[ensembl-dev] Annotating variants against custom transcripts

Anja Thormann anja at ebi.ac.uk
Tue Jan 16 14:21:15 GMT 2018


Hi Shawn,

I noticed that you are not using the supported VEP code. You can install the new code by following the instructions here: http://www.ensembl.org/info/docs/tools/vep/script/vep_download.html <http://www.ensembl.org/info/docs/tools/vep/script/vep_download.html>

The new VEP code supports annotations against a GFF or GTF file: http://www.ensembl.org/info/docs/tools/vep/script/vep_options.html#other <http://www.ensembl.org/info/docs/tools/vep/script/vep_options.html#other>

Anja


> On 16 Jan 2018, at 14:06, Shawn Yost <yostshawn at gmail.com> wrote:
> 
> Hi,
> I would like to annotate my VCF file against a custom transcript database. I've created both a GFF v3 file and a GTF file (see below) and I have been unsuccessful in getting VEP to annotate against these transcripts. The examples below are before using sort + bgzip + tabix (so that is not the problem).
> 
> I'm currently running VEP v85.
> 
> The command I used was:
> variant_effect_predictor.pl <http://variant_effect_predictor.pl/> -i IN.vcf --custom test.gff.gz,,gff -fasta test.fa --cache -o OUT -dir /path/to/cache --hgvs --cache_version 75 --offline --force_overwrite
> 
> In the outputted file I only see ENSTs and can't find the transcripts I inputted along with them.  The same thing occurs if I run --custom test.gtf.gz,,gtf.  If I change the command to --custom test.gtf.gz,,gtf,overlap it will tell me if it overlaps the inputted transcript but it doesn't annotate against the transcript.
> 
> 
> Is there a problem with the command options I am using? Is there a problem with the inputted files?  How do I get VEP to annotate the variant against my custom transcript (i.e. 412662  2:73613056      A       GENE1  TRANSCRIPT1 Transcript      synonymous_variant ....)?
> 
> 
> 
> Example output:
> 241004  2:73613032-73613049     -       ENSG00000116127 ENST00000264448 Transcript      inframe_deletion        147-164 36-53   12-18       LEEEEEE/L       ctGGAGGAGGAGGAGGAGGAg/ctg       -      IMPACT=MODERATE;STRAND=1;HGVSc=ENST00000264448.6:c.36_53delNNNNNNNNNNNNNNNNNN;HGVSp=ENSP00000264448.6:p.Glu23_Glu28del
> 412662  2:73613056      A       ENSG00000116127 ENST00000377715 Transcript      synonymous_variant      171     60      20      E  gaG/gaA  -      IMPACT=LOW;STRAND=1;HGVSc=ENST00000377715.1:c.60N>A;HGVSp=ENST00000377715.1:c.60N>A(p.%3D)
> 412662  2:73613056      A       ENSG00000116127 ENST00000409009 Transcript      synonymous_variant      171     60      20      E  gaG/gaA  -      IMPACT=LOW;STRAND=1;HGVSc=ENST00000409009.1:c.60N>A;HGVSp=ENST00000409009.1:c.60N>A(p.%3D)
> 412662  2:73613056      A       ENSG00000116127 ENST00000264448 Transcript      synonymous_variant      171     60      20      E  gaG/gaA  -  IMPACT=LOW;STRAND=1;HGVSc=ENST00000264448.6:c.60N>A;HGVSp=ENST00000264448.6:c.60N>A(p.%3D)
> 402364  2:73613066-73613071     -       ENSG00000116127 ENST00000377715 Transcript      inframe_deletion        181-186 70-75   24-25       EE/-    GAGGAA/-        -       IMPACT=MODERATE;STRAND=1;HGVSc=ENST00000377715.1:c.70_75delNNNNNN;HGVSp=ENSP00000366944.1:p.Glu27_Glu28del
> 
> 
> 
> GFF v3 file:
> 15      .       transcript      74701625        74726300        .       -       .       ID=TRANSCRIPT1;Alias=10741;Name=SEMA7A
> 15      .       exon    74726082        74726300        .       -       .       ID=EXON37A10411.1;Parent=TRANSCRIPT1
> 15      .       exon    74711142        74711293        .       -       .       ID=EXON37A10411.2;Parent=TRANSCRIPT1
> 15      .       exon    74710609        74710650        .       -       .       ID=EXON37A10411.3;Parent=TRANSCRIPT1
> 15      .       exon    74710218        74710310        .       -       .       ID=EXON37A10411.4;Parent=TRANSCRIPT1
> 15      .       exon    74709932        74710016        .       -       .       ID=EXON37A10411.5;Parent=TRANSCRIPT1
> 15      .       exon    74709676        74709786        .       -       .       ID=EXON37A10411.6;Parent=TRANSCRIPT1
> 15      .       exon    74708916        74709055        .       -       .       ID=EXON37A10411.7;Parent=TRANSCRIPT1
> 15      .       exon    74708142        74708326        .       -       .       ID=EXON37A10411.8;Parent=TRANSCRIPT1
> 15      .       exon    74707179        74707287        .       -       .       ID=EXON37A10411.9;Parent=TRANSCRIPT1
> 15      .       exon    74706888        74707086        .       -       .       ID=EXON37A10411.10;Parent=TRANSCRIPT1
> 15      .       exon    74704226        74704353        .       -       .       ID=EXON37A10411.11;Parent=TRANSCRIPT1
> 15      .       exon    74703897        74704051        .       -       .       ID=EXON37A10411.12;Parent=TRANSCRIPT1
> 15      .       exon    74703636        74703697        .       -       .       ID=EXON37A10411.13;Parent=TRANSCRIPT1
> 15      .       exon    74701625        74703326        .       -       .       ID=EXON37A10411.14;Parent=TRANSCRIPT1
> 15      .       CDS     74726082        74726259        .       -       0       ID=CDS37A10411.1;Parent=TRANSCRIPT1
> 15      .       CDS     74711142        74711293        .       -       2       ID=CDS37A10411.2;Parent=TRANSCRIPT1
> 15      .       CDS     74710609        74710650        .       -       0       ID=CDS37A10411.3;Parent=TRANSCRIPT1
> 15      .       CDS     74710218        74710310        .       -       0       ID=CDS37A10411.4;Parent=TRANSCRIPT1
> 15      .       CDS     74709932        74710016        .       -       0       ID=CDS37A10411.5;Parent=TRANSCRIPT1
> 15      .       CDS     74709676        74709786        .       -       2       ID=CDS37A10411.6;Parent=TRANSCRIPT1
> 15      .       CDS     74708916        74709055        .       -       2       ID=CDS37A10411.7;Parent=TRANSCRIPT1
> 15      .       CDS     74708142        74708326        .       -       0       ID=CDS37A10411.8;Parent=TRANSCRIPT1
> 15      .       CDS     74707179        74707287        .       -       1       ID=CDS37A10411.9;Parent=TRANSCRIPT1
> 15      .       CDS     74706888        74707086        .       -       0       ID=CDS37A10411.10;Parent=TRANSCRIPT1
> 15      .       CDS     74704226        74704353        .       -       2       ID=CDS37A10411.11;Parent=TRANSCRIPT1
> 15      .       CDS     74703897        74704051        .       -       0       ID=CDS37A10411.12;Parent=TRANSCRIPT1
> 15      .       CDS     74703636        74703697        .       -       1       ID=CDS37A10411.13;Parent=TRANSCRIPT1
> 15      .       CDS     74702965        74703326        .       -       2       ID=CDS37A10411.14;Parent=TRANSCRIPT1
> 
> 
> GTF file:
> TRANSCRIPT1    15   -       74701624        74726300        74702964        74726259        14      74701624,74703635,74703896,74704225,74706887,74707178,74708141,74708915,74709675,74709931,74710217,74710608,74711141,74726081,      74703326,74703697,74704051,74704353,74707086,74707287,74708326,74709055,74709786,74710016,74710310,74710650,74711293,74726300,      0       HGNC:10741      cmplcmpl    1,2,0,1,0,2,0,1,1,0,0,0,1,0,
> TRANSCRIPT2    17   -       8108048 8113944 8108188 8113542 9       8108048,8108533,8109808,8110067,8110493,8110888,8111055,8113494,8113847,    8108362,8108708,8109957,8110206,8110685,8110943,8111158,8113567,8113944,        0       HGNC:11390      cmpl    cmpl0,2,0,2,2,1,0,0,-1,
> TRANSCRIPT3    11   -       73711325        73720282        73712456        73718087        7       73711325,73714871,73715528,73716774,73717213,73717961,73720022,     73712571,73715052,73715630,73716978,73717424,73718182,73720282, 0       HGNC:12519      cmplcmpl    2,1,1,1,0,0,-1,
> TRANSCRIPT4    11   -       123594634       123612391       123596704       123601596       9       123594634,123598183,123598840,123599833,123600322,123601194,123610824,123611124,123612256,  123597699,123598303,123598970,123599922,123600533,123601693,123610900,123611244,123612391,  0       HGNC:12994      cmpl    cmpl    1,1,0,1,0,0,-1,-1,-1,
> TRANSCRIPT5    19   -       51994480        52005043        51994894        52004987        8       51994480,52000133,52000602,52001271,52002423,52002691,52003173,52004560,    51995083,52000230,52000699,52001541,52002471,52002970,52003554,52005043,        0  HGNC:15482       cmpl    cmpl    0,2,1,1,1,1,1,0,
> TRANSCRIPT6    1    +       228194722       228248972       228194829       228247166       4       228194722,228210367,228238356,228246686,    228194900,228210609,228238622,228248972,        0       HGNC:15983      cmpl    cmpl    0,2,1,0,
> 
> 
> 
> 
> 
> 
> 
> Thank you for your help,
>   Shawn
> 
> _______________________________________________
> Dev mailing list    Dev at ensembl.org
> Posting guidelines and subscribe/unsubscribe info: http://lists.ensembl.org/mailman/listinfo/dev
> Ensembl Blog: http://www.ensembl.info/

-------------- next part --------------
An HTML attachment was scrubbed...
URL: <http://mail.ensembl.org/pipermail/dev_ensembl.org/attachments/20180116/12f9b5b7/attachment.html>


More information about the Dev mailing list