "type": "synonym", "evidence": [ { "id": "NP_149045", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_149045" } ] } ], "function": [ { "annotation": "A novel compound heterozygous PCDH15 variants is associated with arRP in a Chinese pedigree. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_149045", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_149045" }, { "database": "PubMed", "id": "39187782", "url": "https://glygen.org/publication/PubMed/39187782" } ] }, { "annotation": "Both mouse and human protocadherin 15 genes have complex genomic structures and transcription control mechanisms.", "evidence": [ { "database": "RefSeq", "id": "NP_149045", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_149045" }, { "database": "PubMed", "id": "17706913", "url": "https://glygen.org/publication/PubMed/17706913" } ] }, { "annotation": "Calcium-dependent cell-adhesion protein. Essential for maintenance of normal retinal and cochlear function.", "evidence": [ { "database": "UniProtKB", "id": "Q96QU1", "url": "https://www.uniprot.org/uniprotkb/Q96QU1#function" } ] }, { "annotation": "Mutations cause Usher syndrome type 1F. Protocadherins are essential for maintenance of normal retinal and cochlear function. Erratum:[Hum Mol Genet 2001 Oct 15;10(22):2603. Hagemen GS [corrected to Hageman GS]]", "evidence": [ { "database": "RefSeq", "id": "NP_149045", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_149045" }, { "database": "PubMed", "id": "11487575", "url": "https://glygen.org/publication/PubMed/11487575" } ] }, { "annotation": "Nanomechanics of wild-type and mutant dimers of the inner-ear tip-link protein protocadherin 15.", "evidence": [ { "database": "RefSeq", "id": "NP_149045", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_149045" }, { "database": "PubMed", "id": "39298473", "url": "https://glygen.org/publication/PubMed/39298473" } ] }, { "annotation": "Study of PCDH15 mutations in nonsyndromic deafness DFNB23 and type 1 Usher syndrome", "evidence": [ { "database": "RefSeq", "id": "NP_149045", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_149045" }, { "database": "PubMed", "id": "18719945", "url": "https://glygen.org/publication/PubMed/18719945" } ] }, { "annotation": "This gene is a member of the cadherin superfamily. Family members encode integral membrane proteins that mediate calcium-dependent cell-cell adhesion. It plays an essential role in maintenance of normal retinal and cochlear function. Mutations in this gene result in hearing loss and Usher Syndrome Type IF (USH1F). Extensive alternative splicing resulting in multiple isoforms has been observed in the mouse ortholog. Similar alternatively spliced transcripts are inferred to occur in human, and additional variants are likely to occur. [provided by RefSeq, Dec 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_149045", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_149045" } ] } ], "disease": [ { "disease_id": "DOID:0050439", "recommended_name": { "id": "DOID:0050439", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050439", "name": "Usher syndrome", "description": "A syndrome characterized by a combination of hearing loss and visual impairment." }, "synonyms": [ { "id": "MONDO:0700087", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700087", "name": "Usher syndrome type 1B", "description": "Usher syndrome in which the cause of the disease is a mutation in the MYO7A gene" }, { "id": "MONDO:0700087", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700087", "name": "Usher syndrome, type 1B", "description": "" }, { "id": "MIM:276900", "resource": "MIM", "url": "https://www.omim.org/entry/276900", "name": "Usher syndrome 1B", "description": "Usher syndrome 1B" } ], "unlinked_id_list": [], "evidence": [ { "id": "0050439", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050439" } ] }, { "disease_id": "DOID:0070655", "recommended_name": { "id": "DOID:0070655", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070655", "name": "Usher syndrome type 1B", "description": "An Usher syndrome type 1 that has_material_basis_in homozygous or compound heterozygous mutation in the MYO7A gene on chromosome 11q13." }, "synonyms": [ { "id": "DOID:0070655", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070655", "name": "USH1B", "description": "" }, { "id": "DOID:0070655", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070655", "name": "Usher syndrome type IB", "description": "" }, { "id": "MONDO:0700087", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700087", "name": "Usher syndrome type 1B", "description": "Usher syndrome in which the cause of the disease is a mutation in the MYO7A gene" }, { "id": "MONDO:0700087", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700087", "name": "Usher syndrome, type 1B", "description": "" }, { "id": "MIM:276900", "resource": "MIM", "url": "https://www.omim.org/entry/276900", "name": "Usher syndrome 1B", "description": "Usher syndrome 1B" } ], "unlinked_id_list": [], "evidence": [ { "id": "276900", "database": "MIM", "url": "https://www.omim.org/entry/276900" }, { "id": "0070655", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070655" } ] }, { "disease_id": "DOID:0110481", "recommended_name": { "id": "DOID:0110481", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110481", "name": "autosomal recessive nonsyndromic deafness 23", "description": "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the PCDH15 gene on chromosome 10q21." }, "synonyms": [ { "id": "DOID:0110481", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110481", "name": "DFNB23", "description": "" }, { "id": "DOID:0110481", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110481", "name": "autosomal recessive deafness 23", "description": "" }, { "id": "MONDO:0012293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012293", "name": "autosomal recessive nonsyndromic hearing loss 23", "description": "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the PCDH15 gene." }, { "id": "MONDO:0012293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012293", "name": "DFNB23", "description": "" }, { "id": "MONDO:0012293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012293", "name": "PCDH15 autosomal recessive nonsyndromic deafness", "description": "" }, { "id": "MONDO:0012293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012293", "name": "autosomal recessive deafness 23", "description": "" }, { "id": "MONDO:0012293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012293", "name": "autosomal recessive nonsyndromic deafness 23", "description": "" }, { "id": "MONDO:0012293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012293", "name": "autosomal recessive nonsyndromic deafness caused by mutation in PCDH15", "description": "" }, { "id": "MONDO:0012293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012293", "name": "autosomal recessive nonsyndromic deafness type 23", "description": "" }, { "id": "MONDO:0012293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012293", "name": "deafness, autosomal recessive 23", "description": "" }, { "id": "MONDO:0012293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012293", "name": "deafness, autosomal recessive type 23", "description": "" }, { "id": "MIM:609533", "resource": "MIM", "url": "https://www.omim.org/entry/609533", "name": "Deafness, autosomal recessive, 23", "description": "Deafness, autosomal recessive, 23" } ], "unlinked_id_list": [], "evidence": [ { "id": "609533", "database": "MIM", "url": "https://www.omim.org/entry/609533" }, { "id": "0110481", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110481" } ] }, { "disease_id": "DOID:0110831", "recommended_name": { "id": "DOID:0110831", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110831", "name": "Usher syndrome type 1D", "description": "An Usher syndrome type 1 that has_material_basis_in homozygous or compound heterozygous mutation in the CDH23 gene on chromosome 10q22." }, "synonyms": [ { "id": "DOID:0110831", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110831", "name": "USH1D", "description": "" }, { "id": "DOID:0110831", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110831", "name": "Usher syndrome type ID", "description": "" }, { "id": "MONDO:0010984", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010984", "name": "Usher syndrome type 1D", "description": "A form of Usher syndrome type I that is caused by homozygous or compound heterozygous mutation in the gene encoding cadherin-23 (CDH23) on chromosome 10q22. It is inherited in an autosomal recessive manner." }, { "id": "MONDO:0010984", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010984", "name": "USH1D", "description": "" }, { "id": "MONDO:0010984", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010984", "name": "Usher syndrome, type 1D/F digenic", "description": "" }, { "id": "MONDO:0010984", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010984", "name": "USHER syndrome, type ID", "description": "" }, { "id": "MONDO:0010984", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010984", "name": "Usher syndrome, type 1D", "description": "" }, { "id": "MIM:601067", "resource": "MIM", "url": "https://www.omim.org/entry/601067", "name": "Usher syndrome 1D", "description": "Usher syndrome 1D" } ], "unlinked_id_list": [], "evidence": [ { "id": "601067", "database": "MIM", "url": "https://www.omim.org/entry/601067" }, { "id": "0110831", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110831" }, { "id": "0110831", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110831" } ] }, { "disease_id": "DOID:0110832", "recommended_name": { "id": "DOID:0110832", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110832", "name": "Usher syndrome type 1F", "description": "An Usher syndrome type 1 that has_material_basis_in caused by homozygous or compound heterozygous mutation in the PCDH15 gene on chromosome 10q." }, "synonyms": [ { "id": "DOID:0110832", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110832", "name": "USH1F", "description": "" }, { "id": "DOID:0110832", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110832", "name": "Usher syndrome type IF", "description": "" }, { "id": "MONDO:0011186", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011186", "name": "Usher syndrome type 1F", "description": "A form of Usher syndrome type IF that can be caused by homozygous or compound heterozygous mutation in the protocadherin-15 gene (PCDH15) on chromosome 10q. It is inherited in an autosomal recessive manner." }, { "id": "MONDO:0011186", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011186", "name": "USH1F", "description": "" }, { "id": "MONDO:0011186", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011186", "name": "Usher syndrome type 1F", "description": "" }, { "id": "MONDO:0011186", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011186", "name": "USHER syndrome, type IF", "description": "" }, { "id": "MONDO:0011186", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011186", "name": "Usher syndrome, type 1F", "description": "" }, { "id": "MIM:602083", "resource": "MIM", "url": "https://www.omim.org/entry/602083", "name": "Usher syndrome 1F", "description": "Usher syndrome 1F" } ], "unlinked_id_list": [], "evidence": [ { "id": "602083", "database": "MIM", "url": "https://www.omim.org/entry/602083" }, { "id": "0110832", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110832" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "57.45", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000150275", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000150275" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "57.98", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000150275", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000150275" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "55.71", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000150275", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000150275" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "49.93", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000150275", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000150275" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "52.46", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000150275", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000150275" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "39.99", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000150275", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000150275" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "31.45", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000150275", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000150275" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "37.14", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000150275", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000150275" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "40.65", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000150275", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000150275" } ] } ], "expression_disease": [ { "significant": "No", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "https://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "Q96QU1", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q96QU1" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "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: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": "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: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: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: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: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: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: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: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: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: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: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:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "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:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] } ] }, { "significant": "No", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "https://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "Q96QU1", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q96QU1" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "GC", "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": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ] }, { "significant": "No", "trend": "down", "name": "Urinary bladder cancer [DO disease name]", "url": "https://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "Q96QU1", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q96QU1" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://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" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] } ] }, { "significant": "No", "trend": "down", "name": "Head and neck cancer [DO disease name]", "url": "https://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "Q96QU1", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q96QU1" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ], "unlinked_id_list": [ "DOID:1542" ], "evidence": [ { "id": "11934", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11934" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Lung cancer [DO disease name]", "url": "https://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "Q96QU1", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q96QU1" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "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: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: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": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Breast cancer [DO disease name]", "url": "https://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "Q96QU1", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q96QU1" } ], "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://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": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "https://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "Q96QU1", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q96QU1" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thyroid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3973", "DOID:0080524", "DOID:0080525" ], "evidence": [ { "id": "1781", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1781" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Kidney cancer [DO disease name]", "url": "https://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "Q96QU1", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q96QU1" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3675", "DOID:4455" ], "evidence": [ { "id": "263", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:263" } ] } ] }, { "significant": "No", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "https://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "Q96QU1", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q96QU1" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "3571", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3571" } ] } ] }, { "significant": "No", "trend": "up", "name": "Uterine cancer [DO disease name]", "url": "https://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "Q96QU1", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q96QU1" } ], "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ] }, { "significant": "No", "trend": "down", "name": "Esophageal cancer [DO disease name]", "url": "https://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "Q96QU1", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q96QU1" } ], "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Colorectal cancer [DO disease name]", "url": "https://disease-ontology.org/term/DOID:9256", "evidence": [ { "database": "BioXpress", "id": "Q96QU1", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q96QU1" } ], "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96QU1", "url": "https://www.uniprot.org/uniprotkb/Q96QU1" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "gene": [ { "name": "PCDH15", "url": "https://www.uniprot.org/uniprotkb/Q96QU1", "locus": { "chromosome": "10", "start_pos": 53802771, "end_pos": 55627942, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000150275", "url": "https://www.ensembl.org/id/ENSG00000150275" } ] } } ], "crossref": [ { "id": "HGNC:14674", "url": "https://alliancegenome.org/gene/HGNC:14674", "database": "AGR", "categories": [ "Protein Classification" ] }, { "id": "Q96QU1", "url": "https://alphafold.ebi.ac.uk/entry/Q96QU1", "database": "AlphaFoldDB", "categories": [] }, { "id": "ENSG00000150275", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000150275", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "Q96QU1", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96QU1", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "cd11304", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd11304", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "CHEMBL6112", "url": "https://www.ebi.ac.uk/chembl/target/inspect/CHEMBL6112", "database": "ChEMBL", "categories": [ "Chemical" ] }, { "id": "PCDH15", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCDH15", "database": "GeneCards", "categories": [ "Organism-specific", "Gene Annotation" ] }, { "id": "65217", "url": "https://www.ncbi.nlm.nih.gov/gene/65217", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "14674", "url": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:14674", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "65217", "url": "https://hpo.jax.org/browse/gene/NCBIGene:65217", "database": "HPO", "categories": [ "Other" ] }, { "id": "4XHZ", "url": "https://www.ncbi.nlm.nih.gov/Structure/icn3d/?mmdbid=4XHZ&bu=0", "database": "iCn3D", "categories": [ "3D Structure" ] }, { "id": "5T4M", "url": "https://www.ncbi.nlm.nih.gov/Structure/icn3d/?mmdbid=5T4M&bu=0", "database": "iCn3D", "categories": [ "3D Structure" ] }, { "id": "5T4N", "url": "https://www.ncbi.nlm.nih.gov/Structure/icn3d/?mmdbid=5T4N&bu=0", "database": "iCn3D", "categories": [ "3D Structure" ] }, { "id": "5ULY", "url": "https://www.ncbi.nlm.nih.gov/Structure/icn3d/?mmdbid=5ULY&bu=0", "database": "iCn3D", "categories": [ "3D Structure" ] }, { "id": "6E8F", "url": "https://www.ncbi.nlm.nih.gov/Structure/icn3d/?mmdbid=6E8F&bu=0", "database": "iCn3D", "categories": [ "3D Structure" ] }, { "id": "6EB5", "url": "https://www.ncbi.nlm.nih.gov/Structure/icn3d/?mmdbid=6EB5&bu=0", "database": "iCn3D", "categories": [ "3D Structure" ] }, { "id": "6MFO", "url": "https://www.ncbi.nlm.nih.gov/Structure/icn3d/?mmdbid=6MFO&bu=0", "database": "iCn3D", "categories": [ "3D Structure" ] }, { "id": "6N2E", "url": "https://www.ncbi.nlm.nih.gov/Structure/icn3d/?mmdbid=6N2E&bu=0", "database": "iCn3D", "categories": [ "3D Structure" ] }, { "id": "1037138", "url": "https://www.iedb.org/epitope/1037138", "database": "IEDB", "categories": [ "Other" ] }, { "id": "1057594", "url": "https://www.iedb.org/epitope/1057594", "database": "IEDB", "categories": [ "Other" ] }, { "id": "1089173", "url": "https://www.iedb.org/epitope/1089173", "database": "IEDB", "categories": [ "Other" ] }, { "id": "1092309", "url": "https://www.iedb.org/epitope/1092309", "database": "IEDB", "categories": [ "Other" ] }, { "id": "1338062", "url": "https://www.iedb.org/epitope/1338062", "database": "IEDB", "categories": [ "Other" ] }, { "id": "1349674", "url": "https://www.iedb.org/epitope/1349674", "database": "IEDB", "categories": [ "Other" ] }, { "id": "1361354", "url": "https://www.iedb.org/epitope/1361354", "database": "IEDB", "categories": [ "Other" ] }, { "id": "1371703", "url": "https://www.iedb.org/epitope/1371703", "database": "IEDB", "categories": [ "Other" ] }, { "id": "1852673", "url": "https://www.iedb.org/epitope/1852673", "database": "IEDB", "categories": [ "Other" ] }, { "id": "1990488", "url": "https://www.iedb.org/epitope/1990488", "database": "IEDB", "categories": [ "Other" ] }, { "id": "2003440", "url": "https://www.iedb.org/epitope/2003440", "database": "IEDB", "categories": [ "Other" ] }, { "id": "2003789", "url": "https://www.iedb.org/epitope/2003789", "database": "IEDB", "categories": [ "Other" ] }, { "id": "2010403", "url": "https://www.iedb.org/epitope/2010403", "database": "IEDB", "categories": [ "Other" ] }, { "id": "2013015", "url": "https://www.iedb.org/epitope/2013015", "database": "IEDB", "categories": [ "Other" ] }, { "id": "2013514", "url": "https://www.iedb.org/epitope/2013514", "database": "IEDB", "categories": [ "Other" ] }, { "id": "2016723", "url": "https://www.iedb.org/epitope/2016723", "database": "IEDB", "categories": [ "Other" ] }, { "id": "2019769", "url": "https://www.iedb.org/epitope/2019769", "database": "IEDB", "categories": [ "Other" ] }, { "id": "2022036", "url": "https://www.iedb.org/epitope/2022036", "database": "IEDB", "categories": [ "Other" ] }, { "id": "2022671", "url": "https://www.iedb.org/epitope/2022671", "database": "IEDB", "categories": [ "Other" ] }, { "id": "2023647", "url": "https://www.iedb.org/epitope/2023647", "database": "IEDB", "categories": [ "Other" ] }, { "id": "2025548", "url": "https://www.iedb.org/epitope/2025548", "database": "IEDB", "categories": [ "Other" ] }, { "id": "2025550", "url": "https://www.iedb.org/epitope/2025550", "database": "IEDB", "categories": [ "Other" ] }, { "id": "2029775", "url": "https://www.iedb.org/epitope/2029775", "database": "IEDB", "categories": [ "Other" ] }, { "id": "2035483", "url": "https://www.iedb.org/epitope/2035483", "database": "IEDB", "categories": [ "Other" ] }, { "id": "2037532", "url": "https://www.iedb.org/epitope/2037532", "database": "IEDB", "categories": [ "Other" ] }, { "id": "2038148", "url": "https://www.iedb.org/epitope/2038148", "database": "IEDB", "categories": [ "Other" ] }, { "id": "2043041", "url": "https://www.iedb.org/epitope/2043041", "database": "IEDB", "categories": [ "Other" ] }, { "id": "2044230", "url": "https://www.iedb.org/epitope/2044230", "database": "IEDB", "categories": [ "Other" ] }, { "id": "2044795", "url": "https://www.iedb.org/epitope/2044795", "database": "IEDB", "categories": [ "Other" ] }, { "id": "2045334", "url": "https://www.iedb.org/epitope/2045334", "database": "IEDB", "categories": [ "Other" ] }, { "id": "2053004", "url": "https://www.iedb.org/epitope/2053004", "database": "IEDB", "categories": [ "Other" ] }, { "id": "2053690", "url": "https://www.iedb.org/epitope/2053690", "database": "IEDB", "categories": [ "Other" ] }, { "id": "2055268", "url": "https://www.iedb.org/epitope/2055268", "database": "IEDB", "categories": [ "Other" ] }, { "id": "2056309", "url": "https://www.iedb.org/epitope/2056309", "database": "IEDB", "categories": [ "Other" ] }, { "id": "2056770", "url": "https://www.iedb.org/epitope/2056770", "database": "IEDB", "categories": [ "Other" ] }, { "id": "2056797", "url": "https://www.iedb.org/epitope/2056797", "database": "IEDB", "categories": [ "Other" ] }, { "id": "2057007", "url": "https://www.iedb.org/epitope/2057007", "database": "IEDB", "categories": [ "Other" ] }, { "id": "2057037", "url": "https://www.iedb.org/epitope/2057037", "database": "IEDB", "categories": [ "Other" ] }, { "id": "2057162", "url": "https://www.iedb.org/epitope/2057162", "database": "IEDB", "categories": [ "Other" ] }, { "id": "2060068", "url": "https://www.iedb.org/epitope/2060068", "database": "IEDB", "categories": [ "Other" ] }, { "id": "2060586", "url": "https://www.iedb.org/epitope/2060586", "database": "IEDB", "categories": [ "Other" ] }, { "id": "444827", "url": "https://www.iedb.org/epitope/444827", "database": "IEDB", "categories": [ "Other" ] }, { "id": "493424", "url": "https://www.iedb.org/epitope/493424", "database": "IEDB", "categories": [ "Other" ] }, { "id": "544001", "url": "https://www.iedb.org/epitope/544001", "database": "IEDB", "categories": [ "Other" ] }, { "id": "651086", "url": "https://www.iedb.org/epitope/651086", "database": "IEDB", "categories": [ "Other" ] }, { "id": "651884", "url": "https://www.iedb.org/epitope/651884", "database": "IEDB", "categories": [ "Other" ] }, { "id": "763761", "url": "https://www.iedb.org/epitope/763761", "database": "IEDB", "categories": [ "Other" ] }, { "id": "766817", "url": "https://www.iedb.org/epitope/766817", "database": "IEDB", "categories": [ "Other" ] }, { "id": "864561", "url": "https://www.iedb.org/epitope/864561", "database": "IEDB", "categories": [ "Other" ] }, { "id": "929549", "url": "https://www.iedb.org/epitope/929549", "database": "IEDB", "categories": [ "Other" ] }, { "id": "958292", "url": "https://www.iedb.org/epitope/958292", "database": "IEDB", "categories": [ "Other" ] }, { "id": "B7ZBT8", "url": "https://www.ebi.ac.uk/intact/interactors/id:B7ZBT8*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "Q96QU1", "url": "https://www.ebi.ac.uk/intact/interactors/id:Q96QU1*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR002126", "url": "https://www.ebi.ac.uk/interpro/entry/IPR002126", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR015919", "url": "https://www.ebi.ac.uk/interpro/entry/IPR015919", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR020894", "url": "https://www.ebi.ac.uk/interpro/entry/IPR020894", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR030718", "url": "https://www.ebi.ac.uk/interpro/entry/IPR030718", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR041149", "url": "https://www.ebi.ac.uk/interpro/entry/IPR041149", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR050971", "url": "https://www.ebi.ac.uk/interpro/entry/IPR050971", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR056989", "url": "https://www.ebi.ac.uk/interpro/entry/IPR056989", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:65217", "url": "https://www.genome.jp/dbget-bin/www_bget?hsa:65217", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "276900", "url": "http://www.omim.org/entry/276900", "database": "MIM", "categories": [ "Other" ] }, { "id": "601067", "url": "http://www.omim.org/entry/601067", "database": "MIM", "categories": [ "Other" ] }, { "id": "602083", "url": "http://www.omim.org/entry/602083", "database": "MIM", "categories": [ "Other" ] }, { "id": "605514", "url": "http://www.omim.org/entry/605514", "database": "MIM", "categories": [ "Other" ] }, { "id": "609533", "url": "http://www.omim.org/entry/609533", "database": "MIM", "categories": [ "Other" ] }, { "id": "NNMANAK", "url": "https://omabrowser.org/oma/group/NNMANAK/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "A0A087WTR6", "url": "https://www.orthodb.org/?gene=A0A087WTR6", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "A0A087WUC7", "url": "https://www.orthodb.org/?gene=A0A087WUC7", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "A0A087WX70", "url": "https://www.orthodb.org/?gene=A0A087WX70", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "A0A087WXQ6", "url": "https://www.orthodb.org/?gene=A0A087WXQ6", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "A0A087WZN4", "url": "https://www.orthodb.org/?gene=A0A087WZN4", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "A0A087WZN9", "url": "https://www.orthodb.org/?gene=A0A087WZN9", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "A0A087X1T6", "url": "https://www.orthodb.org/?gene=A0A087X1T6", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "A0A2R8YEV2", "url": "https://www.orthodb.org/?gene=A0A2R8YEV2", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "A2A3D8", "url": "https://www.orthodb.org/?gene=A2A3D8", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "A2A3D9", "url": "https://www.orthodb.org/?gene=A2A3D9", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "A2A3E1", "url": "https://www.orthodb.org/?gene=A2A3E1", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "A2A3E4", "url": "https://www.orthodb.org/?gene=A2A3E4", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "A2A3E5", "url": "https://www.orthodb.org/?gene=A2A3E5", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "A2A3E6", "url": "https://www.orthodb.org/?gene=A2A3E6", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "A2A3E7", "url": "https://www.orthodb.org/?gene=A2A3E7", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "A2A3E8", "url": "https://www.orthodb.org/?gene=A2A3E8", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "A9Z1W1", "url": "https://www.orthodb.org/?gene=A9Z1W1", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "B7ZBT8", "url": "https://www.orthodb.org/?gene=B7ZBT8", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "E7EM53", "url": "https://www.orthodb.org/?gene=E7EM53", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "E7EM97", "url": "https://www.orthodb.org/?gene=E7EM97", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "E7EMG8", "url": "https://www.orthodb.org/?gene=E7EMG8", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "Q96QU1", "url": "https://www.orthodb.org/?gene=Q96QU1", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR24025", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR24025", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR24025:SF31", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR24025:SF31", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "pdb_00004xhz", "url": "https://www.rcsb.org/structure/pdb_00004xhz", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "pdb_00005t4m", "url": "https://www.rcsb.org/structure/pdb_00005t4m", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "pdb_00005t4n", "url": "https://www.rcsb.org/structure/pdb_00005t4n", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "pdb_00005uly", "url": "https://www.rcsb.org/structure/pdb_00005uly", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "pdb_00006e8f", "url": "https://www.rcsb.org/structure/pdb_00006e8f", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "pdb_00006eb5", "url": "https://www.rcsb.org/structure/pdb_00006eb5", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "pdb_00006mfo", "url": "https://www.rcsb.org/structure/pdb_00006mfo", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "pdb_00006n2e", "url": "https://www.rcsb.org/structure/pdb_00006n2e", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4XHZ", "url": "https://www.rcsb.org/structure/4XHZ", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5T4M", "url": "https://www.rcsb.org/structure/5T4M", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5T4N", "url": "https://www.rcsb.org/structure/5T4N", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5ULY", "url": "https://www.rcsb.org/structure/5ULY", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6E8F", "url": "https://www.rcsb.org/structure/6E8F", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6EB5", "url": "https://www.rcsb.org/structure/6EB5", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6MFO", "url": "https://www.rcsb.org/structure/6MFO", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6N2E", "url": "https://www.rcsb.org/structure/6N2E", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF00028", "url": "https://www.ebi.ac.uk/interpro/entry/pfam/PF00028", "database": "Pfam", "categories": [ "Other", "Protein Classification" ] }, { "id": "PF18432", "url": "https://www.ebi.ac.uk/interpro/entry/pfam/PF18432", "database": "Pfam", "categories": [ "Other", "Protein Classification" ] }, { "id": "PF23206", "url": "https://www.ebi.ac.uk/interpro/entry/pfam/PF23206", "database": "Pfam", "categories": [ "Other", "Protein Classification" ] }, { "id": "Q96QU1", "url": "https://pharos.nih.gov/targets/Q96QU1", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR:Q96QU1", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=PR:Q96QU1", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-9662360", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9662360", "database": "Reactome", "categories": [ "Enzyme and Pathway" ] }, { "id": "R-HSA-9662361", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9662361", "database": "Reactome", "categories": [ "Enzyme and Pathway" ] }, { "id": "NP_149045", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_149045", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "A0A087WTR6", "url": "https://www.uniprot.org/uniprotkb/A0A087WTR6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A087WTR6-1", "url": "https://www.uniprot.org/uniprotkb/A0A087WTR6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A087WUC7", "url": "https://www.uniprot.org/uniprotkb/A0A087WUC7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A087WUC7-1", "url": "https://www.uniprot.org/uniprotkb/A0A087WUC7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A087WX70", "url": "https://www.uniprot.org/uniprotkb/A0A087WX70", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A087WX70-1", "url": "https://www.uniprot.org/uniprotkb/A0A087WX70-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A087WXQ6", "url": "https://www.uniprot.org/uniprotkb/A0A087WXQ6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A087WXQ6-1", "url": "https://www.uniprot.org/uniprotkb/A0A087WXQ6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A087WZN4", "url": "https://www.uniprot.org/uniprotkb/A0A087WZN4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A087WZN4-1", "url": "https://www.uniprot.org/uniprotkb/A0A087WZN4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A087WZN9", "url": "https://www.uniprot.org/uniprotkb/A0A087WZN9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A087WZN9-1", "url": "https://www.uniprot.org/uniprotkb/A0A087WZN9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A087X1T6", "url": "https://www.uniprot.org/uniprotkb/A0A087X1T6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A087X1T6-1", "url": "https://www.uniprot.org/uniprotkb/A0A087X1T6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A2R8YEV2", "url": "https://www.uniprot.org/uniprotkb/A0A2R8YEV2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A2R8YEV2-1", "url": "https://www.uniprot.org/uniprotkb/A0A2R8YEV2-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A2A3D8", "url": "https://www.uniprot.org/uniprotkb/A2A3D8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A2A3D8-1", "url": "https://www.uniprot.org/uniprotkb/A2A3D8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A2A3D9", "url": "https://www.uniprot.org/uniprotkb/A2A3D9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A2A3D9-1", "url": "https://www.uniprot.org/uniprotkb/A2A3D9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A2A3E1", "url": "https://www.uniprot.org/uniprotkb/A2A3E1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A2A3E1-1", "url": "https://www.uniprot.org/uniprotkb/A2A3E1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A2A3E4", "url": "https://www.uniprot.org/uniprotkb/A2A3E4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A2A3E4-1", "url": "https://www.uniprot.org/uniprotkb/A2A3E4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A2A3E5", "url": "https://www.uniprot.org/uniprotkb/A2A3E5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A2A3E5-1", "url": "https://www.uniprot.org/uniprotkb/A2A3E5-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A2A3E6", "url": "https://www.uniprot.org/uniprotkb/A2A3E6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A2A3E6-1", "url": "https://www.uniprot.org/uniprotkb/A2A3E6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A2A3E7", "url": "https://www.uniprot.org/uniprotkb/A2A3E7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A2A3E7-1", "url": "https://www.uniprot.org/uniprotkb/A2A3E7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A2A3E8", "url": "https://www.uniprot.org/uniprotkb/A2A3E8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A2A3E8-1", "url": "https://www.uniprot.org/uniprotkb/A2A3E8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A9Z1W1", "url": "https://www.uniprot.org/uniprotkb/A9Z1W1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A9Z1W1-1", "url": "https://www.uniprot.org/uniprotkb/A9Z1W1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "B7ZBT8", "url": "https://www.uniprot.org/uniprotkb/B7ZBT8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "B7ZBT8-1", "url": "https://www.uniprot.org/uniprotkb/B7ZBT8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E7EM53", "url": "https://www.uniprot.org/uniprotkb/E7EM53", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E7EM53-1", "url": "https://www.uniprot.org/uniprotkb/E7EM53-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E7EM97", "url": "https://www.uniprot.org/uniprotkb/E7EM97", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E7EM97-1", "url": "https://www.uniprot.org/uniprotkb/E7EM97-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E7EMG8", "url": "https://www.uniprot.org/uniprotkb/E7EMG8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E7EMG8-1", "url": "https://www.uniprot.org/uniprotkb/E7EMG8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q96QU1", "url": "https://www.uniprot.org/uniprotkb/Q96QU1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q96QU1-1", "url": "https://www.uniprot.org/uniprotkb/Q96QU1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q96QU1-2", "url": "https://www.uniprot.org/uniprotkb/Q96QU1-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q96QU1-3", "url": "https://www.uniprot.org/uniprotkb/Q96QU1-3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q96QU1-4", "url": "https://www.uniprot.org/uniprotkb/Q96QU1-4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q96QU1-6", "url": "https://www.uniprot.org/uniprotkb/Q96QU1-6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q96QU1-7", "url": "https://www.uniprot.org/uniprotkb/Q96QU1-7", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MFRQFYLWTCLASGIILGSLFEICLGQYDDDCKLARGGPPATIVAIDEESRNGTILVDNMLIKGTAGGPDPTIELSLKDNVDYWVLMDPVKQMLFLNSTGRVLDRDPPMNIHSIVVQVQCINKKVGTIIYHEVRIVVRDRNDNSPTFKHESYYATVNELTPVGTTIFTGFSGDNGATDIDDGPNGQIEYVIQYNPDDPTSNDTFEIPLMLTGNIVLRKRLNYEDKTRYFVIIQANDRAQNLNERRTTTTTLTVDVLDGDDLGPMFLPCVLVPNTRDCRPLTYQAAIPELRTPEELNPIIVTPPIQAIDQDRNIQPPSDRPGILYSILVGTPEDYPRFFHMHPRTAELSLLEPVNRDFHQKFDLVIKAEQDNGHPLPAFAGLHIEILDENNQSPYFTMPSYQGYILESAPVGATISDSLNLTSPLRIVALDKDIEDTKDPELHLFLNDYTSVFTVTQTGITRYLTLLQPVDREEQQTYTFSITAFDGVQESEPVIVNIQVMDANDNTPTFPEISYDVYVYTDMRPGDSVIQLTAVDADEGSNGEITYEILVGAQGDFIINKTTGLITIAPGVEMIVGRTYALTVQAADNAPPAERRNSICTVYIEVLPPNNQSPPRFPQLMYSLEISEAMRVGAVLLNLQATDREGDSITYAIENGDPQRVFNLSETTGILTLGKALDRESTDRYILIITASDGRPDGTSTATVNIVVTDVNDNAPVFDPYLPRNLSVVEEEANAFVGQVKATDPDAGINGQVHYSLGNFNNLFRITSNGSIYTAVKLNREVRDYYELVVVATDGAVHPRHSTLTLAIKVLDIDDNSPVFTNSTYTVLVEENLPAGTTILQIEAKDVDLGANVSYRIRSPEVKHFFALHPFTGELSLLRSLDYEAFPDQEASITFLVEAFDIYGTMPPGIATVTVIVKDMNDYPPVFSKRIYKGMVAPDAVKGTPITTVYAEDADPPGLPASRVRYRVDDVQFPYPASIFEVEEDSGRVITRVNLNEEPTTIFKLVVVAFDDGEPVMSSSATVKILVLHPGEIPRFTQEEYRPPPVSELATKGTMVGVISAAAINQSIVYSIVSGNEEDTFGINNITGVIYVNGPLDYETRTSYVLRVQADSLEVVLANLRVPSKSNTAKVYIEIQDENNHPPVFQKKFYIGGVSEDARMFTSVLRVKATDKDTGNYSVMAYRLIIPPIKEGKEGFVVETYTGLIKTAMLFHNMRRSYFKFQVIATDDYGKGLSGKADVLVSVVNQLDMQVIVSNVPPTLVEKKIEDLTEILDRYVQEQIPGAKVVVESIGARRHGDAFSLEDYTKCDLTVYAIDPQTNRAIDRNELFKFLDGKLLDINKDFQPYYGEGGRILEIRTPEAVTSIKKRGESLGYTEGALLALAFIIILCCIPAILVVLVSYRQFKVRQAECTKTARIQAALPAAKPAVPAPAPVAAPPPPPPPPPGAHLYEELGDSSILFLLYHFQQSRGNNSVSEDRKHQQVVMPFSSNTIEAHKSAHVDGSLKSNKLKSARKFTFLSDEDDLSAHNPLYKENISQVSTNSDISQRTDFVDPFSPKIQAKSKSLRGPREKIQRLWSQSVSLPRRLMRKVPNRPEIIDLQQWQGTRQKAENENTGICTNKRGSSNPLLTTEEANLTEKEEIRQGETLMIEGTEQLKSLSSDSSFCFPRPHFSFSTLPTVSRTVELKSEPNVISSPAECSLELSPSRPCVLHSSLSRRETPICMLPIETERNIFENFAHPPNISPSACPLPPPPPISPPSPPPAPAPLAPPPDISPFSLFCPPPSPPSIPLPLPPPTFFPLSVSTSGPPTPPLLPPFPTPLPPPPPSIPCPPPPSASFLSTECVCITGVKCTTNLMPAEKIKSSMTQLSTTTVCKTDPQREPKGILRHVKNLAELEKSVANMYSQIEKNYLRTNVSELQTMCPSEVTNMEITSEQNKGSLNNIVEGTEKQSHSQSTSL", "length": 1955, "header": "sp|Q96QU1-1|PCD15_HUMAN Isoform 1 of Protocadherin-15 OS=Homo sapiens OX=9606 GN=PCDH15 PE=1 SV=2 CANONICAL=Q96QU1-1" }, "isoforms": [ { "isoform_ac": "A0A087WTR6-1", "url": "https://www.uniprot.org/uniprotkb/Q96QU1/entry#A0A087WTR6-1", "sequence": { "sequence": "MFRQFYLWTCLASGIILGSLFEICLGQYDDDCKLARGGPPATIVAIDEESRNGTILVDNMLIKGTAGGPDPTIELSLKDNVDYWVLMDPVKQMLFLNSTGRVLDRDPPMNIHSIVVQVQCINKKVGTIIYHEVRIVVRDRNDNSPTFKHESYYATVNELTPVGTTIFTGFSGDNGATDIDDGPNGQIEYVIQYNPDDPTSNDTFEIPLMLTGNIVLRKRLNYEDKTRYFVIIQANDRAQNLNERRTTTTTLTVDVLDGDDLGPMFLPCVLVPNTRDCRPLTYQAAIPELRTPEELNPIIVTPPIQAIDQDRNIQPPSDRPGILYSILVGTPEDYPRFFHMHPRTAELSLLEPVNRDFHQKFDLVIKAEQDNGHPLPAFAGLHIEILDENNQSPYFTMPSYQGYILESAPVGATISDSLNLTSPLRIVALDKDIEDTKDPELHLFLNDYTSVFTVTQTGITRYLTLLQPVDREEQQTYTFSITAFDGVQESEPVIVNIQVMDANDNTPTFPEISYDVYVYTDMRPGDSVIQLTAVDADEGSNGEITYEILVGAQGDFIINKTTGLITIAPGVEMIVGRTYALTVQAADNAPPAERRNSICTVYIEVLPPNNQSPPRFPQLMYSLEISEAMRVGAVLLNLQATDREGDSITYAIENGDPQRVFNLSETTGILTLGKALDRESTDRYILIITASDGRPDGTSTATVNIVVTDVNDNAPVFDPYLPRNLSVVEEEANAFVGQVKATDPDAGINGQVHYSLGNFNNLFRITSNGSIYTAVKLNREVRDYYELVVVATDGAVHPRHSTLTLAIKVLDIDDNSPVFTNSTYTVLVEENLPAGTTILQIEAKDVDLGANVSYRIRSPEVKHFFALHPFTGELSLLRSLDYEAFPDQEASITFLVEAFDIYGTMPPGIATVTVIVKDMNDYPPVFSKRIYKGMVAPDAVKGTPITTVYAEDADPPGLPASRVRYRVDDVQFPYPASIFEVEEDSGRVITRVNLNEEPTTIFKLVVVAFDDGEPVMSSSATVKILVLHPGEIPRFTQEEYRPPPVSELATKGTMVGVISAAAINQSIVYSIVSGNEEDTFGINNITGVIYVNGPLDYETRTSYVLRVQADSLEVVLANLRVPSKSNTAKVYIEIQDENNHPPVFQKKFYIGGVSEDARMFTSVLRVKATDKDTGNYSVMAYRLIIPPIKEGKEGFVVETYTGLIKTAMLFHNMRRSYFKFQVIATDDYGKGLSGKADVLVSVVNQLDMQVIVSNVPPTLVEKKIEDLTEILDRYVQEQIPGAKVVVESIGARRHGDAFSLEDYTKCDLTVYAIDPQTNRAIDRNELFKFLDGKLLDINKDFQPYYGEGGRILEIRTPEAVTSIKKRGESLGYTEGALLALAFIIILCCIPAILVVLVSYRQFKVRQAECTKTARIQAALPAAKPAVPAPAPVAAPPPPPPPPPGAHLYEELGDSSMHKNYPWSLELILARNMDKIITVMSMGMKCLNMGVAVDCYHQLDRRNMVRWLVKLRKNMRRKRKSQRKLKNQRLKLESLVRRKK", "length": 1539, "header": "tr|A0A087WTR6-1|A0A087WTR6_HUMAN Computationally mapped isoform of Protocadherin-15 OS=Homo sapiens OX=9606 GN=PCDH15 PE=1 SV=1 CANONICAL=Q96QU1-1" }, "locus": { "chromosome": "10", "start_pos": 54664262, "end_pos": 53809483, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000617271.4", "url": "https://www.ensembl.org/id/ENST00000617271.4" }, { "database": "Ensembl Peptide", "id": "ENSP00000478076.1", "url": "https://www.ensembl.org/id/ENSP00000478076.1" } ] } }, { "isoform_ac": "A0A087WUC7-1", "url": "https://www.uniprot.org/uniprotkb/Q96QU1/entry#A0A087WUC7-1", "sequence": { "sequence": "XMKCLNMGVAVDCYHQLDRRNMVRWLVKLRKNMRRKR", "length": 37, "header": "tr|A0A087WUC7-1|A0A087WUC7_HUMAN Computationally mapped isoform of Protocadherin related 15 OS=Homo sapiens OX=9606 GN=PCDH15 PE=4 SV=1 CANONICAL=Q96QU1-1" }, "locus": { "chromosome": "10", "start_pos": 53810664, "end_pos": 53810554, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000615043.1", "url": "https://www.ensembl.org/id/ENST00000615043.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000478551.1", "url": "https://www.ensembl.org/id/ENSP00000478551.1" } ] } }, { "isoform_ac": "A0A087WX70-1", "url": "https://www.uniprot.org/uniprotkb/Q96QU1/entry#A0A087WX70-1", "sequence": { "sequence": "MQVIVSNVPPTLVEKKIEDLTEILDRYVQEQIPGAKVVVESIGARRHGDAFSLEDYTKCDLTVYAIDPQTNRAIDRNELFKFLDGKLLDINKDFQPYYGEGGRILEIRTPEAVTSIKKRGESLGYTEGALLALAFIIILCCIPAILVVLVSYRQRGYGSEQQQLLRPSLLKPEELSMESGIDPGQEYGQDYYSYEHGYEMPQYGSRRRLLPPAGQEEYGEVVGEAEEEYEEEEWARKRMIKLVVDREYETSSTGEDSAPECQRNRLHHPSIHSNINGNIYIAQNGSVVRTRRACLTDNLKVASPVRLGGPFKKLDKLAVTHEENVPLNTLSKGPFSTEKMNARPTLVTFAPCPVGTDNTAVKPLRNRLKSTVEQESMIDSKNIKEALEFHSDHTQSDDEELWMGPWNNLHIPMTKL", "length": 416, "header": "tr|A0A087WX70-1|A0A087WX70_HUMAN Computationally mapped isoform of Protocadherin related 15 OS=Homo sapiens OX=9606 GN=PCDH15 PE=1 SV=1 CANONICAL=Q96QU1-1" }, "locus": { "chromosome": "10", "start_pos": 53857239, "end_pos": 53806582, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000495484.5", "url": "https://www.ensembl.org/id/ENST00000495484.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000480780.1", "url": "https://www.ensembl.org/id/ENSP00000480780.1" } ] } }, { "isoform_ac": "A0A087WXQ6-1", "url": "https://www.uniprot.org/uniprotkb/Q96QU1/entry#A0A087WXQ6-1", "sequence": { "sequence": "MFRQFYLWTCLASGIILGSLFEICLGQYDDGTILVDNMLIKGTAGGPDPTIELSLKDNVDYWVLMDPVKQML", "length": 72, "header": "tr|A0A087WXQ6-1|A0A087WXQ6_HUMAN Computationally mapped isoform of Protocadherin related 15 OS=Homo sapiens OX=9606 GN=PCDH15 PE=1 SV=1 CANONICAL=Q96QU1-1" }, "locus": { "chromosome": "10", "start_pos": 54664262, "end_pos": 54378818, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000613346.4", "url": "https://www.ensembl.org/id/ENST00000613346.4" }, { "database": "Ensembl Peptide", "id": "ENSP00000481211.1", "url": "https://www.ensembl.org/id/ENSP00000481211.1" } ] } }, { "isoform_ac": "A0A087WZN4-1", "url": "https://www.uniprot.org/uniprotkb/Q96QU1/entry#A0A087WZN4-1", "sequence": { "sequence": "LVEKKIEDLTEILDRYVQEQIPGAKVVVESIGARRHGDAFSLEDYTKCDLTVYAIDPQTNRAIDRNELFKFLDGKLLDINKDFQPYYGEGGRILEIRTPEAVTSIKKRGESLGYTEGALLALAFIIILCCIPAILVVLVSYRQFKVRQAECTKTARIQAALPAAKPAVPAPAPVAAPPPPPPPPPGAHLYEELGDSSMRGYGSEQQQLLRPSLLKPEELSMESGIDPGQEYGQDYYSYEHGYEMPQYGSRRRLLPPAGQEEYGEVVGEAEEEYEEEEWARKRMIKLVVDREYETSSTGEDSAPECQRNRLHHPSIHSNINGNIYIAQNGSVVRTRRACLTDNLKVASPVRLGGPFKKLDKLAVTHEENVPLNTLSKGPFSTEKMNARPTLVTFAPCPVGTDNTAVKPLRNRLKSTVEQESMIDSKNIKEALEFHSDHTQSDDEELWMGPWNNLHIPMTKL", "length": 460, "header": "tr|A0A087WZN4-1|A0A087WZN4_HUMAN Computationally mapped isoform of Protocadherin related 15 OS=Homo sapiens OX=9606 GN=PCDH15 PE=1 SV=1 CANONICAL=Q96QU1-1" }, "locus": { "chromosome": "10", "start_pos": 53857206, "end_pos": 53806582, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000618301.4", "url": "https://www.ensembl.org/id/ENST00000618301.4" }, { "database": "Ensembl Peptide", "id": "ENSP00000482780.1", "url": "https://www.ensembl.org/id/ENSP00000482780.1" } ] } }, { "isoform_ac": "A0A087WZN9-1", "url": "https://www.uniprot.org/uniprotkb/Q96QU1/entry#A0A087WZN9-1", "sequence": { "sequence": "MFRQFYLWTCLASGIILGSLFEICLGQYDDDWQYEDCKLARGGPPATIVAIDEESRNGTILVDNMLIKGTAGGPDPTIELSLKDNVDYWVLMDPVKQMLFLNSTGRVLDRDPPMNIHSIVVQVQCINKKVGTIIYHEVRIVVRDRNDNSPTFKHESYYATVNELTPVGTTIFTGFSGDNGATDIDDGPNGQIEYVIQYNPDDPTSNDTFEIPLMLTGNIVLRKRLNYEDKTRYFVIIQANDRAQNLNERRTTTTTLTVDVLDGDDLGPMFLPCVLVPNTRDCRPLTYQAAIPELRTPEELNPIIVTPPIQAIDQDRNIQPPSDRPGILYSILVGTPEDYPRFFHMHPRTAELSLLEPVNRDFHQKFDLVIKAEQDNGHPLPAFAGLHIEILDENNQSPYFTMPSYQGYILESAPVGATISDSLNLTSPLRIVALDKDIEDVPPSGVPTKDPELHLFLNDYTSVFTVTQTGITRYLTLLQPVDREEQQTYTFSITAFDGVQESEPVIVNIQVMDANDNTPTFPEISYDVYVYTDMRPGDSVIQLTAVDADEGSNGEITYEILVGAQGDFIINKTTGLITIAPGVEMIVGRTYALTVQAADNAPPAERRNSICTVYIEVLPPNNQSPPRFPQLMYSLEISEAMRVGAVLLNLQATDREGDSITYAIENGDPQRVFNLSETTGILTLGKALDRESTDRYILIITASDGRPDGTSTATVNIVVTDVNDNAPVFDPYLPRNLSVVEEEANAFVGQVKATDPDAGINGQVHYSLGNFNNLFRITSNGSIYTAVKLNREVRDYYELVVVATDGAVHPRHSTLTLAIKVLDIDDNSPVFTNSTYTVLVEENLPAGTTILQIEAKDVDLGANVSYRIRSPEVKHFFALHPFTGELSLLRSLDYEAFPDQEASITFLVEAFDIYGTMPPGIATVTVIVKDMNDYPPVFSKRIYKGMVAPDAVKGTPITTVYAEDADPPGLPASRVRYRVDDVQFPYPASIFEVEEDSGRVITRVNLNEEPTTIFKLVVVAFDDGEPVMSSSATVKILVLHPGEIPRFTQEEYRPPPVSELATKGTMVGVISAAAINQSIVYSIVSGNEEDTFGINNITGVIYVNGPLDYETRTSYVLRVQADSLEVVLANLRVPSKSNTAKVYIEIQDENNHPPVFQKKFYIGGVSEDARMFTSVLRVKATDKDTGNYSVMAYRLIIPPIKEGKEGFVVETYTGLIKTAMLFHNMRRSYFKFQVIATDDYGKGLSGKADVLVSVVNQLDMQVIVSNVPPTLVEKKIEDLTEILDRYVQEQIPGAKVVVESIGARRHGDAFSLEDYTKCDLTVYAIDPQTNRAIDRNELFKFLDGKLLDINKDFQPYYGEGGRILEIRTPEAVTSIKKRGESLGYTEGALLALAFIIILCCIPAILVVLVSYRQFKVRQAECTKTARIQAALPAAKPAVPAPAPVAAPPPPPPPPPGAHLYEELGDSSMHKYEMPQYGSRRRLLPPAGQEEYGEVVGEAEEEYEEEEEEPKKIKKPKVEIREPSEEEEVVVTIEKPPAAEPTYTTWKRARIFPMIFKKVRGLADKRGIVDLEGEEWQRRLEEEDKDYLKLTLDQEEATESTVESEEESSSDYTEYSEEESEFSESETTEEESESETPSEEEESSTPESEESESTESEGEKARKNIVLARRRPMVEEVKEVKGRKEEPQEEQKEPKMEEEEHSEEEESGPAPVEESTDPEAQDIPEEGSAESASVEGGVESEEESESGSSSSSSESQSGGPWGYQVPAYDRSKNANQKKSPGANSEGYNTAL", "length": 1790, "header": "tr|A0A087WZN9-1|A0A087WZN9_HUMAN Computationally mapped isoform of Protocadherin-15 OS=Homo sapiens OX=9606 GN=PCDH15 PE=1 SV=1 CANONICAL=Q96QU1-1" }, "locus": { "chromosome": "10", "start_pos": 54664262, "end_pos": 53808695, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000613657.6", "url": "https://www.ensembl.org/id/ENST00000613657.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000482794.1", "url": "https://www.ensembl.org/id/ENSP00000482794.1" } ] } }, { "isoform_ac": "A0A087X1T6-1", "url": "https://www.uniprot.org/uniprotkb/Q96QU1/entry#A0A087X1T6-1", "sequence": { "sequence": "MFRQFYLWTCLASGIILGSLFEICLGQYDDDWQYEDCKLARGGPPATIVAIDEESRNGTILVDNMLIKGTAGGPDPTIELSLKDNVDYWVLMDPVKQMLFLNSTGRVLDRDPPMNIHSIVVQVQCINKKVGTIIYHEVRIVVRDRNDNSPTFKHESYYATVNELTPVGTTIFTGFSGDNGATDIDDGPNGQIEYVIQYNPDDPTSNDTFEIPLMLTGNIVLRKRLNYEDKTRYFVIIQANDRAQNLNERRTTTTTLTVDVLDGDDLGPMFLPCVLVPNTRDCRPLTYQAAIPELRTPEELNPIIVTPPIQAIDQDRNIQPPSDRPGILYSILVGTPEDYPRFFHMHPRTAELSLLEPVNRDFHQKFDLVIKAEQDNGHPLPAFAGLHIEILDENNQSPYFTMPSYQGYILESAPVGATISDSLNLTSPLRIVALDKDIEDTKDPELHLFLNDYTSVFTVTQTGITRYLTLLQPVDREEQQTYTFSITAFDGVQESEPVIVNIQVMDANDNTPTFPEISYDVYVYTDMRPGDSVIQLTAVDADEGSNGEITYEILVGAQGDFIINKTTGLITIAPGVEMIVGRTYALTVQAADNAPPAERRNSICTVYIEVLPPNNQSPPRFPQLMYSLEISEAMRVGAVLLNLQATDREGDSITYAIENGDPQRVFNLSETTGILTLGKALDRESTDRYILIITASDGRPDGTSTATVNIVVTDVNDNAPVFDPYLPRNLSVVEEEANAFVGQVKATDPDAGINGQVHYSLGNFNNLFRITSNGSIYTAVKLNREVRDYYELVVVATDGAVHPRHSTLTLAIKVLDIDDNSPVFTNSTYTVLVEENLPAGTTILQIEAKDVDLGANVSYRIRSPEVKHFFALHPFTGELSLLRSLDYEAFPDQEASITFLVEAFDIYGTMPPGIATVTVIVKDMNDYPPVFSKRIYKGMVAPDAVKGTPITTVYAEDADPPGLPASRVRYRVDDVQFPYPASIFEVEEDSGRVITRVNLNEEPTTIFKLVVVAFDDGEPVMSSSATVKILVLHPGEIPRFTQEEYRPPPVSELATKGTMVGVISAAAINQSIVYSIVSGNEEDTFGINNITGVIYVNGPLDYETRTSYVLRVQADSLEVVLANLRVPSKSNTAKVYIEIQDENNHPPVFQKKFYIGGVSEDARMFTSVLRVKATDKDTGNYSVMAYRLIIPPIKEGKEGFVVETYTGLIKTAMLFHNMRRSYFKFQVIATDDYGKGLSGKADVLVSVVNQLDMQVIVSNVPPTLVEKKIEDLTEILDRYVQEQIPGAKVVVESIGARRHGDAFSLEDYTKCDLTVYAIDPQTNRAIDRNELFKFLDGKLLDINKDFQPYYGEGGRILEIRTPEAVTSIKKRGESLGYTEGALLALAFIIILCCIPAILVVLVSYRQFKVRQAECTKTARIQAALPAAKPAVPAPAPVAAPPPPPPPPPGAHLYEELGDSSMHKYEMPQYGSRRRLLPPAGQEEYGEVVGEAEEEYEEEEWARKRMIKLVVDREYETSSTGEDSAPECQRNRLHHPSIHSNINGNIYIAQNGSVVRTRRACLTDNLKVASPVRLGGPFKKLDKLAVTHEENVPLNTLSKGPFSTEKMNARPTLVTFAPCPVGTDNTAVKPLRNRLKSTVEQESMIDSKNIKEALEFHSDHTQSDDEELWMGPWNNLHIPMTKL", "length": 1682, "header": "tr|A0A087X1T6-1|A0A087X1T6_HUMAN Computationally mapped isoform of Protocadherin-15 OS=Homo sapiens OX=9606 GN=PCDH15 PE=1 SV=1 CANONICAL=Q96QU1-1" }, "locus": { "chromosome": "10", "start_pos": 54664262, "end_pos": 53806582, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000621708.4", "url": "https://www.ensembl.org/id/ENST00000621708.4" }, { "database": "Ensembl Peptide", "id": "ENSP00000484454.1", "url": "https://www.ensembl.org/id/ENSP00000484454.1" } ] } }, { "isoform_ac": "A0A2R8YEV2-1", "url": "https://www.uniprot.org/uniprotkb/Q96QU1/entry#A0A2R8YEV2-1", "sequence": { "sequence": "XHIEILDENNQSPYFTMPSYQGYILESAPVGATISDSLNLTSPLRIVALDKDIEDTKDPELHLFLNDYTSVFTVTQTGITRYLTLLQPVDREEQQTYTFSITAFDGVQESEPVIVNIQVMDANDNTPTFPEISYDVYVYTDMRPGDSVIQLTAVDADEGSNGEITYEILVGAQGDFIINKTTGLITIAPGVEMIVGRTYALTVQAADNAPPAERRNSICTVYIEVLPPNNQSPPRFPQLMYSLEISEAMRVGAVLLNLQATDREGDSITYAIENGDPQRVFNLSETTGILTLGKALDRESTDRYILIITASDGRPDGTSTATVNIVVTDVNDNAPVFDPYLPRNLSVVEEEANAFVGQVKATDPDAGINGQVHYSLGNFNNLFRITSNGSIYTAVKLNREVRDYYELVVVATDGAVHPRHSTLTLAIKVLDIDDNSPVFTNSTYTVLVEENLPAGTTILQIEAKDVDLGANVSYRIRSPEVKHFFALHPFTGELSLLRSLDYEAFPDQEASITFLVEAFDIYGTMPPGIATVTVIVKDMNDYPPVFSKRIYKGMVAPDAVKGTPITTVYAEDADPPGLPASRVRYRVDDVQFPYPASIFEVEEDSGRVITRVNLNEEPTTIFKLVVVAFDDGEPVMSSSATVKILVLHPGEIPRFTQEEYRPPPVSELATKGTMVGVISAAAINQSIVYSIVSGNEEDTFGINNITGVIYVNGPLDYETRTSYVLRVQADSLEVVLANLRVPSKSNTAKVYIEIQDENNHPPVFQKKFYIGGVSEDARMFTSVLRVKATDKDTGNYSVMAYRLIIPPIKEGKEGFVVETYTGLIKTAMLFHNMRRSYFKFQVIATDDYGKGLSGKADVLVSVVNQLDMQVIVSNVPPTLVEKKIEDLTEILDRYVQEQIPGAKVVVESIGARRHGDAFSLEDYTKCDLTVYAIDPQTNRAIDRNELFKFLDGKLLDINKDFQPYYGEGGRILEIRTPEAVTSIKKRGESLGYTEGALLALAFIIILCCIPAILVVLVSYRQFKVRQAECTKTARIQAALPAAKPAVPAPAPVAAPPPPPPPPPGAHLYEELGDSSIWSFCWQLVICMRTCAIWRTLTRRGYGSEQQQLLRPSLLKPEELSMESGIDPGQEYGQDYYSYEHGYEMPQYGSRRRLLPPAGQEEYGEVVGEAEEEYEEEEWARKRMIKLVVDREYETSSTGEDSAPECQRNRLHHPSIHSNINGNIYIAQNGSVVRTRRACLTDNLKVASPVRLGGPFKKLDKLAVTHEENVPLNTLSKGPFSTEKMNARPTLVTFAPCPVGTDNTAVKPLRNRLKSTVEQESMIDSKNIKEALEFHSDHTQSDDEELWMGPWNNLHIPMTKL", "length": 1360, "header": "tr|A0A2R8YEV2-1|A0A2R8YEV2_HUMAN Computationally mapped isoform of Protocadherin related 15 OS=Homo sapiens OX=9606 GN=PCDH15 PE=1 SV=1 CANONICAL=Q96QU1-1" }, "locus": { "chromosome": "10", "start_pos": 54195846, "end_pos": 53806581, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000642496.1", "url": "https://www.ensembl.org/id/ENST00000642496.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000495930.1", "url": "https://www.ensembl.org/id/ENSP00000495930.1" } ] } }, { "isoform_ac": "A2A3D8-1", "url": "https://www.uniprot.org/uniprotkb/Q96QU1/entry#A2A3D8-1", "sequence": { "sequence": "MFRQFYLWTCLASGIILGSLFEICLGQYDDDWQYEDCKLARGGPPATIVAIDEESRNGTILVDNMLIKGTAGGPDPTIELSLKDNVDYWVLMDPVKQMLFLNSTGRVLDRDPPMNIHSIVVQVQCINKKVGTIIYHEVRIVVRDRNDNSPTFKHESYYATVNELTPVGTTIFTGFSGDNGATDIDDGPNGQIEYVIQYNPDDPTSNDTFEIPLMLTGNIVLRKRLNYEDKTRYFVIIQANDRAQNLNERRTTTTTLTVDVLDGDDLGPMFLPCVLVPNTRDCRPLTYQAAIPELRTPEELNPIIVTPPIQAIDQDRNIQPPSDRPGILYSILVGTPEDYPRFFHMHPRTAELSLLEPVNRDFHQKFDLVIKAEQDNGHPLPAFAGLHIEILDENNQSPYFTMPSYQGYILESAPVGATISDSLNLTSPLRIVALDKDIEDTKDPELHLFLNDYTSVFTVTQTGITRYLTLLQPVDREEQQTYTFSITAFDGVQESEPVIVNIQVMDANDNTPTFPEISYDVYVYTDMRPGDSVIQLTAVDADEGSNGEITYEILVGAQGDFIINKTTGLITIAPGVEMIVGRTYALTVQAADNAPPAERRNSICTVYIEVLPPNNQSPPRFPQLMYSLEISEAMRVGAVLLNLQATDREGDSITYAIENGDPQRVFNLSETTGILTLGKALDRESTDRYILIITASDGRPDGTSTATVNIVVTDVNDNAPVFDPYLPRNLSVVEEEANAFVGQVKATDPDAGINGQVHYSLGNFNNLFRITSNGSIYTAVKLNREVRDYYELVVVATDGAVHPRHSTLTLAIKVLDIDDNSPVFTNSTYTVLVEENLPAGTTILQIEAKDVDLGANVSYRIRSPEVKHFFALHPFTGELSLLRSLDYEAFPDQEASITFLVEAFDIYGTMPPGIATVTVIVKDMNDYPPVFSKRIYKGMVAPDAVKGTPITTVYAEDADPPGLPASRVRYRVDDVQFPYPASIFEVEEDSGRVITRVNLNEEPTTIFKLVVVAFDDGEPVMSSSATVKILVLHPGEIPRFTQEEYRPPPVSELATKGTMVGVISAAAINQSIVYSIVSGNEEDTFGINNITGVIYVNGPLDYETRTSYVLRVQADSLEVVLANLRVPSKSNTAKVYIEIQDENNHPPVFQKKFYIGGVSEDARMFTSVLRVKATDKDTGNYSVMAYRLIIPPIKEGKEGFVVETYTGLIKTAMLFHNMRRSYFKFQVIATDDYGKGLSGKADVLVSVVNQLDMQVIVSNVPPTLVEKKIEDLTEILDRYVQEQIPGAKVVVESIGARRHGDAFSLEDYTKCDLTVYAIDPQTNRAIDRNELFKFLDGKLLDINKDFQPYYGEGGRILEIRTPEAVTSIKKRGESLGYTEGALLALAFIIILCCIPAILVVLVSYRQFKVRQAECTKTARIQAALPAAKPAVPAPAPVAAPPPPPPPPPGAHLYEELGDSSMHNLFLLYHFQQSRGNNSVSEDRKHQQVVMPFSSNTIEAHKSAHVDGSLKSNKLKSARKFTFLSDEDDLSAHNPLYKENISQVSTNSDISQRTDFVDPFSPKIQAKSKSLRGPREKIQRLWSQSVSLPRRLMRKVPNRPEIIDLQQWQGTRQKAENENTGICTNKRGSSNPLLTTEEANLTEKEEIRQGETLMIEGTEQLKSLSSDSSFCFPRPHFSFSTLPTVSRTVELKSEPNVISSPAECSLELSPSRPCVLHSSLSRRETPICMLPIETERNIFENFAHPPNISPSACPLPPPPPISPPSPPPAPAPLAPPPDISPFSLFCPPPSPPSIPLPLPPPTFFPLSVSTSGPPTPPLLPPFPTPLPPPPPSIPCPPPPSASFLSTECVCITGVKCTTNLMPAEKIKSSMTQLSTTTVCKTDPQREPKGILRHVKNLAELEKSVANMYSQIEKNYLRTNVSELQTMCPSEVTNMEITSEQNKGSLNNIVEGTEKQSHSQSTSL", "length": 1962, "header": "tr|A2A3D8-1|A2A3D8_HUMAN Computationally mapped isoform of Protocadherin-15 OS=Homo sapiens OX=9606 GN=PCDH15 PE=1 SV=3 CANONICAL=Q96QU1-1" }, "locus": { "chromosome": "10", "start_pos": 54664262, "end_pos": 53821861, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000373957.7", "url": "https://www.ensembl.org/id/ENST00000373957.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000363068.4", "url": "https://www.ensembl.org/id/ENSP00000363068.4" } ] } }, { "isoform_ac": "A2A3D9-1", "url": "https://www.uniprot.org/uniprotkb/Q96QU1/entry#A2A3D9-1", "sequence": { "sequence": "MFRQFYLWTCLASGIILGSLFEICLGQYDDDCKLARGGPPATIVAIDEESRNGTILVDNMLIKGTAGGPDPTIELSLKDNVDYWVLMDPVKQ", "length": 92, "header": "tr|A2A3D9-1|A2A3D9_HUMAN Computationally mapped isoform of Protocadherin related 15 OS=Homo sapiens OX=9606 GN=PCDH15 PE=1 SV=1 CANONICAL=Q96QU1-1" }, "locus": { "chromosome": "10", "start_pos": 54664262, "end_pos": 54378824, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000458638.1", "url": "https://www.ensembl.org/id/ENST00000458638.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000394465.1", "url": "https://www.ensembl.org/id/ENSP00000394465.1" } ] } }, { "isoform_ac": "A2A3E1-1", "url": "https://www.uniprot.org/uniprotkb/Q96QU1/entry#A2A3E1-1", "sequence": { "sequence": "MFRQFYLWTCLASGIILGSLFEICLGQYDDDCKLARGGPPATIVAIDEESRNGTILVDNMLIKGTAGGPDPTIELSLKDNVDYWVLMDPVKQMLFLNSTGRVLDRDPPMNIHSIVVQVQCINKKVGTIIYHEVRIVVRDRNDNSPTFKHESYYATVNELTPVGTTIFTGFSGDNGATDIDDGPNGQIEYVIQYNPDDPTSNDTFEIPLMLTGNIVLRKRLNYEDKTRYFVIIQANDRAQNLNERRTTTTTLTVDVLDGDDLGPMFLPCVLVPNTRDCRPLTYQAAIPELRTPEELNPIIVTPPIQAIDQDRNIQPPSDRPGILYSILVGTPEDYPRFFHMHPRTAELSLLEPVNRDFHQKFDLVIKEEPKKIKKPKVEIREPSEEEEVVVTIEKPPAAEPTYTTWKRARIFPMIFKKVRGLADKRGIVDLEGEEWQRRLEEEDKDYLKLTLDQEEATESTVESEEESSSDYTEYSEEESEFSESETTEEESESETPSEEEESSTPESEESESTESEGEKARKNIVLARRRPMVEEVKEVKGRKEEPQEEQKEPKMEEEEHSEEEESGPAPVEESTDPEAQDIPEEGSAESASVEGGVESEEESESGSSSSSSESQSGGPWGYQVPAYDRSKNANQKKSPGANSEGYNTAL", "length": 650, "header": "tr|A2A3E1-1|A2A3E1_HUMAN Computationally mapped isoform of Protocadherin-15 OS=Homo sapiens OX=9606 GN=PCDH15 PE=1 SV=1 CANONICAL=Q96QU1-1" }, "locus": { "chromosome": "10", "start_pos": 54664262, "end_pos": 53808695, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000395442.5", "url": "https://www.ensembl.org/id/ENST00000395442.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000378829.1", "url": "https://www.ensembl.org/id/ENSP00000378829.1" } ] } }, { "isoform_ac": "A2A3E4-1", "url": "https://www.uniprot.org/uniprotkb/Q96QU1/entry#A2A3E4-1", "sequence": { "sequence": "MFRQFYLWTCLASGIILGSLFEICLGQYDDDCKLARGGPPATIVAIDEESRNGTILVDNMLIKGTAGGPDPTIELSLKDNVDYWVLMDPVKQMLFLNSTGRVLDRDPPMNIHSIVVQVQCINKKVGTIIYHEVRIVVRDRNDNSPTFKHESYYATVNELTPVGTTIFTGFSGDNGATDIDDGPNGQIEYVIQYNPDDPTSNDTFEIPLMLTGNIVLRKRLNYEDKTRYFVIIQANDRAQNLNERRTTTTTLTVDVLDGDDLGPMFLPCVLVPNTRDCRPLTYQAAIPELRTPEELNPIIVTPPIQAIDQDRNIQPPSDRPGILYSILVGTPEDYPRFFHMHPRTAELSLLEPVNRDFHQKFDLVIKAEQDNGHPLPAFAGLHIEILDENNQSPYFTMPSYQGYILESAPVGATISDSLNLTSPLRIVALDKDIEDTKDPELHLFLNDYTSVFTVTQTGITRYLTLLQPVDREEQQTYTFSITAFDGVQESEPVIVNIQVMDANDNTPTFPEISYDVYVYTDMRPGDSVIQLTAVDADEGSNGEITYEILVGAQGDFIINKTTGLITIAPGVEMIVGRTYALTVQAADNAPPAERRNSICTVYIEVLPPNNQSPPRFPQLMYSLEISEAMRVGAVLLNLQATDREGDSITYAIENGDPQRVFNLSETTGILTLGKALDRESTDRYILIITASDGRPDGEEPKKIKKPKVEIREPSEEEEVVVTIEKPPAAEPTYTTWKRARIFPMIFKKVRGLADKRGIVDLEGEEWQRRLEEEDKDYLKLTLDQEEATESTVESEEESSSDYTEYSEEESEFSESETTEEESESETPSEEEESSTPESEESESTESEGEKARKNIVLARRRPMVEEVKEVKGRKEEPQEEQKEPKMEEEEHSEEEESGPAPVEESTDPEAQDIPEEGSAESASVEGGVESEEESESGSSSSSSESQSGGPWGYQVPAYDRSKNANQKKSPGANSEGYNTAL", "length": 981, "header": "tr|A2A3E4-1|A2A3E4_HUMAN Computationally mapped isoform of Protocadherin-15 OS=Homo sapiens OX=9606 GN=PCDH15 PE=1 SV=1 CANONICAL=Q96QU1-1" }, "locus": { "chromosome": "10", "start_pos": 54664262, "end_pos": 53808695, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000395446.5", "url": "https://www.ensembl.org/id/ENST00000395446.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000378833.1", "url": "https://www.ensembl.org/id/ENSP00000378833.1" } ] } }, { "isoform_ac": "A2A3E5-1", "url": "https://www.uniprot.org/uniprotkb/Q96QU1/entry#A2A3E5-1", "sequence": { "sequence": "MFRQFYLWTCLASGIILGSLFEICLGQYDDDCKLARGGPPATIVAIDEESRNGTILVDNMLIKGTAGGPDPTIELSLKDNVDYWVLMDPVKQMLFLNSTGRVLDRDPPMNIHSIVVQVQCINKKVGTIIYHEVRIVVRDRNDNSPTFKHESYYATVNELTPVGTTIFTGFSGDNGATDIDDGPNGQIEYVIQYNPDDPTSNDTFEIPLMLTGNIVLRKRLNYEDKTRYFVIIQANDRAQNLNERRTTTTTLTVDVLDGDDLGPMFLPCVLVPNTRDCRPLTYQAAIPELRTPEELNPIIVTPPIQAIDQDRNIQPPSDRPGILYSILVGTPEDYPRFFHMHPRTAELSLLEPVNRDFHQKFDLVIKAEQDNGHPLPAFAGLHIEILDENNQSPYFTMPSYQGYILESAPVGATISDSLNLTSPLRIVALDKDIEDEEPKKIKKPKVEIREPSEEEEVVVTIEKPPAAEPTYTTWKRARIFPMIFKKVRGLADKRGIVDLEGEEWQRRLEEEDKDYLKLTLDQEEATESTVESEEESSSDYTEYSEEESEFSESETTEEESESETPSEEEESSTPESEESESTESEGEKARKNIVLARRRPMVEEVKEVKGRKEEPQEEQKEPKMEEEEHSEEEESGPAPVEESTDPEAQDIPEEGSAESASVEGGVESEEESESGSSSSSSESQSGGPWGYQVPAYDRSKNANQKKSPGANSEGYNTAL", "length": 719, "header": "tr|A2A3E5-1|A2A3E5_HUMAN Computationally mapped isoform of Protocadherin-15 OS=Homo sapiens OX=9606 GN=PCDH15 PE=1 SV=1 CANONICAL=Q96QU1-1" }, "locus": { "chromosome": "10", "start_pos": 54664262, "end_pos": 53808695, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000395440.5", "url": "https://www.ensembl.org/id/ENST00000395440.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000378827.1", "url": "https://www.ensembl.org/id/ENSP00000378827.1" } ] } }, { "isoform_ac": "A2A3E6-1", "url": "https://www.uniprot.org/uniprotkb/Q96QU1/entry#A2A3E6-1", "sequence": { "sequence": "MFRQFYLWTCLASGIILGSLFEICLGQYDDDCKLARGGPPATIVAIDEESRNGTILVDNMLIKGTAGGPDPTIELSLKDNVDYWVLMDPVKQMLFLNSTGRVLDRDPPMNIHSIVVQVQCINKKVGTIIYHEVRIVVRDRNDNSPTFKHESYYATVNELTPVGTTIFTGFSGDNGATDIDDGPNGQIEYVIQYNPDDPTSNDTFEIPLMLTGNIVLRKRLNYEDKTRYFVIIQANDRAQNLNERRTTTTTLTVDVLDGDDLGPMFLPCVLVPNTRDCRPLTYQAAIPELRTPEELNPIIVTPPIQAIDQDRNIQPPSDRPGILYSILVGTPEDYPRFFHMHPRTAELSLLEPVNRDFHQKFDLVIKAEQDNGHPLPAFAGLHIEILDENNQSPYFTMPSYQGYILESAPVGATISDSLNLTSPLRIVALDKDIEDTKDPELHLFLNDYTSVFTVTQTGITRYLTLLQPVDREEQQTYTFSITAFDGVQESEPVIVNIQVMDANDNTPTFPEISYDVYVYTDMRPGDSVIQLTAVDADEGSNGEITYEILVGAQGDFIINKTTGLITIAPGVEMIVGRTYALTVQAADNAPPAERRNSICTVYIEVLPPNNQSPPRFPQLMYSLEISEAMRVGAVLLNLQATDREGDSITYAIENGDPQRVFNLSETTGILTLGKALDRESTDRYILIITASDGRPDGTSTATVNIVVTDVNDNAPVFDPYLPRNLSVVEEEANAFVGQVKATDPDAGINGQVHYSLGNFNNLFRITSNGSIYTAVKLNREVRDYYELVVVATDGAVHPRHSTLTLAIKVLDIDDNSPVFTNSTYTVLVEENLPAGTTILQIEAKDVDLGANVSYRIRSPEVKHFFALHPFTGELSLLRSLDYEAFPDQEASITFLVEAFDIYGTMPPGIATVTVIVKDMNDYPPVFSKRIYKGMVAPDAVKGTPITTVYAEDADPPGLPASRVRYRVDDVQFPYPASIFEVEEDSGRVITRVNLNEEPTTIFKLVVVAFDDGEPVMSSSATVKILVLHPGEIPRFTQEEYRPPPVSELATKGTMVGVISAAAINQSIVYSIVSGNEEDTFGINNITGVIYVNGPLDYETRTSYVLRVQADSLEVVLANLRVPSKSNTAKVYIEIQDENNHPPVFQKKFYIGGVSEDARMFTSVLRVKATDKDTGNYSVMAYRLIIPPIKEGKEGFVVETYTGLIKTAMLFHNMRRSYFKFQVIATDDYGKGLSGKADVLVSVVNQLDMQVIVSNVPPTLVEKKIEDLTEILDRYVQEQIPGAKVVVESIGARRHGDAFSLEDYTKCDLTVYAIDPQTNRAIDRNELFKFLDGKLLDINKDFQPYYGEGGRILEIRTPEAVTSIKKRGESLGYTEGALLALAFIIILCCIPAILVVLVSYRQRQAECTKTARIQAALPAAKPAVPAPAPVAAPPPPPPPPPGAHLYEELGDSSILFLLYHFQQSRGNNSVSEDRKHQQVVMPFSSNTIEAHKSAHVDGSLKSNKLKSARKFTFLSDEDDLSAHNPLYKENISQVSTNSDISQRTDFVDPFSPKIQAKSKSLRGPREKIQRLWSQSVSLPRRLMRKVPNRPEIIDLQQWQGTRQKAENENTGICTNKRGSSNPLLTTEEANLTEKEEIRQGETLMIEGTEQLKSLSSDSSFCFPRPHFSFSTLPTVSRTVELKSEPNVISSPAECSLELSPSRPCVLHSSLSRRETPICMLPIETERNIFENFAHPPNISPSACPLPPPPPISPPSPPPAPAPLAPPPDISPFSLFCPPPSPPSIPLPLPPPTFFPLSVSTSGPPTPPLLPPFPTPLPPPPPSIPCPPPPSASFLSTECVCITGVKCTTNLMPAEKIKSSMTQLSTTTVCKTDPQREPKGILRHVKNLAELEKSVANMYSQIEKNYLRTNVSELQTMCPSEVTNMEITSEQNKGSLNNIVEGTEKQSHSQSTSL", "length": 1952, "header": "tr|A2A3E6-1|A2A3E6_HUMAN Computationally mapped isoform of Protocadherin-15 OS=Homo sapiens OX=9606 GN=PCDH15 PE=1 SV=1 CANONICAL=Q96QU1-1" }, "locus": { "chromosome": "10", "start_pos": 54664262, "end_pos": 53821861, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000395430.5", "url": "https://www.ensembl.org/id/ENST00000395430.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000378818.1", "url": "https://www.ensembl.org/id/ENSP00000378818.1" } ] } }, { "isoform_ac": "A2A3E7-1", "url": "https://www.uniprot.org/uniprotkb/Q96QU1/entry#A2A3E7-1", "sequence": { "sequence": "MFRQFYLWTCLASGIILGSLFEICLGQYDDDCKLARGGPPATIVAIDEESRNGTILVDNMLIKGTAGGPDPTIELSLKDNVDYWVLMDPVKQMLFLNSTGRVLDRDPPMNIHSIVVQVQCINKKVGTIIYHEVRIVVRDRNDNSPTFKHESYYATVNELTPVGTTIFTGFSGDNGATDIDDGPNGQIEYVIQYNPDDPTSNDTFEIPLMLTGNIVLRKRLNYEDKTRYFVIIQANDRAQNLNERRTTTTTLTVDVLDGDDLGPMFLPCVLVPNTRDCRPLTYQAAIPELRTPEELNPIIVTPPIQAIDQDRNIQPPSDRPGILYSILVGTPEDYPRFFHMHPRTAELSLLEPVNRDFHQKFDLVIKAEQDNGHPLPAFAGLHIEILDENNQSPYFTMPSYQGYILESAPVGATISDSLNLTSPLRIVALDKDIEDTKDPELHLFLNDYTSVFTVTQTGITRYLTLLQPVDREEQQTYTFSITAFDGVQESEPVIVNIQVMDANDNTPTFPEISYDVYVYTDMRPGDSVIQLTAVDADEGSNGEITYEILVGAQGDFIINKTTGLITIAPGVEMIVGRTYALTVQAADNAPPAERRNSICTVYIEVLPPNNQSPPRFPQLMYSLEISEAMRVGAVLLNLQATDREGDSITYAIENGDPQRVFNLSETTGILTLGKALDRESTDRYILIITASDGRPDGTSTATVNIVVTDVNDNAPVFDPYLPRNLSVVEEEANAFVGQVKATDPDAGINGQVHYSLGNFNNLFRITSNGSIYTAVKLNREVRDYYELVVVATDGAVHPRHSTLTLAIKVLDIDDNSPVFTNSTYTVLVEENLPAGTTILQIEAKDVDLGANVSYRIRSPEVKHFFALHPFTGELSLLRSLDYEAFPDQEASITFLVEAFDIYGTMPPGIATVTVIVKDMNDYPPVFSKRIYKGMVAPDAVKGTPITTVYAEDADPPGLPASRVRYRVDDVQFPYPASIFEVEEDSGRVITRVNLNEEPTTIFKLVVVAFDDGEPVMSSSATVKILVLHPGEIPRFTQEEYRPPPVSELATKGTMVGVISAAAINQSIVYSIVSGNEEDTFGINNITGVIYVNGPLDYETRTSYVLRVQADSLEVVLANLRVPSKSNTAKVYIEIQDENNHPPVFQKKFYIGGVSEDARMFTSVLRVKATDKDTGNYSVMAYRLIIPPIKEGKEGFVVETYTGLIKTAMLFHNMRRSYFKFQVIATDDYGKGLSGKADVLVSVVNQLDMQVIVSNVPPTLVEKKIEDLTEILDRYVQEQIPGAKVVVESIGARRHGDAFSLEDYTKCDLTVYAIDPQTNRAIDRNELFKFLDGKLLDINKDFQPYYGEGGRILEIRTPEAVTSIKKRGESLGYTEGALLALAFIIILCCIPAILVVLVSYRQFKVRQAECTKTARIQAALPAAKPAVPAPAPVAAPPPPPPPPPGAHLYEELGDSSMHNLFLLYHFQQSRGNNSVSEDRKHQQVVMPFSSNTIEAHKSAHVDGSLKSNKLKSARKFTFLSDEDDLSAHNPLYKENISQVSTNSDISQRTDFVDPFSPKIQAKSKSLRGPREKIQRLWSQSVSLPRRLMRKVPNRPEIIDLQQWQGTRQKAENENTGICTNKRGSSNPLLTTEEANLTEKEEIRQGETLMIEGTEQLKSLSSDSSFCFPRPHFSFSTLPTVSRTVELKSEPNVISSPAECSLELSPSRPCVLHSSLSRRETPICMLPIETERNIFENFAHPPNISPSACPLPPPPPISPPSPPPAPAPLAPPPDISPFSLFCPPPSPPSIPLPLPPPTFFPLSVSTSGPPTPPLLPPFPTPLPPPPPSIPCPPPPSASFLSTECVCITGVKCTTNLMPAEKIKSSMTQLSTTTVCKTDPQREPKGILRHVKNLAELEKSVANMYSQIEKNYLRTNVSELQTMCPSEVTNMEITSEQNKGSLNNIVEGTEKQSHSQSTSL", "length": 1957, "header": "tr|A2A3E7-1|A2A3E7_HUMAN Computationally mapped isoform of Protocadherin-15 OS=Homo sapiens OX=9606 GN=PCDH15 PE=1 SV=1 CANONICAL=Q96QU1-1" }, "locus": { "chromosome": "10", "start_pos": 54664262, "end_pos": 53821861, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000361849.7", "url": "https://www.ensembl.org/id/ENST00000361849.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000354950.3", "url": "https://www.ensembl.org/id/ENSP00000354950.3" } ] } }, { "isoform_ac": "A2A3E8-1", "url": "https://www.uniprot.org/uniprotkb/Q96QU1/entry#A2A3E8-1", "sequence": { "sequence": "MFRQFYLWTCLASGIILGSLFEICLGQYDDGTILVDNMLIKGTAGGPDPTIELSLKDNVDYWVLMDPVKQMLFLNSTGRVLDRDPPMNIHSIVVQVQCINKKVGTIIYHEVRIVVRDRNDNSPTFKHESYYATVNELTPVGTTIFTGFSGDNGATDIDDGPNGQIEYVIQYNPDDPTSNDTFEIPLMLTGNIVLRKRLNYEDKTRYFVIIQANDRAQNLNERRTTTTTLTVDVLDGDDLGPMFLPCVLVPNTRDCRPLTYQAAIPELRTPEELNPIIVTPPIQAIDQDRNIQPPSDRPGILYSILVGTPEDYPRFFHMHPRTAELSLLEPVNRDFHQKFDLVIKAEQDNGHPLPAFAGLHIEILDENNQSPYFTMPSYQGYILESAPVGATISDSLNLTSPLRIVALDKDIEDTKDPELHLFLNDYTSVFTVTQTGITRYLTLLQPVDREEQQTYTFSITAFDGVQESEPVIVNIQVMDANDNTPTFPEISYDVYVYTDMRPGDSVIQLTAVDADEGSNGEITYEILVGAQGDFIINKTTGLITIAPGVEMIVGRTYALTVQAADNAPPAERRNSICTVYIEVLPPNNQSPPRFPQLMYSLEISEAMRVGAVLLNLQATDREGDSITYAIENGDPQRVFNLSETTGILTLGKALDRESTDRYILIITASDGRPDGTSTATVNIVVTDVNDNAPVFDPYLPRNLSVVEEEANAFVGQVKATDPDAGINGQVHYSLGNFNNLFRITSNGSIYTAVKLNREVRDYYELVVVATDGAVHPRHSTLTLAIKVLDIDDNSPVFTNSTYTVLVEENLPAGTTILQIEAKDVDLGANVSYRIRSPEVKHFFALHPFTGELSLLRSLDYEAFPDQEASITFLVEAFDIYGTMPPGIATVTVIVKDMNDYPPVFSKRIYKGMVAPDAVKGTPITTVYAEDADPPGLPASRVRYRVDDVQFPYPASIFEVEEDSGRVITRVNLNEEPTTIFKLVVVAFDDGEPVMSSSATVKILVLHPGEIPRFTQEEYRPPPVSELATKGTMVGVISAAAINQSIVYSIVSGNEEDTFGINNITGVIYVNGPLDYETRTSYVLRVQADSLEVVLANLRVPSKSNTAKVYIEIQDENNHPPVFQKKFYIGGVSEDARMFTSVLRVKATDKDTGNYSVMAYRLIIPPIKEGKEGFVVETYTGLIKTAMLFHNMRRSYFKFQVIATDDYGKGLSGKADVLVSVVNQLDMQVIVSNVPPTLVEKKIEDLTEILDRYVQEQIPGAKVVVESIGARRHGDAFSLEDYTKCDLTVYAIDPQTNRAIDRNELFKFLDGKLLDINKDFQPYYGEGGRILEIRTPEAVTSIKKRGESLGYTEGALLALAFIIILCCIPAILVVLVSYRQRQAECTKTARIQAALPAAKPAVPAPAPVAAPPPPPPPPPGAHLYEELGDSSMHNLFLLYHFQQSRGNNSVSEDRKHQQVVMPFSSNTIEAHKSAHVDGSLKSNKLKSARKFTFLSDEDDLSAHNPLYKENISQVSTNSDISQRTDFVDPFSPKIQAKSKSLRGPREKIQRLWSQSVSLPRRLMRKVPNRPEIIDLQQWQGTRQKAENENTGICTNKRGSSNPLLTTEEANLTEKEEIRQGETLMIEGTEQLKSLSSDSSFCFPRPHFSFSTLPTVSRTVELKSEPNVISSPAECSLELSPSRPCVLHSSLSRRETPICMLPIETERNIFENFAHPPNISPSACPLPPPPPISPPSPPPAPAPLAPPPDISPFSLFCPPPSPPSIPLPLPPPTFFPLSVSTSGPPTPPLLPPFPTPLPPPPPSIPCPPPPSASFLSTECVCITGVKCTTNLMPAEKIKSSMTQLSTTTVCKTDPQREPKGILRHVKNLAELEKSVANMYSQIEKNYLRTNVSELQTMCPSEVTNMEITSEQNKGSLNNIVEGTEKQSHSQSTSL", "length": 1932, "header": "tr|A2A3E8-1|A2A3E8_HUMAN Computationally mapped isoform of Protocadherin-15 OS=Homo sapiens OX=9606 GN=PCDH15 PE=1 SV=1 CANONICAL=Q96QU1-1" }, "locus": { "chromosome": "10", "start_pos": 54664262, "end_pos": 53821861, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000395433.5", "url": "https://www.ensembl.org/id/ENST00000395433.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000378821.1", "url": "https://www.ensembl.org/id/ENSP00000378821.1" } ] } }, { "isoform_ac": "A9Z1W1-1", "url": "https://www.uniprot.org/uniprotkb/Q96QU1/entry#A9Z1W1-1", "sequence": { "sequence": "MFRQFYLWTCLASGIILGSLFEICLGQYDDDCKLARGGPPATIVAIDEESRNGTILVDNMLIKGTAGGPDPTIELSLKDNVDYWVLMDPVKQMLFLNSTGRVLDRDPPMNIHSIVVQVQCINKKVGTIIYHEVRIVVRDRNDNSPTFKHESYYATVNELTPVGTTIFTGFSGDNGATDIDDGPNGQIEYVIQYNPDDPTSNDTFEIPLMLTGNIVLRKRLNYEDKTRYFVIIQANDRAQNLNERRTTTTTLTVDVLDGDDLGPMFLPCVLVPNTRDCRPLTYQAAIPELRTPEELNPIIVTPPIQAIDQDRNIQPPSDRPGILYSILVGTPEDYPRFFHMHPRTAELSLLEPVNRDFHQKFDLVIKAEQDNGHPLPAFAGLHIEILDENNQSPYFTMPSYQGYILESAPVGATISDSLNLTSPLRIVALDKDIEDTKDPELHLFLNDYTSVFTVTQTGITRYLTLLQPVDREEQQTYTFSITAFDGVQESEPVIVNIQVMDANDNTPTFPEISYDVYVYTDMRPGDSVIQLTAVDADEGSNGEITYEILVGAQGDFIINKTTGLITIAPGVEMIVGRTYALTVQAADNAPPAERRNSICTVYIEVLPPNNQSPPRFPQLMYSLEISEAMRVGAVLLNLQATDREGDSITYAIENGDPQRVFNLSETTGILTLGKALDRESTDRYILIITASDGRPDGTSTATVNIVVTDVNDNAPVFDPYLPRNLSVVEEEANAFVGQVKATDPDAGINGQVHYSLGNFNNLFRITSNGSIYTAVKLNREVRDYYELVVVATDGAVHPRHSTLTLAIKVLDIDDNSPVFTNSTYTVLVEENLPAGTTILQIEAKDVDLGANVSYRIRSPEVKHFFALHPFTGELSLLRSLDYEAFPDQEASITFLVEAFDIYGTMPPGIATVTVIVKDMNDYPPVFSKRIYKGMVAPDAVKGTPITTVYAEDADPPGLPASRVRYRVDDVQFPYPASIFEVEEDSGRVITRVNLNEEPTTIFKLVVVAFDDGEPVMSSSATVKILVLHPGEIPRFTQEEYRPPPVSELATKGTMVGVISAAAINQSIVYSIVSGNEEDTFGINNITGVIYVNGPLDYETRTSYVLRVQADSLEVVLANLRVPSKSNTAKVYIEIQDENNHPPVFQKKFYIGGVSEDARMFTSVLRVKATDKDTGNYSVMAYRLIIPPIKEGKEGFVVETYTGLIKTAMLFHNMRRSYFKFQVIATDDYGKGLSGKADVLVSVVNQLDMQVIVSNVPPTLVEKKIEDLTEILDRYVQEQIPGAKVVVESIGARRHGDAFSLEDYTKCDLTVYAIDPQTNRAIDRNELFKFLDGKLLDINKDFQPYYGEGGRILEIRTPEAVTSIKKRGESLGYTEGALLALAFIIILCCIPAILVVLVSYRQFKVRQAECTKTARIQAALPAAKPAVPAPAPVAAPPPPPPPPPGAHLYEELGDSSMHKYEMPQYGSRRRLLPPAGQEEYGEVVGEAEEEYEEEEWARKRMIKLVVDREYETSSTGEDSAPECQRNRLHHPSIHSNINGNIYIAQNGSVVRTRRACLTDNLKVASPVRLGGPFKKLDKLAVTHEENVPLNTLSKGPFSTEKMNARPTLVTFAPCPVGTDNTAVKPLRNRLKSTVEQESMIDSKNIKEALEFHSDHTQSDDEELWMGPWNNLHIPMTKL", "length": 1677, "header": "tr|A9Z1W1-1|A9Z1W1_HUMAN Computationally mapped isoform of Protocadherin-15 OS=Homo sapiens OX=9606 GN=PCDH15 PE=1 SV=2 CANONICAL=Q96QU1-1" }, "locus": { "chromosome": "10", "start_pos": 54664262, "end_pos": 53806582, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000373965.6", "url": "https://www.ensembl.org/id/ENST00000373965.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000363076.3", "url": "https://www.ensembl.org/id/ENSP00000363076.3" } ] } }, { "isoform_ac": "B7ZBT8-1", "url": "https://www.uniprot.org/uniprotkb/Q96QU1/entry#B7ZBT8-1", "sequence": { "sequence": "MPSYQGYILESAPVGATISDSLNLTSPLRIVALDKDIEDVPPSGVPTKDPELHLFLNDYTSVFTVTQTGITRYLTLLQPVDREEQQTYTFSITAFDGVQESEPVIVNIQVMDANDNTPTFPEISYDVYVYTDMRPGDSVIQLTAVDADEGSNGEITYEILVGAQGDFIINKTTGLITIAPGVEMIVGRTYALTVQAADNAPPAERRNSICTVYIEVLPPNNQSPPRFPQLMYSLEISEAMRVGAVLLNLQATDREGDSITYAIENGDPQRVFNLSETTGILTLGKALDRESTDRYILIITASDGRPDGTSTATVNIVVTDVNDNAPVFDPYLPRNLSVVEEEANAFVGQVKATDPDAGINGQVHYSLGNFNNLFRITSNGSIYTAVKLNREVRDYYELVVVATDGAVHPRHSTLTLAIKVLDIDDNSPVFTNSTYTVLVEENLPAGTTILQIEAKDVDLGANVSYRIRSPEVKHFFALHPFTGELSLLRSLDYEAFPDQEASITFLVEAFDIYGTMPPGIATVTVIVKDMNDYPPVFSKRIYKGMVAPDAVKGTPITTVYAEDADPPGLPASRVRYRVDDVQFPYPASIFEVEEDSGRVITRVNLNEEPTTIFKLVVVAFDDGEPVMSSSATVKILVLHPGEIPRFTQEEYRPPPVSELATKGTMVGVISAAAINQSIVYSIVSGNEEDTFGINNITGVIYVNGPLDYETRTSYVLRVQADSLEVVLANLRVPSKSNTAKVYIEIQDENNHPPVFQKKFYIGGVSEDARMFTSVLRVKATDKDTGNYSVMAYRLIIPPIKEGKEGFVVETYTGLIKTAMLFHNMRRSYFKFQVIATDDYGKGLSGKADVLVSVVNQLDMQVIVSNVPPTLVEKKIEDLTEILDRYVQEQIPGAKVVVESIGARRHGDAFSLEDYTKCDLTVYAIDPQTNRAIDRNELFKFLDGKLLDINKDFQPYYGEGGRILEIRTPEAVTSIKKRGESLGYTEGALLALAFIIILCCIPAILVVLVSYRQFKVRQAECTKTARIQAALPAAKPAVPAPAPVAAPPPPPPPPPGAHLYEELGDSSMHKNYPWSLELILARNMDKIITVMSMGMKCLNMGVAVDCYHQLDRRNMVRWLVKLRKNMRRKRKSQRKLKNQRLKLESLVRRKK", "length": 1150, "header": "tr|B7ZBT8-1|B7ZBT8_HUMAN Computationally mapped isoform of Protocadherin related 15 OS=Homo sapiens OX=9606 GN=PCDH15 PE=1 SV=1 CANONICAL=Q96QU1-1" }, "locus": { "chromosome": "10", "start_pos": 54195799, "end_pos": 53809483, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000409834.5", "url": "https://www.ensembl.org/id/ENST00000409834.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000386693.1", "url": "https://www.ensembl.org/id/ENSP00000386693.1" } ] } }, { "isoform_ac": "E7EM53-1", "url": "https://www.uniprot.org/uniprotkb/Q96QU1/entry#E7EM53-1", "sequence": { "sequence": "MFRQFYLWTCLASGIILGSLFEICLGQYDDDCKLARGGPPATIVAIDEESRNGTILVDNMLIKGTAGGPDPTIELSLKDNVDYWVLMDPVKQMLFLNSTGRVLDRDPPMNIHSIVVQVQCINKKVGTIIYHEVRIVVRDRNDNSPTFKHESYYATVNELTPVGTTIFTGFSGDNGATDIDDGPNGQIEYVIQYNPDDPTSNDTFEIPLMLTGNIVLRKRLNYEDKTRYFVIIQANDRAQNLNERRTTTTTLTVDVLDGDDLGPMFLPCVLVPNTRDCRPLTYQAAIPELRTPEELNPIIVTPPIQAIDQDRNIQPPSDRPGILYSILVGTPEDYPRFFHMHPRTAELSLLEPVNRDFHQKFDLVIKAEQDNGHPLPAFAGLHIEILDENNQSPYFTMPSYQGYILESAPVGATISDSLNLTSPLRIVALDKDIEDTKDPELHLFLNDYTSVFTVTQTGITRYLTLLQPVDREEQQTYTFSITAFDGVQESEPVIVNIQVMDANDNTPTFPEISYDVYVYTDMRPGDSVIQLTAVDADEGSNGEITYEILVGAQGDFIINKTTGLITIAPGVEMIVGRTYALTVQAADNAPPAERSTGILTLGKALDRESTDRYILIITASDGRPDGTSTATVNIVVTDVNDNAPVFDPYLPRNLSVVEEEANAFVGQVKATDPDAGINGQVHYSLGNFNNLFRITSNGSIYTAVKLNREVRDYYELVVVATDGAVHPRHSTLTLAIKVLDIDDNSPVFTNSTYTVLVEENLPAGTTILQIEAKDVDLGANVSYRIRSPEVKHFFALHPFTGELSLLRSLDYEAFPDQEASITFLVEAFDIYGTMPPGIATVTVIVKDMNDYPPVFSKRIYKGMVAPDAVKGTPITTVYAEDADPPGLPASRVRYRVDDVQFPYPASIFEVEEDSGRVITRVNLNEEPTTIFKLVVVAFDDGEPVMSSSATVKILVLHPGEIPRFTQEEYRPPPVSELATKGTMVGVISAAAINQSIVYSIVSGNEEDTFGINNITGVIYVNGPLDYETRTSYVLRVQADSLEVVLANLRVPSKSNTAKVYIEIQDENNHPPVFQKKFYIGGVSEDARMFTSVLRVKATDKDTGNYSVMAYRLIIPPIKEGKEGFVVETYTGLIKTAMLFHNMRRSYFKFQVIATDDYGKGLSGKADVLVSVVNQLDMQVIVSNVPPTLVEKKIEDLTEILDRYVQEQIPGAKVVVESIGARRHGDAFSLEDYTKCDLTVYAIDPQTNRAIDRNELFKFLDGKLLDINKDFQPYYGEGGRILEIRTPEAVTSIKKRGESLGYTEGALLALAFIIILCCIPAILVVLVSYRQFKVRQAECTKTARIQAALPAAKPAVPAPAPVAAPPPPPPPPPGAHLYEELGDSSMHNLFLLYHFQQSRGNNSVSEDRKHQQVVMPFSSNTIEAHKSAHVDGSLKSNKLKSARKFTFLSDEDDLSAHNPLYKENISQVSTNSDISQRTDFVDPFSPKIQAKSKSLRGPREKIQRLWSQSVSLPRRLMRKVPNRPEIIDLQQWQGTRQKAENENTGICTNKRGSSNPLLTTEEANLTEKEEIRQGETLMIEGTEQLKSLSSDSSFCFPRPHFSFSTLPTVSRTVELKSEPNVISSPAECSLELSPSRPCVLHSSLSRRETPICMLPIETERNIFENFAHPPNISPSACPLPPPPPISPPSPPPAPAPLAPPPDISPFSLFCPPPSPPSIPLPLPPPTFFPLSVSTSGPPTPPLLPPFPTPLPPPPPSIPCPPPPSASFLSTECVCITGVKCTTNLMPAEKIKSSMTQLSTTTVCKTDPQREPKGILRHVKNLAELEKSVANMYSQIEKNYLRTNVSELQTMCPSEVTNMEITSEQNKGSLNNIVEGTEKQSHSQSTSL", "length": 1886, "header": "tr|E7EM53-1|E7EM53_HUMAN Computationally mapped isoform of Protocadherin-15 OS=Homo sapiens OX=9606 GN=PCDH15 PE=1 SV=2 CANONICAL=Q96QU1-1" }, "locus": { "chromosome": "10", "start_pos": 54664262, "end_pos": 53821861, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000437009.5", "url": "https://www.ensembl.org/id/ENST00000437009.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000412628.2", "url": "https://www.ensembl.org/id/ENSP00000412628.2" } ] } }, { "isoform_ac": "E7EM97-1", "url": "https://www.uniprot.org/uniprotkb/Q96QU1/entry#E7EM97-1", "sequence": { "sequence": "MFRQFYLWTCLASGIILGSLFEICLGQYDDDCKLARGGPPATIVAIDEESRNGTILVDNMLIKGTAGGPDPTIELSLKDNVDYWVLMDPVKQMLFLNSTGRVLDRDPPMNIHSIVVQVQCINKKVGTIIYHEVRIVVRDRNDNSPTFKHESYYATVNELTPVGTTIFTGFSGDNGATDIDDGPNGQIEYVIQYNPDDPTSNDTFEIPLMLTGNIVLRKRLNYEDKTRYFVIIQANDRAQNLNERRTTTTTLTVDVLDGDDLGPMFLPCVLVPNTRDCRPLTYQAAIPELRTPDLGSLCSGTNSWCQGRSGVHWSSPAWRCLFPRRLHQM", "length": 329, "header": "tr|E7EM97-1|PCD15_HUMAN Computationally mapped isoform of Protocadherin-15 OS=Homo sapiens OX=9606 GN=PCDH15 PE=1 SV=1 CANONICAL=Q96QU1-1" }, "locus": { "chromosome": "10", "start_pos": 54664262, "end_pos": 53840386, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000414367.5", "url": "https://www.ensembl.org/id/ENST00000414367.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000412531.1", "url": "https://www.ensembl.org/id/ENSP00000412531.1" } ] } }, { "isoform_ac": "E7EMG8-1", "url": "https://www.uniprot.org/uniprotkb/Q96QU1/entry#E7EMG8-1", "sequence": { "sequence": "MFRQFYLWTCLASGIILGSLFEICLGQYDDDCKLARGGPPATIVAIDEESRNGTILVDNMLIKGTAGGPDPTIELSLKDNVDYWVLMDPVKQMLFLNSTGRVLDRDPPMNIHSIVVQVQCINKKVGTIIYHEVRIVVRDRNDNSPTFKHESYYATVNELTPVGTTIFTGFSGDNGATDIDDGPNGQIEYVIQYNPDDPTSNDTFEIPLMLTGNIVLRKRLNYEDKTRYFVIIQANDRAQNLNERRTTTTTLTVDVLDGDDLGPMFLPCVLVPNTRDCRPLTYQAAIPELRTPEELNPIIVTPPIQAIDQDRNIQPPSDRPGILYSILVGTPEDYPRFFHMHPRTAELSLLEPVNRDFHQKFDLVIKAEQDNGHPLPAFAGLHIEILDENNQSPYFTMPSYQGYILESAPVGATISDSLNLTSPLRIVALDKDIEDTKDPELHLFLNDYTSVFTVTQTGITRYLTLLQPVDREEQQTYTFSITAFDGVQESEPVIVNIQVMDANDNTPTFPEISYDVYVYTDMRPGDSVIQLTAVDADEGSNGEITYEILVGAQGDFIINKTTGLITIAPGVEMIVGRTYALTVQAADNAPPAERRNSICTVYIEVLPPNNQSPPRFPQLMYSLEISEAMRVGAVLLNLQHGDSNLRESTGQGKH", "length": 654, "header": "tr|E7EMG8-1|E7EMG8_HUMAN Computationally mapped isoform of Protocadherin-15 OS=Homo sapiens OX=9606 GN=PCDH15 PE=1 SV=1 CANONICAL=Q96QU1-1" }, "locus": { "chromosome": "10", "start_pos": 54664262, "end_pos": 54079380, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000448885.5", "url": "https://www.ensembl.org/id/ENST00000448885.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000412320.1", "url": "https://www.ensembl.org/id/ENSP00000412320.1" } ] } }, { "isoform_ac": "Q96QU1-1", "url": "https://www.uniprot.org/uniprotkb/Q96QU1/entry#Q96QU1-1", "sequence": { "sequence": "MFRQFYLWTCLASGIILGSLFEICLGQYDDDCKLARGGPPATIVAIDEESRNGTILVDNMLIKGTAGGPDPTIELSLKDNVDYWVLMDPVKQMLFLNSTGRVLDRDPPMNIHSIVVQVQCINKKVGTIIYHEVRIVVRDRNDNSPTFKHESYYATVNELTPVGTTIFTGFSGDNGATDIDDGPNGQIEYVIQYNPDDPTSNDTFEIPLMLTGNIVLRKRLNYEDKTRYFVIIQANDRAQNLNERRTTTTTLTVDVLDGDDLGPMFLPCVLVPNTRDCRPLTYQAAIPELRTPEELNPIIVTPPIQAIDQDRNIQPPSDRPGILYSILVGTPEDYPRFFHMHPRTAELSLLEPVNRDFHQKFDLVIKAEQDNGHPLPAFAGLHIEILDENNQSPYFTMPSYQGYILESAPVGATISDSLNLTSPLRIVALDKDIEDTKDPELHLFLNDYTSVFTVTQTGITRYLTLLQPVDREEQQTYTFSITAFDGVQESEPVIVNIQVMDANDNTPTFPEISYDVYVYTDMRPGDSVIQLTAVDADEGSNGEITYEILVGAQGDFIINKTTGLITIAPGVEMIVGRTYALTVQAADNAPPAERRNSICTVYIEVLPPNNQSPPRFPQLMYSLEISEAMRVGAVLLNLQATDREGDSITYAIENGDPQRVFNLSETTGILTLGKALDRESTDRYILIITASDGRPDGTSTATVNIVVTDVNDNAPVFDPYLPRNLSVVEEEANAFVGQVKATDPDAGINGQVHYSLGNFNNLFRITSNGSIYTAVKLNREVRDYYELVVVATDGAVHPRHSTLTLAIKVLDIDDNSPVFTNSTYTVLVEENLPAGTTILQIEAKDVDLGANVSYRIRSPEVKHFFALHPFTGELSLLRSLDYEAFPDQEASITFLVEAFDIYGTMPPGIATVTVIVKDMNDYPPVFSKRIYKGMVAPDAVKGTPITTVYAEDADPPGLPASRVRYRVDDVQFPYPASIFEVEEDSGRVITRVNLNEEPTTIFKLVVVAFDDGEPVMSSSATVKILVLHPGEIPRFTQEEYRPPPVSELATKGTMVGVISAAAINQSIVYSIVSGNEEDTFGINNITGVIYVNGPLDYETRTSYVLRVQADSLEVVLANLRVPSKSNTAKVYIEIQDENNHPPVFQKKFYIGGVSEDARMFTSVLRVKATDKDTGNYSVMAYRLIIPPIKEGKEGFVVETYTGLIKTAMLFHNMRRSYFKFQVIATDDYGKGLSGKADVLVSVVNQLDMQVIVSNVPPTLVEKKIEDLTEILDRYVQEQIPGAKVVVESIGARRHGDAFSLEDYTKCDLTVYAIDPQTNRAIDRNELFKFLDGKLLDINKDFQPYYGEGGRILEIRTPEAVTSIKKRGESLGYTEGALLALAFIIILCCIPAILVVLVSYRQFKVRQAECTKTARIQAALPAAKPAVPAPAPVAAPPPPPPPPPGAHLYEELGDSSILFLLYHFQQSRGNNSVSEDRKHQQVVMPFSSNTIEAHKSAHVDGSLKSNKLKSARKFTFLSDEDDLSAHNPLYKENISQVSTNSDISQRTDFVDPFSPKIQAKSKSLRGPREKIQRLWSQSVSLPRRLMRKVPNRPEIIDLQQWQGTRQKAENENTGICTNKRGSSNPLLTTEEANLTEKEEIRQGETLMIEGTEQLKSLSSDSSFCFPRPHFSFSTLPTVSRTVELKSEPNVISSPAECSLELSPSRPCVLHSSLSRRETPICMLPIETERNIFENFAHPPNISPSACPLPPPPPISPPSPPPAPAPLAPPPDISPFSLFCPPPSPPSIPLPLPPPTFFPLSVSTSGPPTPPLLPPFPTPLPPPPPSIPCPPPPSASFLSTECVCITGVKCTTNLMPAEKIKSSMTQLSTTTVCKTDPQREPKGILRHVKNLAELEKSVANMYSQIEKNYLRTNVSELQTMCPSEVTNMEITSEQNKGSLNNIVEGTEKQSHSQSTSL", "length": 1955, "header": "sp|Q96QU1-1|PCD15_HUMAN Isoform 1 of Protocadherin-15 OS=Homo sapiens OX=9606 GN=PCDH15 PE=1 SV=2 CANONICAL=Q96QU1-1" }, "locus": { "chromosome": "10", "start_pos": 54664262, "end_pos": 53821861, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000320301.11", "url": "https://www.ensembl.org/id/ENST00000320301.11" }, { "database": "Ensembl Peptide", "id": "ENSP00000322604.6", "url": "https://www.ensembl.org/id/ENSP00000322604.6" } ] } }, { "isoform_ac": "Q96QU1-2", "url": "https://www.uniprot.org/uniprotkb/Q96QU1/entry#Q96QU1-2", "sequence": { "sequence": "MTFSHSGNTAKVYIEIQDENNHPPVFQKKFYIGGVSEDARMFTSVLRVKATDKDTGNYSVMAYRLIIPPIKEGKEGFVVETYTGLIKTAMLFHNMRRSYFKFQVIATDDYGKGLSGKADVLVSVVNQLDMQVIVSNVPPTLVEKKIEDLTEILDRYVQEQIPGAKVVVESIGARRHGDAFSLEDYTKCDLTVYAIDPQTNRAIDRNELFKFLDGKLLDINKDFQPYYGEGGRILEIRTPEAVTSIKKRGESLGYTEGALLALAFIIILCCIPAILVVLVSYRQFKVRQAECTKTARIQAALPAAKPAVPAPAPVAAPPPPPPPPPGAHLYEELGDSSILFLLYHFQQSRGNNSVSEDRKHQQVVMPFSSNTIEAHKSAHVDGSLKSNKLKSARKFTFLSDEDDLSAHNPLYKENISQVSTNSDISQRTDFVDPFSPKIQAKSKSLRGPREKIQRLWSQSVSLPRRLMRKVPNRPEIIDLQQWQGTRQKAENENTGICTNKRGSSNPLLTTEEANLTEKEEIRQGETLMIEGTEQLKSLSSDSSFCFPRPHFSFSTLPTVSRTVELKSEPNVISSPAECSLELSPSRPCVLHSSLSRRETPICMLPIETERNIFENFAHPPNISPSACPLPPPPPISPPSPPPAPAPLAPPPDISPFSLFCPPPSPPSIPLPLPPPTFFPLSVSTSGPPTPPLLPPFPTPLPPPPPSIPCPPPPSASFLSTECVCITGVKCTTNLMPAEKIKSSMTQLSTTTVCKTDPQREPKGILRHVKNLAELEKSVANMYSQIEKNYLRTNVSELQTMCPSEVTNMEITSEQNKGSLNNIVEGTEKQSHSQSTSL", "length": 837, "header": "sp|Q96QU1-2|PCD15_HUMAN Isoform 2 of Protocadherin-15 OS=Homo sapiens OX=9606 GN=PCDH15 PE=1 SV=2 CANONICAL=Q96QU1-1" }, "locus": {} }, { "isoform_ac": "Q96QU1-3", "url": "https://www.uniprot.org/uniprotkb/Q96QU1/entry#Q96QU1-3", "sequence": { "sequence": "MFRQFYLWTCLASGIILGSLFEICLGQYDDDCKLARGGPPATIVAIDEESRNGTILVDNMLIKGTAGGPDPTIELSLKDNVDYWVLMDPVKQMLFLNSTGRVLDRDPPMNIHSIVVQVQCINKKVGTIIYHEVRIVVRDRNDNSPTFKHESYYATVNELTPVGTTIFTGFSGDNGATDIDDGPNGQIEYVIQYNPDDPTSNDTFEIPLMLTGNIVLRKRLNYEDKTRYFVIIQANDRAQNLNERRTTTTTLTVDVLDGDDLGPMFLPCVLVPNTRDCRPLTYQAAIPELRTPEELNPIIVTPPIQAIDQDRNIQPPSDRPGILYSILVGTPEDYPRFFHMHPRTAELSLLEPVNRDFHQKFDLVIKAEQDNGHPLPAFAGLHIEILDENNQSPYFTMPSYQGYILESAPVGATISDSLNLTSPLRIVALDKDIEDTKDPELHLFLNDYTSVFTVTQTGITRYLTLLQPVDREEQQTYTFSITAFDGVQESEPVIVNIQVMDANDNTPTFPEISYDVYVYTDMRPGDSVIQLTAVDADEGSNGEITYEILVGAQGDFIINKTTGLITIAPGVEMIVGRTYALTVQAADNAPPAERRNSICTVYIEVLPPNNQSPPRFPQLMYSLEISEAMRVGAVLLNLQATDREGDSITYAIENGDPQRVFNLSETTGILTLGKALDRESTDRYILIITASDGRPDGTSTATVNIVVTDVNDNAPVFDPYLPRNLSVVEEEANAFVGQVKATDPDAGINGQVHYSLGNFNNLFRITSNGSIYTAVKLNREVRDYYELVVVATDGAVHPRHSTLTLAIKVLDIDDNSPVFTNSTYTVLVEENLPAGTTILQIEAKDVDLGANVSYRIRSPEVKHFFALHPFTGELSLLRSLDYEAFPDQEASITFLVEAFDIYGTMPPGIATVTVIVKDMNDYPPVFSKRIYKGMVAPDAVKGTPITTVYAEDADPPVSRRH", "length": 961, "header": "sp|Q96QU1-3|PCD15_HUMAN Isoform 3 of Protocadherin-15 OS=Homo sapiens OX=9606 GN=PCDH15 PE=1 SV=2 CANONICAL=Q96QU1-1" }, "locus": { "chromosome": "10", "start_pos": 54664262, "end_pos": 53995634, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000373955.5", "url": "https://www.ensembl.org/id/ENST00000373955.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000363066.1", "url": "https://www.ensembl.org/id/ENSP00000363066.1" } ] } }, { "isoform_ac": "Q96QU1-4", "url": "https://www.uniprot.org/uniprotkb/Q96QU1/entry#Q96QU1-4", "sequence": { "sequence": "MFRQFYLWTCLASGIILGSLFEICLGQYDDDCKLARGGPPATIVAIDEESRNGTILVDNMLIKGTAGGPDPTIELSLKDNVDYWVLMDPVKQMLFLNSTGRVLDRDPPMNIHSIVVQVQCINKKVGTIIYHEVRIVVRDRNDNSPTFKHESYYATVNELTPVGTTIFTGFSGDNGATDIDDGPNGQIEYVIQYNPDDPTSNDTFEIPLMLTGNIVLRKRLNYEDKTRYFVIIQANDRAQNLNERRTTTTTLTVDVLDGDDLGPMFLPCVLVPNTRDCRPLTYQAAIPELRTPEELNPIIVTPPIQAIDQDRNIQPPSDRPGILYSILVGTPEDYPRFFHMHPRTAELSLLEPVNRDFHQKFDLVIKAEQDNGHPLPAFAGLHIEILDENNQSPYFTMPSYQGYILESAPVGATISDSLNLTSPLRIVALDKDIEDVPPSGVPTKDPELHLFLNDYTSVFTVTQTGITRYLTLLQPVDREEQQTYTFSITAFDGVQESEPVIVNIQVMDANDNTPTFPEISYDVYVYTDMRPGDSVIQLTAVDADEGSNGEITYEILVGAQGDFIINKTTGLITIAPGVEMIVGRTYALTVQAADNAPPAERRNSICTVYIEVLPPNNQSPPRFPQLMYSLEISEAMRVGAVLLNLQATDREGDSITYAIENGDPQRVFNLSETTGILTLGKALDRESTDRYILIITASDGRPDGTSTATVNIVVTDVNDNAPVFDPYLPRNLSVVEEEANAFVGQVKATDPDAGINGQVHYSLGNFNNLFRITSNGSIYTAVKLNREVRDYYELVVVATDGAVHPRHSTLTLAIKVLDIDDNSPVFTNSTYTVLVEENLPAGTTILQIEAKDVDLGANVSYRIRSPEVKHFFALHPFTGELSLLRSLDYEAFPDQEASITFLVEAFDIYGTMPPGIATVTVIVKDMNDYPPVFSKRIYKGMVAPDAVKGTPITTVYAEDADPPGLPASRVRYRVDDVQFPYPASIFEVEEDSGRVITRVNLNEEPTTIFKLVVVAFDDGEPVMSSSATVKILVLHPGEIPRFTQEEYRPPPVSELATKGTMVGVISAAAINQSIVYSIVSGNEEDTFGINNITGVIYVNGPLDYETRTSYVLRVQADSLEVVLANLRVPSKSNTAKVYIEIQDENNHPPVFQKKFYIGGVSEDARMFTSVLRVKATDKDTGNYSVMAYRLIIPPIKEGKEGFVVETYTGLIKTAMLFHNMRRSYFKFQVIATDDYGKGLSGKADVLVSVVNQLDMQVIVSNVPPTLVEKKIEDLTEILDRYVQEQIPGAKVVVESIGARRHGDAFSLEDYTKCDLTVYAIDPQTNRAIDRNELFKFLDGKLLDINKDFQPYYGEGGRILEIRTPEAVTSIKKRGESLGYTEGALLALAFIIILCCIPAILVVLVSYRQFKVRQAECTKTARIQAALPAAKPAVPAPAPVAAPPPPPPPPPGAHLYEELGDSSMYEMPQYGSRRRLLPPAGQEEYGEVVGEAEEEYEEEEEEPKKIKKPKVEIREPSEEEEVVVTIEKPPAAEPTYTTWKRARIFPMIFKKVRGLADKRGIVDLEGEEWQRRLEEEDKDYLKLTLDQEEATESTVESEEESSSDYTEYSEEESEFSESETTEEESESETPSEEEESSTPESEESESTESEGEKARKNIVLARRRPMVEEVKEVKGRKEEPQEEQKEPKMEEEEHSEEEESGPAPVEESTDPEAQDIPEEGSAESASVEGGVESEEESESGSSSSSSESQSGGPWGYQVPAYDRSKNANQKKSPGANSEGYNTAL", "length": 1783, "header": "sp|Q96QU1-4|PCD15_HUMAN Isoform 4 of Protocadherin-15 OS=Homo sapiens OX=9606 GN=PCDH15 PE=1 SV=2 CANONICAL=Q96QU1-1" }, "locus": { "chromosome": "10", "start_pos": 54664262, "end_pos": 53808695, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000395445.6", "url": "https://www.ensembl.org/id/ENST00000395445.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000378832.2", "url": "https://www.ensembl.org/id/ENSP00000378832.2" } ] } }, { "isoform_ac": "Q96QU1-6", "url": "https://www.uniprot.org/uniprotkb/Q96QU1/entry#Q96QU1-6", "sequence": { "sequence": "MFRQFYLWTCLASGIILGSLFEICLGQYDDDCKLARGGPPATIVAIDEESRNGTILVDNMLIKGTAGGPDPTIELSLKDNVDYWVLMDPVKQMLFLNSTGRVLDRDPPMNIHSIVVQVQCINKKVGTIIYHEVRIVVRDRNDNSPTFKHESYYATVNELTPVGTTIFTGFSGDNGATDIDDGPNGQIEYVIQYNPDDPTSNDTFEIPLMLTGNIVLRKRLNYEDKTRYFVIIQANDRAQNLNERRTTTTTLTVDVLDGDDLGPMFLPCVLVPNTRDCRPLTYQAAIPELRTPEELNPIIVTPPIQAIDQDRNIQPPSDRPGILYSILVGTPEDYPRFFHMHPRTAELSLLEPVNRDFHQKFDLVIKAEQDNGHPLPAFAGLHIEILDENNQSPYFTMPSYQGYILESAPVGATISDSLNLTSPLRIVALDKDIEDTKDPELHLFLNDYTSVFTVTQTGITRYLTLLQPVDREEQQTYTFSITAFDGVQESEPVIVNIQVMDANDNTPTFPEISYDVYVYTDMRPGDSVIQLTAVDADEGSNGEITYEILVGAQGDFIINKTTGLITIAPGVEMIVGRTYALTVQAADNAPPAERRNSICTVYIEVLPPNNQSPPRFPQLMYSLEISEAMRVGAVLLNLQATDREGDSITYAIENGDPQRVFNLSETTGILTLGKALDRESTDRYILIITASDGRPDGTSTATVNIVVTDVNDNAPVFDPYLPRNLSVVEEEANAFVGQVKATDPDAGINGQVHYSLGNFNNLFRITSNGSIYTAVKLNREVRDYYELVVVATDGAVHPRHSTLTLAIKVLDIDDNSPVFTNSTYTVLVEENLPAGTTILQIEAKDVDLGANVSYRIRSPEVKHFFALHPFTGELSLLRSLDYEAFPDQEASITFLVEAFDIYGTMPPGIATVTVIVKDMNDYPPVFSKRIYKGMVAPDAVKGTPITTVYAEDADPPGLPASRVRYRVDDVQFPYPASIFEVEEDSGRVITRVNLNEEPTTIFKLVVVAFDDGEPVMSSSATVKILVLHPGEIPRFTQEEYRPPPVSELATKGTMVGVISAAAINQSIVYSIVSGNEEDTFGINNITGVIYVNGPLDYETRTSYVLRVQADSLEVVLANLRVPSKSNTAKVYIEIQDENNHPPVFQKKFYIGGVSEDARMFTSVLRVKATDKDTGNYSVMAYRLIIPPIKEGKEGFVVETYTGLIKTAMLFHNMRRSYFKFQVIATDDYGKGLSGKADVLVSVVNQLDMQVIVSNVPPTLVEKKIEDLTEILDRYVQEQIPGAKVVVESIGARRHGDAFSLEDYTKCDLTVYAIDPQTNRAIDRNELFKFLDGKLLDINKDFQPYYGEGGRILEIRTPEAVTSIKKRGESLGYTEGALLALAFIIILCCIPAILVVLVSYRQFKVRQAECTKTARIQAALPAAKPAVPAPAPVAAPPPPPPPPPGAHLYEELGDSSMYEMPQYGSRRRLLPPAGQEEYGEVVGEAEEEYEEEEWARKRMIKLVVDREYETSSTGEDSAPECQRNRLHHPSIHSNINGNIYIAQNGSVVRTRRACLTDNLKVASPVRLGGPFKKLDKLAVTHEENVPLNTLSKGPFSTEKMNARPTLVTFAPCPVGTDNTAVKPLRNRLKSTVEQESMIDSKNIKEALEFHSDHTQSDDEELWMGPWNNLHIPMTKL", "length": 1675, "header": "sp|Q96QU1-6|PCD15_HUMAN Isoform 6 of Protocadherin-15 OS=Homo sapiens OX=9606 GN=PCDH15 PE=1 SV=2 CANONICAL=Q96QU1-1" }, "locus": { "chromosome": "10", "start_pos": 54664262, "end_pos": 53806582, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000616114.4", "url": "https://www.ensembl.org/id/ENST00000616114.4" }, { "database": "Ensembl Peptide", "id": "ENSP00000483745.1", "url": "https://www.ensembl.org/id/ENSP00000483745.1" } ] } }, { "isoform_ac": "Q96QU1-7", "url": "https://www.uniprot.org/uniprotkb/Q96QU1/entry#Q96QU1-7", "sequence": { "sequence": "MFRQFYLWTCLASGIILGSLFEICLGQYDDDCKLARGGPPATIVAIDEESRNGTILVDNMLIKGTAGGPDPTIELSLKDNVDYWVLMDPVKQMLFLNSTGRVLDRDPPMNIHSIVVQVQCINKKVGTIIYHEVRIVVRDRNDNSPTFKHESYYATVNELTPVGTTIFTGFSGDNGATDIDDGPNGQIEYVIQYNPDDPTSNDTFEIPLMLTGNIVLRKRLNYEDKTRYFVIIQANDRAQNLNERRTTTTTLTVDVLDGDDLGPMFLPCVLVPNTRDCRPLTYQAAIPELRTPEELNPIIVTPPIQAIDQDRNIQPPSDRPGILYSILVGTPEDYPRFFHMHPRTAELSLLEPVNRDFHQKFDLVIKAEQDNGHPLPAFAGLHIEILDENNQSPYFTMPSYQGYILESAPVGATISDSLNLTSPLRIVALDKDIEDTKDPELHLFLNDYTSVFTVTQTGITRYLTLLQPVDREEQQTYTFSITAFDGVQESEPVIVNIQVMDANDNTPTFPEISYDVYVYTDMRPGDSVIQLTAVDADEGSNGEITYEILVGAQGDFIINKTTGLITIAPGVEMIVGRTYALTVQAADNAPPAERRNSICTVYIEVLPPNNQSPPRFPQLMYSLEISEAMRVGAVLLNLQATDREGDSITYAIENGDPQRVFNLSETTGILTLGKALDRESTDRYILIITASDGRPDGTSTATVNIVVTDVNDNAPVFDPYLPRNLSVVEEEANAFVGQVKATDPDAGINGQVHYSLGNFNNLFRITSNGSIYTAVKLNREVRDYYELVVVATDGAVHPRHSTLTLAIKVLDIDDNSPVFTNSTYTVLVEENLPAGTTILQIEAKDVDLGANVSYRIRSPEVKHFFALHPFTGELSLLRSLDYEAFPDQEASITFLVEAFDIYGTMPPGIATVTVIVKDMNDYPPVFSKRIYKGMVAPDAVKGTPITTVYAEDADPPGLPASRVRYRVDDVQFPYPASIFEVEEDSGRVITRVNLNEEPTTIFKLVVVAFDDGEPVMSSSATVKILVLHPGEIPRFTQEEYRPPPVSELATKGTMVGVISAAAINQSIVYSIVSGNEEDTFGINNITGVIYVNGPLDYETRTSYVLRVQADSLEVVLANLRVPSKSNTAKVYIEIQDENNHPPVFQKKFYIGGVSEDARMFTSVLRVKATDKDTGNYSVMAYRLIIPPIKEGKEGFVVETYTGLIKTAMLFHNMRRSYFKFQVIATDDYGKGLSGKADVLVSVVNQLDMQVIVSNVPPTLVEKKIEDLTEILDRYVQEQIPGAKVVVESIGARRHGDAFSLEDYTKCDLTVYAIDPQTNRAIDRNELFKFLDGKLLDINKDFQPYYGEGGRILEIRTPEAVTSIKKRGESLGYTEGALLALAFIIILCCIPAILVVLVSYRQFKVRQAECTKTARIQAALPAAKPAVPAPAPVAAPPPPPPPPPGAHLYEELGDSSIWSFCWQLVICMRTCAIWRTLTRRGYGSEQQQLLRPSLLKPEELSMESGIDPGQEYGQDYYSYEHGYEMPQYGSRRRLLPPAGQEEYGEVVGEAEEEYEEEEWARKRMIKLVVDREYETSSTGEDSAPECQRNRLHHPSIHSNINGNIYIAQNGSVVRTRRACLTDNLKVASPVRLGGPFKKLDKLAVTHEENVPLNTLSKGPFSTEKMNARPTLVTFAPCPVGTDNTAVKPLRNRLKSTVEQESMIDSKNIKEALEFHSDHTQSDDEELWMGPWNNLHIPMTKL", "length": 1740, "header": "sp|Q96QU1-7|PCD15_HUMAN Isoform 7 of Protocadherin-15 OS=Homo sapiens OX=9606 GN=PCDH15 PE=1 SV=2 CANONICAL=Q96QU1-1" }, "locus": { "chromosome": "10", "start_pos": 54664262, "end_pos": 53806582, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000644397.2", "url": "https://www.ensembl.org/id/ENST00000644397.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000495195.1", "url": "https://www.ensembl.org/id/ENSP00000495195.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "other", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 1064, "start_aa": "Asn", "end_pos": 1064, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1064", "evidence": [ { "id": "Q96QU1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q96QU1#ptm_processing" } ], "filter_code": "00100000000000000000.00010000000000.0.01001" }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "other", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 1084, "start_aa": "Asn", "end_pos": 1084, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1084", "evidence": [ { "id": "Q96QU1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q96QU1#ptm_processing" } ], "filter_code": "00100000000000000000.00010000000000.0.01001" }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "other", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 1175, "start_aa": "Asn", "end_pos": 1175, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1175", "evidence": [ { "id": "Q96QU1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q96QU1#ptm_processing" } ], "filter_code": "00100000000000000000.00010000000000.0.01001" }, { "glytoucan_ac": "", "type": "O-linked", "subtype": "other", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1807, "start_aa": "Thr", "end_pos": 1807, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1807", "evidence": [ { "id": "GLY_001151", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001151" } ], "filter_code": "00000000000000001000.00000000001000.0.01001" }, { "glytoucan_ac": "", "type": "O-linked", "subtype": "other", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1816, "start_aa": "Thr", "end_pos": 1816, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1816", "evidence": [ { "id": "GLY_001151", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001151" } ], "filter_code": "00000000000000001000.00000000001000.0.01001" }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "other", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 201, "start_aa": "Asn", "end_pos": 201, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn201", "evidence": [ { "id": "Q96QU1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q96QU1#ptm_processing" } ], "filter_code": "00100000000000000000.00010000000000.0.01001" }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "other", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 419, "start_aa": "Asn", "end_pos": 419, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn419", "evidence": [ { "id": "Q96QU1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q96QU1#ptm_processing" } ], "filter_code": "00100000000000000000.00010000000000.0.01001" }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "other", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 52, "start_aa": "Asn", "end_pos": 52, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn52", "evidence": [ { "id": "Q96QU1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q96QU1#ptm_processing" } ], "filter_code": "00100000000000000000.00010000000000.0.01001" }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "other", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 559, "start_aa": "Asn", "end_pos": 559, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn559", "evidence": [ { "id": "Q96QU1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q96QU1#ptm_processing" } ], "filter_code": "00100000000000000000.00010000000000.0.01001" }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "other", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 662, "start_aa": "Asn", "end_pos": 662, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn662", "evidence": [ { "id": "Q96QU1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q96QU1#ptm_processing" } ], "filter_code": "00100000000000000000.00010000000000.0.01001" }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "other", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 724, "start_aa": "Asn", "end_pos": 724, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn724", "evidence": [ { "id": "Q96QU1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q96QU1#ptm_processing" } ], "filter_code": "00100000000000000000.00010000000000.0.01001" }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "other", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 768, "start_aa": "Asn", "end_pos": 768, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn768", "evidence": [ { "id": "Q96QU1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q96QU1#ptm_processing" } ], "filter_code": "00100000000000000000.00010000000000.0.01001" }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "other", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 821, "start_aa": "Asn", "end_pos": 821, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn821", "evidence": [ { "id": "Q96QU1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q96QU1#ptm_processing" } ], "filter_code": "00100000000000000000.00010000000000.0.01001" }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "other", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 851, "start_aa": "Asn", "end_pos": 851, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn851", "evidence": [ { "id": "Q96QU1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q96QU1#ptm_processing" } ], "filter_code": "00100000000000000000.00010000000000.0.01001" }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "other", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 97, "start_aa": "Asn", "end_pos": 97, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn97", "evidence": [ { "id": "Q96QU1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q96QU1#ptm_processing" } ], "filter_code": "00100000000000000000.00010000000000.0.01001" } ], "phosphorylation": [ { "start_pos": 879, "end_pos": 879, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "IEDB", "id": "Q96QU1", "url": "https://www.iedb.org/epitope/Q96QU1" }, { "database": "iPTMnet", "id": "Q96QU1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q96QU1" }, { "database": "PubMed", "id": "35494241", "url": "https://glygen.org/publication/PubMed/35494241" } ], "site_lbl": "Ser879" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_predicted" ], "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" } ] }, { "title": "RIBEYE, a component of synaptic ribbons: a protein's journey through evolution provides insight into synaptic ribbon function.", "journal": "Neuron", "date": "2000", "authors": "Schmitz F, Konigstorfer A, Sudhof TC", "evidence": [ { "database": "Reactome", "id": "R-HSA-9662360", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9662360" } ], "reference": [ { "type": "PubMed", "id": "11163272", "url": "https://glygen.org/publication/PubMed/11163272" } ] }, { "title": "Initial sequencing and analysis of the human genome.", "journal": "Nature", "date": "2001", "authors": "Lander ES, Linton LM, Birren B, Nusbaum C, Zody MC, Baldwin J, Devon K, Dewar K, Doyle M, FitzHugh W, Funke R, Gage D, Harris K, Heaford A, Howland J, Kann L, Lehoczky J, LeVine R, McEwan P, McKernan K, Meldrim J, Mesirov JP, Miranda C, Morris W, Naylor J, Raymond C, Rosetti M, Santos R, Sheridan A, Sougnez C, Stange-Thomann Y, Stojanovic N, Subramanian A, Wyman D, Rogers J, Sulston J, Ainscough R, Beck S, Bentley D, Burton J, Clee C, Carter N, Coulson A, Deadman R, Deloukas P, Dunham A, Dunham I, Durbin R, French L, Grafham D, Gregory S, Hubbard T, Humphray S, Hunt A, Jones M, Lloyd C, McMurray A, Matthews L, Mercer S, Milne S, Mullikin JC, Mungall A, Plumb R, Ross M, Shownkeen R, Sims S, Waterston RH, Wilson RK, Hillier LW, McPherson JD, Marra MA, Mardis ER, Fulton LA, Chinwalla AT, Pepin KH, Gish WR, Chissoe SL, Wendl MC, Delehaunty KD, Miner TL, Delehaunty A, Kramer JB, Cook LL, Fulton RS, Johnson DL, Minx PJ, Clifton SW, Hawkins T, Branscomb E, Predki P, Richardson P, Wenning S, Slezak T, Doggett N, Cheng JF, Olsen A, Lucas S, Elkin C, Uberbacher E, Frazier M, Gibbs RA, Muzny DM, Scherer SE, Bouck JB, Sodergren EJ, Worley KC, Rives CM, Gorrell JH, Metzker ML, Naylor SL, Kucherlapati RS, Nelson DL, Weinstock GM, Sakaki Y, Fujiyama A, Hattori M, Yada T, Toyoda A, Itoh T, Kawagoe C, Watanabe H, Totoki Y, Taylor T, Weissenbach J, Heilig R, Saurin W, Artiguenave F, Brottier P, Bruls T, Pelletier E, Robert C, Wincker P, Smith DR, Doucette-Stamm L, Rubenfield M, Weinstock K, Lee HM, Dubois J, Rosenthal A, Platzer M, Nyakatura G, Taudien S, Rump A, Yang H, Yu J, Wang J, Huang G, Gu J, Hood L, Rowen L, Madan A, Qin S, Davis RW, Federspiel NA, Abola AP, Proctor MJ, Myers RM, Schmutz J, Dickson M, Grimwood J, Cox DR, Olson MV, Kaul R, Raymond C, Shimizu N, Kawasaki K, Minoshima S, Evans GA, Athanasiou M, Schultz R, Roe BA, Chen F, Pan H, Ramser J, Lehrach H, Reinhardt R, McCombie WR, de la Bastide M, Dedhia N, Blocker H, Hornischer K, Nordsiek G, Agarwala R, Aravind L, Bailey JA, Bateman A, Batzoglou S, Birney E, Bork P, Brown DG, Burge CB, Cerutti L, Chen HC, Church D, Clamp M, Copley RR, Doerks T, Eddy SR, Eichler EE, Furey TS, Galagan J, Gilbert JG, Harmon C, Hayashizaki Y, Haussler D, Hermjakob H, Hokamp K, Jang W, Johnson LS, Jones TA, Kasif S, Kaspryzk A, Kennedy S, Kent WJ, Kitts P, Koonin EV, Korf I, Kulp D, Lancet D, Lowe TM, McLysaght A, Mikkelsen T, Moran JV, Mulder N, Pollara VJ, Ponting CP, Schuler G, Schultz J, Slater G, Smit AF, Stupka E, Szustakowki J, Thierry-Mieg D, Thierry-Mieg J, Wagner L, Wallis J, Wheeler R, Williams A, Wolf YI, Wolfe KH, Yang SP, Yeh RF, Collins F, Guyer MS, Peterson J, Felsenfeld A, Wetterstrand KA, Patrinos A, Morgan MJ, de Jong P, Catanese JJ, Osoegawa K, Shizuya H, Choi S, Chen YJ, Szustakowki J", "evidence": [ { "database": "UniProtKB", "id": "E7EM97", "url": "https://www.uniprot.org/uniprotkb/E7EM97" } ], "reference": [ { "type": "PubMed", "id": "11237011", "url": "https://glygen.org/publication/PubMed/11237011" } ] }, { "title": "Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F.", "journal": "Am. J. Hum. Genet.", "date": "2001", "authors": "Ahmed ZM, Riazuddin S, Bernstein SL, Ahmed Z, Khan S, Griffith AJ, Morell RJ, Friedman TB, Riazuddin S, Wilcox ER", "evidence": [ { "database": "UniProtKB", "id": "Q96QU1", "url": "https://www.uniprot.org/uniprotkb/Q96QU1" } ], "reference": [ { "type": "PubMed", "id": "11398101", "url": "https://glygen.org/publication/PubMed/11398101" } ] }, { "title": "Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F.", "journal": "Hum. Mol. Genet.", "date": "2001", "authors": "Alagramam KN, Yuan H, Kuehn MH, Murcia CL, Wayne S, Srisailpathy CR, Lowry RB, Knaus R, Van Laer L, Bernier FP, Schwartz S, Lee C, Morton CC, Mullins RF, Ramesh A, Van Camp G, Hageman GS, Woychik RP, Smith RJ", "evidence": [ { "database": "UniProtKB", "id": "Q96QU1", "url": "https://www.uniprot.org/uniprotkb/Q96QU1" }, { "database": "RefSeq", "id": "NP_149045", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_149045" } ], "reference": [ { "type": "PubMed", "id": "11487575", "url": "https://glygen.org/publication/PubMed/11487575" } ] }, { "title": "PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23.", "journal": "Human molecular genetics", "date": "2003", "authors": "Ahmed ZM, Riazuddin S, Ahmad J, Bernstein SL, Guo Y, Sabar MF, Sieving P, Riazuddin S, Griffith AJ, Friedman TB, Belyantseva IA, Wilcox ER", "evidence": [ { "database": "UniProtKB", "id": "Q96QU1", "url": "https://www.uniprot.org/uniprotkb/Q96QU1" } ], "reference": [ { "type": "PubMed", "id": "14570705", "url": "https://glygen.org/publication/PubMed/14570705" } ] }, { "title": "Digenic inheritance of deafness caused by mutations in genes encoding cadherin 23 and protocadherin 15 in mice and humans.", "journal": "Hum. Mol. Genet.", "date": "2005", "authors": "Zheng QY, Yan D, Ouyang XM, Du LL, Yu H, Chang B, Johnson KR, Liu XZ", "evidence": [ { "database": "UniProtKB", "id": "Q96QU1", "url": "https://www.uniprot.org/uniprotkb/Q96QU1" } ], "reference": [ { "type": "PubMed", "id": "15537665", "url": "https://glygen.org/publication/PubMed/15537665" } ] }, { "title": "Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population.", "journal": "Human genetics", "date": "2005", "authors": "Ouyang XM, Yan D, Du LL, Hejtmancik JF, Jacobson SG, Nance WE, Li AR, Angeli S, Kaiser M, Newton V, Brown SD, Balkany T, Liu XZ", "evidence": [ { "database": "UniProtKB", "id": "Q96QU1", "url": "https://www.uniprot.org/uniprotkb/Q96QU1" } ], "reference": [ { "type": "PubMed", "id": "15660226", "url": "https://glygen.org/publication/PubMed/15660226" } ] }, { "title": "Protocadherin 15 (PCDH15): a new secreted isoform and a potential marker for NK/T cell lymphomas.", "journal": "Oncogene", "date": "2006", "authors": "Rouget-Quermalet V, Giustiniani J, Marie-Cardine A, Beaud G, Besnard F, Loyaux D, Ferrara P, Leroy K, Shimizu N, Gaulard P, Bensussan A, Schmitt C", "evidence": [ { "database": "UniProtKB", "id": "Q96QU1", "url": "https://www.uniprot.org/uniprotkb/Q96QU1" } ], "reference": [ { "type": "PubMed", "id": "16369489", "url": "https://glygen.org/publication/PubMed/16369489" } ] }, { "title": "Promoter, alternative splice forms, and genomic structure of protocadherin 15.", "journal": "Genomics", "date": "2007", "authors": "Alagramam KN, Miller ND, Adappa ND, Pitts DR, Heaphy JC, Yuan H, Smith RJ", "evidence": [ { "database": "RefSeq", "id": "NP_149045", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_149045" } ], "reference": [ { "type": "PubMed", "id": "17706913", "url": "https://glygen.org/publication/PubMed/17706913" } ] }, { "title": "Gene structure and mutant alleles of PCDH15: nonsyndromic deafness DFNB23 and type 1 Usher syndrome.", "journal": "Human genetics", "date": "2008", "authors": "Ahmed ZM, Riazuddin S, Aye S, Ali RA, Venselaar H, Anwar S, Belyantseva PP, Qasim M, Riazuddin S, Friedman TB", "evidence": [ { "database": "UniProtKB", "id": "Q96QU1", "url": "https://www.uniprot.org/uniprotkb/Q96QU1" }, { "database": "RefSeq", "id": "NP_149045", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_149045" } ], "reference": [ { "type": "PubMed", "id": "18719945", "url": "https://glygen.org/publication/PubMed/18719945" } ] }, { "title": "Mutation screening of the PCDH15 gene in Spanish patients with Usher syndrome type I.", "journal": "Molecular vision", "date": "2012", "authors": "Jaijo T, Oshima A, Aller E, Carney C, Usami S, Millan JM, Kimberling WJ", "evidence": [ { "database": "UniProtKB", "id": "Q96QU1", "url": "https://www.uniprot.org/uniprotkb/Q96QU1" } ], "reference": [ { "type": "PubMed", "id": "22815625", "url": "https://glygen.org/publication/PubMed/22815625" } ] }, { "title": "Revisiting the arthritogenic peptide theory: quantitative not qualitative changes in the peptide repertoire of HLA-B27 allotypes.", "journal": "Arthritis & rheumatology (Hoboken, N.J.)", "date": "2015-03", "authors": "Schittenhelm Ralf B, Sian Terry C C Lim Kam, Wilmann Pascal G, Dudek Nadine L, Purcell Anthony W", "evidence": [ { "database": "IEDB", "id": "493424", "url": "https://www.iedb.org/epitope/493424" } ], "reference": [ { "type": "PubMed", "id": "25418920", "url": "https://glygen.org/publication/PubMed/25418920" } ] }, { "title": "Exploration of peptides bound to MHC class I molecules in melanoma.", "journal": "Pigment cell & melanoma research", "date": "2015-05", "authors": "Pritchard Antonia L, Hastie Marcus L, Neller Michelle, Gorman Jeffrey J, Schmidt Chris W, Hayward Nicholas K", "evidence": [ { "database": "IEDB", "id": "544001", "url": "https://www.iedb.org/epitope/544001" } ], "reference": [ { "type": "PubMed", "id": "25645385", "url": "https://glygen.org/publication/PubMed/25645385" } ] }, { "title": "An open-source computational and data resource to analyze digital maps of immunopeptidomes.", "journal": "eLife", "date": "2015-07-08", "authors": "Caron Etienne, Espona Lucia, Kowalewski Daniel J, Schuster Heiko, Ternette Nicola, Alp\u00edzar Ad\u00e1n, Schittenhelm Ralf B, Ramarathinam Sri H, Lindestam Arlehamn Cecilia S, Chiek Koh Ching, Gillet Ludovic C, Rabsteyn Armin, Navarro Pedro, Kim Sangtae, Lam Henry, Sturm Theo, Marcilla Miguel, Sette Alessandro, Campbell David S, Deutsch Eric W, Moritz Robert L, Purcell Anthony W, Rammensee Hans-Georg, Stevanovic Stefan, Aebersold Ruedi", "evidence": [ { "database": "IEDB", "id": "444827", "url": "https://www.iedb.org/epitope/444827" } ], "reference": [ { "type": "PubMed", "id": "26154972", "url": "https://glygen.org/publication/PubMed/26154972" } ] }, { "title": "Mass Spectrometry Profiling of HLA-Associated Peptidomes in Mono-allelic Cells Enables More Accurate Epitope Prediction.", "journal": "Immunity", "date": "2017-02-21", "authors": "Abelin Jennifer G, Keskin Derin B, Sarkizova Siranush, Hartigan Christina R, Zhang Wandi, Sidney John, Stevens Jonathan, Lane William, Zhang Guang Lan, Eisenhaure Thomas M, Clauser Karl R, Hacohen Nir, Rooney Michael S, Carr Steven A, Wu Catherine J", "evidence": [ { "database": "IEDB", "id": "544001", "url": "https://www.iedb.org/epitope/544001" } ], "reference": [ { "type": "PubMed", "id": "28228285", "url": "https://glygen.org/publication/PubMed/28228285" } ] }, { "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": "Q96QU1", "url": "https://www.uniprot.org/uniprotkb/Q96QU1" } ], "reference": [ { "type": "PubMed", "id": "28281779", "url": "https://glygen.org/publication/PubMed/28281779" } ] }, { "title": "The Intergenic Recombinant HLA-B *46:01 Has a Distinctive Peptidome that Includes KIR2DL3 Ligands.", "journal": "Cell reports", "date": "2017", "authors": "Hilton HG, McMurtrey CP, Han AS, Djaoud Z, Guethlein LA, Blokhuis JH, Pugh JL, Goyos A, Horowitz A, Buchli R, Jackson KW, Bardet W, Bushnell DA, Robinson PJ, Mendoza JL, Birnbaum ME, Nielsen M, Garcia KC, Hildebrand WH, Parham P", "evidence": [ { "database": "IEDB", "id": "651086", "url": "https://www.iedb.org/epitope/651086" }, { "database": "IEDB", "id": "651884", "url": "https://www.iedb.org/epitope/651884" } ], "reference": [ { "type": "PubMed", "id": "28514659", "url": "https://glygen.org/publication/PubMed/28514659" } ] }, { "title": "The natural HLA ligandome of glioblastoma stem-like cells: antigen discovery for T cell-based immunotherapy.", "journal": "Acta neuropathologica", "date": "2018-06", "authors": "Neidert Marian Christoph, Kowalewski Daniel Johannes, Silginer Manuela, Kapolou Konstantina, Backert Linus, Freudenmann Lena Katharina, Peper Janet Kerstin, Marcu Ana, Wang Sophie Shih-Y\u00fcng, Walz Juliane Sarah, Wolpert Fabian, Rammensee Hans-Georg, Henschler Reinhard, Lamszus Katrin, Westphal Manfred, Roth Patrick, Regli Luca, Stevanovi\u0107 Stefan, Weller Michael, Eisele G\u00fcnter", "evidence": [ { "database": "IEDB", "id": "544001", "url": "https://www.iedb.org/epitope/544001" }, { "database": "IEDB", "id": "1089173", "url": "https://www.iedb.org/epitope/1089173" }, { "database": "IEDB", "id": "1092309", "url": "https://www.iedb.org/epitope/1092309" } ], "reference": [ { "type": "PubMed", "id": "29557506", "url": "https://glygen.org/publication/PubMed/29557506" } ] }, { "title": "HLA ligandome analysis of primary chronic lymphocytic leukemia (CLL) cells under lenalidomide treatment confirms the suitability of lenalidomide for combination with T-cell-based immunotherapy.", "journal": "Oncoimmunology", "date": "2018", "authors": "Nelde Annika, Kowalewski Daniel J, Backert Linus, Schuster Heiko, Werner Jan-Ole, Klein Reinhild, Kohlbacher Oliver, Kanz Lothar, Salih Helmut R, Rammensee Hans-Georg, Stevanovi\u0107 Stefan, Walz Juliane S", "evidence": [ { "database": "IEDB", "id": "763761", "url": "https://www.iedb.org/epitope/763761" }, { "database": "IEDB", "id": "766817", "url": "https://www.iedb.org/epitope/766817" } ], "reference": [ { "type": "PubMed", "id": "29632711", "url": "https://glygen.org/publication/PubMed/29632711" } ] }, { "title": "Chemical Derivatization Strategy for Extending the Identification of MHC Class I Immunopeptides.", "journal": "Analytical chemistry", "date": "2018-10-02", "authors": "Chen Rui, Fauteux Francois, Foote Simon, Stupak Jacek, Tremblay Tammy-Lynn, Gurnani Komal, Fulton Kelly M, Weeratna Risini D, Twine Susan M, Li Jianjun", "evidence": [ { "database": "IEDB", "id": "864561", "url": "https://www.iedb.org/epitope/864561" } ], "reference": [ { "type": "PubMed", "id": "30192525", "url": "https://glygen.org/publication/PubMed/30192525" } ] }, { "title": "Multiplexed Relative Quantitation with Isobaric Tagging Mass Spectrometry Reveals Class I Major Histocompatibility Complex Ligand Dynamics in Response to Doxorubicin.", "journal": "Analytical chemistry", "date": "2019-04-16", "authors": "Murphy J Patrick, Yu Qijia, Konda Prathyusha, Paulo Joao A, Jedrychowski Mark P, Kowalewski Daniel J, Schuster Heiko, Kim Youra, Clements Derek, Jain Aditya, Stevanovic Stefan, Gygi Steven P, Mancias Joseph D, Gujar Shashi", "evidence": [ { "database": "IEDB", "id": "544001", "url": "https://www.iedb.org/epitope/544001" } ], "reference": [ { "type": "PubMed", "id": "30779550", "url": "https://glygen.org/publication/PubMed/30779550" } ] }, { "title": "A large peptidome dataset improves HLA class I epitope prediction across most of the human population.", "journal": "Nature biotechnology", "date": "2020-02", "authors": "Sarkizova Siranush, Klaeger Susan, Le Phuong M, Li Letitia W, Oliveira Giacomo, Keshishian Hasmik, Hartigan Christina R, Zhang Wandi, Braun David A, Ligon Keith L, Bachireddy Pavan, Zervantonakis Ioannis K, Rosenbluth Jennifer M, Ouspenskaia Tamara, Law Travis, Justesen Sune, Stevens Jonathan, Lane William J, Eisenhaure Thomas, Lan Zhang Guang, Clauser Karl R, Hacohen Nir, Carr Steven A, Wu Catherine J, Keskin Derin B", "evidence": [ { "database": "IEDB", "id": "544001", "url": "https://www.iedb.org/epitope/544001" }, { "database": "IEDB", "id": "929549", "url": "https://www.iedb.org/epitope/929549" }, { "database": "IEDB", "id": "1037138", "url": "https://www.iedb.org/epitope/1037138" }, { "database": "IEDB", "id": "1057594", "url": "https://www.iedb.org/epitope/1057594" } ], "reference": [ { "type": "PubMed", "id": "31844290", "url": "https://glygen.org/publication/PubMed/31844290" } ] }, { "title": "Immunopeptidomic Analysis Reveals That Deamidated HLA-bound Peptides Arise Predominantly from Deglycosylated Precursors.", "journal": "Molecular & cellular proteomics : MCP", "date": "2020-07", "authors": "Mei Shutao, Ayala Rochelle, Ramarathinam Sri H, Illing Patricia T, Faridi Pouya, Song Jiangning, Purcell Anthony W, Croft Nathan P", "evidence": [ { "database": "IEDB", "id": "544001", "url": "https://www.iedb.org/epitope/544001" } ], "reference": [ { "type": "PubMed", "id": "32357974", "url": "https://glygen.org/publication/PubMed/32357974" } ] }, { "title": "In-depth mining of the immunopeptidome of an acute myeloid leukemia cell line using complementary ligand enrichment and data acquisition strategies.", "journal": "Molecular immunology", "date": "2020-07", "authors": "Pandey Kirti, Mifsud Nicole A, Lim Kam Sian Terry C C, Ayala Rochelle, Ternette Nicola, Ramarathinam Sri H, Purcell Anthony W", "evidence": [ { "database": "IEDB", "id": "1349674", "url": "https://www.iedb.org/epitope/1349674" }, { "database": "IEDB", "id": "1361354", "url": "https://www.iedb.org/epitope/1361354" }, { "database": "IEDB", "id": "1371703", "url": "https://www.iedb.org/epitope/1371703" } ], "reference": [ { "type": "PubMed", "id": "32387766", "url": "https://glygen.org/publication/PubMed/32387766" } ] }, { "title": "Extending the Comprehensiveness of Immunopeptidome Analyses Using Isobaric Peptide Labeling.", "journal": "Analytical chemistry", "date": "2020-07-07", "authors": "Pfammatter Sibylle, Bonneil Eric, Lanoix Joel, Vincent Krystel, Hardy Marie-Pierre, Courcelles Mathieu, Perreault Claude, Thibault Pierre", "evidence": [ { "database": "IEDB", "id": "544001", "url": "https://www.iedb.org/epitope/544001" } ], "reference": [ { "type": "PubMed", "id": "32502341", "url": "https://glygen.org/publication/PubMed/32502341" } ] }, { "title": "Spliced Peptides and Cytokine-Driven Changes in the Immunopeptidome of Melanoma.", "journal": "Cancer immunology research", "date": "2020-10", "authors": "Faridi Pouya, Woods Katherine, Ostrouska Simone, Deceneux Cyril, Aranha Ritchlynn, Duscharla Divya, Wong Stephen Q, Chen Weisan, Ramarathinam Sri H, Lim Kam Sian Terry C C, Croft Nathan P, Li Chen, Ayala Rochelle, Cebon Jonathan S, Purcell Anthony W, Schittenhelm Ralf B, Behren Andreas", "evidence": [ { "database": "IEDB", "id": "1990488", "url": "https://www.iedb.org/epitope/1990488" } ], "reference": [ { "type": "PubMed", "id": "32938616", "url": "https://glygen.org/publication/PubMed/32938616" } ] }, { "title": "Mild Acid Elution and MHC Immunoaffinity Chromatography Reveal Similar Albeit Not Identical Profiles of the HLA Class I Immunopeptidome.", "journal": "Journal of proteome research", "date": "2021-01-01", "authors": "Sturm Theo, Sautter Benedikt, W\u00f6rner Tobias P, Stevanovi\u0107 Stefan, Rammensee Hans-Georg, Planz Oliver, Heck Albert J R, Aebersold Ruedi", "evidence": [ { "database": "IEDB", "id": "1338062", "url": "https://www.iedb.org/epitope/1338062" } ], "reference": [ { "type": "PubMed", "id": "33141586", "url": "https://glygen.org/publication/PubMed/33141586" } ] }, { "title": "The Impact of Biomaterial Cell Contact on the Immunopeptidome.", "journal": "Frontiers in bioengineering and biotechnology", "date": "2020", "authors": "Ghosh Michael, Hartmann Hanna, Jakobi Meike, M\u00e4rz L\u00e9o, Bichmann Leon, Freudenmann Lena K, M\u00fchlenbruch Lena, Segan S\u00f6ren, Rammensee Hans-Georg, Schneiderhan-Marra Nicole, Shipp Christopher, Stevanovi\u0107 Stefan, Joos Thomas O", "evidence": [ { "database": "IEDB", "id": "1338062", "url": "https://www.iedb.org/epitope/1338062" } ], "reference": [ { "type": "PubMed", "id": "33392160", "url": "https://glygen.org/publication/PubMed/33392160" } ] }, { "title": "CIITA-Transduced Glioblastoma Cells Uncover a Rich Repertoire of Clinically Relevant Tumor-Associated HLA-II Antigens.", "journal": "Molecular & cellular proteomics : MCP", "date": "2021", "authors": "Forlani Greta, Michaux Justine, Pak HuiSong, Huber Florian, Marie Joseph Elodie Lauret, Ramia Elise, Stevenson Brian J, Linnebacher Michael, Accolla Roberto S, Bassani-Sternberg Michal", "evidence": [ { "database": "IEDB", "id": "958292", "url": "https://www.iedb.org/epitope/958292" } ], "reference": [ { "type": "PubMed", "id": "33592498", "url": "https://glygen.org/publication/PubMed/33592498" } ] }, { "title": "NMD inhibition by 5-azacytidine augments presentation of immunogenic frameshift-derived neoepitopes.", "journal": "iScience", "date": "2021-04-23", "authors": "Becker Jonas P, Helm Dominic, Rettel Mandy, Stein Frank, Hernandez-Sanchez Alejandro, Urban Katharina, Gebert Johannes, Kloor Matthias, Neu-Yilik Gabriele, von Knebel Doeberitz Magnus, Hentze Matthias W, Kulozik Andreas E", "evidence": [ { "database": "IEDB", "id": "544001", "url": "https://www.iedb.org/epitope/544001" } ], "reference": [ { "type": "PubMed", "id": "33981976", "url": "https://glygen.org/publication/PubMed/33981976" } ] }, { "title": "Immunopeptidogenomics: Harnessing RNA-Seq to Illuminate the Dark Immunopeptidome.", "journal": "Molecular & cellular proteomics : MCP", "date": "2021", "authors": "Scull Katherine E, Pandey Kirti, Ramarathinam Sri H, Purcell Anthony W", "evidence": [ { "database": "IEDB", "id": "1349674", "url": "https://www.iedb.org/epitope/1349674" }, { "database": "IEDB", "id": "1852673", "url": "https://www.iedb.org/epitope/1852673" } ], "reference": [ { "type": "PubMed", "id": "34509645", "url": "https://glygen.org/publication/PubMed/34509645" } ] }, { "title": "Immunopeptidomic analysis of influenza A virus infected human tissues identifies internal proteins as a rich source of HLA ligands.", "journal": "PLoS pathogens", "date": "2022-01", "authors": "Nicholas Ben, Bailey Alistair, Staples Karl J, Wilkinson Tom, Elliott Tim, Skipp Paul", "evidence": [ { "database": "IEDB", "id": "544001", "url": "https://www.iedb.org/epitope/544001" }, { "database": "IEDB", "id": "2003440", "url": "https://www.iedb.org/epitope/2003440" }, { "database": "IEDB", "id": "2003789", "url": "https://www.iedb.org/epitope/2003789" }, { "database": "IEDB", "id": "2010403", "url": "https://www.iedb.org/epitope/2010403" }, { "database": "IEDB", "id": "2013015", "url": "https://www.iedb.org/epitope/2013015" }, { "database": "IEDB", "id": "2013514", "url": "https://www.iedb.org/epitope/2013514" }, { "database": "IEDB", "id": "2016723", "url": "https://www.iedb.org/epitope/2016723" }, { "database": "IEDB", "id": "2019769", "url": "https://www.iedb.org/epitope/2019769" }, { "database": "IEDB", "id": "2022036", "url": "https://www.iedb.org/epitope/2022036" }, { "database": "IEDB", "id": "2022671", "url": "https://www.iedb.org/epitope/2022671" }, { "database": "IEDB", "id": "2023647", "url": "https://www.iedb.org/epitope/2023647" }, { "database": "IEDB", "id": "2025548", "url": "https://www.iedb.org/epitope/2025548" }, { "database": "IEDB", "id": "2025550", "url": "https://www.iedb.org/epitope/2025550" }, { "database": "IEDB", "id": "2029775", "url": "https://www.iedb.org/epitope/2029775" }, { "database": "IEDB", "id": "2035483", "url": "https://www.iedb.org/epitope/2035483" }, { "database": "IEDB", "id": "2037532", "url": "https://www.iedb.org/epitope/2037532" }, { "database": "IEDB", "id": "2038148", "url": "https://www.iedb.org/epitope/2038148" }, { "database": "IEDB", "id": "2043041", "url": "https://www.iedb.org/epitope/2043041" }, { "database": "IEDB", "id": "2044230", "url": "https://www.iedb.org/epitope/2044230" }, { "database": "IEDB", "id": "2044795", "url": "https://www.iedb.org/epitope/2044795" }, { "database": "IEDB", "id": "2045334", "url": "https://www.iedb.org/epitope/2045334" }, { "database": "IEDB", "id": "2053004", "url": "https://www.iedb.org/epitope/2053004" }, { "database": "IEDB", "id": "2053690", "url": "https://www.iedb.org/epitope/2053690" }, { "database": "IEDB", "id": "2055268", "url": "https://www.iedb.org/epitope/2055268" }, { "database": "IEDB", "id": "2056309", "url": "https://www.iedb.org/epitope/2056309" }, { "database": "IEDB", "id": "2056770", "url": "https://www.iedb.org/epitope/2056770" }, { "database": "IEDB", "id": "2056797", "url": "https://www.iedb.org/epitope/2056797" }, { "database": "IEDB", "id": "2057007", "url": "https://www.iedb.org/epitope/2057007" }, { "database": "IEDB", "id": "2057037", "url": "https://www.iedb.org/epitope/2057037" }, { "database": "IEDB", "id": "2057162", "url": "https://www.iedb.org/epitope/2057162" }, { "database": "IEDB", "id": "2060068", "url": "https://www.iedb.org/epitope/2060068" }, { "database": "IEDB", "id": "2060586", "url": "https://www.iedb.org/epitope/2060586" } ], "reference": [ { "type": "PubMed", "id": "35051231", "url": "https://glygen.org/publication/PubMed/35051231" } ] }, { "title": "Deciphering the landscape of phosphorylated HLA-II ligands.", "journal": "iScience", "date": "2022-05-20", "authors": "Solleder Marthe, Racle Julien, Guillaume Philippe, Coukos George, Bassani-Sternberg Michal, Gfeller David", "evidence": [ { "database": "iPTMnet", "id": "Q96QU1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q96QU1" } ], "reference": [ { "type": "PubMed", "id": "35494241", "url": "https://glygen.org/publication/PubMed/35494241" } ] }, { "title": "Immunopeptidomics-based design of mRNA vaccine formulations against Listeria monocytogenes.", "journal": "Nature communications", "date": "2022-10-14", "authors": "Mayer Rupert L, Verbeke Rein, Asselman Caroline, Aernout Ilke, Gul Adillah, Eggermont Denzel, Boucher Katie, Thery Fabien, Maia Teresa M, Demol Hans, Gabriels Ralf, Martens Lennart, B\u00e9cavin Christophe, De Smedt Stefaan C, Vandekerckhove Bart, Lentacker Ine, Impens Francis", "evidence": [ { "database": "IEDB", "id": "544001", "url": "https://www.iedb.org/epitope/544001" } ], "reference": [ { "type": "PubMed", "id": "36241641", "url": "https://glygen.org/publication/PubMed/36241641" } ] }, { "title": "A novel compound heterozygous PCDH15 variants is associated with arRP in a Chinese pedigree.", "journal": "BMC ophthalmology", "date": "2024-08-26", "authors": "Yang Hong, Zhang Ya-Juan, Zhu Li, Zheng Wei-Yi, Shi Mei-Yu, Zhao Wen-Rui, Zhao Hong-Chao", "evidence": [ { "database": "RefSeq", "id": "NP_149045", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_149045" } ], "reference": [ { "type": "PubMed", "id": "39187782", "url": "https://glygen.org/publication/PubMed/39187782" } ] }, { "title": "Nanomechanics of wild-type and mutant dimers of the inner-ear tip-link protein protocadherin 15.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2024-10", "authors": "Villasante Camila M, Deng Xinyue, Cohen Joel E, Hudspeth A J", "evidence": [ { "database": "RefSeq", "id": "NP_149045", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_149045" } ], "reference": [ { "type": "PubMed", "id": "39298473", "url": "https://glygen.org/publication/PubMed/39298473" } ] } ], "pathway": [ { "id": "hsa:65217", "name": "", "url": "https://www.genome.jp/dbget-bin/www_bget?hsa:65217", "resource": "KEGG Pathway" }, { "id": "R-HSA-9662360", "name": "", "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": "", "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": "A0A8I6B3E0-1", "protein_name": "Protocadherin-15", "gene_name": "Pcdh15", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MSPQFALWKCMPHGILLASLLIVSWGQYDDDCKLARGGPPATIVAIDEESRNGTILVDNMLIKGTAGGPDPTIELSLKDNVDYWVLLDPVKQMLFLNSTGRVLDRDPPMNIHSIVVQVQCVNKKVGTVIYHEVRIVVRDRNDNSPTFKHESYYATVNELTPVGTTIFTGFAGDNGATDIDDGPNGQIEYVIQYNPEDPTSNDTFEIPLMLTGNVVLRKRLNYEDKTRYYVIIQANDRAQNLNERRTTTTTLTVDVLDGDDLGPMFLPCVLVPNTRDCRPLTYQAAIPELRTPEELNPILVTPPIQAIDQDRNIQPPSDRPGILYSILVGTPEDYPRFLHMHPRTAELTLLEPVNRDFHQKFDLVIKAEQDNGHPLPAFASLHIEILDENNQSPYFTMPSYQGYILESAPVGATISESLNLTTPLRIVALDKDIEDTKDPELHLFLNDYTSVFTVTPTGITRYLTLLQPVDREEQQTYTFLITAFDGVQESEPVVVNIRVMDANDNTPTFPEISYNVYVYTDMSPGDSVIQLTAVDADEGSNGEISYEILVGSKGDFVINRTTGLVSIAPGVELVVGQTYALTVQASDNAPPAERRHSICTVYIEVLPPNNQSPPRFPQLMYSLEVSEAMRIGAVLLNLQATDREGDPITYAIENGDPQRVFNLSETTGILSLGKALDRESTDRYILIVTASDGRPDGTSTATVNIVVTDVNDNAPVFDPYLPRNLSVVEEEANAFVGQVRATDPDAGINGQVHYSLGNFNNLFRITSNGSIYTAVKLNREARDHYELVVVATDGAVHPRHSTLTLYIKVLDIDDNSPVFTNSTYTVVVEENLPAGTAFLQIEAKDVDLGANVSYRIRSPEVKHLFALHPFTGELSLLRSLDYEAFPDQEASITFLVEAFDIYGTMPPGIATVTVIVKDMNDYPPVFSKRIYKGMVAPDAVKGTPITTVYAEDADPPGLPASRVRYRVDDVQFPYPASIFDVEEDSGRVITRVNLNEEPTTIFKLVVVAFDDGEPVMSSSATVRILVLHPGEIPRFTQEEYRPPPVSELAARGTVVGVISAAAINQSIVYSIVAGNEDDKFGINNVTGVIYVNSPLDYETRTSYVLRVQADSLEVVLANLRVPSKSNTAKVYIEIQDENDHPPVFQKKFYIGGVSEDARMFTSVLRVKATDRDTGNYSAMAYRLIIPPIKEGKEGFVVETYTGLIKTAMLFHNMRRSYFKFQVIATDDYGKGLSGKADVLVSVVNQLDMQVIVSNVPPTLVEKKIEDLTEILDRYVQEQIPGAKVVVESIGARRHGDAFSLEDYSKCDLTVYAIDPQTNRAIDRNELFKFLDGKLLDINKDFQPYYGEGGRILEIRTPEAVTSIKKRGESLGYTEGALLALAFIIILCCIPAILVVLVSYRQFKVRQAECTKTARIQSAMPAAKPAAPVPAAPPPPPPPPPPGAHLYEELGESAILFLLYHFEQSRGNNPVPEDRSSHRDGMAFSSSTTESHEPAHVEGPLDNQANPARTFSFLPDEDDLSTHNPLYMESIGQRSTNSDLQPGTEFGELFVPRTQVKSQSLRGPREKIQRVWNQSVRFPRRLMWKTPNRPETIDLVEWQITRQRAECEKTRCHPSQQGSSNLMVTTEDARGSEKEGGHRDTLIVQQTEQLKSLSSGSSFSSSWSHFSFSTLPTISRAVELGSEPDVVTSPADCTLELSPPRRPRVLNSLGSKRETPTCASDTETKRNSFEMVPHPPSISAPLPQLPLPQPPIAFTTFPLPLSSPNPPRPQLLTFSLPISTTPASSLPPPPPPSLPPPPRPPAPRLFPLPPSTSVPSTDSISTPAAKCTASVTHARETMSTTQPPASNPPCGAEPHRHPKGILRHVKNLAELEKSVSNMYSHIEKNCPPTELSKLHPFCPAEKTNMKITCDQSQETLVRVVEGIDVQTHSQSTSL", "length": 1933 }, "evidence": [ { "id": "HGNC:14674", "url": "https://alliancegenome.org/gene/HGNC:14674#orthology", "database": "AGR" }, { "id": "MGI:1891428", "url": "https://alliancegenome.org/gene/MGI:1891428#orthology", "database": "AGR" }, { "id": "RGD:1590969", "url": "https://alliancegenome.org/gene/RGD:1590969#orthology", "database": "AGR" }, { "id": "FB:FBgn0039709", "url": "https://alliancegenome.org/gene/FB:FBgn0039709#orthology", "database": "AGR" }, { "id": "Q96QU1", "url": "https://omabrowser.org/oma/group/Q96QU1/", "database": "OMA" } ], "glygen_name": "Rat", "common_name": "Rat" }, { "uniprot_canonical_ac": "Q99PJ1-1", "protein_name": "Protocadherin-15", "gene_name": "Pcdh15", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MFLQFAVWKCLPHGILIASLLVVSWGQYDDDWQYEDCKLARGGPPATIVAIDEESRNGTILVDNMLIKGTAGGPDPTIELSLKDNVDYWVLLDPVKQMLFLNSTGRVLDRDPPMNIHSIVVQVQCVNKKVGTVIYHEVRIVVRDRNDNSPTFKHESYYATVNELTPVGTTIFTGFSGDNGATDIDDGPNGQIEYVIQYNPEDPTSNDTFEIPLMLTGNVVLRKRLNYEDKTRYYVIIQANDRAQNLNERRTTTTTLTVDVLDGDDLGPMFLPCVLVPNTRDCRPLTYQAAIPELRTPEELNPILVTPPIQAIDQDRNIQPPSDRPGILYSILVGTPEDYPRFFHMHPRTAELTLLEPVNRDFHQKFDLVIKAEQDNGHPLPAFASLHIEILDENNQSPYFTMPSYQGYILESAPVGATISESLNLTTPLRIVALDKDIEDTKDPELHLFLNDYTSVFTVTPTGITRYLTLLQPVDREEQQTYTFLITAFDGVQESEPVVVNIRVMDANDNTPTFPEISYDVYVYTDMSPGDSVIQLTAVDADEGSNGEISYEILVGGKGDFVINKTTGLVSIAPGVELIVGQTYALTVQASDNAPPAERRHSICTVYIEVLPPNNQSPPRFPQLMYSLEVSEAMRIGAILLNLQATDREGDPITYAIENGDPQRVFNLSETTGILSLGKALDRESTDRYILIVTASDGRPDGTSTATVNIVVTDVNDNAPVFDPYLPRNLSVVEEEANAFVGQVRATDPDAGINGQVHYSLGNFNNLFRITSNGSIYTAVKLNREARDHYELVVVATDGAVHPRHSTLTLYIKVLDIDDNSPVFTNSTYTVVVEENLPAGTSFLQIEAKDVDLGANVSYRIRSPEVKHLFALHPFTGELSLLRSLDYEAFPDQEASITFLVEAFDIYGTMPPGIATVTVIVKDMNDYPPVFSKRIYKGMVAPDAVKGTPITTVYAEDADPPGMPASRVRYRVDDVQFPYPASIFDVEEDSGRVVTRVNLNEEPTTIFKLVVVAFDDGEPVMSSSATVRILVLHPGEIPRFTQEEYRPPPVSELAARGTVVGVISAAAINQSIVYSIVAGNEEDKFGINNVTGVIYVNSPLDYETRTSYVLRVQADSLEVVLANLRVPSKSNTAKVYIEIQDENDHPPVFQKKFYIGGVSEDARMFASVLRVKATDRDTGNYSAMAYRLIIPPIKEGKEGFVVETYTGLIKTAMLFHNMRRSYFKFQVIATDDYGKGLSGKADVLVSVVNQLDMQVIVSNVPPTLVEKKIEDLTEILDRYVQEQIPGAKVVVESIGARRHGDAYSLEDYSKCDLTVYAIDPQTNRAIDRNELFKFLDGKLLDINKDFQPYYGEGGRILEIRTPEAVTSIKKRGESLGYTEGALLALAFIIILCCIPAILVVLVSYRQFKVRQAECTKTARIQSAMPAAKPAAPVPAAPAPPPPPPPPPPGAHLYEELGESAMHNLFLLYHFEQSRGNNSVPEDRSSHRDGMAFSSSTTESHEPAHVEGPLKESQPNPARTFSFVPDEDNLSTHNPLYMESIGQRSTNSDLQPRTDFEELLAPRTQVKSQSLRGPREKIQRVWNQSVSFPRRLMWKAPNRPETIDLVEWQITNQRAECESARCHPSQRGSSNVLLATEDAHESEKEGGHRDTLIVQQTEQLKSLSSGSSFSSSWSHFSFSTLPTISRAVELGSEPNVVTSPADCTLELSPPLRPRILNSLSSKRETPTCASDTEPKRNSFEIAPHPPSISAPLPHPPLPRPPIAFTTFPLPLSPPNPPPPQLVTFSLPISTPPTSSLPLPPPLSLPPPPRPPAPRLFPQPPSTSIPSTDSISAPAAKCTASATHARETTSTTQPPASNPQWGAEPHRHPKGILRHVKNLAELEKSVSNMYSHIEKNCPPADPSKLHTFCPAEKTGMKITHDQSQETLVRVVEGIDVQPHSQSTSL", "length": 1943 }, "evidence": [ { "id": "HGNC:14674", "url": "https://alliancegenome.org/gene/HGNC:14674#orthology", "database": "AGR" }, { "id": "MGI:1891428", "url": "https://alliancegenome.org/gene/MGI:1891428#orthology", "database": "AGR" }, { "id": "RGD:1590969", "url": "https://alliancegenome.org/gene/RGD:1590969#orthology", "database": "AGR" }, { "id": "FB:FBgn0039709", "url": "https://alliancegenome.org/gene/FB:FBgn0039709#orthology", "database": "AGR" }, { "id": "Q96QU1", "url": "https://omabrowser.org/oma/group/Q96QU1/", "database": "OMA" } ], "glygen_name": "Mouse", "common_name": "Mouse" }, { "uniprot_canonical_ac": "Q9VAF5-1", "protein_name": "Cadherin-99C", "gene_name": "Cad99C", "tax_id": 7227, "organism": "Drosophila melanogaster", "sequence": { "sequence": "MAARNSLTPQQGLGFFGLLILLCSAVLGKSQMCEVETGQTNIILDIEESRESFIGQPTTPPELPIFGDPDTEIALNLVFPKGQPIFQLNGKKLQLLQPLDRDEENLSHIVFQVSCTTRSTGKKRTIPIIVRVSDINDNAPRFMNTPYEVTVPESTPVGTTIFRNIQALDKDAGVNGLVEYFIAEGSPNSTNVEKYSADGYGTFAISFPHQGQVTVAKTLDFEKIQTYYLTIVASDRARNTADRLSSTTTLTVNIADSNDLDPSFIYSGCVSLDGACINPEYSASVPAGSLLGVLTVLPERIQAVDLDTINSPIRYSFASGMPGNYADYFQIDESTGVLKQTKAVDTSTAKKYDIIVKAEEVSPGPQRFTTAKLEIFVKPVDANPPVISSSQAEGYVDENSPIGTRVLDAHGNPISFMTTDADLSDSDPKPDYIYELTTPSFNVTGDGILVVNEENLDRDPPAPGRFKFQVVAREPRTNAASAPLSLTVHLRDVNDNAPKLAMVAPISITAGDQSESRLVTQVTATDNDEGPNAVVTYSIYHVSNNGIQKFTINATTGEIRTQGRLLAGEQYSITVQATDIGGLSSQAIVEVSVTPGPNTKPPRFQKPIYEVQVSEGAEINSTVTVVHAEDPENDAVVYSIISGNDLRQFAVGQESGVIIVIRKLDRESLTRYQLILKAEDTGGLSSSATVNIKVTDINDKNPEFEASTLPYVFQVEEGKAQASVGVVHATDADEGINAEITYSIPTDIPFTINATSGEILTAKELDYEQLNEYKFVVTAKDGAPDARLGTASVTVMVLDLPDEVPKFSDARIDVHIPENEENFLVATVQAFDPDSMPEITYVLRKGNAELFKVSEKSGEVRTIKGLDYESQKQHQLTIGTIENDGNGPGDTILLVVDVEDRNDLPPRFITVPDPVTVNDDQGIGTIIATLPAIDGDGTSPGNVVRYEIVGRGKAPKYFQVDPDTGAVRIRDELRKEEDTEYQVDIRAYDLGEPQLSSVAPLRVDVHHLLSSGNNEIKLDNKLESGTGMSSESIGLAFSDDSYTTSVPESMEANSTLKLIQIVNSKTSGDGPPAFRCEFVSGNGGGIFNLSSADHGCNLLLIQPLDFENKSSYSLQLRLTSHRYFVNPLKDTTSVEIIVQDENDNAPEFEFNRLRGQQDTFYTVVTEEMDVDTTILQVRATDRDSGKFGTVRYTLYDDDENRVNMPTSFFMMSEDTGVLRTAKHFKNENDFPLTFLVEARDSDGQEQGSHRTRARIVVNKLADINRMALSFPNAAPSDLRNYYTELEELLDKKTGLVSGIERMSSQKYLAKNGSVIENPAATDIWFYLIDPKTEQLVSRKDSIVETTLLEPAARSELNIALPRATAENISFPLERKEHVHKVKAAVAIDNEVFPFTLIAISLVILILGTIGIIYICISWSKYKNFKQRMRQYSSTNPPRYDPVIVNQQASSASETIANMKEYETQMLAMAVPPDVDDDLQLDFSAKNHAFSLDNVSYITHKENTNGGGQSSPSHSDATTATIATLRRHKNLNNASMNNNLAINNRQNTFNRTLEMNTRNNANPLASPPNGALSGTLTLGRIKHQNSNHYQNGAYNIDPTGPNNMAHAKNNAYSTMGRRGNTFGDVGLLNGNGELMNATLGRNGQLNNRLYGGEVPITNPLFQRSNSDHNHLSSTNENVSFGKRDYGQIGFSYLNDLDRSEVETTTEL", "length": 1706 }, "evidence": [ { "id": "HGNC:14674", "url": "https://alliancegenome.org/gene/HGNC:14674#orthology", "database": "AGR" }, { "id": "MGI:1891428", "url": "https://alliancegenome.org/gene/MGI:1891428#orthology", "database": "AGR" }, { "id": "RGD:1590969", "url": "https://alliancegenome.org/gene/RGD:1590969#orthology", "database": "AGR" }, { "id": "FB:FBgn0039709", "url": "https://alliancegenome.org/gene/FB:FBgn0039709#orthology", "database": "AGR" }, { "id": "Q96QU1", "url": "https://omabrowser.org/oma/group/Q96QU1/", "database": "OMA" } ], "glygen_name": "Fruit fly", "common_name": "Fruit fly" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 6, "go_terms": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "Q96QU1", "url": "https://www.uniprot.org/uniprotkb/Q96QU1" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q96QU1", "url": "https://www.uniprot.org/uniprotkb/Q96QU1" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q96QU1", "url": "https://www.uniprot.org/uniprotkb/Q96QU1" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "Q96QU1", "url": "https://www.uniprot.org/uniprotkb/Q96QU1" } ], "pmid": "" }, { "name": "photoreceptor outer segment", "id": "GO:0001750", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001750", "evidence": [ { "database": "UniProtKB", "id": "Q96QU1", "url": "https://www.uniprot.org/uniprotkb/Q96QU1" } ], "pmid": "" }, { "name": "stereocilium", "id": "GO:0032420", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032420", "evidence": [ { "database": "UniProtKB", "id": "Q96QU1", "url": "https://www.uniprot.org/uniprotkb/Q96QU1" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 8, "go_terms": [ { "name": "cell adhesion", "id": "GO:0007155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007155", "evidence": [ { "database": "UniProtKB", "id": "Q96QU1", "url": "https://www.uniprot.org/uniprotkb/Q96QU1" } ], "pmid": "" }, { "name": "visual perception", "id": "GO:0007601", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007601", "evidence": [ { "database": "UniProtKB", "id": "Q96QU1", "url": "https://www.uniprot.org/uniprotkb/Q96QU1" } ], "pmid": "" }, { "name": "photoreceptor cell maintenance", "id": "GO:0045494", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045494", "evidence": [ { "database": "UniProtKB", "id": "Q96QU1", "url": "https://www.uniprot.org/uniprotkb/Q96QU1" } ], "pmid": "" }, { "name": "sensory perception of sound", "id": "GO:0007605", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007605", "evidence": [ { "database": "UniProtKB", "id": "Q96QU1", "url": "https://www.uniprot.org/uniprotkb/Q96QU1" } ], "pmid": "" }, { "name": "homophilic cell adhesion via plasma membrane adhesion molecules", "id": "GO:0007156", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007156", "evidence": [ { "database": "UniProtKB", "id": "Q96QU1", "url": "https://www.uniprot.org/uniprotkb/Q96QU1" } ], "pmid": "" }, { "name": "inner ear development", "id": "GO:0048839", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048839", "evidence": [ { "database": "UniProtKB", "id": "Q96QU1", "url": "https://www.uniprot.org/uniprotkb/Q96QU1" } ], "pmid": "" }, { "name": "sensory perception of light stimulus", "id": "GO:0050953", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050953", "evidence": [ { "database": "UniProtKB", "id": "Q96QU1", "url": "https://www.uniprot.org/uniprotkb/Q96QU1" } ], "pmid": "" }, { "name": "equilibrioception", "id": "GO:0050957", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050957", "evidence": [ { "database": "UniProtKB", "id": "Q96QU1", "url": "https://www.uniprot.org/uniprotkb/Q96QU1" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 2, "go_terms": [ { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "Q96QU1", "url": "https://www.uniprot.org/uniprotkb/Q96QU1" } ], "pmid": "" }, { "name": "cell adhesion molecule binding", "id": "GO:0050839", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050839", "evidence": [ { "database": "UniProtKB", "id": "Q96QU1", "url": "https://www.uniprot.org/uniprotkb/Q96QU1" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 1064, "end_pos": 1066, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1084, "end_pos": 1086, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1175, "end_pos": 1177, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1469, "end_pos": 1471, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1532, "end_pos": 1534, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1632, "end_pos": 1634, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1739, "end_pos": 1741, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1911, "end_pos": 1913, "annotation": "n_glycosylation_sequon" }, { "start_pos": 201, "end_pos": 203, "annotation": "n_glycosylation_sequon" }, { "start_pos": 390, "end_pos": 392, "annotation": "n_glycosylation_sequon" }, { "start_pos": 419, "end_pos": 421, "annotation": "n_glycosylation_sequon" }, { "start_pos": 52, "end_pos": 54, "annotation": "n_glycosylation_sequon" }, { "start_pos": 559, "end_pos": 561, "annotation": "n_glycosylation_sequon" }, { "start_pos": 610, "end_pos": 612, "annotation": "n_glycosylation_sequon" }, { "start_pos": 662, "end_pos": 664, "annotation": "n_glycosylation_sequon" }, { "start_pos": 724, "end_pos": 726, "annotation": "n_glycosylation_sequon" }, { "start_pos": 768, "end_pos": 770, "annotation": "n_glycosylation_sequon" }, { "start_pos": 821, "end_pos": 823, "annotation": "n_glycosylation_sequon" }, { "start_pos": 851, "end_pos": 853, "annotation": "n_glycosylation_sequon" }, { "start_pos": 97, "end_pos": 99, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "structures": [ { "pdb_id": "AF-Q96QU1-F1", "pdb_chain": "global", "start_pos": 1, "end_pos": 1955, "overlap": "1.0", "method": "AlphaFold", "type": "alphafold", "resolution": -1.0, "url": "https://data.glygen.org/ln2downloads/pdb/current/AF-Q96QU1-F1.pdb", "url_external": "https://alphafold.ebi.ac.uk/entry/Q96QU1" }, { "pdb_id": "6n2e", "pdb_chain": "a/b", "start_pos": 27, "end_pos": 391, "overlap": "1.0", "method": "X-Ray_Crystallography", "type": "experimental", "resolution": -1.0, "url": "https://data.glygen.org/ln2downloads/pdb/current/6n2e.pdb", "url_external": "https://www.rcsb.org/structure/6n2e" }, { "pdb_id": "5t4m", "pdb_chain": "a/b", "start_pos": 263, "end_pos": 616, "overlap": "1.0", "method": "X-Ray_Crystallography", "type": "experimental", "resolution": -1.0, "url": "https://data.glygen.org/ln2downloads/pdb/current/5t4m.pdb", "url_external": "https://www.rcsb.org/structure/5t4m" }, { "pdb_id": "4xhz", "pdb_chain": "a", "start_pos": 816, "end_pos": 1144, "overlap": "1.0", "method": "X-Ray_Crystallography", "type": "experimental", "resolution": -1.0, "url": "https://data.glygen.org/ln2downloads/pdb/current/4xhz.pdb", "url_external": "https://www.rcsb.org/structure/4xhz" } ], "lectin_list": [], "domain_list": [ { "evidence": [ { "id": "A0A087WTR6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/A0A087WTR6" }, { "id": "PS50268", "database": "PROSITE", "url": "https://prosite.expasy.org/PS50268" }, { "id": "A0A087WZN9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/A0A087WZN9" }, { "id": "A0A087X1T6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/A0A087X1T6" }, { "id": "A2A3D8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/A2A3D8" }, { "id": "A2A3E6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/A2A3E6" }, { "id": "A2A3E7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/A2A3E7" }, { "id": "A2A3E8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/A2A3E8" }, { "id": "A9Z1W1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/A9Z1W1" }, { "id": "E7EM53", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/E7EM53" }, { "id": "A0A2R8YEV2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/A0A2R8YEV2" }, { "id": "A2A3E1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/A2A3E1" }, { "id": "A2A3E4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/A2A3E4" }, { "id": "A2A3E5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/A2A3E5" }, { "id": "B7ZBT8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/B7ZBT8" }, { "id": "E7EM97", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/E7EM97" }, { "id": "E7EMG8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/E7EMG8" } ], "ann_type": "Domain_Extent_Annotation", "uniprotkb_annotation": "Cadherin", "eco_id": "ECO_0000259", "start_pos": 148, "end_pos": 265, "start_aa": "Lys", "end_aa": "Phe", "glycosite_overlap": "Asn201" }, { "evidence": [ { "id": "Q96QU1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q96QU1" }, { "id": "PRU00043", "database": "PROSITE", "url": "https://prosite.expasy.org/PRU00043" } ], "ann_type": "Domain_Extent_Annotation", "uniprotkb_annotation": "Cadherin 1", "eco_id": "ECO_0000255", "start_pos": 40, "end_pos": 147, "start_aa": "Pro", "end_aa": "Phe", "glycosite_overlap": "Asn97,Asn52" }, { "evidence": [ { "id": "Q96QU1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q96QU1" }, { "id": "PRU00043", "database": "PROSITE", "url": "https://prosite.expasy.org/PRU00043" } ], "ann_type": "Domain_Extent_Annotation", "uniprotkb_annotation": "Cadherin 10", "eco_id": "ECO_0000255", "start_pos": 1037, "end_pos": 1144, "start_aa": "Gln", "end_aa": "Phe", "glycosite_overlap": "Asn1084,Asn1064" }, { "evidence": [ { "id": "Q96QU1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q96QU1" }, { "id": "PRU00043", "database": "PROSITE", "url": "https://prosite.expasy.org/PRU00043" } ], "ann_type": "Domain_Extent_Annotation", "uniprotkb_annotation": "Cadherin 11", "eco_id": "ECO_0000255", "start_pos": 1145, "end_pos": 1259, "start_aa": "Gln", "end_aa": "Leu", "glycosite_overlap": "Asn1175" }, { "evidence": [ { "id": "Q96QU1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q96QU1" }, { "id": "PRU00043", "database": "PROSITE", "url": "https://prosite.expasy.org/PRU00043" } ], "ann_type": "Domain_Extent_Annotation", "uniprotkb_annotation": "Cadherin 2", "eco_id": "ECO_0000255", "start_pos": 148, "end_pos": 265, "start_aa": "Lys", "end_aa": "Phe", "glycosite_overlap": "Asn201" }, { "evidence": [ { "id": "Q96QU1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q96QU1" }, { "id": "PRU00043", "database": "PROSITE", "url": "https://prosite.expasy.org/PRU00043" } ], "ann_type": "Domain_Extent_Annotation", "uniprotkb_annotation": "Cadherin 3", "eco_id": "ECO_0000255", "start_pos": 278, "end_pos": 395, "start_aa": "Arg", "end_aa": "Phe", "glycosite_overlap": "" }, { "evidence": [ { "id": "Q96QU1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q96QU1" }, { "id": "PRU00043", "database": "PROSITE", "url": "https://prosite.expasy.org/PRU00043" } ], "ann_type": "Domain_Extent_Annotation", "uniprotkb_annotation": "Cadherin 4", "eco_id": "ECO_0000255", "start_pos": 396, "end_pos": 509, "start_aa": "Thr", "end_aa": "Phe", "glycosite_overlap": "Asn419" }, { "evidence": [ { "id": "Q96QU1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q96QU1" }, { "id": "PRU00043", "database": "PROSITE", "url": "https://prosite.expasy.org/PRU00043" } ], "ann_type": "Domain_Extent_Annotation", "uniprotkb_annotation": "Cadherin 5", "eco_id": "ECO_0000255", "start_pos": 510, "end_pos": 616, "start_aa": "Pro", "end_aa": "Phe", "glycosite_overlap": "Asn559" }, { "evidence": [ { "id": "Q96QU1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q96QU1" }, { "id": "PRU00043", "database": "PROSITE", "url": "https://prosite.expasy.org/PRU00043" } ], "ann_type": "Domain_Extent_Annotation", "uniprotkb_annotation": "Cadherin 6", "eco_id": "ECO_0000255", "start_pos": 617, "end_pos": 717, "start_aa": "Pro", "end_aa": "Phe", "glycosite_overlap": "Asn662" }, { "evidence": [ { "id": "Q96QU1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q96QU1" }, { "id": "PRU00043", "database": "PROSITE", "url": "https://prosite.expasy.org/PRU00043" } ], "ann_type": "Domain_Extent_Annotation", "uniprotkb_annotation": "Cadherin 7", "eco_id": "ECO_0000255", "start_pos": 719, "end_pos": 819, "start_aa": "Pro", "end_aa": "Phe", "glycosite_overlap": "Asn724,Asn768" }, { "evidence": [ { "id": "Q96QU1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q96QU1" }, { "id": "PRU00043", "database": "PROSITE", "url": "https://prosite.expasy.org/PRU00043" } ], "ann_type": "Domain_Extent_Annotation", "uniprotkb_annotation": "Cadherin 8", "eco_id": "ECO_0000255", "start_pos": 820, "end_pos": 926, "start_aa": "Thr", "end_aa": "Phe", "glycosite_overlap": "Asn821,Asn851" }, { "evidence": [ { "id": "Q96QU1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q96QU1" }, { "id": "PRU00043", "database": "PROSITE", "url": "https://prosite.expasy.org/PRU00043" } ], "ann_type": "Domain_Extent_Annotation", "uniprotkb_annotation": "Cadherin 9", "eco_id": "ECO_0000255", "start_pos": 927, "end_pos": 1035, "start_aa": "Ser", "end_aa": "Phe", "glycosite_overlap": "" }, { "evidence": [ { "id": "A0A087WXQ6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/A0A087WXQ6" }, { "id": "PF18432", "database": "Pfam", "url": "https://www.ebi.ac.uk/interpro/entry/pfam/PF18432" }, { "id": "A2A3D9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/A2A3D9" } ], "ann_type": "Domain_Extent_Annotation", "uniprotkb_annotation": "Extracellular cadherin", "eco_id": "ECO_0000259", "start_pos": 28, "end_pos": 72, "start_aa": "Tyr", "end_aa": "Thr", "glycosite_overlap": "Asn52" }, { "evidence": [ { "id": "A0A087WX70", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/A0A087WX70" }, { "id": "PF23206", "database": "Pfam", "url": "https://www.ebi.ac.uk/interpro/entry/pfam/PF23206" }, { "id": "A0A087WZN4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/A0A087WZN4" } ], "ann_type": "Domain_Extent_Annotation", "uniprotkb_annotation": "Protocadherin-15", "eco_id": "ECO_0000259", "start_pos": 1, "end_pos": 112, "start_aa": "Met", "end_aa": "His", "glycosite_overlap": "Asn97,Asn52" } ], "binding_sites": [], "synthesized_glycans": [], "enzyme_annotation": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.agr", "label": "AGR Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "sequence_features": { "n_linked_sites": [ 52, 97, 201, 419, 559, 662, 724, 768, 821, 851, 1064, 1084, 1175 ], "o_linked_sites": [ 1807, 1816 ], "snv_sites": [ 3, 4, 7, 8, 9, 10, 13, 14, 19, 20, 22, 25, 26, 27, 28, 29, 30, 31, 33, 38, 40, 43, 44, 47, 51, 52, 53, 54, 55, 58, 59, 61, 64, 65, 66, 67, 68, 70, 71, 72, 74, 75, 76, 78, 79, 80, 81, 82, 83, 84, 88, 89, 91, 92, 93, 94, 97, 98, 99, 100, 101, 103, 104, 105, 106, 107, 108, 110, 112, 117, 118, 119, 123, 124, 126, 130, 132, 134, 136, 140, 143, 145, 146, 149, 152, 155, 156, 161, 162, 163, 165, 169, 170, 176, 177, 178, 180, 181, 182, 183, 184, 185, 188, 190, 193, 195, 196, 197, 198, 200, 201, 203, 207, 209, 210, 211, 214, 215, 217, 218, 220, 221, 223, 224, 227, 229, 232, 234, 236, 237, 238, 241, 242, 243, 245, 246, 249, 250, 251, 253, 254, 257, 258, 259, 260, 261, 262, 263, 264, 267, 270, 271, 272, 274, 275, 276, 277, 278, 280, 283, 284, 285, 286, 287, 288, 289, 290, 292, 293, 294, 296, 297, 299, 301, 304, 305, 306, 309, 310, 311, 314, 315, 316, 320, 321, 323, 325, 326, 327, 328, 329, 332, 333, 335, 336, 338, 339, 342, 343, 345, 346, 347, 348, 349, 353, 356, 358, 359, 360, 361, 362, 365, 369, 370, 372, 374, 376, 377, 379, 380, 382, 384, 387, 388, 389, 390, 391, 392, 393, 394, 395, 398, 400, 401, 404, 405, 406, 408, 409, 410, 411, 412, 413, 414, 415, 416, 419, 421, 423, 425, 426, 427, 428, 431, 433, 434, 435, 436, 438, 439, 440, 442, 443, 444, 446, 447, 448, 451, 454, 455, 456, 458, 460, 461, 463, 464, 465, 466, 467, 469, 470, 472, 474, 475, 478, 480, 483, 484, 486, 489, 491, 492, 493, 495, 496, 498, 499, 500, 501, 504, 506, 507, 508, 509, 513, 514, 517, 522, 523, 524, 525, 526, 528, 529, 534, 535, 536, 538, 540, 541, 542, 543, 544, 547, 549, 550, 551, 552, 554, 556, 559, 563, 564, 566, 567, 568, 569, 570, 572, 573, 577, 578, 579, 580, 581, 582, 583, 587, 589, 591, 592, 593, 594, 596, 597, 598, 600, 602, 604, 605, 606, 607, 609, 610, 612, 615, 617, 622, 624, 625, 627, 628, 629, 630, 631, 632, 633, 634, 635, 639, 640, 641, 642, 643, 644, 645, 649, 650, 651, 653, 655, 658, 659, 660, 661, 662, 663, 664, 665, 666, 667, 668, 672, 675, 676, 677, 678, 680, 681, 683, 684, 686, 687, 689, 690, 691, 692, 694, 696, 697, 699, 700, 701, 704, 706, 708, 709, 711, 713, 714, 715, 719, 720, 721, 723, 724, 725, 726, 729, 730, 732, 734, 737, 740, 741, 743, 744, 745, 746, 747, 750, 751, 753, 754, 756, 758, 761, 762, 763, 764, 766, 768, 770, 771, 772, 774, 775, 776, 777, 782, 784, 788, 789, 790, 791, 793, 794, 795, 796, 798, 800, 803, 804, 808, 811, 813, 814, 815, 816, 817, 818, 820, 821, 822, 823, 825, 826, 827, 828, 829, 830, 831, 833, 835, 836, 837, 839, 842, 843, 845, 847, 848, 849, 850, 851, 853, 855, 857, 859, 860, 862, 871, 873, 875, 876, 878, 879, 882, 883, 884, 886, 887, 888, 891, 897, 898, 900, 901, 902, 903, 904, 905, 906, 907, 916, 919, 920, 921, 923, 924, 926, 927, 929, 931, 932, 933, 936, 937, 939, 941, 943, 947, 950, 954, 955, 956, 957, 958, 959, 962, 963, 965, 966, 969, 970, 973, 974, 975, 978, 979, 982, 983, 985, 986, 987, 991, 993, 995, 996, 997, 998, 999, 1002, 1010, 1011, 1012, 1015, 1017, 1020, 1025, 1029, 1030, 1031, 1032, 1033, 1034, 1037, 1038, 1039, 1042, 1044, 1046, 1048, 1050, 1052, 1053, 1054, 1055, 1056, 1058, 1059, 1061, 1062, 1063, 1064, 1065, 1066, 1070, 1071, 1077, 1078, 1081, 1082, 1083, 1084, 1086, 1087, 1089, 1092, 1094, 1097, 1098, 1100, 1102, 1105, 1106, 1107, 1108, 1111, 1112, 1113, 1115, 1116, 1119, 1120, 1122, 1123, 1125, 1126, 1127, 1128, 1131, 1132, 1133, 1135, 1136, 1137, 1140, 1141, 1142, 1144, 1145, 1147, 1148, 1151, 1152, 1155, 1156, 1157, 1159, 1160, 1162, 1165, 1168, 1169, 1171, 1172, 1173, 1174, 1175, 1177, 1184, 1185, 1187, 1191, 1192, 1193, 1194, 1196, 1198, 1200, 1207, 1211, 1215, 1216, 1217, 1219, 1221, 1224, 1225, 1226, 1227, 1228, 1229, 1231, 1232, 1233, 1234, 1235, 1237, 1242, 1244, 1247, 1253, 1256, 1257, 1258, 1260, 1261, 1263, 1264, 1265, 1266, 1267, 1268, 1269, 1270, 1272, 1273, 1275, 1277, 1278, 1280, 1283, 1284, 1285, 1287, 1288, 1289, 1292, 1293, 1295, 1298, 1299, 1300, 1301, 1302, 1303, 1304, 1307, 1309, 1312, 1313, 1317, 1318, 1319, 1320, 1321, 1322, 1323, 1324, 1325, 1326, 1327, 1330, 1332, 1336, 1343, 1344, 1346, 1348, 1350, 1353, 1354, 1355, 1358, 1359, 1361, 1362, 1365, 1366, 1367, 1368, 1369, 1370, 1371, 1374, 1375, 1376, 1377, 1378, 1379, 1386, 1390, 1391, 1392, 1393, 1394, 1397, 1400, 1402, 1405, 1411, 1412, 1413, 1414, 1417, 1418, 1420, 1421, 1422, 1423, 1424, 1425, 1427, 1428, 1430, 1431, 1432, 1434, 1436, 1437, 1438, 1439, 1443, 1445, 1447, 1449, 1450, 1452, 1454, 1457, 1459, 1461, 1463, 1466, 1467, 1468, 1470, 1473, 1475, 1476, 1477, 1480, 1482, 1483, 1485, 1487, 1490, 1491, 1496, 1502, 1506, 1508, 1509, 1510, 1512, 1513, 1515, 1520, 1521, 1524, 1526, 1527, 1530, 1531, 1534, 1536, 1537, 1539, 1540, 1542, 1543, 1545, 1547, 1548, 1549, 1550, 1554, 1556, 1560, 1561, 1562, 1563, 1564, 1566, 1567, 1568, 1569, 1570, 1573, 1574, 1575, 1577, 1583, 1586, 1588, 1589, 1592, 1593, 1595, 1596, 1598, 1599, 1601, 1602, 1606, 1608, 1609, 1610, 1611, 1612, 1613, 1615, 1617, 1619, 1620, 1624, 1627, 1629, 1630, 1631, 1635, 1637, 1638, 1639, 1640, 1641, 1643, 1645, 1646, 1647, 1648, 1649, 1651, 1652, 1654, 1655, 1657, 1660, 1661, 1663, 1664, 1665, 1667, 1669, 1670, 1671, 1672, 1675, 1676, 1679, 1682, 1684, 1687, 1689, 1691, 1692, 1694, 1695, 1696, 1697, 1699, 1700, 1701, 1703, 1704, 1705, 1709, 1710, 1711, 1713, 1715, 1716, 1717, 1718, 1723, 1725, 1727, 1728, 1729, 1731, 1733, 1734, 1735, 1736, 1740, 1742, 1746, 1748, 1749, 1750, 1751, 1753, 1754, 1755, 1756, 1758, 1759, 1761, 1763, 1764, 1767, 1769, 1770, 1772, 1773, 1774, 1775, 1781, 1782, 1783, 1784, 1791, 1793, 1797, 1800, 1802, 1804, 1805, 1807, 1808, 1809, 1810, 1811, 1812, 1813, 1815, 1816, 1817, 1818, 1819, 1821, 1822, 1823, 1824, 1826, 1828, 1830, 1831, 1832, 1834, 1838, 1839, 1840, 1841, 1842, 1845, 1850, 1851, 1853, 1854, 1856, 1859, 1861, 1862, 1864, 1868, 1870, 1871, 1872, 1873, 1875, 1876, 1878, 1881, 1885, 1886, 1889, 1891, 1893, 1895, 1896, 1897, 1900, 1901, 1902, 1904, 1908, 1909, 1910, 1913, 1915, 1916, 1919, 1927, 1930, 1931, 1932, 1935, 1938, 1942, 1943, 1945, 1950, 1951, 1952, 1953, 1954, 1955 ], "sites_with_glycoeffect": [ 740, 941, 1017, 1017, 1046, 1050, 1053, 1059, 1059, 1059, 1064, 1064, 1064, 1065, 1066, 1066, 1084, 1084, 1086, 1086, 1086, 1094, 1097, 1097, 1102, 1102, 1111, 1111, 1123, 1125, 1125, 1125, 1127, 1128, 1131, 1141, 1162, 1169, 1173, 1175, 1177, 1177, 1200, 1216, 1217, 1225, 1233, 1253, 1256, 1258, 1258, 1268, 1288, 1299, 1302, 1303, 1303, 1303, 1304, 1307, 1309, 1309, 130, 1317, 1320, 1344, 1361, 1362, 1362, 1362, 1369, 13, 1412, 143, 1454, 145, 1461, 1466, 1473, 1487, 1490, 149, 1509, 1512, 1521, 152, 152, 1534, 1534, 1537, 1540, 1543, 155, 1560, 1562, 1575, 1577, 1592, 1612, 1619, 1619, 1627, 1627, 1655, 1655, 1657, 1657, 1657, 165, 1660, 1661, 1672, 1676, 1691, 1697, 1701, 1703, 1703, 1709, 1710, 1711, 1713, 1717, 1731, 1731, 1754, 176, 1770, 1772, 1775, 177, 1782, 1802, 1807, 1807, 1807, 1816, 1816, 1816, 1816, 1824, 1832, 1834, 1834, 1838, 1850, 1853, 1859, 1861, 1868, 1873, 1895, 1900, 1901, 1910, 1913, 1930, 1930, 193, 1950, 1952, 1953, 1954, 19, 200, 201, 201, 203, 203, 203, 211, 211, 224, 237, 237, 242, 246, 249, 250, 250, 250, 274, 275, 275, 28, 301, 325, 348, 390, 390, 392, 392, 394, 400, 413, 415, 419, 419, 436, 447, 448, 448, 455, 460, 464, 464, 464, 478, 480, 504, 506, 506, 507, 508, 508, 513, 514, 517, 52, 540, 54, 559, 559, 566, 578, 579, 582, 582, 597, 598, 600, 602, 602, 610, 612, 622, 641, 649, 650, 65, 662, 662, 662, 662, 662, 663, 664, 666, 667, 680, 680, 681, 684, 689, 691, 696, 699, 699, 699, 700, 708, 713, 715, 720, 724, 726, 726, 72, 72, 754, 763, 763, 766, 768, 768, 76, 76, 770, 770, 770, 772, 784, 804, 814, 816, 817, 820, 821, 822, 823, 823, 823, 825, 833, 836, 837, 83, 851, 853, 853, 853, 871, 875, 879, 882, 891, 902, 904, 927, 927, 931, 943, 947, 947, 965, 965, 97, 97, 985, 98, 995, 99, 9 ], "glycation_sites": [], "phosphorylation_sites": [ 879 ], "sequon_annotation_sites": [ { "start_pos": 1064, "end_pos": 1066 }, { "start_pos": 1084, "end_pos": 1086 }, { "start_pos": 1175, "end_pos": 1177 }, { "start_pos": 1469, "end_pos": 1471 }, { "start_pos": 1532, "end_pos": 1534 }, { "start_pos": 1632, "end_pos": 1634 }, { "start_pos": 1739, "end_pos": 1741 }, { "start_pos": 1911, "end_pos": 1913 }, { "start_pos": 201, "end_pos": 203 }, { "start_pos": 390, "end_pos": 392 }, { "start_pos": 419, "end_pos": 421 }, { "start_pos": 52, "end_pos": 54 }, { "start_pos": 559, "end_pos": 561 }, { "start_pos": 610, "end_pos": 612 }, { "start_pos": 662, "end_pos": 664 }, { "start_pos": 724, "end_pos": 726 }, { "start_pos": 768, "end_pos": 770 }, { "start_pos": 821, "end_pos": 823 }, { "start_pos": 851, "end_pos": 853 }, { "start_pos": 97, "end_pos": 99 } ] }, "class_list": [], "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 15 }, { "field": "total_sites", "count": 15 }, { "field": "n_linked_sites", "count": 13 }, { "field": "o_linked_sites", "count": 2 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 15 }, { "field": "exact_n_linked_sites", "count": 13 }, { "field": "exact_o_linked_sites", "count": 2 }, { "field": "fuzzy_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 15 }, { "field": "total_sites", "count": 15 }, { "field": "n_linked_sites", "count": 13 }, { "field": "o_linked_sites", "count": 2 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 15 }, { "field": "exact_n_linked_sites", "count": 13 }, { "field": "exact_o_linked_sites", "count": 2 }, { "field": "fuzzy_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1583 }, { "field": "total_sites", "count": 1110 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1516 }, { "field": "total_sites", "count": 1080 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 67 }, { "field": "total_sites", "count": 51 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 38 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ], "tool_support": { "graph_view": "yes" } } ]