INTS3

Chr 1

integrator complex subunit 3

Also known as: C1orf193, C1orf60, INT3, SOSS-A, SOSSA

NCBI Gene: 65123ENSG00000143624UniProt: Q68E01

The protein encoded by this gene can form a complex with human single-strand DNA binding proteins 1 or 2 (hSSB1 and hSSB2) and other proteins to mediate genome stability and the DNA damage response. The encoded protein is also part of a multiprotein complex that interacts with the C-terminal domain of RNA polymerase II large subunit to help regulate processing of U1 and U2 small nuclear RNAs. [provided by RefSeq, May 2016]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.
0
Active trials
2
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.25
LOEUF· LoF intol.
LOF
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Dual constrained — LoF & missense intolerant
LoF Constraint?
0.25LOEUF
pLI 1.000
Z-score 6.48
OE 0.15 (0.09–0.25)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint?
4.41Z-score
OE missense 0.49 (0.45–0.54)
293 obs / 596.4 exp
Constrained

Highly missense-constrained (top ~0.1%)

Observed / Expected Ratios?
LoF OE?0.15 (0.09–0.25)
0≤0.351.4
Missense OE?0.49 (0.45–0.54)
0≤0.61.4
Synonymous OE?0.91
0≤1.21.6
LoF obs/exp: 10 / 67.5Missense obs/exp: 293 / 596.4Syn Z: 1.07

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

INTS3 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients