ST7

Summary

ST7 (suppression of tumorigenicity 7, HGNC:11351) is a protein-coding gene on chromosome 7q31.2, encoding Suppressor of tumorigenicity 7 protein (Q9NRC1). May act as a tumor suppressor.

The gene for this product maps to a region on chromosome 7 identified as an autism-susceptibility locus. Mutation screening of the entire coding region in autistic individuals failed to identify phenotype-specific variants, suggesting that coding mutations for this gene are unlikely to be involved in the etiology of autism. The function of this gene product has not been determined. Transcript variants encoding different isoforms of this protein have been described.

Source: NCBI Gene 7982 — RefSeq curated summary.

At a glance

• Gene–disease (curated): genetic developmental and epileptic encephalopathy (Limited, GenCC)
• GWAS associations: 8
• Clinical variants (ClinVar): 63 total — 1 likely-pathogenic
• MANE Select transcript: NM_001369598

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:11351
Approved symbol	ST7
Name	suppression of tumorigenicity 7
Location	7q31.2
Locus type	gene with protein product
Status	Approved
Aliases	TSG7, SEN4, ETS7q, HELG, RAY1, FAM4A
Ensembl gene	ENSG00000004866
Ensembl biotype	protein_coding
OMIM	600833
Entrez	7982

Gene structure

Transcript identifiers

Ensembl transcripts: 36 — 26 protein_coding, 7 protein_coding_CDS_not_defined, 2 nonsense_mediated_decay, 1 retained_intron

ENST00000265437, ENST00000323984, ENST00000393443, ENST00000393444, ENST00000393446, ENST00000393447, ENST00000393449, ENST00000393451, ENST00000417919, ENST00000420755, ENST00000422922, ENST00000432298, ENST00000434836, ENST00000438863, ENST00000443979, ENST00000446490, ENST00000449366, ENST00000462544, ENST00000464020, ENST00000465133, ENST00000465641, ENST00000467538, ENST00000477742, ENST00000485394, ENST00000487459, ENST00000489293, ENST00000490039, ENST00000543837, ENST00000903532, ENST00000903533, ENST00000903534, ENST00000923796, ENST00000923797, ENST00000923798, ENST00000946966, ENST00000946967

RefSeq mRNA: 11 — MANE Select: NM_001369598 NM_001369598, NM_001369599, NM_001369600, NM_001369601, NM_001369602, NM_001369603, NM_001369604, NM_001369606, NM_001369607, NM_018412, NM_021908

CCDS: CCDS5769, CCDS5770, CCDS94181, CCDS94182, CCDS94183, CCDS94184, CCDS94185, CCDS94186

Canonical transcript exons

ENST00000323984 — 16 exons

Exon	Start	End
ENSE00003475093	117190834	117190936
ENSE00003496919	117219084	117219176
ENSE00003536623	117221923	117222062
ENSE00003539042	117138435	117138532
ENSE00003577586	117134124	117134192
ENSE00003586100	117130491	117130606
ENSE00003619513	117136081	117136235
ENSE00003621647	117189321	117189393
ENSE00003633228	117099762	117099844
ENSE00003641370	117170862	117170976
ENSE00003678758	117209787	117209937
ENSE00003683670	117131885	117131960
ENSE00003684887	117119561	117119720
ENSE00003787786	117129793	117129847
ENSE00003907709	116953501	116953691
ENSE00003909160	117229762	117230176

Expression profiles

Bgee: expression breadth ubiquitous, 281 present calls, max score 95.25.

FANTOM5 (CAGE): breadth broad, TPM avg 5.6107 / max 272.2260, expressed in 735 samples.

FANTOM5 promoters (14 alternative TSS)

Promoter ID	TPM avg	Samples expressed
80693	11.1244	1773
80691	6.0297	1686
80703	5.6107	735
80700	2.8840	365
80694	0.9908	663
80704	0.5586	259
80692	0.4734	261
80699	0.2838	138
204665	0.2338	84
80709	0.2148	39

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
cortical plate	UBERON:0005343	95.25	gold quality
ventricular zone	UBERON:0003053	92.74	gold quality
ganglionic eminence	UBERON:0004023	92.44	gold quality
cerebellar hemisphere	UBERON:0002245	91.87	gold quality
cerebellar cortex	UBERON:0002129	91.73	gold quality
body of pancreas	UBERON:0001150	91.69	gold quality
popliteal artery	UBERON:0002250	91.66	gold quality
tibial artery	UBERON:0007610	91.63	gold quality
right hemisphere of cerebellum	UBERON:0014890	91.54	gold quality
right coronary artery	UBERON:0001625	90.94	gold quality
aorta	UBERON:0000947	90.89	gold quality
right lung	UBERON:0002167	90.84	gold quality
cerebellum	UBERON:0002037	90.66	gold quality
islet of Langerhans	UBERON:0000006	90.63	gold quality
pancreas	UBERON:0001264	90.33	gold quality
ascending aorta	UBERON:0001496	90.25	gold quality
thoracic aorta	UBERON:0001515	90.17	gold quality
right atrium auricular region	UBERON:0006631	90.09	gold quality
right lobe of liver	UBERON:0001114	90.08	gold quality
left lobe of thyroid gland	UBERON:0001120	89.94	gold quality
left coronary artery	UBERON:0001626	89.74	gold quality
upper lobe of left lung	UBERON:0008952	89.61	gold quality
right adrenal gland	UBERON:0001233	89.58	gold quality
right adrenal gland cortex	UBERON:0035827	89.51	gold quality
right lobe of thyroid gland	UBERON:0001119	89.50	gold quality
left adrenal gland	UBERON:0001234	89.45	gold quality
middle temporal gyrus	UBERON:0002771	89.44	gold quality
thyroid gland	UBERON:0002046	89.39	gold quality
left adrenal gland cortex	UBERON:0035825	89.30	gold quality
pituitary gland	UBERON:0000007	89.29	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-GEOD-93593	yes	10.88
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): SMARCA1

miRNA regulators (miRDB)

68 targeting ST7, 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-450A-1-3P	100.00	69.33	1837
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-499A-5P	99.98	70.79	1323
HSA-MIR-19A-3P	99.98	75.33	2762
HSA-MIR-19B-3P	99.98	75.44	2754
HSA-MIR-101-3P	99.94	75.03	2230
HSA-MIR-144-3P	99.94	73.98	2698
HSA-MIR-1305	99.91	71.43	3443
HSA-MIR-4493	99.90	66.48	977
HSA-MIR-95-5P	99.89	72.17	3973
HSA-MIR-605-3P	99.88	69.22	1833
HSA-MIR-6857-5P	99.87	65.32	985
HSA-MIR-4779	99.86	66.50	1583
HSA-MIR-4447	99.85	67.81	2900
HSA-MIR-369-3P	99.85	70.52	2264
HSA-MIR-765	99.84	68.24	2442
HSA-MIR-6739-5P	99.80	67.87	2806
HSA-MIR-92A-2-5P	99.75	67.01	2164
HSA-MIR-11181-3P	99.75	66.38	2205
HSA-MIR-6733-5P	99.74	67.94	2759
HSA-MIR-1255A	99.74	68.09	744
HSA-MIR-1255B-5P	99.74	68.16	741
HSA-MIR-518A-5P	99.70	69.01	2209
HSA-MIR-527	99.70	69.01	2209
HSA-MIR-4729	99.69	72.18	4233
HSA-MIR-3660	99.68	67.33	1149
HSA-MIR-4526	99.68	67.07	1136
HSA-MIR-580-3P	99.67	69.23	1841
HSA-MIR-4756-3P	99.62	66.30	1319
HSA-MIR-6126	99.62	68.09	996

Literature-anchored findings (GeneRIF, showing 9)

• Mutational analysis of ST7 in a wide range of cell lines and primary epithelial cancer failed to detect mutations at this locus, with the exception of 1 missense change in a breast cancer cell line. (PMID:12107844)
• The RAY1/ST7 tumor-suppressor locus on chromosome 7q31 represents a complex multi-transcript system (PMID:12213198)
• The ST7 gene is not a primary target of inactivation in most human cancers with loss of heterozygosity at 7q31.1-q31.2. (PMID:12231539)
• These data suggest that LOH at 7q31-q35 is involved in the origin or progression of at least a subset of esophageal carcinomas, but that ST7 is not the target gene of this somatic event. (PMID:12545169)
• somatic mutations of ST7 do not commonly contribute to the molecular pathogenesis of human malignant myeloid tumors (PMID:14534688)
• ST7 gene may not be the target gene of inactivation at 7q31 site in gastric carcinoma. (PMID:14669308)
• ST7 mediates tumor suppression through the regulation of the genes involved in maintaining the cellular structure of the cell and involved in oncogenic pathways (PMID:20238225)
• The tumor suppressor ST7 is a key gene silenced by PRMT5. (PMID:24453002)
• Inflammation-dependent overexpression of c-Myc enhances CRL4(DCAF4) E3 ligase activity and promotes ubiquitination of ST7 in colitis-associated cancer. (PMID:30945288)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	st7	ENSDARG00000039960
danio_rerio	st7	ENSDARG00000112691
mus_musculus	St7	ENSMUSG00000029534
rattus_norvegicus	ST7	ENSRNOG00000056243
drosophila_melanogaster	CG3634	FBGN0037026
caenorhabditis_elegans		WBGENE00008686

Paralogs (1): ST7L (ENSG00000007341)

Protein

Protein identifiers

Suppressor of tumorigenicity 7 protein — Q9NRC1 (reviewed: Q9NRC1)

Alternative names: Protein FAM4A1, Protein HELG

All UniProt accessions (19): Q9NRC1, B7Z4L1, B7Z4U3, C9J2Z1, C9JRQ0, C9JRW1, C9JU30, C9JWK8, C9JX79, C9JZV9, E7EMS3, E7ENZ9, E7EPD9, E7EPW5, E9PCV1, E9PF01, G3XAH9, H7BXS2, X5DRA0

UniProt curated annotations — full annotation on UniProt →

Function. May act as a tumor suppressor.

Subcellular location. Membrane.

Tissue specificity. Ubiquitously expressed, with highest levels in heart, liver and pancreas.

Similarity. Belongs to the ST7 family.

Isoforms (7)

UniProt ID	Names	Canonical?
Q9NRC1-1	1	yes
Q9NRC1-2	2
Q9NRC1-3	3
Q9NRC1-4	4
Q9NRC1-5	5
Q9NRC1-6	6
Q9NRC1-7	7

RefSeq proteins (11): NP_001356527, NP_001356528, NP_001356529, NP_001356530, NP_001356531, NP_001356532, NP_001356533, NP_001356535, NP_001356536, NP_060882, NP_068708 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR007311	ST7	Family

Pfam: PF04184

UniProt features (18 total): splice variant 10, transmembrane region 3, sequence variant 2, chain 1, modified residue 1, glycosylation site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9NRC1-F1	80.60	0.47

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 (1): 386

Glycosylation sites (1): 47

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 186 (showing top): FXR_IR1_Q6, MIDORIKAWA_AMPLIFIED_IN_LIVER_CANCER, PAL_PRMT5_TARGETS_UP, ENK_UV_RESPONSE_KERATINOCYTE_UP, BROWNE_HCMV_INFECTION_16HR_UP, BROWNE_HCMV_INFECTION_24HR_UP, AAAGGGA_MIR204_MIR211, BROWN_MYELOID_CELL_DEVELOPMENT_DN, CDPCR3HD_01, AP2_Q6_01, NELSON_RESPONSE_TO_ANDROGEN_DN, RIZKI_TUMOR_INVASIVENESS_3D_UP, LIU_SOX4_TARGETS_DN, ASGHARZADEH_NEUROBLASTOMA_POOR_SURVIVAL_DN, chr7q31

GO Biological Process (2): extracellular matrix organization (GO:0030198), regulation of cell differentiation (GO:0045595)

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (1): membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
extracellular structure organization	1
external encapsulating structure organization	1
cell differentiation	1
regulation of developmental process	1
regulation of cellular process	1
binding	1
cellular anatomical structure	1

Protein interactions and networks

STRING

766 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ST7	FOXP2	O15409	629
ST7	TSEN2	Q8NCE0	580
ST7	WNT2	P09544	564
ST7	DCAF4	Q8WV16	527
ST7	IMMP2L	Q96T52	476
ST7	TSEN34	Q9BSV6	445
ST7	MET	P08581	436
ST7	DVL1	O14640	434
ST7	PDCD7	Q8N8D1	381
ST7	SETX	Q7Z333	370
ST7	TPRG1L	Q5T0D9	359
ST7	TUSC1	Q2TAM9	351
ST7	DENND2B	P78523	343
ST7	RELN	P78509	305
ST7	FXYD2	P54710	278

IntAct

79 interactions, top by confidence:

A	B	Type	Score
CUL4B	RBX1	psi-mi:“MI:0914”(association)	0.820
CUL4A	RBX1	psi-mi:“MI:0914”(association)	0.640
NIPAL1	ESYT2	psi-mi:“MI:0914”(association)	0.640
PCDHAC2	TMEM223	psi-mi:“MI:0914”(association)	0.530
GPR21	TMEM120B	psi-mi:“MI:0914”(association)	0.530
C3AR1	TMEM120B	psi-mi:“MI:0914”(association)	0.530
PCDHB16	UPK3BL1	psi-mi:“MI:0914”(association)	0.530
RNF19B	PIK3R2	psi-mi:“MI:0914”(association)	0.530
CHRNA9	CHEK1	psi-mi:“MI:0914”(association)	0.530
B4GAT1	ADCY6	psi-mi:“MI:0914”(association)	0.530
CHRND	TPST2	psi-mi:“MI:0914”(association)	0.530
ST7L	MACO1	psi-mi:“MI:0914”(association)	0.530
CDR2	IGSF3	psi-mi:“MI:0914”(association)	0.530
UNC93B1	GPR89A	psi-mi:“MI:0914”(association)	0.530
DCAF4	ST7	psi-mi:“MI:0915”(physical association)	0.500
ST7	NFKBIA	psi-mi:“MI:0915”(physical association)	0.370
	TMEM223	psi-mi:“MI:0914”(association)	0.350
RYBP	FAM186A	psi-mi:“MI:0914”(association)	0.350
CUL4A	DDX39A	psi-mi:“MI:0914”(association)	0.350
CUL4B	GGTLC3	psi-mi:“MI:0914”(association)	0.350
DCAF4	IGLL5	psi-mi:“MI:0914”(association)	0.350
HCN1	USP27X	psi-mi:“MI:0914”(association)	0.350
HCN1	POTEF	psi-mi:“MI:0914”(association)	0.350
CERS6	CANX	psi-mi:“MI:0914”(association)	0.350
FAM241A	PGRMC1	psi-mi:“MI:0914”(association)	0.350
TTYH1	TMEM223	psi-mi:“MI:0914”(association)	0.350
BSCL2	TMEM223	psi-mi:“MI:0914”(association)	0.350

BioGRID (430): ST7 (Affinity Capture-MS), ST7 (Affinity Capture-MS), ST7 (Affinity Capture-MS), ST7 (Affinity Capture-MS), ST7 (Affinity Capture-MS), ST7 (Affinity Capture-MS), ST7 (Affinity Capture-MS), ST7 (Affinity Capture-MS), ST7 (Affinity Capture-MS), ST7 (Proximity Label-MS), ST7 (Proximity Label-MS), ST7 (Affinity Capture-MS), ST7 (Affinity Capture-MS), ST7 (Affinity Capture-MS), ST7 (Affinity Capture-MS)

ESM2 similar proteins: A0A1B0GVV1, A0M8S0, A0M8T1, A0M8U1, A3KN28, A4D7R9, A9JRA0, B1AZA5, E9Q2Z6, P01134, P48030, Q00PJ0, Q07DV5, Q07DW9, Q07DX8, Q07DY8, Q07E08, Q07E45, Q09YH4, Q09YI5, Q09YJ7, Q09YK8, Q09YN2, Q108U3, Q1RLU8, Q2IBA8, Q2IBD0, Q2IBE0, Q2IBE8, Q2PG42, Q2QL86, Q2QLA6, Q2QLB7, Q2QLD7, Q2QLE8, Q2QLG2, Q3KRC4, Q3SXP7, Q5T292, Q68FW3

Diamond homologs: A0M8S0, A0M8T1, A0M8U1, A3KN28, A4D7R9, A7S641, A8X0L4, A9JRA0, Q00PJ0, Q07DV5, Q07DW9, Q07DX8, Q07DY8, Q07E08, Q07E45, Q09YH4, Q09YI5, Q09YJ7, Q09YK8, Q09YN2, Q108U3, Q19337, Q1RLU8, Q2IBA8, Q2IBD0, Q2IBE0, Q2IBE8, Q2M146, Q2PG42, Q2QL86, Q2QLA6, Q2QLB7, Q2QLD7, Q2QLE8, Q2QLG2, Q68FW3, Q8K4P7, Q8TDW4, Q90YH8, Q99M96

SIGNOR signaling

3 interactions.

A	Effect	B	Mechanism
DCAF4	“down-regulates quantity by destabilization”	ST7	binding
Cullin4-RBX1-DDB1	“down-regulates quantity by destabilization”	ST7	polyubiquitination
SMARCA1	“down-regulates quantity by repression”	ST7	“transcriptional regulation”

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	1
Uncertain significance	39
Likely benign	7
Benign	3

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
183291	NM_001369598.1(ST7):c.489T>G (p.Tyr163Ter)	Likely pathogenic

SpliceAI

4504 predictions. Top by Δscore:

Variant	Effect	Δscore
7:116953691:GGTAA:G	donor_loss	1.0000
7:116953692:GT:G	donor_loss	1.0000
7:116955154:G:GG	donor_gain	1.0000
7:116955178:TCTCA:T	donor_gain	1.0000
7:117099760:A:AG	acceptor_gain	1.0000
7:117099761:G:GA	acceptor_gain	1.0000
7:117099761:GT:G	acceptor_gain	1.0000
7:117099761:GTGA:G	acceptor_gain	1.0000
7:117099842:TTGGT:T	donor_loss	1.0000
7:117099844:GGTAA:G	donor_loss	1.0000
7:117099845:G:GC	donor_loss	1.0000
7:117099846:T:TG	donor_loss	1.0000
7:117099847:A:AG	donor_loss	1.0000
7:117119555:TTCTA:T	acceptor_loss	1.0000
7:117119556:TCTA:T	acceptor_loss	1.0000
7:117119557:CTAG:C	acceptor_loss	1.0000
7:117119558:TA:T	acceptor_loss	1.0000
7:117119559:A:AG	acceptor_gain	1.0000
7:117119559:AGAT:A	acceptor_loss	1.0000
7:117119560:G:A	acceptor_loss	1.0000
7:117119560:G:GT	acceptor_gain	1.0000
7:117119560:GA:G	acceptor_gain	1.0000
7:117119560:GAT:G	acceptor_gain	1.0000
7:117119560:GATA:G	acceptor_gain	1.0000
7:117119560:GATAT:G	acceptor_gain	1.0000
7:117119716:CTCAG:C	donor_loss	1.0000
7:117119717:TCAG:T	donor_loss	1.0000
7:117119718:CAGG:C	donor_loss	1.0000
7:117119719:AGG:A	donor_loss	1.0000
7:117119720:GG:G	donor_loss	1.0000

AlphaMissense

3770 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
7:117099783:T:C	L58S	1.000
7:117099794:T:C	F62L	1.000
7:117099795:T:C	F62S	1.000
7:117099795:T:G	F62C	1.000
7:117099796:C:A	F62L	1.000
7:117099796:C:G	F62L	1.000
7:117099804:C:A	A65D	1.000
7:117099807:T:A	L66Q	1.000
7:117099807:T:C	L66P	1.000
7:117099807:T:G	L66R	1.000
7:117099812:G:C	G68R	1.000
7:117099813:G:A	G68D	1.000
7:117099819:C:A	S70Y	1.000
7:117099825:T:C	L72P	1.000
7:117099828:T:A	I73K	1.000
7:117099833:G:A	G75R	1.000
7:117099833:G:C	G75R	1.000
7:117099833:G:T	G75W	1.000
7:117099834:G:A	G75E	1.000
7:117099837:T:C	L76P	1.000
7:117099840:T:A	I77N	1.000
7:117099840:T:C	I77T	1.000
7:117099840:T:G	I77S	1.000
7:117099843:T:C	L78S	1.000
7:117119567:G:A	E81K	1.000
7:117119568:A:T	E81V	1.000
7:117119570:T:A	W82R	1.000
7:117119570:T:C	W82R	1.000
7:117119579:T:C	F85L	1.000
7:117119581:T:A	F85L	1.000

dbSNP variants (sampled 300 via entrez): RS1000000059 (7:117106550 G>A), RS1000002830 (7:117033923 G>A), RS1000006057 (7:117201759 AGT>A), RS1000009442 (7:117224959 T>C), RS1000025046 (7:117058952 A>T), RS1000038439 (7:116955388 T>C), RS1000044638 (7:117108579 T>C), RS1000063649 (7:117099678 A>G), RS1000072169 (7:117101262 A>T), RS1000077063 (7:117156338 G>A,C), RS1000091115 (7:117162922 T>C), RS1000091308 (7:117090086 T>A), RS1000103435 (7:117201544 GT>G,GTT), RS1000115176 (7:117008694 G>C), RS1000115994 (7:117185374 G>A)

Disease associations

OMIM: gene MIM:600833 | disease phenotypes:

GenCC curated gene-disease

Disease	Classification	Inheritance
genetic developmental and epileptic encephalopathy	Limited	Autosomal recessive

Mondo (1): genetic developmental and epileptic encephalopathy (MONDO:0100062)

Orphanet (1): Hereditary papillary renal cell carcinoma (Orphanet:47044)

HPO phenotypes

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

GWAS associations

8 associations (top):

Study	Trait	p-value
GCST001629_2	Response to platinum-based chemotherapy in non-small-cell lung cancer	4.000000e-07
GCST005439_5	Response to alcohol consumption (flushing response)	3.000000e-06
GCST005956_17	Waist-to-hip ratio adjusted for BMI	5.000000e-09
GCST005962_49	Waist-to-hip ratio adjusted for BMI x sex x age interaction (4df test)	3.000000e-07
GCST007998_2	Intraocular pressure	1.000000e-07
GCST010796_5106	Electrocardiogram morphology (amplitude at temporal datapoints)	8.000000e-10
GCST010796_5107	Electrocardiogram morphology (amplitude at temporal datapoints)	2.000000e-08
GCST010796_5108	Electrocardiogram morphology (amplitude at temporal datapoints)	6.000000e-10

EFO canonical traits (5, from GWAS)

EFO ID	Trait name
EFO:0007788	BMI-adjusted waist-hip ratio
EFO:0008007	age at assessment
EFO:0008343	sex interaction measurement
EFO:0004695	intraocular pressure measurement
EFO:0004327	electrocardiography

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	decreases expression	3
Valproic Acid	affects expression, decreases expression, increases expression	3
methylselenic acid	decreases expression, affects expression	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
Testosterone	affects cotreatment, decreases expression	2
Aflatoxin B1	decreases methylation, decreases expression	2
aristolochic acid I	decreases expression	1
testosterone enanthate	affects expression	1
triphenyl phosphate	affects expression	1
alpha-pinene	affects cotreatment, increases expression, increases abundance	1
bisphenol A	decreases methylation	1
trichostatin A	affects expression	1
tris(2-butoxyethyl) phosphate	affects expression	1
beta-lapachone	decreases expression, increases expression	1
methacrylaldehyde	increases expression, increases abundance, affects cotreatment	1
lei gong teng	increases expression	1
beta-methylcholine	affects expression	1
epigallocatechin gallate	increases expression	1
glycidamide	decreases expression	1
CGP 52608	affects binding, increases reaction	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
dorsomorphin	affects cotreatment, increases expression	1
picoxystrobin	decreases expression	1
Acetaminophen	decreases expression	1
Acrolein	affects cotreatment, increases expression, increases abundance	1
Air Pollutants	affects cotreatment, increases abundance, increases expression	1
Calcitriol	decreases expression, affects cotreatment	1
Cisplatin	decreases expression	1
Doxorubicin	decreases expression	1
Estradiol	affects cotreatment, decreases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT06719141	PHASE3	RECRUITING	A Study to Investigate LP352 in Children and Adults With Developmental and Epileptic Encephalopathies (DEE)
NCT06908226	PHASE3	ENROLLING_BY_INVITATION	A Study to Investigate LP352 in Children and Adults With Developmental and Epileptic Encephalopathy (DEE)
NCT05626634	PHASE2	COMPLETED	Open-label, Long-term Safety Study of LP352 in Subjects With Developmental and Epileptic Encephalopathy
NCT06700811	PHASE1	RECRUITING	Ketogenic Diet for Prevention of Epileptic Spasms in Infantile Onset Genetic Epilepsies
NCT05364021	PHASE1/PHASE2	COMPLETED	Study to Investigate LP352 in Subjects With Developmental and Epileptic Encephalopathies
NCT06983158	PHASE1/PHASE2	SUSPENDED	A Clinical Trial of CAP-002 Gene Therapy in Pediatric Patients With Syntaxin-Binding Protein 1 (STXBP1) Encephalopathy
NCT04937062	EARLY_PHASE1	ACTIVE_NOT_RECRUITING	Phenylbutyrate for Monogenetic Developmental and Epileptic Encephalopathy
NCT06149663	Not specified	AVAILABLE	Intermediate-Size Expanded Access Protocol (EAP) for LP352
NCT06380192	Not specified	RECRUITING	Developmental and Epileptic Encephalopathy of Genetic Etiology: Natural History Through Reuse of Clinical Data
NCT07396883	Not specified	NOT_YET_RECRUITING	Developmental and Epileptic Encephalopathies Diagnosed Via Long-read Genome Sequencing
NCT07531511	Not specified	NOT_YET_RECRUITING	SLC6A1-NDD Prospective Longitudinal Natural History Study
NCT07585643	Not specified	NOT_YET_RECRUITING	IBIS - Investigating Reliability of BIS and SEDLINE Monitoring in Children With Developmental and Epileptic Encephalopathies (DEE).