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Aliases for NUP98 Gene

Aliases for NUP98 Gene

  • Nucleoporin 98 2 3 5
  • Nucleoporin 98kDa 2 3
  • Nuclear Pore Complex Protein Nup98-Nup96 3
  • GLFG-Repeat Containing Nucleoporin 3
  • Nuclear Pore Complex Protein Nup98 3
  • NUP98/PHF23 Fusion 2 Protein 3
  • Nucleoporin 98kD 3
  • Nup98-Nup96 3
  • EC 3.4.21.- 4
  • NUP196 3
  • ADAR2 4
  • ADIR2 3
  • NUP96 3

External Ids for NUP98 Gene

Previous GeneCards Identifiers for NUP98 Gene

  • GC11M004267
  • GC11M003962
  • GC11M003655
  • GC11M003660
  • GC11M003652
  • GC11M003696
  • GC11M003430
  • GC11M003697

Summaries for NUP98 Gene

Entrez Gene Summary for NUP98 Gene

  • 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. [provided by RefSeq, Feb 2016]

GeneCards Summary for NUP98 Gene

NUP98 (Nucleoporin 98) is a Protein Coding gene. Diseases associated with NUP98 include Myeloid Leukemia and Myelodysplastic Syndrome. Among its related pathways are Mitotic Prophase and SUMOylation. Gene Ontology (GO) annotations related to this gene include transporter activity and structural constituent of nuclear pore.

UniProtKB/Swiss-Prot for NUP98 Gene

  • 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 (PubMed:28221134). Involved in the localization of DHX9 in discrete intranuclear foci (GLFG-body) (PubMed:28221134).

Gene Wiki entry for NUP98 Gene

Additional gene information for NUP98 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NUP98 Gene

Genomics for NUP98 Gene

GeneHancer (GH) Regulatory Elements for NUP98 Gene

Promoters and enhancers for NUP98 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11I003795 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 580 +0.6 581 3.9 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 YY1 POLR2B E2F8 ZNF207 NUP98 PGAP2 CARS-AS1 GC11P003794 GC11M003657 GC11M003656
GH11I003783 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE dbSUPER 550.4 +11.8 11798 4.4 HDGF ATF1 PKNOX1 SMAD1 BMI1 BATF KLF5 IRF4 ZNF143 ATF7 NUP98 ART5 GC11P003781 GC11P003794 GC11M003656 GC11M003657
GH11I003830 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 27.9 -38.5 -38516 12.5 HDGF PKNOX1 SMAD1 ARNT ARID4B SIN3A DMAP1 YY1 SLC30A9 POLR2B RHOG NUP98 RRM1 ENSG00000206976 ART1 ART5 CHRNA10 STIM1 PPIAP40 ENSG00000236710
GH11I003055 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE 23.8 +740.3 740293 4.2 HDGF PKNOX1 ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B CARS NUP98 ENSG00000183562 NAP1L4 TSSC4 RNU1-91P GC11M003048
GH11I003377 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE 21.7 +418.0 417965 4.6 HDGF PKNOX1 CLOCK FOXA2 ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 TSSC2 ZNF195 NUP98 RRM1 TSSC4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around NUP98 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the NUP98 gene promoter:

Genomic Locations for NUP98 Gene

Genomic Locations for NUP98 Gene
chr11:3,671,083-3,797,792
(GRCh38/hg38)
Size:
126,710 bases
Orientation:
Minus strand
chr11:3,692,313-3,819,022
(GRCh37/hg19)

Genomic View for NUP98 Gene

Genes around NUP98 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NUP98 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NUP98 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NUP98 Gene

Proteins for NUP98 Gene

  • Protein details for NUP98 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P52948-NUP98_HUMAN
    Recommended name:
    Nuclear pore complex protein Nup98-Nup96
    Protein Accession:
    P52948
    Secondary Accessions:
    • Q8IUT2
    • Q8WYB0
    • Q96E54
    • Q9H3Q4
    • Q9NT02
    • Q9UF57
    • Q9UHX0
    • Q9Y6J4
    • Q9Y6J5

    Protein attributes for NUP98 Gene

    Size:
    1817 amino acids
    Molecular mass:
    197579 Da
    Quaternary structure:
    • Part of the nuclear pore complex (NPC) (PubMed:15229283, PubMed:18287282). Interacts directly with NUP96 (PubMed:12191480). 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 (PubMed:11684705). Interacts with RAE1 (PubMed:10209021, PubMed:20498086). Does not interact with TPR (PubMed:11684705). Interacts directly with NUP88 and NUP214, subunits of the cytoplasmic filaments of the NPC (By similarity). 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 (PubMed:28221134).
    • (Microbial infection) Interacts with vesicular stomatitis virus protein M (PubMed:11106761).
    SequenceCaution:
    • Sequence=AAD22395.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of unknown origin in the C-terminal part.; Evidence={ECO:0000305}; Sequence=AAD22396.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of unknown origin in the C-terminal part.; Evidence={ECO:0000305}; Sequence=AAF19342.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAF19342.1; Type=Frameshift; Positions=1551; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for NUP98 Gene

    Alternative splice isoforms for NUP98 Gene

neXtProt entry for NUP98 Gene

Post-translational modifications for NUP98 Gene

  • Isoform 1 to isoform 4 are autoproteolytically cleaved to yield Nup98 and Nup96 or Nup98 only, respectively (PubMed:10087256, PubMed:20407419, PubMed:12191480, PubMed:18287282). Cleaved Nup98 is necessary for the targeting of Nup98 to the nuclear pore and the interaction with Nup96 (PubMed:20407419, PubMed:12191480).
  • Proteolytically degraded after poliovirus (PV) infection; degradation is partial and NCP- and TPR-binding domains withstand degradation.
  • Ubiquitination at Lys193, isoforms=2, 3, 4, 5, 6534, Lys572, Lys603, Lys639, Lys757, Lys1040, isoforms=2, 5, 61052, Lys1222, isoforms=2, 5, 61341, Lys1405, Lys1601, Lys1608, isoforms=2, 5, 61668, Lys1722, isoforms=2, 5, 61739, and Lys1092

No data available for DME Specific Peptides for NUP98 Gene

Domains & Families for NUP98 Gene

Gene Families for NUP98 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for NUP98 Gene

Suggested Antigen Peptide Sequences for NUP98 Gene

Graphical View of Domain Structure for InterPro Entry

P52948

UniProtKB/Swiss-Prot:

NUP98_HUMAN :
  • Contains G-L-F-G repeats. The FG repeat domains in Nup98 have a direct role in the transport.
  • Belongs to the nucleoporin GLFG family.
Domain:
  • Contains G-L-F-G repeats. The FG repeat domains in Nup98 have a direct role in the transport.
Family:
  • Belongs to the nucleoporin GLFG family.
genes like me logo Genes that share domains with NUP98: view

Function for NUP98 Gene

Molecular function for NUP98 Gene

GENATLAS Biochemistry:
nucleoporin,essential component of multiple RNA export pathway,unlikely involved in the nuclear import of protein,fused with HOX9D in acute myeloid leukemia with translocation t(7;11) (p15;p15),and with DDX10 in de novo or therapy related myeloid malignancies with HOXD13 in translocation t(2;11) (q35;p15) with inv11(p15-q22) and with PMX1 in translocation t(1;11) (q23;p15),with RAP1GDS1 in t(4;11)(q21;p15) in T cell acute lymphocitic leukemia,fused with TOP1 in t(11;20)(p15;q11) in therapy related myelodysplastic syndrome
UniProtKB/Swiss-Prot 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 (PubMed:28221134). Involved in the localization of DHX9 in discrete intranuclear foci (GLFG-body) (PubMed:28221134).

Enzyme Numbers (IUBMB) for NUP98 Gene

Phenotypes From GWAS Catalog for NUP98 Gene

Gene Ontology (GO) - Molecular Function for NUP98 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001105 RNA polymerase II transcription coactivator activity IMP 28221134
GO:0003723 RNA binding IBA --
GO:0003729 mRNA binding IMP 28221134
GO:0005215 transporter activity TAS 7736573
GO:0005487 nuclear pore activity IBA --
genes like me logo Genes that share ontologies with NUP98: view
genes like me logo Genes that share phenotypes with NUP98: view

Animal Models for NUP98 Gene

MGI Knock Outs for NUP98:

Animal Model Products

CRISPR Products

miRNA for NUP98 Gene

miRTarBase miRNAs that target NUP98

Clone Products

  • Addgene plasmids for NUP98

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for NUP98 Gene

Localization for NUP98 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NUP98 Gene

Nucleus membrane; Peripheral membrane protein; Nucleoplasmic side. Nucleus, nuclear pore complex. Nucleus, nucleoplasm. Note=Localized to the nucleoplasmic side of the nuclear pore complex (NPC), at or near the nucleoplasmic basket (PubMed:11839768). Dissociates from the dissasembled NPC structure early during prophase of mitosis (PubMed:12802065). Colocalized with NUP153 and TPR to the nuclear basket of NPC (PubMed:11839768). Colocalized with DHX9 in diffuse and discrete intranuclear foci (GLFG-body) (PubMed:11839768, PubMed:28221134). Remains localized to the nuclear membrane after poliovirus (PV) infection (PubMed:11106761). {ECO:0000269 PubMed:11106761, ECO:0000269 PubMed:11839768, ECO:0000269 PubMed:12802065, ECO:0000269 PubMed:28221134}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NUP98 gene
Compartment Confidence
nucleus 5
cytosol 5
plasma membrane 1
cytoskeleton 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (3)
  • Vesicles (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for NUP98 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000776 colocalizes_with kinetochore IDA 15146057
GO:0005634 nucleus IEA --
GO:0005635 nuclear envelope TAS --
GO:0005643 nuclear pore NAS 10087256
GO:0005654 nucleoplasm TAS --
genes like me logo Genes that share ontologies with NUP98: view

Pathways & Interactions for NUP98 Gene

SuperPathways for NUP98 Gene

SuperPathway Contained pathways
1 Transport of the SLBP independent Mature mRNA
2 HIV Life Cycle
.45
3 Cell Cycle, Mitotic
.60
4 Mitotic Prophase
5 Influenza Viral RNA Transcription and Replication
genes like me logo Genes that share pathways with NUP98: view

Pathways by source for NUP98 Gene

2 KEGG pathways for NUP98 Gene

SIGNOR curated interactions for NUP98 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for NUP98 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000973 posttranscriptional tethering of RNA polymerase II gene DNA at nuclear periphery IBA --
GO:0006110 regulation of glycolytic process TAS --
GO:0006260 DNA replication IMP 9348540
GO:0006366 transcription by RNA polymerase II IEA --
GO:0006405 RNA export from nucleus IBA --
genes like me logo Genes that share ontologies with NUP98: view

Drugs & Compounds for NUP98 Gene

(3) Additional Compounds for NUP98 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with NUP98: view

Transcripts for NUP98 Gene

Unigene Clusters for NUP98 Gene

Nucleoporin 98kDa:
Representative Sequences:

CRISPR Products

Clone Products

  • Addgene plasmids for NUP98

Alternative Splicing Database (ASD) splice patterns (SP) for NUP98 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11a · 11b · 11c · 11d · 11e ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16a · 16b ^
SP1: - - -
SP2: - -
SP3: - - -
SP4:
SP5:
SP6: - - -
SP7:
SP8: -
SP9: - - -
SP10:
SP11:
SP12:
SP13:

ExUns: 17a · 17b ^ 18 ^ 19 ^ 20 ^ 21a · 21b ^ 22a · 22b ^ 23 ^ 24a · 24b ^ 25 ^ 26 ^ 27a · 27b ^ 28 ^ 29a · 29b ^ 30a · 30b ^ 31 ^ 32a · 32b ^ 33a · 33b ^
SP1: - - -
SP2:
SP3:
SP4: - - -
SP5:
SP6:
SP7: -
SP8:
SP9:
SP10: - - -
SP11: -
SP12:
SP13:

ExUns: 34a · 34b · 34c · 34d
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:

Relevant External Links for NUP98 Gene

GeneLoc Exon Structure for
NUP98
ECgene alternative splicing isoforms for
NUP98

Expression for NUP98 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for NUP98 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for NUP98 Gene

This gene is overexpressed in Serum (29.5) and Peripheral blood mononuclear cells (8.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for NUP98 Gene



Protein tissue co-expression partners for NUP98 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of NUP98 Gene:

NUP98

SOURCE GeneReport for Unigene cluster for NUP98 Gene:

Hs.524750

Evidence on tissue expression from TISSUES for NUP98 Gene

  • Blood(4.5)
  • Liver(4.3)
  • Bone marrow(3.1)
  • Nervous system(3.1)
genes like me logo Genes that share expression patterns with NUP98: view

Primer Products

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for NUP98 Gene

Orthologs for NUP98 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for NUP98 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NUP98 34
  • 100 (a)
OneToOne
LOC100609884 33
  • 99.46 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 93 (a)
OneToMany
-- 34
  • 92 (a)
OneToMany
-- 34
  • 89 (a)
OneToMany
-- 34
  • 82 (a)
OneToMany
-- 34
  • 58 (a)
OneToMany
dog
(Canis familiaris)
Mammalia NUP98 33 34
  • 92.27 (n)
cow
(Bos Taurus)
Mammalia NUP98 33 34
  • 91.92 (n)
mouse
(Mus musculus)
Mammalia Nup98 33 16 34
  • 89.36 (n)
rat
(Rattus norvegicus)
Mammalia Nup98 33
  • 88.88 (n)
oppossum
(Monodelphis domestica)
Mammalia NUP98 34
  • 85 (a)
OneToOne
chicken
(Gallus gallus)
Aves -- 34
  • 77 (a)
OneToMany
-- 34
  • 75 (a)
OneToMany
NUP98 33
  • 73.37 (n)
lizard
(Anolis carolinensis)
Reptilia NUP98 34
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nup98 33
  • 65.57 (n)
Str.6622 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.2522 33
zebrafish
(Danio rerio)
Actinopterygii nup98 33 34
  • 62.83 (n)
zgc63593 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.11018 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002351 33
  • 46.77 (n)
fruit fly
(Drosophila melanogaster)
Insecta Nup98-96 33 34
  • 45.73 (n)
CG10198 35
  • 29 (a)
worm
(Caenorhabditis elegans)
Secernentea npp-10 34
  • 26 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes NUP145 34
  • 23 (a)
OneToOne
NUP100 36
thale cress
(Arabidopsis thaliana)
eudicotyledons SAR3 33
  • 43.72 (n)
rice
(Oryza sativa)
Liliopsida Os03g0172000 33
  • 41.76 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 38 (a)
OneToOne
Species where no ortholog for NUP98 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for NUP98 Gene

ENSEMBL:
Gene Tree for NUP98 (if available)
TreeFam:
Gene Tree for NUP98 (if available)

Paralogs for NUP98 Gene

genes like me logo Genes that share paralogs with NUP98: view

No data available for Paralogs for NUP98 Gene

Variants for NUP98 Gene

Sequence variations from dbSNP and Humsavar for NUP98 Gene

SNP ID Clin Chr 11 pos Variation AA Info Type
rs1057519323 likely-pathogenic, Hirschsprung disease 1 3,676,355(-) T/C coding_sequence_variant, genic_downstream_transcript_variant, missense_variant
VAR_035859 A breast cancer sample p.Gly1669Val
rs1000064885 -- 3,799,778(-) GGG/GGGGGG upstream_transcript_variant
rs1000068934 -- 3,689,516(-) G/C genic_downstream_transcript_variant, intron_variant
rs1000082069 -- 3,684,085(-) G/A/C genic_downstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for NUP98 Gene

Variant ID Type Subtype PubMed ID
nsv832052 CNV loss 17160897
nsv832051 CNV gain 17160897
nsv528141 CNV loss 19592680
nsv526441 CNV gain 19592680
nsv428247 CNV loss 18775914
nsv1136122 CNV deletion 24896259
nsv1070003 CNV deletion 25765185
nsv1046356 CNV gain 25217958
esv3891910 CNV gain 25118596
esv3625155 CNV loss 21293372
esv3625148 CNV gain 21293372
esv3625147 CNV gain 21293372
esv2759796 CNV gain+loss 17122850
esv2744047 CNV deletion 23290073
esv2664722 CNV deletion 23128226
dgv578n106 OTHER inversion 24896259

Variation tolerance for NUP98 Gene

Residual Variation Intolerance Score: 73.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.65; 72.79% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NUP98 Gene

Human Gene Mutation Database (HGMD)
NUP98
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NUP98

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NUP98 Gene

Disorders for NUP98 Gene

MalaCards: The human disease database

(9) MalaCards diseases for NUP98 Gene - From: HGMD, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
myeloid leukemia
  • leukemia myelogenous
myelodysplastic syndrome
  • mds
hematologic cancer
  • blood cancer
leukemia, acute monocytic
  • acute monocytic leukemia
stomatitis
- elite association - COSMIC cancer census association via MalaCards
Search NUP98 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

NUP98_HUMAN
  • Note=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. {ECO:0000269 PubMed:16028218}.
  • Note=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. {ECO:0000269 PubMed:16028218}.
  • Note=A chromosomal aberration involving NUP98 is found in a form of acute myeloid leukemia. Translocation t(7;11)(p15;p15) with HOXA9. Translocation t(11;17)(p15;p13) with PHF23. {ECO:0000269 PubMed:16028218}.
  • Note=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. {ECO:0000269 PubMed:16028218}.
  • Note=A chromosomal aberration involving NUP98 is found in a form of therapy-related myelodysplastic syndrome. Translocation t(11;20)(p15;q11) with TOP1. {ECO:0000269 PubMed:16028218}.
  • Note=A chromosomal aberration involving NUP98 is found in childhood acute myeloid leukemia. Translocation t(5;11)(q35;p15.5) with NSD1. Translocation t(8;11)(p11.2;p15) with WHSC1L1. {ECO:0000269 PubMed:16028218}.

Additional Disease Information for NUP98

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with NUP98: view

No data available for Genatlas for NUP98 Gene

Publications for NUP98 Gene

  1. Structural constraints on autoprocessing of the human nucleoporin Nup98. (PMID: 18287282) Sun Y … Guo HC (Protein science : a publication of the Protein Society 2008) 3 4 22 58
  2. t(9;11)(p22;p15) with NUP98-LEDGF fusion gene in pediatric acute myeloid leukemia. (PMID: 15725483) Morerio C … Panarello C (Leukemia research 2005) 3 4 22 58
  3. Nucleoporins as components of the nuclear pore complex core structure and Tpr as the architectural element of the nuclear basket. (PMID: 15229283) Krull S … Cordes VC (Molecular biology of the cell 2004) 3 4 22 58
  4. The three-dimensional structure of the autoproteolytic, nuclear pore-targeting domain of the human nucleoporin Nup98. (PMID: 12191480) Hodel AE … Powers MA (Molecular cell 2002) 3 4 22 58
  5. NUP98 is fused to the NSD3 gene in acute myeloid leukemia associated with t(8;11)(p11.2;p15). (PMID: 11986249) Rosati R … Mecucci C (Blood 2002) 3 4 22 58

Products for NUP98 Gene

Sources for NUP98 Gene