JUP

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

JUP gene and transcript details

Gene Name
junction plakoglobin

Gene Links
Ensembl: ENSG00000173801 - Locus Reference Genomic: LRG_401

Genomic Location
Chromosome 17 : 39,911,996 - 39,928,106 (reverse strand)
View in: Ensembl - UCSC Genome Browser

Canonical Seqs	Transcript (2235 bases)	Protein (745 aa)
	ENST00000393930	ENSP00000377507
	LRG_401t2	LRG_401p2
	NM_002230.2
		P14923

Summary of JUP in Cardiomyopathies

ARVC - Arrhythmogenic Right Ventricular Cardiomyopathy - explore in detail

VarType	ARVC Freq	ExAC Freq	Case Excess
All	0.08511	0.01196	7.32%
Truncating	0.00000	0.00018	-0.02%
Non-Truncating	0.08511	0.01180	7.33%

Based on an analysis of rare variants (MAF<0.0001) in JUP detected in a cohort of 94 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	0.00471	0.01196	-0.73%
Truncating	0.00000	0.00018	-0.02%
Non-Truncating	0.00471	0.01180	-0.71%

Based on an analysis of rare variants (MAF<0.0001) in JUP detected in a cohort of 425 DCM patients sequenced at OMGL+LMM clinical laboratories, compared to ExAC controls.

JUP variants in ExAC

Details of the protein-altering JUP 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	328	0.00645
Truncating	7	0.00009
Missense	284	0.00583
Inframe	5	0.00007
Splice Site	32	0.00046

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