DDX41

Summary

DDX41 (DEAD-box helicase 41, HGNC:18674) is a protein-coding gene on chromosome 5q35.3, encoding Probable ATP-dependent RNA helicase DDX41 (Q9UJV9). Multifunctional protein that participates in many aspects of cellular RNA metabolism. It is a common-essential gene (DepMap: required in 100.0% of cancer cell lines) and haploinsufficient (ClinGen: sufficient evidence).

DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure, such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of the DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. The protein encoded by this gene is a member of the DEAD box protein family and interacts with several spliceosomal proteins. In addition, the encoded protein may recognize the bacterial second messengers cyclic di-GMP and cyclic di-AMP, resulting in the induction of genes involved in the innate immune response.

Source: NCBI Gene 51428 — RefSeq curated summary.

At a glance

• Gene–disease (curated): DDX41-related hematologic malignancy predisposition syndrome (Definitive, ClinGen) — +1 more curated relationship
• GWAS associations: 4
• Clinical variants (ClinVar): 1,393 total — 58 pathogenic, 44 likely-pathogenic
• Phenotypes (HPO): 14
• Druggable target: yes — 1 molecules with ChEMBL bioactivity
• Cancer dependency (DepMap): dependent in 100.0% of screened cell lines (common-essential)
• Dosage sensitivity (ClinGen): haploinsufficiency sufficient evidence, triplosensitivity no evidence
• MANE Select transcript: NM_016222

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:18674
Approved symbol	DDX41
Name	DEAD-box helicase 41
Location	5q35.3
Locus type	gene with protein product
Status	Approved
Aliases	ABS, MGC8828
Ensembl gene	ENSG00000183258
Ensembl biotype	protein_coding
OMIM	608170
Entrez	51428

Gene structure

Transcript identifiers

Ensembl transcripts: 32 — 13 retained_intron, 12 protein_coding, 5 nonsense_mediated_decay, 2 protein_coding_CDS_not_defined

ENST00000330503, ENST00000503078, ENST00000504781, ENST00000504807, ENST00000505081, ENST00000506965, ENST00000507900, ENST00000507955, ENST00000508279, ENST00000509576, ENST00000510171, ENST00000511040, ENST00000512027, ENST00000512334, ENST00000512431, ENST00000513562, ENST00000515562, ENST00000625286, ENST00000629036, ENST00000650742, ENST00000652565, ENST00000652618, ENST00000652623, ENST00000904582, ENST00000904583, ENST00000904584, ENST00000904585, ENST00000904586, ENST00000904587, ENST00000935788, ENST00000935789, ENST00000959789

RefSeq mRNA: 3 — MANE Select: NM_016222 NM_001321732, NM_001321830, NM_016222

CCDS: CCDS4427

Canonical transcript exons

ENST00000330503 — 17 exons

Exon	Start	End
ENSE00003469987	177512496	177512645
ENSE00003512147	177516288	177516447
ENSE00003525184	177516119	177516193
ENSE00003527821	177511577	177511927
ENSE00003535690	177514701	177514837
ENSE00003546567	177515929	177515989
ENSE00003582082	177513011	177513082
ENSE00003589950	177513685	177513847
ENSE00003590706	177514916	177515069
ENSE00003593376	177515186	177515258
ENSE00003602667	177512322	177512393
ENSE00003627584	177513353	177513484
ENSE00003631563	177516725	177516835
ENSE00003654389	177515685	177515821
ENSE00003662308	177512780	177512876
ENSE00003681026	177516919	177516961
ENSE00003686985	177512096	177512206

Expression profiles

Bgee: expression breadth ubiquitous, 274 present calls, max score 95.70.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 34.0707 / max 197.0913, expressed in 1821 samples.

FANTOM5 promoters (8 alternative TSS)

Promoter ID	TPM avg	Samples expressed
65146	27.7100	1819
65144	1.9550	1042
65145	1.5202	929
65140	1.0482	779
65142	0.7659	361
65139	0.4424	244
65141	0.3464	172
65143	0.2825	140

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
granulocyte	CL:0000094	95.70	gold quality
right frontal lobe	UBERON:0002810	95.69	gold quality
lower esophagus mucosa	UBERON:0035834	95.54	gold quality
anterior cingulate cortex	UBERON:0009835	95.51	gold quality
cingulate cortex	UBERON:0003027	95.49	gold quality
sural nerve	UBERON:0015488	95.48	gold quality
mucosa of transverse colon	UBERON:0004991	95.07	gold quality
right hemisphere of cerebellum	UBERON:0014890	95.03	gold quality
stromal cell of endometrium	CL:0002255	95.00	gold quality
prefrontal cortex	UBERON:0000451	94.80	gold quality
nucleus accumbens	UBERON:0001882	94.79	gold quality
cerebellar hemisphere	UBERON:0002245	94.79	gold quality
monocyte	CL:0000576	94.77	gold quality
cerebellar cortex	UBERON:0002129	94.76	gold quality
mononuclear cell	CL:0000842	94.54	gold quality
metanephros cortex	UBERON:0010533	94.53	gold quality
leukocyte	CL:0000738	94.50	gold quality
caudate nucleus	UBERON:0001873	94.49	gold quality
putamen	UBERON:0001874	94.47	gold quality
skin of leg	UBERON:0001511	94.39	gold quality
amygdala	UBERON:0001876	94.36	gold quality
skin of abdomen	UBERON:0001416	94.35	gold quality
left lobe of thyroid gland	UBERON:0001120	94.33	gold quality
ganglionic eminence	UBERON:0004023	94.33	gold quality
spleen	UBERON:0002106	94.32	gold quality
Brodmann (1909) area 9	UBERON:0013540	94.23	gold quality
right lobe of thyroid gland	UBERON:0001119	94.20	gold quality
embryo	UBERON:0000922	94.03	gold quality
esophagus mucosa	UBERON:0002469	94.01	gold quality
cerebellum	UBERON:0002037	93.89	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.16

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

17 targeting DDX41, 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-520G-5P	99.99	66.76	658
HSA-MIR-651-3P	99.94	73.48	5177
HSA-MIR-4731-5P	99.89	67.23	2537
HSA-MIR-4496	99.88	68.89	2236
HSA-MIR-4306	99.72	70.50	3630
HSA-MIR-4261	99.59	70.30	3415
HSA-MIR-147B-5P	99.45	70.62	2432
HSA-MIR-185-5P	99.35	68.60	2497
HSA-MIR-4644	99.35	69.12	2514
HSA-MIR-4999-5P	99.35	69.15	926
HSA-MIR-3160-3P	99.07	64.78	955
HSA-MIR-7155-5P	98.65	66.14	1290
HSA-MIR-4463	98.56	66.05	1071
HSA-MIR-6881-5P	98.16	67.38	665
HSA-MIR-432-5P	98.00	68.13	989
HSA-MIR-12127	97.93	66.67	793
HSA-MIR-4652-5P	96.46	64.22	553

Functional genomics

ClinGen dosage: haploinsufficiency 3 (sufficient evidence), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map DepMap (CRISPR cell-line fitness): dependent in 100.0% of screened cell lines, common-essential.

Literature-anchored findings (GeneRIF, showing 40)

• The N-terminal domain of Abs interacts with the phox homology (PX) domain of SNX2 suggesting that PX domains may also participate in protein-protein interaction. (PMID:15690390)
• DDX41 is an additional DNA sensor that depends on STING to sense pathogenic DNA. (PMID:21892174)
• results suggest a mechanism whereby c-di-GMP and c-di-AMP are detected by DDX41, which forms a complex with STING to signal to TBK1-IRF3 and activate the interferon response (PMID:23142775)
• corresponding deletions on 5q35.3 present in 6% of cases led to haploinsufficient DDX41 expression. DDX41 lesions caused altered pre-mRNA splicing and RNA processing (PMID:25920683)
• This study expands both the mutation and phenotypic spectra observed in families with germ line DDX41 mutations. (PMID:26712909)
• Two novel germline DDX41 mutations in a family with inherited myelodysplasia/acute myeloid leukemia. (PMID:26944477)
• analysis suggests that rather than establishing a causal Mendelian link between DDX41 germline LOF variants and MDS/AML it is appropriate to consider these as genetic risk factors (PMID:27133828)
• This study uncovered a pathogenic role of p.R525H DDX41 in the slow growth rate of tumor cells. Age-dependent epigenetic alterations or other somatic changes might collaborate with the mutation to cause AML. (PMID:27174803)
• An increasing number of both inherited and acquired mutations in DDX41 gene are identified from myelodysplastic syndrome and/or acute myeloid leukemia (MDS/AML) patients. (PMID:27502187)
• Results show that the DDX41 DEAD domain recognizes both double-stranded DNA (dsDNA) and cyclic dinucleotides (CDN) at the same binding site. A structural comparison between the open and closed forms of the DDX41 DEAD domain revealed the structural rearrangement in the N-terminal region, which drastically changes the conformation of the ATP-binding site. (PMID:27721487)
• Structural and functional analyses of human DDX41 DEAD domain. (PMID:27928732)
• data demonstrate that DDX41 suppresses p21 translation without disturbing the function of p53 to directly induce p21 mRNA expression, this process indirectly requires p53, perhaps in the form of another p53 target gene or as a still undefined posttranscriptional function of p53. (PMID:28348086)
• DDX41 mutations lead to development of high-risk myelodysplastic syndrome.(review) (PMID:28547672)
• bi-allelic mutations in DDX41 could potentially be a new cancer predisposition syndrome associated with delayed psychomotor development (PMID:30144193)
• Patients with myeloid neoplasms carrying DDX41 mutations show male predominance (3:1), higher age at presentation, association with TP53 mutations, and association with high-grade myeloid neoplasms in our cohort at a referral cancer center setting. (PMID:30963592)
• Herpes Simplex Virus Type 1-Encoded miR-H2-3p Manipulates Cytosolic DNA-Stimulated Antiviral Innate Immune Response by Targeting DDX41. (PMID:31443275)
• This study highlights that germline DDX41 mutations are relatively common in adult myelodysplastic syndromes and acute myeloid leukemias often without known family history, arguing for systematic screening. (PMID:31484648)
• Molecular and clinical features of myeloid neoplasms with somatic DDX41 mutations. (PMID:32307695)
• Unique ethnic features of DDX41 mutations in patients with idiopathic cytopenia of undetermined significance, myelodysplastic syndrome, or acute myeloid leukemia. (PMID:33626862)
• DDX41 regulates the expression and alternative splicing of genes involved in tumorigenesis and immune response. (PMID:33650667)
• DDX41: a multifunctional DEAD-box protein involved in pre-mRNA splicing and innate immunity. (PMID:33711218)
• New dead/H-box helicase gene (ddx41) mutation in an Italian family with recurrent leukemia. (PMID:33836623)
• Clinical and Pathologic Spectrum of DDX41-Mutated Hematolymphoid Neoplasms. (PMID:33929502)
• Genetic features and clinical outcomes of patients with isolated and comutated DDX41-mutated myeloid neoplasms. (PMID:34644397)
• AML with germline DDX41 variants is a clinicopathologically distinct entity with an indolent clinical course and favorable outcome. (PMID:34671111)
• R-loop proximity proteomics identifies a role of DDX41 in transcription-associated genomic instability. (PMID:34916496)
• The genetic landscape of germline DDX41 variants predisposing to myeloid neoplasms. (PMID:35671390)
• Germline and Somatic Defects in DDX41 and its Impact on Myeloid Neoplasms. (PMID:35781188)
• DDX41 expression is associated with tumor necrosis in clear cell renal cell carcinoma and in cooperation with VHL loss leads to worse prognosis. (PMID:35918249)
• Clinical and mechanistic insights into the roles of DDX41 in haematological malignancies. (PMID:36036093)
• Germ line DDX41 mutations define a unique subtype of myeloid neoplasms. (PMID:36322930)
• DDX41-associated susceptibility to myeloid neoplasms. (PMID:36455200)
• Ribosome profiling analysis reveals the roles of DDX41 in translational regulation. (PMID:36780110)
• Clinical and molecular correlates of somatic and germline DDX41 variants in patients and families with myeloid neoplasms. (PMID:37199125)
• Somatic mutational landscape of hereditary hematopoietic malignancies caused by germline variants in RUNX1, GATA2, and DDX41. (PMID:37406166)
• Prevalence and significance of DDX41 gene variants in the general population. (PMID:37506341)
• Germline DDX41 mutant predisposition syndromes: Slow driver states to hematological malignancies. (PMID:37705260)
• The clinical and genomic landscape of patients with DDX41 variants identified during diagnostic sequencing. (PMID:37874914)
• Spliceosomal helicases DDX41/SACY-1 and PRP22/MOG-5 both contribute to proofreading against proximal 3’ splice site usage. (PMID:38282418)
• Evaluation of the pathogenic potential of germline DDX41 variants in hematopoietic neoplasms using the ACMG/AMP guidelines. (PMID:38492200)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
		ENSDARG00000099739
mus_musculus	Ddx41	ENSMUSG00000021494
rattus_norvegicus	Ddx41	ENSRNOG00000012771
rattus_norvegicus	Ddx41l1	ENSRNOG00000050817
drosophila_melanogaster	abs	FBGN0015331
caenorhabditis_elegans	sacy-1	WBGENE00019245

Paralogs (38): DDX20 (ENSG00000064703), DDX3Y (ENSG00000067048), DDX1 (ENSG00000079785), DDX43 (ENSG00000080007), DDX18 (ENSG00000088205), DDX24 (ENSG00000089737), DDX17 (ENSG00000100201), DDX49 (ENSG00000105671), DDX50 (ENSG00000107625), DDX5 (ENSG00000108654), DDX25 (ENSG00000109832), DDX6 (ENSG00000110367), DDX55 (ENSG00000111364), DDX59 (ENSG00000118197), DDX54 (ENSG00000123064), DDX39A (ENSG00000123136), DDX27 (ENSG00000124228), DDX31 (ENSG00000125485), DDX56 (ENSG00000136271), EIF4A3 (ENSG00000141543), DDX46 (ENSG00000145833), DDX4 (ENSG00000152670), EIF4A2 (ENSG00000156976), DDX19B (ENSG00000157349), EIF4A1 (ENSG00000161960), DDX21 (ENSG00000165732), DDX19A (ENSG00000168872), TDRD12 (ENSG00000173809), DDX23 (ENSG00000174243), DDX10 (ENSG00000178105), DDX28 (ENSG00000182810), DDX53 (ENSG00000184735), DDX51 (ENSG00000185163), DDX42 (ENSG00000198231), DDX39B (ENSG00000198563), DDX47 (ENSG00000213782), DDX3X (ENSG00000215301), DDX52 (ENSG00000278053)

Protein

Protein identifiers

Probable ATP-dependent RNA helicase DDX41 — Q9UJV9 (reviewed: Q9UJV9)

Alternative names: DEAD box protein 41, DEAD box protein abstrakt homolog

All UniProt accessions (6): A0A499FJW5, D6RD33, D6RGI7, Q9UJV9, H0Y8L8, H0YA06

UniProt curated annotations — full annotation on UniProt →

Function. Multifunctional protein that participates in many aspects of cellular RNA metabolism. Plays pivotal roles in innate immune sensing and hematopoietic homeostasis. Recognizes foreign or self-nucleic acids generated during microbial infection, thereby initiating anti-pathogen responses. Mechanistically, phosphorylation by BTK allows binding to dsDNA leading to interaction with STING1. Modulates the homeostasis of dsDNA through its ATP-dependent DNA-unwinding activity and ATP-independent strand-annealing activity. In turn, induces STING1-mediated type I interferon and cytokine responses to DNA and DNA viruses. Selectively modulates the transcription of certain immunity-associated genes by regulating their alternative splicing. Binds to RNA (R)-loops, structures consisting of DNA/RNA hybrids and a displaced strand of DNA that occur during transcription, and prevents their accumulation, thereby maintaining genome stability. Also participates in pre-mRNA splicing, translational regulation and snoRNA processing, which is essential for ribosome biogenesis.

Subunit / interactions. Identified in the spliceosome C complex. Interacts with ERCC6. Interacts with FAM50A. Interacts with STING1. Interacts with CGAS. Interacts with several spliceosomes components such as PRP19 or CDC5L.

Subcellular location. Nucleus. Cytoplasm.

Post-translational modifications. Acetylation at Lys-9 regulates the nuclear/cytoplasmic localization. Phosphorylated by BTK; phosphorylation induces binding to dsDNA and STING1. ‘Lys-48’-linked ubiquitinated and degraded by TRIM21 leading to negative regulation of the innate immune response to intracellular dsDNA.

Disease relevance. Myeloproliferative/lymphoproliferative neoplasms, familial (MPLPF) [MIM:616871] A familial cancer predisposition syndrome with incomplete penetrance, characterized by increased susceptibility to myeloid neoplasms and rarely to lymphoid malignancies. MPLPF inheritance is autosomal dominant. Disease susceptibility is associated with variants affecting the gene represented in this entry.

Similarity. Belongs to the DEAD box helicase family. DDX41 subfamily.

RefSeq proteins (3): NP_001308661, NP_001308759, NP_057306* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001650	Helicase_C-like	Domain
IPR011545	DEAD/DEAH_box_helicase_dom	Domain
IPR014001	Helicase_ATP-bd	Domain
IPR014014	RNA_helicase_DEAD_Q_motif	Domain
IPR027417	P-loop_NTPase	Homologous_superfamily
IPR044113	DEADc_DDX41	Domain

Pfam: PF00270, PF00271

Catalyzed reactions (Rhea), 1 shown:

• ATP + H2O = ADP + phosphate + H(+) (RHEA:13065)

UniProt features (70 total): helix 18, strand 14, sequence conflict 8, modified residue 6, mutagenesis site 5, cross-link 4, sequence variant 3, domain 2, turn 2, region of interest 2, short sequence motif 2, chain 1, zinc finger region 1, compositionally biased region 1, binding site 1

Structure

Experimental structures (PDB)

5 structures.

PDB	Method	Resolution (Å)
5GVR	X-RAY DIFFRACTION	1.5
5GVS	X-RAY DIFFRACTION	2.2
5H1Y	X-RAY DIFFRACTION	2.26
2P6N	X-RAY DIFFRACTION	2.6
8C6J	ELECTRON MICROSCOPY	2.8

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9UJV9-F1	78.38	0.39

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 (1): 225–232

Post-translational modifications (10): 4, 9, 21, 23, 33, 414, 9, 115, 416, 442

Mutagenesis-validated functional residues (5):

Position	Phenotype
9	complete loss of trim21-mediated ubiquitination; when associated with r-115.
115	complete loss of trim21-mediated ubiquitination; when associated with r-9.
345	complete loss of atp-hydrolysis activity.
364	strong loss of binding to dsdna and sting1.
414	strong loss of binding to dsdna and sting1.

Function

Pathways and Gene Ontology

Reactome pathways

4 pathways

ID	Pathway
R-HSA-1834941	STING mediated induction of host immune responses
R-HSA-3134975	Regulation of innate immune responses to cytosolic DNA
R-HSA-3270619	IRF3-mediated induction of type I IFN
R-HSA-72163	mRNA Splicing - Major Pathway

MSigDB gene sets: 201 (showing top): REACTOME_INNATE_IMMUNE_SYSTEM, GOBP_RESPONSE_TO_PEPTIDE, GOBP_RESPONSE_TO_INTERFERON_BETA, GOBP_POSITIVE_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS, GOBP_REGULATION_OF_IMMUNE_RESPONSE, GOBP_DEFENSE_RESPONSE_TO_OTHER_ORGANISM, REACTOME_PROCESSING_OF_CAPPED_INTRON_CONTAINING_PRE_MRNA, GOBP_REGULATION_OF_RESPONSE_TO_STRESS, GOBP_RNA_SPLICING, REACTOME_MRNA_SPLICING, GOBP_DEFENSE_RESPONSE_TO_VIRUS, GOBP_POSITIVE_REGULATION_OF_RESPONSE_TO_BIOTIC_STIMULUS, GOBP_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS, GOBP_INTRACELLULAR_RECEPTOR_SIGNALING_PATHWAY, GOBP_REGULATION_OF_RESPONSE_TO_BIOTIC_STIMULUS

GO Biological Process (11): mRNA splicing, via spliceosome (GO:0000398), apoptotic process (GO:0006915), cell population proliferation (GO:0008283), cell differentiation (GO:0030154), cellular response to interferon-beta (GO:0035458), positive regulation of transcription by RNA polymerase II (GO:0045944), defense response to virus (GO:0051607), cGAS/STING signaling pathway (GO:0140896), mRNA processing (GO:0006397), RNA splicing (GO:0008380), positive regulation of type I interferon production (GO:0032481)

GO Molecular Function (13): DNA binding (GO:0003677), RNA binding (GO:0003723), RNA helicase activity (GO:0003724), mRNA binding (GO:0003729), ATP binding (GO:0005524), zinc ion binding (GO:0008270), ATP hydrolysis activity (GO:0016887), nucleotide binding (GO:0000166), nucleic acid binding (GO:0003676), helicase activity (GO:0004386), protein binding (GO:0005515), hydrolase activity (GO:0016787), metal ion binding (GO:0046872)

GO Cellular Component (8): nucleus (GO:0005634), nucleoplasm (GO:0005654), spliceosomal complex (GO:0005681), endoplasmic reticulum (GO:0005783), cytosol (GO:0005829), membrane (GO:0016020), catalytic step 2 spliceosome (GO:0071013), cytoplasm (GO:0005737)

Reactome top-level categories

Rollup of top-3 pathways:

Category	Pathways
Cytosolic sensors of pathogen-associated DNA	2
STING mediated induction of host immune responses	1
mRNA Splicing	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	4
RNA processing	2
nucleic acid binding	2
ATP-dependent activity	2
binding	2
intracellular membrane-bounded organelle	2
cytoplasm	2
RNA splicing, via transesterification reactions with bulged adenosine as nucleophile	1
mRNA processing	1
programmed cell death	1
apoptotic signaling pathway	1
execution phase of apoptosis	1
cellular process	1
cellular developmental process	1
response to interferon-beta	1
cellular response to cytokine stimulus	1
regulation of transcription by RNA polymerase II	1
transcription by RNA polymerase II	1
positive regulation of DNA-templated transcription	1
defense response	1
response to virus	1
cytoplasmic pattern recognition receptor signaling pathway	1
mRNA metabolic process	1
positive regulation of cytokine production	1
regulation of type I interferon production	1
type I interferon production	1
helicase activity	1
ATP-dependent activity, acting on RNA	1
catalytic activity, acting on RNA	1
RNA binding	1
adenyl ribonucleotide binding	1
purine ribonucleoside triphosphate binding	1
transition metal ion binding	1
ribonucleoside triphosphate phosphatase activity	1
nucleoside phosphate binding	1
heterocyclic compound binding	1
nucleic acid conformation isomerase activity	1
catalytic activity, acting on a nucleic acid	1
catalytic activity	1
cation binding	1

Protein interactions and networks

STRING

2079 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
DDX41	CGAS	Q8N884	871
DDX41	TBK1	Q9UHD2	868
DDX41	IRF3	Q14653	816
DDX41	IFI16	Q16666	808
DDX41	TRIM21	P19474	759
DDX41	MAVS	Q7Z434	752
DDX41	LRRFIP1	Q32MZ4	738
DDX41	DHX36	Q9H2U1	736
DDX41	ANKRD26	Q9UPS8	696
DDX41	DHX9	Q08211	691
DDX41	AIM2	O14862	683
DDX41	STING1	Q86WV6	673
DDX41	RIGI	O95786	662
DDX41	IFIH1	Q9BYX4	607
DDX41	PPWD1	Q96BP3	606

IntAct

109 interactions, top by confidence:

A	B	Type	Score
CSNK2A2	EIF3J	psi-mi:“MI:0914”(association)	0.790
SIN3A	RBBP4	psi-mi:“MI:0914”(association)	0.790
DDX41	NKAP	psi-mi:“MI:0915”(physical association)	0.720
NKAP	NOS1AP	psi-mi:“MI:0914”(association)	0.660
DDX41	SF3B1	psi-mi:“MI:0914”(association)	0.600
SIAH1	DDX41	psi-mi:“MI:0915”(physical association)	0.560
CEP70	DDX41	psi-mi:“MI:0915”(physical association)	0.560
DDX41	SIAH1	psi-mi:“MI:0915”(physical association)	0.560
DDX41	CEP70	psi-mi:“MI:0915”(physical association)	0.560
AIDA	DDX41	psi-mi:“MI:0915”(physical association)	0.560
NKAPL	DDX41	psi-mi:“MI:0915”(physical association)	0.560
HTT	DDX41	psi-mi:“MI:0915”(physical association)	0.560
YWHAG	SHTN1	psi-mi:“MI:0914”(association)	0.560
DDX41	NOS1AP	psi-mi:“MI:0914”(association)	0.530
CBY1	CFAP410	psi-mi:“MI:0914”(association)	0.510
DDX41	ABL1	psi-mi:“MI:0915”(physical association)	0.400

BioGRID (200): DDX41 (Two-hybrid), CEP70 (Two-hybrid), DDX41 (Affinity Capture-RNA), DDX41 (Affinity Capture-RNA), DDX41 (Affinity Capture-RNA), DDX41 (Affinity Capture-MS), DDX41 (Affinity Capture-MS), CLVS2 (Co-fractionation), PITRM1 (Co-fractionation), DDX41 (Affinity Capture-MS), DDX41 (Affinity Capture-MS), DDX41 (Affinity Capture-MS), DDX41 (Affinity Capture-MS), DDX41 (Affinity Capture-MS), DDX41 (Affinity Capture-MS)

ESM2 similar proteins: A2VD92, A5D7C1, A5DIX5, A5E1N2, A6ZU15, O16102, O74393, P23394, P45818, P54823, Q07886, Q09775, Q0DBS1, Q0IHV9, Q0IIK5, Q10202, Q19614, Q4R7L5, Q55CP6, Q5NVJ8, Q5T1V6, Q5XH91, Q641Y8, Q6AZV7, Q6C024, Q6CDS6, Q6CKI1, Q6FM43, Q7FGZ2, Q84T03, Q86TM3, Q8GXD6, Q90WU3, Q91VN6, Q91VR5, Q92499, Q9C551, Q9DBN9, Q9DF35, Q9FLB0

Diamond homologs: A1CHL3, A1CQA9, A1CX72, A1D373, A2QIL2, A2QQA8, A3LNL1, A3LQW7, A4QSS5, A4RK80, A5DF03, A5DL80, A5DS77, A5DU73, A6RJA2, A6ZRX0, A7EGG4, G0SFM2, O22907, P0CQ88, P0CQ89, P0CQ98, P0CQ99, P23394, P24783, P46942, P93008, Q0CLX0, Q0D1K3, Q0DB53, Q0E3X4, Q0J7Y8, Q0UWC8, Q10MH8, Q1DMX8, Q2HEB0, Q2R1M8, Q2U070, Q2U2J6, Q2UH00

SIGNOR signaling

3 interactions.

A	Effect	B	Mechanism
TRIM21	“down-regulates quantity”	DDX41	ubiquitination
DDX41	“up-regulates activity”	STING1	binding
BTK	“up-regulates activity”	DDX41	phosphorylation

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 117 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
FCGR3A-mediated phagocytosis	5	12.3×	3e-03
mRNA Splicing	7	10.1×	8e-04
Differentiation of naive CD4+ T cells to T helper 2 cells (Th2 cells)	5	9.6×	6e-03
Cellular response to chemical stress	5	9.4×	7e-03
Processing of Capped Intron-Containing Pre-mRNA	8	8.7×	8e-04
Regulation of PD-L1(CD274) transcription	6	8.6×	4e-03
ESR-mediated signaling	5	8.4×	1e-02
mRNA Splicing - Major Pathway	11	7.9×	9e-05

GO biological processes:

GO term	Partners	Fold	FDR
mRNA splicing, via spliceosome	10	9.2×	2e-04
DNA damage response	11	5.9×	1e-03

Disease & clinical

Cancer significance

Clinical variants and AI predictions

ClinVar

1393 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	58
Likely pathogenic	44
Uncertain significance	607
Likely benign	503
Benign	26

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1076947	NM_016222.4(DDX41):c.916C>T (p.Gln306Ter)	Pathogenic
1200681	NM_016222.4(DDX41):c.946_947del (p.Met316fs)	Pathogenic
1211430	NM_016222.4(DDX41):c.1141A>T (p.Lys381Ter)	Pathogenic
1312513	NM_016222.4(DDX41):c.1496dup (p.Ala500fs)	Pathogenic
1327658	NM_016222.4(DDX41):c.931C>T (p.Arg311Ter)	Pathogenic
1327775	NM_016222.4(DDX41):c.475C>T (p.Arg159Ter)	Pathogenic
1338232	NM_016222.4(DDX41):c.1285C>T (p.Gln429Ter)	Pathogenic
1338505	NM_016222.4(DDX41):c.986del (p.Gln329fs)	Pathogenic
1338509	NM_016222.4(DDX41):c.1394del (p.Gly465fs)	Pathogenic
1338548	NM_016222.4(DDX41):c.1108C>T (p.Gln370Ter)	Pathogenic
1707083	NM_016222.4(DDX41):c.1A>C (p.Met1Leu)	Pathogenic
2101768	NM_016222.4(DDX41):c.814C>T (p.Gln272Ter)	Pathogenic
2111172	NM_016222.4(DDX41):c.1431del (p.Phe478fs)	Pathogenic
2426285	NC_000005.9:g.(?176935330)(176942071_?)del	Pathogenic
2500216	NM_016222.4(DDX41):c.1603_1605delinsA (p.Phe535fs)	Pathogenic
2500217	NM_016222.4(DDX41):c.1231-3C>G	Pathogenic
2699965	NM_016222.4(DDX41):c.438G>A (p.Trp146Ter)	Pathogenic
2783944	NM_016222.4(DDX41):c.409dup (p.Thr137fs)	Pathogenic
2812431	NM_016222.4(DDX41):c.1014_1023del (p.Cys338fs)	Pathogenic
3011422	NM_016222.4(DDX41):c.1154_1155del (p.Phe385fs)	Pathogenic
3602281	NM_016222.4(DDX41):c.1585dup (p.Thr529fs)	Pathogenic
3641529	NM_016222.4(DDX41):c.97dup (p.Tyr33fs)	Pathogenic
3644045	NM_016222.4(DDX41):c.386dup (p.Lys130fs)	Pathogenic
3659550	NM_016222.4(DDX41):c.64del (p.Arg22fs)	Pathogenic
3663114	NM_016222.4(DDX41):c.626del (p.Ile209fs)	Pathogenic
3688721	NM_016222.4(DDX41):c.758C>G (p.Ser253Ter)	Pathogenic
3766931	NM_016222.4(DDX41):c.434+1G>T	Pathogenic
3838906	NM_016222.4(DDX41):c.151del (p.Leu51fs)	Pathogenic
3838998	NM_016222.4(DDX41):c.504_505del (p.Ile169fs)	Pathogenic
3899306	NM_016222.4(DDX41):c.547T>A (p.Phe183Ile)	Pathogenic

SpliceAI

2819 predictions. Top by Δscore:

Variant	Effect	Δscore
5:177512036:T:TA	donor_gain	1.0000
5:177512047:T:TA	donor_gain	1.0000
5:177512097:T:TA	donor_gain	1.0000
5:177512118:ATC:A	donor_gain	1.0000
5:177512118:ATCC:A	donor_gain	1.0000
5:177512202:CTCAT:C	acceptor_gain	1.0000
5:177512203:TCAT:T	acceptor_gain	1.0000
5:177512204:CAT:C	acceptor_gain	1.0000
5:177512204:CATC:C	acceptor_gain	1.0000
5:177512205:AT:A	acceptor_gain	1.0000
5:177512206:TCT:T	acceptor_loss	1.0000
5:177512207:C:CC	acceptor_gain	1.0000
5:177512208:T:A	acceptor_loss	1.0000
5:177512318:TCA:T	donor_loss	1.0000
5:177512319:CA:C	donor_loss	1.0000
5:177512320:A:AC	donor_gain	1.0000
5:177512320:AC:A	donor_gain	1.0000
5:177512321:C:CA	donor_gain	1.0000
5:177512321:CC:C	donor_gain	1.0000
5:177512321:CCA:C	donor_gain	1.0000
5:177512321:CCACA:C	donor_gain	1.0000
5:177512389:GTGTA:G	acceptor_gain	1.0000
5:177512390:TGTA:T	acceptor_gain	1.0000
5:177512391:GTA:G	acceptor_gain	1.0000
5:177512392:TA:T	acceptor_gain	1.0000
5:177512393:ACT:A	acceptor_loss	1.0000
5:177512394:C:CC	acceptor_gain	1.0000
5:177512395:T:C	acceptor_loss	1.0000
5:177512397:C:CT	acceptor_gain	1.0000
5:177512490:TCTTA:T	donor_loss	1.0000

AlphaMissense

4078 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
5:177511875:G:C	C595W	1.000
5:177511876:C:G	C595S	1.000
5:177511876:C:T	C595Y	1.000
5:177511877:A:G	C595R	1.000
5:177511877:A:T	C595S	1.000
5:177511907:A:G	C585R	1.000
5:177511914:A:C	C582W	1.000
5:177511915:C:G	C582S	1.000
5:177511915:C:T	C582Y	1.000
5:177511916:A:G	C582R	1.000
5:177511916:A:T	C582S	1.000
5:177512165:C:G	A555P	1.000
5:177512173:A:G	L552P	1.000
5:177512176:A:G	L551P	1.000
5:177512185:A:G	L548P	1.000
5:177512348:G:T	A532D	1.000
5:177512349:C:G	A532P	1.000
5:177512354:C:A	G530V	1.000
5:177512354:C:T	G530D	1.000
5:177512355:C:G	G530R	1.000
5:177512369:C:G	R525P	1.000
5:177512370:G:T	R525S	1.000
5:177512372:C:A	G524V	1.000
5:177512372:C:T	G524E	1.000
5:177512373:C:A	G524W	1.000
5:177512373:C:G	G524R	1.000
5:177512373:C:T	G524R	1.000
5:177512378:C:G	R522P	1.000
5:177512378:C:T	R522H	1.000
5:177512379:G:A	R522C	1.000

dbSNP variants (sampled 300 via entrez): RS1000039111 (5:177514836 C>A,T), RS1000522243 (5:177513960 C>T), RS1000656772 (5:177513680 G>A), RS1000891732 (5:177517691 A>C), RS1001297169 (5:177513981 C>A,T), RS1002126694 (5:177517897 C>G), RS1002552570 (5:177517631 A>C,G), RS1003680091 (5:177515624 G>A,C,T), RS1003723083 (5:177511450 G>A,T), RS1004241531 (5:177515253 G>C), RS1005086944 (5:177514505 C>T), RS1005966363 (5:177518855 G>A), RS1006076631 (5:177513262 A>G), RS1006140391 (5:177517136 C>T), RS1006191341 (5:177517310 T>A,C)

Disease associations

OMIM: gene MIM:608170 | disease phenotypes: MIM:616871, MIM:616220, MIM:614286, MIM:601626, MIM:609135

GenCC curated gene-disease

Disease	Classification	Inheritance
DDX41-related hematologic malignancy predisposition syndrome	Definitive	Autosomal dominant
acromesomelic dysplasia	Limited	Autosomal recessive

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
DDX41-related hematologic malignancy predisposition syndrome	Definitive	AD

Mondo (8): DDX41-related hematologic malignancy predisposition syndrome (MONDO:0014809), focal segmental glomerulosclerosis 9 (MONDO:0014539), inherited acute myeloid leukemia (MONDO:0017893), myelodysplastic syndrome (MONDO:0018881), acute myeloid leukemia (MONDO:0018874), hereditary neoplastic syndrome (MONDO:0015356), aplastic anemia (MONDO:0015909), acromesomelic dysplasia (MONDO:0019696)

Orphanet (8): DDX41-related hematologic malignancy predisposition syndrome (Orphanet:488647), Inherited acute myeloid leukemia (Orphanet:319465), Hereditary steroid-resistant nephrotic syndrome (Orphanet:656), Myelodysplastic syndrome (Orphanet:52688), Acute myeloid leukemia (Orphanet:519), Inherited cancer-predisposing syndrome (Orphanet:140162), Rare aplastic anemia (Orphanet:182040), Idiopathic aplastic anemia (Orphanet:88)

HPO phenotypes

14 total (14 of 14 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000964	Eczematoid dermatitis
HP:0001882	Decreased total leukocyte count
HP:0002099	Asthma
HP:0002665	Lymphoma
HP:0002725	Systemic lupus erythematosus
HP:0002863	Myelodysplasia
HP:0003581	Adult onset
HP:0003829	Typified by incomplete penetrance
HP:0004808	Acute myeloid leukemia
HP:0005505	Refractory anemia
HP:0005528	Bone marrow hypocellularity
HP:0012311	Increased total monocyte count
HP:0031688	Erythroid dysplasia

GWAS associations

4 associations (top):

Study	Trait	p-value
GCST005194_201	Coronary artery disease	1.000000e-06
GCST005956_15	Waist-to-hip ratio adjusted for BMI	1.000000e-07
GCST005957_13	Waist-to-hip ratio adjusted for BMI (age <50)	3.000000e-07
GCST005962_42	Waist-to-hip ratio adjusted for BMI x sex x age interaction (4df test)	1.000000e-08

EFO canonical traits (3, from GWAS)

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

MeSH disease descriptors (4)

Descriptor	Name	Tree numbers
D000741	Anemia, Aplastic	C15.378.050.085; C15.378.190.223.250
D015470	Leukemia, Myeloid, Acute	C04.557.337.539.275; C15.378.508.539.275
D009386	Neoplastic Syndromes, Hereditary	C04.700; C16.320.700
C535658	Acromesomelic dysplasia (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL5724760 (SINGLE PROTEIN)

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

2 potent at pChembl≥5 of 2 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
7.16	Kd	69	nM	MOLIBRESIB
7.05	IC50	90	nM	MOLIBRESIB

PubChem BioAssay actives

2 with measured affinity, of 7 total; 1 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
2-[(4S)-6-(4-chlorophenyl)-8-methoxy-1-methyl-4H-[1,2,4]triazolo[4,3-a][1,4]benzodiazepin-4-yl]-N-ethylacetamide	2179083: Binding affinity against DDX41 (unknown origin) assessed as apparent dissociation constant incubated for 1 hr by colloidal coomassie staining based LC-MS/MS analysis	kd	0.0690	uM

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
FR900359	increases phosphorylation	1
triphenyl phosphate	affects expression	1
alpha-pinene	affects cotreatment, increases oxidation, increases abundance	1
bisphenol A	affects cotreatment, increases methylation	1
sodium arsenite	increases abundance, increases expression	1
benzo(e)pyrene	increases methylation	1
aflatoxin B2	increases methylation	1
methacrylaldehyde	increases oxidation, increases abundance, affects cotreatment	1
ICG 001	decreases expression	1
Rosiglitazone	increases expression	1
Sunitinib	increases expression	1
Fulvestrant	affects cotreatment, increases methylation	1
Acrolein	affects cotreatment, increases oxidation, increases abundance	1
Air Pollutants	affects cotreatment, increases abundance, increases oxidation	1
Ethanol	affects cotreatment, increases abundance, increases expression	1
Arsenic	increases abundance, increases expression	1
Atrazine	increases expression	1
Benzo(a)pyrene	affects methylation	1
Caffeine	decreases phosphorylation	1
Cocaine	decreases expression	1
Doxorubicin	affects expression	1
Gasoline	affects cotreatment, increases abundance, increases expression	1
Methapyrilene	increases methylation	1
Ozone	affects cotreatment, increases oxidation, increases abundance	1
Polycyclic Aromatic Hydrocarbons	affects cotreatment, increases abundance, increases expression	1
Ribonucleotides	affects binding	1
Rotenone	decreases expression	1
Selenium	affects cotreatment, decreases expression, increases expression	1
Smoke	decreases expression	1
Vitamin E	affects cotreatment, decreases expression, increases expression	1

ChEMBL screening assays

7 unique, capped per target: 7 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL5697114	Binding	Inhibition of DDX41 (unknown origin) assessed as fold change at 10 uM incubated for 1 hr by colloidal coomassie staining based LC-MS/MS analysis	Inhibition of BET recruitment to chromatin as an effective treatment for MLL-fusion leukaemia. — Nature

Cellosaurus cell lines

2 cell lines: 2 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_SK67	HAP1 DDX41 (-) 1	Cancer cell line	Male
CVCL_SK68	HAP1 DDX41 (-) 2	Cancer cell line	Male

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00003398	PHASE4	COMPLETED	Bone Marrow Transplantation in Treating Patients With Hematologic Cancer
NCT00117507	PHASE4	COMPLETED	Study for the Treatment of Transfusional Iron Overload in Myelodysplastic Patients
NCT00202371	PHASE4	WITHDRAWN	Transfusion Effects in Myelodysplastic Patients: Limiting Exposure
NCT00361140	PHASE4	COMPLETED	Busulfan Safety/Efficacy as Conditioning Prior to Hematopoietic Cell Transplantation (HCT)
NCT00452660	PHASE4	COMPLETED	Evaluation the Effect of Exjade on Oxidative Stress in Low Risk Myelodysplastic Syndrome Patients With Iron Over Load
NCT00481143	PHASE4	COMPLETED	Efficacy and Safety of Deferasirox in Patients With Myelodysplastic Syndrome and Transfusion-dependent Iron Overload
NCT00487448	PHASE4	COMPLETED	SMD_FLAG-IDA_98: FLAG-IDA in Induction Treatment of High Risk Myelodysplastic Syndromes or Secondary Acute Myeloblastic Leukemia
NCT00488436	PHASE4	COMPLETED	Antithymocyte Globulin and Cyclosporine in Treating Low Risk Patients With Myelodysplastic Syndrome
NCT00564941	PHASE4	COMPLETED	Evaluating the Efficacy of Deferasirox in Transfusion Dependent Chronic Anaemias (Myelodysplastic Syndrome, Beta-thalassaemia Patients) With Chronic Iron Overload
NCT00673608	PHASE4	COMPLETED	Magnetic Resonance Imaging (MRI) Assessments of the Heart and Liver Iron Load in Patients With Transfusion Induced Iron Overload
NCT01011283	PHASE4	TERMINATED	To Demonstrate Superiority of Decitabine Over Azacitidine in Subjects With Intermediate- or High-risk MDS.
NCT01200355	PHASE4	COMPLETED	Posaconazole Versus Micafungin for Prophylaxis Against Invasive Fungal Infections During Neutropenia in Patients Undergoing Chemotherapy for Acute Myelogenous Leukemia, Acute Lymphocytic Leukemia or Myelodysplastic Syndrome
NCT01201811	PHASE4	COMPLETED	Study of Azacitidine in Adult Taiwanese Subjects With Higher-Risk Myelodysplastic Syndromes (MDS)
NCT01250951	PHASE4	COMPLETED	This Study Will Evaluate Efficacy and Safety of Deferasirox in Patients With Myelodysplastic Syndromes (MDS), Thalassemia and Rare Anemia Types Having Transfusion-induced Iron Overload.
NCT01326845	PHASE4	TERMINATED	Myelodysplastic Syndrome (MDS) Gastrointestinal (GI) Tolerability Study
NCT01339988	PHASE4	UNKNOWN	Busulfan and Cyclophosphamide Instead of Total Boby Irradiation (TBI) and Cyclophosphamide for Hematological Malignancies Hematocrit (HCT)
NCT02013102	PHASE4	UNKNOWN	A Phase Ⅳ Study of Decitabine in Myelodysplastic Syndrome
NCT02145026	PHASE4	COMPLETED	A Study of Epoetin Beta Treatment in Anemic Participants With Myelodysplastic Syndrome (MDS)
NCT02875743	PHASE4	COMPLETED	King’s Invasive Aspergillosis Study II
NCT03176849	PHASE4	COMPLETED	A Randomized Phase IV Control Trial of Single High Dose Oral Vitamin D3 in Pediatric Patients Undergoing HSCT
NCT03335943	PHASE4	UNKNOWN	Myelodysplastic Syndrome–CDA-2 Hematological Improvement National Affirmation Study
NCT03598582	PHASE4	COMPLETED	Biological Predictive Factors of Response to ESA in Low Risk MDS Patients
NCT06004765	PHASE4	UNKNOWN	Efficacy and Safety of Lenalidomide Combined With Azacitidine vs Azacitidine in the Treatment of MDS-RS
NCT06006949	PHASE4	UNKNOWN	Roxadustat Combined With Luspatercept Versus Luspatercept Monotherapy in the Treatment of Refractory MDS-RS
NCT00000591	PHASE3	COMPLETED	T-Cell Depletion in Unrelated Donor Marrow Transplantation
NCT00002517	PHASE3	COMPLETED	Combination Chemotherapy in Treating Children With Newly Diagnosed Acute Myeloid Leukemia or Myelodysplastic Syndrome
NCT00002742	PHASE3	COMPLETED	Antifungal Therapy for Fever and Neutropenia in Patients Receiving Treatment for Hematologic Cancer
NCT00002798	PHASE3	COMPLETED	Combination Chemotherapy With or Without Bone Marrow Transplantation in Treating Children With Acute Myelogenous Leukemia or Myelodysplastic Syndrome
NCT00002926	PHASE3	UNKNOWN	Combination Chemotherapy With or Without Peripheral Stem Cell Transplantation in Treating Patients With Myelodysplastic Syndrome or Acute Myelogenous Leukemia
NCT00002989	PHASE3	UNKNOWN	Combination Chemotherapy With or Without Idarubicin and Peripheral Stem Cell Transplantation in Treating Patients With Leukemia or Myelodysplastic Syndrome
NCT00003138	PHASE3	COMPLETED	Erythropoietin (EPO)+/- Filgrastim (G-CSF) vs. Supportive Therapy Alone for Patients With Myelodysplastic Syndromes
NCT00003436	PHASE3	COMPLETED	Combination Chemotherapy With or Without Bone Marrow Transplantation in Treating Children With Acute Myeloid Leukemia
NCT00003593	PHASE3	COMPLETED	Chemotherapy in Treating Children With Down Syndrome and Myeloproliferative Disorder, Acute Myelogenous Leukemia, or Myelodysplastic Syndrome
NCT00003602	PHASE3	UNKNOWN	Combination Chemotherapy in Treating Older Patients With Acute Myeloid Leukemia
NCT00003687	PHASE3	COMPLETED	Treatment for Chronic Pain in Patients With Advanced Cancer
NCT00003805	PHASE3	COMPLETED	Prevention of Infection in Patients With Hematologic Cancer and Persistent Fever Caused by a Low White Blood Cell Count
NCT00004208	PHASE3	COMPLETED	Antithymocyte Globulin and Cyclosporine in Treating Patients With Myelodysplastic Syndrome
NCT00005805	PHASE3	COMPLETED	St. John’s Wort in Relieving Fatigue in Patients Undergoing Chemotherapy or Hormone Therapy for Cancer
NCT00005823	PHASE3	COMPLETED	Intensive Compared With Nonintensive Chemotherapy in Treating Older Patients With Acute Myeloid Leukemia or Myelodysplastic Syndrome
NCT00005863	PHASE3	COMPLETED	Combination Chemotherapy With or Without Filgrastim and/or Tretinoin in Treating Patients With Acute Myeloid Leukemia