First estimate of the scale of canonical 5′ splice site GT>GC variants capable of generating wild‐type transcripts

It has long been known that canonical 5′ splice site (5′SS) GT>GC variants may be compatible with normal splicing. However, to date, the actual scale of canonical 5′SSs capable of generating wild‐type transcripts in the case of GT>GC substitutions remains unknown. Herein, combining data derive...

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Bibliographic Details
Published in:	Human mutation 2019-10, Vol.40 (10), p.1856-1873
Main Authors:	Lin, Jin‐Huan, Tang, Xin‐Ying, Boulling, Arnaud, Zou, Wen‐Bin, Masson, Emmanuelle, Fichou, Yann, Raud, Loann, Le Tertre, Marlène, Deng, Shun‐Jiang, Berlivet, Isabelle, Ka, Chandran, Mort, Matthew, Hayden, Matthew, Leman, Raphaël, Houdayer, Claude, Le Gac, Gerald, Cooper, David N., Li, Zhao‐Shen, Férec, Claude, Liao, Zhuan, Chen, Jian‐Min
Format:	Article
Language:	English
Subjects:	Alternative Splicing Base Sequence canonical 5′ splice site Cell culture Cells, Cultured Complementarity Computational Biology - methods Databases, Nucleic Acid Exons full‐length gene splicing assay Gene Expression Profiling Gene Expression Regulation Genetic Variation Genetics genotype and phenotype relationship High-Throughput Nucleotide Sequencing human gene mutation database Human genetics human inherited disease Humans Introns Life Sciences noncanonical splice donor site Nucleotide Motifs Phenotypes Position-Specific Scoring Matrices RNA Splice Sites Sequence Analysis, DNA snRNA Splicing
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