NUP98

Summary

NUP98 (nucleoporin 98 and 96 precursor, HGNC:8068) is a protein-coding gene on chromosome 11p15.4, encoding Nuclear pore complex protein Nup98-Nup96 (P52948). Plays a role in the nuclear pore complex (NPC) assembly and/or maintenance. It is a common-essential gene (DepMap: required in 91.5% of cancer cell lines).

Nuclear pore complexes (NPCs) regulate the transport of macromolecules between the nucleus and cytoplasm, and are composed of many polypeptide subunits, many of which belong to the nucleoporin family. This gene belongs to the nucleoporin gene family and encodes a 186 kDa precursor protein that undergoes autoproteolytic cleavage to generate a 98 kDa nucleoporin and 96 kDa nucleoporin. The 98 kDa nucleoporin contains a Gly-Leu-Phe-Gly (GLGF) repeat domain and participates in many cellular processes, including nuclear import, nuclear export, mitotic progression, and regulation of gene expression. The 96 kDa nucleoporin is a scaffold component of the NPC. Proteolytic cleavage is important for targeting of the proteins to the NPC. Translocations between this gene and many other partner genes have been observed in different leukemias. Rearrangements typically result in chimeras with the N-terminal GLGF domain of this gene to the C-terminus of the partner gene. Alternative splicing results in multiple transcript variants encoding different isoforms, at least two of which are proteolytically processed. Some variants lack the region that encodes the 96 kDa nucleoporin.

Source: NCBI Gene 4928 — RefSeq curated summary.

At a glance

• GWAS associations: 4
• Clinical variants (ClinVar): 275 total — 1 likely-pathogenic
• Cancer driver (intOGen): activating (oncogene-like) across 1 cancer types
• Cancer dependency (DepMap): dependent in 91.5% of screened cell lines (common-essential)
• MANE Select transcript: NM_016320

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:8068
Approved symbol	NUP98
Name	nucleoporin 98 and 96 precursor
Location	11p15.4
Locus type	gene with protein product
Status	Approved
Aliases	NUP96, Nup98-Nup96, Nup98-96, NUP196
Ensembl gene	ENSG00000110713
Ensembl biotype	protein_coding
OMIM	601021
Entrez	4928

Gene structure

Transcript identifiers

Ensembl transcripts: 57 — 41 protein_coding, 7 retained_intron, 6 nonsense_mediated_decay, 3 protein_coding_CDS_not_defined

ENST00000324932, ENST00000355260, ENST00000359171, ENST00000397004, ENST00000397007, ENST00000397013, ENST00000429801, ENST00000461047, ENST00000469881, ENST00000482690, ENST00000483285, ENST00000488828, ENST00000524563, ENST00000527104, ENST00000529063, ENST00000529379, ENST00000530345, ENST00000530516, ENST00000532475, ENST00000533346, ENST00000650171, ENST00000700595, ENST00000700596, ENST00000700597, ENST00000700598, ENST00000700599, ENST00000700600, ENST00000700601, ENST00000700602, ENST00000700603, ENST00000700604, ENST00000700605, ENST00000700606, ENST00000700607, ENST00000700608, ENST00000700609, ENST00000851289, ENST00000851290, ENST00000915299, ENST00000915300, ENST00000915301, ENST00000915302, ENST00000915303, ENST00000915304, ENST00000915305, ENST00000915306, ENST00000915307, ENST00000915308, ENST00000915309, ENST00000915310, ENST00000915311, ENST00000915312, ENST00000915313, ENST00000915314, ENST00000943236, ENST00000943237, ENST00000943238

RefSeq mRNA: 9 — MANE Select: NM_016320 NM_001365125, NM_001365126, NM_001365127, NM_001365128, NM_001365129, NM_005387, NM_016320, NM_139131, NM_139132

CCDS: CCDS31347, CCDS41605, CCDS41606, CCDS7746, CCDS91412, CCDS91413, CCDS91414, CCDS91415

Canonical transcript exons

ENST00000324932 — 33 exons

Exon	Start	End
ENSE00000891053	3773632	3773739
ENSE00000891055	3771748	3771928
ENSE00000891059	3762902	3763039
ENSE00000988546	3706445	3706627
ENSE00001057846	3723157	3723455
ENSE00001057851	3713818	3713995
ENSE00001057852	3691347	3691489
ENSE00001057857	3712564	3712728
ENSE00001057869	3720712	3720825
ENSE00001057874	3731391	3731578
ENSE00001057877	3719412	3719550
ENSE00001057882	3775882	3776021
ENSE00001057884	3695449	3695606
ENSE00001112039	3768581	3768744
ENSE00001120869	3685973	3686194
ENSE00001266627	3760539	3760626
ENSE00001266760	3778873	3779049
ENSE00001266763	3779156	3779257
ENSE00001266800	3700610	3700839
ENSE00001266845	3693232	3693375
ENSE00001266871	3705200	3705356
ENSE00001317452	3679554	3679708
ENSE00001331927	3782042	3782145
ENSE00001350501	3702463	3702892
ENSE00001693374	3675019	3676376
ENSE00003497057	3753316	3753408
ENSE00003508202	3699082	3699348
ENSE00003601981	3683200	3683441
ENSE00003607528	3744509	3744649
ENSE00003609527	3735191	3735324
ENSE00003732707	3676509	3676620
ENSE00003784227	3725103	3725219
ENSE00003846905	3797400	3797554

Expression profiles

Bgee: expression breadth ubiquitous, 284 present calls, max score 98.33.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 58.9639 / max 1146.9328, expressed in 1824 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
118313	57.2011	1824
206167	0.4717	213
118303	0.3953	173
118314	0.3726	96
206166	0.3081	95
206165	0.2151	85

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
left testis	UBERON:0004533	98.33	gold quality
right testis	UBERON:0004534	98.31	gold quality
colonic epithelium	UBERON:0000397	97.23	gold quality
testis	UBERON:0000473	96.60	gold quality
secondary oocyte	CL:0000655	95.63	gold quality
oocyte	CL:0000023	95.62	gold quality
adrenal tissue	UBERON:0018303	94.27	gold quality
ventricular zone	UBERON:0003053	94.21	gold quality
left ovary	UBERON:0002119	94.20	gold quality
hindlimb stylopod muscle	UBERON:0004252	94.20	gold quality
calcaneal tendon	UBERON:0003701	94.17	gold quality
left uterine tube	UBERON:0001303	93.96	gold quality
upper lobe of left lung	UBERON:0008952	93.88	gold quality
islet of Langerhans	UBERON:0000006	93.81	gold quality
right ovary	UBERON:0002118	93.80	gold quality
gastrocnemius	UBERON:0001388	93.69	gold quality
right lung	UBERON:0002167	93.60	gold quality
sperm	CL:0000019	93.48	gold quality
ectocervix	UBERON:0012249	93.46	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	93.40	gold quality
stromal cell of endometrium	CL:0002255	93.38	gold quality
muscle of leg	UBERON:0001383	93.38	gold quality
right lobe of thyroid gland	UBERON:0001119	93.35	gold quality
lower esophagus mucosa	UBERON:0035834	93.31	gold quality
skin of leg	UBERON:0001511	93.18	gold quality
endocervix	UBERON:0000458	93.17	gold quality
left lobe of thyroid gland	UBERON:0001120	93.11	gold quality
male germ cell	CL:0000015	92.97	gold quality
bone marrow cell	CL:0002092	92.95	gold quality
adenohypophysis	UBERON:0002196	92.87	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	13.67

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

90 targeting NUP98, 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-5011-5P	100.00	83.46	5820
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-23B-5P	99.98	66.07	587
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-3658	99.96	73.87	4379
HSA-MIR-3605-5P	99.96	67.12	932
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-141-3P	99.94	72.79	2421
HSA-MIR-200A-3P	99.94	72.68	2420
HSA-MIR-548J-3P	99.94	72.61	4881
HSA-MIR-23A-5P	99.94	65.39	468
HSA-MIR-548AE-3P	99.93	72.66	4867
HSA-MIR-548AH-3P	99.93	72.54	4872
HSA-MIR-548AM-3P	99.93	72.54	4872
HSA-MIR-548AQ-3P	99.93	72.66	4867
HSA-MIR-153-5P	99.89	73.86	6317
HSA-MIR-345-3P	99.89	70.23	1421
HSA-MIR-9902	99.89	69.15	2250
HSA-MIR-548D-3P	99.87	70.67	4362
HSA-MIR-548BB-3P	99.86	70.58	4354
HSA-MIR-4728-5P	99.85	69.39	4718
HSA-MIR-548AC	99.84	70.77	4351
HSA-MIR-548H-3P	99.84	70.80	4349
HSA-MIR-548Z	99.84	70.80	4349
HSA-MIR-4739	99.84	65.25	1832
HSA-MIR-1321	99.84	65.30	1811
HSA-MIR-4756-5P	99.84	64.98	1809
HSA-MIR-6785-5P	99.82	68.68	4428

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 91.5% of screened cell lines, common-essential.

Literature-anchored findings (GeneRIF, showing 40)

• The HOXD11 gene is fused to the NUP98 gene in acute myeloid leukemia with t(2;11)(q31;p15). (PMID:11782354)
• increased Nup98 and Nup96 expression constitutes an IFN-mediated mechanism that reverses M protein-mediated inhibition of gene expression (PMID:11809937)
• the fusion gene NUP98-HOXA9 is an important gene in myeloid leukemogenesis. (PMID:11830496)
• Nup98 aids in direction of RNAs to the nuclear pore and provide the first potential mechanism for the role of a mobile nucleoporin. (PMID:11950939)
• Nup98-HoxA9 immortalizes myeloid progenitors, enforces expression of Hoxa9, Hoxa7 and Meis1, and alters cytokine-specific responses in a manner similar to that induced by retroviral co-expression of Hoxa9 and Meis1. (PMID:12082612)
• The chromosome translocation t(7;11)(p15;p15) in acute myeloid leukemia results in fusion of the NUP98 gene with cluster gene HOXA13. (PMID:12112533)
• The NUP98/HOXA9 FUSION transcript was detected by PC at exon A and not exon B of NUP98. (PMID:12138901)
• The three-dimensional structure of the autoproteolytic, nuclear pore-targeting domain of the human nucleoporin Nup98. (PMID:12191480)
• Nup98 interacts with both faces of the nuclear pore, a localization in keeping with its previously described nucleocytoplasmic shuttling activity (PMID:12589057)
• fused with NSD1 and frequently transcribed in childhool AML (PMID:12931227)
• Major form of NUP98/HOXC11 fusion in adult acute myeloid leukemia with t(11;12)(p15;q13) translocation exhibits aberrant trans-regulatory activity (PMID:12970787)
• Sec13 stably interacts with Nup96 at the NPC during interphase and the shuttling of Sec13 between the nucleus and the cytoplasm may couple and regulate functions between these two compartments (PMID:14517296)
• Specific and potent interactor of the HIV-1 Rev nuclear export signal. This suggests a physiological role for hNup98 in modulating Rev-dependent RNA export during HIV infection (PMID:14554087)
• Nup98-HOXA9 has a role in inducing gene transcription in myeloid cells (PMID:14561764)
• Nup153 and Nup98 have distinct domains to mediate transcription-dependent mobility (PMID:14718558)
• Data report novel nucleoporin 98 fusions with homeobox (HOX)A10, HOXB3 and HOXB4, and describe the results of coexpression of these proteins with the Hox cofactor Meis1 in leukemic induction. (PMID:14966272)
• Nup98 on the nuclear pore complex specifically participates in the nuclear entry of HIV-1 cDNA following HIV-1 entry. (PMID:15207818)
• Review. The newly identified NUP98 gene, located on chromosome 11p15.5, has been observed fused to 15 different partners. It encodes a 98 kD component of the nuclear pore complex, which mediates nucleo-cytoplasmic transport of protein and RNA. (PMID:15359631)
• Dnalc4, Fcgr2b, Fcrl, and Con1 genes cooperated with NUP98-HOXA9 in transforming NIH 3T3 cells. (PMID:15454493)
• CYBB is a common target gene repressed by HoxA10 and activated by HoxA9, and Meis1 and Nup98-hoxA9 have roles in repressing myeloid-specific gene transcription (PMID:15681849)
• A novel fusion of the NUP98 and LEDGF genes in a pediatric case of acute myeloid leukemia. (PMID:15725483)
• NUP98 has a role in hematopoietic malignancies with 11p15 aberrations (PMID:15951287)
• Caspases target only Nup93 and Nup96 within the core structure of the nuclear pore complex (PMID:16286466)
• synergism between NUP98-HOX and wt-Flt3 is the result of the ability of Flt3 to increase proliferation of myeloid progenitors blocked in differentiation by NUP98-HOX fusions and, revealing a direct role for wt-Flt3 in the pathobiology of AML. (PMID:16861351)
• The t(7;11)(p15;p15) translocation, observed in acute myelogenous leukemia and myelodysplastic syndrome, generates a chimeric gene where the 5’ portion of the sequence encoding the human nucleoporin NUP98 protein is fused to the 3’ region of HOXA9. (PMID:17178874)
• NUP98 is dysregulated in myeloid leukemogenesis [review] (PMID:17442773)
• study shows that NUP98-NSD1 induces acute myeloid leukemia in vivo, sustains self-renewal of myeloid stem cells in vitro, and enforces expression of the HoxA7, HoxA9, HoxA10 and Meis1 proto-oncogenes (PMID:17589499)
• The antitumor activity of deguelin was related to up-regulating the expression of Nup98 and down-regulating Nup88 protein. (PMID:17650673)
• Targeting of interferon-inducible NPC proteins, such as Nup98, may be an additional weapon in the arsenal of poliovirus and perhaps other picornaviruses to overcome host defense mechanisms. (PMID:18045934)
• A new fusion gene NUP98-IQCG identified in an acute T-lymphoid/myeloid leukemia with a t(3;11)(q29q13;p15)del(3)(q29) translocation (PMID:18084320)
• High-resolution crystal structures reveal that three highly conserved residues, Tyr866, Gly867, and Leu868, provide most of the interactions between the autoproteolytic domain and the C-terminal tail of Nup98. (PMID:18287282)
• translocation involving nucleoporin 98 (NUP98) fused to the DNA-binding domain of the hematopoietically expressed homeobox gene found in acute myeloid leukemia (PMID:18388181)
• transgenic mice expressing NUP98-HOXD13 (NHD13) fusion gene develop myelodysplastic syndrome, and more than half eventually progress to acute leukemia (PMID:18566322)
• Novel evidence of the contributory role of the NUP98 sequence in conferring leukemogenic properties on a partner gene. (PMID:18604245)
• Nup96 levels regulate differential gene expression in a phase-specific manner, setting the stage for proper cell cycle progression. (PMID:19000832)
• To our knowledge, this is the first case of t(11;12)(p15;q13) in de novo AML-M4 in association with FLT3 ITD mutation. Coexistence of NUP98-HOXC13 fusion and FLT3 ITD mutation is likely relevant in the process of leukemogenesis (PMID:19665070)
• effects of NUP98-HOXA9 on gene transcription and cell transformation are mediated by two distinct mechanisms: promoter binding through homeodomain with direct transcriptional activation, and another depending on NUP98 moiety not involving DNA binding (PMID:19696924)
• These results are consistent with a specific proteolysis of Nup98 by 2A protease to prevent de novo mRNA traffic in poliovirus-infected cells. (PMID:19789179)
• 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)
• Findings suggest new possibilities for misregulation by which Nup98 translocations may contribute to cellular transformation and leukemogenesis. (PMID:20237156)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	nup98	ENSDARG00000074955
mus_musculus	Nup98	ENSMUSG00000063550
rattus_norvegicus	Nup98	ENSRNOG00000020347
drosophila_melanogaster	Nup98-96	FBGN0039120
caenorhabditis_elegans		WBGENE00003796

Protein

Protein identifiers

Nuclear pore complex protein Nup98-Nup96 — P52948 (reviewed: P52948)

All UniProt accessions (20): P52948, A0A3B3ITD8, A0A8V8TPW9, A0A8V8TPX4, A0A8V8TPX8, A0A8V8TQF7, A0A8V8TQG1, A0A8V8TQG5, A0A8V8TR21, A0A8V8TR23, A0A8V8TRC7, A0A8V8TRD0, E9PNN0, H0YCR0, H0YCT1, H0YDA1, H0YDF4, H0YEN4, H7BYP8, H7C3P6

UniProt curated annotations — full annotation on UniProt →

Function. Plays a role in the nuclear pore complex (NPC) assembly and/or maintenance. NUP98 and NUP96 are involved in the bidirectional transport across the NPC. May anchor NUP153 and TPR to the NPC. In cooperation with DHX9, plays a role in transcription and alternative splicing activation of a subset of genes. Involved in the localization of DHX9 in discrete intranuclear foci (GLFG-body). (Microbial infection) Interacts with HIV-1 capsid protein P24 and nucleocapsid protein P7 and may thereby promote the integration of the virus in the host nucleus (in vitro). Binding affinity to HIV-1 CA-NC complexes bearing the capsid change Asn-74-Asp is reduced (in vitro).

Subunit / interactions. Part of the nuclear pore complex (NPC). Interacts directly with NUP96. Part of the Nup160 subcomplex in the nuclear pore which is composed of NUP160, NUP133, NUP107 and NUP96; this complex plays a role in RNA export and in tethering NUP98 and NUP153 to the nucleus. Interacts with RAE1. Does not interact with TPR. Interacts with NUP88. Interacts directly with NUP88 and NUP214, subunits of the cytoplasmic filaments of the NPC. Interacts (via N-terminus) with DHX9 (via DRBM, OB-fold and RGG domains); this interaction occurs in a RNA-dependent manner and stimulates DHX9-mediated ATPase activity. (Microbial infection) Interacts with HIV-1 capsid protein P24 and nucleocapsid protein P7 (in vitro); the interaction may promote the integration of the virus in the host nucleus (in vitro). (Microbial infection) Interacts with vesicular stomatitis virus protein M. (Microbial infection) Interacts with SARS coronavirus-2/SARS-CoV-2 ORF6 protein; the interaction blocks STAT1 nuclear translocation, antagonizes interferon signaling and blocks mRNA nuclear export (ex vivo). (Microbial infection) Interacts with SARS coronavirus/SARS-CoV ORF6 protein.

Subcellular location. Nucleus membrane. Nucleus. Nuclear pore complex. Nucleoplasm Nucleus membrane.

Post-translational modifications. Isoform 1 to isoform 4 are autoproteolytically cleaved to yield Nup98 and Nup96 or Nup98 only, respectively. Cleaved Nup98 is necessary for the targeting of Nup98 to the nuclear pore and the interaction with Nup96. Proteolytically degraded after poliovirus (PV) infection; degradation is partial and NCP- and TPR-binding domains withstand degradation.

Disease relevance. Chromosomal aberrations involving NUP98 have been found in acute myeloid leukemia. Translocation t(7;11)(p15;p15) with HOXA9. The chimera includes NUP98 intrinsic disordered regions which contribute to aberrant liquid-liquid phase separation puncta of the chimera in the nucleus. This phase-separation enhances the chimera genomic targeting and induces organization of aberrant three-dimensional chromatin structures leading to tumorous transformation. Translocation t(11;17)(p15;p13) with PHF23. A chromosomal aberration involving NUP98 has been found in M0 type acute myeloid leukemia. Translocation t(4;11)(q23;p15) with RAP1GDS1. A chromosomal aberration involving NUP98 has been found in T-cell acute lymphocytic leukemia. Translocation t(4;11)(q23;p15) with RAP1GDS1. A chromosomal aberration involving NUP98 has been found in M5 type acute myeloid leukemia. Translocation t(11;12)(p15;p13) with KDM5A. Chromosomal aberrations involving NUP98 have been found in childhood acute myeloid leukemia. Translocation t(5;11)(q35;p15.5) with NSD1. Translocation t(8;11)(p11.2;p15) with WHSC1L1. Chromosomal aberrations involving NUP98 have been found in M7 type childhood acute myeloid leukemia. Translocation t(11;12)(p15;p13) with KDM5A. A chromosomal aberration involving NUP98 is found in a form of therapy-related myelodysplastic syndrome. Translocation t(11;20)(p15;q11) with TOP1. A chromosomal aberration involving NUP98 is found in a form of T-cell acute lymphoblastic leukemia (T-ALL). Translocation t(3;11)(q12.2;p15.4) with LNP1. A chromosomal aberration involving NUP98 is associated with pediatric acute myeloid leukemia (AML) with intermediate characteristics between M2-M3 French-American-British (FAB) subtypes. Translocation t(9;11)(p22;p15) with PSIP1/LEDGF. The chimeric transcript is an in-frame fusion of NUP98 exon 8 to PSIP1/LEDGF exon 4. A chromosomal aberration involving NUP98 has been identified in acute leukemias. Translocation t(6;11)(q24.1;p15.5) with CCDC28A. The chimeric transcript is an in-frame fusion of NUP98 exon 13 to CCDC28A exon 2. Ectopic expression of NUP98-CCDC28A in mouse promotes the proliferative capacity and self-renewal potential of hematopoietic progenitors and rapidly induced fatal myeloproliferative neoplasms and defects in the differentiation of the erythro-megakaryocytic lineage.

Domain organisation. Contains G-L-F-G repeats. The FG repeat domains in Nup98 have a direct role in the transport.

Similarity. Belongs to the nucleoporin GLFG family.

Isoforms (6)

UniProt ID	Names	Canonical?
P52948-1	1, Nup98-Nup96 precursor	yes
P52948-2	2, Nup98-Nup96 precursor splice variant 1
P52948-3	3, Nup98-specific 1
P52948-4	4
P52948-5	5, Nup196, ADIR2
P52948-6	6

RefSeq proteins (9): NP_001352054, NP_001352055, NP_001352056, NP_001352057, NP_001352058, NP_005378, NP_057404, NP_624357, NP_624358 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR007230	Nup98_auto-Pept-S59_dom	Domain
IPR021967	Nup98_C	Domain
IPR036903	Nup98_auto-Pept-S59_dom_sf	Homologous_superfamily
IPR037665	Nucleoporin_S59-like	Family

Pfam: PF04096, PF12110, PF21240

UniProt features (97 total): modified residue 25, strand 18, sequence conflict 9, region of interest 7, helix 7, site 6, mutagenesis site 6, splice variant 5, turn 4, cross-link 3, chain 2, compositionally biased region 2, active site 1, domain 1, sequence variant 1

Structure

Experimental structures (PDB)

22 structures.

PDB	Method	Resolution (Å)
6BZM	ELECTRON CRYSTALLOGRAPHY	0.9
9PLM	X-RAY DIFFRACTION	1.32
9PLL	X-RAY DIFFRACTION	1.6
3MMY	X-RAY DIFFRACTION	1.65
2Q5X	X-RAY DIFFRACTION	1.9
7MNI	X-RAY DIFFRACTION	2
2Q5Y	X-RAY DIFFRACTION	2.3
7F90	X-RAY DIFFRACTION	2.39
7VPG	X-RAY DIFFRACTION	2.49
8CI8	ELECTRON MICROSCOPY	2.67
7Q64	ELECTRON MICROSCOPY	2.76
7Q66	ELECTRON MICROSCOPY	2.79
7VPH	X-RAY DIFFRACTION	2.8
7F60	X-RAY DIFFRACTION	2.85
1KO6	X-RAY DIFFRACTION	3
4OWR	X-RAY DIFFRACTION	3.15
7Q65	ELECTRON MICROSCOPY	3.32
7Q67	ELECTRON MICROSCOPY	3.37
7R5K	ELECTRON MICROSCOPY	12
5A9Q	ELECTRON MICROSCOPY	23
7PEQ	ELECTRON MICROSCOPY	35
7R5J	ELECTRON MICROSCOPY	50

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P52948-F1	56.96	0.05

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): 881 (nucleophile); 391–392 (breakpoint for translocation to form the nup98-rap1gds1 fusion protein. breakpoint for translocation to form the nup98-rap1gds1 fusion protein); 486–487 (breakpoint for translocation to form the nup98-hoxa9 fusion protein. breakpoint for translocation to form the nup98-rap1gds1 fusion protein); 531–532 (breakpoint for translocation to form nup98-ccdc28a); 531–532 (breakpoint for translocation to form nup98-phf23 oncogene); 531–532 (breakpoint for translocation to form the nup98-kdm5a fusion protein); 880–881 (cleavage; by autolysis)

Post-translational modifications (28): 524, 603, 608, 612, 618, 623, 625, 653, 670, 673, 681, 683, 839, 888, 897, 934, 1000, 1023, 1028, 1043 …

Mutagenesis-validated functional residues (6):

Position	Phenotype
808	no effect on autoprocessing. severe loss of autoprocessing; when associated with a-879.
816	slight reduction in autoprocessing.
879	moderate reduction in autoprocessing.
880–883	loss of processing. loss of nuclear membrane localization.
881	loss of autoprocessing. loss of nuclear membrane localization.
882	no effect in autoprocessing.

Function

Pathways and Gene Ontology

Reactome pathways

38 pathways

ID	Pathway
R-HSA-1169408	ISG15 antiviral mechanism
R-HSA-141444	Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal
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-191859	snRNP Assembly
R-HSA-2467813	Separation of Sister Chromatids
R-HSA-2500257	Resolution of Sister Chromatid Cohesion
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-4551638	SUMOylation of chromatin organization proteins
R-HSA-4570464	SUMOylation of RNA binding proteins
R-HSA-4615885	SUMOylation of DNA replication proteins
R-HSA-5578749	Transcriptional regulation by small RNAs
R-HSA-5619107	Defective TPR may confer susceptibility towards thyroid papillary carcinoma (TPC)
R-HSA-5663220	RHO GTPases Activate Formins
R-HSA-6784531	tRNA processing in the nucleus
R-HSA-68877	Mitotic Prometaphase

MSigDB gene sets: 286 (showing top): GOBP_CHROMOSOME_ORGANIZATION, ELVIDGE_HYPOXIA_DN, HORIUCHI_WTAP_TARGETS_DN, REACTOME_INTERACTIONS_OF_VPR_WITH_HOST_CELLULAR_PROTEINS, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, REACTOME_CYTOKINE_SIGNALING_IN_IMMUNE_SYSTEM, GOBP_POSITIVE_REGULATION_OF_RNA_SPLICING, GOBP_POSITIVE_REGULATION_OF_MRNA_PROCESSING, REACTOME_VIRAL_MESSENGER_RNA_SYNTHESIS, GOBP_CHROMOSOME_LOCALIZATION, GOBP_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_ORGANELLE, GOBP_NUCLEAR_PORE_ORGANIZATION, CREB_Q4, GOBP_NUCLEAR_TRANSPORT, BROWNE_HCMV_INFECTION_24HR_UP

GO Biological Process (12): post-transcriptional tethering of RNA polymerase II gene DNA at nuclear periphery (GO:0000973), RNA export from nucleus (GO:0006405), proteolysis (GO:0006508), protein import into nucleus (GO:0006606), nucleocytoplasmic transport (GO:0006913), nuclear pore organization (GO:0006999), telomere tethering at nuclear periphery (GO:0034398), positive regulation of mRNA splicing, via spliceosome (GO:0048026), mRNA transport (GO:0051028), nuclear pore complex assembly (GO:0051292), protein transport (GO:0015031), positive regulation of DNA-templated transcription (GO:0045893)

GO Molecular Function (12): transcription coactivator activity (GO:0003713), RNA binding (GO:0003723), mRNA binding (GO:0003729), nuclear localization sequence binding (GO:0008139), serine-type peptidase activity (GO:0008236), structural constituent of nuclear pore (GO:0017056), molecular condensate scaffold activity (GO:0140693), promoter-specific chromatin binding (GO:1990841), protein binding (GO:0005515), peptidase activity (GO:0008233), hydrolase activity (GO:0016787), peptide binding (GO:0042277)

GO Cellular Component (15): nuclear envelope (GO:0005635), nuclear pore (GO:0005643), nucleoplasm (GO:0005654), cytosol (GO:0005829), nuclear body (GO:0016604), nuclear pore outer ring (GO:0031080), nuclear membrane (GO:0031965), nuclear periphery (GO:0034399), nuclear inclusion body (GO:0042405), nuclear pore cytoplasmic filaments (GO:0044614), nuclear pore nuclear basket (GO:0044615), ribonucleoprotein complex (GO:1990904), kinetochore (GO:0000776), nucleus (GO:0005634), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-16 pathways:

Category	Pathways
Transport of Mature mRNAs Derived from Intronless Transcripts	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
Amplification of signal from the kinetochores	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
Mitotic Anaphase	1
Mitotic Prometaphase	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
nuclear pore	4
nuclear protein-containing complex	4
cellular anatomical structure	4
nucleus	3
RNA transport	2
binding	2
nuclear envelope	2
nuclear lumen	2
intracellular membraneless organelle	2
transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery	1
nuclear export	1
protein metabolic process	1
intracellular protein transport	1
protein localization to nucleus	1
import into nucleus	1
establishment of protein localization to organelle	1
nuclear transport	1
nucleus organization	1
protein-containing complex organization	1
telomere localization	1
mRNA splicing, via spliceosome	1
positive regulation of RNA splicing	1
regulation of mRNA splicing, via spliceosome	1
positive regulation of mRNA processing	1
nuclear pore organization	1
pore complex assembly	1
transport	1
intracellular protein localization	1
establishment of protein localization	1
DNA-templated transcription	1
regulation of DNA-templated transcription	1
positive regulation of RNA biosynthetic process	1
transcription coregulator activity	1
positive regulation of DNA-templated transcription	1
nucleic acid binding	1
RNA binding	1
signal sequence receptor activity	1
peptidase activity	1
serine hydrolase activity	1
structural molecule activity	1

Protein interactions and networks

STRING

3534 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
NUP98	NUP107	P57740	998
NUP98	NUP133	Q8WUM0	998
NUP98	SEC13	P55735	998
NUP98	NUP160	Q12769	998
NUP98	NUP37	Q8NFH4	998
NUP98	NUP85	Q9BW27	996
NUP98	SEH1L	Q96EE3	996
NUP98	NUP43	Q8NFH3	995
NUP98	NUP153	P49790	994
NUP98	RAE1	P78406	986
NUP98	NUP88	Q99567	979
NUP98	RANBP2	P49792	975
NUP98	NUP62	P37198	969
NUP98	HOXA9	P31269	965
NUP98	NUP155	O75694	963

IntAct

173 interactions, top by confidence:

A	B	Type	Score
RAE1	NUP98	psi-mi:“MI:0914”(association)	0.930
NUP98	RAE1	psi-mi:“MI:0915”(physical association)	0.930
NUP98	RAE1	psi-mi:“MI:0407”(direct interaction)	0.930
NUP98	RAE1	psi-mi:“MI:0914”(association)	0.930
	NUP98	psi-mi:“MI:0914”(association)	0.910
	NUP98	psi-mi:“MI:0915”(physical association)	0.910
	NUP98	psi-mi:“MI:0403”(colocalization)	0.910
NUP98		psi-mi:“MI:0914”(association)	0.910
	NUP98	psi-mi:“MI:0915”(physical association)	0.840
	NUP98	psi-mi:“MI:0914”(association)	0.840
NUP88	NUP214	psi-mi:“MI:0914”(association)	0.740
NUP133	NUP98	psi-mi:“MI:0914”(association)	0.730

BioGRID (401): NUP98 (Co-crystal Structure), NUP98 (Affinity Capture-MS), NUP98 (Affinity Capture-MS), NUP98 (Affinity Capture-MS), NUP98 (Affinity Capture-MS), NUP98 (Reconstituted Complex), NUP98 (Affinity Capture-MS), NUP98 (Affinity Capture-MS), NUP98 (Affinity Capture-MS), NUP98 (Affinity Capture-MS), NUP98 (Affinity Capture-MS), NUP98 (Affinity Capture-MS), NUP98 (Affinity Capture-MS), NUP98 (Affinity Capture-RNA), NUP107 (Co-fractionation)

ESM2 similar proteins: A7TSV7, A7Z035, F4ID16, G0S381, G0S4X2, G0SAK3, G0SDP9, G5EEH9, O15504, O42963, O74315, P48837, P49686, P49793, P52594, P52948, P98082, Q02199, Q02629, Q02630, Q09793, Q10168, Q14677, Q2TA45, Q4KLH5, Q54EQ8, Q5FVW4, Q5RB98, Q5XGN1, Q5Z807, Q5ZI22, Q6FPQ7, Q6P0U9, Q6PFD9, Q7JXF5, Q7K0D8, Q8CHU3, Q8CIC2, Q8IYB5, Q8K2K6

Diamond homologs: F4ID16, G0SAK3, G5EEH9, P49687, P49793, P52948, Q54EQ8, Q6PFD9, Q8LLD0, Q8RY25, Q9UTK4, Q9VCH5, Q02629, Q02630

SIGNOR signaling

12 interactions.

A	Effect	B	Mechanism
CDK1	“down-regulates activity”	NUP98	phosphorylation
RAE1	“up-regulates activity”	NUP98	binding
Interferon-type-I	“up-regulates quantity by expression”	NUP98	“transcriptional regulation”
NUP98	up-regulates	mRNA_nuclear_export
DHX9	“up-regulates activity”	NUP98	binding
6	“down-regulates activity”	NUP98	binding
NUP98	“form complex”	NPC	binding
NEK6	“down-regulates activity”	NUP98	phosphorylation

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 171 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
NEP/NS2 Interacts with the Cellular Export Machinery	13	38.5×	9e-16
Rev-mediated nuclear export of HIV RNA	14	38.0×	2e-16
Transport of the SLBP independent Mature mRNA	13	36.2×	2e-15
IPs transport between nucleus and cytosol	11	35.8×	3e-13
IP3 and IP4 transport between cytosol and nucleus	11	35.8×	3e-13
IP6 and IP7 transport between cytosol and nucleus	11	35.8×	3e-13
Transport of the SLBP Dependant Mature mRNA	13	35.2×	2e-15
Nuclear import of Rev protein	12	34.5×	4e-14

GO biological processes:

GO term	Partners	Fold	FDR
nucleocytoplasmic transport	12	32.2×	2e-12
RNA export from nucleus	5	32.1×	8e-05
mRNA export from nucleus	9	18.2×	5e-07
mRNA transport	9	16.2×	1e-06
protein import into nucleus	13	12.8×	1e-08
MAPK cascade	7	7.3×	6e-03

Disease & clinical

Cancer significance

From intOGen — cancer-driver classification: activating (oncogene-like) across 1 cancer types — LUSC.

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	1
Uncertain significance	200
Likely benign	15
Benign	10

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
375277	NM_016320.5(NUP98):c.5207A>G (p.Asn1736Ser)	Likely pathogenic

SpliceAI

5658 predictions. Top by Δscore:

Variant	Effect	Δscore
11:3676372:CATGT:C	acceptor_gain	1.0000
11:3676374:TGT:T	acceptor_gain	1.0000
11:3676377:C:CC	acceptor_gain	1.0000
11:3676503:GCTTA:G	donor_loss	1.0000
11:3676504:CTTAC:C	donor_loss	1.0000
11:3676505:TTACC:T	donor_loss	1.0000
11:3676506:TAC:T	donor_loss	1.0000
11:3676507:A:AC	donor_gain	1.0000
11:3676508:C:CG	donor_gain	1.0000
11:3676508:CCTGA:C	donor_gain	1.0000
11:3676616:TCCAC:T	acceptor_gain	1.0000
11:3676617:CCAC:C	acceptor_gain	1.0000
11:3676617:CCACC:C	acceptor_gain	1.0000
11:3676618:CAC:C	acceptor_gain	1.0000
11:3676618:CACC:C	acceptor_gain	1.0000
11:3676619:AC:A	acceptor_gain	1.0000
11:3676620:CC:C	acceptor_gain	1.0000
11:3676621:C:CC	acceptor_gain	1.0000
11:3676624:C:CT	acceptor_gain	1.0000
11:3676625:A:T	acceptor_gain	1.0000
11:3679624:T:TA	donor_gain	1.0000
11:3695488:AT:A	donor_gain	1.0000
11:3695489:T:TA	donor_gain	1.0000
11:3695604:CCC:C	acceptor_gain	1.0000
11:3695605:CC:C	acceptor_gain	1.0000
11:3695605:CCC:C	acceptor_gain	1.0000
11:3695606:CC:C	acceptor_gain	1.0000
11:3699114:AT:A	donor_gain	1.0000
11:3699180:T:TA	donor_gain	1.0000
11:3699181:C:A	donor_gain	1.0000

AlphaMissense

11745 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:3712717:A:C	F880L	1.000
11:3712717:A:T	F880L	1.000
11:3712718:A:G	F880S	1.000
11:3712719:A:G	F880L	1.000
11:3713821:A:C	F875L	1.000
11:3713821:A:T	F875L	1.000
11:3713822:A:G	F875S	1.000
11:3713823:A:G	F875L	1.000
11:3713829:A:G	W873R	1.000
11:3713829:A:T	W873R	1.000
11:3713832:A:G	S872P	1.000
11:3713834:C:A	G871V	1.000
11:3713834:C:T	G871D	1.000
11:3713850:A:C	Y866D	1.000
11:3713850:A:G	Y866H	1.000
11:3713857:G:C	F863L	1.000
11:3713857:G:T	F863L	1.000
11:3713858:A:G	F863S	1.000
11:3713859:A:G	F863L	1.000
11:3713891:A:G	L852S	1.000
11:3713967:A:G	W827R	1.000
11:3713967:A:T	W827R	1.000
11:3713978:A:G	L823S	1.000
11:3713984:A:T	V821D	1.000
11:3713990:G:T	A819D	1.000
11:3713991:C:G	A819P	1.000
11:3719460:A:T	V801D	1.000
11:3719487:A:T	V792E	1.000
11:3719532:A:G	F777S	1.000
11:3719542:A:G	S774P	1.000

dbSNP variants (sampled 300 via entrez): RS1000068934 (11:3689516 G>C), RS1000082069 (11:3684085 G>A,C), RS1000090952 (11:3794889 A>C,G), RS1000093585 (11:3684751 T>C), RS1000111269 (11:3729396 T>C), RS1000145474 (11:3684962 C>T), RS1000168741 (11:3771434 C>G,T), RS1000184636 (11:3722088 A>ATTAAGCACC), RS1000198150 (11:3797733 G>A,C,T), RS1000218950 (11:3794068 C>A,G,T), RS1000261057 (11:3744149 G>A), RS1000308949 (11:3733420 G>A,C,T), RS1000369446 (11:3678657 G>A,T), RS1000399259 (11:3771200 T>C), RS1000415035 (11:3774061 A>G)

Disease associations

OMIM: gene MIM:601021 | disease phenotypes: MIM:142623

GenCC curated gene-disease

Mondo (2): Hirschsprung disease, susceptibility to, 1 (MONDO:0007723), Hirschsprung disease (MONDO:0018309)

Orphanet (1): Hirschsprung disease (Orphanet:388)

HPO phenotypes

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

GWAS associations

4 associations (top):

Study	Trait	p-value
GCST002120_11	Metabolite levels (Dihydroxy docosatrienoic acid)	7.000000e-06
GCST010725_20	Malaria	4.000000e-69
GCST010725_33	Malaria	2.000000e-67
GCST010725_51	Malaria	1.000000e-55

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0005275	dihydroxy docosatrienoic acid measurement

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D006627	Hirschsprung Disease	C06.198.439; C06.405.469.158.701.439; C16.131.314.439

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
bisphenol A	decreases expression, decreases methylation, increases expression	3
Valproic Acid	affects expression, increases expression	3
Nickel	increases expression	2
Tobacco Smoke Pollution	increases expression	2
FR900359	affects phosphorylation	1
bisphenol F	affects cotreatment, increases expression	1
TAK-243	increases sumoylation	1
2,4,6-tribromophenol	decreases expression	1
triphenyl phosphate	affects expression	1
deoxynivalenol	increases expression	1
decabromobiphenyl ether	increases expression	1
beta-lapachone	increases expression	1
arsenite	affects binding, decreases reaction	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
sodium arsenite	increases reaction, affects binding	1
cobaltous chloride	decreases expression	1
tetrabromobisphenol A	increases expression	1
benzo(e)pyrene	increases methylation	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
nickel sulfate	increases expression	1
coumarin	decreases phosphorylation	1
methacrylaldehyde	affects cotreatment, increases oxidation	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
di-n-butylphosphoric acid	affects expression	1
deguelin	decreases expression	1
abrine	increases expression	1
2,2’,4,4’-tetrabromodiphenyl ether	decreases expression	1
pentabrominated diphenyl ether 100	increases expression	1
hexabrominated diphenyl ether 153	decreases expression	1
bisphenol S	affects expression	1

Cellosaurus cell lines

2 cell lines: 1 cancer cell line, 1 embryonic stem cell

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

Cellosaurus	Name	Category	Sex
CVCL_6864	Kasumi-5	Cancer cell line	Male
CVCL_A8DI	WAe009-A-60	Embryonic stem cell	Female

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT02343562	PHASE4	UNKNOWN	Probiotics for Prophylaxis of Postoperative Hirschsprungs Associated Enterocolitis
NCT07186647	PHASE4	COMPLETED	Laparoscopic-Assisted Transanal Pull-Through for Hirschsprung Disease in Pediatric:Short and Intermediate Outcomes of Two Different Techniques
NCT04904081	PHASE3	UNKNOWN	Feasibility of Use of Indocyanine Green in Pediatric Colorectal Surgery
NCT03660176	PHASE3	UNKNOWN	Effects of Butyrate Enemas on Postoperative Intestinal Mobility Disorders in Hirschsprung’s Disease
NCT00630838	PHASE2	COMPLETED	Probiotic Prophylaxis of Hirschprung’s Disease Associated Enterocolitis (HAEC)
NCT01985646	EARLY_PHASE1	COMPLETED	A Trial on Conservative Treatment for Infants’ Hirschsprung Disease
NCT00478712	Not specified	RECRUITING	Hirschsprung Disease Genetic Study
NCT01515501	Not specified	COMPLETED	Endoscopic Mucosal Resection for the Diagnosis of a-Ganglionosis, a Controlled Prospective Trial (EDGE Trial)
NCT01793168	Not specified	RECRUITING	Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
NCT01927809	Not specified	UNKNOWN	Genetic Mosaicism in Hirschsprung’s Disease
NCT02193685	Not specified	UNKNOWN	Identification Genetic, Immunologic and Microbial Markers of Hirschsprung Associated Enterocolitis in Children With Hirschsprung Disease
NCT02216994	Not specified	UNKNOWN	A New Scoring System Improves Diagnostic Accuracy of Intestinal Dysganglionosis –a Prospective Study
NCT02296008	Not specified	COMPLETED	3D High Resolution Anorectal Manometry in Children After Surgery for Anorectal Disorders
NCT02776176	Not specified	UNKNOWN	Enhanced Recovery After Surgery In Hirschsprung Disease
NCT02857205	Not specified	COMPLETED	MICROPRUNG : Intestinal Microbiota Analysis in Patients With or Without Hirschsprung’s Associated EnteroColitis
NCT03269812	Not specified	UNKNOWN	Laparoscopic Assisted Pull-through Versus Other Surgical Procedures for Treatment of Hirschsprung Disease
NCT03666767	Not specified	COMPLETED	Management and Outcomes of Congenital Anomalies in Low-, Middle- and High-Income Countries
NCT04020939	Not specified	COMPLETED	The Role of Indocyanine Green Angiography Fluorescence on Intestinal Resections in Pediatric Surgery.
NCT04106947	Not specified	UNKNOWN	Transition of Care for Patients With Hirschsprung Disease and Anorectal Malformations
NCT04149093	Not specified	UNKNOWN	The Association Between Calretinin and the Function of Ganglion Cells in Hirschsprung Disease
NCT04150120	Not specified	COMPLETED	eHealth as an Aid for Facilitating and Supporting Self-management in Families With Long-term Childhood Illness
NCT04213976	Not specified	UNKNOWN	Ostomy in Continuity or Conventional Ileostomy: a Retrospective Multicentric Analysis
NCT04476225	Not specified	COMPLETED	Induced Pluripotent Stem Cells for Disease Research
NCT04598841	Not specified	COMPLETED	Nutrition Support for Hirschsprung Disease
NCT04622410	Not specified	RECRUITING	Registry for Hirschsprung Disease of the BELAPS
NCT04624334	Not specified	TERMINATED	Non-invasive Assessment of Colonic Motility
NCT04730128	Not specified	COMPLETED	Translation and Validation of a Disease-specific Questionnaire for Hirschsprung’s Disease in Danish Patients
NCT04837963	Not specified	COMPLETED	Does Hirschsprung Disease Increase the Risk of Febrile Urinary Tract Infection in Children
NCT04957667	Not specified	COMPLETED	Scintigraphic Defecography for Evaluation of Functional Outcome in an Adult Hirschsprung Population
NCT05038345	Not specified	TERMINATED	Hirschsprung Disease Trends in the United States: Analysis of the National Inpatient Sample
NCT05044741	Not specified	COMPLETED	Risk Factors of Perforated HSCR in Neonates
NCT05293353	Not specified	UNKNOWN	Neokare Safety and Tolerability Assessment in Neonates With GI Problems
NCT05307419	Not specified	UNKNOWN	Full Thickness vs. Rectal Suction Biopsy in the Diagnosis of Hirschsprungs Disease
NCT05450991	Not specified	RECRUITING	Long-term Qualitative and Quantitative Outcomes of Children With Hirschsprung’s Disease and Anorectal Malformations
NCT05655845	Not specified	UNKNOWN	Risk Factors for Bowel Dysfunction at Preschool and Early Childhood Age in Children With Hirschsprung Disease
NCT06072976	Not specified	RECRUITING	The Influence of Feeding Source on the Gut Microbiome and Time to Full Feeds in Neonates With Congenital Gastrointestinal Pathologies
NCT06197061	Not specified	UNKNOWN	Comparison of Robot-assisted With Laparoscopic-assisted Modified Soave Procedure for Classical Hirschsprung Disease
NCT06573723	Not specified	RECRUITING	Institutional Registry of Rare Diseases
NCT06590142	Not specified	RECRUITING	Hirschsprung’s Advances; Working Towards Autologous tIssue therapIes
NCT06592534	Not specified	NOT_YET_RECRUITING	Babies With Enterocolitis - A Study of Faecal Calprotectin in Hirschsprung Disease (The BEACH Study)