ArticleGenome medicine2016
Exonic enhancers: proceed with caution in exome and genome sequencing studies.
Article in Genome medicine, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed.
- The G→C rs590352 in the Protein-Coding Region of ATXN7L3B Gene Upregulates Its Expression In Vivo.Biochemical genetics · 2026Article
- Functional and computational interrogation of juvenile idiopathic arthritis risk loci in CD4+ T cells.HGG advances · 2026Article
- Long-term isolation and archaic introgression shape functional genetic variation in Near Oceania.Science (New York, N.Y.) · 2026Article
- The exonic SNP rs11676272-C risk allele mediates diet-induced obesity and reduces enhancer activation.EMBO reports · 2026Article
- Article
- CRM-TI: an enhanced pipeline for computationally assigning the target genes of cis-regulatory modules by considering comprehensive long-range regulation mechanisms.BioData mining · 2026Article
- Exonic enhancers are a widespread class of dual-function regulatory elements.Nature communications · 2026Article
- Promoter mutagenesis and a massively parallel reporter screen of thebioRxiv : the preprint server for biology · 2026Article
- Functional and Computational Interrogation of the Juvenile Idiopathic Arthritis Risk Loci Identifies Candidate Causal SNPs and Target Genes in CD4+ T cells.medRxiv : the preprint server for health sciences · 2025Article
- Introducing the EpGEpigenomes · 2025Article
- Heterozygous variants of uncertain significance inAME case reports · 2025Article
- A systematic strategy for identifying causal single nucleotide polymorphisms and their target genes on Juvenile arthritis risk haplotypes.BMC medical genomics · 2024Article
- Integrative regulation of hLMR1 by dietary and genetic factors in nonalcoholic fatty liver disease and hyperlipidemia.Human genetics · 2024Article
- Evolution of a Human-Specific De Novo Open Reading Frame and Its Linked Transcriptional Silencer.International journal of molecular sciences · 2024Article
- Analysis of the landscape of human enhancer sequences in biological databases.Computational and structural biotechnology journal · 2022Article
- RefSeq Functional Elements as experimentally assayed nongenic reference standards and functional interactions in human and mouse.Genome research · 2022Article
- Epigenetic landscapes of intracranial aneurysm risk haplotypes implicate enhancer function of endothelial cells and fibroblasts in dysregulated gene expression.BMC medical genomics · 2021Article
- Epigenetic landscapes suggest that genetic risk for intracranial aneurysm operates on the endothelium.BMC medical genomics · 2019Article
- An intron-derived motif strongly increases gene expression from transcribed sequences through a splicing independent mechanism in Arabidopsis thaliana.Scientific reports · 2019Article
- CRISPR/Cas9 mediated mutation of mouse IL-1α nuclear localisation sequence abolishes expression.Scientific reports · 2017Article
Corrections and comments
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Authors and funding
1 author.
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Abstract
Exonic enhancers (eExons) are coding exons that also function as enhancers of the gene in which they reside or (a) nearby gene(s). Mutations that affect the enhancer activity of these eExons have been associated with human disease. Therefore, eExon mutations should be taken into account in exome and genome sequencing projects, not only because of the ability of these mutations to modify the encoded proteins but also because of their effects on enhancer activity.
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