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)
Triplosensitivity:
Not Yet Evaluated
Last Evaluated:
08/22/2016
Haploinsufficiency (HI) Score Details
HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype
(Disclaimer)
HI Disease:
- specific granule deficiency 1 Monarch
Triplosensitivity (TS) Score Details
TS Evidence Strength:
Not Yet Evaluated (Disclaimer)
Genomic View
Select assembly:
(NC_000014.8)
(NC_000014.9)