C9ORF78
Chr 9chromosome 9 open reading frame 78
Also known as: CSU2, HCA59, HSPC220, TLS1, bA409K20.3
The C9ORF78 protein binds U5 snRNA and regulates pre-mRNA splicing by promoting upstream 3'-splice site usage at alternative NAGNAG sites and modulating spliceosomal remodeling through interactions with SNRNP200, while also being required for proper chromosome segregation. The gene shows tolerance to loss-of-function variants (pLI = 0.000019, LOEUF = 1.004), and no human disease associations have been established for C9ORF78 mutations.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
C9ORF78 · 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