CBFB |
- 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
- 0.2(Read more about gnomAD pLI score)
- LOEUF
- 1.07(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
ClinGen Curation ID:
CCID:006793
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)