Aberrant splicing caused by exonic single nucleotide variants positioned 2nd or 3rd to the last nucleotide in the COL4A5 gene.

Eri OkadaYuya AotoTomoko HorinouchiTomohiko YamamuraYuta IchikawaYu TanakaChika UedaHideaki KitakadoAtsushi KondoNana SakakibaraRyota SuzukiJoichi UsuiKunihiro YamagataKazumoto IijimaKandai Nozu

Published in: Clinical and experimental nephrology (2022)

We revealed that exonic SNVs positioned 2nd or 3rd to the last nucleotide of exons in the COL4A5 were responsible for aberrant splicing. The results of our study suggest that attention should be paid when interpreting the pathogenicity of exonic SNVs near the 5' splice site.

Keyphrases

copy number
working memory
genome wide
gene expression
pseudomonas aeruginosa
cystic fibrosis
genome wide identification