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SNF8

Synonyms
Dot3, EAP30, VPS22
External resources
Summary
The protein encoded by this gene is a component of the endosomal sorting complex required for transport II (ESCRT-II), which regulates the movement of ubiquitinylated transmembrane proteins to the lysosome for degradation. This complex also interacts with the RNA polymerase II elongation factor (ELL) to overcome the repressive effects of ELL on RNA polymerase II activity. Several transcript variants encoding different isoforms have been found for this gene.

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
9
Likely pathogenic
0
VUS
1,769
Likely benign
84
Benign
0

Patient phenotypes

Proportions of phenotypes among 9 patients carring pathogenic or likely pathogenic variants on SNF8 gene are displayed below.

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

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