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Gene Mutation Frequency percentage

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

gene mutation database resource
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updated by WouterDeCoster WouterDeCoster • written by Pranavathiyani G Pranavathiyani G

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

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written by Ram Ram

Do you mean genotype frequencies? or perhaps SNP frequencies?

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written by KevinL • KevinL

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

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written by Pranavathiyani G Pranavathiyani G

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

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written by russhh russhh

1 answer

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.

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written by WouterDeCoster WouterDeCoster

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

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written by Shicheng Guo Shicheng Guo

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

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written by WouterDeCoster WouterDeCoster

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.

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written by Shicheng Guo Shicheng Guo

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.

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written by Ram Ram

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