Question: locateVariants missing some mutation site
gravatar for noeD
16 months ago by
noeD70 wrote:


I am using Variant Annotation package from Bioconductor to annotate my variant but it missed some variants in the output. For example, in var I have the following mutation site :

9751     chr6 41184897   G  A

I used GRanges for the genomic locations and their associated annotations:

gr <-  GRanges(seqnames = var$CHROM, ranges = IRanges(as.numeric(var$POS), as.numeric(var$POS)), strand="*")

The output was:

    GRanges object with 1 range and 0 metadata columns:
      seqnames               ranges strand
         <Rle>            <IRanges>  <Rle>
  [1]     chr6 [41184897, 41184897]      *
  seqinfo: 1 sequence from an unspecified genome; no seqlengths

After that, I used locateVariants to annotate the sites:

gr_var <- locateVariants(gr, txdb, AllVariants(), ignore.strand=T)

where txdb is txdb <- TxDb.Hsapiens.UCSC.hg19.knownGene (library of R).

But I obtained this output:

GRanges object with 0 ranges and 9 metadata columns:
   seqnames    ranges strand | LOCATION  LOCSTART    LOCEND   QUERYID      TXID         CDSID      GENEID       PRECEDEID        FOLLOWID
      <Rle> <IRanges>  <Rle> | <factor> <integer> <integer> <integer> <integer> <IntegerList> <character> <CharacterList> <CharacterList>
  seqinfo: no sequences

I searched the mutation site in genome Browser and I found its genes: TREML3 (Entrez Gene ID: 340206)

Therefore, I looked into txdb if it was reported the 340206 gene ID:

txdb <- TxDb.Hsapiens.UCSC.hg19.knownGene
exon_columns <- columns(txdb)
exon_columns <- exon_columns[which(exon_columns %in% c("EXONID", "EXONNAME", "GENEID"))]
all_exons <- exons(txdb, columns=exon_columns)
temp <-
temp[temp$GENEID == "340206", ]

And I found that the Gene_ID is included in txdb:

seqnames    start      end width strand EXONID EXONNAME GENEID
    95166     chr6 41176292 41176892   601      -  95166     <NA> 340206
    95167     chr6 41177337 41177468   132      -  95167     <NA> 340206
    95168     chr6 41183500 41183557    58      -  95168     <NA> 340206
    95169     chr6 41184865 41184915    51      -  95169     <NA> 340206
    95170     chr6 41185391 41185685   295      -  95170     <NA> 340206

Do you have any suggestions as to how to solve?

Thank you in advance


ADD COMMENTlink written 16 months ago by noeD70
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