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
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.
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!
http://useast.ensembl.org/info/genome/variation/predicted_data.html#consequences
Scroll down to the table.
Thanks!!! That's really helpful!