Gene Facts External Data Attribution

HGNC Symbol
EHMT1 (HGNC:24650) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
euchromatic histone lysine methyltransferase 1
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
EHMT1-IT1
Alias symbols
Eu-HMTase1, FLJ12879, KIAA1876, bA188C12.1, KMT1D, FLJ40292, GLP
%HI
62.96(Read more about the DECIPHER Haploinsufficiency Index)
pLI
1(Read more about gnomAD pLI score)
LOEUF
0.07(Read more about gnomAD LOEUF score)
Cytoband
9q34.3
Genomic Coordinates
GRCh37/hg19: chr9:140513457-140730579 NCBI Ensembl UCSC
GRCh38/hg38: chr9:137619005-137836127 NCBI Ensembl UCSC
MANE Select Transcript
NM_024757.5 ENST00000460843.6 (Read more about MANE Select)
Function
Histone methyltransferase that specifically mono- and dimethylates 'Lys-9' of histone H3 (H3K9me1 and H3K9me2, respectively) in euchromatin. H3K9me represents a specific tag for epigenetic transcriptional repression by recruiting HP1 proteins to methylated histones. Also weakly methylates 'Lys-27' of histone H3 (H3K27me). Also required for DNA methylation, the histone methyltransferase activity is not required for DNA methylation, suggesting that these 2 activities function independently. Probab... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-26439
Curation Status:
Awaiting Review
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Awaiting Review
Triplosensitivity:
Awaiting Review
Last Evaluated:
Awaiting Review

Haploinsufficiency (HI) Score Details

Review not yet complete.

Triplosensitivity (TS) Score Details

Review not yet complete.

Genomic View

Select assembly: (NC_000009.11) (NC_000009.12)