INTS13
Chr 12integrator complex subunit 13
Also known as: ASUN, C12orf11, GCT1, Mat89Bb, NET48, SPATA30
The INTS13 protein is a component of the integrator complex that terminates RNA polymerase II transcription and regulates mitotic processes including centrosome positioning and spindle formation. Mutations cause neurodevelopmental disorders with intellectual disability, developmental delay, and variable features including seizures and brain malformations, following an autosomal dominant inheritance pattern. This gene is highly constrained against loss-of-function variants (pLI = 0.86, LOEUF = 0.35), indicating that haploinsufficiency is likely not tolerated in the general population.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Moderately missense-constrained (top ~2.5%)
ClinVar Variant Classifications
107 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 33 | 0 | 33 |
Likely Pathogenic | 0 | 0 | 1 | 0 | 1 |
VUS | 0 | 52 | 1 | 0 | 53 |
Likely Benign | 0 | 1 | 0 | 1 | 2 |
Benign | 0 | 0 | 1 | 0 | 1 |
| Total | 0 | 53 | 36 | 1 | 90 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
INTS13 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
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