CUL4B |
- 3
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- CUL4B (HGNC:2555) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- cullin 4B
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- No previous names found
- Alias symbols
- No aliases found
- %HI
- 8.31(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 1(Read more about gnomAD pLI score)
- LOEUF
- 0.09(Read more about gnomAD LOEUF score)
- Cytoband
- Xq24
- Genomic Coordinates
-
GRCh37/hg19: chrX:119657713-119709387 NCBI Ensembl UCSC GRCh38/hg38: chrX:120523858-120575532 NCBI Ensembl UCSC - MANE Select Transcript
- NM_001079872.2 ENST00000371322.11 (Read more about MANE Select)
- Function
- Core component of multiple cullin-RING-based E3 ubiquitin- protein ligase complexes which mediate the ubiquitination and subsequent proteasomal degradation of target proteins (PubMed:14578910, PubMed:16322693, PubMed:16678110, PubMed:18593899, PubMed:29779948, PubMed:30166453, PubMed:33854232, PubMed:33854239, PubMed:22118460). The functional specificity of the E3 ubiquitin-protein ligase complex depends on the variable substrate recognition subunit (PubMed:14578910, PubMed:16678110, PubMed:1859... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Haploinsufficiency (HI) Score Details
- X-linked intellectual disability, Cabezas type Monarch
-
PUBMED:
17236139
Tarpey (2007): A report of five families with intellectual disability in males who were found to have loss of function variants in CUL4B, including one frameshift, two nonsense, and two splice variants. Carrier females were unaffected.
-
PUBMED:
17273978
Zou (2007) reported a large family with X-linked intellectual disability. They identified a nonsense variant in CUL4B (R388X) in seven affected males and six carrier females. All female carriers were phenotypically normal and had skewed X-inactivation.
-
PUBMED:
22182342
Ravn (2011): A report of monozygotic male twins with intellectual disability, seizures, short stature, truncal obesity and dysmorphic features who had a 28 kb deletion involving only CUL4B. The deletion was inherited from a normal mother who had skewed X-inactivation.
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PUBMED:
26350204
In a cohort of 986 individuals with intellectual disability Grozeva et al (2015) identified 5 loss of function variants in CUL4B including 1 frameshift, 1 splice-site, and 3 nonsense variants.
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.