EMP1 epithelial membrane protein 1

Information
Symbol
EMP1
Type
protein-coding
Description
epithelial membrane protein 1
Entrez Gene ID
2012
Genome
hg19
Position
chr12:13,349,660-13,372,875
Genome
hg38
Position
chr12:13,196,726-13,219,941
MIM
602333 OMIM
HGNC
HGNC:3333 HGNC
Ensembl
ENSG00000134531 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 4
Uncertain significance 0 20
Ranking
ClinVar
0
0
0
24
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 :
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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 CL-20
SYNONYM EMP-1
SYNONYM TMP
MIM 602333 OMIM
HGNC HGNC:3333 HGNC
Ensembl ENSG00000134531 Ensembl
AllianceGenome HGNC:3333
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000544053.5 hg38 chr12 13,196,726 13,214,872 18,147
ENST00000256951.10 hg38 chr12 13,196,726 13,219,941 23,216
ENST00000537612.1 hg38 chr12 13,211,511 13,216,773 5,263
ENST00000431267.2 hg38 chr12 13,196,723 13,215,281 18,559
ENST00000396301.7 hg38 chr12 13,196,786 13,214,800 18,015
ENST00000431267.2 hg19 chr12 13,349,657 13,368,215 18,559
ENST00000544053.5 hg19 chr12 13,349,660 13,367,806 18,147
ENST00000256951.10 hg19 chr12 13,349,660 13,372,875 23,216
ENST00000396301.7 hg19 chr12 13,349,720 13,367,734 18,015
ENST00000537612.1 hg19 chr12 13,364,445 13,369,707 5,263
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