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 #BioMart tool is what you’re going to need for this task. You can find it in the blue header from the @ensembl homepage: ensembl.org/biomart/martvi…
3/ First, you’ll need to select your database type and species of interest using the drop-down menus. In this case, we want to select ‘Ensembl Genes 111’ and the ‘Human genes’ dataset.
2/ Gene-level tissue-specific expression patterns from @ExpressionAtlas are displayed in the Gene tab. Just search for your gene of interest, click through to the gene tab and then click on ‘Gene Expression’ in the left-hand menu. Let’s use SERPINA3 as an example:
@ExpressionAtlas 3/ On this page, you can view baseline expression results as a heatmap with all tissues studied (columns) in different experiments (rows) in which the gene is expressed above the default minimum expression level.
2/ If you are working with human 🧑🤝🧑 variation data, genome-wide variant deleteriousness rankings from the CADD algorithm are available as well as pathogenicity predictions from SIFT, Polyphen-2, REVEL, MutationAssessor and MetaLR for missense variants.
3/ You can see all this data in the ‘Variant Table’ page in the gene tab
👉 https://t.co/vZAsntjEXYensembl.org/Homo_sapiens/G…
2/ To start, look for the #canonical tag in the flags column of the transcript table. The canonical transcript is based on conservation, expression, concordance with @appris_cnio and @uniprot, length, clinically important variants and completeness.
3/ Many Ensembl #canonical transcripts will also be the #MANESelect, which is our collaboration with @NCBI. These transcripts match perfectly with RefSeq transcripts, so are the best to report variant location.
2/ If you need the sequence of a single #gene, you can search for the gene symbol or ID from Ensembl homepage and click on ‘Sequence’ in the menu on the left
3/ From this page, you can download the sequence of the gene by clicking on the blue ‘Download Sequence’ button just above the sequence display.
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…