{ "uniprot_canonical_ac": "Q96QU1-1", "uniprot_ac": "Q96QU1", "uniprot_id": "PCD15_HUMAN", "mass": { "chemical_mass": 216069.0, "monoisotopic_mass": 216069.0 }, "refseq": { "ac": "NP_001136244", "name": "protocadherin-15 isoform CD3-2 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_001136244" }, "gene_names": [ { "name": "PCDH15", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/Q96QU1", "id": "Q96QU1" }, { "name": "CDHR15; DFNB23; USH1F", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136242", "id": "NP_001136242" }, { "name": "PCDH15", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136242", "id": "NP_001136242" }, { "name": "USH1F", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q96QU1", "id": "Q96QU1" } ], "protein_names": [ { "name": "Protocadherin-15", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "Q96QU1" }, { "name": "cadherin-related family member 15", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136243", "id": "NP_001136243" }, { "name": "protocadherin-15 isoform CD1-1 precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136235", "id": "NP_001136235" }, { "name": "protocadherin-15 isoform CD1-10 precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136245", "id": "NP_001136245" }, { "name": "protocadherin-15 isoform CD1-2 precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136236", "id": "NP_001136236" }, { "name": "protocadherin-15 isoform CD1-4 precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_149045", "id": "NP_149045" }, { "name": "protocadherin-15 isoform CD1-6 precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136237", "id": "NP_001136237" }, { "name": "protocadherin-15 isoform CD1-7 precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136238", "id": "NP_001136238" }, { "name": "protocadherin-15 isoform CD2-1 precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136241", "id": "NP_001136241" }, { "name": "protocadherin-15 isoform CD2-2 precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136242", "id": "NP_001136242" }, { "name": "protocadherin-15 isoform CD3-1 precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136243", "id": "NP_001136243" }, { "name": "protocadherin-15 isoform CD3-2 precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136244", "id": "NP_001136244" } ], "function": [ { "annotation": "Both mouse and human protocadherin 15 genes have complex genomic structures and transcription control mechanisms.", "evidence": [ { "database": "RefSeq", "id": "NP_001136238", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136238" }, { "database": "PubMed", "id": "17706913", "url": "https://glygen.org/publication/PubMed/17706913" }, { "database": "RefSeq", "id": "NP_001136237", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136237" }, { "database": "RefSeq", "id": "NP_001136236", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136236" }, { "database": "RefSeq", "id": "NP_001136235", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136235" }, { "database": "RefSeq", "id": "NP_149045", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_149045" }, { "database": "RefSeq", "id": "NP_001136241", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136241" }, { "database": "RefSeq", "id": "NP_001136244", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136244" }, { "database": "RefSeq", "id": "NP_001136245", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136245" }, { "database": "RefSeq", "id": "NP_001136242", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136242" }, { "database": "RefSeq", "id": "NP_001136243", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136243" } ] }, { "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/uniprot/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_001136238", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136238" }, { "database": "PubMed", "id": "11487575", "url": "https://glygen.org/publication/PubMed/11487575" }, { "database": "RefSeq", "id": "NP_001136237", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136237" }, { "database": "RefSeq", "id": "NP_001136236", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136236" }, { "database": "RefSeq", "id": "NP_001136235", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136235" }, { "database": "RefSeq", "id": "NP_149045", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_149045" }, { "database": "RefSeq", "id": "NP_001136241", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136241" }, { "database": "RefSeq", "id": "NP_001136244", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136244" }, { "database": "RefSeq", "id": "NP_001136245", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136245" }, { "database": "RefSeq", "id": "NP_001136242", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136242" }, { "database": "RefSeq", "id": "NP_001136243", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136243" } ] }, { "annotation": "Protocadherin 15 suppresses oligodendrocyte progenitor cell proliferation and promotes motility through distinct signalling pathways. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001136238", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136238" }, { "database": "PubMed", "id": "35637313", "url": "https://glygen.org/publication/PubMed/35637313" }, { "database": "RefSeq", "id": "NP_001136237", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136237" }, { "database": "RefSeq", "id": "NP_001136236", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136236" }, { "database": "RefSeq", "id": "NP_001136235", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136235" }, { "database": "RefSeq", "id": "NP_149045", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_149045" }, { "database": "RefSeq", "id": "NP_001136241", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136241" }, { "database": "RefSeq", "id": "NP_001136244", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136244" }, { "database": "RefSeq", "id": "NP_001136245", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136245" }, { "database": "RefSeq", "id": "NP_001136242", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136242" }, { "database": "RefSeq", "id": "NP_001136243", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136243" } ] }, { "annotation": "Study of PCDH15 mutations in nonsyndromic deafness DFNB23 and type 1 Usher syndrome", "evidence": [ { "database": "RefSeq", "id": "NP_001136238", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136238" }, { "database": "PubMed", "id": "18719945", "url": "https://glygen.org/publication/PubMed/18719945" }, { "database": "RefSeq", "id": "NP_001136237", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136237" }, { "database": "RefSeq", "id": "NP_001136236", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136236" }, { "database": "RefSeq", "id": "NP_001136235", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136235" }, { "database": "RefSeq", "id": "NP_149045", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_149045" }, { "database": "RefSeq", "id": "NP_001136241", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136241" }, { "database": "RefSeq", "id": "NP_001136244", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136244" }, { "database": "RefSeq", "id": "NP_001136245", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136245" }, { "database": "RefSeq", "id": "NP_001136242", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136242" }, { "database": "RefSeq", "id": "NP_001136243", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136243" } ] }, { "annotation": "The association of genetic polymorphisms in protocadherin 15 with sudden sensorineural hearing loss in a Chinese population.", "evidence": [ { "database": "RefSeq", "id": "NP_001136238", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136238" }, { "database": "PubMed", "id": "37198144", "url": "https://glygen.org/publication/PubMed/37198144" }, { "database": "RefSeq", "id": "NP_001136237", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136237" }, { "database": "RefSeq", "id": "NP_001136236", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136236" }, { "database": "RefSeq", "id": "NP_001136235", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136235" }, { "database": "RefSeq", "id": "NP_149045", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_149045" }, { "database": "RefSeq", "id": "NP_001136241", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136241" }, { "database": "RefSeq", "id": "NP_001136244", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136244" }, { "database": "RefSeq", "id": "NP_001136245", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136245" }, { "database": "RefSeq", "id": "NP_001136242", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136242" }, { "database": "RefSeq", "id": "NP_001136243", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136243" } ] }, { "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_001136238", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136238" }, { "database": "RefSeq", "id": "NP_001136237", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136237" }, { "database": "RefSeq", "id": "NP_001136236", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136236" }, { "database": "RefSeq", "id": "NP_001136235", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136235" }, { "database": "RefSeq", "id": "NP_149045", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_149045" }, { "database": "RefSeq", "id": "NP_001136241", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136241" }, { "database": "RefSeq", "id": "NP_001136244", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136244" }, { "database": "RefSeq", "id": "NP_001136245", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136245" }, { "database": "RefSeq", "id": "NP_001136242", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136242" }, { "database": "RefSeq", "id": "NP_001136243", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136243" } ] } ], "disease": [ { "disease_id": "DOID:0050439", "recommended_name": { "id": "DOID:0050439", "resource": "Disease Ontology", "url": "http://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" } ], "evidence": [ { "id": "276900", "database": "MIM", "url": "https://www.omim.org/entry/276900" } ] }, { "disease_id": "DOID:0110481", "recommended_name": { "id": "DOID:0110481", "resource": "Disease Ontology", "url": "http://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": "http://disease-ontology.org/term/DOID:0110481", "name": "DFNB23", "description": "" }, { "id": "DOID:0110481", "resource": "Disease Ontology", "url": "http://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" } ], "evidence": [ { "id": "609533", "database": "MIM", "url": "https://www.omim.org/entry/609533" } ] }, { "disease_id": "DOID:0110826", "recommended_name": { "id": "DOID:0110826", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110826", "name": "Usher syndrome type 1", "description": "An Usher syndrome characterized by profound congenital deafness, vestibular dysfunction and early development of retinitis pigmentosa." }, "synonyms": [ { "id": "DOID:0110826", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110826", "name": "US1", "description": "" }, { "id": "DOID:0110826", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110826", "name": "USH1", "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" } ], "evidence": [ { "id": "276900", "database": "MIM", "url": "https://www.omim.org/entry/276900" } ] }, { "disease_id": "DOID:0110831", "recommended_name": { "id": "DOID:0110831", "resource": "Disease Ontology", "url": "http://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": "http://disease-ontology.org/term/DOID:0110831", "name": "USH1D", "description": "" }, { "id": "DOID:0110831", "resource": "Disease Ontology", "url": "http://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", "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/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": "Ush1D/F, Cdh23/Pcdh15, digenic", "description": "" }, { "id": "MONDO:0010984", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010984", "name": "Usher syndrome, type 1D", "description": "" }, { "id": "MONDO:0010984", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010984", "name": "Usher syndrome, type Id/F, Cdh23/Pcdh15, digenic", "description": "" }, { "id": "MIM:601067", "resource": "MIM", "url": "https://www.omim.org/entry/601067", "name": "Usher syndrome 1D", "description": "Usher syndrome 1D" } ], "evidence": [ { "id": "601067", "database": "MIM", "url": "https://www.omim.org/entry/601067" } ] }, { "disease_id": "DOID:0110832", "recommended_name": { "id": "DOID:0110832", "resource": "Disease Ontology", "url": "http://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": "http://disease-ontology.org/term/DOID:0110832", "name": "USH1F", "description": "" }, { "id": "DOID:0110832", "resource": "Disease Ontology", "url": "http://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. 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"https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, 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"MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] }, { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": 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"https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": 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"http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease 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"rs143827620", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs143827620" }, { "id": "rs143827620", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs143827620" }, { "id": "rs143827620", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs143827620#frequency_tab" }, { "id": "rs143827620", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs143827620" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 419, "end_pos": 419, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NLT->SLT).", "chr_id": "10", "chr_pos": "54195732", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "0.000599", "site_lbl": "N419", "disease": [ { "disease_id": "DOID:0110826", "recommended_name": { "id": "DOID:0110826", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110826", 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"Usher syndrome 1B", "description": "Usher syndrome 1B" } ] }, { "disease_id": "DOID:0050439", "recommended_name": { "id": "DOID:0050439", "resource": "Disease Ontology", "url": "http://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" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs150509146", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs150509146" }, { "id": "rs150509146", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs150509146" }, { "id": "rs150509146", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs150509146#frequency_tab" }, { "id": "rs150509146", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs150509146" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 447, "end_pos": 447, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DYT->NYT).", "chr_id": "10", "chr_pos": "54185235", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D447", "disease": [ { "disease_id": "DOID:0110481", "recommended_name": { "id": "DOID:0110481", "resource": "Disease Ontology", "url": "http://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": "http://disease-ontology.org/term/DOID:0110481", "name": "DFNB23", "description": "" }, { "id": "DOID:0110481", "resource": "Disease Ontology", "url": "http://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": 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}, { "id": "Q96QU1-4", "url": "https://www.uniprot.org/uniprot/Q96QU1-4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q96QU1-6", "url": "https://www.uniprot.org/uniprot/Q96QU1-6", "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": "", "sequence": { "sequence": "MFRQFYLWTCLASGIILGSLFEICLGQYDDDCKLARGGPPATIVAIDEESRNGTILVDNMLIKGTAGGPDPTIELSLKDNVDYWVLMDPVKQMLFLNSTGRVLDRDPPMNIHSIVVQVQCINKKVGTIIYHEVRIVVRDRNDNSPTFKHESYYATVNELTPVGTTIFTGFSGDNGATDIDDGPNGQIEYVIQYNPDDPTSNDTFEIPLMLTGNIVLRKRLNYEDKTRYFVIIQANDRAQNLNERRTTTTTLTVDVLDGDDLGPMFLPCVLVPNTRDCRPLTYQAAIPELRTPEELNPIIVTPPIQAIDQDRNIQPPSDRPGILYSILVGTPEDYPRFFHMHPRTAELSLLEPVNRDFHQKFDLVIKAEQDNGHPLPAFAGLHIEILDENNQSPYFTMPSYQGYILESAPVGATISDSLNLTSPLRIVALDKDIEDTKDPELHLFLNDYTSVFTVTQTGITRYLTLLQPVDREEQQTYTFSITAFDGVQESEPVIVNIQVMDANDNTPTFPEISYDVYVYTDMRPGDSVIQLTAVDADEGSNGEITYEILVGAQGDFIINKTTGLITIAPGVEMIVGRTYALTVQAADNAPPAERRNSICTVYIEVLPPNNQSPPRFPQLMYSLEISEAMRVGAVLLNLQATDREGDSITYAIENGDPQRVFNLSETTGILTLGKALDRESTDRYILIITASDGRPDGTSTATVNIVVTDVNDNAPVFDPYLPRNLSVVEEEANAFVGQVKATDPDAGINGQVHYSLGNFNNLFRITSNGSIYTAVKLNREVRDYYELVVVATDGAVHPRHSTLTLAIKVLDIDDNSPVFTNSTYTVLVEENLPAGTTILQIEAKDVDLGANVSYRIRSPEVKHFFALHPFTGELSLLRSLDYEAFPDQEASITFLVEAFDIYGTMPPGIATVTVIVKDMNDYPPVFSKRIYKGMVAPDAVKGTPITTVYAEDADPPGLPASRVRYRVDDVQFPYPASIFEVEEDSGRVITRVNLNEEPTTIFKLVVVAFDDGEPVMSSSATVKILVLHPGEIPRFTQEEYRPPPVSELATKGTMVGVISAAAINQSIVYSIVSGNEEDTFGINNITGVIYVNGPLDYETRTSYVLRVQADSLEVVLANLRVPSKSNTAKVYIEIQDENNHPPVFQKKFYIGGVSEDARMFTSVLRVKATDKDTGNYSVMAYRLIIPPIKEGKEGFVVETYTGLIKTAMLFHNMRRSYFKFQVIATDDYGKGLSGKADVLVSVVNQLDMQVIVSNVPPTLVEKKIEDLTEILDRYVQEQIPGAKVVVESIGARRHGDAFSLEDYTKCDLTVYAIDPQTNRAIDRNELFKFLDGKLLDINKDFQPYYGEGGRILEIRTPEAVTSIKKRGESLGYTEGALLALAFIIILCCIPAILVVLVSYRQFKVRQAECTKTARIQAALPAAKPAVPAPAPVAAPPPPPPPPPGAHLYEELGDSSMHKNYPWSLELILARNMDKIITVMSMGMKCLNMGVAVDCYHQLDRRNMVRWLVKLRKNMRRKRKSQRKLKNQRLKLESLVRRKK", "length": 1539, "header": "tr|A0A087WTR6-1|A0A087WTR6_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": 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": "", "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": "", "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": "", "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=4 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": "", "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": "", "sequence": { "sequence": "MFRQFYLWTCLASGIILGSLFEICLGQYDDDWQYEDCKLARGGPPATIVAIDEESRNGTILVDNMLIKGTAGGPDPTIELSLKDNVDYWVLMDPVKQMLFLNSTGRVLDRDPPMNIHSIVVQVQCINKKVGTIIYHEVRIVVRDRNDNSPTFKHESYYATVNELTPVGTTIFTGFSGDNGATDIDDGPNGQIEYVIQYNPDDPTSNDTFEIPLMLTGNIVLRKRLNYEDKTRYFVIIQANDRAQNLNERRTTTTTLTVDVLDGDDLGPMFLPCVLVPNTRDCRPLTYQAAIPELRTPEELNPIIVTPPIQAIDQDRNIQPPSDRPGILYSILVGTPEDYPRFFHMHPRTAELSLLEPVNRDFHQKFDLVIKAEQDNGHPLPAFAGLHIEILDENNQSPYFTMPSYQGYILESAPVGATISDSLNLTSPLRIVALDKDIEDVPPSGVPTKDPELHLFLNDYTSVFTVTQTGITRYLTLLQPVDREEQQTYTFSITAFDGVQESEPVIVNIQVMDANDNTPTFPEISYDVYVYTDMRPGDSVIQLTAVDADEGSNGEITYEILVGAQGDFIINKTTGLITIAPGVEMIVGRTYALTVQAADNAPPAERRNSICTVYIEVLPPNNQSPPRFPQLMYSLEISEAMRVGAVLLNLQATDREGDSITYAIENGDPQRVFNLSETTGILTLGKALDRESTDRYILIITASDGRPDGTSTATVNIVVTDVNDNAPVFDPYLPRNLSVVEEEANAFVGQVKATDPDAGINGQVHYSLGNFNNLFRITSNGSIYTAVKLNREVRDYYELVVVATDGAVHPRHSTLTLAIKVLDIDDNSPVFTNSTYTVLVEENLPAGTTILQIEAKDVDLGANVSYRIRSPEVKHFFALHPFTGELSLLRSLDYEAFPDQEASITFLVEAFDIYGTMPPGIATVTVIVKDMNDYPPVFSKRIYKGMVAPDAVKGTPITTVYAEDADPPGLPASRVRYRVDDVQFPYPASIFEVEEDSGRVITRVNLNEEPTTIFKLVVVAFDDGEPVMSSSATVKILVLHPGEIPRFTQEEYRPPPVSELATKGTMVGVISAAAINQSIVYSIVSGNEEDTFGINNITGVIYVNGPLDYETRTSYVLRVQADSLEVVLANLRVPSKSNTAKVYIEIQDENNHPPVFQKKFYIGGVSEDARMFTSVLRVKATDKDTGNYSVMAYRLIIPPIKEGKEGFVVETYTGLIKTAMLFHNMRRSYFKFQVIATDDYGKGLSGKADVLVSVVNQLDMQVIVSNVPPTLVEKKIEDLTEILDRYVQEQIPGAKVVVESIGARRHGDAFSLEDYTKCDLTVYAIDPQTNRAIDRNELFKFLDGKLLDINKDFQPYYGEGGRILEIRTPEAVTSIKKRGESLGYTEGALLALAFIIILCCIPAILVVLVSYRQFKVRQAECTKTARIQAALPAAKPAVPAPAPVAAPPPPPPPPPGAHLYEELGDSSMHKYEMPQYGSRRRLLPPAGQEEYGEVVGEAEEEYEEEEEEPKKIKKPKVEIREPSEEEEVVVTIEKPPAAEPTYTTWKRARIFPMIFKKVRGLADKRGIVDLEGEEWQRRLEEEDKDYLKLTLDQEEATESTVESEEESSSDYTEYSEEESEFSESETTEEESESETPSEEEESSTPESEESESTESEGEKARKNIVLARRRPMVEEVKEVKGRKEEPQEEQKEPKMEEEEHSEEEESGPAPVEESTDPEAQDIPEEGSAESASVEGGVESEEESESGSSSSSSESQSGGPWGYQVPAYDRSKNANQKKSPGANSEGYNTAL", "length": 1790, "header": "tr|A0A087WZN9-1|A0A087WZN9_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": 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": "", "sequence": { "sequence": "MFRQFYLWTCLASGIILGSLFEICLGQYDDDWQYEDCKLARGGPPATIVAIDEESRNGTILVDNMLIKGTAGGPDPTIELSLKDNVDYWVLMDPVKQMLFLNSTGRVLDRDPPMNIHSIVVQVQCINKKVGTIIYHEVRIVVRDRNDNSPTFKHESYYATVNELTPVGTTIFTGFSGDNGATDIDDGPNGQIEYVIQYNPDDPTSNDTFEIPLMLTGNIVLRKRLNYEDKTRYFVIIQANDRAQNLNERRTTTTTLTVDVLDGDDLGPMFLPCVLVPNTRDCRPLTYQAAIPELRTPEELNPIIVTPPIQAIDQDRNIQPPSDRPGILYSILVGTPEDYPRFFHMHPRTAELSLLEPVNRDFHQKFDLVIKAEQDNGHPLPAFAGLHIEILDENNQSPYFTMPSYQGYILESAPVGATISDSLNLTSPLRIVALDKDIEDTKDPELHLFLNDYTSVFTVTQTGITRYLTLLQPVDREEQQTYTFSITAFDGVQESEPVIVNIQVMDANDNTPTFPEISYDVYVYTDMRPGDSVIQLTAVDADEGSNGEITYEILVGAQGDFIINKTTGLITIAPGVEMIVGRTYALTVQAADNAPPAERRNSICTVYIEVLPPNNQSPPRFPQLMYSLEISEAMRVGAVLLNLQATDREGDSITYAIENGDPQRVFNLSETTGILTLGKALDRESTDRYILIITASDGRPDGTSTATVNIVVTDVNDNAPVFDPYLPRNLSVVEEEANAFVGQVKATDPDAGINGQVHYSLGNFNNLFRITSNGSIYTAVKLNREVRDYYELVVVATDGAVHPRHSTLTLAIKVLDIDDNSPVFTNSTYTVLVEENLPAGTTILQIEAKDVDLGANVSYRIRSPEVKHFFALHPFTGELSLLRSLDYEAFPDQEASITFLVEAFDIYGTMPPGIATVTVIVKDMNDYPPVFSKRIYKGMVAPDAVKGTPITTVYAEDADPPGLPASRVRYRVDDVQFPYPASIFEVEEDSGRVITRVNLNEEPTTIFKLVVVAFDDGEPVMSSSATVKILVLHPGEIPRFTQEEYRPPPVSELATKGTMVGVISAAAINQSIVYSIVSGNEEDTFGINNITGVIYVNGPLDYETRTSYVLRVQADSLEVVLANLRVPSKSNTAKVYIEIQDENNHPPVFQKKFYIGGVSEDARMFTSVLRVKATDKDTGNYSVMAYRLIIPPIKEGKEGFVVETYTGLIKTAMLFHNMRRSYFKFQVIATDDYGKGLSGKADVLVSVVNQLDMQVIVSNVPPTLVEKKIEDLTEILDRYVQEQIPGAKVVVESIGARRHGDAFSLEDYTKCDLTVYAIDPQTNRAIDRNELFKFLDGKLLDINKDFQPYYGEGGRILEIRTPEAVTSIKKRGESLGYTEGALLALAFIIILCCIPAILVVLVSYRQFKVRQAECTKTARIQAALPAAKPAVPAPAPVAAPPPPPPPPPGAHLYEELGDSSMHKYEMPQYGSRRRLLPPAGQEEYGEVVGEAEEEYEEEEWARKRMIKLVVDREYETSSTGEDSAPECQRNRLHHPSIHSNINGNIYIAQNGSVVRTRRACLTDNLKVASPVRLGGPFKKLDKLAVTHEENVPLNTLSKGPFSTEKMNARPTLVTFAPCPVGTDNTAVKPLRNRLKSTVEQESMIDSKNIKEALEFHSDHTQSDDEELWMGPWNNLHIPMTKL", "length": 1682, "header": "tr|A0A087X1T6-1|A0A087X1T6_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": 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": "A0A2R8Y6C0-1", "url": "", "sequence": { "sequence": "MFRQFYLWTCLASGIILGSLFEICLGQYDDDCKLARGGPPATIVAIDEESRNGTILVDNMLIKGTAGGPDPTIELSLKDNVDYWVLMDPVKQMLFLNSTGRVLDRDPPMNIHSIVVQVQCINKKVGTIIYHEVRIVVRDRNDNSPTFKHESYYATVNELTPVGTTIFTGFSGDNGATDIDDGPNGQIEYVIQYNPDDPTSNDTFEIPLMLTGNIVLRKRLNYEDKTRYFVIIQANDRAQNLNERRTTTTTLTVDVLDGDDLGPMFLPCVLVPNTRDCRPLTYQAAIPELRTPEELNPIIVTPPIQAIDQDRNIQPPSDRPGILYSILVGTPEDYPRFFHMHPRTAELSLLEPVNRDFHQKFDLVIKAEQDNGHPLPAFAGLHIEILDENNQSPYFTMPSYQGYILESAPVGATISDSLNLTSPLRIVALDKDIEDTKDPELHLFLNDYTSVFTVTQTGITRYLTLLQPVDREEQQTYTFSITAFDGVQESEPVIVNIQVMDANDNTPTFPEISYDVYVYTDMRPGDSVIQLTAVDADEGSNGEITYEILVGAQGDFIINKTTGLITIAPGVEMIVGRTYALTVQAADNAPPAERRNSICTVYIEVLPPNNQSPPRFPQLMYSLEISEAMRVGAVLLNLQATDREGDSITYAIENGDPQRVFNLSETTGILTLGKALDRESTDRYILIITASDGRPDGTSTATVNIVVTDVNDNAPVFDPYLPRNLSVVEEEANAFVGQVKATDPDAGINGQVHYSLGNFNNLFRITSNGSIYTAVKLNREVRDYYELVVVATDGAVHPRHSTLTLAIKVLDIDDNSPVFTNSTYTVLVEENLPAGTTILQIEAKDVDLGANVSYRIRSPEVKHFFALHPFTGELSLLRSLDYEAFPDQEASITFLVEAFDIYGTMPPGIATVTVIVKDMNDYPPVFSKRIYKGMVAPDAVKGTPITTVYAEDADPPGLPASRVRYRVDDVQFPYPASIFEVEEDSGRVITRVNLNEEPTTIFKLVVVAFDDGEPVMSSSATVKILVLHPGEIPRFTQEEYRPPPVSELATKGTMVGVISAAAINQSIVYSIVSGNEEDTFGINNITGVIYVNGPLDYETRTSYVLRVQADSLEVVLANLRVPSKSNTAKVYIEIQDENNHPPVFQKKFYIGGVSEDARMFTSVLRVKATDKDTGNYSVMAYRLIIPPIKEGKEGFVVETYTGLIKTAMLFHNMRRSYFKFQVIATDDYGKGLSGKADVLVSVVNQLDMQVIVSNVPPTLVEKKIEDLTEILDRYVQEQIPGAKVVVESIGARRHGDAFSLEDYTKCDLTVYAIDPQTNRAIDRNELFKFLDGKLLDINKDFQPYYGEGGRILEIRTPEAVTSIKKRGESLGYTEGALLALAFIIILCCIPAILVVLVSYRQFKVRQAECTKTARIQAALPAAKPAVPAPAPVAAPPPPPPPPPGAHLYEELGDSSIWSFCWQLVICMRTCAIWRTLTRRGYGSEQQQLLRPSLLKPEELSMESGIDPGQEYGQDYYSYEHGYEMPQYGSRRRLLPPAGQEEYGEVVGEAEEEYEEEEWARKRMIKLVVDREYETSSTGEDSAPECQRNRLHHPSIHSNINGNIYIAQNGSVVRTRRACLTDNLKVASPVRLGGPFKKLDKLAVTHEENVPLNTLSKGPFSTEKMNARPTLVTFAPCPVGTDNTAVKPLRNRLKSTVEQESMIDSKNIKEALEFHSDHTQSDDEELWMGPWNNLHIPMTKL", "length": 1740, "header": "tr|A0A2R8Y6C0-1|A0A2R8Y6C0_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": 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" } ] } }, { "isoform_ac": "A0A2R8YEV2-1", "url": "", "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": "", "sequence": { "sequence": "MFRQFYLWTCLASGIILGSLFEICLGQYDDDWQYEDCKLARGGPPATIVAIDEESRNGTILVDNMLIKGTAGGPDPTIELSLKDNVDYWVLMDPVKQMLFLNSTGRVLDRDPPMNIHSIVVQVQCINKKVGTIIYHEVRIVVRDRNDNSPTFKHESYYATVNELTPVGTTIFTGFSGDNGATDIDDGPNGQIEYVIQYNPDDPTSNDTFEIPLMLTGNIVLRKRLNYEDKTRYFVIIQANDRAQNLNERRTTTTTLTVDVLDGDDLGPMFLPCVLVPNTRDCRPLTYQAAIPELRTPEELNPIIVTPPIQAIDQDRNIQPPSDRPGILYSILVGTPEDYPRFFHMHPRTAELSLLEPVNRDFHQKFDLVIKAEQDNGHPLPAFAGLHIEILDENNQSPYFTMPSYQGYILESAPVGATISDSLNLTSPLRIVALDKDIEDTKDPELHLFLNDYTSVFTVTQTGITRYLTLLQPVDREEQQTYTFSITAFDGVQESEPVIVNIQVMDANDNTPTFPEISYDVYVYTDMRPGDSVIQLTAVDADEGSNGEITYEILVGAQGDFIINKTTGLITIAPGVEMIVGRTYALTVQAADNAPPAERRNSICTVYIEVLPPNNQSPPRFPQLMYSLEISEAMRVGAVLLNLQATDREGDSITYAIENGDPQRVFNLSETTGILTLGKALDRESTDRYILIITASDGRPDGTSTATVNIVVTDVNDNAPVFDPYLPRNLSVVEEEANAFVGQVKATDPDAGINGQVHYSLGNFNNLFRITSNGSIYTAVKLNREVRDYYELVVVATDGAVHPRHSTLTLAIKVLDIDDNSPVFTNSTYTVLVEENLPAGTTILQIEAKDVDLGANVSYRIRSPEVKHFFALHPFTGELSLLRSLDYEAFPDQEASITFLVEAFDIYGTMPPGIATVTVIVKDMNDYPPVFSKRIYKGMVAPDAVKGTPITTVYAEDADPPGLPASRVRYRVDDVQFPYPASIFEVEEDSGRVITRVNLNEEPTTIFKLVVVAFDDGEPVMSSSATVKILVLHPGEIPRFTQEEYRPPPVSELATKGTMVGVISAAAINQSIVYSIVSGNEEDTFGINNITGVIYVNGPLDYETRTSYVLRVQADSLEVVLANLRVPSKSNTAKVYIEIQDENNHPPVFQKKFYIGGVSEDARMFTSVLRVKATDKDTGNYSVMAYRLIIPPIKEGKEGFVVETYTGLIKTAMLFHNMRRSYFKFQVIATDDYGKGLSGKADVLVSVVNQLDMQVIVSNVPPTLVEKKIEDLTEILDRYVQEQIPGAKVVVESIGARRHGDAFSLEDYTKCDLTVYAIDPQTNRAIDRNELFKFLDGKLLDINKDFQPYYGEGGRILEIRTPEAVTSIKKRGESLGYTEGALLALAFIIILCCIPAILVVLVSYRQFKVRQAECTKTARIQAALPAAKPAVPAPAPVAAPPPPPPPPPGAHLYEELGDSSMHNLFLLYHFQQSRGNNSVSEDRKHQQVVMPFSSNTIEAHKSAHVDGSLKSNKLKSARKFTFLSDEDDLSAHNPLYKENISQVSTNSDISQRTDFVDPFSPKIQAKSKSLRGPREKIQRLWSQSVSLPRRLMRKVPNRPEIIDLQQWQGTRQKAENENTGICTNKRGSSNPLLTTEEANLTEKEEIRQGETLMIEGTEQLKSLSSDSSFCFPRPHFSFSTLPTVSRTVELKSEPNVISSPAECSLELSPSRPCVLHSSLSRRETPICMLPIETERNIFENFAHPPNISPSACPLPPPPPISPPSPPPAPAPLAPPPDISPFSLFCPPPSPPSIPLPLPPPTFFPLSVSTSGPPTPPLLPPFPTPLPPPPPSIPCPPPPSASFLSTECVCITGVKCTTNLMPAEKIKSSMTQLSTTTVCKTDPQREPKGILRHVKNLAELEKSVANMYSQIEKNYLRTNVSELQTMCPSEVTNMEITSEQNKGSLNNIVEGTEKQSHSQSTSL", "length": 1962, "header": "tr|A2A3D8-1|A2A3D8_HUMAN Computationally mapped isoform of Protocadherin related 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": "", "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=4 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": "", "sequence": { "sequence": "MFRQFYLWTCLASGIILGSLFEICLGQYDDDCKLARGGPPATIVAIDEESRNGTILVDNMLIKGTAGGPDPTIELSLKDNVDYWVLMDPVKQMLFLNSTGRVLDRDPPMNIHSIVVQVQCINKKVGTIIYHEVRIVVRDRNDNSPTFKHESYYATVNELTPVGTTIFTGFSGDNGATDIDDGPNGQIEYVIQYNPDDPTSNDTFEIPLMLTGNIVLRKRLNYEDKTRYFVIIQANDRAQNLNERRTTTTTLTVDVLDGDDLGPMFLPCVLVPNTRDCRPLTYQAAIPELRTPEELNPIIVTPPIQAIDQDRNIQPPSDRPGILYSILVGTPEDYPRFFHMHPRTAELSLLEPVNRDFHQKFDLVIKEEPKKIKKPKVEIREPSEEEEVVVTIEKPPAAEPTYTTWKRARIFPMIFKKVRGLADKRGIVDLEGEEWQRRLEEEDKDYLKLTLDQEEATESTVESEEESSSDYTEYSEEESEFSESETTEEESESETPSEEEESSTPESEESESTESEGEKARKNIVLARRRPMVEEVKEVKGRKEEPQEEQKEPKMEEEEHSEEEESGPAPVEESTDPEAQDIPEEGSAESASVEGGVESEEESESGSSSSSSESQSGGPWGYQVPAYDRSKNANQKKSPGANSEGYNTAL", "length": 650, "header": "tr|A2A3E1-1|A2A3E1_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": 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": "", "sequence": { "sequence": "MFRQFYLWTCLASGIILGSLFEICLGQYDDDCKLARGGPPATIVAIDEESRNGTILVDNMLIKGTAGGPDPTIELSLKDNVDYWVLMDPVKQMLFLNSTGRVLDRDPPMNIHSIVVQVQCINKKVGTIIYHEVRIVVRDRNDNSPTFKHESYYATVNELTPVGTTIFTGFSGDNGATDIDDGPNGQIEYVIQYNPDDPTSNDTFEIPLMLTGNIVLRKRLNYEDKTRYFVIIQANDRAQNLNERRTTTTTLTVDVLDGDDLGPMFLPCVLVPNTRDCRPLTYQAAIPELRTPEELNPIIVTPPIQAIDQDRNIQPPSDRPGILYSILVGTPEDYPRFFHMHPRTAELSLLEPVNRDFHQKFDLVIKAEQDNGHPLPAFAGLHIEILDENNQSPYFTMPSYQGYILESAPVGATISDSLNLTSPLRIVALDKDIEDTKDPELHLFLNDYTSVFTVTQTGITRYLTLLQPVDREEQQTYTFSITAFDGVQESEPVIVNIQVMDANDNTPTFPEISYDVYVYTDMRPGDSVIQLTAVDADEGSNGEITYEILVGAQGDFIINKTTGLITIAPGVEMIVGRTYALTVQAADNAPPAERRNSICTVYIEVLPPNNQSPPRFPQLMYSLEISEAMRVGAVLLNLQATDREGDSITYAIENGDPQRVFNLSETTGILTLGKALDRESTDRYILIITASDGRPDGEEPKKIKKPKVEIREPSEEEEVVVTIEKPPAAEPTYTTWKRARIFPMIFKKVRGLADKRGIVDLEGEEWQRRLEEEDKDYLKLTLDQEEATESTVESEEESSSDYTEYSEEESEFSESETTEEESESETPSEEEESSTPESEESESTESEGEKARKNIVLARRRPMVEEVKEVKGRKEEPQEEQKEPKMEEEEHSEEEESGPAPVEESTDPEAQDIPEEGSAESASVEGGVESEEESESGSSSSSSESQSGGPWGYQVPAYDRSKNANQKKSPGANSEGYNTAL", "length": 981, "header": "tr|A2A3E4-1|A2A3E4_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": 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": "", "sequence": { "sequence": "MFRQFYLWTCLASGIILGSLFEICLGQYDDDCKLARGGPPATIVAIDEESRNGTILVDNMLIKGTAGGPDPTIELSLKDNVDYWVLMDPVKQMLFLNSTGRVLDRDPPMNIHSIVVQVQCINKKVGTIIYHEVRIVVRDRNDNSPTFKHESYYATVNELTPVGTTIFTGFSGDNGATDIDDGPNGQIEYVIQYNPDDPTSNDTFEIPLMLTGNIVLRKRLNYEDKTRYFVIIQANDRAQNLNERRTTTTTLTVDVLDGDDLGPMFLPCVLVPNTRDCRPLTYQAAIPELRTPEELNPIIVTPPIQAIDQDRNIQPPSDRPGILYSILVGTPEDYPRFFHMHPRTAELSLLEPVNRDFHQKFDLVIKAEQDNGHPLPAFAGLHIEILDENNQSPYFTMPSYQGYILESAPVGATISDSLNLTSPLRIVALDKDIEDEEPKKIKKPKVEIREPSEEEEVVVTIEKPPAAEPTYTTWKRARIFPMIFKKVRGLADKRGIVDLEGEEWQRRLEEEDKDYLKLTLDQEEATESTVESEEESSSDYTEYSEEESEFSESETTEEESESETPSEEEESSTPESEESESTESEGEKARKNIVLARRRPMVEEVKEVKGRKEEPQEEQKEPKMEEEEHSEEEESGPAPVEESTDPEAQDIPEEGSAESASVEGGVESEEESESGSSSSSSESQSGGPWGYQVPAYDRSKNANQKKSPGANSEGYNTAL", "length": 719, "header": "tr|A2A3E5-1|A2A3E5_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": 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": "", "sequence": { "sequence": "MFRQFYLWTCLASGIILGSLFEICLGQYDDDCKLARGGPPATIVAIDEESRNGTILVDNMLIKGTAGGPDPTIELSLKDNVDYWVLMDPVKQMLFLNSTGRVLDRDPPMNIHSIVVQVQCINKKVGTIIYHEVRIVVRDRNDNSPTFKHESYYATVNELTPVGTTIFTGFSGDNGATDIDDGPNGQIEYVIQYNPDDPTSNDTFEIPLMLTGNIVLRKRLNYEDKTRYFVIIQANDRAQNLNERRTTTTTLTVDVLDGDDLGPMFLPCVLVPNTRDCRPLTYQAAIPELRTPEELNPIIVTPPIQAIDQDRNIQPPSDRPGILYSILVGTPEDYPRFFHMHPRTAELSLLEPVNRDFHQKFDLVIKAEQDNGHPLPAFAGLHIEILDENNQSPYFTMPSYQGYILESAPVGATISDSLNLTSPLRIVALDKDIEDTKDPELHLFLNDYTSVFTVTQTGITRYLTLLQPVDREEQQTYTFSITAFDGVQESEPVIVNIQVMDANDNTPTFPEISYDVYVYTDMRPGDSVIQLTAVDADEGSNGEITYEILVGAQGDFIINKTTGLITIAPGVEMIVGRTYALTVQAADNAPPAERRNSICTVYIEVLPPNNQSPPRFPQLMYSLEISEAMRVGAVLLNLQATDREGDSITYAIENGDPQRVFNLSETTGILTLGKALDRESTDRYILIITASDGRPDGTSTATVNIVVTDVNDNAPVFDPYLPRNLSVVEEEANAFVGQVKATDPDAGINGQVHYSLGNFNNLFRITSNGSIYTAVKLNREVRDYYELVVVATDGAVHPRHSTLTLAIKVLDIDDNSPVFTNSTYTVLVEENLPAGTTILQIEAKDVDLGANVSYRIRSPEVKHFFALHPFTGELSLLRSLDYEAFPDQEASITFLVEAFDIYGTMPPGIATVTVIVKDMNDYPPVFSKRIYKGMVAPDAVKGTPITTVYAEDADPPGLPASRVRYRVDDVQFPYPASIFEVEEDSGRVITRVNLNEEPTTIFKLVVVAFDDGEPVMSSSATVKILVLHPGEIPRFTQEEYRPPPVSELATKGTMVGVISAAAINQSIVYSIVSGNEEDTFGINNITGVIYVNGPLDYETRTSYVLRVQADSLEVVLANLRVPSKSNTAKVYIEIQDENNHPPVFQKKFYIGGVSEDARMFTSVLRVKATDKDTGNYSVMAYRLIIPPIKEGKEGFVVETYTGLIKTAMLFHNMRRSYFKFQVIATDDYGKGLSGKADVLVSVVNQLDMQVIVSNVPPTLVEKKIEDLTEILDRYVQEQIPGAKVVVESIGARRHGDAFSLEDYTKCDLTVYAIDPQTNRAIDRNELFKFLDGKLLDINKDFQPYYGEGGRILEIRTPEAVTSIKKRGESLGYTEGALLALAFIIILCCIPAILVVLVSYRQRQAECTKTARIQAALPAAKPAVPAPAPVAAPPPPPPPPPGAHLYEELGDSSILFLLYHFQQSRGNNSVSEDRKHQQVVMPFSSNTIEAHKSAHVDGSLKSNKLKSARKFTFLSDEDDLSAHNPLYKENISQVSTNSDISQRTDFVDPFSPKIQAKSKSLRGPREKIQRLWSQSVSLPRRLMRKVPNRPEIIDLQQWQGTRQKAENENTGICTNKRGSSNPLLTTEEANLTEKEEIRQGETLMIEGTEQLKSLSSDSSFCFPRPHFSFSTLPTVSRTVELKSEPNVISSPAECSLELSPSRPCVLHSSLSRRETPICMLPIETERNIFENFAHPPNISPSACPLPPPPPISPPSPPPAPAPLAPPPDISPFSLFCPPPSPPSIPLPLPPPTFFPLSVSTSGPPTPPLLPPFPTPLPPPPPSIPCPPPPSASFLSTECVCITGVKCTTNLMPAEKIKSSMTQLSTTTVCKTDPQREPKGILRHVKNLAELEKSVANMYSQIEKNYLRTNVSELQTMCPSEVTNMEITSEQNKGSLNNIVEGTEKQSHSQSTSL", "length": 1952, "header": "tr|A2A3E6-1|A2A3E6_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": 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": "", "sequence": { "sequence": "MFRQFYLWTCLASGIILGSLFEICLGQYDDDCKLARGGPPATIVAIDEESRNGTILVDNMLIKGTAGGPDPTIELSLKDNVDYWVLMDPVKQMLFLNSTGRVLDRDPPMNIHSIVVQVQCINKKVGTIIYHEVRIVVRDRNDNSPTFKHESYYATVNELTPVGTTIFTGFSGDNGATDIDDGPNGQIEYVIQYNPDDPTSNDTFEIPLMLTGNIVLRKRLNYEDKTRYFVIIQANDRAQNLNERRTTTTTLTVDVLDGDDLGPMFLPCVLVPNTRDCRPLTYQAAIPELRTPEELNPIIVTPPIQAIDQDRNIQPPSDRPGILYSILVGTPEDYPRFFHMHPRTAELSLLEPVNRDFHQKFDLVIKAEQDNGHPLPAFAGLHIEILDENNQSPYFTMPSYQGYILESAPVGATISDSLNLTSPLRIVALDKDIEDTKDPELHLFLNDYTSVFTVTQTGITRYLTLLQPVDREEQQTYTFSITAFDGVQESEPVIVNIQVMDANDNTPTFPEISYDVYVYTDMRPGDSVIQLTAVDADEGSNGEITYEILVGAQGDFIINKTTGLITIAPGVEMIVGRTYALTVQAADNAPPAERRNSICTVYIEVLPPNNQSPPRFPQLMYSLEISEAMRVGAVLLNLQATDREGDSITYAIENGDPQRVFNLSETTGILTLGKALDRESTDRYILIITASDGRPDGTSTATVNIVVTDVNDNAPVFDPYLPRNLSVVEEEANAFVGQVKATDPDAGINGQVHYSLGNFNNLFRITSNGSIYTAVKLNREVRDYYELVVVATDGAVHPRHSTLTLAIKVLDIDDNSPVFTNSTYTVLVEENLPAGTTILQIEAKDVDLGANVSYRIRSPEVKHFFALHPFTGELSLLRSLDYEAFPDQEASITFLVEAFDIYGTMPPGIATVTVIVKDMNDYPPVFSKRIYKGMVAPDAVKGTPITTVYAEDADPPGLPASRVRYRVDDVQFPYPASIFEVEEDSGRVITRVNLNEEPTTIFKLVVVAFDDGEPVMSSSATVKILVLHPGEIPRFTQEEYRPPPVSELATKGTMVGVISAAAINQSIVYSIVSGNEEDTFGINNITGVIYVNGPLDYETRTSYVLRVQADSLEVVLANLRVPSKSNTAKVYIEIQDENNHPPVFQKKFYIGGVSEDARMFTSVLRVKATDKDTGNYSVMAYRLIIPPIKEGKEGFVVETYTGLIKTAMLFHNMRRSYFKFQVIATDDYGKGLSGKADVLVSVVNQLDMQVIVSNVPPTLVEKKIEDLTEILDRYVQEQIPGAKVVVESIGARRHGDAFSLEDYTKCDLTVYAIDPQTNRAIDRNELFKFLDGKLLDINKDFQPYYGEGGRILEIRTPEAVTSIKKRGESLGYTEGALLALAFIIILCCIPAILVVLVSYRQFKVRQAECTKTARIQAALPAAKPAVPAPAPVAAPPPPPPPPPGAHLYEELGDSSMHNLFLLYHFQQSRGNNSVSEDRKHQQVVMPFSSNTIEAHKSAHVDGSLKSNKLKSARKFTFLSDEDDLSAHNPLYKENISQVSTNSDISQRTDFVDPFSPKIQAKSKSLRGPREKIQRLWSQSVSLPRRLMRKVPNRPEIIDLQQWQGTRQKAENENTGICTNKRGSSNPLLTTEEANLTEKEEIRQGETLMIEGTEQLKSLSSDSSFCFPRPHFSFSTLPTVSRTVELKSEPNVISSPAECSLELSPSRPCVLHSSLSRRETPICMLPIETERNIFENFAHPPNISPSACPLPPPPPISPPSPPPAPAPLAPPPDISPFSLFCPPPSPPSIPLPLPPPTFFPLSVSTSGPPTPPLLPPFPTPLPPPPPSIPCPPPPSASFLSTECVCITGVKCTTNLMPAEKIKSSMTQLSTTTVCKTDPQREPKGILRHVKNLAELEKSVANMYSQIEKNYLRTNVSELQTMCPSEVTNMEITSEQNKGSLNNIVEGTEKQSHSQSTSL", "length": 1957, "header": "tr|A2A3E7-1|A2A3E7_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": 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": "", "sequence": { "sequence": "MFRQFYLWTCLASGIILGSLFEICLGQYDDGTILVDNMLIKGTAGGPDPTIELSLKDNVDYWVLMDPVKQMLFLNSTGRVLDRDPPMNIHSIVVQVQCINKKVGTIIYHEVRIVVRDRNDNSPTFKHESYYATVNELTPVGTTIFTGFSGDNGATDIDDGPNGQIEYVIQYNPDDPTSNDTFEIPLMLTGNIVLRKRLNYEDKTRYFVIIQANDRAQNLNERRTTTTTLTVDVLDGDDLGPMFLPCVLVPNTRDCRPLTYQAAIPELRTPEELNPIIVTPPIQAIDQDRNIQPPSDRPGILYSILVGTPEDYPRFFHMHPRTAELSLLEPVNRDFHQKFDLVIKAEQDNGHPLPAFAGLHIEILDENNQSPYFTMPSYQGYILESAPVGATISDSLNLTSPLRIVALDKDIEDTKDPELHLFLNDYTSVFTVTQTGITRYLTLLQPVDREEQQTYTFSITAFDGVQESEPVIVNIQVMDANDNTPTFPEISYDVYVYTDMRPGDSVIQLTAVDADEGSNGEITYEILVGAQGDFIINKTTGLITIAPGVEMIVGRTYALTVQAADNAPPAERRNSICTVYIEVLPPNNQSPPRFPQLMYSLEISEAMRVGAVLLNLQATDREGDSITYAIENGDPQRVFNLSETTGILTLGKALDRESTDRYILIITASDGRPDGTSTATVNIVVTDVNDNAPVFDPYLPRNLSVVEEEANAFVGQVKATDPDAGINGQVHYSLGNFNNLFRITSNGSIYTAVKLNREVRDYYELVVVATDGAVHPRHSTLTLAIKVLDIDDNSPVFTNSTYTVLVEENLPAGTTILQIEAKDVDLGANVSYRIRSPEVKHFFALHPFTGELSLLRSLDYEAFPDQEASITFLVEAFDIYGTMPPGIATVTVIVKDMNDYPPVFSKRIYKGMVAPDAVKGTPITTVYAEDADPPGLPASRVRYRVDDVQFPYPASIFEVEEDSGRVITRVNLNEEPTTIFKLVVVAFDDGEPVMSSSATVKILVLHPGEIPRFTQEEYRPPPVSELATKGTMVGVISAAAINQSIVYSIVSGNEEDTFGINNITGVIYVNGPLDYETRTSYVLRVQADSLEVVLANLRVPSKSNTAKVYIEIQDENNHPPVFQKKFYIGGVSEDARMFTSVLRVKATDKDTGNYSVMAYRLIIPPIKEGKEGFVVETYTGLIKTAMLFHNMRRSYFKFQVIATDDYGKGLSGKADVLVSVVNQLDMQVIVSNVPPTLVEKKIEDLTEILDRYVQEQIPGAKVVVESIGARRHGDAFSLEDYTKCDLTVYAIDPQTNRAIDRNELFKFLDGKLLDINKDFQPYYGEGGRILEIRTPEAVTSIKKRGESLGYTEGALLALAFIIILCCIPAILVVLVSYRQRQAECTKTARIQAALPAAKPAVPAPAPVAAPPPPPPPPPGAHLYEELGDSSMHNLFLLYHFQQSRGNNSVSEDRKHQQVVMPFSSNTIEAHKSAHVDGSLKSNKLKSARKFTFLSDEDDLSAHNPLYKENISQVSTNSDISQRTDFVDPFSPKIQAKSKSLRGPREKIQRLWSQSVSLPRRLMRKVPNRPEIIDLQQWQGTRQKAENENTGICTNKRGSSNPLLTTEEANLTEKEEIRQGETLMIEGTEQLKSLSSDSSFCFPRPHFSFSTLPTVSRTVELKSEPNVISSPAECSLELSPSRPCVLHSSLSRRETPICMLPIETERNIFENFAHPPNISPSACPLPPPPPISPPSPPPAPAPLAPPPDISPFSLFCPPPSPPSIPLPLPPPTFFPLSVSTSGPPTPPLLPPFPTPLPPPPPSIPCPPPPSASFLSTECVCITGVKCTTNLMPAEKIKSSMTQLSTTTVCKTDPQREPKGILRHVKNLAELEKSVANMYSQIEKNYLRTNVSELQTMCPSEVTNMEITSEQNKGSLNNIVEGTEKQSHSQSTSL", "length": 1932, "header": "tr|A2A3E8-1|A2A3E8_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": 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": "", "sequence": { "sequence": "MFRQFYLWTCLASGIILGSLFEICLGQYDDDCKLARGGPPATIVAIDEESRNGTILVDNMLIKGTAGGPDPTIELSLKDNVDYWVLMDPVKQMLFLNSTGRVLDRDPPMNIHSIVVQVQCINKKVGTIIYHEVRIVVRDRNDNSPTFKHESYYATVNELTPVGTTIFTGFSGDNGATDIDDGPNGQIEYVIQYNPDDPTSNDTFEIPLMLTGNIVLRKRLNYEDKTRYFVIIQANDRAQNLNERRTTTTTLTVDVLDGDDLGPMFLPCVLVPNTRDCRPLTYQAAIPELRTPEELNPIIVTPPIQAIDQDRNIQPPSDRPGILYSILVGTPEDYPRFFHMHPRTAELSLLEPVNRDFHQKFDLVIKAEQDNGHPLPAFAGLHIEILDENNQSPYFTMPSYQGYILESAPVGATISDSLNLTSPLRIVALDKDIEDTKDPELHLFLNDYTSVFTVTQTGITRYLTLLQPVDREEQQTYTFSITAFDGVQESEPVIVNIQVMDANDNTPTFPEISYDVYVYTDMRPGDSVIQLTAVDADEGSNGEITYEILVGAQGDFIINKTTGLITIAPGVEMIVGRTYALTVQAADNAPPAERRNSICTVYIEVLPPNNQSPPRFPQLMYSLEISEAMRVGAVLLNLQATDREGDSITYAIENGDPQRVFNLSETTGILTLGKALDRESTDRYILIITASDGRPDGTSTATVNIVVTDVNDNAPVFDPYLPRNLSVVEEEANAFVGQVKATDPDAGINGQVHYSLGNFNNLFRITSNGSIYTAVKLNREVRDYYELVVVATDGAVHPRHSTLTLAIKVLDIDDNSPVFTNSTYTVLVEENLPAGTTILQIEAKDVDLGANVSYRIRSPEVKHFFALHPFTGELSLLRSLDYEAFPDQEASITFLVEAFDIYGTMPPGIATVTVIVKDMNDYPPVFSKRIYKGMVAPDAVKGTPITTVYAEDADPPGLPASRVRYRVDDVQFPYPASIFEVEEDSGRVITRVNLNEEPTTIFKLVVVAFDDGEPVMSSSATVKILVLHPGEIPRFTQEEYRPPPVSELATKGTMVGVISAAAINQSIVYSIVSGNEEDTFGINNITGVIYVNGPLDYETRTSYVLRVQADSLEVVLANLRVPSKSNTAKVYIEIQDENNHPPVFQKKFYIGGVSEDARMFTSVLRVKATDKDTGNYSVMAYRLIIPPIKEGKEGFVVETYTGLIKTAMLFHNMRRSYFKFQVIATDDYGKGLSGKADVLVSVVNQLDMQVIVSNVPPTLVEKKIEDLTEILDRYVQEQIPGAKVVVESIGARRHGDAFSLEDYTKCDLTVYAIDPQTNRAIDRNELFKFLDGKLLDINKDFQPYYGEGGRILEIRTPEAVTSIKKRGESLGYTEGALLALAFIIILCCIPAILVVLVSYRQFKVRQAECTKTARIQAALPAAKPAVPAPAPVAAPPPPPPPPPGAHLYEELGDSSMHKYEMPQYGSRRRLLPPAGQEEYGEVVGEAEEEYEEEEWARKRMIKLVVDREYETSSTGEDSAPECQRNRLHHPSIHSNINGNIYIAQNGSVVRTRRACLTDNLKVASPVRLGGPFKKLDKLAVTHEENVPLNTLSKGPFSTEKMNARPTLVTFAPCPVGTDNTAVKPLRNRLKSTVEQESMIDSKNIKEALEFHSDHTQSDDEELWMGPWNNLHIPMTKL", "length": 1677, "header": "tr|A9Z1W1-1|A9Z1W1_HUMAN Computationally mapped isoform of Protocadherin related 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": "", "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": "", "sequence": { "sequence": "MFRQFYLWTCLASGIILGSLFEICLGQYDDDCKLARGGPPATIVAIDEESRNGTILVDNMLIKGTAGGPDPTIELSLKDNVDYWVLMDPVKQMLFLNSTGRVLDRDPPMNIHSIVVQVQCINKKVGTIIYHEVRIVVRDRNDNSPTFKHESYYATVNELTPVGTTIFTGFSGDNGATDIDDGPNGQIEYVIQYNPDDPTSNDTFEIPLMLTGNIVLRKRLNYEDKTRYFVIIQANDRAQNLNERRTTTTTLTVDVLDGDDLGPMFLPCVLVPNTRDCRPLTYQAAIPELRTPEELNPIIVTPPIQAIDQDRNIQPPSDRPGILYSILVGTPEDYPRFFHMHPRTAELSLLEPVNRDFHQKFDLVIKAEQDNGHPLPAFAGLHIEILDENNQSPYFTMPSYQGYILESAPVGATISDSLNLTSPLRIVALDKDIEDTKDPELHLFLNDYTSVFTVTQTGITRYLTLLQPVDREEQQTYTFSITAFDGVQESEPVIVNIQVMDANDNTPTFPEISYDVYVYTDMRPGDSVIQLTAVDADEGSNGEITYEILVGAQGDFIINKTTGLITIAPGVEMIVGRTYALTVQAADNAPPAERSTGILTLGKALDRESTDRYILIITASDGRPDGTSTATVNIVVTDVNDNAPVFDPYLPRNLSVVEEEANAFVGQVKATDPDAGINGQVHYSLGNFNNLFRITSNGSIYTAVKLNREVRDYYELVVVATDGAVHPRHSTLTLAIKVLDIDDNSPVFTNSTYTVLVEENLPAGTTILQIEAKDVDLGANVSYRIRSPEVKHFFALHPFTGELSLLRSLDYEAFPDQEASITFLVEAFDIYGTMPPGIATVTVIVKDMNDYPPVFSKRIYKGMVAPDAVKGTPITTVYAEDADPPGLPASRVRYRVDDVQFPYPASIFEVEEDSGRVITRVNLNEEPTTIFKLVVVAFDDGEPVMSSSATVKILVLHPGEIPRFTQEEYRPPPVSELATKGTMVGVISAAAINQSIVYSIVSGNEEDTFGINNITGVIYVNGPLDYETRTSYVLRVQADSLEVVLANLRVPSKSNTAKVYIEIQDENNHPPVFQKKFYIGGVSEDARMFTSVLRVKATDKDTGNYSVMAYRLIIPPIKEGKEGFVVETYTGLIKTAMLFHNMRRSYFKFQVIATDDYGKGLSGKADVLVSVVNQLDMQVIVSNVPPTLVEKKIEDLTEILDRYVQEQIPGAKVVVESIGARRHGDAFSLEDYTKCDLTVYAIDPQTNRAIDRNELFKFLDGKLLDINKDFQPYYGEGGRILEIRTPEAVTSIKKRGESLGYTEGALLALAFIIILCCIPAILVVLVSYRQFKVRQAECTKTARIQAALPAAKPAVPAPAPVAAPPPPPPPPPGAHLYEELGDSSMHNLFLLYHFQQSRGNNSVSEDRKHQQVVMPFSSNTIEAHKSAHVDGSLKSNKLKSARKFTFLSDEDDLSAHNPLYKENISQVSTNSDISQRTDFVDPFSPKIQAKSKSLRGPREKIQRLWSQSVSLPRRLMRKVPNRPEIIDLQQWQGTRQKAENENTGICTNKRGSSNPLLTTEEANLTEKEEIRQGETLMIEGTEQLKSLSSDSSFCFPRPHFSFSTLPTVSRTVELKSEPNVISSPAECSLELSPSRPCVLHSSLSRRETPICMLPIETERNIFENFAHPPNISPSACPLPPPPPISPPSPPPAPAPLAPPPDISPFSLFCPPPSPPSIPLPLPPPTFFPLSVSTSGPPTPPLLPPFPTPLPPPPPSIPCPPPPSASFLSTECVCITGVKCTTNLMPAEKIKSSMTQLSTTTVCKTDPQREPKGILRHVKNLAELEKSVANMYSQIEKNYLRTNVSELQTMCPSEVTNMEITSEQNKGSLNNIVEGTEKQSHSQSTSL", "length": 1886, "header": "tr|E7EM53-1|E7EM53_HUMAN Computationally mapped isoform of Protocadherin related 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": "", "sequence": { "sequence": "MFRQFYLWTCLASGIILGSLFEICLGQYDDDCKLARGGPPATIVAIDEESRNGTILVDNMLIKGTAGGPDPTIELSLKDNVDYWVLMDPVKQMLFLNSTGRVLDRDPPMNIHSIVVQVQCINKKVGTIIYHEVRIVVRDRNDNSPTFKHESYYATVNELTPVGTTIFTGFSGDNGATDIDDGPNGQIEYVIQYNPDDPTSNDTFEIPLMLTGNIVLRKRLNYEDKTRYFVIIQANDRAQNLNERRTTTTTLTVDVLDGDDLGPMFLPCVLVPNTRDCRPLTYQAAIPELRTPDLGSLCSGTNSWCQGRSGVHWSSPAWRCLFPRRLHQM", "length": 329, "header": "tr|E7EM97-1|E7EM97_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": 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": "", "sequence": { "sequence": "MFRQFYLWTCLASGIILGSLFEICLGQYDDDCKLARGGPPATIVAIDEESRNGTILVDNMLIKGTAGGPDPTIELSLKDNVDYWVLMDPVKQMLFLNSTGRVLDRDPPMNIHSIVVQVQCINKKVGTIIYHEVRIVVRDRNDNSPTFKHESYYATVNELTPVGTTIFTGFSGDNGATDIDDGPNGQIEYVIQYNPDDPTSNDTFEIPLMLTGNIVLRKRLNYEDKTRYFVIIQANDRAQNLNERRTTTTTLTVDVLDGDDLGPMFLPCVLVPNTRDCRPLTYQAAIPELRTPEELNPIIVTPPIQAIDQDRNIQPPSDRPGILYSILVGTPEDYPRFFHMHPRTAELSLLEPVNRDFHQKFDLVIKAEQDNGHPLPAFAGLHIEILDENNQSPYFTMPSYQGYILESAPVGATISDSLNLTSPLRIVALDKDIEDTKDPELHLFLNDYTSVFTVTQTGITRYLTLLQPVDREEQQTYTFSITAFDGVQESEPVIVNIQVMDANDNTPTFPEISYDVYVYTDMRPGDSVIQLTAVDADEGSNGEITYEILVGAQGDFIINKTTGLITIAPGVEMIVGRTYALTVQAADNAPPAERRNSICTVYIEVLPPNNQSPPRFPQLMYSLEISEAMRVGAVLLNLQHGDSNLRESTGQGKH", "length": 654, "header": "tr|E7EMG8-1|E7EMG8_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": 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": "", "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": "", "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": "", "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": "", "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": "", "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" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "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/uniprot/Q96QU1#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", 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"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 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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/uniprot/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/uniprot/Q96QU1" }, { "database": "RefSeq", "id": "NP_001136238", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136238" }, { "database": "RefSeq", "id": "NP_001136244", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136244" }, { "database": "RefSeq", "id": "NP_001136241", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136241" }, { "database": "RefSeq", "id": "NP_001136245", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136245" }, { "database": "RefSeq", "id": "NP_001136242", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136242" }, { "database": "RefSeq", "id": "NP_001136243", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136243" }, { "database": "RefSeq", "id": "NP_149045", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_149045" }, { "database": "RefSeq", "id": "NP_001136237", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136237" }, { "database": "RefSeq", "id": "NP_001136236", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136236" }, { "database": "RefSeq", "id": "NP_001136235", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136235" } ], "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": "Hum. Mol. Genet.", "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/uniprot/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/uniprot/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": "Hum. Genet.", "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/uniprot/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": "Besnard F., Shimizu N., Ferrara P., Bensussan A., Gaulard P., Marie-Cardine A., Schmitt C., Giustiniani J., Beaud G., Leroy K., Loyaux D., Rouget-Quermalet V.", "evidence": [ { "database": "UniProtKB", "id": "Q96QU1", "url": "https://www.uniprot.org/uniprot/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_001136236", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136236" }, { "database": "RefSeq", "id": "NP_149045", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_149045" }, { "database": "RefSeq", "id": "NP_001136245", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136245" }, { "database": "RefSeq", "id": "NP_001136242", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136242" }, { "database": "RefSeq", "id": "NP_001136237", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136237" }, { "database": "RefSeq", "id": "NP_001136244", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136244" }, { "database": "RefSeq", "id": "NP_001136235", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136235" }, { "database": "RefSeq", "id": "NP_001136241", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136241" }, { "database": "RefSeq", "id": "NP_001136238", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136238" }, { "database": "RefSeq", "id": "NP_001136243", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136243" } ], "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": "Hum. 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Vis.", "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/uniprot/Q96QU1" } ], "reference": [ { "type": "PubMed", "id": "22815625", "url": "https://glygen.org/publication/PubMed/22815625" } ] }, { "title": "Molecular Analysis of Twelve Pakistani Families with Nonsyndromic or Syndromic Hearing Loss.", "journal": "Genet. Test. Mol. 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