PQBP1 |
- 3
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- PQBP1 (HGNC:9330) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- polyglutamine binding protein 1
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- RENS1, MRXS8, SHS, MRX55, MRX2, MRXS3
- Alias symbols
- No aliases found
- %HI
- 39.11(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0.79(Read more about gnomAD pLI score)
- LOEUF
- 0.5(Read more about gnomAD LOEUF score)
- Cytoband
- Xp11.23
- Genomic Coordinates
-
GRCh37/hg19: chrX:48755213-48760420 NCBI Ensembl UCSC GRCh38/hg38: chrX:48897930-48903143 NCBI Ensembl UCSC - MANE Select Transcript
- NM_001032382.2 ENST00000447146.7 (Read more about MANE Select)
- Function
- Intrinsically disordered protein that acts as a scaffold, and which is involved in different processes, such as pre-mRNA splicing, transcription regulation, innate immunity and neuron development (PubMed:10198427, PubMed:10332029, PubMed:12062018, PubMed:20410308, PubMed:23512658). Interacts with splicing-related factors via the intrinsically disordered region and regulates alternative splicing of target pre-mRNA species (PubMed:10332029, PubMed:12062018, PubMed:23512658, PubMed:20410308). May s... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Haploinsufficiency (HI) Score Details
- Renpenning syndrome Monarch
-
PUBMED:
20950397
Germanaud et al. (2011) report 13 male patients from 7 families who had syndromic intellectual disability and either frameshift or nonsense mutations. Carrier females were normal. The authors provided detailed clinical descriptions adding to the growing spectrum of features included in what is now considered collectively as Renpenning syndrome.
-
PUBMED:
17033686
Martinez-Garay et al (2007) report two male cousins with syndromic intellectual disability, including microphthalmia, who had a frameshift mutation. Carrier mothers were normal.
-
PUBMED:
21315190
Rejeb et al (2011) report three brothers with syndromic intellectual disability and a frameshift mutation. Their carrier mother was normal. They also provide a review of all previous cases reported.
The loss-of-function and triplosensitivity ratings for genes on the X chromosome are made in the context of a male genome to account for the effects of hemizygous duplications or nullizygous deletions. In contrast, disruption of some genes on the X chromosome causes male lethality and the ratings of dosage sensitivity instead take into account the phenotype in female individuals. Factors that may affect the severity of phenotypes associated with X-linked disorders include the presence of variable copies of the X chromosome (i.e. 47,XXY or 45,X) and skewed X-inactivation in females.
Triplosensitivity (TS) Score Details
The loss-of-function and triplosensitivity ratings for genes on the X chromosome are made in the context of a male genome to account for the effects of hemizygous duplications or nullizygous deletions. In contrast, disruption of some genes on the X chromosome causes male lethality and the ratings of dosage sensitivity instead take into account the phenotype in female individuals. Factors that may affect the severity of phenotypes associated with X-linked disorders include the presence of variable copies of the X chromosome (i.e. 47,XXY or 45,X) and skewed X-inactivation in females.