ZMYM3 |
- 0
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- ZMYM3 (HGNC:13054) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- zinc finger MYM-type containing 3
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- ZNF261
- Alias symbols
- ZNF198L2, DXS6673E, KIAA0385, MYM
- %HI
- 26.32(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 1(Read more about gnomAD pLI score)
- LOEUF
- 0.11(Read more about gnomAD LOEUF score)
- Cytoband
- Xq13.1
- Genomic Coordinates
-
GRCh37/hg19: chrX:70459474-70475047 NCBI Ensembl UCSC GRCh38/hg38: chrX:71239624-71255290 NCBI Ensembl UCSC - MANE Select Transcript
- NM_201599.3 ENST00000314425.9 (Read more about MANE Select)
- Function
- Plays a role in the regulation of cell morphology and cytoskeletal organization. {ECO:0000269|PubMed:21834987}. (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.