Matching genomic positions to protein funtional/sctructural domains

Question

[luisantome]

Hi there,

I wish to annotate genomic variants with some kind of information related to protein conserved domains and (specially) functional domains 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!

Answer 1

[rbagnall]

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): ftp://ftp.scripps.edu/incoming/asu/dbNSFPv2.9.zip

But perhaps have a look at the README first to see what is included: https://drive.google.com/file/d/0B60wROKy6OqcLXhCMEFaWE52X0U/view

[luisantome]

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