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FNBP4

Synonyms
FBP30
External resources
Summary
This gene encodes a protein containing two tryptophan-rich WW domains that binds the proline-rich formin homology 1 domains of formin family proteins, suggesting a role in the regulation of cytoskeletal dynamics during cell division and migration. It also binds intersectin family proteins suggesting a role in the maintenance of membrane curvature at sites of nascent vesicle formation. Naturally occurring mutations in this gene are associated with Waardenburg anophthalmia syndrome.

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
4
Likely pathogenic
5
VUS
5,347
Likely benign
1,535
Benign
0

Patient phenotypes

Proportions of phenotypes among 9 patients carring pathogenic or likely pathogenic variants on FNBP4 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the digestive system
44.4%
Abnormality of the musculoskeletal system
33.3%
Abnormality of the nervous system
33.3%
Abnormality of the eye
22.2%
Neoplasm
22.2%
Abnormality of head or neck
11.1%
Abnormality of the cardiovascular system
11.1%
Abnormality of the immune system
11.1%
Growth abnormality
11.1%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of limbs
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the ear
0%
Abnormality of the endocrine system
0%
Abnormality of the genitourinary system
0%
Abnormality of the integument
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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