Ensembl is currently experiencing issues
The Ensembl REST API is temporarily unavailable. Some gene data (transcript details, protein domains) may be incomplete. Other data sources are unaffected.
You can check Ensembl's status at status.ensembl.org
ASAP1-IT1
Chr 8ASAP1 intronic transcript 1
Also known as: ASAP1-IT, ASAP1IT, ASAP1IT1, DDEF1IT1, HSPC054, NCRNA00050
I cannot provide a clinical summary for ASAP1-IT1 as no information about this gene's protein function, associated diseases, or inheritance pattern was provided in the data below the instructions. To write an accurate clinical summary, I would need specific information about what protein this gene encodes, what neurological conditions result from mutations, and the inheritance pattern observed in affected families.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/ASAP1-IT1?content-type=application/json&expand=1
gnomad: Error: Gene not found
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
ASAP1-IT1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools