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How to get a unique target gene for each SNP from different chromosomes/genes in a list at once?

Hello, folks!

I have a huge list with SNPs from different chromosomes/genes (human data set), and I wanna know the target genes for each one of them at once (if possible). It would be important to catch only one gene ID per SNP (top rated).

I have tried using the Ensembl Biomart Tool setting the following parameters:

Data set: Human Short Variants (SNPs and indels excluding flagged variants) (GRCh38.p10)

Filters:

  • Chromosome/scaffold: Chromosomes that I know to have those SNPs
  • Filter by Variant name (e.g. rs123, CM000001) [Max 500 advised]: SNP list (rs*)

Attributes

  • Chromosome/scaffold name
  • Variant name
  • Gene stable ID

Nevertheless, I got an even bigger list with repeated SNPs and Ensembl ID's for the target genes when I expected unique and usual gene symbol. For example, I would expect "TP53" for "rs1042522", "LAMB3" for "rs80356682", and so on...

Any help/tip would be greatly appreciated!

snp gene
• 2,457 views • link
updated by Alex Reynolds Alex Reynolds • written by cmcouto.silva • cmcouto.silva

bedtools intersect ?

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written by cpad0112 cpad0112

2 answers

Try ANNOVAR table_annovar.pl) : http://annovar.openbioinformatics.org/en/latest/user-guide/startup/

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written by Maxime Lamontagne Maxime Lamontagne

You could use BEDOPS bedmap to map positions from vcf2bed to gene names from gff2bed:

$ bedmap --echo --echo-map-id-uniq <(vcf2bed < snps.vcf) <(gff2bed < genes.gff) > answer.bed

This gives you SNP positions and their metadata, along with a list of overlapping gene IDs.

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written by Alex Reynolds Alex Reynolds

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