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)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
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)