GJE1 gap junction protein epsilon 1

Information
Symbol
GJE1
Type
protein-coding
Description
gap junction protein epsilon 1
Entrez Gene ID
100126572
Genome
hg19
Position
chr6:142,454,062-142,456,495
Genome
hg38
Position
chr6:142,132,925-142,135,358
HGNC
HGNC:33251 HGNC
Ensembl
ENSG00000203733 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 2
Ranking
ClinVar
0
0
0
2
0
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
[No Data.]
Locus Zoom
Variants
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Variant name Gene AA change CDS Japanese
frequency		 TogoVar MGeND Genome ClinVar CIViC evidence DisGeNET entry COSMIC
occurrence		 Prediction
Entry Origin Type Annotation Entry Origin Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Size Chromosome Start Stop Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Gene symbol Chromosome Genomic start Genomic stop Strand Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
TypeID
SYNONYM CX23
HGNC HGNC:33251 HGNC
Ensembl ENSG00000203733 Ensembl
AllianceGenome HGNC:33251
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000450456.3 hg38 chr6 142,132,925 142,135,358 2,434
ENST00000450456.3 hg19 chr6 142,454,062 142,456,495 2,434
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