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ASB14

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. Alternative splicing results in multiple transcript variants encoding different isoforms.

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
39
Likely pathogenic
0
VUS
1,489
Likely benign
95
Benign
0

Patient phenotypes

Proportions of phenotypes among 39 patients carring pathogenic or likely pathogenic variants on ASB14 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
35.9%
Abnormality of the musculoskeletal system
33.3%
Abnormality of head or neck
20.5%
Abnormality of the eye
17.9%
Abnormality of the cardiovascular system
12.8%
Abnormality of the ear
12.8%
Growth abnormality
12.8%
Abnormality of the digestive system
10.3%
Abnormality of the immune system
10.3%
Abnormality of limbs
7.7%
Abnormality of the genitourinary system
7.7%
Abnormality of the integument
7.7%
Abnormality of blood and blood-forming tissues
5.1%
Abnormality of the respiratory system
5.1%
Abnormality of prenatal development or birth
2.6%
Neoplasm
2.6%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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