ASH2L

Summary

ASH2L (ASH2 like, histone lysine methyltransferase complex subunit, HGNC:744) is a protein-coding gene on chromosome 8p11.23, encoding Set1/Ash2 histone methyltransferase complex subunit ASH2 (Q9UBL3). Transcriptional regulator. It is a selective cancer dependency (DepMap: 21.4% of cell lines).

Enables beta-catenin binding activity and transcription cis-regulatory region binding activity. Involved in positive regulation of cell population proliferation; response to estrogen; and transcription initiation-coupled chromatin remodeling. Acts upstream of or within DNA damage response. Located in nucleus. Part of MLL1 complex; MLL3/4 complex; and Set1C/COMPASS complex.

Source: NCBI Gene 9070 — RefSeq curated summary.

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 89 total — 1 likely-pathogenic
• Druggable target: yes — 1 molecules with ChEMBL bioactivity
• Cancer dependency (DepMap): dependent in 21.4% of screened cell lines
• MANE Select transcript: NM_004674

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:744
Approved symbol	ASH2L
Name	ASH2 like, histone lysine methyltransferase complex subunit
Location	8p11.23
Locus type	gene with protein product
Status	Approved
Aliases	ASH2L2, ASH2, Bre2
Ensembl gene	ENSG00000129691
Ensembl biotype	protein_coding
OMIM	604782
Entrez	9070

Gene structure

Transcript identifiers

Ensembl transcripts: 34 — 29 protein_coding, 3 retained_intron, 1 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined

ENST00000343823, ENST00000428278, ENST00000517496, ENST00000517719, ENST00000518186, ENST00000520079, ENST00000521652, ENST00000521808, ENST00000522675, ENST00000524247, ENST00000524263, ENST00000545394, ENST00000899868, ENST00000899869, ENST00000899870, ENST00000899871, ENST00000899872, ENST00000899873, ENST00000899874, ENST00000899875, ENST00000899876, ENST00000899877, ENST00000937171, ENST00000937172, ENST00000971636, ENST00000971637, ENST00000971638, ENST00000971639, ENST00000971640, ENST00000971641, ENST00000971642, ENST00000971643, ENST00000971644, ENST00000971645

RefSeq mRNA: 4 — MANE Select: NM_004674 NM_001105214, NM_001261832, NM_001282272, NM_004674

CCDS: CCDS47840, CCDS59100, CCDS6101, CCDS64872

Canonical transcript exons

ENST00000343823 — 16 exons

Exon	Start	End
ENSE00002140042	38105529	38105738
ENSE00003498882	38110739	38110833
ENSE00003502473	38114905	38115000
ENSE00003517179	38114192	38114287
ENSE00003525018	38128758	38128951
ENSE00003531996	38107021	38107166
ENSE00003533886	38138816	38138875
ENSE00003553219	38116650	38116725
ENSE00003564169	38106378	38106444
ENSE00003585269	38119270	38119363
ENSE00003597061	38135668	38135766
ENSE00003602953	38110379	38110467
ENSE00003618668	38133454	38133546
ENSE00003624465	38120932	38121149
ENSE00003668785	38128291	38128458
ENSE00003729874	38138964	38140080

Expression profiles

Bgee: expression breadth ubiquitous, 290 present calls, max score 95.39.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 21.7097 / max 252.8718, expressed in 1817 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
88469	15.4483	1808
88470	3.4713	1234
88471	2.5152	424
88472	0.1853	77
88473	0.0896	45

Top tissues by expression

295 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
superficial temporal artery	UBERON:0001614	95.39	gold quality
germinal epithelium of ovary	UBERON:0001304	94.80	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	94.56	gold quality
trabecular bone tissue	UBERON:0002483	94.48	gold quality
gingival epithelium	UBERON:0001949	94.12	gold quality
ventricular zone	UBERON:0003053	93.34	gold quality
tibialis anterior	UBERON:0001385	93.26	gold quality
embryo	UBERON:0000922	92.90	gold quality
mucosa of paranasal sinus	UBERON:0005030	92.87	silver quality
right testis	UBERON:0004534	92.79	gold quality
bone marrow	UBERON:0002371	92.68	gold quality
adult organism	UBERON:0007023	92.68	gold quality
gingiva	UBERON:0001828	92.51	gold quality
ganglionic eminence	UBERON:0004023	92.47	gold quality
left testis	UBERON:0004533	92.40	gold quality
muscle of leg	UBERON:0001383	92.31	gold quality
gastrocnemius	UBERON:0001388	92.25	gold quality
testis	UBERON:0000473	92.16	gold quality
prefrontal cortex	UBERON:0000451	91.89	gold quality
deltoid	UBERON:0001476	91.88	gold quality
ovary	UBERON:0000992	91.85	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	91.83	gold quality
parietal pleura	UBERON:0002400	91.78	gold quality
muscle organ	UBERON:0001630	91.60	gold quality
hindlimb stylopod muscle	UBERON:0004252	91.57	gold quality
tonsil	UBERON:0002372	91.52	gold quality
parotid gland	UBERON:0001831	91.50	gold quality
cortical plate	UBERON:0005343	91.49	gold quality
esophagus squamous epithelium	UBERON:0006920	91.49	gold quality
hair follicle	UBERON:0002073	91.47	silver quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	7.35
E-MTAB-7249	no	197.41

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

47 targeting ASH2L, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-513A-5P	100.00	69.77	2465
HSA-MIR-450A-1-3P	100.00	69.33	1837
HSA-MIR-9-5P	100.00	72.28	2361
HSA-MIR-27A-3P	99.98	72.13	2955
HSA-MIR-27B-3P	99.98	72.13	2955
HSA-MIR-9985	99.98	72.11	2939
HSA-MIR-1-3P	99.93	72.35	1914
HSA-MIR-206	99.93	72.50	1893
HSA-MIR-205-3P	99.92	69.92	3165
HSA-MIR-613	99.91	71.50	1710
HSA-MIR-4698	99.84	71.41	4303
HSA-MIR-4760-5P	99.80	69.88	1619
HSA-MIR-320A-3P	99.77	69.73	2107
HSA-MIR-320B	99.77	69.73	2107
HSA-MIR-320C	99.77	69.73	2107
HSA-MIR-320D	99.77	69.73	2107
HSA-MIR-4429	99.77	69.62	2111
HSA-MIR-4524A-3P	99.72	66.85	2406
HSA-MIR-12124	99.68	69.17	2700
HSA-MIR-3934-5P	99.67	64.04	846
HSA-MIR-3175	99.65	66.30	2031
HSA-MIR-325	99.58	66.55	358
HSA-MIR-18A-3P	99.56	65.68	1092
HSA-MIR-451B	99.55	68.28	1380
HSA-MIR-520A-5P	99.35	66.72	1632
HSA-MIR-525-5P	99.35	66.85	1615
HSA-MIR-361-3P	99.19	66.45	1381
HSA-MIR-491-5P	99.13	65.98	1468
HSA-MIR-511-5P	98.97	70.94	2268
HSA-MIR-129-1-3P	98.86	68.41	779

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 21.4% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 31)

• These findings offer insight into the molecular role of ASH2L, and by extension that of WDR5, in proper H3K4 trimethylation. (PMID:16892064)
• Although hASH2 expression at the mRNA level was not deregulated, hASH2 protein expression was increased in most human tumors and tumor cell lines. Knockdown of hASH2 inhibited tumor cell proliferation. These show hASH2 as a novel oncoprotein. (PMID:18245475)
• The identified components revealed factors involved in histone methylation and cell cycle control and include Ash2L, RbBP5, WDR5, HCF-1, DBC-1, and EMSY. (PMID:19131338)
• high dimethylation of histone H3 at lysine 4 expression is rare in hepatocellular carcinoma compared with other carcinomas, possibly due to complex epigenetic regulation involving Ash2 (PMID:19896696)
• Results show that Depletion of CHD8 enhances HOXA2 expression and a loss of the WDR5/Ash2L/RbBP5 subcomplex. (PMID:20085832)
• Ash2l and Saf-A are recruited to the inactive X chromosome at the onset of stable X inactivation. (PMID:20150277)
• Data suggest that both Ash2L/RbBP5 and the MLL1 SET domain make direct contacts with the substrates and contribute to the formation of a joint catalytic center. (PMID:21124902)
• Protein-arginine methyltransferase 1 (PRMT1) methylates Ash2L, a shared component of mammalian histone H3K4 methyltransferase complexes. (PMID:21285357)
• NF-Y acts upstream of H3K4me3 deposition by recruiting Ash2L (PMID:21445285)
• ASH2L binds DNA using a forkhead-like helix-wing-helix (HWH) domain. (PMID:21642971)
• The structure shows that Ash2L contains an atypical PHD finger that does not have histone tail-binding activity. (PMID:21660059)
• crystal structure of the C-terminal SPRY domain of human Ash2L (PMID:22231628)
• H2B dependent regulation of MLL family histone methylatransferases depends on the N-terminal WH motif of ASH2L. (PMID:23453805)
• Data indicate that MLL1 methylates Ash2L in the absence of histone H3, but only when assembled within a complex with WDR5 and RbBP5. (PMID:24235145)
• Non active site mutations in the MLL1 SET domain render the protein defective for H3K4 dimethylation by the MLL1 core complex, which is associated with a loss of the ability of MLL1 to interact with WRAD or with the RbBP5/Ash2L heterodimer. (PMID:24680668)
• Ash2L acts in concert with P53 promoter occupancy to activate RNA Polymerase II by aiding formation of a stable transcription pre-initiation complex required for its activation. (PMID:25023704)
• ASH2L enhances ERalpha expression as a coactivator of GATA3 in breast cancers (PMID:25258321)
• the histone methyltransferase core enzyme ASH2L was bound at EGFR in the germinal matrix and in gliomas where levels of H3K4me3 are high, and the histone acetyltransferase P300 was bound in samples with H3K27ac enrichment (PMID:25996283)
• Overall, epigenetic modulation is a promising approach to evaluate the role of chromatin structure for the radioresponsiveness of glioma cell lines. (PMID:28044469)
• different cancer mutations in MLL1 lead to a loss or increase in activity, illustrating the complex and tumor-specific role of MLL1 in carcinogenesis. (PMID:28182322)
• our results suggest that ASH2L contributes to leukemogenesis by cooperating with other proteins that aberrantly upregulate cellular growth and proliferation pathways. (PMID:28185526)
• Data suggest an interplay between megakaryocytic leukemia 1 (MKL1) and ASH2 protein to promote tumor necrosis factor alpha (TNF-alpha) induced proinflammatory transcription in macrophages. (PMID:28218970)
• berrant histone methylation of IFN-gamma associating H3K4me3 and H3K27me3 caused by over-binding of Ash2L and Jmjd3 might be involved in immune dysfunction and vascular damage in Kawasaki disease in the acute phase. (PMID:29036979)
• Circ-ASH2L served as a miRNA sponge for miR-34a and promoted tumor progression in vivo. Finally, we analyzed circ-ASH2L expression in clinical tissues and found that high circ-ASH2L expression was correlated with lymphatic invasion and TNM stage and was an independent risk factor for pancreatic patient survival. (PMID:31718694)
• unliganded glucocorticoid receptor and ASH2L may act as key regulatory players of BCL- XL upregulation in acute myeloid leukemia cells. (PMID:31870784)
• Cancer-derived UTX TPR mutations G137V and D336G impair interaction with MLL3/4 complexes and affect UTX subcellular localization. (PMID:32071397)
• Our findings suggest that ASH2L participates in the promotion of endometrial cancer progression, if not totally at least partially, via upregulation of PAX2 transcription. (PMID:32279431)
• ASH2L drives proliferation and sensitivity to bleomycin and other genotoxins in Hodgkin’s lymphoma and testicular cancer cells. (PMID:33257682)
• CircASH2L facilitates tumor-like biologic behaviours and inflammation of fibroblast-like synoviocytes via miR-129-5p/HIPK2 axis in rheumatoid arthritis. (PMID:33964939)
• Mechanism for DPY30 and ASH2L intrinsically disordered regions to modulate the MLL/SET1 activity on chromatin. (PMID:34012049)
• ASH2L, a COMPASS core subunit, is involved in the cell invasion and migration of triple-negative breast cancer cells through the epigenetic control of histone H3 lysine 4 methylation. (PMID:37262949)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	ash2l	ENSDARG00000060392
mus_musculus	Ash2l	ENSMUSG00000031575
rattus_norvegicus	Ash2l	ENSRNOG00000014875
drosophila_melanogaster	ash2	FBGN0000139
caenorhabditis_elegans		WBGENE00012458

Protein

Protein identifiers

Set1/Ash2 histone methyltransferase complex subunit ASH2 — Q9UBL3 (reviewed: Q9UBL3)

Alternative names: ASH2-like protein

All UniProt accessions (6): Q9UBL3, E5RFH5, E5RHM1, F5H8F7, H0YAQ0, H0YBF6

UniProt curated annotations — full annotation on UniProt →

Function. Transcriptional regulator. Component or associated component of some histone methyltransferase complexes which regulates transcription through recruitment of those complexes to gene promoters. Component of the Set1/Ash2 histone methyltransferase (HMT) complex, a complex that specifically methylates ‘Lys-4’ of histone H3, but not if the neighboring ‘Lys-9’ residue is already methylated. As part of the MLL1/MLL complex it is involved in methylation and dimethylation at ‘Lys-4’ of histone H3. May play a role in hematopoiesis. In association with RBBP5 and WDR5, stimulates the histone methyltransferase activities of KMT2A, KMT2B, KMT2C, KMT2D, SETD1A and SETD1B.

Subunit / interactions. Interacts with HCFC1. Core component of several methyltransferase-containing complexes including MLL1/MLL, MLL2/3 (also named ASCOM complex) and MLL4/WBP7. Each complex is at least composed of ASH2L, RBBP5, WDR5, DPY30, one or more specific histone methyltransferases (KMT2A/MLL1, KMT2D/MLL2, KMT2C/MLL3 and KMT2B/MLL4), and the facultative components PAGR1, BACC1, CHD8, E2F6, HCFC1, HCFC2, HSP70, INO80C, KDM6A, KANSL1, LAS1L, MAX, MCRS1, MEN1, MGA, KAT8/MOF, NCOA6, PAXIP1/PTIP, PELP1, PHF20, PRP31, RING2, RUVB1/TIP49A, RUVB2/TIP49B, SENP3, TAF1, TAF4, TAF6, TAF7, TAF9, TEX10 and alpha- and beta-tubulin. Component of the SET1 complex, at least composed of the catalytic subunit (SETD1A or SETD1B), WDR5, WDR82, RBBP5, ASH2L/ASH2, CXXC1/CFP1, HCFC1 and DPY30. Found in a complex with RBBP5, ASH2L, DPY30, KMT2A, KMT2D and WDR5. Component of a histone methylation complex composed of at least ZNF335, RBBP5, ASH2L and WDR5; the complex may have histone H3-specific methyltransferase activity, however does not have specificity for ‘Lys-4’ of histone H3. Within the complex, interacts with ZNF335. Interacts with RBBP5. Components of this complex may associate with components of a nuclear receptor-mediated transcription complex to form a complex at least composed of ZNF335, HCFC1, CCAR2, EMSY, MKI67, RBBP5, ASH2L and WDR5. Within this complex also interacts with CCAR2 and EMSY. Interacts with DPY30. Interacts with SETD1A and SETD1B.

Subcellular location. Nucleus.

Tissue specificity. Ubiquitously expressed. Predominantly expressed in adult heart and testis and fetal lung and liver, with barely detectable expression in adult lung, liver, kidney, prostate, and peripheral leukocytes.

Post-translational modifications. Both monomethylated and dimethylated on arginine residues in the C-terminus. Arg-296 is the major site. Methylation is not required for nuclear localization, nor for MLL complex integrity or maintenance of global histone H3K4me3 levels.

Isoforms (3)

UniProt ID	Names	Canonical?
Q9UBL3-1	1, ASH2L1	yes
Q9UBL3-2	2, ASH2L2
Q9UBL3-3	3

RefSeq proteins (4): NP_001098684, NP_001248761, NP_001269201, NP_004665* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001870	B30.2/SPRY	Domain
IPR003877	SPRY_dom	Domain
IPR013320	ConA-like_dom_sf	Homologous_superfamily
IPR037353	ASH2	Family
IPR043136	B30.2/SPRY_sf	Homologous_superfamily
IPR049455	ASH2-like_PHD	Domain
IPR053835	ASH2L-like_WH	Domain

Pfam: PF00622, PF21198, PF21257

UniProt features (72 total): strand 24, helix 11, sequence conflict 6, compositionally biased region 5, modified residue 5, turn 5, binding site 4, region of interest 4, splice variant 2, mutagenesis site 2, chain 1, domain 1, zinc finger region 1, sequence variant 1

Structure

Experimental structures (PDB)

32 structures, top 30 by resolution.

PDB	Method	Resolution (Å)
5F6L	X-RAY DIFFRACTION	1.9
3TOJ	X-RAY DIFFRACTION	2.07
3RSN	X-RAY DIFFRACTION	2.1
4X8N	X-RAY DIFFRACTION	2.1
7W67	X-RAY DIFFRACTION	2.19
4X8P	X-RAY DIFFRACTION	2.2
7W6A	X-RAY DIFFRACTION	2.21
4RIQ	X-RAY DIFFRACTION	2.23
6E2H	X-RAY DIFFRACTION	2.24
7W6L	X-RAY DIFFRACTION	2.26
5F6K	X-RAY DIFFRACTION	2.41
3S32	X-RAY DIFFRACTION	2.45
7W6I	X-RAY DIFFRACTION	2.56
7W6J	X-RAY DIFFRACTION	2.68
7BRE	X-RAY DIFFRACTION	2.8
6KIU	ELECTRON MICROSCOPY	3.2
9YM8	ELECTRON MICROSCOPY	3.43
9YMF	ELECTRON MICROSCOPY	3.45
9YL3	ELECTRON MICROSCOPY	3.5
9YLE	ELECTRON MICROSCOPY	3.63
9YLY	ELECTRON MICROSCOPY	3.77
6KIV	ELECTRON MICROSCOPY	4
6KIW	ELECTRON MICROSCOPY	4
7MBN	ELECTRON MICROSCOPY	4.02
6KIX	ELECTRON MICROSCOPY	4.1
7UD5	ELECTRON MICROSCOPY	4.25
6KIZ	ELECTRON MICROSCOPY	4.5
6W5M	ELECTRON MICROSCOPY	4.6
7MBM	ELECTRON MICROSCOPY	4.76
6W5N	ELECTRON MICROSCOPY	6

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9UBL3-F1	77.27	0.52

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Ligand- & substrate-binding residues (4): 117; 120; 147; 150

Post-translational modifications (5): 101, 296, 316, 1, 1

Mutagenesis-validated functional residues (2):

Position	Phenotype
296	abolishes methylation.
300	slightly decreased methylation.

Function

Pathways and Gene Ontology

Reactome pathways

25 pathways

ID	Pathway
R-HSA-201722	Formation of the beta-catenin:TCF transactivating complex
R-HSA-3214841	PKMTs methylate histone lysines
R-HSA-3769402	Deactivation of the beta-catenin transactivating complex
R-HSA-5617472	Activation of anterior HOX genes in hindbrain development during early embryogenesis
R-HSA-8936459	RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function
R-HSA-9772755	Formation of WDR5-containing histone-modifying complexes
R-HSA-9818564	Epigenetic regulation of gene expression by MLL3 and MLL4 complexes
R-HSA-9841922	MLL4 and MLL3 complexes regulate expression of PPARG target genes in adipogenesis and hepatic steatosis
R-HSA-9909649	Regulation of PD-L1(CD274) transcription
R-HSA-9944997	Loss of Function of KMT2D in MLL4 Complex Formation in Kabuki Syndrome
R-HSA-9976102	Differentiation of naive CD4+ T cells to T helper 2 cells (Th2 cells)
R-HSA-1266738	Developmental Biology
R-HSA-162582	Signal Transduction
R-HSA-195721	Signaling by WNT
R-HSA-201681	TCF dependent signaling in response to WNT
R-HSA-212165	Epigenetic regulation of gene expression
R-HSA-212436	Generic Transcription Pathway
R-HSA-3247509	Chromatin modifying enzymes
R-HSA-4839726	Chromatin organization
R-HSA-5619507	Activation of HOX genes during differentiation
R-HSA-73857	RNA Polymerase II Transcription
R-HSA-74160	Gene expression (Transcription)
R-HSA-8878171	Transcriptional regulation by RUNX1
R-HSA-9851695	Epigenetic regulation of adipogenesis genes by MLL3 and MLL4 complexes
R-HSA-9917777	Epigenetic regulation by WDR5-containing histone modifying complexes

MSigDB gene sets: 190 (showing top): GSE18804_SPLEEN_MACROPHAGE_VS_BRAIN_TUMORAL_MACROPHAGE_DN, YAGI_AML_WITH_INV_16_TRANSLOCATION, REACTOME_ADAPTIVE_IMMUNE_SYSTEM, MONNIER_POSTRADIATION_TUMOR_ESCAPE_UP, GOBP_RESPONSE_TO_ESTROGEN, GOBP_DNA_DAMAGE_RESPONSE, GOBP_DNA_TEMPLATED_TRANSCRIPTION_INITIATION, GOBP_TRANSCRIPTION_INITIATION_AT_RNA_POLYMERASE_II_PROMOTER, GOBP_RESPONSE_TO_HORMONE, DING_LUNG_CANCER_EXPRESSION_BY_COPY_NUMBER, MORF_AATF, YAMAZAKI_TCEB3_TARGETS_DN, GOBP_CHROMATIN_REMODELING, DANG_BOUND_BY_MYC, SPIELMAN_LYMPHOBLAST_EUROPEAN_VS_ASIAN_DN

GO Biological Process (8): DNA damage response (GO:0006974), positive regulation of cell population proliferation (GO:0008284), hemopoiesis (GO:0030097), response to estrogen (GO:0043627), transcription initiation-coupled chromatin remodeling (GO:0045815), chromatin organization (GO:0006325), regulation of gene expression (GO:0010468), positive regulation of macromolecule biosynthetic process (GO:0010557)

GO Molecular Function (6): transcription cis-regulatory region binding (GO:0000976), beta-catenin binding (GO:0008013), zinc ion binding (GO:0008270), DNA binding (GO:0003677), protein binding (GO:0005515), metal ion binding (GO:0046872)

GO Cellular Component (7): nucleus (GO:0005634), nucleoplasm (GO:0005654), histone methyltransferase complex (GO:0035097), MLL1/2 complex (GO:0044665), MLL3/4 complex (GO:0044666), Set1C/COMPASS complex (GO:0048188), MLL1 complex (GO:0071339)

Reactome top-level categories

Rollup of top-15 pathways:

Category	Pathways
TCF dependent signaling in response to WNT	2
Epigenetic regulation by WDR5-containing histone modifying complexes	2
Chromatin modifying enzymes	1
Activation of HOX genes during differentiation	1
Transcriptional regulation by RUNX1	1
Epigenetic regulation of adipogenesis genes by MLL3 and MLL4 complexes	1
Regulation of PD-L1(CD274) expression	1
Loss of Function of KMT2D in Kabuki Syndrome	1
Differentiation of T cells	1
Signal Transduction	1
Signaling by WNT	1
Gene expression (Transcription)	1
RNA Polymerase II Transcription	1
Chromatin organization	1
Developmental Biology	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
histone methyltransferase complex	3
regulation of macromolecule biosynthetic process	2
cellular response to stress	1
cell population proliferation	1
regulation of cell population proliferation	1
positive regulation of cellular process	1
cell development	1
response to hormone	1
transcription initiation at RNA polymerase II promoter	1
positive regulation of gene expression, epigenetic	1
cellular component organization	1
gene expression	1
macromolecule biosynthetic process	1
positive regulation of biosynthetic process	1
positive regulation of macromolecule metabolic process	1
transcription regulatory region nucleic acid binding	1
sequence-specific double-stranded DNA binding	1
protein binding	1
transition metal ion binding	1
nucleic acid binding	1
binding	1
cation binding	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
cellular anatomical structure	1
nucleoplasm	1
methyltransferase complex	1
nuclear protein-containing complex	1
MLL1/2 complex	1

Protein interactions and networks

STRING

2092 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ASH2L	RBBP5	Q15291	999
ASH2L	WDR5	P61964	999
ASH2L	DPY30	Q9C005	999
ASH2L	SETD1A	O15047	998
ASH2L	KMT2C	Q8NEZ4	996
ASH2L	WDR82	Q6UXN9	996
ASH2L	SDC1	P18827	989
ASH2L	SETD1B	Q9UPS6	985
ASH2L	HCFC1	P51610	983
ASH2L	CXXC1	Q9P0U4	978
ASH2L	PAXIP1	Q6ZW49	973
ASH2L	NCOA6	Q14686	940
ASH2L	KMT2A	Q03164	925
ASH2L	KDM6A	O15550	896
ASH2L	PAGR1	Q9BTK6	891

IntAct

257 interactions, top by confidence:

A	B	Type	Score
ASH2L	RBBP5	psi-mi:“MI:0915”(physical association)	0.980
RBBP5	ASH2L	psi-mi:“MI:0915”(physical association)	0.980
RBBP5	ASH2L	psi-mi:“MI:0407”(direct interaction)	0.980
ASH2L	RBBP5	psi-mi:“MI:0914”(association)	0.980
ASH2L	RBBP5	psi-mi:“MI:0407”(direct interaction)	0.980
DPY30	ASH2L	psi-mi:“MI:0915”(physical association)	0.970
ASH2L	DPY30	psi-mi:“MI:0915”(physical association)	0.970
DPY30	ASH2L	psi-mi:“MI:0407”(direct interaction)	0.970
RBBP5	WDR5	psi-mi:“MI:0915”(physical association)	0.960
RBBP5	WDR5	psi-mi:“MI:0914”(association)	0.960
ASH2L	WDR5	psi-mi:“MI:0915”(physical association)	0.950
ASH2L	WDR5	psi-mi:“MI:0914”(association)	0.950
ASH2L	WDR5	psi-mi:“MI:0403”(colocalization)	0.950
ASH2L	NCOA6	psi-mi:“MI:0914”(association)	0.930

BioGRID (592): ASH2L (Affinity Capture-Western), ASH2L (Reconstituted Complex), ASH2L (Two-hybrid), DPY30 (Two-hybrid), ASH2L (Reconstituted Complex), ASH2L (Co-localization), ASH2L (Affinity Capture-Western), ASH2L (Affinity Capture-Western), ASH2L (Affinity Capture-Western), SETD1A (Affinity Capture-Western), RBBP5 (Affinity Capture-Western), WDR5 (Affinity Capture-Western), CXXC1 (Affinity Capture-Western), WDR82 (Affinity Capture-Western), HCFC1 (Affinity Capture-Western)

ESM2 similar proteins: A0JMA8, A1A5P5, A1L252, A1YVX4, A3KMI0, A3KMV8, A6H8H2, F4HYD7, F4HYJ7, O73630, O94712, P29375, P41229, P41230, P69566, Q04861, Q1LUS8, Q28FM1, Q30DN6, Q32SG6, Q38JA7, Q3B8D5, Q3UXZ9, Q4R8E0, Q5F3R2, Q5U245, Q5VZ89, Q5XUN4, Q62240, Q63185, Q6IQX0, Q6P158, Q6P5D3, Q6VN19, Q6VN20, Q7Z3E5, Q7Z401, Q80Y84, Q94545, Q96S59

Diamond homologs: G5EFZ3, Q90WU3, Q91X20, Q94545, Q9C8J7, Q9UBL3, A2AGL3, B0LPN4, E9PZQ0, E9Q401, F1LMY4, P11716, P11881, P16960, P21817, P29994, P29995, P30957, P70227, Q14571, Q14573, Q14643, Q15413, Q19614, Q24498, Q5R881, Q5XPI4, Q63269, Q8BVR6, Q8WN95, Q8WN96, Q92736, Q95LP3, Q96DX4, Q9SIZ8, Q9TS33, Q9TU34, Q9VNV3, Q9Y0A1, Q9Z329

SIGNOR signaling

5 interactions.

A	Effect	B	Mechanism
ASH2L	“form complex”	HMT	binding
MEF2D	up-regulates	ASH2L
ASH2L	up-regulates	GATA3	binding
ASH2L	“up-regulates activity”	TBX1	binding
ASH2L	“form complex”	“Set1-Ash2 HMT complex”	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 130 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Formation of WDR5-containing histone-modifying complexes	16	42.5×	5e-20
Deactivation of the beta-catenin transactivating complex	10	23.3×	3e-09
Epigenetic regulation of gene expression by MLL3 and MLL4 complexes	11	21.7×	8e-10
Epigenetic regulation by WDR5-containing histone modifying complexes	10	15.4×	9e-08
Epigenetic regulation of adipogenesis genes by MLL3 and MLL4 complexes	6	12.9×	2e-04
PKMTs methylate histone lysines	8	12.9×	9e-06
Formation of the beta-catenin:TCF transactivating complex	10	12.0×	8e-07
Activation of anterior HOX genes in hindbrain development during early embryogenesis	13	11.9×	1e-08

GO biological processes:

GO term	Partners	Fold	FDR
sarcomere organization	5	16.5×	1e-03
transcription initiation-coupled chromatin remodeling	5	16.5×	1e-03
positive regulation of miRNA transcription	6	15.0×	5e-04
skeletal muscle cell differentiation	5	14.8×	2e-03
regulation of circadian rhythm	5	11.2×	5e-03
chromatin remodeling	13	8.2×	2e-06
cellular response to hypoxia	7	7.3×	3e-03
chromatin organization	7	6.0×	8e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

89 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	1
Uncertain significance	64
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
402148	NM_004674.5(ASH2L):c.1726A>G (p.Ile576Val)	Likely pathogenic

SpliceAI

2630 predictions. Top by Δscore:

Variant	Effect	Δscore
8:38106376:AG:A	acceptor_gain	1.0000
8:38106377:GG:G	acceptor_gain	1.0000
8:38106377:GGGA:G	acceptor_gain	1.0000
8:38106440:CACTA:C	donor_gain	1.0000
8:38106441:ACTA:A	donor_gain	1.0000
8:38106441:ACTAG:A	donor_loss	1.0000
8:38106442:CTA:C	donor_gain	1.0000
8:38106442:CTAGT:C	donor_loss	1.0000
8:38106443:TA:T	donor_gain	1.0000
8:38106444:AGTAA:A	donor_loss	1.0000
8:38106445:G:A	donor_loss	1.0000
8:38106445:G:GG	donor_gain	1.0000
8:38106446:TA:T	donor_loss	1.0000
8:38106447:AAGTA:A	donor_loss	1.0000
8:38110464:GCAA:G	donor_gain	1.0000
8:38110468:G:GG	donor_gain	1.0000
8:38110829:A:G	donor_gain	1.0000
8:38114901:TTA:T	acceptor_loss	1.0000
8:38114902:TA:T	acceptor_loss	1.0000
8:38114903:A:AG	acceptor_gain	1.0000
8:38114904:G:GC	acceptor_gain	1.0000
8:38114904:GA:G	acceptor_gain	1.0000
8:38114904:GAGT:G	acceptor_gain	1.0000
8:38114904:GAGTA:G	acceptor_gain	1.0000
8:38114997:TCAGG:T	donor_loss	1.0000
8:38114998:CAGGT:C	donor_loss	1.0000
8:38114999:AGG:A	donor_loss	1.0000
8:38115000:GGTAC:G	donor_loss	1.0000
8:38115001:G:GA	donor_loss	1.0000
8:38115002:T:A	donor_loss	1.0000

AlphaMissense

4130 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
8:38107109:T:C	L115P	1.000
8:38107114:T:A	C117S	1.000
8:38107114:T:C	C117R	1.000
8:38107115:G:A	C117Y	1.000
8:38107115:G:C	C117S	1.000
8:38107116:T:G	C117W	1.000
8:38107123:T:A	C120S	1.000
8:38107123:T:C	C120R	1.000
8:38107124:G:A	C120Y	1.000
8:38107124:G:C	C120S	1.000
8:38107125:T:G	C120W	1.000
8:38107132:T:A	W123R	1.000
8:38107132:T:C	W123R	1.000
8:38107134:G:C	W123C	1.000
8:38107134:G:T	W123C	1.000
8:38110411:T:C	F145S	1.000
8:38110416:T:A	C147S	1.000
8:38110416:T:C	C147R	1.000
8:38110417:G:A	C147Y	1.000
8:38110417:G:C	C147S	1.000
8:38110417:G:T	C147F	1.000
8:38110418:C:G	C147W	1.000
8:38110425:T:A	C150S	1.000
8:38110425:T:C	C150R	1.000
8:38110426:G:A	C150Y	1.000
8:38110426:G:C	C150S	1.000
8:38110427:C:G	C150W	1.000
8:38110753:T:C	C169R	1.000
8:38110755:C:G	C169W	1.000
8:38110763:C:A	A172D	1.000

dbSNP variants (sampled 300 via entrez): RS1000015496 (8:38133384 C>A,T), RS1000151866 (8:38113914 G>A), RS1000154867 (8:38126397 A>C,T), RS1000267002 (8:38109102 C>A,T), RS1000290910 (8:38130562 G>A), RS1000574623 (8:38107772 T>C), RS1000656064 (8:38105126 A>C), RS1000838057 (8:38135137 C>T), RS1000845901 (8:38116908 T>G), RS1000899468 (8:38128721 A>G,T), RS1000921355 (8:38105326 T>A,C), RS1000952278 (8:38134879 G>A,T), RS1001238279 (8:38110342 C>T), RS1001259672 (8:38126621 G>A,C), RS1001269197 (8:38110653 A>G)

Disease associations

OMIM: gene MIM:604782 | disease phenotypes:

GenCC curated gene-disease

Mondo (1): intellectual disability (MONDO:0001071)

Orphanet (1): NON RARE IN EUROPE: Unexplained intellectual disability (Orphanet:319658)

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST001381_18	Menopause (age at onset)	9.000000e-15
GCST006803_65	Schizophrenia	6.000000e-10
GCST011359_10	Venous thromboembolism	3.000000e-11

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004704	age at menopause

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D008607	Intellectual Disability	C10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (3): CHEMBL3108650 (SINGLE PROTEIN), CHEMBL3137282 (PROTEIN COMPLEX), CHEMBL4106124 (PROTEIN-PROTEIN INTERACTION)

Molecules with ChEMBL bioactivity

1 molecules (phase ≥1), by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 1,538 (via chembl_molecule»patent_compound — counts attach to the compound, not the gene–compound relationship, so off-target/promiscuous molecules can dominate).

Molecule	Name	Phase	Patents
CHEMBL1232461	MOLIBRESIB	2	1,538

PharmGKB: 1 entry (VIP=true, CPIC=false)

ChEMBL bioactivities

47 potent at pChembl≥5 of 49 total, top 45 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
7.90	IC50	12.6	nM	CHEMBL4073865
7.90	IC50	12.7	nM	CHEMBL4103117
7.82	IC50	15.2	nM	CHEMBL4648206
7.66	IC50	21.8	nM	CHEMBL4646694
7.59	IC50	25.5	nM	CHEMBL4645555
7.53	IC50	29.6	nM	CHEMBL4632716
7.33	IC50	46.8	nM	CHEMBL4649421
7.25	IC50	55.6	nM	CHEMBL4633548
7.22	Kd	60	nM	MOLIBRESIB
7.18	IC50	66.5	nM	CHEMBL4641078
7.16	IC50	70	nM	MOLIBRESIB
7.14	IC50	72.4	nM	CHEMBL4643465
7.07	IC50	84.8	nM	CHEMBL4094433
7.00	IC50	99.5	nM	CHEMBL4637676
6.92	IC50	119	nM	CHEMBL4636460
6.91	IC50	124	nM	CHEMBL4102238
6.90	IC50	127	nM	CHEMBL4638858
6.88	IC50	132	nM	CHEMBL4647930
6.86	IC50	138	nM	CHEMBL4092028
6.86	IC50	138.4	nM	CHEMBL4638624
6.82	IC50	150.2	nM	CHEMBL4635991
6.72	IC50	190	nM	CHEMBL3884329
6.72	IC50	190	nM	CHEMBL4064300
6.70	IC50	201	nM	CHEMBL4649846
6.67	IC50	216	nM	CHEMBL4072805
6.63	IC50	234	nM	CHEMBL4635424
6.52	IC50	300	nM	CHEMBL3798088
6.52	IC50	300	nM	CHEMBL3884726
6.43	IC50	373	nM	CHEMBL4099772
6.40	IC50	400	nM	CHEMBL3883592
6.35	IC50	451	nM	CHEMBL4641985
6.34	IC50	452	nM	CHEMBL4084272
6.32	IC50	477	nM	CHEMBL4086696
6.24	IC50	578	nM	CHEMBL3799591
6.23	IC50	592	nM	CHEMBL4633905
6.14	IC50	724	nM	S-ADENOSYLHOMOCYSTEINE
6.13	IC50	744	nM	CHEMBL4078842
6.12	IC50	750	nM	CHEMBL3883592
6.05	IC50	900	nM	CHEMBL3883592
5.90	IC50	1259	nM	CHEMBL4065250
5.82	IC50	1527	nM	CHEMBL4099696
5.78	IC50	1650	nM	CHEMBL3885241
5.75	IC50	1800	nM	CHEMBL4078836
5.34	IC50	4600	nM	CHEMBL3907289
5.27	IC50	5400	nM	CHEMBL3957478

PubChem BioAssay actives

47 with measured affinity, of 68 total; 42 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

Compound	Assay	Type	Value	Unit
N-[(3R,6S,9S,12R)-9-[3-(diaminomethylideneamino)propyl]-6-ethyl-12-methyl-2,5,8,11-tetraoxo-3-phenyl-1,4,7,10-tetrazacyclotetradec-12-yl]-2-methylpropanamide;2,2,2-trifluoroacetic acid	1449556: Inhibition of human N-terminal GST-tagged MLL1 (3735 to 3973 residues) interaction with human full length N-terminal 6xHis-tagged ASH2L/N-terminal 6xHis-tagged human full length RbBP5/human N-terminal 6xHis-tagged WDR5/human full length N-terminal 6xHis-tagged DPY30 assessed as decrease in H3K4me1-2 methylation preincubated for 30 mins followed by SAM/nucleosome mixture addition measured after 120 mins in absence of light by AlphaLISA assay	ic50	0.0126	uM
N-[(3R,6S,9S,12R)-6-ethyl-12-methyl-9-[3-[(N’-methylcarbamimidoyl)amino]propyl]-2,5,8,11-tetraoxo-3-phenyl-1,4,7,10-tetrazacyclotetradec-12-yl]-2-methylpropanamide;2,2,2-trifluoroacetic acid	1449556: Inhibition of human N-terminal GST-tagged MLL1 (3735 to 3973 residues) interaction with human full length N-terminal 6xHis-tagged ASH2L/N-terminal 6xHis-tagged human full length RbBP5/human N-terminal 6xHis-tagged WDR5/human full length N-terminal 6xHis-tagged DPY30 assessed as decrease in H3K4me1-2 methylation preincubated for 30 mins followed by SAM/nucleosome mixture addition measured after 120 mins in absence of light by AlphaLISA assay	ic50	0.0127	uM
(2S)-2-amino-4-[[(2R,3S,4R,5R)-5-(6-aminopurin-9-yl)-3,4-dihydroxyoxolan-2-yl]methyl-[[1-(thiophen-3-ylmethyl)azetidin-3-yl]methyl]amino]butanoic acid	1658842: Inhibition of recombinant human MLL1 complex (MLL1/Ash2L/RbBP5/WDR5/DPY-30) expressed in Escherichia coli Rosetta 2 (DE3) cells using H3 (1 to 21) peptide as substrate incubated for 1 hr in presence of 3[H] SAM by AlphaLISA assay	ic50	0.0152	uM
(2S)-2-amino-4-[[(2R,3S,4R,5R)-5-(6-aminopurin-9-yl)-3,4-dihydroxyoxolan-2-yl]methyl-[[1-(furan-3-ylmethyl)azetidin-3-yl]methyl]amino]butanoic acid	1658842: Inhibition of recombinant human MLL1 complex (MLL1/Ash2L/RbBP5/WDR5/DPY-30) expressed in Escherichia coli Rosetta 2 (DE3) cells using H3 (1 to 21) peptide as substrate incubated for 1 hr in presence of 3[H] SAM by AlphaLISA assay	ic50	0.0218	uM
(2S)-2-amino-4-[[(2R,3S,4R,5R)-5-(6-aminopurin-9-yl)-3,4-dihydroxyoxolan-2-yl]methyl-[[1-(3-cyclopentylpropyl)azetidin-3-yl]methyl]amino]butanoic acid	1658842: Inhibition of recombinant human MLL1 complex (MLL1/Ash2L/RbBP5/WDR5/DPY-30) expressed in Escherichia coli Rosetta 2 (DE3) cells using H3 (1 to 21) peptide as substrate incubated for 1 hr in presence of 3[H] SAM by AlphaLISA assay	ic50	0.0255	uM
(2S)-2-amino-4-[[(2R,3S,4R,5R)-5-(6-aminopurin-9-yl)-3,4-dihydroxyoxolan-2-yl]methyl-[[1-(3-phenylpropyl)azetidin-3-yl]methyl]amino]butanoic acid	1658842: Inhibition of recombinant human MLL1 complex (MLL1/Ash2L/RbBP5/WDR5/DPY-30) expressed in Escherichia coli Rosetta 2 (DE3) cells using H3 (1 to 21) peptide as substrate incubated for 1 hr in presence of 3[H] SAM by AlphaLISA assay	ic50	0.0296	uM
(2S)-2-amino-4-[[(2R,3S,4R,5R)-5-(6-aminopurin-9-yl)-3,4-dihydroxyoxolan-2-yl]methyl-[(1-benzylazetidin-3-yl)methyl]amino]butanoic acid	1658842: Inhibition of recombinant human MLL1 complex (MLL1/Ash2L/RbBP5/WDR5/DPY-30) expressed in Escherichia coli Rosetta 2 (DE3) cells using H3 (1 to 21) peptide as substrate incubated for 1 hr in presence of 3[H] SAM by AlphaLISA assay	ic50	0.0468	uM
(2S)-2-amino-4-[[(2R,3S,4R,5R)-5-(6-aminopurin-9-yl)-3,4-dihydroxyoxolan-2-yl]methyl-[[1-[(4-chlorophenyl)methyl]azetidin-3-yl]methyl]amino]butanoic acid	1658842: Inhibition of recombinant human MLL1 complex (MLL1/Ash2L/RbBP5/WDR5/DPY-30) expressed in Escherichia coli Rosetta 2 (DE3) cells using H3 (1 to 21) peptide as substrate incubated for 1 hr in presence of 3[H] SAM by AlphaLISA assay	ic50	0.0556	uM
2-[(4S)-6-(4-chlorophenyl)-8-methoxy-1-methyl-4H-[1,2,4]triazolo[4,3-a][1,4]benzodiazepin-4-yl]-N-ethylacetamide	2179163: Binding affinity against ASH2L (unknown origin) assessed as apparent dissociation constant incubated for 1 hr by colloidal coomassie staining based LC-MS/MS analysis	kd	0.0600	uM
(2S)-2-amino-4-[[(2R,3S,4R,5R)-5-(6-aminopurin-9-yl)-3,4-dihydroxyoxolan-2-yl]methyl-[[1-(thiophen-2-ylmethyl)azetidin-3-yl]methyl]amino]butanoic acid	1658842: Inhibition of recombinant human MLL1 complex (MLL1/Ash2L/RbBP5/WDR5/DPY-30) expressed in Escherichia coli Rosetta 2 (DE3) cells using H3 (1 to 21) peptide as substrate incubated for 1 hr in presence of 3[H] SAM by AlphaLISA assay	ic50	0.0665	uM
(2S)-2-amino-4-[[(2R,3S,4R,5R)-5-(6-aminopurin-9-yl)-3,4-dihydroxyoxolan-2-yl]methyl-[(1-butylazetidin-3-yl)methyl]amino]butanoic acid	1658842: Inhibition of recombinant human MLL1 complex (MLL1/Ash2L/RbBP5/WDR5/DPY-30) expressed in Escherichia coli Rosetta 2 (DE3) cells using H3 (1 to 21) peptide as substrate incubated for 1 hr in presence of 3[H] SAM by AlphaLISA assay	ic50	0.0724	uM
N-[(3R,6S,9S,12R)-9-[3-(diaminomethylideneamino)propyl]-6-ethyl-12-methyl-2,5,8,11-tetraoxo-3-phenyl-1,4,7,10-tetrazacyclopentadec-12-yl]-2-methylpropanamide;2,2,2-trifluoroacetic acid	1449556: Inhibition of human N-terminal GST-tagged MLL1 (3735 to 3973 residues) interaction with human full length N-terminal 6xHis-tagged ASH2L/N-terminal 6xHis-tagged human full length RbBP5/human N-terminal 6xHis-tagged WDR5/human full length N-terminal 6xHis-tagged DPY30 assessed as decrease in H3K4me1-2 methylation preincubated for 30 mins followed by SAM/nucleosome mixture addition measured after 120 mins in absence of light by AlphaLISA assay	ic50	0.0848	uM
(2S)-2-amino-4-[[(2R,3S,4R,5R)-5-(6-aminopurin-9-yl)-3,4-dihydroxyoxolan-2-yl]methyl-[[1-[(3-chlorophenyl)methyl]azetidin-3-yl]methyl]amino]butanoic acid	1658842: Inhibition of recombinant human MLL1 complex (MLL1/Ash2L/RbBP5/WDR5/DPY-30) expressed in Escherichia coli Rosetta 2 (DE3) cells using H3 (1 to 21) peptide as substrate incubated for 1 hr in presence of 3[H] SAM by AlphaLISA assay	ic50	0.0995	uM
(2S)-2-amino-4-[[(2R,3S,4R,5R)-5-(6-aminopurin-9-yl)-3,4-dihydroxyoxolan-2-yl]methyl-[[1-(1-benzofuran-3-ylmethyl)azetidin-3-yl]methyl]amino]butanoic acid	1658842: Inhibition of recombinant human MLL1 complex (MLL1/Ash2L/RbBP5/WDR5/DPY-30) expressed in Escherichia coli Rosetta 2 (DE3) cells using H3 (1 to 21) peptide as substrate incubated for 1 hr in presence of 3[H] SAM by AlphaLISA assay	ic50	0.1190	uM
N-[(3R,6S,9S,12R)-3-(4-chlorophenyl)-9-[3-(diaminomethylideneamino)propyl]-6-ethyl-1,12-dimethyl-2,5,8,11-tetraoxo-1,4,7,10-tetrazacyclohexadec-12-yl]-2-methylpropanamide;2,2,2-trifluoroacetic acid	1449556: Inhibition of human N-terminal GST-tagged MLL1 (3735 to 3973 residues) interaction with human full length N-terminal 6xHis-tagged ASH2L/N-terminal 6xHis-tagged human full length RbBP5/human N-terminal 6xHis-tagged WDR5/human full length N-terminal 6xHis-tagged DPY30 assessed as decrease in H3K4me1-2 methylation preincubated for 30 mins followed by SAM/nucleosome mixture addition measured after 120 mins in absence of light by AlphaLISA assay	ic50	0.1240	uM
(2S)-2-amino-4-[[(2R,3S,4R,5R)-5-(6-aminopurin-9-yl)-3,4-dihydroxyoxolan-2-yl]methyl-[3-(3-cyclopentylpropylamino)cyclobutyl]amino]butanoic acid	1658842: Inhibition of recombinant human MLL1 complex (MLL1/Ash2L/RbBP5/WDR5/DPY-30) expressed in Escherichia coli Rosetta 2 (DE3) cells using H3 (1 to 21) peptide as substrate incubated for 1 hr in presence of 3[H] SAM by AlphaLISA assay	ic50	0.1270	uM
(2S)-2-amino-4-[[(2R,3S,4R,5R)-5-(6-aminopurin-9-yl)-3,4-dihydroxyoxolan-2-yl]methyl-[[1-(2-phenylethyl)triazol-4-yl]methyl]amino]butanoic acid	1658842: Inhibition of recombinant human MLL1 complex (MLL1/Ash2L/RbBP5/WDR5/DPY-30) expressed in Escherichia coli Rosetta 2 (DE3) cells using H3 (1 to 21) peptide as substrate incubated for 1 hr in presence of 3[H] SAM by AlphaLISA assay	ic50	0.1320	uM
N-[(3R,6S,9S,12R)-9-[3-(diaminomethylideneamino)propyl]-6-ethyl-3-(4-fluorophenyl)-1,12-dimethyl-2,5,8,11-tetraoxo-1,4,7,10-tetrazacyclohexadec-12-yl]-2-methylpropanamide;2,2,2-trifluoroacetic acid	1449556: Inhibition of human N-terminal GST-tagged MLL1 (3735 to 3973 residues) interaction with human full length N-terminal 6xHis-tagged ASH2L/N-terminal 6xHis-tagged human full length RbBP5/human N-terminal 6xHis-tagged WDR5/human full length N-terminal 6xHis-tagged DPY30 assessed as decrease in H3K4me1-2 methylation preincubated for 30 mins followed by SAM/nucleosome mixture addition measured after 120 mins in absence of light by AlphaLISA assay	ic50	0.1380	uM
(2S)-2-amino-4-[[(2R,3S,4R,5R)-5-(6-aminopurin-9-yl)-3,4-dihydroxyoxolan-2-yl]methyl-[[1-(3,3-diphenylpropyl)azetidin-3-yl]methyl]amino]butanoic acid	1658842: Inhibition of recombinant human MLL1 complex (MLL1/Ash2L/RbBP5/WDR5/DPY-30) expressed in Escherichia coli Rosetta 2 (DE3) cells using H3 (1 to 21) peptide as substrate incubated for 1 hr in presence of 3[H] SAM by AlphaLISA assay	ic50	0.1384	uM
(2S)-2-amino-4-[[(2R,3S,4R,5R)-5-(6-aminopurin-9-yl)-3,4-dihydroxyoxolan-2-yl]methyl-[[1-[(2-chlorophenyl)methyl]azetidin-3-yl]methyl]amino]butanoic acid	1658842: Inhibition of recombinant human MLL1 complex (MLL1/Ash2L/RbBP5/WDR5/DPY-30) expressed in Escherichia coli Rosetta 2 (DE3) cells using H3 (1 to 21) peptide as substrate incubated for 1 hr in presence of 3[H] SAM by AlphaLISA assay	ic50	0.1502	uM
5-amino-N-[5-[4-(4-aminobutanoylamino)phenyl]-2-(4-methylpiperazin-1-yl)phenyl]-2-chloro-4-fluoro-3-methylbenzamide	1335471: Inhibition of recombinant MLL1/ASH2L/RBBP5/WDR5 complex histone methyltransferase activity (unknown origin) by AlphaScreen assay	ic50	0.1900	uM
N-[(3R,6S,9S,12R)-9-[3-(diaminomethylideneamino)propyl]-6-ethyl-1,12-dimethyl-2,5,8,11-tetraoxo-3-phenyl-1,4,7,10-tetrazacyclohexadec-12-yl]-2-methylpropanamide;2,2,2-trifluoroacetic acid	1449556: Inhibition of human N-terminal GST-tagged MLL1 (3735 to 3973 residues) interaction with human full length N-terminal 6xHis-tagged ASH2L/N-terminal 6xHis-tagged human full length RbBP5/human N-terminal 6xHis-tagged WDR5/human full length N-terminal 6xHis-tagged DPY30 assessed as decrease in H3K4me1-2 methylation preincubated for 30 mins followed by SAM/nucleosome mixture addition measured after 120 mins in absence of light by AlphaLISA assay	ic50	0.1900	uM
(2S)-2-amino-4-[[(2R,3S,4R,5R)-5-(6-aminopurin-9-yl)-3,4-dihydroxyoxolan-2-yl]methyl-[3-(3-phenylpropylamino)propyl]amino]butanoic acid	1658842: Inhibition of recombinant human MLL1 complex (MLL1/Ash2L/RbBP5/WDR5/DPY-30) expressed in Escherichia coli Rosetta 2 (DE3) cells using H3 (1 to 21) peptide as substrate incubated for 1 hr in presence of 3[H] SAM by AlphaLISA assay	ic50	0.2010	uM
N-[(3R,6S,9S,12R)-6-ethyl-12-methyl-9-[3-[(N’-methylcarbamimidoyl)amino]propyl]-2,5,8,11-tetraoxo-3-phenyl-1,4,7,10-tetrazacyclooctadec-12-yl]-2-methylpropanamide;2,2,2-trifluoroacetic acid	1449556: Inhibition of human N-terminal GST-tagged MLL1 (3735 to 3973 residues) interaction with human full length N-terminal 6xHis-tagged ASH2L/N-terminal 6xHis-tagged human full length RbBP5/human N-terminal 6xHis-tagged WDR5/human full length N-terminal 6xHis-tagged DPY30 assessed as decrease in H3K4me1-2 methylation preincubated for 30 mins followed by SAM/nucleosome mixture addition measured after 120 mins in absence of light by AlphaLISA assay	ic50	0.2160	uM
(2S)-2-amino-4-[[(2R,3S,4R,5R)-5-(6-aminopurin-9-yl)-3,4-dihydroxyoxolan-2-yl]methyl-[1-(3-cyclopentylpropyl)azetidin-3-yl]amino]butanoic acid	1658842: Inhibition of recombinant human MLL1 complex (MLL1/Ash2L/RbBP5/WDR5/DPY-30) expressed in Escherichia coli Rosetta 2 (DE3) cells using H3 (1 to 21) peptide as substrate incubated for 1 hr in presence of 3[H] SAM by AlphaLISA assay	ic50	0.2340	uM
N-[4-[3-[(5-amino-2-chloro-4-fluoro-3-methylbenzoyl)amino]-4-(4-methylpiperazin-1-yl)phenyl]phenyl]piperidine-4-carboxamide	1335471: Inhibition of recombinant MLL1/ASH2L/RBBP5/WDR5 complex histone methyltransferase activity (unknown origin) by AlphaScreen assay	ic50	0.3000	uM
N-[(3R,6S,9S,12R)-9-[3-(diaminomethylideneamino)propyl]-6-ethyl-12-methyl-2,5,8,11-tetraoxo-3-phenyl-1,4,7,10-tetrazacyclohexadec-12-yl]-2-methylpropanamide	1320620: Inhibition of His-SUMO-fused MLL1 (3762 to 3969 residues) interaction with His-SUMO-fused ASH2L/RBBP5/WDR5 (23 to 334 residues) (unknown origin) expressed in Escherichia coli BL21 DE3 pLyss codon (+) assessed as decrease in methylation of Lys4 residue of histone H3 10-residue peptide using [3H]-S-adenosylmethionine as methyl donor after 2 hrs by scintillation counting method	ic50	0.3000	uM
N-[(3R,6S,9S,12R)-9-[3-(diaminomethylideneamino)propyl]-6-ethyl-12-methyl-2,5,8,11-tetraoxo-3-phenyl-1,4,7,10-tetrazacyclohexadec-12-yl]-2-methylpropanamide;2,2,2-trifluoroacetic acid	1449556: Inhibition of human N-terminal GST-tagged MLL1 (3735 to 3973 residues) interaction with human full length N-terminal 6xHis-tagged ASH2L/N-terminal 6xHis-tagged human full length RbBP5/human N-terminal 6xHis-tagged WDR5/human full length N-terminal 6xHis-tagged DPY30 assessed as decrease in H3K4me1-2 methylation preincubated for 30 mins followed by SAM/nucleosome mixture addition measured after 120 mins in absence of light by AlphaLISA assay	ic50	0.3730	uM
N-[bis(4-fluorophenyl)methyl]-1-[[(2S)-5-(diaminomethylideneamino)-2-[[2-ethyl-2-(2-methylpropanoylamino)butanoyl]amino]pentanoyl]amino]cyclopentane-1-carboxamide	1320618: Inhibition of His-SUMO-fused MLL1 (3762 to 3969 residues) interaction with His-SUMO-fused ASH2L/RBBP5/WDR5 (23 to 334 residues) (unknown origin) expressed in Escherichia coli BL21 DE3 pLyss codon (+) assessed as decrease in methylation of Lys4 residue of histone H3 10-residue peptide using [3H]-S-adenosylmethionine as methyl donor preincubated for 2 to 5 mins with ASH2L/RBBP5/WDR5 followed by MLL1 addition measured after 30 mins by scintillation counting method	ic50	0.4000	uM
(2S)-2-amino-4-[[(2R,3S,4R,5R)-5-(6-aminopurin-9-yl)-3,4-dihydroxyoxolan-2-yl]methyl-[3-[(3-phenylpropylamino)methyl]cyclobutyl]amino]butanoic acid	1658842: Inhibition of recombinant human MLL1 complex (MLL1/Ash2L/RbBP5/WDR5/DPY-30) expressed in Escherichia coli Rosetta 2 (DE3) cells using H3 (1 to 21) peptide as substrate incubated for 1 hr in presence of 3[H] SAM by AlphaLISA assay	ic50	0.4510	uM
N-[(3R,6S,9S,12R)-6-ethyl-12-methyl-9-[3-[(N’-methylcarbamimidoyl)amino]propyl]-2,5,8,11-tetraoxo-3-phenyl-1,4,7,10-tetrazacyclohexadec-12-yl]-2-methylpropanamide;2,2,2-trifluoroacetic acid	1449556: Inhibition of human N-terminal GST-tagged MLL1 (3735 to 3973 residues) interaction with human full length N-terminal 6xHis-tagged ASH2L/N-terminal 6xHis-tagged human full length RbBP5/human N-terminal 6xHis-tagged WDR5/human full length N-terminal 6xHis-tagged DPY30 assessed as decrease in H3K4me1-2 methylation preincubated for 30 mins followed by SAM/nucleosome mixture addition measured after 120 mins in absence of light by AlphaLISA assay	ic50	0.4520	uM
N-[(3S,6S,9S,12R)-6-ethyl-12-methyl-9-[3-[(N’-methylcarbamimidoyl)amino]propyl]-2,5,8,11-tetraoxo-3-phenyl-1,4,7,10-tetrazacyclotetradec-12-yl]-2-methylpropanamide;2,2,2-trifluoroacetic acid	1449556: Inhibition of human N-terminal GST-tagged MLL1 (3735 to 3973 residues) interaction with human full length N-terminal 6xHis-tagged ASH2L/N-terminal 6xHis-tagged human full length RbBP5/human N-terminal 6xHis-tagged WDR5/human full length N-terminal 6xHis-tagged DPY30 assessed as decrease in H3K4me1-2 methylation preincubated for 30 mins followed by SAM/nucleosome mixture addition measured after 120 mins in absence of light by AlphaLISA assay	ic50	0.4770	uM
N-benzhydryl-1-[[(2S)-5-(diaminomethylideneamino)-2-[[2-ethyl-2-(2-methylpropanoylamino)butanoyl]amino]pentanoyl]amino]cyclopentane-1-carboxamide	1449556: Inhibition of human N-terminal GST-tagged MLL1 (3735 to 3973 residues) interaction with human full length N-terminal 6xHis-tagged ASH2L/N-terminal 6xHis-tagged human full length RbBP5/human N-terminal 6xHis-tagged WDR5/human full length N-terminal 6xHis-tagged DPY30 assessed as decrease in H3K4me1-2 methylation preincubated for 30 mins followed by SAM/nucleosome mixture addition measured after 120 mins in absence of light by AlphaLISA assay	ic50	0.5780	uM
(2S)-2-amino-4-[2-aminoethyl-[[(2R,3S,4R,5R)-5-(6-aminopurin-9-yl)-3,4-dihydroxyoxolan-2-yl]methyl]amino]butanoic acid	1658842: Inhibition of recombinant human MLL1 complex (MLL1/Ash2L/RbBP5/WDR5/DPY-30) expressed in Escherichia coli Rosetta 2 (DE3) cells using H3 (1 to 21) peptide as substrate incubated for 1 hr in presence of 3[H] SAM by AlphaLISA assay	ic50	0.5920	uM
(2S)-2-amino-4-[[(2S,3S,4R,5R)-5-(6-aminopurin-9-yl)-3,4-dihydroxyoxolan-2-yl]methylsulfanyl]butanoic acid	1658842: Inhibition of recombinant human MLL1 complex (MLL1/Ash2L/RbBP5/WDR5/DPY-30) expressed in Escherichia coli Rosetta 2 (DE3) cells using H3 (1 to 21) peptide as substrate incubated for 1 hr in presence of 3[H] SAM by AlphaLISA assay	ic50	0.7240	uM
N-[(3R,6S,9S,12R)-6-ethyl-12-methyl-9-[3-[(N’-methylcarbamimidoyl)amino]propyl]-2,5,8,11-tetraoxo-3-phenyl-1,4,7,10-tetrazacycloicos-12-yl]-2-methylpropanamide;2,2,2-trifluoroacetic acid	1449556: Inhibition of human N-terminal GST-tagged MLL1 (3735 to 3973 residues) interaction with human full length N-terminal 6xHis-tagged ASH2L/N-terminal 6xHis-tagged human full length RbBP5/human N-terminal 6xHis-tagged WDR5/human full length N-terminal 6xHis-tagged DPY30 assessed as decrease in H3K4me1-2 methylation preincubated for 30 mins followed by SAM/nucleosome mixture addition measured after 120 mins in absence of light by AlphaLISA assay	ic50	0.7440	uM
N-[(3R,6S,9S,12R)-9-[3-[(N,N’-dimethylcarbamimidoyl)amino]propyl]-6-ethyl-12-methyl-2,5,8,11-tetraoxo-3-phenyl-1,4,7,10-tetrazacyclohexadec-12-yl]-2-methylpropanamide;2,2,2-trifluoroacetic acid	1449556: Inhibition of human N-terminal GST-tagged MLL1 (3735 to 3973 residues) interaction with human full length N-terminal 6xHis-tagged ASH2L/N-terminal 6xHis-tagged human full length RbBP5/human N-terminal 6xHis-tagged WDR5/human full length N-terminal 6xHis-tagged DPY30 assessed as decrease in H3K4me1-2 methylation preincubated for 30 mins followed by SAM/nucleosome mixture addition measured after 120 mins in absence of light by AlphaLISA assay	ic50	1.2590	uM
N-[(3R,6S,9S,12R)-9-[3-(diaminomethylideneamino)propyl]-6-ethyl-12-methyl-2,5,8,11-tetraoxo-3-phenyl-1,4,7,10-tetrazacycloheptadec-12-yl]-2-methylpropanamide;2,2,2-trifluoroacetic acid	1449556: Inhibition of human N-terminal GST-tagged MLL1 (3735 to 3973 residues) interaction with human full length N-terminal 6xHis-tagged ASH2L/N-terminal 6xHis-tagged human full length RbBP5/human N-terminal 6xHis-tagged WDR5/human full length N-terminal 6xHis-tagged DPY30 assessed as decrease in H3K4me1-2 methylation preincubated for 30 mins followed by SAM/nucleosome mixture addition measured after 120 mins in absence of light by AlphaLISA assay	ic50	1.5270	uM
5-amino-N-[5-(4-aminophenyl)-2-(4-methylpiperazin-1-yl)phenyl]-2-chloro-4-fluoro-3-methylbenzamide	1335471: Inhibition of recombinant MLL1/ASH2L/RBBP5/WDR5 complex histone methyltransferase activity (unknown origin) by AlphaScreen assay	ic50	1.6500	uM
N-[(3R,6S,9S,12R)-9-[3-(diaminomethylideneamino)propyl]-6-ethyl-2,5,8,11-tetraoxo-3-phenyl-1,4,7,10-tetrazacyclotetradec-12-yl]-2-methylpropanamide;2,2,2-trifluoroacetic acid	1449556: Inhibition of human N-terminal GST-tagged MLL1 (3735 to 3973 residues) interaction with human full length N-terminal 6xHis-tagged ASH2L/N-terminal 6xHis-tagged human full length RbBP5/human N-terminal 6xHis-tagged WDR5/human full length N-terminal 6xHis-tagged DPY30 assessed as decrease in H3K4me1-2 methylation preincubated for 30 mins followed by SAM/nucleosome mixture addition measured after 120 mins in absence of light by AlphaLISA assay	ic50	1.8000	uM
methyl 3-[(5-amino-2-chloro-4-fluoro-3-methylbenzoyl)amino]-4-(4-methylpiperazin-1-yl)benzoate	1320612: Inhibition of recombinant MLL1 (unknown origin) interaction with recombinant ASH2L/RBBP5/WDR5 (unknown origin) assessed as decrease in histone methylation after 60 mins by Alpha Screen assay	ic50	4.6000	uM
phenyl 3-[(5-amino-2-chloro-4-fluoro-3-methylbenzoyl)amino]-4-(4-methylpiperazin-1-yl)benzoate	1320612: Inhibition of recombinant MLL1 (unknown origin) interaction with recombinant ASH2L/RBBP5/WDR5 (unknown origin) assessed as decrease in histone methylation after 60 mins by Alpha Screen assay	ic50	5.4000	uM

CTD chemical–gene interactions

30 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	increases abundance, decreases expression	2
Ethanol	increases expression	2
FR900359	increases phosphorylation	1
2,4,6-tribromophenol	decreases expression	1
methylmercuric chloride	decreases expression	1
bisphenol A	decreases expression	1
decabromobiphenyl ether	decreases expression	1
tetrabromobisphenol A	decreases expression	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
di-n-butylphosphoric acid	affects expression	1
K 7174	decreases expression	1
2,2’,4,4’-tetrabromodiphenyl ether	decreases expression	1
pentabrominated diphenyl ether 100	decreases expression	1
hexabrominated diphenyl ether 153	decreases expression	1
Arsenic	decreases expression, increases abundance	1
Benzo(a)pyrene	affects methylation	1
Carbamazepine	affects expression	1
Cisplatin	increases expression	1
Deferoxamine	affects expression, increases expression	1
Diclofenac	affects expression	1
Doxorubicin	decreases expression	1
Enzyme Inhibitors	decreases activity, increases O-linked glycosylation	1
Folic Acid	decreases expression	1
Methyl Methanesulfonate	increases expression	1
Rotenone	decreases expression	1
Valproic Acid	affects expression	1
Cyclosporine	decreases expression	1
Copper Sulfate	decreases expression	1
Benzophenanthridines	decreases expression	1

ChEMBL screening assays

19 unique, capped per target: 19 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL5650938	Binding	Binding affinity to human ASH2L incubated for 45 mins by Kinobead based pull down assay	NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem

Cellosaurus cell lines

5 cell lines: 3 embryonic stem cell, 2 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_A0D6	SEES3-1V human ASH2L, clone1	Embryonic stem cell	Male
CVCL_A0D7	SEES3-1V human ASH2L, clone2	Embryonic stem cell	Male
CVCL_A0D8	SEES3-1V human ASH2L, clone3	Embryonic stem cell	Male
CVCL_B8BJ	Abcam HCT 116 ASH2L KO	Cancer cell line	Male
CVCL_B9DP	Abcam A-549 ASH2L KO	Cancer cell line	Male

Clinical trials (associated diseases)

197 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT05657860	PHASE4	COMPLETED	Guanfacine Extended Release for the Reduction of Aggression and Self-injurious Behavior Associated With Prader-Willi Syndrome
NCT05744479	PHASE4	RECRUITING	Metformin for Antipsychotic-induced Weight Gain in Adults With Intellectual Disability
NCT06107829	PHASE4	WITHDRAWN	Valbenazine Treatment of Tardive Dyskinesia in Adults With Intellectual/Developmental Disabilities
NCT06997198	PHASE4	NOT_YET_RECRUITING	Deutetrabenazine Treatment for Tardive Dyskinesia in Intellectual/Developmental Disabilities
NCT02270736	PHASE3	COMPLETED	Clinical Study to Investigate the Efficacy and Safety of NT 201 Compared to Placebo in the Treatment of Chronic Troublesome Drooling Associated With Neurological Disorders and/or Intellectual Disability
NCT02304302	PHASE2	COMPLETED	Down Syndrome Memantine Follow-up Study
NCT03862950	PHASE2	COMPLETED	A Trial of Metformin in Individuals With Fragile X Syndrome (Met)
NCT04529226	PHASE2	UNKNOWN	Study to Compare Clozapine vs Treatment as Usual in People With Intellectual Disability & Treatment-resistant Psychosis
NCT04821856	PHASE2	COMPLETED	Evaluation of the Effectiveness of Cannabidiol in Treating Severe Behavioural Problems in Children and Adolescents With Intellectual Disability
NCT05273320	PHASE1	COMPLETED	Clinical Trial of Nabilone for Aggression in Adults With Intellectual and Developmental Disabilities
NCT05301361	PHASE1	ENROLLING_BY_INVITATION	Sensitivity of the NIH Toolbox to Stimulant Treatment in Intellectual Disabilities
NCT06016764	PHASE1	COMPLETED	Use of MRI and cTBS for Catatonia in Autism
NCT06586827	PHASE1	COMPLETED	Impact of Competency-Based Training and Technical Assistance Employment Outcomes of Individuals With ID/DD
NCT07531940	PHASE1	NOT_YET_RECRUITING	Escalating Doses of Memantine in Down Syndrome (MEDS-123)
NCT03479476	PHASE2/PHASE3	COMPLETED	A Trial of Metformin in Individuals With Fragile X Syndrome
NCT02616796	PHASE1/PHASE2	COMPLETED	Effects of Social Gaze Training on Brain and Behavior in Fragile X Syndrome
NCT06860672	EARLY_PHASE1	RECRUITING	Clinical Trial of the Dual Vector Base Editor for the Treatment of the CHD3-R1025W Mutation
NCT00597948	Not specified	COMPLETED	Healthy Lifestyles for People With Intellectual Disabilities
NCT01087320	Not specified	RECRUITING	Genome Medical Sequencing for Gene Discovery
NCT01652963	Not specified	UNKNOWN	Picture-based Computerised Assessment and Training of Cognitive Behaviour Therapy Skills
NCT01695395	Not specified	COMPLETED	Mental Health Care Provision for Adults With Intellectual Disability and a Mental Disorder
NCT01867554	Not specified	COMPLETED	Research and Characterization of New Genes Involved in Intellectual Disability
NCT01915381	Not specified	COMPLETED	Improving Adherence Healthy Lifestyle With a Smartphone Application Based on Adults With Intellectual Disabilities
NCT01988623	Not specified	COMPLETED	Pivotal Response Treatment for Individuals With Intellectual Disabilities
NCT02099773	Not specified	COMPLETED	Support Staff-client Interactions With Augmentative and Alternative Communication
NCT02136849	Not specified	COMPLETED	Inter-regional Project of the Great Western Exploration Approach for Exome Molecular Causes Severe Intellectual Disability Isolated or Syndromic
NCT02225041	Not specified	COMPLETED	Sedation Strategy and Cognitive Outcome After Critical Illness in Early Childhood
NCT02414438	Not specified	COMPLETED	Establishing the Clinical Utility of First StepDx PLUS and NextStepDx PLUS Study
NCT02451761	Not specified	COMPLETED	Apparently Balanced Chromosomal Translocation/ Next-generation Sequencing/ Intellectual Disability
NCT02461420	Not specified	ACTIVE_NOT_RECRUITING	Mapping the Genotype, Phenotype, and Natural History of Phelan-McDermid Syndrome
NCT02461459	Not specified	ACTIVE_NOT_RECRUITING	Autism Spectrum Disorder (ASD) and Intellectual Disability (ID) Determinants in Tuberous Sclerosis Complex (TSC)
NCT02486081	Not specified	COMPLETED	Development and Application-Smart Football for Movement Evaluation and Training in the Special Education Population
NCT02504502	Not specified	COMPLETED	Enhancing Genomic Laboratory Reports to Enhance Communication and Empower Patients
NCT02513277	Not specified	COMPLETED	Diabetes Screening & Prevention for People With Learning (Intellectual) Disabilities:STOP Diabetes Study
NCT02561754	Not specified	COMPLETED	Weight Management for Adolescents With IDD
NCT02591446	Not specified	COMPLETED	Transcranial Magnetic Stimulation Studies in Autism Spectrum Disorders
NCT02714868	Not specified	COMPLETED	Evaluation of Project TEAM (Teens Making Environmental and Activity Modifications)
NCT02721394	Not specified	UNKNOWN	FCT With Young Children With ID in the UK: A Feasibility Project V.1
NCT02746614	Not specified	COMPLETED	Psychomotor Therapy Effects in Adaptive Behavior and Motor Proficiency in Intellectual Disability
NCT02836405	Not specified	COMPLETED	TMS for the Investigation of Brain Plasticity in Autism Spectrum Disorders