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KarchinLab / open-cravat

A modular annotation tool for genomic variants
MIT License
110 stars 27 forks source link

UniProt #199

Closed jwehr618 closed 3 months ago

jwehr618 commented 7 months ago

Hello,

You would be able to pull from Unitprot the domain information in addition to what is already pulled in the OC output. What we would need is if there is a domain, the name of the domain, and the amino acid position. This is to determine whether the variant annotated falls in a domain or not. I work with the command line output, so would be great for it to be in the Excel output.

Thanks

kmoad commented 7 months ago

We are working on adding this.

kmoad commented 3 months ago

We have added a new annotator uniprot_domain that will return the domain a variant is found in. It is based on the domain bed file from https://ftp.uniprot.org/pub/databases/uniprot/current_release/knowledgebase/genome_annotation_tracks/UP000005640_9606_beds/