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ZFHX3

Synonyms
ATBF1, ATBT, C16orf47, ZFH-3, ZNF927
External resources
Summary
This gene encodes a transcription factor with multiple homeodomains and zinc finger motifs, and regulates myogenic and neuronal differentiation. The encoded protein suppresses expression of the alpha-fetoprotein gene by binding to an AT-rich enhancer motif. The protein has also been shown to negatively regulate c-Myb, and transactivate the cell cycle inhibitor cyclin-dependent kinase inhibitor 1A (also known as p21CIP1). This gene is reported to function as a tumor suppressor in several cancers, and sequence variants of this gene are also associated with atrial fibrillation. Multiple transcript variants expressed from alternate promoters and encoding different isoforms have been found for this gene.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
11
Likely pathogenic
1
VUS
7,349
Likely benign
20,310
Benign
16,098

Patient phenotypes

Proportions of phenotypes among 10 patients carrying pathogenic or likely pathogenic variants on ZFHX3 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the ear
30%
Abnormality of the nervous system
30%
Abnormality of head or neck
20%
Abnormality of the eye
20%
Abnormality of the genitourinary system
20%
Abnormality of the musculoskeletal system
20%
Abnormality of limbs
10%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the cardiovascular system
0%
Abnormality of the digestive system
0%
Abnormality of the endocrine system
0%
Abnormality of the immune 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%
Growth abnormality
0%
Neoplasm
0%

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