SUPT16H
Chr 14ADSPT16 homolog, facilitates chromatin remodeling subunit
Also known as: CDC68, FACTP140, NEDDFAC, SPT16, SPT16/CDC68
SUPT16H encodes the 140 kDa subunit of the FACT chromatin remodeling complex, which acts as a histone chaperone to facilitate nucleosome disassembly and reassembly during transcription elongation, DNA replication, and repair. Mutations cause autosomal dominant neurodevelopmental disorder with dysmorphic facies and thin corpus callosum. This gene is extremely intolerant to loss-of-function variants (pLI = 1.0, LOEUF = 0.12), indicating high constraint against protein-truncating mutations.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Among the most LoF-intolerant genes (~top 3%)
Extremely missense-constrained (top ~0.01%)
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
SUPT16H · 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