INTS12

Chr 4

integrator complex subunit 12

Also known as: INT12, PHF22, SBBI22

NCBI Gene: 57117ENSG00000138785UniProt: Q96CB8OMIM: 611355

INTS12 is a subunit of the Integrator complex, which associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM 180680) and U2 (RNU2; MIM 180690) (Baillat et al., 2005 [PubMed 16239144]).[supplied by OMIM, Mar 2008]

OMIMResearchGenerating 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
3
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.44
LOEUF
LOF
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?
0.44LOEUF
pLI 0.754
Z-score 3.25
OE 0.17 (0.08–0.44)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
1.35Z-score
OE missense 0.75 (0.67–0.85)
178 obs / 236.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.17 (0.08–0.44)
0≤0.351.4
Missense OE?0.75 (0.67–0.85)
0≤0.61.4
Synonymous OE?1.16
0≤1.21.6
LoF obs/exp: 3 / 17.8Missense obs/exp: 178 / 236.3Syn Z: -1.19

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

INTS12 · 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