AbSplice2

Tissue-specific contextual filter estimating the probability of aberrant splicing events.

Key Info

• URL: https://absplice.cmm.cit.tum.de
• Category: Splicing
• API: Yes
• Free: Free
• ACMG Relevance: PP3

Why It Matters

Integrates developmental timing parameters to identify splicing-disruptive effects confined exclusively to early embryonic neurodevelopment.

How to Use

See https://absplice.cmm.cit.tum.de for documentation and access.

STRC Research Usage

Not directly applicable to E1659A via API. Requires local installation or web interface. See documentation for manual usage.

Next Steps

• Test with STRC E1659A variant
• Verify API access
• Document specific results

Connections

• STRC Variant c.4976A>C — Misha [see-also]
• STRC Gene [about]