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CPS1

Synonyms
CPSASE1, GATD6, PHN
External resources
Summary
The mitochondrial enzyme encoded by this gene catalyzes synthesis of carbamoyl phosphate from ammonia and bicarbonate. This reaction is the first committed step of the urea cycle, which is important in the removal of excess urea from cells. The encoded protein may also represent a core mitochondrial nucleoid protein. Three transcript variants encoding different isoforms have been found for this gene. The shortest isoform may not be localized to the mitochondrion. Mutations in this gene have been associated with carbamoyl phosphate synthetase deficiency, susceptibility to persistent pulmonary hypertension, and susceptibility to venoocclusive disease after bone marrow transplantation.

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
15
Likely pathogenic
1
VUS
7,821
Likely benign
3,851
Benign
691

Patient Phenotypes

Proportions of phenotypes among 15 patients carrying pathogenic or likely pathogenic variants on CPS1 gene are displayed below. The following symptoms were found in patients with a variant in CPS1. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of head or neck
33.3%
Abnormality of the nervous system
33.3%
Abnormality of the cardiovascular system
20%
Abnormality of the integument
20%
Abnormality of blood and blood forming tissues
13.3%
Abnormality of the digestive system
13.3%
Abnormality of the ear
13.3%
Abnormality of the endocrine system
13.3%
Abnormality of the eye
13.3%
Abnormality of the genitourinary system
13.3%
Abnormality of limbs
6.7%
Abnormality of the immune system
6.7%
Abnormality of the musculoskeletal system
6.7%
Abnormality of the voice
6.7%
Constitutional symptom
6.7%
Growth abnormality
6.7%
Neoplasm
6.7%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%

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