Home > Gene Browser > APEX1

APEX1

Synonyms
APE, APE1, APEN, APEX, APX, HAP1, REF1
External resources
Summary
Apurinic/apyrimidinic (AP) sites occur frequently in DNA molecules by spontaneous hydrolysis, by DNA damaging agents or by DNA glycosylases that remove specific abnormal bases. AP sites are pre-mutagenic lesions that can prevent normal DNA replication so the cell contains systems to identify and repair such sites. Class II AP endonucleases cleave the phosphodiester backbone 5' to the AP site. This gene encodes the major AP endonuclease in human cells. Splice variants have been found for this gene; all encode the same protein.

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
17
Likely pathogenic
0
VUS
1,036
Likely benign
745
Benign
0

Patient phenotypes

Proportions of phenotypes among 17 patients carring pathogenic or likely pathogenic variants on APEX1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the ear
23.5%
Abnormality of the eye
23.5%
Abnormality of the genitourinary system
23.5%
Abnormality of head or neck
17.6%
Abnormality of prenatal development or birth
11.8%
Abnormality of the nervous system
11.8%
Abnormality of blood and blood-forming tissues
5.9%
Abnormality of limbs
5.9%
Abnormality of the cardiovascular system
5.9%
Abnormality of the endocrine system
5.9%
Abnormality of the immune system
5.9%
Abnormality of the integument
5.9%
Abnormality of the respiratory system
5.9%
Growth abnormality
5.9%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the digestive system
0%
Abnormality of the musculoskeletal system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

Have a question or need assistance? Ask here.

Send us your questions or comments related to the variant counts and/or patient phenotypes