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F7

Synonyms
SPCA
External resources
Summary
This gene encodes coagulation factor VII which is a vitamin K-dependent factor essential for hemostasis. This factor circulates in the blood in a zymogen form, and is converted to an active form by either factor IXa, factor Xa, factor XIIa, or thrombin by minor proteolysis. Upon activation of the factor VII, a heavy chain containing a catalytic domain and a light chain containing 2 EGF-like domains are generated, and two chains are held together by a disulfide bond. In the presence of factor III and calcium ions, the activated factor then further activates the coagulation cascade by converting factor IX to factor IXa and/or factor X to factor Xa. Defects in this gene can cause coagulopathy. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar proteolytic processing to generate mature polypeptides.

Variant counts

Variant classification counts according to ACMG guideline on all identified variants among our tested samples are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
41
Likely pathogenic
13
VUS
1,848
Likely benign
298
Benign
13

Patient phenotypes

Proportions of phenotypes among 54 patients carring pathogenic or likely pathogenic variants on F7 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
59.3%
Abnormality of the nervous system
22.2%
Abnormality of the musculoskeletal system
18.5%
Abnormality of head or neck
14.8%
Abnormality of the ear
14.8%
Abnormality of the genitourinary system
11.1%
Abnormality of the integument
11.1%
Abnormality of the digestive system
9.3%
Abnormality of limbs
5.6%
Abnormality of the cardiovascular system
5.6%
Abnormality of the endocrine system
3.7%
Abnormality of the respiratory system
3.7%
Growth abnormality
3.7%
Abnormality of blood and blood-forming tissues
1.9%
Abnormality of prenatal development or birth
1.9%
Abnormality of the immune system
1.9%
Abnormality of the voice
1.9%
Constitutional symptom
1.9%
Neoplasm
1.9%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%

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