FOXM1

Chr 12

forkhead box M1

Also known as: FKHL16, FOXM1A, FOXM1B, FOXM1C, HFH-11, HFH11, HNF-3, INS-1

FOXM1 encodes a transcription factor that regulates expression of cell cycle genes essential for DNA replication and mitosis, and participates in DNA damage checkpoint responses. The gene is highly constrained against loss-of-function variants (LOEUF 0.59), but specific disease associations with FOXM1 mutations have not been established in the provided data. Additional clinical and genetic evidence would be needed to determine disease phenotypes and inheritance patterns associated with this gene.

Summary from RefSeq, UniProt
Research Assistant →
3
Active trials
312
Pubs (1 yr)
0
P/LP submissions
P/LP missense
0.59
LOEUF
DN
Mechanism· predicted
Clinical SummaryFOXM1
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
💊
Clinical Trials
3 active or recruiting trials — potential therapeutic options may be available
Some data sources returned errors (1)

pubtator: TimeoutError: The operation was aborted due to timeout

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Moderate LoF intolerance
LoF Constraint
0.59LOEUF
pLI 0.001
Z-score 3.30
OE 0.36 (0.220.59)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint
0.71Z-score
OE missense 0.91 (0.830.98)
407 obs / 449.1 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.36 (0.220.59)
00.351.4
Missense OE0.91 (0.830.98)
00.61.4
Synonymous OE1.04
01.21.6
LoF obs/exp: 11 / 30.8Missense obs/exp: 407 / 449.1Syn Z: -0.39
DN
0.6551th %ile
GOF
0.3392th %ile
LOF
0.4528th %ile

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

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

FOXM1 · protein map & ClinVar variants

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

Clinical Literature
Open Research Assistant →