NEXN

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

NEXN gene and transcript details

Gene Name
nexilin (F actin binding protein)

Gene Links
Ensembl: ENSG00000162614 - Locus Reference Genomic: LRG_442

Genomic Location
Chromosome 1 : 78,381,792 - 78,408,514 (forward strand)
View in: Ensembl - UCSC Genome Browser

Canonical Seqs	Transcript (2025 bases)	Protein (675 aa)
	ENST00000334785	ENSP00000333938
	LRG_442t1	LRG_442p1
	NM_144573.3
		Q0ZGT2

Summary of NEXN in Cardiomyopathies

DCM - Dilated Cardiomyopathy - explore in detail

VarType	DCM Freq	ExAC Freq	Case Excess
All	0.03205	0.00756	2.45%
Truncating	0.00641	0.00064	0.58%
Non-Truncating	0.02564	0.00692	1.87%

Based on an analysis of rare variants (MAF<0.0001) in NEXN detected in a cohort of 156 DCM patients sequenced at OMGL+LMM clinical laboratories, compared to ExAC controls.

HCM - Hypertrophic Cardiomyopathy - explore in detail

Based on a detailed analysis of the role of NEXN in HCM (see study in the European Heart Journal), it is classified as: Functional data only (no genetic evidence).

NEXN variants in ExAC

Details of the protein-altering NEXN 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	282	0.00422
Truncating	26	0.00032
Missense	226	0.00334
Inframe	14	0.00012
Splice Site	16	0.00044

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