TRIM63

This page contains an overview of the genetic variation in the TRIM63 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:

TRIM63 gene and transcript details

Gene Name
tripartite motif containing 63, E3 ubiquitin protein ligase

Gene Links
Ensembl: ENSG00000158022 - Locus Reference Genomic:

Genomic Location
Chromosome 1 : 26,378,364 - 26,393,985 (reverse strand)
View in: Ensembl - UCSC Genome Browser


Canonical Seqs Transcript (1059 bases)Protein (353 aa)
ENST00000374272 ENSP00000363390
NM_032588.3
Q969Q1

Summary of TRIM63 in Cardiomyopathies

HCM - Hypertrophic Cardiomyopathy - explore in detail

Based on a detailed analysis of the role of TRIM63 in HCM (see study in the European Heart Journal), it is classified as:
Weak Evidence.


TRIM63 variants in ExAC

Details of the protein-altering TRIM63 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 VariantsCombined frequency of rare variants
All Variants1750.00302
Truncating180.00033
Missense1300.00218
Inframe40.00006
Splice Site230.00045

Rare variants are defined as having a mean allelic frequency of less than 0.0001.