Gene summary
Transcript used for the screen, High/Moderate counts, interior spliceogenic burden, and max Atlas score.
In Silico Hotspot Map · v1.0
Deep-intronic splice hotspot browser
Search disease-associated genes for deep-intronic intervals enriched for spliceogenic single-nucleotide substitutions scored by AlphaGenome. Intervals are ranked by Benjamini–Hochberg q-value.
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genes screened
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interior intervals
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spliceogenic variants in intron interiors
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assembly · transcript source
Interval table
Every deep-intronic significant interval with GRCh38 coordinates, BH q-value, spliceogenic count, and concentration. Sorted by lowest q.
Intron view
Inline SVG of the selected interval against the scored RefSeq transcript, with spliceogenic variants as lollipops.
Download
On a gene page, download that gene’s intervals CSV only. The complete atlas (summary tables, OMIM gene list, merged intron BED/TSV, and per-chromosome archives with tables and PNG plots) is on Zenodo:
Cite
Saei H, et al. Mapping deep intronic mutational hotspots by in silico mutagenesis enables single antisense oligonucleotide correction of multiple variants. Preprint: https://doi.org/10.64898/2026.09.10.26362533
ISHMap genome-wide atlas: https://doi.org/10.5281/zenodo.24167125
ISHMap browser v1.0 (built —). https://hassansaei.github.io/Saei_deep_intronic_hotspots/