POU5F1B

Chr 8

POU class 5 homeobox 1B

Also known as: OCT4-PG1, OCT4PG1, OTF3C, OTF3P1, POU5F1P1, POU5F1P4, POU5FLC20, POU5FLC8

NCBI Gene: 5462ENSG00000212993UniProt: Q06416

This intronless gene was thought to be a transcribed pseudogene of POU class 5 homeobox 1, however, it has been reported that this gene can encode a functional protein. The encoded protein is nearly the same length as and highly similar to the POU class 5 homeobox 1 transcription factor, has been shown to be a weak transcriptional activator and may play a role in carcinogenesis and eye development. [provided by RefSeq, Apr 2009]

Research Assistant →
0
Active trials
3
Pubs (1 yr)
55
P/LP submissions
0%
P/LP missense
1.85
LOEUF
DN
Mechanism· predicted
Clinical Summary— POU5F1B
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
55 unique Pathogenic / Likely Pathogenic· 54 VUS of 110 total submissions
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
1.85LOEUF
pLI 0.000
Z-score -0.19
OE 1.10 (0.56–1.85)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
-0.36Z-score
OE missense 1.07 (0.96–1.20)
205 obs / 191.2 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios
LoF OE1.10 (0.56–1.85)
0≤0.351.4
Missense OE1.07 (0.96–1.20)
0≤0.61.4
Synonymous OE1.12
0≤1.21.6
LoF obs/exp: 5 / 4.6Missense obs/exp: 205 / 191.2Syn Z: -0.88
DN
0.6552th %ile
GOF
0.4677th %ile
LOF
0.54top 25%

The highest-scoring mechanism for this gene is dominant-negative.

DNprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

110 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic54
Likely Pathogenic1
VUS54
Likely Benign1
54
Pathogenic
1
Likely Pathogenic
54
VUS
1
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
54
0
54
Likely Pathogenic
0
0
1
0
1
VUS
0
54
0
0
54
Likely Benign
0
0
0
1
1
Benign
0
0
0
0
0
Total054551110

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

POU5F1B · 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.

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Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 5 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

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