• 0
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
CBFB (HGNC:1539) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
core-binding factor subunit beta
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
PEBP2B
%HI
9.25(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0.96(Read more about gnomAD pLI score)
LOEUF
0.33(Read more about gnomAD LOEUF score)
Cytoband
16q22.1
Genomic Coordinates
GRCh37/hg19: chr16:67063052-67134961 NCBI Ensembl UCSC
GRCh38/hg38: chr16:67029149-67101058 NCBI Ensembl UCSC
MANE Select Transcript
NM_022845.3 ENST00000412916.7 (Read more about MANE Select)
Function
Forms the heterodimeric complex core-binding factor (CBF) with RUNX family proteins (RUNX1, RUNX2, and RUNX3). RUNX members modulate the transcription of their target genes through recognizing the core consensus binding sequence 5'-TGTGGT-3', or very rarely, 5'- TGCGGT-3', within their regulatory regions via their runt domain, while CBFB is a non-DNA-binding regulatory subunit that allosterically enhances the sequence-specific DNA-binding capacity of RUNX. The heterodimers bind to the core site ... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-8907
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency (0)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
02/22/2012

Haploinsufficiency (HI) Score Details

HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency (Disclaimer)
HI Evidence Comments:
Of note, Khan et al. (2006) reported a boy with a de novo 16q21-q22 'cytogenetically visible' deletion and hemizygosity of the CBFB gene detected by FISH analysis. He had a cleft soft palate, delayed mineralization of the parietal bones, and mild dysmorphic features including hypertelorism, upslanting palpebral fissures, midface hypoplasia, and micrognathia. Khan et al. (2006) noted the phenotypic similarities to a Cbfb-deficient mouse model (PMID: 12434156) and suggested that CBFB hemizygosity in their patient may have led to the cranial ossification defects (PMID: 17022082).

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
TS Evidence Comments:
No literature regarding 'constitutional' duplication of this gene.

Genomic View

Select assembly: (NC_000016.9) (NC_000016.10)