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ASMTL

Synonyms
ASMTLX, ASMTLY, ASTML
External resources
Summary
The protein encoded by this gene has an N-terminus that is similar to the multicopy associated filamentation (maf) protein of Bacillus subtilis and to orfE of Escherichia coli, while the C-terminus is similar to N-acetylserotonin O-methyltransferase. This gene is located in the pseudoautosomal region 1 (PAR1) of X and Y chromosomes. Three 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
30
Likely pathogenic
0
VUS
2,566
Likely benign
252
Benign
0

Patient phenotypes

Proportions of phenotypes among 30 patients carring pathogenic or likely pathogenic variants on ASMTL gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
43.3%
Abnormality of the eye
36.7%
Abnormality of the musculoskeletal system
36.7%
Abnormality of head or neck
30%
Abnormality of the cardiovascular system
30%
Abnormality of the ear
23.3%
Abnormality of limbs
16.7%
Abnormality of the integument
16.7%
Abnormality of the digestive system
13.3%
Abnormality of blood and blood-forming tissues
10%
Abnormality of prenatal development or birth
10%
Abnormality of the immune system
10%
Growth abnormality
10%
Neoplasm
6.7%
Abnormality of the endocrine system
3.3%
Abnormality of the genitourinary system
3.3%
Abnormality of the respiratory system
3.3%
Constitutional symptom
3.3%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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