1/ It’s another Thursday, and that means it’s time for another #tweetorial! Today, we want to show you how you can view RefSeq #annotations on Ensembl 🥳
2/ While Ensembl gene models are annotated directly on the reference genome, #RefSeq are annotated on mRNA sequences. In other words: genome browsers will have different annotation methods, so you might be interested in comparing these annotations side-by-side 📖🤔
3/ 👂🏽You say you want to make direct comparisons of annotations between @NCBI’s RefSeq and Ensembl? Now is your time to try it out on Ensembl! 🏃🏽
4/ On the Ensembl browser, you can add a RefSeq annotation #track to the region you are currently studying:
1⃣ Go to the “Location” tab
2⃣ Click “Configure this page”
3⃣ Search for “RefSeq” in the pop-up window
5/ Scrolling down to the “Region in detail” view, you will find the RefSeq track has now been added:
6/ Focussing on the #BNIP3L#gene, we can see that two protein-coding transcripts have been annotated by RefSeq. We can also see the MANE Select track shows one #protein-coding transcript:
7/ The "Matched Annotation from @NCBI and @emblebi (MANE) Select is a single representative #transcript, which is well-supported, highly-conserved and biologically relevant. This transcript is a 100% match between RefSeq and #Ensembl
8/ You can also retrieve RefSeq IDs that are linked to Ensembl transcripts through #BioMart and via the REST #API as ✨xrefs✨ ➡️ bit.ly/3bPOLZR
9/9 Want to learn more about the Ensembl gene annotation process? 🤓 There is plenty of information in our help pages here: bit.ly/3Absy1Y
Happy comparing!! 🪩🎉
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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…
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
2/14
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.
3/14
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.