TRIM54
This page contains an overview of the genetic variation in the TRIM54 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:
TRIM54 gene and transcript details
Gene Name
tripartite motif containing 54
Gene Links
Ensembl: ENSG00000138100 -
Locus Reference Genomic:
Genomic Location
Chromosome 2 : 27,505,600 - 27,529,409 (forward strand)
View in: Ensembl -
UCSC Genome Browser
| Canonical Seqs | Transcript (1200 bases) | Protein (400 aa) |
|---|---|---|
 |
ENST00000296098 | ENSP00000296098 |
 |
||
 |
NM_032546.3 | |
 |
Summary of TRIM54 in Cardiomyopathies
HCM - Hypertrophic Cardiomyopathy - explore in detailBased on a detailed analysis of the role of TRIM54 in HCM (see study in the
European Heart Journal),
it is classified as:
No Evidence.
TRIM54 variants in ExAC
Details of the protein-altering TRIM54 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 | 181 | 0.00278 |
| Truncating | 17 | 0.00034 |
| Missense | 142 | 0.00212 |
| Inframe | 3 | 0.00009 |
| Splice Site | 19 | 0.00023 |