Database Of Classifications Mutations

Question

[antgomo]

Hi all, I've been searching but I didn't get the proper answers. I'm working with mutations that I collected from COSMIC and now I'm trying to categorizae them on those which are affecting function, so I merged the info with Polyphen and Mutation Assessor, the point is that, I want to categorize them in those which are mutations taht produce loss of function and those which produce gain of function ( anamorphic and neomorphic). I'm trying to find some place where I get this info, but it seems nobody has done it, it is correct?

Answer 1

[Pierre Lindenbaum]

see the SNP-Ontology : http://bioportal.bioontology.org/ontologies/1058

SNP-Ontology is a domain ontology that provides a formal representation (OWL-DL) of genomic variations. Despite its name, SNP-Ontology, is not limited to the representation of SNPs but it encompasses genomic variations in a broader meaning. SNP-Ontology is general enough to enable the representation of variations observed in genome of various species. Latest versions of SNP-Ontology include the representation of haplotype and of CNV.

EDIT: and SO: sequence ontology http://www.sequenceontology.org/

The Sequence Ontology is a set of terms and relationships used to describe the features and attributes of biological sequence.

Answer 2

[antgomo]

Thanks Pierre, but I am not confident with owl, moreover I need something more specific, I only want to know if the mutations affection are gain or loss of function

[Pierre Lindenbaum]

this should be a comment, not another answer.

[Pierre Lindenbaum]

what does your input look like ?

[antgomo]

sorry, I click in the other button :(. My input is chr, mapinfo, category of the mutation of MA assessor ( medium, high or low). I want to know if my catalogued medium or high mutations are giving to the protein loss or gain of function

[Pierre Lindenbaum]

search biostar for mutation+prediction. There is a bunch of answers here.