NUP214

Summary

NUP214 (nucleoporin 214, HGNC:8064) is a protein-coding gene on chromosome 9q34.13, encoding Nuclear pore complex protein Nup214 (P35658). Part of the nuclear pore complex. It is a common-essential gene (DepMap: required in 99.4% of cancer cell lines).

The nuclear pore complex is a massive structure that extends across the nuclear envelope, forming a gateway that regulates the flow of macromolecules between the nucleus and the cytoplasm. Nucleoporins are the main components of the nuclear pore complex in eukaryotic cells. This gene is a member of the FG-repeat-containing nucleoporins. The protein encoded by this gene is localized to the cytoplasmic face of the nuclear pore complex where it is required for proper cell cycle progression and nucleocytoplasmic transport. The 3’ portion of this gene forms a fusion gene with the DEK gene on chromosome 6 in a t(6,9) translocation associated with acute myeloid leukemia and myelodysplastic syndrome. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms.

Source: NCBI Gene 8021 — RefSeq curated summary.

At a glance

• Gene–disease (curated): encephalopathy, acute, infection-induced, susceptibility to, 9 (Strong, GenCC)
• GWAS associations: 1
• Clinical variants (ClinVar): 475 total — 2 pathogenic, 6 likely-pathogenic
• Phenotypes (HPO): 39
• Cancer driver (intOGen): activating (oncogene-like) across 2 cancer types
• Cancer dependency (DepMap): dependent in 99.4% of screened cell lines (common-essential)
• MANE Select transcript: NM_005085

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:8064
Approved symbol	NUP214
Name	nucleoporin 214
Location	9q34.13
Locus type	gene with protein product
Status	Approved
Aliases	CAIN, CAN, D9S46E, N214
Ensembl gene	ENSG00000126883
Ensembl biotype	protein_coding
OMIM	114350
Entrez	8021

Gene structure

Transcript identifiers

Ensembl transcripts: 54 — 27 protein_coding, 13 retained_intron, 9 protein_coding_CDS_not_defined, 5 nonsense_mediated_decay

ENST00000359428, ENST00000411637, ENST00000453861, ENST00000465486, ENST00000470765, ENST00000476004, ENST00000483497, ENST00000489260, ENST00000496921, ENST00000498010, ENST00000524578, ENST00000525384, ENST00000525561, ENST00000525980, ENST00000526346, ENST00000526412, ENST00000528114, ENST00000528406, ENST00000529286, ENST00000530491, ENST00000530630, ENST00000530843, ENST00000530863, ENST00000531584, ENST00000531600, ENST00000531929, ENST00000650694, ENST00000651022, ENST00000651334, ENST00000651639, ENST00000652454, ENST00000695493, ENST00000695494, ENST00000695495, ENST00000695496, ENST00000695497, ENST00000695498, ENST00000695499, ENST00000695500, ENST00000695501, ENST00000897205, ENST00000897206, ENST00000897207, ENST00000897208, ENST00000897209, ENST00000897210, ENST00000922158, ENST00000922159, ENST00000922160, ENST00000922161, ENST00000922162, ENST00000922163, ENST00000922164, ENST00000922165

RefSeq mRNA: 3 — MANE Select: NM_005085 NM_001318324, NM_001318325, NM_005085

CCDS: CCDS6940, CCDS83429, CCDS83430

Canonical transcript exons

ENST00000359428 — 36 exons

Exon	Start	End
ENSE00000868186	131144280	131144754
ENSE00000984241	131146129	131146304
ENSE00001621435	131147490	131147584
ENSE00003459993	131187289	131187364
ENSE00003474296	131164061	131164144
ENSE00003535108	131162991	131163173
ENSE00003541404	131150324	131150410
ENSE00003556290	131192208	131192292
ENSE00003571654	131195233	131195294
ENSE00003572886	131163870	131163955
ENSE00003584978	131189053	131189131
ENSE00003586686	131159383	131159486
ENSE00003623729	131175460	131175621
ENSE00003624572	131150616	131150765
ENSE00003647269	131151736	131151894
ENSE00003650187	131178311	131178410
ENSE00003686584	131174055	131174318
ENSE00003964007	131197216	131199015
ENSE00003964008	131130766	131130836
ENSE00003964009	131140549	131140710
ENSE00003964010	131233454	131234663
ENSE00003964011	131127524	131127719
ENSE00003964012	131215212	131215368
ENSE00003964016	131132596	131132659
ENSE00003964017	131139281	131139407
ENSE00003964020	131201647	131201717
ENSE00003964021	131133106	131133209
ENSE00003964025	131135940	131136006
ENSE00003964027	131230630	131230769
ENSE00003964031	131125586	131125749
ENSE00003964032	131232284	131232308
ENSE00003964035	131134898	131135004
ENSE00003964036	131222778	131222930
ENSE00003964037	131128332	131128483
ENSE00003964038	131129279	131129477
ENSE00003964039	131228160	131228331

Expression profiles

Bgee: expression breadth ubiquitous, 246 present calls, max score 98.03.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 44.1370 / max 637.1169, expressed in 1819 samples.

FANTOM5 promoters (22 alternative TSS)

Promoter ID	TPM avg	Samples expressed
99062	36.1701	1817
99090	4.2743	337
99082	0.8674	329
99087	0.7091	219
99084	0.5573	252
99063	0.4977	220
99088	0.3656	158
99066	0.1443	41
99068	0.1127	34
99067	0.0990	29

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
left testis	UBERON:0004533	98.03	gold quality
right testis	UBERON:0004534	97.91	gold quality
monocyte	CL:0000576	97.56	gold quality
granulocyte	CL:0000094	97.41	gold quality
leukocyte	CL:0000738	97.34	gold quality
mononuclear cell	CL:0000842	97.27	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	97.22	gold quality
colonic epithelium	UBERON:0000397	97.14	gold quality
testis	UBERON:0000473	96.70	gold quality
blood	UBERON:0000178	96.63	gold quality
bone marrow cell	CL:0002092	95.15	gold quality
lower esophagus mucosa	UBERON:0035834	95.05	gold quality
sural nerve	UBERON:0015488	94.55	gold quality
metanephros cortex	UBERON:0010533	94.42	gold quality
spleen	UBERON:0002106	94.11	gold quality
ventricular zone	UBERON:0003053	94.02	gold quality
bone marrow	UBERON:0002371	92.85	gold quality
ganglionic eminence	UBERON:0004023	92.72	gold quality
periodontal ligament	UBERON:0008266	92.59	gold quality
apex of heart	UBERON:0002098	92.21	gold quality
tendon of biceps brachii	UBERON:0008188	91.49	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	91.30	gold quality
skin of leg	UBERON:0001511	91.19	gold quality
cortical plate	UBERON:0005343	91.09	gold quality
mucosa of transverse colon	UBERON:0004991	90.81	gold quality
sperm	CL:0000019	90.74	gold quality
right uterine tube	UBERON:0001302	90.58	gold quality
skin of abdomen	UBERON:0001416	90.33	gold quality
right lobe of thyroid gland	UBERON:0001119	90.29	gold quality
body of pancreas	UBERON:0001150	90.29	gold quality

Single-cell (SCXA)

Detected in 5 experiment(s), a significant marker in 3.

Experiment	Marker?	Max mean expression
E-MTAB-6701	yes	29.23
E-CURD-112	yes	23.62
E-ANND-3	yes	5.94
E-CURD-135	no	603.65
E-GEOD-109979	no	352.48

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): AR, JUN, NFATC1, NFATC4, NFIC, TFAP2A, TP53

miRNA regulators (miRDB)

52 targeting NUP214, 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-6772-5P	99.94	67.01	577
HSA-MIR-10395-5P	99.86	67.35	676
HSA-MIR-4728-5P	99.85	69.39	4718
HSA-MIR-548AR-3P	99.85	71.26	3889
HSA-MIR-6785-5P	99.82	68.68	4428
HSA-MIR-4495	99.82	72.08	3080
HSA-MIR-548AZ-3P	99.82	70.56	3549
HSA-MIR-548BC	99.82	70.61	3524
HSA-MIR-548E-3P	99.82	70.59	3514
HSA-MIR-548F-3P	99.82	70.59	3540
HSA-MIR-3133	99.81	70.92	3506
HSA-MIR-548A-3P	99.76	70.58	3524
HSA-MIR-6764-5P	99.75	67.89	2304
HSA-MIR-149-3P	99.72	68.22	3963
HSA-MIR-6883-5P	99.69	68.05	3785
HSA-MIR-29B-2-5P	99.67	68.98	1726
HSA-MIR-6762-3P	99.66	66.94	1188
HSA-MIR-1915-3P	99.58	66.79	1988
HSA-MIR-6727-3P	99.49	65.92	1333
HSA-MIR-217-5P	99.49	69.93	1419
HSA-MIR-6740-3P	99.48	68.49	1392
HSA-MIR-20A-3P	99.44	69.10	1575
HSA-MIR-4722-3P	99.35	65.22	1099
HSA-MIR-520F-5P	99.34	70.40	1632
HSA-MIR-3692-5P	99.29	67.04	1421
HSA-MIR-3064-5P	99.26	66.13	1497
HSA-MIR-3085-3P	99.26	66.16	1490
HSA-MIR-6504-5P	99.26	65.95	1487
HSA-MIR-7974	99.24	65.48	1137
HSA-MIR-196A-3P	99.19	67.34	1204

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 99.4% of screened cell lines, common-essential.

Literature-anchored findings (GeneRIF, showing 40)

• Smad2 nucleocytoplasmic shuttling by nucleoporins CAN/Nup214 and Nup153 feeds TGFbeta signaling complexes in the cytoplasm and nucleus. (PMID:12191473)
• A surface hydrophobic corridor within the MH2 domain of Smad3 is critical for association with CAN/Nup214 and nuclear import, whereas Smad4 interaction with CAN/Nup214, and nuclear import requires structural elements present only in the full-length Smad4 (PMID:12917407)
• leukemia SET-CAN fusion protein inhibited proliferation of U937 cells, most likely by interfering with hCRM1, but it also partially blocks differentiation (PMID:14671643)
• Nup214 has a role in regulating TTP localization (PMID:14766228)
• NUP214-ABL1 expression defines a new subgroup of individuals with T-ALL (PMID:15361874)
• Nup214 domain-specific localization by immunoelectron microscopy. Transport studies show that the spatial distribution of the FG-repeat domains of both Nup153 and Nup214 shifts in a transport-dependent manner. (PMID:16045929)
• the Nup214-Nup88 nucleoporin subcomplex is required for CRM1-mediated 60 S preribosomal nuclear export (PMID:16675447)
• The Nup214/Nup88 complex is required for efficient CRM1-mediated transport, supporting a model involving a high-affinity binding site for CRM1 at Nup214 in the terminal steps of export. (PMID:16943420)
• A mechanism is proposed by which the C-terminal peptide extension is involved in nuclear pore complex assembly. (PMID:17264208)
• TAF-Ialpha/CAN and TAF-Ibeta/CAN fusion transcripts are generated by chromosome 9q34 deletion in acute myeloid leukemia (PMID:17296573)
• Impairment of erythroid and megakaryocytic differentiation by a leukemia-associated and t(9;9)-derived product, SET/TAF-IBeta-CAN/Nup214. (PMID:17620317)
• Set/TAF-Ibeta acts as a ligand-activated GR-responsive transcriptional repressor, while Set-Can does not retain physiologic responsiveness to ligand-bound glucocorticoid receptor. (PMID:18096310)
• SET-NUP214 binds in the promoter regions of specific HOXA genes, where it interacts with CRM1 and DOT1L, which may transcriptionally activate specific members of the HOXA cluster. (PMID:18299449)
• NUP214-ABL1 fusion is unique because of its requisite localization to the nuclear pore complex for its transforming potential. (PMID:18614052)
• a thorough biochemical comparative analysis of NUP214-ABL1 and BCR-ABL1 show that, despite their common tyrosine kinase domain, the two fusion proteins differ in many critical catalytic properties (PMID:18784740)
• FISH revealed a heterogeneous pattern of NUP214-ABL1 amplification. NUP214-ABL1 gene requires amplification for oncogenicity; it is part of a multistep process of leukemogenesis; and it can be a late event present only in subpopulations (PMID:18923437)
• Cell lines LOUCY and MEGAL express the recently described SET-NUP214 fusion gene. (PMID:19166587)
• Using in vitro assays, the authors demonstrate that NUP214 decreases both the RNA binding and ATPase activities of DBP5. (PMID:19219046)
• These results indicate that CAN/Nup214 interacts with VDR and modulates its function as a transcription factor. (PMID:19229862)
• CAN/Nup214 is a nuclear receptor for the herpesvirus capsid. (PMID:19386703)
• Oxidative stress up-regulated the binding of Crm1 to Ran and affected multiple repeat-containing nucleoporins by changing their localization, phosphorylation, O-glycosylation, or interaction with other transport components. (PMID:19828735)
• NUP214-ABL1 positive T-cell acute lymphoblastic leukemia patient shows an initial favorable response to imatinib therapy post relapse (PMID:21489623)
• Used MALDI-TOF MS 40-plex assay for testing 40 loci within 21 high-ranking breast cancer CAN-genes. No mutation could be found in 6 cell lines. A single breast cancer tissue sample showed heterozygosity at locus c.5834G>A within the ZFYVE26 gene. (PMID:21691751)
• Data describe the relatively high incidence of SET-NUP214 rearrangement in adult T-ALLs, and demonstrate comprehensive clinical, phenotypic, and genetic characteristics of this entity. (PMID:21720744)
• Nucleoporin p62 (NUP62) and nucleoporin 214 (NUP214) are differentially distributed between nuclear pore complexes. (PMID:22558357)
• Several phenylalanine-glycine motives in the nucleoporin Nup214 are essential for binding of the nuclear export receptor CRM1. (PMID:23264634)
• The expression of endogenous Nup214 is significantly down-regulated by the reverse inserted lentiviral promoter (PMID:23831628)
• NUP214-ABL1-mediated cell proliferation in T-cell acute lymphoblastic leukemia is dependent on the LCK kinase and various interacting proteins. (PMID:23872305)
• the expression of the fusion gene DEK-NUP214 leads to increased cellular proliferation. We show that this is dependent on upregulation of the signal transduction protein mTOR with subsequent effects on protein synthesis and glucose metabolism. (PMID:24073922)
• t(6;9)/DEK-NUP214 represents a unique subtype of acute myeloid leukemia with a high risk of relapse. (PMID:24441146)
• When compared with SET-NUP214-negative patients, SET-NUP214-positive patients showed a significantly higher rate of corticosteroid resistance (91% vs 44%; P = .003) and chemotherapy resistance (100% vs 44%; P = .0001). (PMID:24449214)
• Both in vitro hexon binding and in vivo nuclear import of the adenovirus genome were strongly reduced in Nup214-depleted cells suggesting that Nup214 is a major binding site of adenovirus during infection. (PMID:25410864)
• We have identified NUP214, a member of the massive nuclear pore complex, as a novel miR-133b target. (PMID:25743594)
• SQSTM1-Nup214, although mostly cytoplasmic, also forms nuclear bodies and inhibits nuclear protein but not poly(A)(+) RNA export. (PMID:27613868)
• RNA-sequencing proved to be a valuable tool for the detection of a fusion of genes DEK and NUP214 in a leukemia that showed cryptic cytogenetic rearrangement of chromosome band 9q34. (PMID:29109093)
• 19 patients with neurodevelopmental disorders harboring a rare deletion inherited from a healthy parent were investigated by whole-exome sequencing to search for SNV on the contralateral segment. This strategy allowed us to identify a candidate variant in two patients in the NUP214 and NCOR1 genes. (PMID:29483668)
• oncogenic kinase NUP214-ABL1, through its downstream effector STAT5, directly cooperates with TLX1 at the transcriptional level. (PMID:30107177)
• we propose that while NUP214 complete deficiency may be lethal in humans, partial deficiency results in a novel autosomal recessive disorder characterized by severe encephalopathy and early death. (PMID:30758658)
• Pathogenic Variants in NUP214 Cause “Plugged” Nuclear Pore Channels and Acute Febrile Encephalopathy. (PMID:31178128)
• Loss of Nup214 inhibited nuclear export of recombination signal-binding protein for immunoglobulin kappaJ region (RBP-J), the DNA-binding component of the Notch pathway. NUP214 fusion proteins, causative for certain cases of T-cell acute lymphatic leukemia, potentially contribute to tumorigenesis via a Notch-dependent mechanism. (PMID:31186352)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
mus_musculus	Nup214	ENSMUSG00000001855
rattus_norvegicus	Nup214	ENSRNOG00000023393
drosophila_melanogaster	Nup153	FBGN0061200

Paralogs (6): NUP153 (ENSG00000124789), POM121L2 (ENSG00000158553), NPAP1 (ENSG00000185823), POM121 (ENSG00000196313), POM121L12 (ENSG00000221900), POM121C (ENSG00000272391)

Protein

Protein identifiers

Nuclear pore complex protein Nup214 — P35658 (reviewed: P35658)

Alternative names: 214 kDa nucleoporin, Nucleoporin Nup214, Protein CAN

All UniProt accessions (17): P35658, A0A494BZU9, A0A494C0J0, A0A494C0Y1, A0A494C104, A0A494C1F2, A0A8Q3SHZ4, A0A8Q3WLX1, B7ZAV2, E9PKD2, E9PS86, H0Y837, H0YDH2, H0YDI2, H0YDS4, H0YED3, H0YF36

UniProt curated annotations — full annotation on UniProt →

Function. Part of the nuclear pore complex. Has a critical role in nucleocytoplasmic transport. May serve as a docking site in the receptor-mediated import of substrates across the nuclear pore complex. (Microbial infection) Required for capsid disassembly of the human adenovirus 5 (HadV-5) leading to release of the viral genome to the nucleus (in vitro).

Subunit / interactions. Homodimer. Part of the nuclear pore complex (NPC). Interacts with NUP88. Interacts with ZFP36; this interaction increases upon lipopolysaccharide (LPS) stimulation. Interacts with DDX19. Interacts with XPO1. Interacts with XPO5. (Microbial infection) Interacts with human herpes virus 1 (HHV-1) protein UL25; this interaction might be essential to the capsid docking onto the host nuclear pore. (Microbial infection) Interacts (via N-terminus) with human adenovirus 5 (HAdV-5) protein L3 (hexon); this interaction might be essential for the release of the virus genome to the nucleus.

Subcellular location. Nucleus. Nuclear pore complex.

Tissue specificity. Expressed in thymus, spleen, bone marrow, kidney, brain and testis, but hardly in all other tissues or in whole embryos during development.

Post-translational modifications. Probably glycosylated as it reacts with wheat germ agglutinin (WGA).

Disease relevance. A chromosomal aberration involving NUP214 is found in a subset of acute myeloid leukemia (AML); also known as acute non-lymphocytic leukemia. Translocation t(6;9)(p23;q34) with DEK. It results in the formation of a DEK-CAN fusion gene. A chromosomal aberration involving NUP214 is found in some cases of acute undifferentiated leukemia (AUL). Translocation t(6;9)(q21;q34.1) with SET. Encephalopathy, acute, infection-induced, 9 (IIAE9) [MIM:618426] An autosomal recessive disorder characterized by infancy-onset of episodic neurodevelopmental regression in association with infection-induced febrile illness. Clinical features include poor overall growth, seizures, myoclonic jerks, microcephaly, ataxia, and cerebellar atrophy. Disease susceptibility is associated with variants affecting the gene represented in this entry. Chromosomal aberrations involving NUP214 are found in acute lymphoblastic leukemia. Translocation t(9;9)(q34;q34) with ABL1. Translocation t(5;9)(q35;q34) with SQSTM1.

Domain organisation. Contains FG repeats. FG repeats are interaction sites for karyopherins (importins, exportins) and form probably an affinity gradient, guiding the transport proteins unidirectionally with their cargo through the NPC. FG repeat regions are highly flexible and lack ordered secondary structure. The overall conservation of FG repeats regarding exact sequence, spacing, and repeat unit length is limited. The beta-propeller contains long interblade connector loops, and mediates interaction with DDX19B.

Isoforms (5)

UniProt ID	Names	Canonical?
P35658-1	1	yes
P35658-2	2
P35658-3	3
P35658-4	4
P35658-5	5

RefSeq proteins (3): NP_001305253, NP_001305254, NP_005076* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001680	WD40_rpt	Repeat
IPR015943	WD40/YVTN_repeat-like_dom_sf	Homologous_superfamily
IPR026054	Nucleoporin	Family
IPR039462	Nup159/Nup146_N	Domain
IPR041553	Nup214_FG	Domain

Pfam: PF16755, PF18617

UniProt features (199 total): repeat 51, strand 38, modified residue 32, region of interest 19, compositionally biased region 19, sequence variant 8, helix 8, site 7, splice variant 4, sequence conflict 4, turn 3, mutagenesis site 2, initiator methionine 1, chain 1, cross-link 1, coiled-coil region 1

Structure

Experimental structures (PDB)

7 structures.

PDB	Method	Resolution (Å)
2OIT	X-RAY DIFFRACTION	1.65
3FMO	X-RAY DIFFRACTION	2.51
3FHC	X-RAY DIFFRACTION	2.8
5DIS	X-RAY DIFFRACTION	2.85
3FMP	X-RAY DIFFRACTION	3.19
7R5K	ELECTRON MICROSCOPY	12
7R5J	ELECTRON MICROSCOPY	50

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P35658-F1	50.85	0.18

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 (7): 444–445 (breakpoint for translocation to form the nup214-abl1 fusion protein); 812–813 (breakpoint); 1840–1841 (breakpoint for translocation to form the nup214-abl1 fusion protein); 1916–1917 (breakpoint for translocation to form the nup214-abl1 fusion protein); 1967–1968 (breakpoint for translocation to form the nup214-abl1 fusion protein); 1967–1968 (breakpoint for translocation to form the nup214-sqstm1 fusion protein); 2071–2072 (breakpoint for translocation to form the nup214-abl1 fusion protein)

Post-translational modifications (33): 30, 416, 421, 430, 433, 434, 437, 439, 651, 657, 666, 670, 678, 760, 940, 970, 974, 989, 1021, 1023 …

Mutagenesis-validated functional residues (2):

Position	Phenotype
353	reduced binding to ddx19b.
359	impairs interaction with ddx19b.

Function

Pathways and Gene Ontology

Reactome pathways

32 pathways

ID	Pathway
R-HSA-1169408	ISG15 antiviral mechanism
R-HSA-159227	Transport of the SLBP independent Mature mRNA
R-HSA-159230	Transport of the SLBP Dependant Mature mRNA
R-HSA-159231	Transport of Mature mRNA Derived from an Intronless Transcript
R-HSA-159236	Transport of Mature mRNA derived from an Intron-Containing Transcript
R-HSA-165054	Rev-mediated nuclear export of HIV RNA
R-HSA-168271	Transport of Ribonucleoproteins into the Host Nucleus
R-HSA-168276	NS1 Mediated Effects on Host Pathways
R-HSA-168325	Viral Messenger RNA Synthesis
R-HSA-168333	NEP/NS2 Interacts with the Cellular Export Machinery
R-HSA-170822	Regulation of Glucokinase by Glucokinase Regulatory Protein
R-HSA-180746	Nuclear import of Rev protein
R-HSA-180910	Vpr-mediated nuclear import of PICs
R-HSA-1855170	IPs transport between nucleus and cytosol
R-HSA-1855196	IP3 and IP4 transport between cytosol and nucleus
R-HSA-1855229	IP6 and IP7 transport between cytosol and nucleus
R-HSA-191859	snRNP Assembly
R-HSA-3108214	SUMOylation of DNA damage response and repair proteins
R-HSA-3232142	SUMOylation of ubiquitinylation proteins
R-HSA-3301854	Nuclear Pore Complex (NPC) Disassembly
R-HSA-3371453	Regulation of HSF1-mediated heat shock response
R-HSA-4085377	SUMOylation of SUMOylation proteins
R-HSA-450520	HuR (ELAVL1) binds and stabilizes mRNA
R-HSA-4551638	SUMOylation of chromatin organization proteins
R-HSA-4570464	SUMOylation of RNA binding proteins
R-HSA-4615885	SUMOylation of DNA replication proteins
R-HSA-5619107	Defective TPR may confer susceptibility towards thyroid papillary carcinoma (TPC)
R-HSA-6784531	tRNA processing in the nucleus
R-HSA-9609690	HCMV Early Events
R-HSA-9610379	HCMV Late Events

MSigDB gene sets: 316 (showing top): REACTOME_INTERACTIONS_OF_VPR_WITH_HOST_CELLULAR_PROTEINS, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, REACTOME_CYTOKINE_SIGNALING_IN_IMMUNE_SYSTEM, REACTOME_VIRAL_MESSENGER_RNA_SYNTHESIS, THEILGAARD_NEUTROPHIL_AT_SKIN_WOUND_DN, PID_NFAT_3PATHWAY, CREBP1_Q2, GOBP_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_ORGANELLE, CREB_Q4, GOBP_NUCLEAR_TRANSPORT, REACTOME_HIV_INFECTION, GOBP_REGULATION_OF_NUCLEOCYTOPLASMIC_TRANSPORT, BLALOCK_ALZHEIMERS_DISEASE_UP, GOBP_REGULATION_OF_CELLULAR_LOCALIZATION, REACTOME_PROCESSING_OF_CAPPED_INTRON_CONTAINING_PRE_MRNA

GO Biological Process (10): RNA export from nucleus (GO:0006405), mRNA export from nucleus (GO:0006406), protein import into nucleus (GO:0006606), protein export from nucleus (GO:0006611), nucleocytoplasmic transport (GO:0006913), regulation of nucleocytoplasmic transport (GO:0046822), regulation of cell cycle (GO:0051726), intracellular protein transport (GO:0006886), protein transport (GO:0015031), mRNA transport (GO:0051028)

GO Molecular Function (4): nuclear export signal receptor activity (GO:0005049), nuclear localization sequence binding (GO:0008139), structural constituent of nuclear pore (GO:0017056), protein binding (GO:0005515)

GO Cellular Component (6): nuclear envelope (GO:0005635), nuclear pore (GO:0005643), nucleoplasm (GO:0005654), cytosol (GO:0005829), cytoplasmic side of nuclear pore (GO:1990876), nucleus (GO:0005634)

Reactome top-level categories

Rollup of top-14 pathways:

Category	Pathways
Transport of Mature mRNAs Derived from Intronless Transcripts	3
Inositol phosphate metabolism	3
Interactions of Rev with host cellular proteins	2
Influenza Infection	2
SUMO E3 ligases SUMOylate target proteins	2
Antimicrobial mechanism of IFN-stimulated genes	1
Transport of Mature Transcript to Cytoplasm	1
Late Phase of HIV Life Cycle	1
Influenza Viral RNA Transcription and Replication	1
Export of Viral Ribonucleoproteins from Nucleus	1
Glycolysis	1
Interactions of Vpr with host cellular proteins	1
Metabolism of non-coding RNA	1
Nuclear Envelope Breakdown	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
nuclear export	3
cellular anatomical structure	3
RNA transport	2
intracellular protein transport	2
nucleocytoplasmic transport	2
intracellular protein localization	2
nuclear pore	2
RNA export from nucleus	1
gene expression	1
mRNA transport	1
protein localization to nucleus	1
import into nucleus	1
establishment of protein localization to organelle	1
nuclear transport	1
regulation of intracellular transport	1
cell cycle	1
regulation of cellular process	1
protein transport	1
intracellular transport	1
transport	1
establishment of protein localization	1
nucleocytoplasmic carrier activity	1
signal sequence receptor activity	1
structural molecule activity	1
binding	1
nucleus	1
endomembrane system	1
organelle envelope	1
nuclear envelope	1
nuclear protein-containing complex	1
nuclear lumen	1
cytoplasm	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

2464 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
NUP214	NUP88	Q99567	998
NUP214	RANBP2	P49792	997
NUP214	RGPD1	P0C839	996
NUP214	XPO1	O14980	991
NUP214	NUP62	P37198	991
NUP214	DEK	P35659	928
NUP214	GLE1	Q53GS7	924
NUP214	NUP107	P57740	919
NUP214	NUP133	Q8WUM0	918
NUP214	ABL1	P00519	906
NUP214	NXF1	Q9UBU9	903
NUP214	NXT1	Q9UKK6	870
NUP214	TLX1	P31314	855
NUP214	NUP54	Q7Z3B4	852
NUP214	TLX3	O43711	848

IntAct

132 interactions, top by confidence:

A	B	Type	Score
DDX19A	MIF4GD	psi-mi:“MI:0914”(association)	0.860
NXF1	NUP214	psi-mi:“MI:0914”(association)	0.810
NUP214	NXF1	psi-mi:“MI:0407”(direct interaction)	0.810
NUP214	NUP88	psi-mi:“MI:0915”(physical association)	0.740
NUP88	NUP214	psi-mi:“MI:0914”(association)	0.740
rep	GTF2F2	psi-mi:“MI:0914”(association)	0.730
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
RAN	RGPD8	psi-mi:“MI:0914”(association)	0.640
KPNB1	POM121C	psi-mi:“MI:0914”(association)	0.530
RAN	NEMP2	psi-mi:“MI:0914”(association)	0.530
NUP62	RGPD8	psi-mi:“MI:0914”(association)	0.530
NXF1	CASC3	psi-mi:“MI:0914”(association)	0.530
G3BP2	NUP214	psi-mi:“MI:0914”(association)	0.530
EMILIN1	METTL15	psi-mi:“MI:0914”(association)	0.530
NUP88	XPO1	psi-mi:“MI:0914”(association)	0.530
CLEC11A	VWA8	psi-mi:“MI:0914”(association)	0.530
DDX21	MED19	psi-mi:“MI:2364”(proximity)	0.480
TSG101	NUP214	psi-mi:“MI:0407”(direct interaction)	0.440
Nup214	OGT	psi-mi:“MI:0915”(physical association)	0.400
Plk1		psi-mi:“MI:0915”(physical association)	0.400
NUP214	PA	psi-mi:“MI:0915”(physical association)	0.370
NS	NUP214	psi-mi:“MI:0915”(physical association)	0.370
NUP214	NS2	psi-mi:“MI:0915”(physical association)	0.370
NUP214	NS	psi-mi:“MI:0915”(physical association)	0.370

BioGRID (311): NUP214 (Affinity Capture-MS), NUP214 (Affinity Capture-MS), NUP214 (Reconstituted Complex), NUP214 (Affinity Capture-MS), NUP214 (Affinity Capture-MS), NUP214 (Affinity Capture-MS), NUP214 (Affinity Capture-MS), NUP214 (Affinity Capture-MS), CFL1 (Co-fractionation), CSRP1 (Co-fractionation), DYNC1LI1 (Co-fractionation), NUP62 (Co-fractionation), NUP88 (Co-fractionation), TRIM28 (Co-fractionation), TXNDC9 (Co-fractionation)

ESM2 similar proteins: A0JN62, A2RT67, A2RUS2, B1H2P5, D4ACE5, F1MDL2, F1QEB7, H2LP95, O15259, O75161, P35658, P59240, Q059U7, Q28CB1, Q28DG8, Q28DH9, Q29RL0, Q3TLI0, Q4AC94, Q4VX76, Q52KB6, Q5SPC5, Q68CZ1, Q6DDI6, Q6DDX8, Q6DEY8, Q6NXY1, Q7TSG1, Q86UW7, Q8BYR5, Q8CG73, Q8IY22, Q8IZC4, Q8K1X1, Q8N392, Q8N5R6, Q8N960, Q8TDW5, Q96DN5, Q96KN7

Diamond homologs: P35658, Q80U93

SIGNOR signaling

4 interactions.

A	Effect	B	Mechanism
NUP214	up-regulates	SMAD3	binding
NUP214	up-regulates	SMAD4	binding
NUP214	“up-regulates activity”	SMAD3/SMAD4	relocalization
NUP214	“form complex”	NPC	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 162 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
Rev-mediated nuclear export of HIV RNA	7	21.8×	2e-05
NEP/NS2 Interacts with the Cellular Export Machinery	6	20.4×	1e-04
Nuclear import of Rev protein	6	19.8×	1e-04
Transport of Ribonucleoproteins into the Host Nucleus	5	17.5×	1e-03
Transport of the SLBP independent Mature mRNA	5	16.0×	1e-03
Transport of the SLBP Dependant Mature mRNA	5	15.6×	1e-03
Nuclear Pore Complex (NPC) Disassembly	5	15.1×	1e-03
NS1 Mediated Effects on Host Pathways	5	14.0×	2e-03

GO biological processes:

GO term	Partners	Fold	FDR
poly(A)+ mRNA export from nucleus	5	25.0×	5e-04
mRNA export from nucleus	7	15.3×	3e-04
nucleocytoplasmic transport	5	14.5×	4e-03
mRNA transport	7	13.7×	4e-04
protein import into nucleus	7	7.5×	5e-03
protein phosphorylation	10	5.0×	4e-03

Disease & clinical

Cancer significance

From intOGen — cancer-driver classification: activating (oncogene-like) across 2 cancer types — PRCC, SIC.

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	2
Likely pathogenic	6
Uncertain significance	344
Likely benign	49
Benign	12

Top pathogenic / likely-pathogenic (8)

Variant ID	HGVS	Classification
3375131	NM_005085.4(NUP214):c.1926dup (p.Val643fs)	Pathogenic
3375390	NM_005085.4(NUP214):c.2939_2943dup (p.Asp982fs)	Pathogenic
1711883	NM_005085.4(NUP214):c.5773_5774del (p.Ser1925fs)	Likely pathogenic
2500761	NM_005085.4(NUP214):c.929T>C (p.Ile310Thr)	Likely pathogenic
2504015	NM_005085.4(NUP214):c.4828G>T (p.Glu1610Ter)	Likely pathogenic
4075505	NM_005085.4(NUP214):c.5472del (p.Ala1825fs)	Likely pathogenic
431698	NM_005085.4(NUP214):c.5521+10del	Likely pathogenic
634924	NM_005085.4(NUP214):c.1159C>T (p.Pro387Ser)	Likely pathogenic

SpliceAI

5246 predictions. Top by Δscore:

Variant	Effect	Δscore
9:131125745:TGAAG:T	donor_loss	1.0000
9:131125747:AAG:A	donor_loss	1.0000
9:131125748:AGG:A	donor_loss	1.0000
9:131125749:GGTCA:G	donor_loss	1.0000
9:131125750:GTCAG:G	donor_loss	1.0000
9:131125751:T:G	donor_loss	1.0000
9:131127508:T:A	acceptor_gain	1.0000
9:131127517:A:AG	acceptor_gain	1.0000
9:131127518:C:G	acceptor_gain	1.0000
9:131127519:AACAG:A	acceptor_gain	1.0000
9:131127520:A:G	acceptor_gain	1.0000
9:131127522:A:AG	acceptor_gain	1.0000
9:131127522:AG:A	acceptor_gain	1.0000
9:131127523:G:GA	acceptor_gain	1.0000
9:131127523:GG:G	acceptor_gain	1.0000
9:131127523:GGA:G	acceptor_gain	1.0000
9:131127523:GGAT:G	acceptor_gain	1.0000
9:131127523:GGATT:G	acceptor_gain	1.0000
9:131127715:AATAG:A	donor_gain	1.0000
9:131127716:ATAG:A	donor_gain	1.0000
9:131127717:TAG:T	donor_gain	1.0000
9:131127717:TAGG:T	donor_loss	1.0000
9:131127718:AG:A	donor_gain	1.0000
9:131127718:AGGT:A	donor_loss	1.0000
9:131127719:GG:G	donor_gain	1.0000
9:131127719:GGT:G	donor_loss	1.0000
9:131127720:G:GG	donor_gain	1.0000
9:131128329:T:G	acceptor_gain	1.0000
9:131128330:A:AG	acceptor_gain	1.0000
9:131128330:AGTT:A	acceptor_gain	1.0000

AlphaMissense

13393 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
9:131130771:T:A	W200R	1.000
9:131130771:T:C	W200R	1.000
9:131133120:T:A	W248R	1.000
9:131133120:T:C	W248R	1.000
9:131129354:T:A	W157R	0.999
9:131129354:T:C	W157R	0.999
9:131130774:A:C	S201R	0.999
9:131130776:C:A	S201R	0.999
9:131130776:C:G	S201R	0.999
9:131130793:T:C	L207P	0.999
9:131150626:T:C	F713S	0.999
9:131159441:T:C	L832P	0.999
9:131128391:A:C	S101R	0.998
9:131128393:C:A	S101R	0.998
9:131128393:C:G	S101R	0.998
9:131129415:T:C	L177P	0.998
9:131130773:G:C	W200C	0.998
9:131130773:G:T	W200C	0.998
9:131130786:A:G	K205E	0.998
9:131133122:G:C	W248C	0.998
9:131133122:G:T	W248C	0.998
9:131139287:T:A	W338R	0.998
9:131139287:T:C	W338R	0.998
9:131139296:T:A	W341R	0.998
9:131139296:T:C	W341R	0.998
9:131139308:G:C	D345H	0.998
9:131139318:G:C	R348P	0.998
9:131139321:C:A	A349D	0.998
9:131140582:T:C	L389P	0.998
9:131159396:T:C	L817P	0.998

dbSNP variants (sampled 300 via entrez): RS1000016750 (9:131149335 A>G), RS1000043717 (9:131167150 C>T), RS1000080294 (9:131149601 C>T), RS1000097042 (9:131234589 T>A), RS1000117692 (9:131152613 G>T), RS1000135291 (9:131192082 A>G), RS1000139212 (9:131147335 C>T), RS1000168620 (9:131147689 A>G), RS1000227375 (9:131231353 G>A), RS1000234885 (9:131143000 T>C), RS1000237409 (9:131184929 T>G), RS1000268667 (9:131198179 C>T), RS1000289686 (9:131185276 C>A), RS1000333457 (9:131202471 T>C), RS1000340312 (9:131205212 C>A)

Disease associations

OMIM: gene MIM:114350 | disease phenotypes: MIM:618426, MIM:601626

GenCC curated gene-disease

Disease	Classification	Inheritance
encephalopathy, acute, infection-induced, susceptibility to, 9	Strong	Autosomal recessive

Mondo (3): encephalopathy, acute, infection-induced, susceptibility to, 9 (MONDO:0032742), acute myeloid leukemia (MONDO:0018874), acute lymphoblastic leukemia (MONDO:0004967)

Orphanet (2): Acute myeloid leukemia (Orphanet:519), Acute lymphoblastic leukemia (Orphanet:513)

HPO phenotypes

39 total (30 of 39 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000007	Autosomal recessive inheritance
HP:0000252	Microcephaly
HP:0000961	Cyanosis
HP:0001250	Seizure
HP:0001251	Ataxia
HP:0001252	Hypotonia
HP:0001257	Spasticity
HP:0001263	Global developmental delay
HP:0001272	Cerebellar atrophy
HP:0001276	Hypertonia
HP:0001290	Generalized hypotonia
HP:0001336	Myoclonus
HP:0001347	Hyperreflexia
HP:0001442	Typified by somatic mosaicism
HP:0001508	Failure to thrive
HP:0001522	Death in infancy
HP:0002013	Vomiting
HP:0002020	Gastroesophageal reflux
HP:0002033	Poor suck
HP:0002059	Cerebral atrophy
HP:0002069	Bilateral tonic-clonic seizure
HP:0002098	Respiratory distress
HP:0002104	Apnea
HP:0002283	Global brain atrophy
HP:0002376	Developmental regression
HP:0002643	Neonatal respiratory distress
HP:0002783	Recurrent lower respiratory tract infections
HP:0002900	Hypokalemia
HP:0002902	Hyponatremia

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST008174_4	Aspartate aminotransferase levels	5.000000e-06

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004736	aspartate aminotransferase measurement

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D015470	Leukemia, Myeloid, Acute	C04.557.337.539.275; C15.378.508.539.275

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation	2
Nickel	increases expression	2
Cadmium Chloride	decreases expression, increases abundance	2
FR900359	affects phosphorylation	1
TAK-243	decreases sumoylation	1
dicrotophos	increases expression	1
triphenyl phosphate	affects expression	1
alpha-pinene	affects cotreatment, increases expression, increases abundance	1
pirinixic acid	affects binding, increases activity, increases expression	1
bisphenol A	decreases expression	1
deoxynivalenol	increases expression	1
coumarin	increases phosphorylation	1
methacrylaldehyde	increases expression, increases abundance, affects cotreatment	1
2,3,5-(triglutathion-S-yl)hydroquinone	decreases ADP-ribosylation	1
nutlin 3	affects cotreatment, increases secretion	1
gardiquimod	decreases expression, decreases reaction	1
NSC 689534	affects binding, decreases expression	1
Lycopene	decreases expression	1
Acetaminophen	increases expression	1
Acrolein	affects cotreatment, increases expression, increases abundance	1
Air Pollutants	increases abundance, increases expression, affects cotreatment	1
Cadmium	decreases expression, increases abundance	1
Caffeine	affects phosphorylation	1
Cannabidiol	affects cotreatment, increases expression	1
Carbamazepine	affects expression	1
Copper	decreases expression, affects binding	1
Cuprizone	affects cotreatment, increases expression	1
Dactinomycin	affects cotreatment, increases secretion	1
Doxorubicin	decreases expression	1
Enzyme Inhibitors	decreases activity, increases O-linked glycosylation	1

Cellosaurus cell lines

8 cell lines: 8 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_1081	BE-13	Cancer cell line	Female
CVCL_1380	Loucy	Cancer cell line	Female
CVCL_1805	ALL-SIL	Cancer cell line	Male
CVCL_1833	MEGAL	Cancer cell line	Female
CVCL_1913	Peer	Cancer cell line	Female
CVCL_2041	FKH-1	Cancer cell line	Male
CVCL_2771	TALL-104	Cancer cell line	Male
CVCL_E8UC	ICLU-T	Cancer cell line	Female

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00199147	PHASE4	UNKNOWN	Efficacy of G-CSF-Priming in Elderly AML Patients
NCT00304447	PHASE4	COMPLETED	Study Evaluating the Effect of Corticosteroids on Mylotarg® Infusion-Related Adverse Events in Patients With Leukemia
NCT00464217	PHASE4	COMPLETED	Treatment of the Acute Myeloblastic Leukaemia in Patients Over 65 Years
NCT00487448	PHASE4	COMPLETED	SMD_FLAG-IDA_98: FLAG-IDA in Induction Treatment of High Risk Myelodysplastic Syndromes or Secondary Acute Myeloblastic Leukemia
NCT00488709	PHASE4	COMPLETED	Fludarabine, Cytarabine, Topotecan in Treating Patients With Relapsed or Refractory Acute Myeloid Leukemia
NCT00686543	PHASE4	COMPLETED	Oral Posaconazole in High Risk Patients With Gastrointestinal Dysfunction (Study P05115)
NCT01041040	PHASE4	COMPLETED	LAM07: Study to Analyze the Efficacy of a Risk Adapted Treatment Strategy, Including Gemtuzumab Ozogamicin (GO) During Consolidation, for Patients With Acute Myeloid Leukemia (AML)
NCT01198054	PHASE4	TERMINATED	LENA-LMA-5:Lenalidomide in Acute Myeloid Leukemia (AML)
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
NCT01347996	PHASE4	COMPLETED	Maintenance Therapy With Ceplene® (Histamine) and IL-2 on Immune Response and MRD in Acute Myeloid Leukemia
NCT01587430	PHASE4	UNKNOWN	3 Anthracyclines, 2 Types of Consolidation With Different ARA-C Doses and Maintenance in Adult Acute Myeloid Leukemia
NCT01819792	PHASE4	COMPLETED	Respiratory Viral Infections During Acute Myeloid Leukemia (AML)Chemotherapy Related Aplasia
NCT02024308	PHASE4	UNKNOWN	AML1-ETO Acute Myeloid Leukemia With Fludarabine and Cytarabine Chemotherapy
NCT02027064	PHASE4	UNKNOWN	Interferon for the Intervention of Molecular Relapse in t (8; 21) AML After Allo-HSCT
NCT02277847	PHASE4	UNKNOWN	Idarubicin at Different Dosages as Induction Therapy for Newly Diagnosed Acute Myeloid Leukaemia
NCT02386800	PHASE4	ACTIVE_NOT_RECRUITING	CINC424A2X01B Rollover Protocol
NCT02926586	PHASE4	COMPLETED	Fludarabine and Cytarabine Versus High-dose Cytarabine for CBF-AML
NCT02933333	PHASE4	UNKNOWN	G-CSF Alone or Combination With GM-CSF on Prevention and Treatment of Infection in Children With Malignant Tumor
NCT03026842	PHASE4	UNKNOWN	Decitabine Versus Conventional Chemotherapy for Maintenance Therapy of Acute Myeloid Leukemia With t(8;21)
NCT03150134	PHASE4	UNKNOWN	Early Tapering of Immunosuppressive Agents to Immunomodulation to Improve Survival of AML Patients
NCT05144243	PHASE4	ACTIVE_NOT_RECRUITING	Study to Assess Adverse Events and Change in Disease State of Oral Venetoclax in Combination With Subcutaneous (SC) Azacitidine in Newly Diagnosed Adult Participants With Acute Myeloid Leukemia (AML) Who Are Ineligible for Intensive Chemotherapy in China
NCT06370000	PHASE4	RECRUITING	Oral Azacitidine in Transplant-Eligible Patients With Acute Myeloid Leukemia (AML) Suffering From Health-Inequality
NCT06571825	PHASE4	RECRUITING	RIC Allo-HSCT vs. Venetoclax-Based Consolidation in Elderly AML Patients After First CR
NCT07016165	PHASE4	RECRUITING	Ciprofloxacin vs Ceftazidime for Empirical Treatment of High-Risk Neutropenic Fever in Children With Hematologic Malignancies
NCT07044687	PHASE4	RECRUITING	Study to Assess Adverse Events and Change in Disease Activity of Oral Venetoclax in Combination With Subcutaneous (SC) or Intravenous (IV) Azacitidine in Newly Diagnosed Adult Participants With Acute Myeloid Leukemia (AML) Who Are Ineligible for Standard Induction Therapy in India
NCT07486713	PHASE4	RECRUITING	Olutasidenib DDI Study in Patients With IDH1 Mutation Positive Malignancies
NCT07561892	PHASE4	RECRUITING	Study of the Effectiveness and Safety of Daunorubicin /Idarubicin ± Silibinin in Treating Newly Diagnosed AML (Non-M3).
NCT00000589	PHASE3	COMPLETED	Trial to Reduce Alloimmunization to Platelets (TRAP)
NCT00044486	PHASE3	COMPLETED	Prophylaxis Trial of Posaconazole Versus Standard Azole Therapy for Neutropenic Patients (Study P01899)
NCT00093990	PHASE3	COMPLETED	Tipifarnib Versus Best Supportive Care in the Treatment of Newly Diagnosed Acute Myeloid Leukemia (AML)
NCT00125606	PHASE3	TERMINATED	Phase 3 Trial for AML Patients in CR2 Comparing 8Gy TBI /Fludarabine to Conditioning With TBI 12Gy/Cyclophosphamide
NCT00136084	PHASE3	COMPLETED	Treatment of Patients With Newly Diagnosed Acute Myeloid Leukemia or Myelodysplasia
NCT00146120	PHASE3	COMPLETED	Risk-Adapted Therapy of Acute Myeloid Leukemia of Adults (18-60 Years) According to the Cytogenetic Result
NCT00150878	PHASE3	TERMINATED	Standard vs. Reduced-Intensity Conditioning in Patients With Acute Myeloid Leukemia in First Remission
NCT00151255	PHASE3	COMPLETED	All-Trans Retinoic Acid in Combination With Standard Induction and Consolidation Therapy in Older Patients With Newly Diagnosed Acute Myeloid Leukemia
NCT00152139	PHASE3	COMPLETED	Stem Cell Transplantation for Patients With Hematologic Malignancies
NCT00152594	PHASE3	TERMINATED	Voriconazole or Placebo in the Prophylaxis of Lung Infiltrates in Patients Undergoing Induction Chemotherapy for Acute Myelogenous Leukemia
NCT00186966	PHASE3	COMPLETED	Treatment of Children and Adolescents With Refractory or Relapsed Acute Myeloid Leukemia
NCT00226512	PHASE3	WITHDRAWN	To Determine the Role of Adding Campath-1H or ATG Given In-vivo in Addition to Fludarabine and Low Dose Busulfex on Outcome in Patients Treated With Reduced Intensity Conditioning
NCT00260832	PHASE3	COMPLETED	Trial of Decitabine in Patients With Acute Myeloid Leukemia