POU1F1

Chr 3

POU class 1 homeobox 1

Also known as: CPHD1, GHF-1, PIT1, POU1F1a, Pit-1

NCBI Gene: 5449ENSG00000064835UniProt: P28069

This gene encodes a member of the POU family of transcription factors that regulate mammalian development. The protein regulates expression of several genes involved in pituitary development and hormone expression. Mutations in this genes result in combined pituitary hormone deficiency. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtPituitary hormone deficiency, combined, 1

Clinical highlights

Interpreting a novel variant
Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.
0
Active trials
30
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.68
LOEUF
LOF
Mechanism· G2P
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GeneReview available — POU1F1
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Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.68LOEUF
pLI 0.045
Z-score 2.46
OE 0.32 (0.17–0.68)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.46Z-score
OE missense 0.90 (0.79–1.03)
149 obs / 165.6 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.32 (0.17–0.68)
0≤0.351.4
Missense OE?0.90 (0.79–1.03)
0≤0.61.4
Synonymous OE?1.09
0≤1.21.6
LoF obs/exp: 5 / 15.4Missense obs/exp: 149 / 165.6Syn Z: -0.53

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

POU1F1 · 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