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ABCE1

Synonyms
ABC38, OABP, RLI, RLI1, RNASEL1, RNASELI, RNS4I
External resources
Summary
The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the OABP subfamily. Alternatively referred to as the RNase L inhibitor, this protein functions to block the activity of ribonuclease L. Activation of ribonuclease L leads to inhibition of protein synthesis in the 2-5A/RNase L system, the central pathway for viral interferon action. Two transcript variants encoding the same protein 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
10
Likely pathogenic
0
VUS
3,287
Likely benign
929
Benign
0

Patient phenotypes

Proportions of phenotypes among 9 patients carring pathogenic or likely pathogenic variants on ABCE1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the ear
44.4%
Abnormality of the cardiovascular system
33.3%
Abnormality of the eye
33.3%
Abnormality of the nervous system
33.3%
Abnormality of head or neck
22.2%
Abnormality of the musculoskeletal system
22.2%
Abnormality of limbs
11.1%
Abnormality of the digestive system
11.1%
Abnormality of the integument
11.1%
Abnormality of the respiratory system
11.1%
Abnormality of the voice
11.1%
Constitutional symptom
11.1%
Growth abnormality
11.1%
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 genitourinary system
0%
Abnormality of the immune system
0%
Abnormality of the thoracic cavity
0%
Neoplasm
0%

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