CEBPE
  • 30
    Haplo
    Score
  • -5
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
CEBPE (HGNC:1836) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
CCAAT enhancer binding protein epsilon
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
CRP1
%HI
30.23(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0.05(Read more about gnomAD pLI score)
LOEUF
0.85(Read more about gnomAD LOEUF score)
Cytoband
14q11.2
Genomic Coordinates
GRCh37/hg19: chr14:23586515-23588464 NCBI Ensembl UCSC
GRCh38/hg38: chr14:23117306-23119255 NCBI Ensembl UCSC
MANE Select Transcript
NM_001805.4 ENST00000206513.6 (Read more about MANE Select)
Function
Transcriptional activator (PubMed:26019275). C/EBP are DNA- binding proteins that recognize two different motifs: the CCAAT homology common to many promoters and the enhanced core homology common to many enhancers. Required for the promyelocyte-myelocyte transition in myeloid differentiation (PubMed:10359588). {ECO:0000269|PubMed:10359588, ECO:0000269|PubMed:26019275}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-5900
ClinGen Curation ID:
CCID:006834
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Read full report...
Triplosensitivity:
Not Yet Evaluated
Read full report...
Last Evaluated:
08/22/2016

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:

Triplosensitivity (TS) Score Details

TS Evidence Strength:
Not Yet Evaluated (Disclaimer)

Genomic View

Select assembly: (NC_000014.8) (NC_000014.9)