Confusion about transcript ablation
0
0
Entering edit mode
8 months ago
Heiha • 0

I'm analyzing the WES data of a patient, after calling variants by GATK, I use Ensembl Variant Effect Predictor (VEP) to annotate my vcf file.

Here is one record from the output file:

#Uploaded_variation     Location        Allele  Gene    Feature    Feature_type    Consequence     cDNA_position   CDS_position       Protein_position        Amino_acids     Codons     Existing_variation      Extra
chr11_64341844_GTTGTGGTCTGAGGTCTTGGGCCATCAGTGATGTCACAACCAGATGGCCCAAGACCCCAGACCACAACCCCATGTCTGGT/-      chr11:64341844-64341923-       ENSG00000278359 ENST00000615925 Transcript      transcript_ablation-       -       -       -       -       IMPACT=HIGH;STRAND=-1;SOURCE=Ensembl;GIVEN_REF=GTTGTGGTCTGAGGTCTTGGGCCATCAGTGATGTCACAACCAGATGGCCCAAGACCCCAGACCACAACCCCATGTCTGGT;USED_REF=GTTGTGGTCTGAGGTCTTGGGCCATCAGTGATGTCACAACCAGATGGCCCAAGACCCCAGACCACAACCCCATGTCTGGT

You can see, it says, chr11:64341844-64341923, there is a transcript ablation, and its impact is __HIGH__.

On Esembl's website, it says:

transcript ablation: A feature ablation whereby the deleted region includes a transcript feature

But, when I use Integrative Genomics Viewer to view this region, everything seems OK there.

enter image description here

I'm unsure if this is a false alarm or if I misunderstood the term.

For any help, thanks in advance.

Appendix:

Note: I use hg38 as reference genome through all of my work.

The header of VEP output:

## ENSEMBL VARIANT EFFECT PREDICTOR v110.1
## Output produced at 2023-08-22 10:55:53
## Connected to homo_sapiens_core_110_38 on ensembldb.ensembl.org
## Using cache in ~/.vep/homo_sapiens_merged/110_GRCh38
## Using API version 110, DB version 110
## ensembl version 110.584a8f3
## ensembl-variation version 110.d34d25e
## ensembl-io version 110.b1a0d57
## ensembl-funcgen version 110.24e6da6
## HGMD-PUBLIC version 20204
## sift version 6.2.1
## 1000genomes version phase3
## refseq version 110 - GCF_000001405.40_GRCh38.p14_genomic.gff
## COSMIC version 97
## ClinVar version 202301
## regbuild version 1.0
## genebuild version 2014-07
## dbSNP version 154
## assembly version GRCh38.p14
## gnomADg version v3.1.2
## gencode version GENCODE 44
## gnomADe version r2.1.1
## polyphen version 2.2.3
## Column descriptions:
## Uploaded_variation : Identifier of uploaded variant
## Location : Location of variant in standard coordinate format (chr:start or chr:start-end)
## Allele : The variant allele used to calculate the consequence
## Gene : Stable ID of affected gene
## Feature : Stable ID of feature
## Feature_type : Type of feature - Transcript, RegulatoryFeature or MotifFeature
## Consequence : Consequence type
## cDNA_position : Relative position of base pair in cDNA sequence
## CDS_position : Relative position of base pair in coding sequence
## Protein_position : Relative position of amino acid in protein
## Amino_acids : Reference and variant amino acids
## Codons : Reference and variant codon sequence
## Existing_variation : Identifier(s) of co-located known variants
## Extra column keys:
## IMPACT : Subjective impact classification of consequence type
## DISTANCE : Shortest distance from variant to transcript
## STRAND : Strand of the feature (1/-1)
## FLAGS : Transcript quality flags
## REFSEQ_MATCH : RefSeq transcript match status
## SOURCE : Source of transcript
## REFSEQ_OFFSET : HGVS adjustment length required due to mismatch between RefSeq transcript and the reference genome
## GIVEN_REF : Reference allele from input
## USED_REF : Reference allele as used to get consequences
## BAM_EDIT : Indicates success or failure of edit using BAM file
## CHECK_REF : Reports variants where the input reference does not match the expected reference
## REVEL : Rare Exome Variant Ensemble Learner
## CADD_PHRED : PHRED-like scaled CADD score. CADD is only available here for non-commercial use. See CADD website for more information.
## CADD_RAW : Raw CADD score. CADD is only available here for non-commercial use. See CADD website for more information.
Ensembl Variation VEP • 756 views
ADD COMMENT
0
Entering edit mode

Is it just one allele affected?

ADD REPLY
0
Entering edit mode

I would advise running the variant through the Ensembl VEP web interface tool: https://www.ensembl.org/Tools/VEP

From the results page, you can click on the genomic coordinates to navigate towards the Ensembl region view, which will automatically contain a 'VEP result' track. You can examine this view to see which transcript is affected and how the deletion overlaps it.

ADD REPLY

Login before adding your answer.

Traffic: 1686 users visited in the last hour
Help About
FAQ
Access RSS
API
Stats

Use of this site constitutes acceptance of our User Agreement and Privacy Policy.

Powered by the version 2.3.6