SNP Function Information from biomaRt
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Ting ▴ 10
@ting-6853
Last seen 9.4 years ago
United States

Hi, all

I'm trying to get function information,  nonsynonymous or synonymous, of all coding-area SNPs in chromosome 22 from biomaRt.

The code I tried is as below:

> require(biomaRt)
> mart <- useMart("snp")

> dataset <- useDataset("hsapiens_snp", mart=mart)
> filters <- listFilters(dataset)

> attributes <- listAttributes(dataset)

> snps.chr22 <- getBM(attributes=c('refsnp_id', 'chrom_start', 'minor_allele_freq', 'ensembl_gene_stable_id', 'consequence_type_tv'), filters='chr_name', values=22, mart=dataset)

> unique(snps.chr22$consequence_type_tv)
 [1] "downstream_gene_variant"           "upstream_gene_variant"            
 [3] "non_coding_exon_variant"           "nc_transcript_variant"            
 [5] "3_prime_UTR_variant"               "splice_region_variant"            
 [7] "synonymous_variant"                "intron_variant"                   
 [9] "NMD_transcript_variant"            "missense_variant"                 
[11] "5_prime_UTR_variant"               "stop_lost"                        
[13] "initiator_codon_variant"           ""                                 
[15] "feature_elongation"                "feature_truncation"               
[17] "stop_gained"                       "frameshift_variant"               
[19] "splice_donor_variant"              "inframe_insertion"                
[21] "splice_acceptor_variant"           "inframe_deletion"                 
[23] "coding_sequence_variant"           "stop_retained_variant"            
[25] "incomplete_terminal_codon_variant" "mature_miRNA_variant"             
[27] "transcript_ablation"              

There is nothing such as 'nonsynomynous' in consequence_type_tv. Even though there is a 'synonymous_variant' but that's not enough for me. Does anyone know if there is some other attribute(s) or filter(s) I can try to get such information? Thanks.

 

Best,

Ting

biomart snp nonsynonymous • 4.1k views
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I think you already have that information; it has just been separated into the various types of non-synonymous variants that can occur. You just have to select the type(s) of non-synonymous variants you care about, and do whatever you want, based on those data.

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Hi, James

Thank you for your response! So now I see that my code did bring me to the right place. And the next step is to recognize which of these variant types belong to nonsynonymous group. But I'm a statistician. Even though I'm taking biology class, it's still difficult for me to tell if some given variant type is a nonsynonymous one or not. Now I got 25 types of variants from 'consequence_type_tv'(excluding a " " and "synonymous_variant"). Could you please copy and paste the names of the nonsynonymous types here if that's not too much trouble?

Thank you very much!

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Thanks!!! That's really helpful!

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@sean-davis-490
Last seen 3 months ago
United States

The names in your biomaRt result are members of the sequence ontology, a directed-acyclic-graph of terms describing sequence features.  Using that ontology can help "lump" variants into more general categories.  See here, for an example entry for "nonsynonymous_variant".

http://www.sequenceontology.org/browser/current_release/term/SO:0001992

nonsynonymous variant DAG

 

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