UFD1L
This page contains an overview of the genetic variation in the UFD1L gene, including its role in inherited cardiac disease. For more details, click on the links below, or for a specific variant, enter the HGVS variant here:
UFD1L gene and transcript details
Gene Name
ubiquitin fusion degradation 1 like (yeast)
Gene Links
Ensembl: ENSG00000070010 -
Locus Reference Genomic:
Genomic Location
Chromosome 22 : 19,438,193 - 19,466,608 (reverse strand)
View in: Ensembl -
UCSC Genome Browser
| Canonical Seqs | Transcript (921 bases) | Protein (307 aa) |
|---|---|---|
 |
ENST00000263202 | ENSP00000263202 |
 |
||
 |
NM_005659.6 | |
 |
Q92890 |
Summary of UFD1L in Cardiomyopathies
UFD1L variants in ExAC
Details of the protein-altering UFD1L variants (missense, loss of function truncating, inframe indels and splice site regions) found in the ExAC database are shown below. To view lists of specific variants with links to detailed population frequency data, click on the variant numbers - for all or a particular variant class.
| Total Variants | Combined frequency of rare variants | |
|---|---|---|
| All Variants | 75 | 0.00106 |
| Truncating | 0 | nan |
| Missense | 54 | 0.00071 |
| Inframe | 2 | 0.00005 |
| Splice Site | 19 | 0.00030 |