{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["9(1)"],"submitter":["M Z"],"pubmed_abstract":["<h4>Background</h4>Progressive familial intrahepatic cholestases (PFIC) are a spectrum of autosomal progressive liver diseases developing to end-stage liver disease. ATP8B1 deficiency caused by mutations in ATP8B1 gene encoding a P-type ATPase leads to PFIC1. The gene for PFIC1 has been mapped on a 19-cM region of 18q21-q22, and a gene defect in ATP8B1 can cause deregulations in bile salt transporters through decreased expression and/or activity of FXR. Point mutations are the most common, with the majority being missense or nonsense mutations. In addition, approximately 15% of disease-causing ATP8B1 mutations are annotated as splicing disrupting alteration given that they are located at exon-intron borders.<h4>Objective</h4>Here, we describe the hidden layer of computational biology infor"],"journal":["Journal of biomedical physics & engineering"],"pagination":["105-120"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC6409373"],"repository":["biostudies-literature"],"pubmed_title":["In-silico Evaluation of Rare Codons and their Positions in the Structure of ATP8b1 Gene."],"pmcid":["PMC6409373"],"pubmed_authors":["S M D","M Z","M R F","F E","S M B T","M M"],"additional_accession":[]},"is_claimable":false,"name":"In-silico Evaluation of Rare Codons and their Positions in the Structure of ATP8b1 Gene.","description":"<h4>Background</h4>Progressive familial intrahepatic cholestases (PFIC) are a spectrum of autosomal progressive liver diseases developing to end-stage liver disease. ATP8B1 deficiency caused by mutations in ATP8B1 gene encoding a P-type ATPase leads to PFIC1. The gene for PFIC1 has been mapped on a 19-cM region of 18q21-q22, and a gene defect in ATP8B1 can cause deregulations in bile salt transporters through decreased expression and/or activity of FXR. Point mutations are the most common, with the majority being missense or nonsense mutations. In addition, approximately 15% of disease-causing ATP8B1 mutations are annotated as splicing disrupting alteration given that they are located at exon-intron borders.<h4>Objective</h4>Here, we describe the hidden layer of computational biology infor","dates":{"release":"2019-01-01T00:00:00Z","publication":"2019 Feb","modification":"2025-04-18T23:45:46.201Z","creation":"2019-06-06T20:58:40Z"},"accession":"S-EPMC6409373","cross_references":{"pubmed":["30881940"]}}