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Splicing Mutation Databases?

Hi,

I'm looking for databases of mutations that were proved to affect splicing. I'm familiar with the DBASS3&5 that share mutations of alternative 3'\5' splice sites, but couldn't find data of exon skipping\intron retention mutations.

If you know any paper that provide a set of such mutations it will also help.

Thanks in advance

mutation database splicing exon
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updated by Ram Ram • written by nonish5 • nonish5

1 answer

The Human Gene Mutation Database (HGMD) currently contains 8,845 splicing mutations.

Mutations with consequences for mRNA splicing are presented in brief with information specifying the relative position of the lesion with respect to a numbered intron donor or acceptor splice site. Positions given as positive integers refer to a 3' (downstream) location, negative integers refer to a 5' (upstream) location.

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updated by Ram Ram • written by Malachi Griffith Malachi Griffith

You are right, and I know this database. Indeed, it contains a nice collection of mutations in human. However, unfortunately, I couldn't find the mutation effect and thus can not use it (I also checked the full version that requires a license).

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written by nonish5 • nonish5

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