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TJAP1

Synonyms
PILT, TJP4
External resources
Summary
This gene encodes a tight junction-associated protein. Incorporation of the encoded protein into tight junctions occurs at a late stage of formation of the junctions. The encoded protein localizes to the Golgi and may function in vesicle trafficking. Alternatively spliced transcript variants have been described. A related pseudogene exists on the X chromosome.

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
13
Likely pathogenic
0
VUS
6,774
Likely benign
469
Benign
0

Patient phenotypes

Proportions of phenotypes among 13 patients carring pathogenic or likely pathogenic variants on TJAP1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
38.5%
Abnormality of blood and blood-forming tissues
15.4%
Abnormality of the genitourinary system
15.4%
Abnormality of the immune system
15.4%
Abnormality of the musculoskeletal system
15.4%
Abnormality of the nervous system
15.4%
Growth abnormality
15.4%
Abnormal cellular phenotype
7.7%
Abnormality of head or neck
7.7%
Abnormality of limbs
7.7%
Abnormality of the cardiovascular system
7.7%
Abnormality of the digestive system
7.7%
Abnormality of the endocrine system
7.7%
Abnormality of the integument
7.7%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the ear
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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