Why snpEff annotates same region with different "effects" and why some effects are given in combination? What is the criteria to filter this annotation?
0
0
Entering edit mode
3.9 years ago
svp ▴ 680

snpEff annotates same region for different effects. But how does it make a combination of prediction within the same transcript as follows:

frameshift_variant&start_lost&initiator_codon_variant&non_canonical_start_codon
frameshift_variant&stop_retained_variant
splice_donor_variant&missense_variant&splice_region_variant&intron_variant
frameshift_variant&initiator_codon_variant&non_canonical_start_codon
splice_donor_variant&missense_variant&disruptive_inframe_deletion&splice_region_variant&intron_variant

For example transcript enst1234 is enriched with splice_donor_variant&missense_variant&disruptive_inframe_deletion&splice_region_variant&intron_variant. How this is been done. How can I filter the variants from this combination as this is given as one effect

snpEff VEP VariantAnnotation Exome VCF • 1.1k views
ADD COMMENT
0
Entering edit mode

well, if the variant is a deletion overlapping a splice junction, it fulfills all the conditions above.

ADD REPLY
0
Entering edit mode

How can I filter single effect when multiple effects are given in combination. What is actual criteria for giving combination of effect as one effect?

ADD REPLY
0
Entering edit mode

I don't think you can do this. There should be a one and only term to define this in gene_ontology) . I think it's more a problem on your side (how to grep for a consequence with multiple terms) than finding the right term in SO.

ADD REPLY
0
Entering edit mode

I did not get your point. Can you give me an example with following data to identify correct SO term

splice_donor_variant&missense_variant&disruptive_inframe_deletion&splice_region_variant&intron_variant

For above enriched term, what is the single SO term?

ADD REPLY

Login before adding your answer.

Traffic: 2463 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