Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Enhancer Domains Predict Gene Pathogenicity and Inform Gene Discovery in Complex Disease.

American journal of human genetics - 6 Feb 2020

Wang Xinchen, Goldstein David B

Abstract excerpt

Non-coding transcriptional regulatory elements are critical for controlling the spatiotemporal expression of genes. Here, we demonstrate that the sizes and number of enhancers linked to a gene reflect its disease pathogenicity. Moreover, genes with redundant enhancer domains are depleted of cis-acting genetic variants that disrupt gene expression, and they are buffered against the effects of disruptive non-coding...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Developmental Disabilities
Share to Enhancer Elements, Genetic
Share to Gene Expression Profiling

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Gene Expression Regulation

Share to Genetic Variation

Share to Genome-Wide Association Study

Share to Multifactorial Inheritance

Share to Quantitative Trait Loci

Source

Open in PubMed Open full text

Identifiers

PMID: 32032514
DOI: 10.1016/j.ajhg.2020.01.012
PMCID: PMC7010980

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Enhancer Domains Predict Gene Pathogenicity and Inform Gene Discovery in Complex Disease.PMID 32032514Read ↗

Enhancer redundancy predicts gene pathogenicity and informs complex disease gene discoverySemantic proximity Read ↗

Genomic views of distant-acting enhancers.Semantic proximity Read ↗

Loss-of-function tolerance of enhancers in the human genome.Semantic proximity Read ↗

Loss-of-function tolerance of enhancers in the human genomeSemantic proximity Read ↗

Quantifying deleterious effects of regulatory variants.Semantic proximity Read ↗

Cis-regulatory Landscape Size, Constraint, and Tissue Specificity Associate with Gene Function and Expression.Semantic proximity Read ↗

From remote enhancers to gene regulation: charting the genome's regulatory landscapes.Semantic proximity Read ↗

Dual Function of DNA Sequences: Protein-Coding Sequences Function as Transcriptional Enhancers.Semantic proximity Read ↗

Genome-wide Enhancer Maps Differ Significantly in Genomic Distribution, Evolution, and FunctionSemantic proximity Read ↗

An encyclopedia of enhancer-gene regulatory interactions in the human genomeSemantic proximity Read ↗

Functional enrichments of disease variants across thousands of independent loci in eight diseasesSemantic proximity Read ↗

Exonic enhancers are a widespread class of dual-function regulatory elements.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.