ZBTB24
  • 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
ZBTB24 (HGNC:21143) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
zinc finger and BTB domain containing 24
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
ZNF450
Alias symbols
KIAA0441, BIF1, PATZ2
%HI
53.44(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
0.76(Read more about gnomAD LOEUF score)
Cytoband
6q21
Genomic Coordinates
GRCh37/hg19: chr6:109783797-109804422 NCBI Ensembl UCSC
GRCh38/hg38: chr6:109462594-109483219 NCBI Ensembl UCSC
MANE Select Transcript
NM_014797.3 ENST00000230122.4 (Read more about MANE Select)
Function
May be involved in BMP2-induced transcription. {ECO:0000250}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-33762
ClinGen Curation ID:
CCID:008127
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
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:
  • immunodeficiency-centromeric instability-facial anomalies syndrome 2 Monarch

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000006.11) (NC_000006.12)