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NEDSSBA
Chr 17ARnuclear speckle splicing regulatory protein 1
Also known as: CCDC55, HSPC095, NEDSSBA, NSrp70
The protein enables mRNA binding and regulates alternative mRNA splicing via the spliceosome as part of ribonucleoprotein complexes in nuclear speckles. Biallelic mutations cause a neurodevelopmental disorder with spasticity, seizures, and brain abnormalities with autosomal recessive inheritance. This condition primarily affects the central nervous system with both developmental and epileptic manifestations.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/NEDSSBA?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
NEDSSBA · 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 →No publications found for NEDSSBA
External Resources
Links to major genomics databases and tools