AbSplice web interface

Enter variant(s):

You can submit up to 3 variants at once, one per line, in one of the following formats (the chr prefix is optional, examples for hg38):

chr3:152269093:G>A
chr8-140300616-T-G
chr17 10631737 C GT
                

Genome version: hg19 hg38

Advanced settings

NEW! The web interface was updated to run AbSplice 2 with an option of predicting variant effects across developmental stages. See AbSplice 2 preprint.

This website provides an interface for running AbSplice 2 on arbitrary variants. AbSplice is a method that predicts aberrant splicing across human tissues (Wagner, Çelik et al., Nature Genetics 2023) based on enhanced tissue-specific splice site annotations (SpliceMaps). The scores represent the probability that a given variant causes aberrant splicing in a given tissue.

Please also check our GitHub repository. Do not hesitate to ask questions and report any bugs in the Issues section on GitHub.

Precomputed AbSplice-DNA scores for all possible single-nucleotide variants genome-wide are available here (hg38) and here (hg19) for download.

The web interface was developed by Aleksandr Neverov under the supervision of Nils Wagner, Dr. Christian Mertes, Dr. Vicente Yepez and Prof. Dr. Julien Gagneur at Gagneur Lab