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PPAN

Synonyms
BXDC3, SSF, SSF-1, SSF1, SSF2
External resources
Summary
The protein encoded by this gene is an evolutionarily conserved protein similar to yeast SSF1 as well as to the gene product of the Drosophila gene peter pan (ppan). SSF1 is known to be involved in the second step of mRNA splicing. Both SSF1 and ppan are essential for cell growth and proliferation. Exogenous expression of this gene was reported to reduce the anchorage-independent growth of some tumor cells. Read-through transcription of this gene with P2RY11/P2Y(11), an adjacent downstream gene that encodes an ATP receptor, has been found. These read-through transcripts are ubiquitously present and up-regulated during granulocyte differentiation.

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
27
Likely pathogenic
16
VUS
6,883
Likely benign
3,577
Benign
0

Patient phenotypes

Proportions of phenotypes among 43 patients carring pathogenic or likely pathogenic variants on PPAN gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
48.8%
Abnormality of head or neck
39.5%
Abnormality of the eye
37.2%
Abnormality of the musculoskeletal system
34.9%
Abnormality of the integument
32.6%
Abnormality of the ear
23.3%
Abnormality of limbs
16.3%
Growth abnormality
16.3%
Abnormality of the cardiovascular system
11.6%
Abnormality of the digestive system
11.6%
Abnormality of the endocrine system
9.3%
Abnormality of the genitourinary system
9.3%
Abnormality of the immune system
9.3%
Abnormality of the respiratory system
7%
Abnormality of blood and blood-forming tissues
2.3%
Abnormality of the breast
2.3%
Constitutional symptom
2.3%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Neoplasm
0%

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