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ANO9

Synonyms
PIG5, TMEM16J, TP53I5
External resources
Summary
The protein encoded by this gene is a member of the TMEM16 (anoctamin) family of proteins, some of which form integral membrane calcium-activated chloride channels. The function of the encoded protein has yet to be elucidated, although it may have channel-forming abilities and also may have phospholipid scramblase activity. This gene has been observed to be upregulated in stage II and III colorectal cancers.

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
48
Likely pathogenic
0
VUS
6,494
Likely benign
301
Benign
0

Patient Phenotypes

Proportions of phenotypes among 36 patients carrying pathogenic or likely pathogenic variants on ANO9 gene are displayed below. The following symptoms were found in patients with a variant in ANO9. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
38.9%
Abnormality of the eye
30.6%
Abnormality of the musculoskeletal system
27.8%
Abnormality of the cardiovascular system
13.9%
Abnormality of the ear
13.9%
Abnormality of head or neck
11.1%
Abnormality of blood and blood forming tissues
8.3%
Abnormality of limbs
8.3%
Abnormality of the digestive system
8.3%
Abnormality of the breast
5.6%
Abnormality of the genitourinary system
5.6%
Growth abnormality
5.6%
Abnormality of the immune system
2.8%
Abnormality of the integument
2.8%
Constitutional symptom
2.8%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the endocrine system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Neoplasm
0%

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