GENE REFERENCE / HGNC:17944

EXOSC3

exosome component 3

protein-coding gene9p13.2Gene information

What does this gene do?

The EXOSC3 gene provides instructions for making a protein known as exosome component 3. As its name suggests, this protein forms one part (subunit) of a large, multi-protein complex known as the RNA exosome. Within cells, this complex helps to process multiple types of RNA, which are chemical cousins of DNA, by cutting (cleaving) RNA molecules in certain places. The RNA exosome also breaks down (degrades) molecules of RNA when they are no longer needed. Appropriate processing and breakdown of RNA molecules is essential for the normal functioning of all cells.

Studies suggest that the activity of exosome component 3 is necessary for the normal development and growth of certain areas of the brain, particularly the cerebellum, which is the part of the brain that coordinates movement. Exosome component 3 also appears to be important for the survival of specialized nerve cells in the spinal cord called motor neurons, which play an essential role in muscle movement.

Source: MedlinePlus, National Library of Medicine. Source publication: 2020-08-18. Source review: 2014-11.

ClinGen reviews

We found no matching ClinGen review in the data used here. This does not rule out a link between the gene and a condition.

ClinVar records

These numbers show what has been submitted to ClinVar. They cannot tell you how likely you are to have a condition.

Submitted alleles: 400
Submissions for variants in or overlapping this gene: 629
Submissions explicitly reporting this gene: 547
Alleles reported pathogenic / likely pathogenic: 53
VariationIDs with uncertain significance: 114
VariationIDs with conflicting classifications: 14

The rows count different things: alleles, submissions or VariationIDs. Their categories can overlap, so do not add them together. Pathogenic/likely pathogenic counts exclude structural variants that merely overlap a gene. A dash in the source means “not reported,” not zero.

NCBI produces the gene-summary file each week using counts recorded at the start of the month. The numbers may differ from those on the live ClinVar website. Read the field definitions ↗

View this gene in ClinVar ↗

YOUR DNA FILE

Can your DNA file tell you about EXOSC3?

From a DNA test kit (such as 23andMe, AncestryDNA or MyHeritage). These kits check a fixed list of about 600,000 to 700,000 positions across your whole genome. ClinVar lists 53 alleles in EXOSC3 reported as pathogenic or likely pathogenic. A kit checks only some of these positions, and often none of them.

From whole genome sequencing (a VCF file). Sequencing reads most of your genome. Your file lists the places where your DNA differs from the reference genome. Some regions are hard to sequence, including parts of some genes that have near-identical copies elsewhere, and a VCF file does not record which positions were read well.

If a variant is not in your file, that does not mean you don’t have it.

What BioDecode checks

BioDecode compares every variant in your file with ClinVar, on your own computer. For each match, it shows the ClinVar classification, the review status and the condition it was reported for. Your file is not uploaded.

A ClinVar classification applies to one particular variant and the condition it was reported for. It does not tell you about other variants in EXOSC3.

BioDecode cannot fill gaps in your test, diagnose a condition or replace clinical testing.

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