PSIP1
Chr 9PC4 and SRSF1 interacting protein 1
Also known as: DFS70, LEDGF, PAIP, PSIP2, p52, p75
PSIP1 encodes a transcriptional coactivator that regulates neuroepithelial stem cell differentiation and neurogenesis, and also functions in pre-mRNA splicing and lens development. Mutations cause autosomal dominant developmental delay with intellectual disability, seizures, and distinctive facial features, with onset in early childhood. This gene is highly constrained against loss-of-function variants in the general population.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Mild missense constraint
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
PSIP1 · 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