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Gene

FOXF1

forkhead box F1

Summary

Cytogenetic location
16q24.1
Coordinates
Chromosome 16: 86,510,527–86,515,422 (GRCh38)
Exons
2 exons across 4.9 kb
Protein
379 amino acids
Inheritance
Autosomal dominant
Also known as
FREAC1
Previous symbols
FKHL5
MANE Select transcript
ENST00000262426.6NM_001451.3
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated report relevant to this gene

  • Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins

    • Autosomal dominant

      Abnormal development of the lung capillaries and veins, caused by FOXF1 variants or deletions, that typically leads to severe breathing failure and high blood pressure in the lungs shortly after birth.

      • 3 GenCC submitters rate it definitive or strong
      What knowing changes

      Knowing is mainly relevant to family planning and to understanding recurrence risk in a future pregnancy.

Inheritance

Autosomal dominant
One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.

How FOXF1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
Chromosome 16, with a bracket where FOXF1 sits. FOXF1 and 3 genes near it on chromosome 16, from 86,012,975 to 87,012,974.Chromosome 1616q24.1p13.3p13.2p13.13p13.12p13.11p12.3p12.2p12.1p11.2p11.1q11.1q11.2q12.1q12.2q13q21q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.386.2 Mb86.4 Mb86.6 Mb86.8 Mb87 MbFOXF1: 86,510,527–86,515,422, forward strandFOXF1MTHFSD: 86,530,178–86,555,235, reverse strandMTHFSDFOXC2: 86,566,829–86,569,728, forward strandFOXC2FOXL1: 86,576,340–86,583,478, forward strandFOXL1Diagram of FOXF1: 2 exons on the forward strand of chromosome 16Exon 1: 30 known disease-causing sitesExon 2: 2 known disease-causing sitesExon 1: 86,510,527–86,511,548, 1,022 basesExon 2: 86,512,925–86,515,422, 2,498 bases125′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 3.5 kb of the gene's 4.9 kb; 1,140 of those bases code for the protein.

How a genome test reads FOXF1

32

positions in FOXF1 where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 4.9 kb of FOXF1, introns included, not only the 3.5 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). FOXF1 gene: forkhead box F1. Retrieved 16 October 2026, from https://dantelabs.com/genes/foxf1

Vancouver

Dante Labs. FOXF1 gene: forkhead box F1 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/foxf1

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