CEBPE CCAAT enhancer binding protein epsilon

Information
Symbol
CEBPE
Type
protein-coding
Description
CCAAT enhancer binding protein epsilon
Entrez Gene ID
1053
Genome
hg19
Position
chr14:23,586,515-23,588,464
Genome
hg38
Position
chr14:23,117,306-23,119,255
MIM
600749 OMIM
HGNC
HGNC:1836 HGNC
Ensembl
ENSG00000092067 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 20
Likely pathogenic 0 4
Benign 0 14
Likely benign 0 144
Conflicting classifications of pathogenicity 0 2
Uncertain significance 6 204
Ranking
ClinVar
0
0
32
340
10
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
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 C/EBP-epsilon
SYNONYM CRP1
SYNONYM IMD108
SYNONYM SGD1
SYNONYM c/EBP epsilon
MIM 600749 OMIM
HGNC HGNC:1836 HGNC
Ensembl ENSG00000092067 Ensembl
AllianceGenome HGNC:1836
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000206513.6 hg38 chr14 23,117,306 23,119,255 1,950
ENST00000206513.6 hg19 chr14 23,586,515 23,588,464 1,950
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