Gene Mutation Frequency percentage
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8.5 years ago

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

gene mutation database resource • 3.5k views
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Make sure you control for genelength, or it'll be a Titin-heavy party

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

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Do you mean genotype frequencies? or perhaps SNP frequencies?

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Yeah SNP frequencies of individual genes.

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

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8.5 years ago

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

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

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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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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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