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Aug 11, 2022 9 tweets 7 min read Read on X
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 🥳

#bioinf #genomics #assembly #EnsemblTraining
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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More from @ensembl

Feb 8
1/ Do you have a list of @ensembl IDs that you want to convert to IDs from other databases?

Here's how you can retrieve the @NCBI gene IDs from a list of #Ensembl IDs. A thread...🧵

#genomics #bioinformatics #tweetorial #Ensembltraining 🧬 A table showing Ensembl stable gene IDs in one column and the corresponding NCBI gene IDs in the next column, with a red arrow between them
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…
Screenshot of the Ensembl genome browser homepage with a labelled red arrow pointing towards the link for the BioMart tool
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.
Read 14 tweets
Nov 23, 2023
1/ From ~20,000 coding genes in humans, biological complexity is also the result of gene/transcript expression levels in different tissues 📈

Want to see the expression of a #gene using @ensembl? A thread...🧵

#genomics #bioinformatics #tweetorial #Ensembltraining 🧬 Screenshot from the Ensembl genome browser showing the location tab with tracks displaying gene models and RNASeq alignments from adipose and blood tissue
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. Screenshot from the Ensembl genome browser showing tissue specific expression patterns of the SERPINA3 gene
Read 11 tweets
Jul 6, 2023
1/ Do you want to know if a variant will affect the structure and function of a protein?

We’ve got lots of tools and #data in @ensembl to help you investigate and we’re here to show you how! A thread...🧵

#genomics #bioinformatics # #tweetorial #Ensembltraining🧬
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…
Read 10 tweets
Feb 23, 2023
1/ My favourite gene has 15 transcripts, which one should I use for further analysis? To report the position of variants? To design primers for? 🤯

This #tweetorial will show you how to filter and prioritise transcripts… 🧵

#genomics #bioinformatics #Ensembltraining 🧬 Screenshot of the transcript table of the LAMA3 gene in the
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. Screenshot of the transcript table of the LAMA3 gene in the
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. Screenshot of the transcript table of the LAMA3 gene in the
Read 8 tweets
Dec 22, 2022
1/ Are you ready for 🎄🎅Chirstmas #Tweetorial? Whether you need the sequence for a single exon or whole #genome we got you covered! In the spirit of #Christmas, we will use Vitis vinifera 🍇 🍷in our example
#genomics #bioinformatics #Ensembltraining
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.
Read 10 tweets
Aug 4, 2022
1/ You’ve sequenced your samples and identified variants. Great! 🙌

Now, here's how you can use @ensembl to find out the effect of your variants on #protein structures and interactions. A thread...🧵

#genomics #bioinformatics #tweetorial #Ensembltraining 🧬 A screenshot from Ensembl's Alphafold protein viewer with va
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…

#VEP Screenshot of Ensembl's homepage with annotated arrow pointi
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… Screenshot of Ensembl's VEP web interface documentation and
Read 10 tweets

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