ZMYND11

  • 3
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
ZMYND11 (HGNC:16966) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
zinc finger MYND-type containing 11
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
BS69, BRAM1
%HI
16.99(Read more about the DECIPHER Haploinsufficiency Index)
pLI
1(Read more about gnomAD pLI score)
LOEUF
0.12(Read more about gnomAD LOEUF score)
Cytoband
10p15.3
Genomic Coordinates
GRCh37/hg19: chr10:176028-300577 NCBI Ensembl UCSC
GRCh38/hg38: chr10:130088-254637 NCBI Ensembl UCSC
MANE Select Transcript
NM_001370100.5 ENST00000381604.9 (Read more about MANE Select)
Function
Chromatin reader that specifically recognizes and binds histone H3.3 trimethylated at 'Lys-36' (H3.3K36me3) and regulates RNA polymerase II elongation. Does not bind other histone H3 subtypes (H3.1 or H3.2) (By similarity). Colocalizes with highly expressed genes and functions as a transcription corepressor by modulating RNA polymerase II at the elongation stage. Binds non-specifically to dsDNA (PubMed:24675531). Acts as a tumor-suppressor by repressing a transcriptional program essential for tu... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-15005
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Sufficient Evidence for Haploinsufficiency (3)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
03/28/2018

Haploinsufficiency (HI) Score Details

HI Score:
3
HI Evidence Strength:
Sufficient Evidence for Haploinsufficiency (Disclaimer)
HI Disease:
  • MENTAL RETARDATION, AUTOSOMAL DOMINANT 30; MRD30 Monarch
HI Evidence:
  • PUBMED: 25217958
    Coe et al. (2014) identified loss-of-function variants in the ZMYND11 gene in seven individuals from six families with autosomal dominant intellectual disability-30 (MRD30) (OMIM # 616083), characterized by developmental delay, mild intellectual disability concurrent with speech and motor delays, as well as complex neuropsychiatric behavioral and characteristic facial features. In this study, one affected individual had inherited the variation from his more mildly affected father. De novo events were observed in two unrelated individuals. Inheritance pattern could not be determined in the remaining three families.
  • PUBMED: 22542183
    Iossifov et al. (2012) identified a de novo splice site variation in a patient with autism spectrum disorder using whole genome sequencing.
  • PUBMED: 27626064
    Moskowitz et al. (2016) reported a de novo missense mutation in ZMYND11 in a patient with global developmental delay, seizures, and hypotonia.
HI Evidence Comments:
Zinc finger MYND-type containing 11 (ZMYND11) gene mutations were identified in individuals with autism spectrum disorder, intellectual disability, aggression, and complex neuropsychiatric features, supporting that this gene is a critical gene in 10p15.3 microdeletion syndrome (PMID: 22847950). Cobben et al (2014) reported a de novo missense mutation in ZMYND11 in a patient with severe developmental delay, hypotonia, feeding difficulties, short stature, and microcephaly. Tumiene et al (2017) compared the clinical phenotypes of patients with 10p15.3 deletions with the phenotypes of patients with loss-of-function ZMYND11 mutations. This study further confirmed that the ZMYND11 gene is the critical gene for the clinical phenotype of 10p15.3 microdeletion syndrome (PMID: 28933030).

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
TS Published Evidence:
  • PUBMED: 23375656
    Girirajan et al (2013) found that copy number gains of ZMYND11 were enriched in autism cohort (2 in 2,588) as opposed to controls (0 in 580 and 0 in 2,090).
TS Evidence Comments:
Copy number gains of ZMYND11 were enriched in autism cohort (2 in 2,588) as opposed to controls (0 in 580 and 0 in 2,090).

Genomic View

Select assembly: (NC_000010.10) (NC_000010.11)