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ZPR1

Synonyms
ZNF259
External resources
Summary
The protein encoded by this gene is found in the cytoplasm of quiescent cells but translocates to the nucleolus in proliferating cells. The encoded protein interacts with survival motor neuron protein (SMN1) to enhance pre-mRNA splicing and to induce neuronal differentiation and axonal growth. Defects in this gene or the SMN1 gene can cause spinal muscular atrophy. Two 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
12
Likely pathogenic
0
VUS
3,601
Likely benign
4,713
Benign
28

Patient Phenotypes

Proportions of phenotypes among 11 patients carrying pathogenic or likely pathogenic variants on ZPR1 gene are displayed below. The following symptoms were found in patients with a variant in ZPR1. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
36.4%
Abnormality of head or neck
27.3%
Abnormality of the integument
27.3%
Abnormality of the musculoskeletal system
27.3%
Abnormality of the nervous system
27.3%
Abnormality of metabolism homeostasis
18.2%
Abnormality of the endocrine system
18.2%
Abnormality of the immune system
18.2%
Abnormal cellular phenotype
9.1%
Abnormality of blood and blood forming tissues
9.1%
Abnormality of the ear
9.1%
Abnormality of the respiratory system
9.1%
Growth abnormality
9.1%
Abnormality of limbs
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the cardiovascular system
0%
Abnormality of the digestive system
0%
Abnormality of the genitourinary system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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