Determinants of the usage of splice-associated cis-motifs predict the distribution of human pathogenic SNPs

Molecular Biology and Evolution

Volumn 33, Issue 2, 2016, Pages 518-529

  Wu, XianMing ^a   Hurst, Laurence D ^a  

^a Milner Centre for Evolution   (United Kingdom)

Author keywords

exonic splicing enhancer; pathogenic SNPs; splice site; splicing cis motif

Indexed keywords

CIS ACTING ELEMENT; RNA SPLICING;

ARTICLE; CONTROLLED STUDY; DNA FLANKING REGION; ENHANCER REGION; EXON; EXONIC SPLICING ENHANCER; FLANKING INTRON; GENE EXPRESSION; GENE SEQUENCE; HUMAN; HUMAN GENOME; INTRON; NONSENSE MUTATION; PATHOGENIC SINGLE NUCLEOTIDE POLYMORPHISM; PROTEIN MOTIF; RELATIVE DENSITY; SILENT MUTATION; SINGLE NUCLEOTIDE POLYMORPHISM; SPLICING DEFECT; GENETIC PREDISPOSITION; MUTATION; NUCLEOTIDE MOTIF; OPEN READING FRAME; QUANTITATIVE TRAIT; RNA SPLICING;

ENHANCER ELEMENTS, GENETIC; EXONS; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INTRONS; MUTATION; NUCLEOTIDE MOTIFS; OPEN READING FRAMES; POLYMORPHISM, SINGLE NUCLEOTIDE; QUANTITATIVE TRAIT, HERITABLE; RNA SPLICE SITES; RNA SPLICING;

EID: 84964608718     PISSN: 07374038     EISSN: 15371719     Source Type: Journal    
DOI: 10.1093/molbev/msv251     Document Type: Article

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