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FRMD4A

Synonyms
CCAFCA, FRMD4, bA295P9.4
External resources
Summary
This gene encodes a FERM domain-containing protein that regulates epithelial cell polarity. It connects ADP ribosylation factor 6 (ARF6) with the Par protein complex, which regulates the remodeling of adherens junctions and linear actin cable formation during epithelial cell polarization. Polymorphisms in this gene are associated with Alzheimer's disease, and also with nicotine dependence. Alternative splicing results in multiple transcript variants.

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
60
Likely pathogenic
0
VUS
15,800
Likely benign
7,603
Benign
206

Patient Phenotypes

Proportions of phenotypes among 57 patients carrying pathogenic or likely pathogenic variants on FRMD4A gene are displayed below. The following symptoms were found in patients with a variant in FRMD4A. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
45.6%
Abnormality of the eye
29.8%
Abnormality of the musculoskeletal system
28.1%
Abnormality of head or neck
17.5%
Abnormality of the ear
17.5%
Abnormality of the cardiovascular system
14%
Abnormality of the genitourinary system
14%
Abnormality of limbs
7%
Abnormality of metabolism homeostasis
7%
Abnormality of the integument
7%
Growth abnormality
7%
Abnormality of blood and blood forming tissues
3.5%
Abnormality of prenatal development or birth
3.5%
Abnormality of the endocrine system
3.5%
Abnormality of the digestive system
1.8%
Abnormality of the immune system
1.8%
Constitutional symptom
1.8%
Abnormal cellular phenotype
0%
Abnormality of the breast
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Neoplasm
0%

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