Gene
F7
coagulation factor VII
- HGNC 3544↗(opens in a new tab)
- Ensembl gene ENSG00000057593↗(opens in a new tab)
- NCBI Gene 2155↗(opens in a new tab)
Summary
- Cytogenetic location
- 13q34
- Coordinates
- Chromosome 13: 113,105,791–113,120,685 (GRCh38)
- Exons
- 8 exons across 14.9 kb
- Protein
- 444 amino acids
- MANE Select transcript
- ENST00000346342.8NM_019616.4
- Locus type
- Protein-coding
- Very high
- Confident
- Low
- Very low
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Rare Inherited Coagulation Factor Deficiencies
- Factor VII DeficiencyAutosomal recessive
A deficiency of clotting factor VII, mainly caused by changes in F7; bleeding severity varies widely and does not always match factor levels.
- ClinGen rates the link definitive
- 5 GenCC submitters rate it definitive or strong
▶Actionability
Results help plan treatment, such as recombinant factor VIIa, for surgery and childbirth.
- Congenital Vitamin K-Dependent Coagulation Factor DeficienciesAutosomal recessive
Inherited deficiencies of prothrombin (factor II), factor VII or factor X, or of all vitamin K-dependent factors together (caused by changes in GGCX or VKORC1), which can cause nosebleeds, easy bruising and bleeding after injury, surgery or childbirth.
- 4 GenCC submitters rate it definitive or strong
▶Actionability
Knowing in advance allows factor replacement to be planned around surgery and childbirth; the combined form often responds to vitamin K.
How F7 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
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 3.1 kb of the gene's 14.9 kb; 1,335 of those bases code for the protein.
Sequencing F7
5Low
How hard F7 is to sequence with short reads, out of 100Each bar is the share of F7's exon bases in that kind of difficult region. The score weighs them by how much each costs a short-read call: 0 when no base is in any, 100 when every base is in all of them.
- MappabilityStretches where 100 or 250 bp reads cannot be placed uniquely, so a call there may be missing or wrong. Weight 35%.0.4%
- HomologySegmental duplications: copies elsewhere in the genome, such as paralogues and pseudogenes, at 90% identity or more. Weight 30%.0%
- RepeatsTandem repeats and runs of one base, which reads slip on and may not span. Weight 15%.18%
- GC contentWindows under 25% or over 65% G and C, which library preparation covers thinly. Weight 10%.18%
- Reference coverageGaps in the reference assembly nearby, where there is no sequence for reads to align to. Weight 10%.0%
68
positions in F7 where ClinVar classes a change as pathogenic or likely pathogenic
4 of them (5.9%) fall in regions short reads find hard.
- Low mappabilityRegions where 100 bp or 250 bp reads cannot be placed uniquely. (4 sites)
A whole genome covers all 14.9 kb of F7, introns included, not only the 3.1 kb of exons.
Genes linked to the same conditions
Traits linked to F7
The Human Phenotype Ontology lists these as features of the rare conditions F7 can cause. Each trait's page lists the other genes linked to it.
External links
Gene records
Transcript
Protein
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 2026-10-17: 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 Genome in a Bottle genome stratifications, from NIST: the sequencing difficulty score.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.17-8666dff2.
Cite this page
Dante Labs. (n.d.). F7 gene: coagulation factor VII. Retrieved 17 October 2026, from https://dantelabs.com/genes/f7
Dante Labs. F7 gene: coagulation factor VII [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/f7
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