EHMT1 |
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)