KANSL1L
Chr 2KAT8 regulatory NSL complex subunit 1 like
Also known as: C2orf67, MSL1v2
The protein is predicted to bind histone acetyltransferases and participate in the NSL complex, which regulates gene expression through chromatin modification. This gene is highly constrained against loss-of-function variants (LOEUF 0.352), suggesting that mutations would likely cause significant developmental effects, though specific disease associations have not yet been established in humans.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% 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
KANSL1L · 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 open access results found
External Resources
Links to major genomics databases and tools