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PRPS1L1

Synonyms
PRPS1, PRPS3, PRPSL, PRS-III
External resources
Summary
This intronless gene is specifically expressed in the testis, and encodes a protein that is highly homologous to the two subunits of phosphoribosylpyrophosphate synthetase encoded by human X-linked genes, PRPS1 and PRPS2. These enzymes convert pyrimidine, purine or pyridine bases to the corresponding ribonucleoside monophosphates. In vitro transcription/translation and site-directed mutagenesis studies indicate that translation of this mRNA initiates exclusively at a non-AUG (ACG) codon.

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
5
Likely pathogenic
47
VUS
2,649
Likely benign
9
Benign
0

Patient phenotypes

Proportions of phenotypes among 52 patients carring pathogenic or likely pathogenic variants on PRPS1L1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
50%
Abnormality of the musculoskeletal system
34.6%
Abnormality of the eye
32.7%
Abnormality of the integument
21.2%
Abnormality of head or neck
19.2%
Abnormality of blood and blood-forming tissues
15.4%
Abnormality of limbs
15.4%
Abnormality of the cardiovascular system
15.4%
Growth abnormality
13.5%
Abnormality of the genitourinary system
11.5%
Abnormality of the immune system
11.5%
Abnormality of the digestive system
9.6%
Abnormal cellular phenotype
7.7%
Abnormality of the respiratory system
7.7%
Neoplasm
7.7%
Abnormality of the ear
5.8%
Abnormality of the endocrine system
5.8%
Constitutional symptom
5.8%
Abnormality of prenatal development or birth
1.9%
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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