• 1
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
ZNF41 (HGNC:13107) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
zinc finger protein 41
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
MGC8941, MRX89
%HI
72.46(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0.04(Read more about gnomAD pLI score)
LOEUF
0.62(Read more about gnomAD LOEUF score)
Cytoband
Xp11.3
Genomic Coordinates
GRCh37/hg19: chrX:47304577-47342621 NCBI Ensembl UCSC
GRCh38/hg38: chrX:47445178-47483222 NCBI Ensembl UCSC
MANE Select Transcript
NM_001324144.2 ENST00000684689.1 (Read more about MANE Select)
Function
May be involved in transcriptional regulation. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-12540
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Little Evidence for Haploinsufficiency (1)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
10/24/2012

Haploinsufficiency (HI) Score Details

HI Score:
1
HI Evidence Strength:
Little Evidence for Haploinsufficiency (Disclaimer)
HI Evidence:
  • PUBMED: 14628291
    Shoichet et al., 2003 report a female patient with severe nonsyndromic mental retardation (MR) and a de novo balanced translocation t(X;7)(p11.3;q11.21) with sequenced breakpoints that localize within ZNF41 gene on Chr. X and a non-coding region on Chr. 7. Functional studies showed skewed X-inactivation and absent mRNA expression of ZNF41 in patient cell lines, suggesting the translocation leads to a loss-of-function for ZNF41. Two additional suspected pathogenic sequence-level ZNF41 alterations, a missense and splice-site change, were identified from a cohort of 210 patients with X-linked MR that were not present in >400 control X chromosomes. The missense variant results in a proline to leucine substitution while the splice-site variant was shown to result in absent ZNF41 isoform expression, suggesting a loss-of-function. However, since sufficient data was not provided to demonstrate loss of function for the missense and splice site changes, we did not count these changes as evidence. Additional male and female affected family members of these two index patients (both males) were identified as carriers of the respective mutations.
HI Evidence Comments:
While a translocation and two sequence-level alterations predicted to disrupt normal ZNF41 function have been identified in patients with nonsyndromic MR, deletions involving ZNF41 have not been reported in the literature.
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)
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)