biostudies-literatureUnknown9(1)M Z<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 inforJournal of biomedical physics & engineering105-120https://www.ebi.ac.uk/biostudies/studies/S-EPMC6409373biostudies-literatureIn-silico Evaluation of Rare Codons and their Positions in the Structure of ATP8b1 Gene.PMC6409373S M DM ZM R FF ES M B TM MfalseIn-silico Evaluation of Rare Codons and their Positions in the Structure of ATP8b1 Gene.<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 infor2019-01-01T00:00:00Z2019 Feb2025-04-18T23:45:46.201Z2019-06-06T20:58:40ZS-EPMC640937330881940