ZNF81 |
- 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)
Haploinsufficiency (HI) 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.
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.