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ZNF717

Synonyms
OB1, X17, ZNF838
External resources
Summary
This gene encodes a Kruppel-associated box (KRAB) zinc-finger protein, which belongs to a large group of transcriptional regulators in mammals. These proteins bind nucleic acids and play important roles in various cellular functions, including cell proliferation, differentiation and apoptosis, and in regulating viral replication and transcription. A pseudogene of this gene was identified on chromosome 1.

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
86,446
Likely pathogenic
8,432
VUS
1,095,305
Likely benign
37,221
Benign
0

Patient phenotypes

Proportions of phenotypes among 7813 patients carring pathogenic or likely pathogenic variants on ZNF717 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
40.6%
Abnormality of the musculoskeletal system
29.6%
Abnormality of the eye
27.5%
Abnormality of head or neck
23%
Abnormality of the cardiovascular system
20.1%
Abnormality of the ear
14.6%
Growth abnormality
13.5%
Abnormality of the integument
11.4%
Abnormality of limbs
11%
Abnormality of the genitourinary system
10.7%
Abnormality of the digestive system
7.9%
Abnormality of the immune system
6.4%
Abnormality of the endocrine system
4.1%
Abnormality of blood and blood-forming tissues
3.9%
Abnormality of the respiratory system
3.8%
Abnormality of prenatal development or birth
3%
Neoplasm
2.9%
Constitutional symptom
1.4%
Abnormal cellular phenotype
0.7%
Abnormality of the breast
0.7%
Abnormality of the voice
0.5%
Abnormality of the thoracic cavity
0%
Abnormality of metabolism homeostasis
0%

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