PBX1
  • 3
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
PBX1 (HGNC:8632) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
PBX homeobox 1
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
No aliases found
%HI
0.86(Read more about the DECIPHER Haploinsufficiency Index)
pLI
1(Read more about gnomAD pLI score)
LOEUF
0.21(Read more about gnomAD LOEUF score)
Cytoband
1q23.3
Genomic Coordinates
GRCh37/hg19: chr1:164528421-164855284 NCBI Ensembl UCSC
GRCh38/hg38: chr1:164559184-164886047 NCBI Ensembl UCSC
MANE Select Transcript
NM_002585.4 ENST00000420696.7 (Read more about MANE Select)
Function
Transcription factor which binds the DNA sequence 5'- TGATTGAT-3' as part of a heterodimer with HOX proteins such as HOXA1, HOXA5, HOXB7 and HOXB8 (PubMed:9191052). Binds to the DNA sequence 5'- TGATTGAC-3' in complex with a nuclear factor which is not a class I HOX protein (PubMed:9191052). Has also been shown to bind the DNA sequence 5'-ATCAATCAA-3' cooperatively with HOXA5, HOXB7, HOXB8, HOXC8 and HOXD4 (PubMed:8327485, PubMed:7791786). Acts as a transcriptional activator of PF4 in complex wi... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-6736
ClinGen Curation ID:
CCID:007621
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Sufficient Evidence for Haploinsufficiency (3)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
09/05/2019

Haploinsufficiency (HI) Score Details

HI Score:
3
HI Evidence Strength:
Sufficient Evidence for Haploinsufficiency (Disclaimer)
HI Evidence:
  • PUBMED: 29036646
    Slavotinek et al. (2017): Discussion of 8 patients with de novo, deleterious mutations in PBX1 (5 missense mutations which appeared to alter protein function as well as truncating mutations), all but one patient had developmental delay, and a variety of other abnormalities including genital, renal, cardiac/pulmonary, and craniofacial.
  • PUBMED: 28566479
    Heidet et al. (2017): in a study of patients with congenital anomalies of the kidney/urinary tract, they found 5 instances of LOF, de novo mutations/deletions within PBX1
  • PUBMED: 28270404
    Le Tanno et al. (2017): study of 8 patients with 1q23.3q24.1 deletions, minimal common region was 276 kb overlapping only the PBX1 gene, all patients with bilateral renal hypoplasia, other common features were developmental delay and ear malformations
HI Evidence Comments:
Multiple de novo mutations, including deletions and other loss-of-function mutations, in PBX1 have been associated with a variable phenotype, including developmental delay, intellectual disability, renal and cardiac malformations, and other features.

Triplosensitivity (TS) Score Details

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

Genomic View

Select assembly: (NC_000001.10) (NC_000001.11)