• 0
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
ZNF81 (HGNC:13156) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
zinc finger protein 81
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
MRX45
Alias symbols
HFZ20
%HI
71.33(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0.55(Read more about gnomAD pLI score)
LOEUF
0.51(Read more about gnomAD LOEUF score)
Cytoband
Xp11.23
Genomic Coordinates
GRCh37/hg19: chrX:47696301-47785026 NCBI Ensembl UCSC
GRCh38/hg38: chrX:47836902-47925627 NCBI Ensembl UCSC
MANE Select Transcript
NM_007137.5 ENST00000338637.13 (Read more about MANE Select)
Function
May be involved in transcriptional regulation. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-20976
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency (0)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
10/29/2012

Haploinsufficiency (HI) Score Details

HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency (Disclaimer)
HI Evidence Comments:
PMID15121780: Kleefstra et al. (2004) characterized the breakpoints of a de novo translocation, t(X;9)(p11.23;q34.3), in a female patient with severe mental retardation and found that the translocation disrupted the ZNF81 gene. No ZNF81 transcript was found in a lymphoblastoid cell line derived from the patient’s blood. The breakpoint on chromosome 9 involved the EU-HMTase gene. Kleefstra et al. (2004) then looked for other mutations of ZNF81 in 300 families and patients with nonspecific X-linked mental retardation. In one family, they found a ser179-to-asn substitution in ZNF81. The mutation fully segregated with the phenotype and was not observed in control samples.
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:
PMID22634100: Alesi et al. (2012) described a 3-year-old boy with developmental delay, autistic features and growth and speech delay. Array-CGH analysis detected a microduplication on the X chromosome (Xp11.2p11.3), spanning 335.4 kb and including ZNF81, ZNF182 and SPACA5. No duplications of the single gene, ZNF81, have been identified to date. PMID20662849: El-Hattab et al. (2011) found a ~1.3 Mb tandem duplication at Xp11.23p11.3 in an 11-year-old boy with ID and dysmorphic features. The duplicated region contained FTSJ1, ZNF81, and SYN1. Quantitative polymerase chain reaction from whole blood total RNA showed increased expression of three genes located in the duplicated region: EBP, WDR13, and ZNF81. Thus, over-expression of genes in the interval may have contributed to the observed phenotype.
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)