ASH1L ASH1 like histone lysine methyltransferase
Gene ID: 55870, updated on 17-Aug-2024Gene type: protein coding
Also known as: ASH1; KMT2H; MRD52; ASH1L1
- See all available tests in GTR for this gene
- Go to complete Gene record for ASH1L
- Go to Variation Viewer for ASH1L variants
Summary
This gene encodes a member of the trithorax group of transcriptional activators. The protein contains four AT hooks, a SET domain, a PHD-finger motif, and a bromodomain. It is localized to many small speckles in the nucleus, and also to cell-cell tight junctions. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Intellectual disability, autosomal dominant 52 | See labs |
Copy number response
| Description |
|---|
| Copy number response Triplosensitivity No evidence available (Last evaluated 2017-12-27) ClinGen Genome Curation PageHaploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2017-12-27) ClinGen Genome Curation PagePubMed |
Genomic context
- Location:
- 1q22
- Sequence:
- Chromosome: 1; NC_000001.11 (155335268..155563202, complement)
- Total number of exons:
- 35
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for ASH1L variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- Variation ViewerRelated Variants
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