GENE REFERENCE / HGNC:4010

FUS

FUS DNA/RNA binding protein

protein-coding gene16p11.2Gene information

What does this gene do?

The FUS gene provides instructions for making a protein that is found within the cell nucleus in most tissues and is involved in many of the steps of protein production.

The FUS protein attaches (binds) to DNA and regulates an activity called transcription, which is the first step in the production of proteins from genes. The FUS protein is also involved in processing molecules called messenger RNA (mRNA), which serve as the genetic blueprints for making proteins. By cutting and rearranging mRNA molecules in different ways, the FUS protein controls the production of different versions of certain proteins. This process is known as alternative splicing. Once the FUS protein processes the mRNA, it transports the mRNA out of the nucleus where it gets taken up by other cell structures to be further processed into a mature protein. The FUS protein also helps repair errors in DNA, which prevents cells from accumulating genetic damage.

Source: MedlinePlus, National Library of Medicine. Source publication: 2020-08-18. Source review: 2016-02.

ClinGen reviews

ClinGen reviews the evidence linking a particular gene to a condition. Each rating below describes the strength of that link. It does not classify a variant in your DNA file.

Condition	Inheritance	Evidence
amyotrophic lateral sclerosis type 6MONDO:0011951 · Evaluated 2021-10-12	Autosomal dominant	DefinitiveAmyotrophic Lateral Sclerosis Spectrum Disorders Gene Curation Expert Panel

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: 721
Submissions for variants in or overlapping this gene: 1,355
Submissions explicitly reporting this gene: 1,325
Alleles reported pathogenic / likely pathogenic: 55
VariationIDs with uncertain significance: 299
VariationIDs with conflicting classifications: 38

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 FUS?

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 55 alleles in FUS 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 FUS.

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

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