Gene Mutation Frequency percentage

Question

[Pranavathiyani G]

Is there any resource where I can get the mutation frequency percentage of all human genes?

[russhh]

Make sure you control for genelength, or it'll be a Titin-heavy party

[Ram]

Define mutation frequency percentage. Also, elaborate why you'd need this resource. Give us some context.

[KevinL]

Do you mean genotype frequencies? or perhaps SNP frequencies?

[Pranavathiyani G]

Yeah SNP frequencies of individual genes.

[Pranavathiyani G]

Rate of mutations in a gene, to know how often this gene gets mutated. (May be my context is wrong)

Answer 1

[WouterDeCoster]

I think you might be interested in data from the ExAC study (http://exac.broadinstitute.org/) in which they quantified the gene (in)tolerance to both all variations and loss-of-function variations and the less-than-expected likelihood of finding these mutations.

[Shicheng Guo]

Hi Wouter, Where I can download pre-annotated loss-of-function SNVs?

[WouterDeCoster]

My answer was about a variant intolerance score per gene, not annotations for individual SNVs.

[Shicheng Guo]

Yes. the score you mentioned can be downloaded from their website. but the score of definition for each SNV was not available in the downloaded file, however, these loss-of-function annotation is shown in the ExAC web-service.

[Ram]

I think this should either be a new biostars question or an email to ExAC - preferably the latter as they can best address your question on differences in data accessible online vs via a download.