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10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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ASH1L
ASH1 like histone lysine methyltransferase
Chromosome 1 Β· 1q22
NCBI Gene: 55870Ensembl: ENSG00000116539.14HGNC: HGNC:19088UniProt: A0A7I2V316
77PubMed Papers
21Diseases
0Drugs
100Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedTranscription Factor
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
histone H3K36 methyltransferase activitynuclear bodynucleoplasmnucleusintellectual disability, autosomal dominant 52Intellectual disabilitygenetic disorderatrial fibrillation
✦AI Summary

ASH1L (ASH1 Like Histone Lysine Methyltransferase) is a chr1-modifying enzyme that catalyzes histone methylation at multiple lysine residues. The protein specifically trimethylates histone H3 at lysine 36 (H3K36me3) and also exhibits H3K4 methyltransferase activity 1. Mechanistically, ASH1L contains C-terminal domains including a plant homeodomain (PHD) finger that recognizes H3K4me2/3, and bromo-adjacent homology (BAH) and bromodomain regions that bind DNA 1. The interaction between the PHD domain and H3K4me3 inhibits ASH1L's H3K36-specific catalytic activity, suggesting a regulatory feedback mechanism 1. ASH1L co-localizes with H3K4me3 at transcription start sites and is involved in embryonic stem cell differentiation 1. Clinically, ASH1L haploinsufficiency is associated with intellectual developmental disorder, autosomal dominant 52 2. De novo mutations in ASH1L have been identified in neurodevelopmental disorders including autism spectrum disorder and intellectual disability 34. Phenotypic presentations include intellectual disability, autism, ADHD, seizures, congenital anomalies, and language disorders 5. ASH1L also plays oncogenic roles in cancers, promoting hepatocellular carcinoma through immunosuppressive mechanisms and gastric cancer via RAS signaling activation 67.

Sources cited
1
ASH1L structure-function relationship, H3K36 and H3K4 methylation activities, and regulatory mechanisms
PMID: 40044670
2
ASH1L haploinsufficiency association with dominant developmental disorders
PMID: 29276005
3
ASH1L as a neurodevelopmental disorder risk gene with de novo mutations
PMID: 28191889
4
Recurrent de novo ASH1L mutations in autism spectrum disorders
PMID: 27824329
5
Expanded phenotypic spectrum of ASH1L variants including language disorders
PMID: 38674358
6
ASH1L promotes hepatocellular carcinoma through immunosuppressive mechanisms
PMID: 39377228
7
ASH1L oncogenic role in gastric cancer via RAS signaling activation
PMID: 37805663
Disease Associationsβ“˜21
intellectual disability, autosomal dominant 52Open Targets
0.81Strong
Intellectual disabilityOpen Targets
0.60Moderate
genetic disorderOpen Targets
0.54Moderate
atrial fibrillationOpen Targets
0.42Moderate
Neurodevelopmental disorderOpen Targets
0.41Moderate
syndromic complex neurodevelopmental disorderOpen Targets
0.40Weak
autosomal dominant non-syndromic intellectual disabilityOpen Targets
0.37Weak
Neurodevelopmental delayOpen Targets
0.34Weak
Abnormality of the skeletal systemOpen Targets
0.34Weak
autism spectrum disorderOpen Targets
0.29Weak
Global developmental delayOpen Targets
0.27Weak
functional neutrophil defectOpen Targets
0.23Weak
allergic rhinitisOpen Targets
0.23Weak
gastric carcinomaOpen Targets
0.21Weak
anemia (phenotype)Open Targets
0.21Weak
prostate carcinomaOpen Targets
0.19Weak
vein disorderOpen Targets
0.18Weak
atrial flutterOpen Targets
0.18Weak
congenital heart diseaseOpen Targets
0.12Weak
Rare genetic intellectual disabilityOpen Targets
0.11Weak
Intellectual developmental disorder, autosomal dominant 52UniProt
Pathogenic Variants100
NM_018489.3(ASH1L):c.4039_4043del (p.Lys1347fs)Pathogenic
Intellectual disability, autosomal dominant 52
β˜…β˜…β˜†β˜†2025β†’ Residue 1347
NM_018489.3(ASH1L):c.6178-2A>GPathogenic
Intellectual disability, autosomal dominant 52
β˜…β˜…β˜†β˜†2025
NM_018489.3(ASH1L):c.3838C>T (p.Arg1280Ter)Pathogenic
Intellectual disability, autosomal dominant 52|Inborn genetic diseases
β˜…β˜…β˜†β˜†2025β†’ Residue 1280
NM_018489.3(ASH1L):c.2905_2908del (p.Lys969fs)Pathogenic
Intellectual disability|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 969
NM_018489.3(ASH1L):c.2332C>T (p.Arg778Ter)Pathogenic
not provided|Intellectual disability, autosomal dominant 52
β˜…β˜…β˜†β˜†2024β†’ Residue 778
NM_018489.3(ASH1L):c.8500C>T (p.Arg2834Ter)Pathogenic
Inborn genetic diseases|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 2834
NM_018489.3(ASH1L):c.4651_4654del (p.Asn1551fs)Likely pathogenic
not provided|Intellectual disability, autosomal dominant 52
β˜…β˜…β˜†β˜†2024β†’ Residue 1551
NM_018489.3(ASH1L):c.4902_4903del (p.Ser1635fs)Pathogenic
ASH1L-related disorder|not provided|Intellectual disability, autosomal dominant 52
β˜…β˜…β˜†β˜†2023β†’ Residue 1635
NM_018489.3(ASH1L):c.5269C>T (p.Arg1757Ter)Likely pathogenic
Intellectual disability, autosomal dominant 52
β˜…β˜…β˜†β˜†2023β†’ Residue 1757
NM_018489.3(ASH1L):c.7603C>T (p.Arg2535Ter)Pathogenic
not provided|Intellectual disability, autosomal dominant 52|Inborn genetic diseases
β˜…β˜…β˜†β˜†2023β†’ Residue 2535
NM_018489.3(ASH1L):c.2134dup (p.Arg712fs)Pathogenic
not provided|Intellectual disability, autosomal dominant 52
β˜…β˜…β˜†β˜†2023β†’ Residue 712
NM_018489.3(ASH1L):c.5129_5151del (p.Gly1710fs)Likely pathogenic
Intellectual disability, autosomal dominant 52
β˜…β˜†β˜†β˜†2025β†’ Residue 1710
NM_018489.3(ASH1L):c.2197_2198insCTTT (p.Gly733fs)Pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2025β†’ Residue 733
NM_018489.3(ASH1L):c.3576_3577del (p.His1192fs)Pathogenic
Intellectual disability, autosomal dominant 52
β˜…β˜†β˜†β˜†2025β†’ Residue 1192
NM_018489.3(ASH1L):c.8707C>T (p.Gln2903Ter)Likely pathogenic
Intellectual disability, autosomal dominant 52
β˜…β˜†β˜†β˜†2025β†’ Residue 2903
NM_018489.3(ASH1L):c.6267del (p.Thr2090fs)Pathogenic
Intellectual disability, autosomal dominant 52
β˜…β˜†β˜†β˜†2025β†’ Residue 2090
NM_018489.3(ASH1L):c.6223+2T>GPathogenic
not provided
β˜…β˜†β˜†β˜†2025
NM_018489.3(ASH1L):c.6103+2T>CPathogenic
Intellectual disability, autosomal dominant 52
β˜…β˜†β˜†β˜†2025
NM_018489.3(ASH1L):c.3828del (p.Gln1278fs)Pathogenic
Intellectual disability, autosomal dominant 52
β˜…β˜†β˜†β˜†2025β†’ Residue 1278
NM_018489.3(ASH1L):c.3136del (p.Tyr1046fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 1046
View on ClinVar β†—
Related Genes
PRDM2Shared pathway100%MLLT10Shared pathway100%KDM5CShared pathway100%KMT2BShared pathway100%NPM3Shared pathway100%CFDP1Shared pathway100%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
92%
Ovary
76%
Heart
67%
Lung
55%
Liver
34%
Gene Interaction Network
Click a node to explore
ASH1LPRDM2MLLT10KDM5CKMT2BNPM3CFDP1
PROTEIN STRUCTURE
Preparing viewer…
PDB8VLF Β· 1.34 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.10Highly Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.07 [0.05–0.10]
RankingsWhere ASH1L stands among ~20K protein-coding genes
  • #6,133of 20,598
    Most Researched77
  • #777of 5,498
    Most Pathogenic Variants100 Β· top quartile
  • #72of 17,882
    Most Constrained (LOEUF)0.10 Β· top 1%
Genes detectedASH1L
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases.
PMID: 28191889
Nat Genet Β· 2017
1.00
2
De novo genic mutations among a Chinese autism spectrum disorder cohort.
PMID: 27824329
Nat Commun Β· 2016
0.90
3
Expansion of the Genotypic and Phenotypic Spectrum of
PMID: 38674358
Genes (Basel) Β· 2024
0.80
4
Structure-function relationship of ASH1L and histone H3K36 and H3K4 methylation.
PMID: 40044670
Nat Commun Β· 2025
0.70
5
ASH1L in Hepatoma Cells and Hepatic Stellate Cells Promotes Fibrosis-Associated Hepatocellular Carcinoma by Modulating Tumor-Associated Macrophages.
PMID: 39377228
Adv Sci (Weinh) Β· 2024
0.60