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ASB6

Synonyms
-
External resources
Summary
The protein encoded by this gene belongs to a family of ankyrin repeat proteins that, along with four other protein families, contain a C-terminal SOCS box motif. Growing evidence suggests that the SOCS box, similar to the F-box, acts as a bridge between specific substrate-binding domains and the more generic proteins that comprise a large family of E3 ubiquitin protein ligases. Alternatively spliced transcript variants have been identified 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
3
Likely pathogenic
7
VUS
1,262
Likely benign
313
Benign
0

Patient Phenotypes

Proportions of phenotypes among 10 patients carrying pathogenic or likely pathogenic variants on ASB6 gene are displayed below. The following symptoms were found in patients with a variant in ASB6. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
50%
Abnormality of the immune system
20%
Abnormality of the musculoskeletal system
20%
Constitutional symptom
20%
Abnormality of limbs
10%
Abnormality of metabolism homeostasis
10%
Abnormality of the cardiovascular system
10%
Abnormality of the nervous system
10%
Abnormal cellular phenotype
0%
Abnormality of blood and blood forming tissues
0%
Abnormality of head or neck
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the digestive system
0%
Abnormality of the ear
0%
Abnormality of the endocrine system
0%
Abnormality of the genitourinary system
0%
Abnormality of the integument
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Growth abnormality
0%
Neoplasm
0%

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