ASH1L
  • 3
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
ASH1L (HGNC:19088) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
ASH1 like histone lysine methyltransferase
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
huASH1, ASH1, ASH1L1, KMT2H
%HI
23.94(Read more about the DECIPHER Haploinsufficiency Index)
pLI
1(Read more about gnomAD pLI score)
LOEUF
0.1(Read more about gnomAD LOEUF score)
Cytoband
1q22
Genomic Coordinates
GRCh37/hg19: chr1:155305059-155532594 NCBI Ensembl UCSC
GRCh38/hg38: chr1:155335268-155563202 NCBI Ensembl UCSC
MANE Select Transcript
NM_018489.3 ENST00000392403.8 (Read more about MANE Select)
Function
Histone methyltransferase specifically trimethylating 'Lys- 36' of histone H3 forming H3K36me3 (PubMed:21239497). Also monomethylates 'Lys-9' of histone H3 (H3K9me1) in vitro (By similarity). The physiological significance of the H3K9me1 activity is unclear (By similarity). {ECO:0000250|UniProtKB:Q99MY8, ECO:0000269|PubMed:21239497}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-30332
ClinGen Curation ID:
CCID:006697
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Sufficient Evidence for Haploinsufficiency (3)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
12/27/2017

Haploinsufficiency (HI) Score Details

HI Score:
3
HI Evidence Strength:
Sufficient Evidence for Haploinsufficiency (Disclaimer)
HI Disease:
  • Complex Neurodevelopmental Disorder Monarch
HI Evidence:
  • PUBMED: 28191889
    Using targeted sequencing of 91 candidate neurodevelopmental disorder genes, Stessman et al., describe 2 patients with de novo frameshift mutations predicted to disrupt the ASH1L gene. In addition, they reference 3 previously described de novo nonsense and frameshift ASH1L mutations. Collectively, the patients had mild to moderate intellectual disability (5/5), autism spectrum disorders (3/5) and seizures (2/5).
  • PUBMED: 25363760
    De Rubeis et al., performed whole exome sequencing of of 3871 autism cases and detected two de novo loss-of-function mutations in ASH1L in autism probands. Additional phenotypic information was not available for these two patients.
  • PUBMED: 28263302
    Yuen et al., performed whole genome sequencing of 2620 patients with autism spectrum disorders and detected one de novo loss-of-function mutation. Additional phenotypic information was not available for this patient.
HI Evidence Comments:
Additional manuscripts (PMIDs 26350204, 25363768 and others) describe single de novo loss-of-function ASH1L mutations. While most of the mutations described were detected by whole exome or whole genome screening of large patient cohorts and focal deletions of ASH1L have not been published, the supporting statistical analyses and the distribution of de novo loss-of-function mutations in this gene are consistent with a haploinsufficiency mechanism. In addition, many other de novo missense mutations have been described.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
TS Evidence Comments:
No current evidence for triplosensitivity.

Genomic View

Select assembly: (NC_000001.10) (NC_000001.11)