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APOBEC3B

Synonyms
A3B, APOBEC1L, ARCD3, ARP4, DJ742C19.2, PHRBNL, bK150C2.2
External resources
Summary
This gene is a member of the cytidine deaminase gene family. It is one of seven related genes or pseudogenes found in a cluster, thought to result from gene duplication, on chromosome 22. Members of the cluster encode proteins that are structurally and functionally related to the C to U RNA-editing cytidine deaminase APOBEC1. It is thought that the proteins may be RNA editing enzymes and have roles in growth or cell cycle control. A hybrid gene results from the deletion of approximately 29.5 kb of sequence between this gene, APOBEC3B, and the adjacent gene APOBEC3A. The breakpoints of the deletion are within the two genes, so the deletion allele is predicted to have the promoter and coding region of APOBEC3A, but the 3' UTR of APOBEC3B. Two transcript variants encoding different isoforms 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
45
Likely pathogenic
1
VUS
7,091
Likely benign
390
Benign
0

Patient Phenotypes

Proportions of phenotypes among 46 patients carrying pathogenic or likely pathogenic variants on APOBEC3B gene are displayed below. The following symptoms were found in patients with a variant in APOBEC3B. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
65.2%
Abnormality of the eye
34.8%
Abnormality of the musculoskeletal system
28.3%
Abnormality of head or neck
26.1%
Growth abnormality
17.4%
Abnormality of limbs
15.2%
Abnormality of the digestive system
10.9%
Abnormality of the ear
10.9%
Abnormality of the integument
10.9%
Abnormality of the cardiovascular system
6.5%
Abnormality of the respiratory system
6.5%
Abnormality of the endocrine system
4.3%
Abnormality of the genitourinary system
4.3%
Abnormality of blood and blood forming tissues
2.2%
Abnormality of metabolism homeostasis
2.2%
Abnormality of the immune system
2.2%
Neoplasm
2.2%
Abnormal cellular phenotype
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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