ANCR; AS; E6-AP; EPVE6AP; HPVE6A
The UBE3A gene is associated with autosomal dominant Angelman syndrome (MedGen UID: 58144).
Order this gene as a single gene test.
Invitae tests that include this gene:
Angelman syndrome is associated with pathogenic UBE3A point mutations and small indels in ~11% of cases, maternally inherited 15q11 deletions in up to 68% of cases, and uniparental disomy (UPD) in 7-10% of cases. Note: Invitae’s assay includes sequencing and deletion analysis of UBE3A but does not detect UPD or imprinting center defects.
The cell is continually producing essential building blocks for life, such as proteins, metabolites, sugars, and lipids. These components are also continually degraded as they become damaged, overabundant, or unnecessary. The UBE3A gene encodes an E3 ubiquitin ligase, which conjugates the small protein ubiquitin to target proteins to flag them for degradation at the proteasome (PMID: 23476809).
Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion/duplication analysis using next-generation sequencing technology (NGS).
Our sequence analysis covers clinically important regions of each gene, including coding exons, +/- 10 base pairs of adjacent intronic sequence in the transcript listed below. In addition, analysis covers the select non-coding variants specifically defined in the table below. Any variants that fall outside these regions are not analyzed. Any specific limitations in the analysis of these genes are also listed in the table below.
Our analysis detects most intragenic deletions and duplications at single exon resolution. However, in rare situations, single-exon copy number events may not be analyzed due to inherent sequence properties or isolated reduction in data quality. If you are requesting the detection of a specific single-exon copy number variation, please contact Client Services before placing your order.
|Gene||Transcript reference||Sequencing analysis||Deletion/Duplication analysis|