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:
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 |
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% |
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% |
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 |