EMD

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

EMD gene and transcript details

Gene Name
emerin

Gene Links
Ensembl: ENSG00000102119 - Locus Reference Genomic:

Genomic Location
Chromosome X : 153,607,845 - 153,609,557 (forward strand)
View in: Ensembl - UCSC Genome Browser


Canonical Seqs Transcript (762 bases)Protein (254 aa)
ENST00000369842 ENSP00000358857
NM_000117.2
P50402

Summary of EMD in Cardiomyopathies

DCM - Dilated Cardiomyopathy - explore in detail
VarTypeDCM FreqExAC FreqCase Excess
All0.001690.001660.00%
Truncating0.000000.000000.00%
Non-Truncating0.001690.001660.00%
Based on an analysis of rare variants (MAF<0.0001) in EMD detected in a cohort of 590 DCM patients sequenced at OMGL+LMM clinical laboratories, compared to ExAC controls.


EMD variants in ExAC

Details of the protein-altering EMD 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 Variants710.00124
Truncating0nan
Missense640.00111
Inframe20.00004
Splice Site50.00010

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