How to get URL link on X (Twitter) App
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…
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:
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.
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.
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
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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…
2/ Whole-genome reference files for each species in Ensembl can be found on the FTP site 🧑🤝🧑🐭🐄🐶🐟
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.
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