PRAC1
Chr 17PRAC1 small nuclear protein
Also known as: C17orf92, PRAC
This gene is reported to be specifically expressed in prostate, rectum and distal colon. Sequence analysis suggests that it may play a regulatory role in the nucleus. [provided by RefSeq, Jul 2008]
Clinical Summary— PRAC1
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Population Constraint (gnomAD)
Low constraint (pLI 0.02) — loss-of-function variants are relatively tolerated in the population.
Some data sources returned errors (1)
ensembl: TimeoutError: The operation was aborted due to timeout
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Tolerant — LoF & missense variants common in population
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
1.93LOEUF
pLI 0.016
Z-score -0.62
OE 1.59 (0.48–1.93)
Highly tolerant — LoF variants common in population
Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
-0.33Z-score
OE missense 1.18 (0.89–1.59)
31 obs / 26.3 exp
Tolerant to missense variation
Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.1.59 (0.48–1.93)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.1.18 (0.89–1.59)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.0.94
0≤1.21.6
LoF obs/exp: 2 / 1.3Missense obs/exp: 31 / 26.3Syn Z: 0.15
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
PRAC1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
OMIM — Genotype-Phenotype Relationships
1 OMIM entry
PRAC1 SMALL NUCLEAR PROTEIN; PRAC1
MIM #609819 · *
External Resources
Links to major genomics databases and tools
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
Prenatal EDC exposure, DNA Methylation, and early childhood growth: A prospective birth cohort study.
Lv Y et al.·Environ Int
2024Cohort
Inflammation-associated DNA methylation patterns in epithelium of ulcerative colitis.
Barnicle A et al.·Epigenetics
2017
Targeting tumor-infiltrating regulatory T cells: combining CD47 and PD-L1 inhibition via a novel aptamer-siRNA chimera.
Zeng Y et al.·Mol Biomed
2025
Identifying important microbial and genomic biomarkers for differentiating right- versus left-sided colorectal cancer using random forest models.
Kolisnik T et al.·BMC Cancer
2023Functional
Specific Detection of Prostate Cancer Cells in Urine by RNA In Situ Hybridization.
Eskra JN et al.·J Urol
2021
A novel method for detection of exfoliated prostate cancer cells in urine by RNA in situ hybridization.
Eskra JN et al.·Prostate Cancer Prostatic Dis
2021
Multi-omics Approach Reveals Distinct Differences in Left- and Right-Sided Colon Cancer.
Hu W et al.·Mol Cancer Res
2018
Discovering the molecular differences between right- and left-sided colon cancer using machine learning methods.
Jiang Y et al.·BMC Cancer
2020
Isolation and functional interrogation of adult human prostate epithelial stem cells at single cell resolution.
Hu WY et al.·Stem Cell Res
2017Functional
Cyclic stretch induced-retinal pigment epithelial cell apoptosis and cytokine changes.
Wu S et al.·BMC Ophthalmol
2017
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
No open access results found
Top 5 resultsSearch Europe PMC ↗
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
Machine-learning-based determination of sex-related bladder cancer biomarkers
Pizzi JR et al.·bioRxiv
2025
Confounder-Adjusted Differentiation of Colorectal Cancer via Dynamic Propagation of Pathway Influence.
Batrancea LM et al.·Int J Mol Sci
2025
Identification of coding region SNPs from specific and sensitive mRNA biomarkers for the deconvolution of the semen donor in a body fluid mixture.
Liu J et al.·Forensic Sci Int Genet
2021
Altered expression of TEF gene in childhood constipation leads to a decrease in CD56+ NK cells.
Wang Y et al.·Am J Transl Res
2025
ImmuneScore of eight-gene signature predicts prognosis and survival in patients with endometrial cancer
Gu J et al.·Front Oncol
2023Cohort
Top 5 full-text resultsSearch PubTator3 ↗
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