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PTGES3L-AARSD1

Synonyms
-
External resources
Summary
This locus represents naturally occurring readthrough transcription between the neighboring PTGES3L (prostaglandin E synthase 3 (cytosolic)-like) and AARSD1(alanyl-tRNA synthetase domain containing 1) genes on chromosome 17. The readthrough transcript encodes a fusion protein that shares sequence identity with each individual gene product.

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
20
Likely pathogenic
7
VUS
3,917
Likely benign
1,464
Benign
0

Patient phenotypes

Proportions of phenotypes among 27 patients carring pathogenic or likely pathogenic variants on PTGES3L-AARSD1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
37%
Abnormality of head or neck
33.3%
Abnormality of the musculoskeletal system
29.6%
Abnormality of the cardiovascular system
22.2%
Abnormality of the eye
22.2%
Growth abnormality
14.8%
Abnormality of limbs
7.4%
Abnormality of the ear
7.4%
Abnormality of the genitourinary system
7.4%
Abnormality of the immune system
7.4%
Abnormal cellular phenotype
3.7%
Abnormality of blood and blood-forming tissues
3.7%
Abnormality of prenatal development or birth
3.7%
Abnormality of the digestive system
3.7%
Abnormality of the endocrine system
3.7%
Abnormality of the integument
3.7%
Abnormality of the respiratory system
3.7%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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