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Database of Mutations and the associated drugs

Hi all,

I am looking for a database of the clinically relevant mutations that are targetable.(based on mutation level and not gene level) Something similar to what Oncokb has but not sure if its comprehensive? http://oncokb.org/#/actionableGenes Are there any such databases ?Any suggestions would be helpful.

Thanks

Ron

wes ngs
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updated by Kevin Blighe Kevin Blighe • written by Ron Ron

1 answer

PharmGKB

One that I find really intriguing (and wish that I had more time to data mine) is PharmGKB. This contains data on individual variants' relationships to things like metabolite metabolism, drug actionability, et cetera.

An example:

Annotation of rs3808607

Genotype GG is associated with decreased response to atorvastatin in people with Hypercholesterolemia as compared to genotype TT. Please note; this variant was described as CYP7A1 A-204C (alleles here are complemented for the plus chromosomal strand). The effect of the rs11887534 C allele was greater in patients with the rs3808607 TT genotype and became smaller with increased number of rs3808607 G alleles.

[source: https://www.pharmgkb.org/variantAnnotation/982043900]

The data can be downloaded as tables.

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Open Targets

You may also want to check out Open Targets, from Denise at EBI in Hinxton (Cambridge), UK. Also here: Open Targets and programmatic access

Kevin

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written by Kevin Blighe Kevin Blighe

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