{ "uniprot_canonical_ac": "P42658-1", "uniprot_ac": "P42658", "uniprot_id": "DPP6_HUMAN", "mass": { "chemical_mass": 97588.0, "monoisotopic_mass": 97588.0 }, "refseq": { "ac": "NP_570629", "name": "dipeptidyl aminopeptidase-like protein 6 isoform 1", "summary": "This gene encodes a single-pass type II membrane protein that is a member of the peptidase S9B family of serine proteases. This protein has no detectable protease activity, most likely due to the absence of the conserved serine residue normally present in the catalytic domain of serine proteases. However, it does bind specific voltage-gated potassium channels and alters their expression and biophysical properties. Variations in this gene may be associated with susceptibility to amyotrophic lateral sclerosis and with idiopathic ventricular fibrillation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_570629" }, "gene_names": [ { "name": "DPP6", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P42658", "id": "P42658" }, { "name": "DPL1; DPPX; MRD33; VF2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001277181", "id": "NP_001277181" }, { "name": "DPP6", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001277181", "id": "NP_001277181" } ], "protein_names": [ { "name": "Dipeptidyl aminopeptidase-like protein 6", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P42658" }, { "name": "DPP VI", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P42658" }, { "name": "DPPX", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P42658" }, { "name": "Dipeptidyl aminopeptidase-related protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P42658" }, { "name": "Dipeptidyl peptidase 6", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P42658" }, { "name": "Dipeptidyl peptidase IV-like protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P42658" }, { "name": "Dipeptidyl peptidase VI", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P42658" }, { "name": "dipeptidyl aminopeptidase IV-related protein; dipeptidyl peptidase IV-related protein; dipeptidyl aminopeptidase-like protein 6; DPP VI; dipeptidyl peptidase VI; dipeptidyl-peptidase 6", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001277182", "id": "NP_001277182" }, { "name": "dipeptidyl aminopeptidase-like protein 6 isoform 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_570629", "id": "NP_570629" }, { "name": "dipeptidyl aminopeptidase-like protein 6 isoform 3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034439", "id": "NP_001034439" }, { "name": "dipeptidyl aminopeptidase-like protein 6 isoform 4", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001277181", "id": "NP_001277181" }, { "name": "dipeptidyl aminopeptidase-like protein 6 isoform 5", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001277182", "id": "NP_001277182" } ], "function": [ { "annotation": "A novel missense mutation (c.1578G>C/p.Q526H) of DPP6 was identified and co-segregated with affected patients in a family with suspicious idiopathic ventricular fibrillation.", "evidence": [ { "database": "RefSeq", "id": "NP_570629", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_570629" }, { "database": "PubMed", "id": "29474731", "url": "https://glygen.org/publication/PubMed/29474731" }, { "database": "RefSeq", "id": "NP_001277182", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001277182" }, { "database": "RefSeq", "id": "NP_001277181", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001277181" }, { "database": "RefSeq", "id": "NP_001034439", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034439" } ] }, { "annotation": "Analysis of the differential expression of two distinct forms of mRNA for the cow and rat orthologs. Names the variants S and L.", "evidence": [ { "database": "RefSeq", "id": "NP_570629", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_570629" }, { "database": "PubMed", "id": "1729689", "url": "https://glygen.org/publication/PubMed/1729689" }, { "database": "RefSeq", "id": "NP_001277182", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001277182" }, { "database": "RefSeq", "id": "NP_001277181", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001277181" }, { "database": "RefSeq", "id": "NP_001034439", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034439" } ] }, { "annotation": "Dipeptidyl peptidase like 6 promoter methylation is a potential prognostic biomarker for pancreatic ductal adenocarcinoma.", "evidence": [ { "database": "RefSeq", "id": "NP_570629", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_570629" }, { "database": "PubMed", "id": "32701143", "url": "https://glygen.org/publication/PubMed/32701143" }, { "database": "RefSeq", "id": "NP_001277182", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001277182" }, { "database": "RefSeq", "id": "NP_001277181", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001277181" }, { "database": "RefSeq", "id": "NP_001034439", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034439" } ] }, { "annotation": "In an unresolved autosomal dominant dementia family significantly linked to 7q36, there was a chromosomal inversion of ca. 4 Mb, segregating on the disease haplotype and disrupting the coding sequence of DPP6. The missense variants found in patients destabilize DPP6 and reduce its membrane expression. DPP6 loss plays a in dementia.", "evidence": [ { "database": "RefSeq", "id": "NP_570629", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_570629" }, { "database": "PubMed", "id": "30874922", "url": "https://glygen.org/publication/PubMed/30874922" }, { "database": "RefSeq", "id": "NP_001277182", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001277182" }, { "database": "RefSeq", "id": "NP_001277181", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001277181" }, { "database": "RefSeq", "id": "NP_001034439", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034439" } ] }, { "annotation": "Neuronal Differentiation of Induced Pluripotent Stem Cells from Schizophrenia Patients in Two-Dimensional and in Three-Dimensional Cultures Reveals Increased Expression of the Kv4.2 Subunit DPP6 That Contributes to Decreased Neuronal Activity.", "evidence": [ { "database": "RefSeq", "id": "NP_570629", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_570629" }, { "database": "PubMed", "id": "33143549", "url": "https://glygen.org/publication/PubMed/33143549" }, { "database": "RefSeq", "id": "NP_001277182", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001277182" }, { "database": "RefSeq", "id": "NP_001277181", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001277181" }, { "database": "RefSeq", "id": "NP_001034439", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034439" } ] }, { "annotation": "Promotes cell surface expression of the potassium channel KCND2 (PubMed:15454437, PubMed:19441798). Modulates the activity and gating characteristics of the potassium channel KCND2 (PubMed:18364354). Has no dipeptidyl aminopeptidase activity (PubMed:8103397, PubMed:15476821).", "evidence": [ { "database": "UniProtKB", "id": "P42658", "url": "https://www.uniprot.org/uniprot/P42658#function" }, { "database": "PubMed", "id": "8103397", "url": "https://glygen.org/publication/PubMed/8103397" }, { "database": "PubMed", "id": "15454437", "url": "https://glygen.org/publication/PubMed/15454437" }, { "database": "PubMed", "id": "15476821", "url": "https://glygen.org/publication/PubMed/15476821" }, { "database": "PubMed", "id": "18364354", "url": "https://glygen.org/publication/PubMed/18364354" } ] }, { "annotation": "The slope of the activation curve of DPP6-L747P was slightly decreased.", "evidence": [ { "database": "RefSeq", "id": "NP_570629", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_570629" }, { "database": "PubMed", "id": "31476289", "url": "https://glygen.org/publication/PubMed/31476289" }, { "database": "RefSeq", "id": "NP_001277182", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001277182" }, { "database": "RefSeq", "id": "NP_001277181", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001277181" }, { "database": "RefSeq", "id": "NP_001034439", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034439" } ] }, { "annotation": "This gene encodes a single-pass type II membrane protein that is a member of the peptidase S9B family of serine proteases. This protein has no detectable protease activity, most likely due to the absence of the conserved serine residue normally present in the catalytic domain of serine proteases. However, it does bind specific voltage-gated potassium channels and alters their expression and biophysical properties. Variations in this gene may be associated with susceptibility to amyotrophic lateral sclerosis and with idiopathic ventricular fibrillation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014].", "evidence": [ { "database": "RefSeq", "id": "NP_570629", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_570629" }, { "database": "RefSeq", "id": "NP_001277182", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001277182" }, { "database": "RefSeq", "id": "NP_001277181", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001277181" }, { "database": "RefSeq", "id": "NP_001034439", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034439" } ] } ], "disease": [ { "disease_id": "DOID:0070063", "recommended_name": { "id": "DOID:0070063", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070063", "name": "autosomal dominant intellectual developmental disorder 33", "description": "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the DPP6 gene on chromosome 7q36.2." }, "synonyms": [ { "id": "DOID:0070063", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070063", "name": "autosomal dominant non-syndromic intellectual disability 33", "description": "" }, { "id": "DOID:0070063", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070063", "name": "MRD33", "description": "" }, { "id": "DOID:0070063", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070063", "name": "autosomal dominant mental retardation 33", "description": "" }, { "id": "MONDO:0014580", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014580", "name": "intellectual disability, autosomal dominant 33", "description": "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the DPP6 gene." }, { "id": "MONDO:0014580", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014580", "name": "DPP6 autosomal dominant non-syndromic intellectual disability", "description": "" }, { "id": "MONDO:0014580", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014580", "name": "MRD33", "description": "" }, { "id": "MONDO:0014580", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014580", "name": "autosomal dominant intellectual disability 33", "description": "" }, { "id": "MONDO:0014580", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014580", "name": "autosomal dominant mental retardation 33", "description": "" }, { "id": "MONDO:0014580", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014580", "name": "autosomal dominant non-syndromic intellectual disability caused by mutation in DPP6", "description": "" }, { "id": "MONDO:0014580", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014580", "name": "intellectual disability, autosomal dominant 33", "description": "" }, { "id": "MONDO:0014580", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014580", "name": "intellectual disability, autosomal dominant type 33", "description": "" }, { "id": "MONDO:0014580", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014580", "name": "mental retardation, autosomal dominant type 33", "description": "" }, { "id": "MONDO:0014580", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014580", "name": "autosomal dominant non-syndromic intellectual disability 33", "description": "" }, { "id": "MONDO:0014580", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014580", "name": "mental retardation, autosomal dominant 33", "description": "" }, { "id": "MIM:616311", "resource": "MIM", "url": "https://www.omim.org/entry/616311", "name": "Intellectual developmental disorder, autosomal dominant 33", "description": "Intellectual developmental disorder, autosomal dominant 33" } ], "evidence": [ { "id": "616311", "database": "MIM", "url": "https://www.omim.org/entry/616311" } ] }, { "disease_id": "MONDO:0013063", "recommended_name": { "id": "MONDO:0013063", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013063", "name": "ventricular fibrillation, paroxysmal familial, 2", "description": "Any ventricular fibrillation in which the cause of the disease is a mutation in the DPP6 gene." }, "synonyms": [ { "id": "MONDO:0013063", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013063", "name": "DPP6 ventricular fibrillation (disease)", "description": "" }, { "id": "MONDO:0013063", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013063", "name": "ventricular fibrillation (disease) caused by mutation in DPP6", "description": "" }, { "id": "MONDO:0013063", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013063", "name": "ventricular fibrillation, paroxysmal familial, 2", "description": "" }, { "id": "MONDO:0013063", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013063", "name": "ventricular fibrillation, paroxysmal familial, type 2", "description": "" }, { "id": "MONDO:0013063", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013063", "name": "VF2", "description": "" }, { "id": "MIM:612956", "resource": "MIM", "url": "https://www.omim.org/entry/612956", "name": "Familial paroxysmal ventricular fibrillation 2", "description": "Familial paroxysmal ventricular fibrillation 2" } ], "evidence": [ { "id": "612956", "database": "MIM", "url": "https://www.omim.org/entry/612956" } ] } ], "snv": [ { "evidence": [ { "id": "rs761673050", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761673050" }, { "id": "rs761673050", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761673050" }, { "id": "rs761673050", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs761673050" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 122, "end_pos": 122, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DNS->NNS).", "chr_id": "7", "chr_pos": "154474944", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D122", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P42658", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P42658" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 124, "end_pos": 124, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (SLS->NLS).", "chr_id": "7", "chr_pos": "154474951", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S124", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs769205185", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769205185" }, { "id": "rs769205185", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769205185" }, { "id": "rs769205185", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs769205185" }, { "id": "rs1380941321", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1380941321" }, { "id": "rs1380941321", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1380941321" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 173, "end_pos": 173, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NTS->STS).", "chr_id": "7", "chr_pos": "154803949", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N173", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P42658", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P42658" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 175, "end_pos": 175, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "Y", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NTS->NTY).", "chr_id": "7", "chr_pos": "154540598", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S175", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, 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"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": 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"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", 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"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": 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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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"url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs777600559", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777600559" }, { "id": "rs777600559", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777600559" }, { "id": "rs777600559", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs777600559" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 634, "end_pos": 634, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SQS->NQS).", "chr_id": "7", "chr_pos": "154875923", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S634", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P42658", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P42658" } ], "glycoeffect": [], "start_pos": 64, "end_pos": 64, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "D", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (5).", "chr_id": "7", "chr_pos": "154053011", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "G64", "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid 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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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"http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal 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"MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] }, { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs370041738", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs370041738" }, { "id": "rs370041738", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs370041738" }, { "id": "rs370041738", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs370041738" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 813, "end_pos": 813, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NYS->SYS).", "chr_id": "7", "chr_pos": "154889517", "ref_nt": "G", "alt_nt": "null", 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"" }, { "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", 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"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 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"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 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"description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, 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cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P42658", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P42658" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", 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"description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", 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"MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", 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"MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", 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"https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "P42658", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P42658" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "P42658", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P42658" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "P42658", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P42658" } ], "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "P42658", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P42658" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "P42658", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P42658" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "P42658", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P42658" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "P42658", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P42658" } ], "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": 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"Organism-specific", "Gene Annotation" ] }, { "id": "1804", "url": "https://www.ncbi.nlm.nih.gov/gene/1804", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "3010", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=3010", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "P42658", "url": "https://www.ebi.ac.uk/intact/interactors/id:P42658*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR001375", "url": "https://www.ebi.ac.uk/interpro/entry/IPR001375", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR002469", "url": "https://www.ebi.ac.uk/interpro/entry/IPR002469", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR029058", "url": "https://www.ebi.ac.uk/interpro/entry/IPR029058", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:1804", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:1804", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "126141", "url": "http://www.omim.org/entry/126141", "database": "MIM", "categories": [ "Other" ] }, { "id": "612956", "url": "http://www.omim.org/entry/612956", "database": "MIM", "categories": [ "Other" ] }, { "id": "616311", "url": "http://www.omim.org/entry/616311", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_P42658", "url": "https://www.nextprot.org/entry/NX_P42658", "database": "neXtProt", "categories": [ "Organism-specific", "Protein" ] }, { "id": "P42658", "url": "https://oglcnac.org/atlas/detail/P42658", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "P42658", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P42658", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "MYGERYM", "url": "https://omabrowser.org/oma/group/MYGERYM/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "2876738at2759", "url": "http://www.orthodb.org/?query=2876738at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR11731", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11731", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR11731:SF20", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11731:SF20", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "1XFD", "url": "https://www.rcsb.org/structure/1XFD", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7E87", "url": "https://www.rcsb.org/structure/7E87", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7E89", "url": "https://www.rcsb.org/structure/7E89", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7E8B", "url": "https://www.rcsb.org/structure/7E8B", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7E8E", "url": "https://www.rcsb.org/structure/7E8E", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7E8G", "url": "https://www.rcsb.org/structure/7E8G", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7E8H", "url": "https://www.rcsb.org/structure/7E8H", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7UKG", "url": "https://www.rcsb.org/structure/7UKG", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF00326", "url": "http://pfam.xfam.org/family/PF00326", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF00930", "url": "http://pfam.xfam.org/family/PF00930", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "P42658", "url": "https://pharos.nih.gov/targets/P42658", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_P42658", "url": "http://purl.obolibrary.org/obo/PR_P42658", "database": "PRO", "categories": [ "Protein" ] }, { "id": "NP_570629", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_570629", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "A0A087WTG7", "url": "https://www.uniprot.org/uniprot/A0A087WTG7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A087WTG7-1", "url": "https://www.uniprot.org/uniprot/A0A087WTG7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A994J521", "url": "https://www.uniprot.org/uniprot/A0A994J521", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A994J521-1", "url": "https://www.uniprot.org/uniprot/A0A994J521-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A994J5Q6", "url": "https://www.uniprot.org/uniprot/A0A994J5Q6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A994J5Q6-1", "url": "https://www.uniprot.org/uniprot/A0A994J5Q6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A994J7K0", "url": "https://www.uniprot.org/uniprot/A0A994J7K0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A994J7K0-1", "url": "https://www.uniprot.org/uniprot/A0A994J7K0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PDL2", "url": "https://www.uniprot.org/uniprot/E9PDL2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PDL2-1", "url": "https://www.uniprot.org/uniprot/E9PDL2-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PF59", "url": "https://www.uniprot.org/uniprot/E9PF59", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PF59-1", "url": "https://www.uniprot.org/uniprot/E9PF59-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P42658", "url": "https://www.uniprot.org/uniprot/P42658", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P42658-1", "url": "https://www.uniprot.org/uniprot/P42658-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P42658-2", "url": "https://www.uniprot.org/uniprot/P42658-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q8IYG9", "url": "https://www.uniprot.org/uniprot/Q8IYG9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q8IYG9-1", "url": "https://www.uniprot.org/uniprot/Q8IYG9-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MASLYQRFTGKINTSRSFPAPPEASHLLGGQGPEEDGGAGAKPLGPRAQAAAPRERGGGGGGAGGRPRFQYQARSDGDEEDELVGSNPPQRNWKGIAIALLVILVICSLIVTSVILLTPAEDNSLSQKKKVTVEDLFSEDFKIHDPEAKWISDTEFIYREQKGTVRLWNVETNTSTVLIEGKKIESLRAIRYEISPDREYALFSYNVEPIYQHSYTGYYVLSKIPHGDPQSLDPPEVSNAKLQYAGWGPKGQQLIFIFENNIYYCAHVGKQAIRVVSTGKEGVIYNGLSDWLYEEEILKTHIAHWWSPDGTRLAYAAINDSRVPIMELPTYTGSIYPTVKPYHYPKAGSENPSISLHVIGLNGPTHDLEMMPPDDPRMREYYITMVKWATSTKVAVTWLNRAQNVSILTLCDATTGVCTKKHEDESEAWLHRQNEEPVFSKDGRKFFFIRAIPQGGRGKFYHITVSSSQPNSSNDNIQSITSGDWDVTKILAYDEKGNKIYFLSTEDLPRRRQLYSANTVGNFNRQCLSCDLVENCTYFSASFSHSMDFFLLKCEGPGVPMVTVHNTTDKKKMFDLETNEHVKKAINDRQMPKVEYRDIEIDDYNLPMQILKPATFTDTTHYPLLLVVDGTPGSQSVAEKFEVSWETVMVSSHGAVVVKCDGRGSGFQGTKLLHEVRRRLGLLEEKDQMEAVRTMLKEQYIDRTRVAVFGKDYGGYLSTYILPAKGENQGQTFTCGSALSPITDFKLYASAFSERYLGLHGLDNRAYEMTKVAHRVSALEEQQFLIIHPTADEKIHFQHTAELITQLIRGKANYSLQIYPDESHYFTSSSLKQHLYRSIINFFVECFRIQDKLLTVTAKEDEEED", "length": 865, "header": "sp|P42658-1|DPP6_HUMAN Isoform 1 of Dipeptidyl aminopeptidase-like protein 6 OS=Homo sapiens OX=9606 GN=DPP6 PE=1 SV=2 CANONICAL=P42658-1" }, "isoforms": [ { "isoform_ac": "A0A087WTG7-1", "url": "", "sequence": { "sequence": "MTTAKEPSASGKSVQQQEQELVGSNPPQRNWKGIAIALLVILVICSLIVTSVILLTPAEDNSLSQKKKVTVEDLFSEDFKIHDPEAKWISDTEFIYREQKGTVRLWNVETNTSTVLIEGKKIESLRAIRYEISPDREYALFSYNVEPMKKVKSRKLTLPHSKSCDSLAVSQACSPACHQGCFLHYITMSLPLHCLRDYVSAVNGYSTALPACHVQGGPVSDIPWRPWLEDCRRVPGGRTANGTRLRSHAPAALRQHCPLSYECGRCEASHLLTPGIMHSSYRQISGQRATE", "length": 291, "header": "tr|A0A087WTG7-1|DPP6_HUMAN Computationally mapped isoform of Dipeptidyl aminopeptidase-like protein 6 OS=Homo sapiens OX=9606 GN=DPP6 PE=1 SV=1 CANONICAL=P42658-1" }, "locus": { "chromosome": "7", "start_pos": 154588081, "end_pos": 154305495, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000619756.4", "url": "https://www.ensembl.org/id/ENST00000619756.4" }, { "database": "Ensembl Peptide", "id": "ENSP00000477855.1", "url": "https://www.ensembl.org/id/ENSP00000477855.1" } ] } }, { "isoform_ac": "A0A994J521-1", "url": "", "sequence": { "sequence": "MTTAKEPSASGKSVQQQEQELVGSNPPQRNWKGIAIALLVILVICSLIVTSVILLTPAEDNSLSQKKKVTVEDLFSEDFKIHDPEAKWISDTEFIYREQKGTVRLWNVETNTSTVLIEGKKIESLRAIRYEISPDREYALFSYNVEPGQ", "length": 149, "header": "tr|A0A994J521-1|DPP6_HUMAN Computationally mapped isoform of Dipeptidyl aminopeptidase-like protein 6 OS=Homo sapiens OX=9606 GN=DPP6 PE=1 SV=1 CANONICAL=P42658-1" }, "locus": { "chromosome": "7", "start_pos": 154587171, "end_pos": 154305495, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000496611.2", "url": "https://www.ensembl.org/id/ENST00000496611.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000516214.1", "url": "https://www.ensembl.org/id/ENSP00000516214.1" } ] } }, { "isoform_ac": "A0A994J5Q6-1", "url": "", "sequence": { "sequence": "MELPTYTGSIYPTVKPYHYPKAGSENPSISLHVIGLNGPTHDLEMMPPDDPRMREYYITMVKWATSTKVAVTWLNRAQNVSILTLCDATTGVCTKKHEDESEAWLHRQNEEPVFSKDGRKFFFIRAIPQGGRGKFYHITVSSSQPNSSNDNIQSITSGDWDVTKILAYDEKGNKIYFLSTEDLPRRRQLYSANTVGNFNRQCLSCDLVENCTYFSASFSHSMDFFLLKCEGPGVPMVTVHNTTDKKKMFDLETNEHVKKAINDRQMPKVEYRDIEIDDYNLPMQILKPATFTDTTHYPLLLVVDGTPGSQSVAEKFEVSWETVMVSSHGAVVVKCDGRGSGFQGTKLLHEVRRRLGLLEEKDQMEAVRTMLKEQYIDRTRVAVFGKDYGGYLSTYILPAKGENQGQTFTCGSALSPITDFKLYASAFSERYLGLHGLDNRAYEMTKVAHRVSALEEQQFLIIHPTADEKIHFQHTAELITQLIRGKANYSLQIYPDESHYFTSSSLKQHLYRSIINFFVECFRIQDKLLTVTAKEDEEED", "length": 540, "header": "tr|A0A994J5Q6-1|DPP6_HUMAN Computationally mapped isoform of Dipeptidyl aminopeptidase-like protein 6 OS=Homo sapiens OX=9606 GN=DPP6 PE=1 SV=1 CANONICAL=P42658-1" }, "locus": { "chromosome": "7", "start_pos": 154892477, "end_pos": 154769509, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000706151.1", "url": "https://www.ensembl.org/id/ENST00000706151.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000516234.1", "url": "https://www.ensembl.org/id/ENSP00000516234.1" } ] } }, { "isoform_ac": "A0A994J7K0-1", "url": "", "sequence": { "sequence": "MNQTAGVSNSVRCPPGKGHKELVGSNPPQRNWKGIAIALLVILVICSLIVTSVILLTPAEDNSLSQKKKVTVEDLFSEDFKIHDPEAKWISDTEFIYREQKGTVRLWNVETNTSTVLIEGKKIESLRAIRYEISPDREYALFSYNVEPIYQHSYTGYYVLSKIPHGDPQSLDPPEVSNAKLQYAGWGPKGQQLIFIFENNIYYCAHVGKQAIRVVSTGKEGVIYNGLSDWLYEEEILKTHIAHWWSPDGTRLAYAAINDSRVPIMELPTYTGSIYPTVKPYHYPKAGSENPSISLHVIGLNGPTHDLEMMPPDDPRMREYYITMVKWATSTKVAVTWLNRAQNVSILTLCDATTGVCTKKHEDESEAWLHRQNEEPVFSKDGRKFFFIRAIPQGGRGKFYHITVSSSQPNSSNDNIQSITSGDWDVTKILAYDEKGNKIYFLSTEDLPRRRQLYSANTVGNFNRQCLSCDLVENCTYFSASFSHSMDFFLLKCEGPGVPMVTVHNTTDKKKMFDLETNEHVKKAINDRQMPKVEYRDIEIDDYNLPMQILKPATFTDTTHYPLLLVVDGTPGSQSVAEKFEVSWETVMVSSHGAVVVKCDGRGSGFQGTKLLHEVRRRLGLLEEKDQMEAVRTMLKEQYIDRTRVAVFGKDYGGYLSTYILPAKGENQGQTFTCGSALSPITDFKLYASAFSERYLGLHGLDNRAYEMTKVAHRVSALEEQQFLIIHPTADEKIHFQHTAELITQLIRGKANYSLQIYPDESHYFTSSSLKQHLYRSIINFFVECFRIQDKLLTVTAKEDEEED", "length": 804, "header": "tr|A0A994J7K0-1|DPP6_HUMAN Computationally mapped isoform of Dipeptidyl aminopeptidase-like protein 6 OS=Homo sapiens OX=9606 GN=DPP6 PE=1 SV=1 CANONICAL=P42658-1" }, "locus": { "chromosome": "7", "start_pos": 154892477, "end_pos": 153748949, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000706130.1", "url": "https://www.ensembl.org/id/ENST00000706130.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000516215.1", "url": "https://www.ensembl.org/id/ENSP00000516215.1" } ] } }, { "isoform_ac": "E9PDL2-1", "url": "", "sequence": { "sequence": "MTTAKEPSASGKSVQQQEQELVGSNPPQRNWKGIAIALLVILVICSLIVTSVILLTPAEDNSLSQKKKVTVEDLFSEDFKIHDPEAKWISDTEFIYREQKGTVRLWNVETNTSTVLIEGKKIESLRAIRYEISPDREYALFSYNVEPIFIFENNIYYCAHVGKQAIRVVSTGKEGVIYNGLSDWLYEEEILKTHIAHWWSPDGTRLAYAAINDSRVPIMELPTYTGSIYPTVKPYHYPKAGSENPSISLHVIGLNGPTHDLEMMPPDDPRMREYYITMVKWATSTKVAVTWLNRAQNVSILTLCDATTGVCTKKHEDESEAWLHRQNEEPVFSKDGRKFFFIRAIPQGGRGKFYHITVSSSQPNSSNDNIQSITSGDWDVTKILAYDEKGNKIYFLSTEDLPRRRQLYSANTVGNFNRQCLSCDLVENCTYFSASFSHSMDFFLLKCEGPGVPMVTVHNTTDKKKMFDLETNEHVKKAINDRQMPKVEYRDIEIDDYNLPMQILKPATFTDTTHYPLLLVVDGTPGSQSVAEKFEVSWETVMVSSHGAVVVKCDGRGSGFQGTKLLHEVRRRLGLLEEKDQMEAVRTMLKEQYIDRTRVAVFGKDYGGYLSTYILPAKGENQGQTFTCGSALSPITDFKLYASAFSERYLGLHGLDNRAYEMTKVAHRVSALEEQQFLIIHPTADEKIHFQHTAELITQLIRGKANYSLQIYPDESHYFTSSSLKQHLYRSIINFFVECFRIQDKLLTVTAKEDEEED", "length": 758, "header": "tr|E9PDL2-1|DPP6_HUMAN Computationally mapped isoform of Dipeptidyl aminopeptidase-like protein 6 OS=Homo sapiens OX=9606 GN=DPP6 PE=1 SV=1 CANONICAL=P42658-1" }, "locus": { "chromosome": "7", "start_pos": 154892477, "end_pos": 154305495, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000427557.1", "url": "https://www.ensembl.org/id/ENST00000427557.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000397303.1", "url": "https://www.ensembl.org/id/ENSP00000397303.1" } ] } }, { "isoform_ac": "E9PF59-1", "url": "", "sequence": { "sequence": "MKEKAMIKTAKMQGNVMELVGSNPPQRNWKGIAIALLVILVICSLIVTSVILLTPAEDNSLSQKKKVTVEDLFSEDFKIHDPEAKWISDTEFIYREQKGTVRLWNVETNTSTVLIEGKKIESLRAIRYEISPDREYALFSYNVEPIYQHSYTGYYVLSKIPHGDPQSLDPPEVSNAKLQYAGWGPKGQQLIFIFENNIYYCAHVGKQAIRVVSTGKEGVIYNGLSDWLYEEEILKTHIAHWWSPDGTRLAYAAINDSRVPIMELPTYTGSIYPTVKPYHYPKAGSENPSISLHVIGLNGPTHDLEMMPPDDPRMREYYITMVKWATSTKVAVTWLNRAQNVSILTLCDATTGVCTKKHEDESEAWLHRQNEEPVFSKDGRKFFFIRAIPQGGRGKFYHITVSSSQPNSSNDNIQSITSGDWDVTKILAYDEKGNKIYFLSTEDLPRRRQLYSANTVGNFNRQCLSCDLVENCTYFSASFSHSMDFFLLKCEGPGVPMVTVHNTTDKKKMFDLETNEHVKKAINDRQMPKVEYRDIEIDDYNLPMQILKPATFTDTTHYPLLLVVDGTPGSQSVAEKFEVSWETVMVSSHGAVVVKCDGRGSGFQGTKLLHEVRRRLGLLEEKDQMEAVRTMLKEQYIDRTRVAVFGKDYGGYLSTYILPAKGENQGQTFTCGSALSPITDFKLYASAFSERYLGLHGLDNRAYEMTKVAHRVSALEEQQFLIIHPTADEKIHFQHTAELITQLIRGKANYSLQIYPDESHYFTSSSLKQHLYRSIINFFVECFRIQDKLLTVTAKEDEEED", "length": 801, "header": "tr|E9PF59-1|E9PF59_HUMAN Computationally mapped isoform of Dipeptidyl peptidase like 6 OS=Homo sapiens OX=9606 GN=DPP6 PE=1 SV=1 CANONICAL=P42658-1" }, "locus": { "chromosome": "7", "start_pos": 154892477, "end_pos": 153887684, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000404039.5", "url": "https://www.ensembl.org/id/ENST00000404039.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000385578.1", "url": "https://www.ensembl.org/id/ENSP00000385578.1" } ] } }, { "isoform_ac": "P42658-1", "url": "", "sequence": { "sequence": "MASLYQRFTGKINTSRSFPAPPEASHLLGGQGPEEDGGAGAKPLGPRAQAAAPRERGGGGGGAGGRPRFQYQARSDGDEEDELVGSNPPQRNWKGIAIALLVILVICSLIVTSVILLTPAEDNSLSQKKKVTVEDLFSEDFKIHDPEAKWISDTEFIYREQKGTVRLWNVETNTSTVLIEGKKIESLRAIRYEISPDREYALFSYNVEPIYQHSYTGYYVLSKIPHGDPQSLDPPEVSNAKLQYAGWGPKGQQLIFIFENNIYYCAHVGKQAIRVVSTGKEGVIYNGLSDWLYEEEILKTHIAHWWSPDGTRLAYAAINDSRVPIMELPTYTGSIYPTVKPYHYPKAGSENPSISLHVIGLNGPTHDLEMMPPDDPRMREYYITMVKWATSTKVAVTWLNRAQNVSILTLCDATTGVCTKKHEDESEAWLHRQNEEPVFSKDGRKFFFIRAIPQGGRGKFYHITVSSSQPNSSNDNIQSITSGDWDVTKILAYDEKGNKIYFLSTEDLPRRRQLYSANTVGNFNRQCLSCDLVENCTYFSASFSHSMDFFLLKCEGPGVPMVTVHNTTDKKKMFDLETNEHVKKAINDRQMPKVEYRDIEIDDYNLPMQILKPATFTDTTHYPLLLVVDGTPGSQSVAEKFEVSWETVMVSSHGAVVVKCDGRGSGFQGTKLLHEVRRRLGLLEEKDQMEAVRTMLKEQYIDRTRVAVFGKDYGGYLSTYILPAKGENQGQTFTCGSALSPITDFKLYASAFSERYLGLHGLDNRAYEMTKVAHRVSALEEQQFLIIHPTADEKIHFQHTAELITQLIRGKANYSLQIYPDESHYFTSSSLKQHLYRSIINFFVECFRIQDKLLTVTAKEDEEED", "length": 865, "header": "sp|P42658-1|DPP6_HUMAN Isoform 1 of Dipeptidyl aminopeptidase-like protein 6 OS=Homo sapiens OX=9606 GN=DPP6 PE=1 SV=2 CANONICAL=P42658-1" }, "locus": { "chromosome": "7", "start_pos": 154892477, "end_pos": 154052821, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000377770.8", "url": "https://www.ensembl.org/id/ENST00000377770.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000367001.3", "url": "https://www.ensembl.org/id/ENSP00000367001.3" } ] } }, { "isoform_ac": "P42658-2", "url": "", "sequence": { "sequence": "MTTAKEPSASGKSVQQQEQELVGSNPPQRNWKGIAIALLVILVICSLIVTSVILLTPAEDNSLSQKKKVTVEDLFSEDFKIHDPEAKWISDTEFIYREQKGTVRLWNVETNTSTVLIEGKKIESLRAIRYEISPDREYALFSYNVEPIYQHSYTGYYVLSKIPHGDPQSLDPPEVSNAKLQYAGWGPKGQQLIFIFENNIYYCAHVGKQAIRVVSTGKEGVIYNGLSDWLYEEEILKTHIAHWWSPDGTRLAYAAINDSRVPIMELPTYTGSIYPTVKPYHYPKAGSENPSISLHVIGLNGPTHDLEMMPPDDPRMREYYITMVKWATSTKVAVTWLNRAQNVSILTLCDATTGVCTKKHEDESEAWLHRQNEEPVFSKDGRKFFFIRAIPQGGRGKFYHITVSSSQPNSSNDNIQSITSGDWDVTKILAYDEKGNKIYFLSTEDLPRRRQLYSANTVGNFNRQCLSCDLVENCTYFSASFSHSMDFFLLKCEGPGVPMVTVHNTTDKKKMFDLETNEHVKKAINDRQMPKVEYRDIEIDDYNLPMQILKPATFTDTTHYPLLLVVDGTPGSQSVAEKFEVSWETVMVSSHGAVVVKCDGRGSGFQGTKLLHEVRRRLGLLEEKDQMEAVRTMLKEQYIDRTRVAVFGKDYGGYLSTYILPAKGENQGQTFTCGSALSPITDFKLYASAFSERYLGLHGLDNRAYEMTKVAHRVSALEEQQFLIIHPTADEKIHFQHTAELITQLIRGKANYSLQIYPDESHYFTSSSLKQHLYRSIINFFVECFRIQDKLLTVTAKEDEEED", "length": 803, "header": "sp|P42658-2|DPP6_HUMAN Isoform 2 of Dipeptidyl aminopeptidase-like protein 6 OS=Homo sapiens OX=9606 GN=DPP6 PE=1 SV=2 CANONICAL=P42658-1" }, "locus": { "chromosome": "7", "start_pos": 154892477, "end_pos": 154305495, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000332007.7", "url": "https://www.ensembl.org/id/ENST00000332007.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000328226.3", "url": "https://www.ensembl.org/id/ENSP00000328226.3" } ] } }, { "isoform_ac": "Q8IYG9-1", "url": "", "sequence": { "sequence": "MASLYQRFTGKINTSRSFPAPPEASHLLGGQGPEEDGGAGAKPLGPRAQAAAPRERGGGGGGAGGRPRFQYQARSDGDEEDELVGSNPPQRNWKGIAIALLVILVICSLIVTSVILLTPAEDNSLSQKKKVTVEDLFSEDFKIHDPEAKWISDTEFIYREQKGTVRLWNVETNTSTVLIEGKKIESLRAIRYEISPDREYALFSYNVEPMKKVKSRKLTLPHSKSCDSLAVSQACSPACHQGCFLHYITMSLPLHCLRDYVSAVNGYSTALPACHVQGGPVSDIPWRPWLEDCRRVPGGRTANGTRLRSHAPAALRQHCPLSYECGRCEASHLLTPGIMHSSYRQISGQRATE", "length": 353, "header": "tr|Q8IYG9-1|DPP6_HUMAN Computationally mapped isoform of Dipeptidyl aminopeptidase-like protein 6 OS=Homo sapiens OX=9606 GN=DPP6 PE=1 SV=1 CANONICAL=P42658-1" }, "locus": { "chromosome": "7", "start_pos": 154588081, "end_pos": 154052821, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000406326.5", "url": "https://www.ensembl.org/id/ENST00000406326.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000384393.1", "url": "https://www.ensembl.org/id/ENSP00000384393.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 173, "start_aa": "Asn", "end_pos": 173, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn173", "evidence": [ { "id": "P42658", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P42658#ptm_processing" }, { "id": "15476821", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/15476821" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 319, "start_aa": "Asn", "end_pos": 319, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn319", "evidence": [ { "id": "P42658", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P42658#ptm_processing" }, { "id": "15476821", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/15476821" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 404, "start_aa": "Asn", "end_pos": 404, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn404", "evidence": [ { "id": "P42658", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P42658#ptm_processing" }, { "id": "15476821", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/15476821" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 471, "start_aa": "Asn", "end_pos": 471, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn471", "evidence": [ { "id": "P42658", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P42658#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 535, "start_aa": "Asn", "end_pos": 535, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn535", "evidence": [ { "id": "P42658", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P42658#ptm_processing" }, { "id": "15476821", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/15476821" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 566, "start_aa": "Asn", "end_pos": 566, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn566", "evidence": [ { "id": "P42658", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P42658#ptm_processing" }, { "id": "15476821", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/15476821" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 813, "start_aa": "Asn", "end_pos": 813, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn813", "evidence": [ { "id": "P42658", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P42658#ptm_processing" }, { "id": "15476821", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/15476821" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 815, "start_aa": "Ser", "end_pos": 815, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser815", "evidence": [ { "id": "P42658", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P42658" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "P42658", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P42658" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported", "glycoprotein_predicted", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Modulation of Kv4.2 channel expression and gating by dipeptidyl peptidase 10 (DPP10).", "journal": "Biophys. J.", "date": "2004", "authors": "Jerng HH, Qian Y, Pfaffinger PJ", "evidence": [ { "database": "UniProtKB", "id": "P42658", "url": "https://www.uniprot.org/uniprot/P42658" } ], "reference": [ { "type": "PubMed", "id": "15454437", "url": "https://glygen.org/publication/PubMed/15454437" } ] }, { "title": "Structure of a human A-type potassium channel interacting protein DPPX, a member of the dipeptidyl aminopeptidase family.", "journal": "Journal of molecular biology", "date": "2004", "authors": "Strop P, Bankovich AJ, Hansen KC, Garcia KC, Brunger AT", "evidence": [ { "database": "UniProtKB", "id": "P42658", "url": "https://www.uniprot.org/uniprot/P42658#ptm_processing" }, { "database": "UniProtKB", "id": "P42658", "url": "https://www.uniprot.org/uniprot/P42658" } ], "reference": [ { "type": "PubMed", "id": "15476821", "url": "https://glygen.org/publication/PubMed/15476821" } ] }, { "title": "Differential expression of two distinct forms of mRNA encoding members of a dipeptidyl aminopeptidase family.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1992", "authors": "Wada K, Yokotani N, Hunter C, Doi K, Wenthold RJ, Shimasaki S", "evidence": [ { "database": "RefSeq", "id": "NP_001277182", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001277182" }, { "database": "RefSeq", "id": "NP_001277181", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001277181" }, { "database": "RefSeq", "id": "NP_001034439", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034439" }, { "database": "RefSeq", "id": "NP_570629", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_570629" } ], "reference": [ { "type": "PubMed", "id": "1729689", "url": "https://glygen.org/publication/PubMed/1729689" } ] }, { "title": "Genetic variation in DPP6 is associated with susceptibility to amyotrophic lateral sclerosis.", "journal": "Nat. Genet.", "date": "2008", "authors": "Baas F., Van Broeckhoven C., Traynor B.J., Sleegers K., Wijmenga C., Andersen P.M., Schelhaas H.J., Ophoff R.A., Schymick J.C., Birve A., Blauw H.M., Franke L., Lemmens R., Robberecht W., Saris C.G.J., Van den Bosch L., Veldink J.H., Wokke J.H.J., de Jong S.W., de Jong V., van Es M.A., van Vught P.W.J., van den Berg L.H., van't Slot R.", "evidence": [ { "database": "UniProtKB", "id": "P42658", "url": "https://www.uniprot.org/uniprot/P42658" } ], "reference": [ { "type": "PubMed", "id": "18084291", "url": "https://glygen.org/publication/PubMed/18084291" } ] }, { "title": "Genetics. The elusive ALS genes.", "journal": "Science", "date": "2008", "authors": "Garber K.", "evidence": [ { "database": "UniProtKB", "id": "P42658", "url": "https://www.uniprot.org/uniprot/P42658" } ], "reference": [ { "type": "PubMed", "id": "18174402", "url": "https://glygen.org/publication/PubMed/18174402" } ] }, { "title": "I SA channel complexes include four subunits each of DPP6 and Kv4.2.", "journal": "J. Biol. Chem.", "date": "2008", "authors": "Goldstein S.A., Soh H.", "evidence": [ { "database": "UniProtKB", "id": "P42658", "url": "https://www.uniprot.org/uniprot/P42658" } ], "reference": [ { "type": "PubMed", "id": "18364354", "url": "https://glygen.org/publication/PubMed/18364354" } ] }, { "title": "Haplotype-sharing analysis implicates chromosome 7q36 harboring DPP6 in familial idiopathic ventricular fibrillation.", "journal": "Am. J. Hum. Genet.", "date": "2009", "authors": "Loh P., Alders M., Mannens M.M., Beekman L., Bezzina C.R., Wilde A.A., Christiaans I., Demolombe S., Koch K.T., Koopmann T.T., Postema P.G., Tanck M.W., Zeppenfeld K.", "evidence": [ { "database": "UniProtKB", "id": "P42658", "url": "https://www.uniprot.org/uniprot/P42658" } ], "reference": [ { "type": "PubMed", "id": "19285295", "url": "https://glygen.org/publication/PubMed/19285295" } ] }, { "title": "Convergent modulation of Kv4.2 channel alpha subunits by structurally distinct DPPX and KChIP auxiliary subunits.", "journal": "Biochemistry", "date": "2009", "authors": "Seikel E, Trimmer JS", "evidence": [ { "database": "UniProtKB", "id": "P42658", "url": "https://www.uniprot.org/uniprot/P42658" } ], "reference": [ { "type": "PubMed", "id": "19441798", "url": "https://glygen.org/publication/PubMed/19441798" } ] }, { "title": "Loss-of-function variation in the DPP6 gene is associated with autosomal dominant microcephaly and mental retardation.", "journal": "Eur. J. Med. Genet.", "date": "2013", "authors": "Liao C, Fu F, Li R, Yang WQ, Liao HY, Yan JR, Li J, Li SY, Yang X, Li DZ", "evidence": [ { "database": "UniProtKB", "id": "P42658", "url": "https://www.uniprot.org/uniprot/P42658" } ], "reference": [ { "type": "PubMed", "id": "23832105", "url": "https://glygen.org/publication/PubMed/23832105" } ] }, { "title": "Mapping and Quantification of Over 2000 O-linked Glycopeptides in Activated Human T Cells with Isotope-Targeted Glycoproteomics (Isotag).", "journal": "Molecular & cellular proteomics : MCP", "date": "2018", "authors": "Woo CM, Lund PJ, Huang AC, Davis MM, Bertozzi CR, Pitteri SJ", "evidence": [ { "database": "O-GlcNAc Database", "id": "P42658", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P42658" }, { "database": "O-GlcNAc Atlas", "id": "P42658", "url": "https://oglcnac.org/atlas/detail/P42658" } ], "reference": [ { "type": "PubMed", "id": "29351928", "url": "https://glygen.org/publication/PubMed/29351928" } ] }, { "title": "A novel mutation of dipeptidyl aminopeptidase-like protein-6 in a family with suspicious idiopathic ventricular fibrillation.", "journal": "QJM : monthly journal of the Association of Physicians", "date": "2018", "authors": "Ding DB, Fan LL, Xiao Z, Huang H, Chen YQ, Guo S, Liu ZH, Xiang R", "evidence": [ { "database": "RefSeq", "id": "NP_001277181", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001277181" }, { "database": "RefSeq", "id": "NP_001034439", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034439" }, { "database": "RefSeq", "id": "NP_570629", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_570629" }, { "database": "RefSeq", "id": "NP_001277182", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001277182" } ], "reference": [ { "type": "PubMed", "id": "29474731", "url": "https://glygen.org/publication/PubMed/29474731" } ] }, { "title": "Loss of DPP6 in neurodegenerative dementia: a genetic player in the dysfunction of neuronal excitability.", "journal": "Acta neuropathologica", "date": "2019", "authors": "Cacace R, Heeman B, Van Mossevelde S, De Roeck A, Hoogmartens J, De Rijk P, Gossye H, De Vos K, De Coster W, Strazisar M, De Baets G, Schymkowitz J, Rousseau F, Geerts N, De Pooter T, Peeters K, Sieben A, Martin JJ, Engelborghs S, Salmon E, Santens P, Vandenberghe R, Cras P, P De Deyn P, C van Swieten J, M van Duijn C, van der Zee J, Sleegers K, Van Broeckhoven C", "evidence": [ { "database": "RefSeq", "id": "NP_001277181", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001277181" }, { "database": "RefSeq", "id": "NP_570629", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_570629" }, { "database": "RefSeq", "id": "NP_001277182", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001277182" }, { "database": "RefSeq", "id": "NP_001034439", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034439" } ], "reference": [ { "type": "PubMed", "id": "30874922", "url": "https://glygen.org/publication/PubMed/30874922" } ] }, { "title": "A novel DPP6 variant in Chinese families causes early repolarization syndrome.", "journal": "Experimental cell research", "date": "2019", "authors": "Ji CC, Yao FJ, Cheng YJ, Yao H, Fan J, Chen XM, Zheng ZH, Dong YG, Wu SH", "evidence": [ { "database": "RefSeq", "id": "NP_001277181", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001277181" }, { "database": "RefSeq", "id": "NP_001277182", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001277182" }, { "database": "RefSeq", "id": "NP_570629", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_570629" }, { "database": "RefSeq", "id": "NP_001034439", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034439" } ], "reference": [ { "type": "PubMed", "id": "31476289", "url": "https://glygen.org/publication/PubMed/31476289" } ] }, { "title": "Dipeptidyl peptidase like 6 promoter methylation is a potential prognostic biomarker for pancreatic ductal adenocarcinoma.", "journal": "Bioscience reports", "date": "2020", "authors": "Zhao X, Cao D, Ren Z, Liu Z, Lv S, Zhu J, Li L, Lang R, He Q", "evidence": [ { "database": "RefSeq", "id": "NP_001277182", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001277182" }, { "database": "RefSeq", "id": "NP_001034439", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034439" }, { "database": "RefSeq", "id": "NP_570629", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_570629" }, { "database": "RefSeq", "id": "NP_001277181", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001277181" } ], "reference": [ { "type": "PubMed", "id": "32701143", "url": "https://glygen.org/publication/PubMed/32701143" } ] }, { "title": "Neuronal Differentiation of Induced Pluripotent Stem Cells from Schizophrenia Patients in Two-Dimensional and in Three-Dimensional Cultures Reveals Increased Expression of the Kv4.2 Subunit DPP6 That Contributes to Decreased Neuronal Activity.", "journal": "Stem cells and development", "date": "2020", "authors": "Naujock M, Speidel A, Fischer S, Kizner V, Dorner-Ciossek C, Gillardon F", "evidence": [ { "database": "RefSeq", "id": "NP_001034439", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034439" }, { "database": "RefSeq", "id": "NP_570629", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_570629" }, { "database": "RefSeq", "id": "NP_001277181", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001277181" }, { "database": "RefSeq", "id": "NP_001277182", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001277182" } ], "reference": [ { "type": "PubMed", "id": "33143549", "url": "https://glygen.org/publication/PubMed/33143549" } ] }, { "title": "Non-conservation of a catalytic residue in a dipeptidyl aminopeptidase IV-related protein encoded by a gene on human chromosome 7.", "journal": "Hum. Mol. Genet.", "date": "1993", "authors": "Yokotani N, Doi K, Wenthold RJ, Wada K", "evidence": [ { "database": "UniProtKB", "id": "P42658", "url": "https://www.uniprot.org/uniprot/P42658" } ], "reference": [ { "type": "PubMed", "id": "8103397", "url": "https://glygen.org/publication/PubMed/8103397" } ] } ], "pathway": [ { "id": "hsa:1804", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:1804", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "P46101-1", "protein_name": "Dipeptidyl aminopeptidase-like protein 6", "gene_name": "Dpp6", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MASLYQRFTGKINTSRSFPAPPEASHLLGGQGPEEDAGSKPLGPQAQAVAPRERGGAGGRPRFQYQARSDCDEEDELVGSNPPQRNWKGIAIALLVILVICSLIVTSVILLTPAEDTSLSQKKKVTVEDLFSEDFKIHDPEAKWISDKEFIYRERKGSVILRNVETNNSTVLIEGKKIESLRAIRYEISPDKEYALFSYNVEPVYQHSHTGYYVLSKIPHGDPQSLDPPEVSNAKLQYAGWGPKGQQLIFIFENNIYYCAHVGKQAIRVVSTGKEGVIYNGLSDWLYEEEILKSHIAHWWSPDGTRLAYATINDSRVPLMELPTYTGSVYPTVKPYHYPKAGSENPSISLHVIGLNGPTHDLEMMPPDDPRMREYYITMVKWATSTKVAVTWLNRAQNVSILTLCDATTGVCTKKHEDESEAWLHRQNEEPVFSKDGRKFFFVRAIPQGGRGKFYHITVSSSQPNSSNDNIQSITSGDWDVTEILTYDEKRNKLYFLSTEDLPRRRHLYSANTVDDFNRQCLSCDLVENCTYVSASFSHNMDFFLLKCEGPGVPTVTVHNTTDKRRMFDLEANEQVQKAIYDRQMPKIEYRKIEVEDYSLPMQILKPATFTDTAHYPLLLVVDGTPGSQSVSERFEVTWETVLVSSHGAVVVKCDGRGSGFQGTKLLHEVRRRLGFLEEKDQMEAVRTMLKEQYIDKTRVAVFGKDYGGYLSTYILPAKGENQGQTFTCGSALSPITDFKLYASAFSERYLGLHGLDNRAYEMTKLAHRVSALEDQQFLIIHATADEKIHFQHTAELITQLIKGKANYSLQIYPDESHYFHSVALKQHLYRSIIGFFVECFRIQDKLPTATAKEDEEED", "length": 859 }, "evidence": [ { "id": "45230083", "url": "http://www.informatics.jax.org/homology/45230083", "database": "MGI" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q9Z218-1", "protein_name": "Dipeptidyl aminopeptidase-like protein 6", "gene_name": "Dpp6", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MNQTAGASNNVRCPPGKGHKELVGSNPPQRNWKGIAIALLVILVICSLIVTSVILLTPAEDTSLSQKKKVTVEDLFSEDFKIHDPEAKWISNKEFIYRERKGSVILRNVETNNSTVLIEGKKIESLRAIRYEISPDKEYVLFSYNVEPVYQHSHTGYYVLSKIPHGDPQSLDPPEVSNAKLQYAGWGPKGQQLIFIFENNIYYCAHVGKQAIRVVSTGKEGVIYNGLSDWLYEEEILKSHIAHWWSPDGTRLAYATINDSRVPLMELPTYTGSVYPTVKPYHYPKAGSENPSISLHVIGLNGPTHDLEMMPPDDPRMREYYITMVKWATSTKVAVTWLNRAQNVSILTLCDATTGVCTKKHEDESEAWLHRQNEEPVFSKDGRKFFFVRAIPQGGRGKFYHITVSSSQPNSSNDNIQSITSGDWDVTKILSYDEKRNKIYFLSTEDLPRRRHLYSANTVDDFNRQCLSCDLVENCTYVSASFSHNMDFFLLKCEGPGVPTVTVHNTTDKRRMFDLEANEEVQKAINDRQMPKIEYRKIEVEDYSLPMQILKPATFTDTAHYPLLLVVDGTPGSQSVTERFEVTWETVLVSSHGAVVVKCDGRGSGFQGTKLLQEVRRRLGFLEEKDQMEAVRTMLKEQYIDKTRVAVFGKDYGGYLSTYILPAKGENQGQTFTCGSALSPITDFKLYASAFSERYLGLHGLDNRAYEMTKLAHRVSALEDQQFLIIHATADEKIHFQHTAELITQLIKGKANYSLQIYPDESHYFHSVALKQHLSRSIIGFFVECFRVQDKLPTATAKEEEEED", "length": 804 }, "evidence": [ { "id": "45230083", "url": "http://www.informatics.jax.org/homology/45230083", "database": "MGI" }, { "id": "P42658", "url": "https://omabrowser.org/oma/group/P42658/", "database": "OMA" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Biological Process", "total": 3, "go_terms": [ { "name": "proteolysis", "id": "GO:0006508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006508", "evidence": [ { "database": "UniProtKB", "id": "P42658", "url": "https://www.uniprot.org/uniprot/P42658" } ], "pmid": "" }, { "name": "regulation of potassium ion transmembrane transport", "id": "GO:1901379", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901379", "evidence": [ { "database": "UniProtKB", "id": "P42658", "url": "https://www.uniprot.org/uniprot/P42658" } ], "pmid": "" }, { "name": "protein localization to plasma membrane", "id": "GO:0072659", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072659", "evidence": [ { "database": "UniProtKB", "id": "P42658", "url": "https://www.uniprot.org/uniprot/P42658" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 3, "go_terms": [ { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P42658", "url": "https://www.uniprot.org/uniprot/P42658" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P42658", "url": "https://www.uniprot.org/uniprot/P42658" } ], "pmid": "" }, { "name": "voltage-gated potassium channel complex", "id": "GO:0008076", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008076", "evidence": [ { "database": "UniProtKB", "id": "P42658", "url": "https://www.uniprot.org/uniprot/P42658" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 2, "go_terms": [ { "name": "serine-type peptidase activity", "id": "GO:0008236", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008236", "evidence": [ { "database": "UniProtKB", "id": "P42658", "url": "https://www.uniprot.org/uniprot/P42658" } ], "pmid": "" }, { "name": "potassium channel regulator activity", "id": "GO:0015459", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015459", "evidence": [ { "database": "UniProtKB", "id": "P42658", "url": "https://www.uniprot.org/uniprot/P42658" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 13, "end_pos": 15, "annotation": "n_glycosylation_sequon" }, { "start_pos": 173, "end_pos": 175, "annotation": "n_glycosylation_sequon" }, { "start_pos": 319, "end_pos": 321, "annotation": "n_glycosylation_sequon" }, { "start_pos": 404, "end_pos": 406, "annotation": "n_glycosylation_sequon" }, { "start_pos": 471, "end_pos": 473, "annotation": "n_glycosylation_sequon" }, { "start_pos": 535, "end_pos": 537, "annotation": "n_glycosylation_sequon" }, { "start_pos": 566, "end_pos": 568, "annotation": "n_glycosylation_sequon" }, { "start_pos": 813, "end_pos": 815, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [ { "annotation": "N-glycosylated.", "evidence": [ { "database": "UniProtKB", "id": "P42658", "url": "https://www.uniprot.org/uniprot/P42658" }, { "database": "PubMed", "id": "15454437", "url": "https://glygen.org/publication/PubMed/15454437" } ] } ], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 8 }, { "field": "total_sites", "count": 8 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 7 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 6 }, { "field": "total_sites", "count": 6 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 6 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 35 }, { "field": "total_sites", "count": 32 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 15 }, { "field": "total_sites", "count": 15 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 20 }, { "field": "total_sites", "count": 19 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", 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