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_423t1	LRG_423p1
	NM_004415.2
		P15924

Summary of DSP in Cardiomyopathies

ARVC - Arrhythmogenic Right Ventricular Cardiomyopathy - explore in detail

VarType	ARVC Freq	ExAC Freq	Case Excess
All	0.12216	0.03148	9.07%
Truncating	0.05966	0.00070	5.90%
Non-Truncating	0.06250	0.03078	3.17%

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

VarType	DCM Freq	ExAC Freq	Case Excess
All	0.07494	0.03148	4.35%
Truncating	0.02810	0.00070	2.74%
Non-Truncating	0.04684	0.03078	1.61%

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 Variants	Combined frequency of rare variants
All Variants	1012	0.01656
Truncating	28	0.00035
Missense	918	0.01509
Inframe	16	0.00030
Splice Site	50	0.00083

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