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NAXE

Synonyms
AIBP, APOA1BP, PEBEL, YJEFN1
External resources
Summary
The product of this gene interacts with apolipoprotein A-I (apoA-I), the major apolipoprotein of high-density lipoproteins (HDLs). It is secreted into some bodily fluids, and its synthesis and secretion are stimulated in vitro by incubating cells with apoA-I. The human genome contains related pseudogenes.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
13
Likely pathogenic
0
VUS
3,215
Likely benign
1,116
Benign
80

Patient phenotypes

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

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
61.5%
Abnormality of the musculoskeletal system
46.2%
Abnormality of head or neck
15.4%
Abnormality of the cardiovascular system
15.4%
Abnormality of the eye
15.4%
Abnormality of the genitourinary system
15.4%
Abnormality of limbs
7.7%
Abnormality of the digestive system
7.7%
Abnormality of the ear
7.7%
Abnormality of the respiratory system
7.7%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the immune system
0%
Abnormality of the integument
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Growth abnormality
0%
Neoplasm
0%

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