2/ The Variant Effect Predictor (VEP) is what you’re going to need for this task. You can find it in the blue header from the @ensembl homepage: ensembl.org/info/docs/tool…
3/ Click the ‘Launch VEP’ button to open the VEP web tool and enter your input data using instructions in the documentation:
👉ensembl.org/info/docs/tool…
4/ Now, select the 'Protein matches' option from the ‘Protein Annotation’ panel to retrieve overlapping protein domains from @PfamDB, Prosite and @InterProDB.
5/ When this option is selected, as well as reporting the IDs of overlapping protein domains, the VEP output will also show links to a 3D protein viewer if the variant overlaps an #Alphafold model or a @PDBeurope protein model.
6/ On top of this, you can also use the VEP to find whether your variants fall in sites with evidence of impact on protein interactions.
7/ Just select the ‘IntAct’ option from the ‘Protein Annotation’ panel. The results table has links to the @intact_project from the interaction accession and links to any journals via the PubMed identifier so you can find further information.
1/ Do you need reference sequence files from #Ensembl? All of the different files available can be confusing. Here’s a thread to help you decide which files you need…🧵
2/ The way you approach this problem will depend on if you are starting with a #gene of interest or if you already have the ID (e.g rs699) of a variant for which you want to find the observed allele frequencies.
3/ If you are starting with a gene, search for the gene name or ID from the #Ensembl homepage and navigate to the Gene tab.
Want to learn about a gene function, but there’s no functional data in your species of interest? Or maybe looking for a homologue of your fav gene in a model organism to carry out functional work? Look no further! This #tweetorial will show you how to find orthologues in @ensembl
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Let’s start on the Ensembl homepage and search for our #gene of interest SCP2 by typing its name into the search box. Then go to the gene tab by clicking on the gene name in the search results.
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You can learn more about the #gene function by exploring gene ontology terms and associated phenotypes. Let’s click on Phenotypes in the side menu. This view shows phenotypes associated with our gene of interest and variants in this gene.