Question: Matching genomic positions to protein funtional/sctructural domains
gravatar for luisantome
5.0 years ago by
luisantome50 wrote:

Hi there,

I wish to annotate genomic variants with some kind of information related to protein conserved domains and (specially) functional domais to predict their potential role in human disease.

I was googling on the USCS genome browser and I found some tables that I could use with ANNOVAR or VEP (CCDS, Conserved,etc.). Do you know out there any other resource?

Thanks a lot!

ADD COMMENTlink modified 16 months ago by Biostar ♦♦ 20 • written 5.0 years ago by luisantome50
gravatar for rbagnall
5.0 years ago by
rbagnall1.5k wrote:

dbNSFP_variant database ( contains a lot of annotations for all possible non-synonymous SNPs. The annotations include annotated protein structural/functional domains  "Interpro_domain"

dbNSFP can be downloaded here (~7.5GB):

But perhaps have a look at the README first to see what is included:



ADD COMMENTlink written 5.0 years ago by rbagnall1.5k

thank you so much rbagnall for your comment. that's exactly what I was looking for

ADD REPLYlink written 5.0 years ago by luisantome50
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