• 1
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
NXF5 (HGNC:8075) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
nuclear RNA export factor 5
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
No aliases found
%HI
89.99(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
1.69(Read more about gnomAD LOEUF score)
Cytoband
Xq22.1
Genomic Coordinates
GRCh37/hg19: chrX:101087085-101112549 NCBI Ensembl UCSC
GRCh38/hg38: chrX:101832112-101857577 NCBI Ensembl UCSC
Function
Could be involved in the export of mRNA from the nucleus to the cytoplasm. Could also have a role in polarized cytoplasmic transport and localization of mRNA in neurons. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-33789
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Little Evidence for Haploinsufficiency (1)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
05/17/2012

Haploinsufficiency (HI) Score Details

HI Score:
1
HI Evidence Strength:
Little Evidence for Haploinsufficiency (Disclaimer)
HI Evidence:
  • PUBMED: 11566096
    Jun et al. (2001) report a male patient with a syndromic form of intellectual disability and inv(X)(p21.1;q22). The breakpoint at Xq22 interrupts NXF5 and the authors demonstrated absent mRNA levels.
HI Evidence Comments:
Frints et al (2003) provide additional clinical details on the patient reported by Jun (PMID: 11566096) and screened 115 male patients with syndromic or non-syndromic X-linked intellectual disability for mutations. They found 4 sequence changes (including two silent changes and one intronic change) that were either found in control populations or did not segregate with the condition in the family; none were considered causative (PMID:12784308). Other reports of large deletions or other rearrangements include PMIDs: 20096387, 20338563, and 22030050. While NXF5 has been proposed as a candidate gene for intellectual disability and premature ovarian failure, there have not been any focal deletions or loss of function mutations reported.
NOTE:

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

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
TS Evidence Comments:
Froyen et al. (2007) report a 0.8 Mb duplication that includes NXF5 and 14 other genes in a boy with intellectual disability. The duplication was found in his normal mother, who had skewed X-inactivation, and his maternal uncle who had intellectual disability. There have been no reports of focal duplications of NXF5 alone.
NOTE:

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.

Genomic View

Select assembly: (NC_000023.10) (NC_000023.11)