SRSF11

Summary

SRSF11 (serine and arginine rich splicing factor 11, HGNC:10782) is a protein-coding gene on chromosome 1p31.1, encoding Serine/arginine-rich splicing factor 11 (Q05519). May function in pre-mRNA splicing. It is a common-essential gene (DepMap: required in 96.9% of cancer cell lines).

This gene encodes 54-kD nuclear protein that contains an arginine/serine-rich region similar to segments found in pre-mRNA splicing factors. Although the function of this protein is not yet known, structure and immunolocalization data suggest that it may play a role in pre-mRNA processing. Alternative splicing results in multiple transcript variants encoding different proteins. In addition, a pseudogene of this gene has been found on chromosome 12.

Source: NCBI Gene 9295 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 62 total
• Cancer dependency (DepMap): dependent in 96.9% of screened cell lines (common-essential)
• Dosage sensitivity (ClinGen): haploinsufficiency little evidence, triplosensitivity no evidence
• MANE Select transcript: NM_001350605

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:10782
Approved symbol	SRSF11
Name	serine and arginine rich splicing factor 11
Location	1p31.1
Locus type	gene with protein product
Status	Approved
Aliases	p54, NET2
Ensembl gene	ENSG00000116754
Ensembl biotype	protein_coding
OMIM	602010
Entrez	9295

Gene structure

Transcript identifiers

Ensembl transcripts: 34 — 20 protein_coding, 8 protein_coding_CDS_not_defined, 4 nonsense_mediated_decay, 2 retained_intron

ENST00000370949, ENST00000370950, ENST00000370951, ENST00000395136, ENST00000460795, ENST00000461935, ENST00000463116, ENST00000463859, ENST00000463877, ENST00000469170, ENST00000473950, ENST00000475204, ENST00000481648, ENST00000484162, ENST00000486667, ENST00000489188, ENST00000687381, ENST00000690370, ENST00000855489, ENST00000855490, ENST00000855491, ENST00000855492, ENST00000855493, ENST00000855494, ENST00000915572, ENST00000915573, ENST00000915574, ENST00000915575, ENST00000915576, ENST00000915577, ENST00000915578, ENST00000915579, ENST00000915580, ENST00000915581

RefSeq mRNA: 21 — MANE Select: NM_001350605 NM_001190987, NM_001350605, NM_001350606, NM_001350607, NM_001350608, NM_001350609, NM_001350610, NM_001350611, NM_001350612, NM_001350613, NM_001350614, NM_001350615, NM_001350616, NM_001394402, NM_001394403, NM_001394404, NM_001394405, NM_001394406, NM_001394407, NM_001394408, NM_004768

CCDS: CCDS53332, CCDS647, CCDS90976

Canonical transcript exons

ENST00000370949 — 12 exons

Exon	Start	End
ENSE00001907631	70250608	70253052
ENSE00003519477	70232268	70232377
ENSE00003542076	70234696	70234788
ENSE00003566601	70235501	70235550
ENSE00003582281	70244684	70244815
ENSE00003588430	70228422	70228555
ENSE00003598570	70250365	70250503
ENSE00003601061	70237425	70237552
ENSE00003607741	70249952	70250047
ENSE00003654799	70239439	70239520
ENSE00003678653	70246818	70246907
ENSE00003933259	70221380	70221839

Expression profiles

Bgee: expression breadth ubiquitous, 295 present calls, max score 99.61.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 94.4915 / max 1465.4021, expressed in 1827 samples.

FANTOM5 promoters (13 alternative TSS)

Promoter ID	TPM avg	Samples expressed
3471	37.3830	1819
3477	27.3382	1805
3474	14.0094	1776
3475	5.6164	1535
3476	2.7042	1155
3485	2.1620	765
3470	1.5521	1045
3482	1.1227	602
3478	0.8647	571
3472	0.7032	400

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
visceral pleura	UBERON:0002401	99.61	gold quality
parietal pleura	UBERON:0002400	99.52	gold quality
tibia	UBERON:0000979	99.44	gold quality
mucosa of stomach	UBERON:0001199	99.44	gold quality
mucosa of paranasal sinus	UBERON:0005030	99.44	gold quality
endothelial cell	CL:0000115	99.43	gold quality
calcaneal tendon	UBERON:0003701	99.43	gold quality
skin of hip	UBERON:0001554	99.42	gold quality
sural nerve	UBERON:0015488	99.40	gold quality
germinal epithelium of ovary	UBERON:0001304	99.38	gold quality
pleura	UBERON:0000977	99.33	gold quality
right ovary	UBERON:0002118	99.29	gold quality
Brodmann (1909) area 23	UBERON:0013554	99.29	gold quality
right uterine tube	UBERON:0001302	99.26	gold quality
left ovary	UBERON:0002119	99.26	gold quality
tibial nerve	UBERON:0001323	99.25	gold quality
body of uterus	UBERON:0009853	99.24	gold quality
body of pancreas	UBERON:0001150	99.23	gold quality
pylorus	UBERON:0001166	99.20	gold quality
superficial temporal artery	UBERON:0001614	99.20	gold quality
cardia of stomach	UBERON:0001162	99.18	gold quality
right hemisphere of cerebellum	UBERON:0014890	99.18	gold quality
left lobe of thyroid gland	UBERON:0001120	99.17	gold quality
right lobe of thyroid gland	UBERON:0001119	99.11	gold quality
small intestine Peyer’s patch	UBERON:0003454	99.11	gold quality
fundus of stomach	UBERON:0001160	99.10	gold quality
thyroid gland	UBERON:0002046	99.10	gold quality
endocervix	UBERON:0000458	99.08	gold quality
upper leg skin	UBERON:0004262	99.08	gold quality
right lung	UBERON:0002167	99.05	gold quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-CURD-135	no	1790.34
E-HCAD-4	no	19.04
E-CURD-122	no	18.84
E-ANND-3	no	0.00

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

1 targets.

Target	Regulation
FOXP3

miRNA regulators (miRDB)

81 targeting SRSF11, 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-3064-3P	100.00	70.09	1254
HSA-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-MIR-98-3P	100.00	74.08	3907
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-1185-1-3P	99.98	71.04	2593
HSA-MIR-1185-2-3P	99.98	71.04	2593
HSA-LET-7F-2-3P	99.98	70.98	2588
HSA-MIR-3065-5P	99.97	71.56	3281
HSA-MIR-3658	99.96	73.87	4379
HSA-MIR-205-3P	99.92	69.92	3165
HSA-MIR-3686	99.90	70.53	2432
HSA-MIR-3671	99.90	73.04	3897
HSA-MIR-153-5P	99.89	73.86	6317
HSA-MIR-4671-3P	99.88	72.46	1045
HSA-MIR-548AR-3P	99.85	71.26	3889
HSA-MIR-548BC	99.82	70.61	3524
HSA-MIR-548F-3P	99.82	70.59	3540
HSA-MIR-548AZ-3P	99.82	70.56	3549
HSA-MIR-548E-3P	99.82	70.59	3514
HSA-MIR-3180-5P	99.82	69.12	2422
HSA-MIR-4420	99.82	70.08	1624
HSA-MIR-181B-2-3P	99.81	70.06	1646
HSA-MIR-181B-3P	99.81	70.06	1646
HSA-MIR-448	99.79	72.37	2103
HSA-MIR-323A-3P	99.79	70.30	1739
HSA-MIR-548A-3P	99.76	70.58	3524
HSA-MIR-3680-3P	99.75	72.51	3095
HSA-MIR-148A-3P	99.74	73.77	1700
HSA-MIR-148B-3P	99.74	73.75	1700

Functional genomics

ClinGen dosage: haploinsufficiency 1 (little evidence), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map DepMap (CRISPR cell-line fitness): dependent in 96.9% of screened cell lines, common-essential.

Literature-anchored findings (GeneRIF, showing 5)

• SRp54 interacts with a purine-rich element tau in exon 10 and antagonizes Tra2beta, an SR-domain-containing protein that enhances exon 10 inclusion. (PMID:16943417)
• The G2/M arrest induced by MIAs is required for p54(nrb) phosphorylation. CDK activity is required for MIA-induced phosphorylation of p54(nrb). (PMID:18832053)
• Regulation of gene expression programmes by serine-arginine rich splicing factors. (PMID:24657192)
• Alternative splicing of HSPA12A pre-RNA by SRSF11 contributes to metastasis potential of colorectal cancer. (PMID:36394206)
• METTL3-mediated downregulation of splicing factor SRSF11 is associated with carcinogenesis and poor survival of cancer patients. (PMID:37013774)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	srsf11	ENSDARG00000098574
mus_musculus	Srsf11	ENSMUSG00000055436
rattus_norvegicus	Srsf11	ENSRNOG00000029592
drosophila_melanogaster	Srp54	FBGN0024285

Paralogs (1): SREK1 (ENSG00000153914)

Protein

Protein identifiers

Serine/arginine-rich splicing factor 11 — Q05519 (reviewed: Q05519)

Alternative names: Arginine-rich 54 kDa nuclear protein, Splicing factor, arginine/serine-rich 11

All UniProt accessions (7): Q05519, A0A8I5KQP9, B4DTC1, B4DWT1, Q5T757, Q5T760, S4R3C4

UniProt curated annotations — full annotation on UniProt →

Function. May function in pre-mRNA splicing.

Subunit / interactions. Interacts with PUF60.

Subcellular location. Nucleus.

Similarity. Belongs to the splicing factor SR family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q05519-1	1	yes
Q05519-2	2

RefSeq proteins (21): NP_001177916, NP_001337534, NP_001337535, NP_001337536, NP_001337537, NP_001337538, NP_001337539, NP_001337540, NP_001337541, NP_001337542, NP_001337543, NP_001337544, NP_001337545, NP_001381331, NP_001381332, NP_001381333, NP_001381334, NP_001381335, NP_001381336, NP_001381337, NP_004759 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000504	RRM_dom	Domain
IPR012677	Nucleotide-bd_a/b_plait_sf	Homologous_superfamily
IPR034447	RRM_SRSF11	Domain
IPR035979	RBD_domain_sf	Homologous_superfamily

Pfam: PF00076

UniProt features (38 total): modified residue 12, repeat 10, compositionally biased region 7, region of interest 3, cross-link 2, initiator methionine 1, chain 1, domain 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q05519-F1	55.48	0.13

Functional residue map

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

Post-translational modifications (14): 2, 207, 212, 323, 325, 414, 434, 447, 449, 456, 464, 483, 197, 211

Function

Pathways and Gene Ontology

Reactome pathways

12 pathways

ID	Pathway
R-HSA-159236	Transport of Mature mRNA derived from an Intron-Containing Transcript
R-HSA-72163	mRNA Splicing - Major Pathway
R-HSA-72187	mRNA 3’-end processing
R-HSA-72203	Processing of Capped Intron-Containing Pre-mRNA
R-HSA-9770562	mRNA Polyadenylation
R-HSA-9918481	Dengue Virus-Host Interactions
R-HSA-73856	RNA Polymerase II Transcription Termination
R-HSA-72172	mRNA Splicing
R-HSA-72202	Transport of Mature Transcript to Cytoplasm
R-HSA-73857	RNA Polymerase II Transcription
R-HSA-74160	Gene expression (Transcription)
R-HSA-8953854	Metabolism of RNA

MSigDB gene sets: 227 (showing top): GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_UP, DORSAM_HOXA9_TARGETS_UP, TGCTGCT_MIR15A_MIR16_MIR15B_MIR195_MIR424_MIR497, GAUSSMANN_MLL_AF4_FUSION_TARGETS_C_UP, HEIDENBLAD_AMPLICON_8Q24_DN, PUJANA_CHEK2_PCC_NETWORK, CAGCAGG_MIR370, ONKEN_UVEAL_MELANOMA_UP, MILI_PSEUDOPODIA_HAPTOTAXIS_UP, REACTOME_MRNA_3_END_PROCESSING, REACTOME_PROCESSING_OF_CAPPED_INTRON_CONTAINING_PRE_MRNA, GOBP_RNA_SPLICING, GARY_CD5_TARGETS_DN, GOZGIT_ESR1_TARGETS_UP, REACTOME_MRNA_SPLICING

GO Biological Process (2): mRNA processing (GO:0006397), RNA splicing (GO:0008380)

GO Molecular Function (4): RNA binding (GO:0003723), identical protein binding (GO:0042802), nucleic acid binding (GO:0003676), protein binding (GO:0005515)

GO Cellular Component (3): nucleus (GO:0005634), nucleoplasm (GO:0005654), nuclear speck (GO:0016607)

Reactome top-level categories

Rollup of top-8 pathways:

Category	Pathways
Processing of Capped Intron-Containing Pre-mRNA	3
Transport of Mature Transcript to Cytoplasm	1
mRNA Splicing	1
Metabolism of RNA	1
mRNA 3’-end processing	1
Dengue Virus Infection	1
RNA Polymerase II Transcription	1
Gene expression (Transcription)	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
RNA processing	2
binding	2
mRNA metabolic process	1
nucleic acid binding	1
protein binding	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
cellular anatomical structure	1
nuclear ribonucleoprotein granule	1

Protein interactions and networks

STRING

1940 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SRSF11	RNPS1	Q15287	935
SRSF11	PNN	Q9H307	813
SRSF11	UPF3B	Q9BZI7	810
SRSF11	SRRM1	Q8IYB3	799
SRSF11	SRRM4	A7MD48	786
SRSF11	SRSF5	Q13243	770
SRSF11	TRA2B	P62995	743
SRSF11	SRSF7	Q16629	730
SRSF11	SRSF9	Q13242	728
SRSF11	ALYREF	Q86V81	692
SRSF11	SRSF10	O75494	690
SRSF11	UPF3A	Q9H1J1	690
SRSF11	SRSF4	Q08170	683
SRSF11	SRSF6	Q13247	672
SRSF11	DEK	P35659	650

IntAct

117 interactions, top by confidence:

A	B	Type	Score
SRSF11	PUF60	psi-mi:“MI:0915”(physical association)	0.770
PUF60	SRSF11	psi-mi:“MI:0915”(physical association)	0.770
ZRANB2	PIP4K2A	psi-mi:“MI:0914”(association)	0.610
SRSF11	ETS1	psi-mi:“MI:0915”(physical association)	0.570
SRSF11		psi-mi:“MI:0915”(physical association)	0.560
SRSF11	SDCBP	psi-mi:“MI:0915”(physical association)	0.560
SRSF11	GATC	psi-mi:“MI:0915”(physical association)	0.560
RBM39	SRSF11	psi-mi:“MI:0915”(physical association)	0.560
SRSF11	HYI	psi-mi:“MI:0915”(physical association)	0.560
ARL6IP4	SRSF11	psi-mi:“MI:0915”(physical association)	0.560
SRSF11	ARL6IP4	psi-mi:“MI:0915”(physical association)	0.560
SRSF11	SREK1	psi-mi:“MI:0915”(physical association)	0.560
SRSF11	TANK	psi-mi:“MI:0915”(physical association)	0.560
	SRSF11	psi-mi:“MI:0915”(physical association)	0.560
SDCBP	SRSF11	psi-mi:“MI:0915”(physical association)	0.560
SRSF11	RBM39	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (265): SRSF11 (Two-hybrid), RBM39 (Two-hybrid), TANK (Two-hybrid), PUF60 (Two-hybrid), ARL6IP4 (Two-hybrid), HYI (Two-hybrid), SREK1 (Two-hybrid), GATC (Two-hybrid), SRSF11 (Affinity Capture-MS), SRSF11 (Affinity Capture-MS), SRSF11 (Affinity Capture-MS), ARGLU1 (Co-fractionation), DDX46 (Co-fractionation), EEF1A1 (Co-fractionation), HEXIM1 (Co-fractionation)

ESM2 similar proteins: A0JNI5, A2AJT4, A2AQ19, A4IFB1, B1H1X4, D3ZTQ1, O43290, P35269, Q05519, Q12872, Q13435, Q3THK3, Q3UJB0, Q3UQU0, Q3USH5, Q4V7C9, Q53F19, Q568R1, Q5EA53, Q5HZB6, Q5PQQ2, Q5R539, Q5RAD5, Q5XIW8, Q5ZM19, Q66I22, Q6AY96, Q6DDA4, Q6GLZ8, Q6INH5, Q6ZPZ3, Q8BZR9, Q8CFC7, Q8K194, Q8N2M8, Q8N5F7, Q8TF01, Q8VHI6, Q8WVK2, Q923D5

Diamond homologs: A6NDY0, O01159, Q05519, Q8BZX4, Q8WXA9, Q9JKL7, O14327, P31483, P52912, Q28165, Q3MHY8, Q6NVP7, Q6P0F4, Q6TY21, Q6Z1C0, Q7ZXB8, Q86U42, Q8CCS6, Q9C8M0, Q9FGE6, Q9LPI5, Q9LRR6, Q9SG10, Q9Y580

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
SRSF11	“up-regulates quantity by stabilization”	LRP8	“post transcriptional regulation”
SRSF11	“up-regulates quantity by stabilization”	APOE	“post transcriptional regulation”

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 94 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
mRNA 3’-end processing	6	19.4×	8e-05
Transport of Mature mRNA derived from an Intron-Containing Transcript	6	15.0×	2e-04
mRNA Splicing	8	14.4×	2e-05
Processing of Capped Intron-Containing Pre-mRNA	8	10.8×	8e-05
mRNA Splicing - Major Pathway	11	9.8×	5e-06
mRNA Polyadenylation	6	8.6×	3e-03
Metabolism of RNA	10	6.8×	1e-04
Infectious disease	10	4.1×	6e-03

GO biological processes:

GO term	Partners	Fold	FDR
regulation of alternative mRNA splicing, via spliceosome	6	17.4×	3e-04
negative regulation of translation	6	14.0×	5e-04
RNA splicing	11	11.6×	2e-06
mRNA processing	9	8.4×	3e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	33
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

2445 predictions. Top by Δscore:

Variant	Effect	Δscore
1:70205776:ATCAA:A	donor_gain	1.0000
1:70205780:AG:A	donor_loss	1.0000
1:70205781:G:GG	donor_gain	1.0000
1:70205781:GT:G	donor_loss	1.0000
1:70228420:A:AG	acceptor_gain	1.0000
1:70228421:G:GG	acceptor_gain	1.0000
1:70231184:T:G	donor_gain	1.0000
1:70231184:T:TG	donor_gain	1.0000
1:70232266:A:AG	acceptor_gain	1.0000
1:70232267:G:GG	acceptor_gain	1.0000
1:70232267:GGA:G	acceptor_gain	1.0000
1:70232373:CCCAG:C	donor_loss	1.0000
1:70232374:CCAG:C	donor_loss	1.0000
1:70232375:CAGGT:C	donor_loss	1.0000
1:70232376:AG:A	donor_loss	1.0000
1:70232377:GGT:G	donor_loss	1.0000
1:70232378:GTACT:G	donor_loss	1.0000
1:70232379:T:A	donor_loss	1.0000
1:70235499:A:AG	acceptor_gain	1.0000
1:70235500:G:GA	acceptor_gain	1.0000
1:70235500:GT:G	acceptor_gain	1.0000
1:70235500:GTC:G	acceptor_gain	1.0000
1:70235500:GTCT:G	acceptor_gain	1.0000
1:70235500:GTCTC:G	acceptor_gain	1.0000
1:70235547:CCAAG:C	donor_loss	1.0000
1:70235550:AGTAA:A	donor_loss	1.0000
1:70235551:G:A	donor_loss	1.0000
1:70235551:G:GG	donor_gain	1.0000
1:70235552:T:G	donor_loss	1.0000
1:70237417:T:TA	acceptor_gain	1.0000

AlphaMissense

2753 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:70232277:C:A	P116H	1.000
1:70237498:G:C	A222P	1.000
1:70237519:G:C	A229P	1.000
1:70237529:T:C	L232P	1.000
1:70237532:T:A	I233N	1.000
1:70237532:T:C	I233T	1.000
1:70237532:T:G	I233S	1.000
1:70237540:G:C	A236P	1.000
1:70232274:T:A	I115N	0.999
1:70232276:C:A	P116T	0.999
1:70232276:C:T	P116S	0.999
1:70232277:C:G	P116R	0.999
1:70232292:C:A	A121D	0.999
1:70232301:T:C	L124P	0.999
1:70237490:T:A	I219K	0.999
1:70237499:C:A	A222D	0.999
1:70237502:T:A	M223K	0.999
1:70237502:T:C	M223T	0.999
1:70237503:G:A	M223I	0.999
1:70237503:G:C	M223I	0.999
1:70237503:G:T	M223I	0.999
1:70237511:T:A	V226E	0.999
1:70237511:T:C	V226A	0.999
1:70237514:G:C	R227P	0.999
1:70237520:C:A	A229E	0.999
1:70237523:A:C	Q230P	0.999
1:70237525:T:C	S231P	0.999
1:70237534:T:C	S234P	0.999
1:70237537:G:C	A235P	0.999
1:70237541:C:A	A236D	0.999

dbSNP variants (sampled 300 via entrez): RS1000042106 (1:70227155 G>A,C), RS1000043531 (1:70234891 A>G,T), RS1000108843 (1:70211743 T>C), RS1000219287 (1:70209888 G>A), RS1000249063 (1:70229021 T>A), RS1000281629 (1:70217679 T>C), RS1000285296 (1:70246806 T>G), RS1000298905 (1:70216890 T>C), RS1000338624 (1:70246413 A>G), RS1000464387 (1:70222361 T>A), RS1000472314 (1:70223303 A>G), RS1000615545 (1:70216305 G>A,C), RS1000649795 (1:70228672 T>C), RS1000725369 (1:70222790 A>C), RS1001021919 (1:70228834 C>T)

Disease associations

OMIM: gene MIM:602010 | disease phenotypes:

GenCC curated gene-disease

Mondo (1): autism spectrum disorder (MONDO:0005258)

Orphanet (1): NON RARE IN EUROPE: Autism (Orphanet:106)

HPO phenotypes

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

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
bisphenol A	decreases expression, increases methylation, affects cotreatment	5
Valproic Acid	affects cotreatment, decreases expression	3
Formaldehyde	decreases expression, increases expression	2
Silicon Dioxide	increases expression, increases methylation	2
Particulate Matter	increases abundance, increases expression	2
aristolochic acid I	decreases expression	1
FR900359	increases phosphorylation	1
bisphenol F	affects cotreatment, decreases expression	1
TAK-243	decreases sumoylation	1
graphene oxide	decreases expression	1
urushiol	increases expression	1
2,4,6-tribromophenol	decreases expression	1
triphenyl phosphate	affects expression	1
deoxynivalenol	increases expression	1
decabromobiphenyl ether	decreases expression	1
cinnamaldehyde	increases expression	1
beta-lapachone	decreases expression	1
methylparaben	decreases expression	1
sodium arsenite	decreases expression	1
tetrabromobisphenol A	decreases expression	1
zinc chromate	increases abundance, increases expression	1
coumarin	decreases phosphorylation	1
pinosylvin	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
chromium hexavalent ion	increases abundance, increases expression	1
perfluorooctane sulfonic acid	decreases expression	1
mono(2-ethyl-5-oxohexyl)phthalate	affects expression	1
K 7174	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
dimethylarsinous acid	decreases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00391261	PHASE4	COMPLETED	An Open-label Trial of Metformin for Weight Control of Pediatric Patients on Antipsychotic Medications.
NCT01028820	PHASE4	COMPLETED	FMRI Brain Activation of Aripiprazole Treatment in Autism Spectrum Disorders
NCT01333865	PHASE4	COMPLETED	A Study of Memantine Hydrochloride (Namenda®) for Cognitive and Behavioral Impairment in Adults With Autism Spectrum Disorders
NCT01337700	PHASE4	COMPLETED	Milnacipran in Autism and the Functional Locus Coeruleus and Noradrenergic Model of Autism
NCT01695200	PHASE4	COMPLETED	Omega-3 Fatty Acids in Autism Spectrum Disorders
NCT02096952	PHASE4	COMPLETED	Methylphenidate ER Liquid Formulation in Adults With ASD and ADHD
NCT02235467	PHASE4	COMPLETED	Multisite Study: Parental Training Using Video Modelling to Develop Social Skills in Children With Autism
NCT02940574	PHASE4	COMPLETED	Neural and Behavioral Effects of Oxytocin in Autism Spectrum Disorders
NCT03333629	PHASE4	COMPLETED	Promoting Positive Outcomes for Individuals With ASD: Linking Early Detection, Treatment, and Long-term Outcomes
NCT03337646	PHASE4	COMPLETED	Evaluation of the Effect and Safety of Lisdexamfetamine in Children Aged 6-12 With ADHD and Autism
NCT03538431	PHASE4	COMPLETED	Improving Driving in Young People With Autism Spectrum Disorders
NCT03757585	PHASE4	COMPLETED	Natural Treatments for the Management of Emotional Dysregulation in Youth With Non-verbal Learning Disability (NVLD) and/or Autism Spectrum Disorders (ASD)
NCT04903353	PHASE4	COMPLETED	Pragmatic Trial Comparing Weight Gain in Children With Autism Taking Risperidone Versus Aripiprazole
NCT05063656	PHASE4	COMPLETED	Biomarker-Driven Pharmacological Treatment of Adolescents With Autism Spectrum Disorder With Gabapentin
NCT05146245	PHASE4	UNKNOWN	Safety and Pharmacokinetics of Antipsychotics in Children 2: Studying TDM in an RCT
NCT05916339	PHASE4	RECRUITING	AWARE: Management of ADHD in Autism Spectrum Disorder
NCT05954052	PHASE4	TERMINATED	A Study of Glutathione in Children With Autism Spectrum Disorder
NCT06853665	PHASE4	RECRUITING	The TEAM Study - Treatment Efficacy for Autism/Attention Using Mixed Amphetamine
NCT07054697	PHASE4	COMPLETED	Pilot-RCT With Individualized Homeopathic Treatment in the Children With Autism Spectrum Disorder
NCT07161804	PHASE4	COMPLETED	Pilot RCT Using Homeopathic Medicines in ASD
NCT07439042	PHASE4	NOT_YET_RECRUITING	Buspirone for Anxiety in Autistic Youth
NCT01302964	PHASE3	COMPLETED	Mirtazapine Treatment of Anxiety in Children and Adolescents With Pervasive Developmental Disorders
NCT01706523	PHASE3	TERMINATED	Open Label Extension Study of STX209 (Arbaclofen) in Autism Spectrum Disorders
NCT01825798	PHASE3	COMPLETED	Treatment of Overweight Induced by Antipsychotic Medication in Young People With Autism Spectrum Disorders (ASD)
NCT01972074	PHASE3	COMPLETED	Behavioral and Neural Response to Memantine in Adolescents With Autism Spectrum Disorder
NCT02985749	PHASE3	COMPLETED	A Study of Oxytocin for the Treatment of Social Impairment in Individuals With High Functioning Autism Spectrum Disorder
NCT03197922	PHASE3	COMPLETED	Treatment of Encopresis in Children With Autism Spectrum Disorders
NCT03504917	PHASE3	TERMINATED	A Study of Balovaptan in Adults With Autism Spectrum Disorder With a 2-Year Open-Label Extension
NCT03553875	PHASE3	TERMINATED	Memantine for the Treatment of Social Deficits in Youth With Disorders of Impaired Social Interactions
NCT03640156	PHASE3	COMPLETED	Modulating Socially Adaptive Mirror System Functioning in Autism by Oxytocin
NCT03715153	PHASE3	TERMINATED	Efficacy and Safety of Bumetanide Oral Liquid Formulation in Children Aged From 2 to Less Than 7 Years Old With Autism Spectrum Disorder.
NCT03715166	PHASE3	TERMINATED	Efficacy and Safety of Bumetanide Oral Liquid Formulation in Children and Adolescents Aged From 7 to Less Than 18 Years Old With Autism Spectrum Disorder
NCT04233502	PHASE3	WITHDRAWN	Efficacy and Safety of Slenyto for Insomnia in Children With ASD
NCT04578756	PHASE3	COMPLETED	Open-Label, Flexible-dose Study to Evaluate the Long-Term Safety and Tolerability of Cariprazine in the Treatment of Pediatric Participants With Schizophrenia, Bipolar I Disorder, or Autism Spectrum Disorder
NCT04623398	PHASE3	COMPLETED	Effect of Lithium in Patients With Autism Spectrum Disorder and Phelan-McDermid Syndrome (SHANK3 Haploinsufficiency)
NCT04725383	PHASE3	TERMINATED	Amitriptyline for Repetitive Behaviors in Autism Spectrum Disorders
NCT05212493	PHASE3	COMPLETED	The Effects of Medical Cannabis in Children With Autistic Spectrum Disorder
NCT05361707	PHASE3	UNKNOWN	Evaluating the Effects of Tasimelteon in Individuals With Autism Spectrum Disorder (ASD) and Sleep Disturbances
NCT05439616	PHASE3	COMPLETED	Study of Cariprazine Oral Capsules or Solution to Assess Adverse Events and Change in Irritability Due to Autism Spectrum Disorder (ASD) in Participants Aged 5-17 Years With ASD
NCT06229210	PHASE3	RECRUITING	Safety and Tolerability Trial of Lumateperone in Pediatric Patients With Schizophrenia, Bipolar Disorder or Autism Spectrum Disorder