$ loading_
Query missense tolerance, domain annotations, and constrained regions in human transcripts.
Copy the install command and let the AI configure it · recommended for beginners
No copy-paste install info for "metadome-link" yet — see the docs or source repo.
Resolve human transcripts for the BRCA1 gene and return the most relevant transcript's per-residue missense tolerance overview, Pfam domain annotations, and clearly constrained regions.
Returns candidate transcripts with a tolerance summary, highlighting domain locations and low-tolerance constrained segments.
I am investigating a missense variant in a TP53 transcript. Provide the tolerance landscape around the residue, the corresponding Pfam domain information, and variant count context for that region to help assess functional constraint.
Outputs local tolerance and variant density information and indicates whether the site lies in a functionally constrained region.
For the main human transcript of SCN2A, identify the continuous segments with the lowest missense tolerance, list their coordinates and Pfam domain assignments, and rank them by potential functional importance.
Provides a ranked list of constrained segments with coordinates and matching domain annotations.
Search, map, and analyze non-coding RNA sequences from RNAcentral.
Query gene variant annotations and related data for research and analysis.
Query genes, sequences, variant effects, orthologs, and annotations via Ensembl.
Run AlphaFold3 protein predictions, variant batches, and job monitoring via Docker.
Query ClinGen evidence for gene-disease validity, dosage, actionability, and variant pathogenicity.
Search NCBI genome and taxonomy data, then download packages in chat.