Question: How to find if a rsID is exomic ?
1
gravatar for amandinelecerfdefer
4 weeks ago by
amandinelecerfdefer20 wrote:

Hello, I impute, annotate a vcf file and now I want to filter SNP which are exomic. How to find if an gene name (or rs ID or position) is exomic ?

gene • 158 views
ADD COMMENTlink modified 4 weeks ago • written 4 weeks ago by amandinelecerfdefer20

Thank you for all your proposals, I will analyse them.

ADD REPLYlink written 4 weeks ago by amandinelecerfdefer20
2
gravatar for Emily_Ensembl
4 weeks ago by
Emily_Ensembl18k
EMBL-EBI
Emily_Ensembl18k wrote:

How did you "annotate" it? If you ran a programme like the VEP then the information you need is in the variant consequences.

ADD COMMENTlink written 4 weeks ago by Emily_Ensembl18k

I would like to say put rsID for all variants thanks to GATK

ADD REPLYlink written 4 weeks ago by amandinelecerfdefer20

OK, then run it through the VEP

ADD REPLYlink modified 4 weeks ago • written 4 weeks ago by Emily_Ensembl18k
1
gravatar for mks002
4 weeks ago by
mks002170
Bangalore. India
mks002170 wrote:

Check the link

EVA

ADD COMMENTlink written 4 weeks ago by mks002170
1
gravatar for ATpoint
4 weeks ago by
ATpoint19k
Germany
ATpoint19k wrote:

Get the coordinates of the RS or the gene name and intersect with an annotation file (GTF). Please use the search function for it, this has been asked many times before.

A: how to get intronic and intergenic sequences based on gff file?

ADD COMMENTlink written 4 weeks ago by ATpoint19k
1
gravatar for Kevin Blighe
4 weeks ago by
Kevin Blighe45k
Kevin Blighe45k wrote:

Another answer via biomaRt:

snps <- c("rs6025", "rs424964","rs199473684")

require(biomaRt)

ensembl <- useMart("ENSEMBL_MART_SNP", dataset = "hsapiens_snp")

out <- getBM(
  attributes=c("refsnp_id", "chr_name", "chrom_start", "chrom_end",
    "allele", "mapweight", "validated", "allele_1", "minor_allele",
    "minor_allele_freq", "minor_allele_count", "clinical_significance",
    "synonym_name", "ensembl_gene_stable_id", "consequence_type_tv"),
    filters = "snp_filter",
    values = snps,
    mart=ensembl,
    uniqueRows=TRUE)

This will return a lot of information, some of which you don't need for your purpose (so, eliminate what you dont need from theattributes` parameter). You can infer an exonic rs ID in various ways, one being the final column, consequence_type_tv

unique(out[,c("refsnp_id","ensembl_gene_stable_id", "consequence_type_tv")])
     refsnp_id ensembl_gene_stable_id           consequence_type_tv
1  rs199473684        ENSG00000257529                intron_variant
2  rs199473684        ENSG00000102393           3_prime_UTR_variant
3  rs199473684        ENSG00000102393        NMD_transcript_variant
4  rs199473684        ENSG00000102393                intron_variant
5  rs199473684        ENSG00000102393 non_coding_transcript_variant
6  rs199473684                LRG_672                intron_variant
43    rs424964        ENSG00000257636 non_coding_transcript_variant
44    rs424964        ENSG00000257636                intron_variant
49      rs6025        ENSG00000198734              missense_variant
50      rs6025                LRG_553              missense_variant

See here, also: A: How to retrieve Gene name from SNP ID using biomaRt

Kevin

ADD COMMENTlink written 4 weeks ago by Kevin Blighe45k
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