DSP

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

DSP gene and transcript details

Gene Name
desmoplakin

Gene Links
Ensembl: ENSG00000096696 - Locus Reference Genomic: LRG_423

Genomic Location
Chromosome 6 : 7,542,149 - 7,586,111 (forward strand)
View in: Ensembl - UCSC Genome Browser


Canonical Seqs Transcript (8613 bases)Protein (2871 aa)
ENST00000379802 ENSP00000369129
LRG_423t1LRG_423p1
NM_004415.2
P15924

Summary of DSP in Cardiomyopathies

ARVC - Arrhythmogenic Right Ventricular Cardiomyopathy - explore in detail
VarTypeARVC FreqExAC FreqCase Excess
All0.122160.031489.07%
Truncating0.059660.000705.90%
Non-Truncating0.062500.030783.17%
Based on an analysis of rare variants (MAF<0.0001) in DSP detected in a cohort of 352 ARVC patients sequenced at OMGL clinical laboratories, compared to ExAC controls.

DCM - Dilated Cardiomyopathy - explore in detail
VarTypeDCM FreqExAC FreqCase Excess
All0.074940.031484.35%
Truncating0.028100.000702.74%
Non-Truncating0.046840.030781.61%
Based on an analysis of rare variants (MAF<0.0001) in DSP detected in a cohort of 427 DCM patients sequenced at OMGL+LMM clinical laboratories, compared to ExAC controls.


DSP variants in ExAC

Details of the protein-altering DSP 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 Variants10120.01656
Truncating280.00035
Missense9180.01509
Inframe160.00030
Splice Site500.00083

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