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ASB16

Synonyms
-
External resources
Summary
The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and a SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation.

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
34
Likely pathogenic
119
VUS
1,283
Likely benign
206
Benign
0

Patient phenotypes

Proportions of phenotypes among 153 patients carring pathogenic or likely pathogenic variants on ASB16 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
30.1%
Abnormality of the cardiovascular system
20.3%
Abnormality of the musculoskeletal system
18.3%
Abnormality of head or neck
14.4%
Abnormality of the ear
14.4%
Abnormality of the eye
10.5%
Growth abnormality
9.8%
Abnormality of the integument
8.5%
Abnormality of the genitourinary system
7.8%
Abnormality of blood and blood-forming tissues
7.2%
Abnormality of the digestive system
6.5%
Abnormality of limbs
5.2%
Abnormality of the immune system
3.3%
Abnormality of the endocrine system
2%
Abnormality of the respiratory system
2%
Abnormality of prenatal development or birth
1.3%
Abnormality of the voice
1.3%
Constitutional symptom
1.3%
Neoplasm
1.3%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%

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