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

Identification of functional single nucleotide polymorphisms in the branchpoint site.

Human genomics - 9 Nov 2017

Chiang Hung-Lun, Wu Jer-Yuarn, Chen Yuan-Tsong

Abstract excerpt

BACKGROUND: The human genome contains millions of single nucleotide polymorphisms (SNPs); many of these SNPs are intronic and have unknown functional significance. SNPs occurring within intron branchpoint sites, especially at the adenine (A), would presumably affect splicing; however, this has not been systematically studied. We employed a splicing prediction tool to identify human intron branchpoint sites and...

Read the complete abstract on PubMed

Topics

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

Share to Adenine
Share to Alternative Splicing
Share to Databases, Genetic

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA-Binding Proteins

Share to HEK293 Cells

Share to Introns

Share to Polymorphism, Single Nucleotide

Share to RNA Splicing

Source

Open in PubMed Open full text

Identifiers

PMID: 29121990
DOI: 10.1186/s40246-017-0122-6
PMCID: PMC5680774

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Identification of functional single nucleotide polymorphisms in the branchpoint site.PMID 29121990Read ↗

Assessment of branch point prediction tools to predict physiological branch points and their alteration by variantsSemantic proximity Read ↗

Genome-wide discovery of human splicing branchpoints.Semantic proximity Read ↗

Machine-learning annotation of human splicing branchpointsSemantic proximity Read ↗

Machine learning annotation of human branchpoints.Semantic proximity Read ↗

A sequence-based, deep learning model accurately predicts RNA splicing branchpointsSemantic proximity Read ↗

The intronic branch point sequence is under strong evolutionary constraint in the bovine and human genome.Semantic proximity Read ↗

Quantifying evolutionary constraints on the intronic branch point sequence in the bovine and human genomeSemantic proximity Read ↗

Genome-wide detection of human variants that disrupt intronic branchpointsSemantic proximity Read ↗

Phenotypic consequences of branch point substitutions.Semantic proximity Read ↗

Mechanism and modeling of human disease-associated near-exon intronic variants that perturb RNA splicing.Semantic proximity Read ↗

ssSNPTarget: genome-wide splice-site Single Nucleotide Polymorphism database.Semantic proximity Read ↗

Diagnostics of pathogenic splicing mutations: does bioinformatics cover all bases?Semantic proximity Read ↗

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