DNASE1L1

Summary

DNASE1L1 (deoxyribonuclease 1 like 1, HGNC:2957) is a protein-coding gene on chromosome Xq28, encoding Deoxyribonuclease-1-like 1 (P49184).

This gene encodes a deoxyribonuclease protein that shows high sequence similarity to DNase I. The encoded protein is localized to the endoplasmic reticulum and modified by N-linked glycosylation. Alternate transcriptional splice variants encoding the same protein have been observed.

Source: NCBI Gene 1774 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 151 total — 5 pathogenic, 4 likely-pathogenic
• Phenotypes (HPO): 1
• MANE Select transcript: NM_001303620

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:2957
Approved symbol	DNASE1L1
Name	deoxyribonuclease 1 like 1
Location	Xq28
Locus type	gene with protein product
Status	Approved
Aliases	DNAS1L1, XIB, DNASEX
Ensembl gene	ENSG00000013563
Ensembl biotype	protein_coding
OMIM	300081
Entrez	1774

Gene structure

Transcript identifiers

Ensembl transcripts: 38 — 37 protein_coding, 1 retained_intron

ENST00000014935, ENST00000309585, ENST00000369807, ENST00000369808, ENST00000369809, ENST00000393638, ENST00000412184, ENST00000424626, ENST00000432135, ENST00000447892, ENST00000451865, ENST00000497242, ENST00000862481, ENST00000862482, ENST00000862483, ENST00000862484, ENST00000862485, ENST00000862486, ENST00000862487, ENST00000862488, ENST00000862489, ENST00000862490, ENST00000862491, ENST00000862492, ENST00000862493, ENST00000862494, ENST00000862495, ENST00000931108, ENST00000965224, ENST00000965225, ENST00000965226, ENST00000965227, ENST00000965228, ENST00000965229, ENST00000965230, ENST00000965231, ENST00000965232, ENST00000965233

RefSeq mRNA: 5 — MANE Select: NM_001303620 NM_001009932, NM_001009933, NM_001009934, NM_001303620, NM_006730

CCDS: CCDS14747

Canonical transcript exons

ENST00000369807 — 8 exons

Exon	Start	End
ENSE00000678409	154402942	154403190
ENSE00000678413	154403522	154403622
ENSE00000678418	154404995	154405083
ENSE00001450964	154409112	154409254
ENSE00001450968	154405434	154405655
ENSE00003549633	154403269	154403381
ENSE00003790806	154404828	154404914
ENSE00003850463	154401236	154402841

Expression profiles

Bgee: expression breadth ubiquitous, 283 present calls, max score 96.91.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 20.8145 / max 149.9216, expressed in 1806 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
201012	9.5503	1578
201016	4.8815	1681
201013	4.6807	1416
201011	1.0519	598
201015	0.3469	153
201014	0.3032	143

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
hindlimb stylopod muscle	UBERON:0004252	96.91	gold quality
gastrocnemius	UBERON:0001388	96.59	gold quality
gluteal muscle	UBERON:0002000	96.44	gold quality
muscle of leg	UBERON:0001383	96.05	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	95.98	gold quality
biceps brachii	UBERON:0001507	95.95	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	95.94	gold quality
vastus lateralis	UBERON:0001379	95.87	gold quality
muscle organ	UBERON:0001630	95.87	gold quality
skeletal muscle organ	UBERON:0014892	95.87	gold quality
quadriceps femoris	UBERON:0001377	95.60	gold quality
apex of heart	UBERON:0002098	95.20	gold quality
skeletal muscle tissue	UBERON:0001134	94.95	gold quality
stromal cell of endometrium	CL:0002255	94.92	gold quality
triceps brachii	UBERON:0001509	94.44	gold quality
tendon of biceps brachii	UBERON:0008188	93.15	gold quality
deltoid	UBERON:0001476	92.88	gold quality
monocyte	CL:0000576	92.87	gold quality
mononuclear cell	CL:0000842	92.56	gold quality
leukocyte	CL:0000738	92.40	gold quality
muscle tissue	UBERON:0002385	92.14	gold quality
heart left ventricle	UBERON:0002084	91.60	gold quality
body of tongue	UBERON:0011876	91.52	gold quality
right atrium auricular region	UBERON:0006631	91.51	gold quality
cardiac ventricle	UBERON:0002082	91.49	gold quality
cardiac atrium	UBERON:0002081	90.51	gold quality
parotid gland	UBERON:0001831	90.45	gold quality
right coronary artery	UBERON:0001625	90.40	gold quality
heart	UBERON:0000948	90.30	gold quality
granulocyte	CL:0000094	90.22	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	3.62

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

53 targeting DNASE1L1, 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-4747-5P	100.00	67.90	2681
HSA-MIR-5196-5P	100.00	67.98	2761
HSA-MIR-6870-5P	99.99	68.55	2115
HSA-MIR-545-3P	99.95	70.74	2783
HSA-MIR-4731-5P	99.89	67.23	2537
HSA-MIR-4492	99.87	68.25	3611
HSA-MIR-2681-5P	99.75	67.64	1655
HSA-MIR-3202	99.66	67.70	2737
HSA-MIR-7156-5P	99.64	68.81	1369
HSA-MIR-762	99.58	66.61	1994
HSA-MIR-12131	99.48	68.72	1673
HSA-MIR-1275	99.47	67.90	2749
HSA-MIR-4498	99.47	67.42	2360
HSA-MIR-4273	99.45	67.93	1206
HSA-MIR-3911	99.38	66.95	1087
HSA-MIR-6808-5P	99.31	66.23	2150
HSA-MIR-6893-5P	99.31	66.25	2119
HSA-MIR-329-5P	99.27	68.11	1597
HSA-MIR-133A-3P	99.27	71.53	1270
HSA-MIR-133B	99.27	71.53	1270
HSA-MIR-6852-5P	99.17	66.69	2073
HSA-MIR-1911-3P	99.15	66.17	528
HSA-MIR-8070	99.07	69.30	1303
HSA-MIR-4651	99.06	67.57	2002
HSA-MIR-5001-5P	99.05	66.76	1972
HSA-MIR-608	98.93	67.83	2013
HSA-MIR-29B-1-5P	98.86	68.35	1364
HSA-MIR-7851-3P	98.72	64.88	980
HSA-MIR-7155-5P	98.65	66.14	1290
HSA-MIR-7977	98.65	66.18	2590

Literature-anchored findings (GeneRIF, showing 6)

• Genotyping of all the non-synonymous SNPs of was performed in three ethnic groups including six different populations using the PCR-RFLP method newly developed. (PMID:20503202)
• Several SNPs in the deoxyribonuclease I-like 1 (DNase 1L1) and DNase 1L2 were investigated. (PMID:20967767)
• Yeast two-hybrid screening revealed that DNase X, a glycosylphosphatidyl inositol-anchored mammalian cell-surface protein binds EtpE-C. (PMID:24098122)
• DNASEX and TKTL1 detection in patient blood is associated with poor disease-free survival rate in oral squamous cell carcinoma. (PMID:24304513)
• genotyping of all 21 nonsynonymous DNase 1L1 SNPs was performed in 16 populations representing 3 ethnic groups; 2 activity-abolishing and 4 activity-reducing SNPs were confirmed to be functional; may be plausible that a minor allele of 6 SNPs producing a loss-of-function or low-activity variant could serve as a risk factor for disease (PMID:24329527)
• Analysis of tafazzin and deoxyribonuclease 1 like 1 transcripts and X chromosome sequencing in the evaluation of the effect of mosaicism in the TAZ gene on phenotypes in a family affected by Barth syndrome. (PMID:36628843)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	dnase1l1	ENSDARG00000005464
mus_musculus	Dnase1l1	ENSMUSG00000019088
rattus_norvegicus	Dnase1l1	ENSRNOG00000055641

Paralogs (3): DNASE1L3 (ENSG00000163687), DNASE1L2 (ENSG00000167968), DNASE1 (ENSG00000213918)

Protein

Protein identifiers

Deoxyribonuclease-1-like 1 — P49184 (reviewed: P49184)

Alternative names: DNase X, Deoxyribonuclease I-like 1, Muscle-specific DNase I-like, XIB

All UniProt accessions (6): P49184, A3KQT1, A6QRJ0, E7ESG1, E7EUJ0, Q5HY40

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Endoplasmic reticulum.

Tissue specificity. Highest levels in skeletal and cardiac muscles. Detectable in all other tissues tested except brain.

Similarity. Belongs to the DNase I family.

RefSeq proteins (5): NP_001009932, NP_001009933, NP_001009934, NP_001290549, NP_006721 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR005135	Endo/exonuclease/phosphatase	Domain
IPR016202	DNase_I	Family
IPR018057	Deoxyribonuclease-1_AS	Active_site
IPR033125	DNASE_I_2	Conserved_site
IPR036691	Endo/exonu/phosph_ase_sf	Homologous_superfamily

Pfam: PF03372

UniProt features (11 total): sequence conflict 4, active site 2, signal peptide 1, chain 1, glycosylation site 1, disulfide bond 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P49184-F1	90.83	0.84

Functional residue map

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

Catalytic / active sites (2): 97; 148

Disulfide bonds (1): 187–224

Glycosylation sites (1): 261

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-6798695	Neutrophil degranulation

MSigDB gene sets: 137 (showing top): GOMF_ENDONUCLEASE_ACTIVITY, REACTOME_INNATE_IMMUNE_SYSTEM, GOCC_SECRETORY_GRANULE, GOMF_NUCLEASE_ACTIVITY, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GOBP_DNA_CATABOLIC_PROCESS, MODULE_360, RICKMAN_TUMOR_DIFFERENTIATED_MODERATELY_VS_POORLY_UP, CONCANNON_APOPTOSIS_BY_EPOXOMICIN_DN, GOMF_DNA_ENDONUCLEASE_ACTIVITY, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_DN, GOCC_SECRETORY_VESICLE, GOCC_VESICLE_LUMEN, GOCC_SPECIFIC_GRANULE, MARSON_BOUND_BY_FOXP3_UNSTIMULATED

GO Biological Process (2): DNA metabolic process (GO:0006259), DNA catabolic process (GO:0006308)

GO Molecular Function (8): DNA binding (GO:0003677), deoxyribonuclease I activity (GO:0004530), DNA nuclease activity (GO:0004536), catalytic activity (GO:0003824), nuclease activity (GO:0004518), endonuclease activity (GO:0004519), protein binding (GO:0005515), hydrolase activity (GO:0016787)

GO Cellular Component (4): extracellular region (GO:0005576), nucleus (GO:0005634), endoplasmic reticulum (GO:0005783), specific granule lumen (GO:0035580)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Innate Immune System	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
nuclease activity	2
intracellular membrane-bounded organelle	2
nucleic acid metabolic process	1
DNA nuclease activity	1
DNA metabolic process	1
nucleic acid catabolic process	1
nucleic acid binding	1
DNA endonuclease activity, producing 5’-phosphomonoesters	1
catalytic activity, acting on DNA	1
molecular_function	1
catalytic activity, acting on a nucleic acid	1
binding	1
catalytic activity	1
cellular anatomical structure	1
cytoplasm	1
endomembrane system	1
secretory granule lumen	1
specific granule	1

Protein interactions and networks

STRING

838 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
DNASE1L1	BSG	P35613	593
DNASE1L1	DNASE2B	Q8WZ79	556
DNASE1L1	DNASE2	O00115	554
DNASE1L1	ERVFRD-1	P60508	539
DNASE1L1	ERV3-1	Q14264	539
DNASE1L1	ERVW-1	Q9UQF0	524
DNASE1L1	DFFB	O76075	476
DNASE1L1	PRRC1	Q96M27	392
DNASE1L1	TSPYL4	Q9UJ04	361
DNASE1L1	SHISAL1	Q3SXP7	352
DNASE1L1	NFASC	O94856	350
DNASE1L1	WASL	O00401	348
DNASE1L1	FAM222B	Q8WU58	348
DNASE1L1	HNRNPK	P61978	344
DNASE1L1	WAS	P42768	329

IntAct

44 interactions, top by confidence:

A	B	Type	Score
DNASE1L1	HSPA5	psi-mi:“MI:0915”(physical association)	0.560
DNASE1L1	BDNF	psi-mi:“MI:0915”(physical association)	0.560
CALR	DNASE1L1	psi-mi:“MI:0915”(physical association)	0.560
DNASE1L1	SERPINH1	psi-mi:“MI:0915”(physical association)	0.560
DNASE1L1	CDH1	psi-mi:“MI:0915”(physical association)	0.560
DNASE1L1	DLST	psi-mi:“MI:0915”(physical association)	0.560
DNASE1L1	GRN	psi-mi:“MI:0915”(physical association)	0.560
DNASE1L1	PECAM1	psi-mi:“MI:0915”(physical association)	0.560
DNASE1L1	TGFBR2	psi-mi:“MI:0915”(physical association)	0.560
DNASE1L1	WFS1	psi-mi:“MI:0915”(physical association)	0.560
CDK5R1	DNASE1L1	psi-mi:“MI:0915”(physical association)	0.560
DNASE1L1	NEK7	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (130): GFAP (Affinity Capture-MS), SPCS2 (Affinity Capture-MS), SPCS1 (Affinity Capture-MS), LRRC15 (Affinity Capture-MS), DNASE1L1 (Affinity Capture-MS), GFAP (Affinity Capture-MS), SPCS1 (Affinity Capture-MS), SPCS2 (Affinity Capture-MS), DNASE1L1 (Affinity Capture-MS), DNASE1L1 (Proximity Label-MS), DNASE1L1 (Affinity Capture-MS), DNASE1L1 (Affinity Capture-MS), DNASE1L1 (Two-hybrid), DNASE1L1 (Affinity Capture-RNA), HSPA5 (Affinity Capture-MS)

ESM2 similar proteins: O18835, O18998, O42446, O55070, O77588, O77695, O89107, O97524, O97860, P00639, P04066, P08236, P11936, P11937, P12265, P13686, P21704, P22412, P24855, P49183, P49184, P70158, Q01459, Q01460, Q02809, Q13609, Q2QDE6, Q2QDE7, Q2QDE9, Q2QDF0, Q2QDF1, Q4AEE3, Q4FAT7, Q4FZV0, Q5R5N6, Q5R9N3, Q5RFI5, Q63321, Q641Z7, Q6AYS4

Diamond homologs: O18998, O42446, O55070, O89107, P00639, P11936, P11937, P21704, P24855, P49183, P49184, Q13609, Q2QDE6, Q2QDE7, Q2QDE9, Q2QDF0, Q2QDF1, Q4AEE3, Q767J3, Q92874, Q9D1G0, Q9D7J6, Q9YGI5, D3SGB1

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	5
Likely pathogenic	4
Uncertain significance	51
Likely benign	25
Benign	3

Top pathogenic / likely-pathogenic (9)

Variant ID	HGVS	Classification
1319559	NM_000116.5(TAFAZZIN):c.18_22dup (p.Pro8fs)	Pathogenic
146128	GRCh38/hg38 Xq28(chrX:153296806-154604471)x2	Pathogenic
1808722	GRCh37/hg19 Xq25-28(chrX:124749464-155233731)x1	Pathogenic
4527096	NM_000116.5(TAFAZZIN):c.109+1G>A	Pathogenic
686720	GRCh37/hg19 Xq28(chrX:153255132-153636707)x3	Pathogenic
11106	NM_000116.5(TAFAZZIN):c.109+5G>C	Likely pathogenic
2506893	NM_000116.5(TAFAZZIN):c.54_55del (p.Leu19fs)	Likely pathogenic
2506901	NM_000116.5(TAFAZZIN):c.51G>A (p.Trp17Ter)	Likely pathogenic
2506902	NM_000116.5(TAFAZZIN):c.124del (p.His41_Leu42insTer)	Likely pathogenic

SpliceAI

1628 predictions. Top by Δscore:

Variant	Effect	Δscore
X:154402943:T:TA	donor_gain	1.0000
X:154402944:C:A	donor_gain	1.0000
X:154402946:T:TA	donor_gain	1.0000
X:154403186:ACGTC:A	acceptor_gain	1.0000
X:154403187:CGTC:C	acceptor_gain	1.0000
X:154403187:CGTCC:C	acceptor_gain	1.0000
X:154403188:GTC:G	acceptor_gain	1.0000
X:154403188:GTCC:G	acceptor_loss	1.0000
X:154403189:TC:T	acceptor_gain	1.0000
X:154403189:TCCTA:T	acceptor_loss	1.0000
X:154403190:CC:C	acceptor_gain	1.0000
X:154403191:C:CC	acceptor_gain	1.0000
X:154403191:CTAGA:C	acceptor_loss	1.0000
X:154404845:CGT:C	donor_gain	1.0000
X:154404910:CAAAT:C	acceptor_gain	1.0000
X:154404915:C:CC	acceptor_gain	1.0000
X:154404988:T:TA	donor_gain	1.0000
X:154404989:CCTCA:C	donor_loss	1.0000
X:154404990:CTCA:C	donor_loss	1.0000
X:154404991:TCA:T	donor_loss	1.0000
X:154404992:CACCG:C	donor_loss	1.0000
X:154404993:A:AC	donor_gain	1.0000
X:154404994:C:CC	donor_gain	1.0000
X:154404994:CCG:C	donor_gain	1.0000
X:154404994:CCGA:C	donor_gain	1.0000
X:154405083:TC:T	acceptor_loss	1.0000
X:154405084:C:CA	acceptor_loss	1.0000
X:154405427:AACTT:A	donor_loss	1.0000
X:154405428:ACTTA:A	donor_loss	1.0000
X:154405429:CTTAC:C	donor_loss	1.0000

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000334088 (X:154410379 C>A,T), RS1000448721 (X:154410845 C>T), RS1000824671 (X:154401348 A>G,T), RS1002008336 (X:154408701 A>G), RS1002044696 (X:154408986 A>C,G), RS1002704203 (X:154404358 T>G), RS1003686519 (X:154405929 G>T), RS1004122644 (X:154406293 G>A), RS1004664672 (X:154406331 C>G,T), RS1004764976 (X:154406937 C>A,G), RS1005227439 (X:154402336 C>A,G), RS1005488594 (X:154411574 G>C), RS1006232127 (X:154404415 C>A), RS1006697974 (X:154401272 C>T), RS1006862123 (X:154409911 G>A,C)

Disease associations

OMIM: gene MIM:300081 | disease phenotypes: MIM:300049, MIM:304120, MIM:309350, MIM:305620, MIM:302060, MIM:226000

GenCC curated gene-disease

Mondo (10): heterotopia, periventricular, X-linked dominant (MONDO:0010233), otopalatodigital syndrome type 2 (MONDO:0010571), Melnick-Needles syndrome (MONDO:0010650), frontometaphyseal dysplasia (MONDO:0015942), frontometaphyseal dysplasia 1 (MONDO:0024550), Barth syndrome (MONDO:0010543), X-linked Emery-Dreifuss muscular dystrophy (MONDO:0010680), dilated cardiomyopathy (MONDO:0005021), endocardial fibroelastosis (MONDO:0009169), cardiomyopathy (MONDO:0004994)

Orphanet (12): Frontometaphyseal dysplasia (Orphanet:1826), Nodular neuronal heterotopia (Orphanet:2149), Melnick-Needles syndrome (Orphanet:2484), OBSOLETE: Otopalatodigital syndrome (Orphanet:669), Ehlers-Danlos syndrome with periventricular heterotopia (Orphanet:82004), Otopalatodigital syndrome type 2 (Orphanet:90652), Barth syndrome (Orphanet:111), Emery-Dreifuss muscular dystrophy (Orphanet:261), X-linked Emery-Dreifuss muscular dystrophy (Orphanet:98863), Endocardial fibroelastosis (Orphanet:2022), Dilated cardiomyopathy (Orphanet:217604), Rare cardiomyopathy (Orphanet:167848)

HPO phenotypes

1 total (1 of 1 shown, HPO-id order):

HPO	Term
HP:0001644	Dilated cardiomyopathy

GWAS associations

0 associations (top):

MeSH disease descriptors (7)

Descriptor	Name	Tree numbers
D056889	Barth Syndrome	C14.240.400.172; C14.280.400.172; C16.131.077.121; C16.131.240.400.172; C16.320.322.068; C16.320.565.398.224; C18.452.584.563.224; C18.452.648.398.224
D009202	Cardiomyopathies	C14.280.238
D002311	Cardiomyopathy, Dilated	C14.280.195.160; C14.280.238.070; C16.320.488.750
D004695	Endocardial Fibroelastosis	C14.280.238.281
D000083143	X-Linked Emery-Dreifuss Muscular Dystrophy	C05.651.534.500.350.500; C10.668.491.175.500.350.500; C16.320.322.625.500; C16.320.577.350.500
C538064	Frontometaphyseal dysplasia (supp.)
C538089	Oto-palato-digital syndrome, type 2 (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	increases methylation, affects cotreatment, decreases expression, affects expression	6
Benzo(a)pyrene	affects methylation, increases methylation	2
Tetrachlorodibenzodioxin	increases expression	2
GSK-J4	decreases expression	1
triphenyl phosphate	affects expression	1
trichostatin A	decreases expression	1
potassium chromate(VI)	decreases expression	1
isobutyl alcohol	decreases expression, increases abundance, affects cotreatment	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
abrine	decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
jinfukang	affects cotreatment, increases expression	1
gardiquimod	decreases expression, decreases reaction	1
Zoledronic Acid	increases expression	1
Arsenic Trioxide	increases expression	1
Cisplatin	affects cotreatment, increases expression	1
Doxorubicin	decreases expression	1
Gasoline	affects cotreatment, decreases expression, increases abundance	1
Polycyclic Aromatic Hydrocarbons	affects cotreatment, decreases expression, increases abundance	1
Quercetin	increases expression	1
Smoke	decreases expression	1
T-2 Toxin	decreases expression	1
Tobacco Smoke Pollution	affects expression	1
Tretinoin	increases expression	1
Vanadates	increases expression	1
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	increases expression	1
Cyclosporine	increases expression	1
Aflatoxin B1	decreases methylation	1
Cadmium Chloride	increases expression	1
Copper Sulfate	increases expression	1

Cellosaurus cell lines

1 cell lines: 1 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_D7NU	Ubigene A-549 DNASE1L1 KO	Cancer cell line	Male

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT05857085	PHASE4	COMPLETED	Novel Therapeutics and Endothelial Dysfunction in T1DM Patients
NCT07531251	PHASE4	NOT_YET_RECRUITING	Clinical Trial in Patients With Barth Syndrome- 4TAZPower
NCT00374465	PHASE4	UNKNOWN	Therapy With Verapamil or Carvedilol in Chronic Heart Failure
NCT01293903	PHASE4	COMPLETED	Study of Qiliqiangxin Capsule to Treat Dilated Cardiomyopathy
NCT01557140	PHASE4	COMPLETED	A Randomized Trial of Carvedilol in Chronic Chagas Cardiomyopathy
NCT01917149	PHASE4	COMPLETED	Supramaximal Titrated Inhibition of RAAS in Dilated Cardiomyopathy
NCT02115581	PHASE4	COMPLETED	Coenzyme Q10 Supplementation in Children With Idiopathic Dilated Cardiomyopathy
NCT06236022	PHASE4	RECRUITING	The Effects of Sirolimus in Patients With Dilated Cardiomyopathy Infected With Kaposi Sarcoma-associated Virus
NCT00348530	PHASE4	UNKNOWN	Carvedilol Versus Verapamil in Chronic Heart Failure Secondary to Non-Ischemic Cardiomyopathy
NCT00371891	PHASE4	COMPLETED	Ontario Multidetector Computed Tomographic (MDCT) Coronary Angiography Study (OMCAS)
NCT00401856	PHASE4	COMPLETED	CMR to Assess Fibrosis in Cardiomyopathy Using Eplerenone
NCT00559338	PHASE4	COMPLETED	Impact of Nesiritide Infusion for Decompensated Heart Failure in the Emergency Department
NCT00606775	PHASE4	UNKNOWN	The Preventive Efficacy of Carvedilol on Cardiac Dysfunction in Duchenne Muscular Dystrophy
NCT00658203	PHASE4	COMPLETED	Clinical Evaluation on Advanced Resynchronization
NCT00701220	PHASE4	COMPLETED	Statin Therapy for Ischemic and Nonischemic Cardiomyopathy
NCT00800761	PHASE4	COMPLETED	Intensive Combined Chelation Therapy for Iron-Induced Cardiac Disease in Patients With Thalassemia Major
NCT00806390	PHASE4	TERMINATED	Prevention of Anthracycline or Trastuzumab Induced Cardiomyopathy by Metoprolol
NCT01006473	PHASE4	COMPLETED	Exercise Training in Chagas Cardiomyopathy
NCT01261065	PHASE4	COMPLETED	Mechanisms of Improvement With Beta-Blocker Treatment in Heart Failure
NCT01345188	PHASE4	COMPLETED	Ranolazine in Ischemic Cardiomyopathy
NCT01868841	PHASE4	COMPLETED	123-I mIBG (AdreView) Heart-to-Mediastinal (H/M) Ratio and SPECT Imaging on a Small Field of View-High Efficiency Cardiac SPECT System
NCT02640846	PHASE4	UNKNOWN	Effects of Levosimendan, Milrinone and Norepinephrine on Left and Right Ventricular Function in Septic Shock
NCT03228823	PHASE4	UNKNOWN	Prospective Assessment of Premature Ventricular Contractions Suppression in Cardiomyopathy(PAPS)
NCT04323852	PHASE4	COMPLETED	Can Vitamin D Reduce Heart Muscle Damage After Bypass Surgery?
NCT05034432	PHASE4	RECRUITING	The PIVATAL Study -Study of Ventricular Arrhythmia (VTA) Ablation in Left Ventricular Assist Device (LVAD) Patients
NCT05718128	PHASE4	RECRUITING	Clinical Study of Endocardial Myocardial Biopsy
NCT06964464	PHASE4	RECRUITING	Comparative Effectiveness of Carvedilol Versus Metoprolol Succinate in Heart Failure Patients With an Implantable Cardioverter Defibrillator
NCT00333827	PHASE3	COMPLETED	Cell Therapy In Dilated Cardiomyopathy
NCT00505154	PHASE3	COMPLETED	Effect of Rosuvastatin on Left Ventricular Remodeling
NCT01223703	PHASE3	COMPLETED	PUFAs and Left Ventricular Function in Heart Failure
NCT01583114	PHASE3	TERMINATED	PREclinical Mutation CARriers From Families With DIlated Cardiomyopathy and ACE Inhibitors
NCT01914081	PHASE3	UNKNOWN	Resveratrol: A Potential Anti- Remodeling Agent in Heart Failure, From Bench to Bedside
NCT02989181	PHASE3	UNKNOWN	Continues Positive Airway Pressure Treatment for Patients With Dilated Cardiomyopathy and Obstructive Sleep Apnea
NCT03439514	PHASE3	TERMINATED	A Study of ARRY-371797 (PF-07265803) in Patients With Symptomatic Dilated Cardiomyopathy Due to a Lamin A/C Gene Mutation
NCT05237323	PHASE3	COMPLETED	Micophenolate Mofetil Versus Azathioprine in Myocarditis
NCT05849766	PHASE3	COMPLETED	Effect of Dapagliflozin on Cardiac Structure, Function and Secondary Mitral Regurgitation in Patients with Left Ventricle Dysfunction
NCT06250257	PHASE3	RECRUITING	Bromocriptine in Dilated Cardiomyopathy Among Women of Reproductive Age
NCT00170183	PHASE3	COMPLETED	Brain Natriuretic Peptide (BNP) to Preserve Renal Function in Hospitalized Patients With Heart Failure
NCT00270387	PHASE3	COMPLETED	A Study of Short-Term Outcomes and Economic Impact For Patients With Worsening Congestive Heart Failure When Natrecor (Nesiritide) is Added to Standard-Care Therapy, Compared to Administration of Placebo With Standard-Care Therapy
NCT00321295	PHASE3	COMPLETED	Biventricular Pacing In Patients With Left Ventricular Dysfunction After Cardiovascular Surgery