PIBF1

Chr 13AR

progesterone immunomodulatory binding factor 1

NCBI Gene: 10464ENSG00000083535UniProt: Q8WXW3

Plays a role in ciliogenesis

Primary Disease Associations & Inheritance

Joubert syndrome 33MIM #617767
AR
335
ClinVar variants
0
Pathogenic / LP
0.00
pLI score
0
Active trials
Clinical Summary— PIBF1
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
335 total variants — no pathogenic classifications of 335 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
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.
0.72LOEUF
pLI 0.000
Z-score 3.16
OE 0.52 (0.38–0.72)
Tolerant

Typical tolerance to LoF variation

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.
-0.46Z-score
OE missense 1.07 (0.98–1.16)
392 obs / 367.4 exp
Tolerant

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.0.52 (0.38–0.72)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.1.07 (0.98–1.16)
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.1.09
0≤1.21.6
LoF obs/exp: 26 / 50.2Missense obs/exp: 392 / 367.4Syn Z: -0.81

ClinVar Variant Classifications

335 submitted variants in ClinVar

ClinVar

Classification Summary

Protein Context — Lollipop Plot

PIBF1 · protein map & ClinVar variants

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

Gene2Phenotype Curations

PIBF1-related Joubert syndrome

definitive
ARLoss Of FunctionAbsent Gene Product
Dev. Disorders
G2P ↗

Gene2Phenotype curations · DECIPHER consortium patient cohort (public variants) · deciphergenomics.org

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM

Joubert syndrome 33

MIM #617767

Molecular basis of disorder known

Autosomal recessive
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Decreased PIBF1/IL6/p-STAT3 during the mid-secretory phase inhibits human endometrial stromal cell proliferation and decidualization.
Zhou M et al.·J Adv Res
2020
Characterization of cis-regulatory elements and functional variants in colorectal cancer using epigenomics and CRISPRi screenings.
Lu Z et al.·Nat Cancer
2025Functional
PIBF1 expression and survival outcome in TNBC and Non-TNBC breast cancer patients with lymph node metastasis who undertaken chemotherapy.
Shin E et al.·Sci Rep
2025Cohort
Proteome Analysis of Temporomandibular Joint with Disc Displacement.
Liu X et al.·J Dent Res
2022
MicroRNA-203 suppresses gastric cancer growth by targeting PIBF1/Akt signaling.
Chu SJ et al.·J Exp Clin Cancer Res
2016
Identification of two novel pathogenic variants of PIBF1 by whole exome sequencing in a 2-year-old boy with Joubert syndrome.
Shen Y et al.·BMC Med Genet
2020Case report
A case series of joubert syndrome evaluated with whole exome sequencing and the utility of optical genome mapping in the diagnosis.
Kiraz A et al.·Neurogenetics
2025Cohort
A biallelic 36-bp insertion in PIBF1 is associated with Joubert syndrome.
Hebbar M et al.·J Hum Genet
2018Case report
Subtype-specific gout susceptibility loci and enrichment of selection pressure on ABCG2 and ALDH2 identified by subtype genome-wide meta-analyses of clinically defined gout patients.
Nakayama A et al.·Ann Rheum Dis
2020Meta-analysis
Uncovering Clinically Relevant Gene Fusions with Integrated Genomic and Transcriptomic Profiling of Metastatic Cancers.
Tsang ES et al.·Clin Cancer Res
2021
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

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