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NUP98 (nucleoporin 98 kDa)

Written2002-03Lyndal Kearney
Leukaemia Research Fund Centre, Institute of Cancer Research, Chester Beatty Laboratories, 237 Fulham Road, London SW3 6JB, UK
This article is an update of :
2000-02Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France
1998-11Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France
1998-01Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

(Note : for Links provided by Atlas : click)

Identity

HGNC (Hugo) NUP98
HGNC Alias symbNUP96
Nup98-Nup96
Nup98-96
HGNC Alias nameNuclear pore complex protein Nup98-Nup96
 nucleoporin 96
HGNC Previous namenucleoporin 98kDa
 nucleoporin 98
LocusID (NCBI) 4928
Atlas_Id 63
Location 11p15.4  [Link to chromosome band 11p15]
Location_base_pair Starts at 3675019 and ends at 3797554 bp from pter ( according to GRCh38/hg38-Dec_2013)  [Mapping NUP98.png]
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
ADD3 (10q25.1)::NUP98 (11p15.4)ANKRD28 (3p25.1)::NUP98 (11p15.4)C11orf49 (11p11.2)::NUP98 (11p15.4)
CACNB2 (10p12.33)::NUP98 (11p15.4)CUX1 (7q22.1)::NUP98 (11p15.4)DDX10 (11q22.3)::NUP98 (11p15.4)
HOXA1 (7p15.2)::NUP98 (11p15.4)HOXA11 (7p15.2)::NUP98 (11p15.4)HOXA13 (7p15.2)::NUP98 (11p15.4)
HOXA9 (7p15.2)::NUP98 (11p15.4)HOXC11 (12q13.13)::NUP98 (11p15.4)HOXC12 (12q13.13)::NUP98 (11p15.4)
HOXC13 (12q13.13)::NUP98 (11p15.4)HOXD1 (2q31.1)::NUP98 (11p15.4)HOXD11 (2q31.1)::NUP98 (11p15.4)
HOXD13 (2q31.1)::NUP98 (11p15.4)KDM5A (12p13.33)::NUP98 (11p15.4)MIA3 (1q41)::NUP98 (11p15.4)
NSD1 (5q35.2)::NUP98 (11p15.4)NSD1 (5q35.3)::NUP98 (11p15.4)NSD3 (8p11.23)::NUP98 (11p15.4)
NUP98 (11p15.4)::ADD3 (10q25.1)NUP98 (11p15.4)::BPTF (17q24.2)NUP98 (11p15.4)::CCDC28A (6q24.1)
NUP98 (11p15.4)::CUX1 (7q22.1)NUP98 (11p15.4)::DDX10 (11q22.3)NUP98 (11p15.4)::FN1 (2q35)
NUP98 (11p15.4)::HHEX (10q23.33)NUP98 (11p15.4)::HMGB3 (Xq28)NUP98 (11p15.4)::HOXA1 (7p15.2)
NUP98 (11p15.4)::HOXA11 (7p15.2)NUP98 (11p15.4)::HOXA13 (7p15.2)NUP98 (11p15.4)::HOXA9 (7p15.2)
NUP98 (11p15.4)::HOXC11 (12q13.13)NUP98 (11p15.4)::HOXC12 (12q13.13)NUP98 (11p15.4)::HOXC13 (12q13.13)
NUP98 (11p15.4)::HOXD1 (2q31.1)NUP98 (11p15.4)::HOXD11 (2q31.1)NUP98 (11p15.4)::HOXD13 (2q31.1)
NUP98 (11p15.4)::IQCG (3q29)NUP98 (11p15.4)::KDM5A (12p13.33)NUP98 (11p15.4)::KMT2A (11q23.3)
NUP98 (11p15.4)::LNP1 (3q12.2)NUP98 (11p15.4)::NSD1 (5q35.2)NUP98 (11p15.4)::NSD1 (5q35.3)
NUP98 (11p15.4)::NSD3 (8p11.23)NUP98 (11p15.4)::NUP98 (11p15.4)NUP98 (11p15.4)::PDC (1q31.1)
NUP98 (11p15.4)::PHF23 (17p13.1)NUP98 (11p15.4)::POU1F1 (3p11.2)NUP98 (11p15.4)::PRRX1 (1q24.2)
NUP98 (11p15.4)::PRRX2 (9q34.11)NUP98 (11p15.4)::PSIP1 (9p22.3)NUP98 (11p15.4)::RAP1GDS1 (4q23)
NUP98 (11p15.4)::RARG (12q13.13)NUP98 (11p15.4)::RHOG (11p15.4)NUP98 (11p15.4)::SET (9q34.11)
NUP98 (11p15.4)::SETBP1 (18q12.3)NUP98 (11p15.4)::SRGAP2B (1p11.2)NUP98 (11p15.4)::TMEM117 (12q12)
NUP98 (11p15.4)::TNFRSF1B (1p36.22)NUP98 (11p15.4)::TOP1 (20q12)NUP98 (11p15.4)::TOP2B (3p24.2)
NUP98 (11p15.4)::ZFP69B (1p34.2)PRRX1 (1q24.2)::NUP98 (11p15.4)PSIP1 (9p22.3)::NUP98 (11p15.4)
RAP1GDS1 (4q23)::NUP98 (11p15.4)SETBP1 (18q12.3)::NUP98 (11p15.4)STIM1 (11p15.4)::NUP98 (11p15.4)
TOP1 (20q12)::NUP98 (11p15.4)TOP2B (3p24.2)::NUP98 (11p15.4)ZNF141 (4p16.3)::NUP98 (11p15.4)
Note see also The nuclear pore complex: structure and function

DNA/RNA

Transcription 3.6, 6.5 , 7.0 kb mRNA

Protein

 
  NUP98 protein; NUP98 contains a Gly-Leu-Phe-Gly (GLFG and FG) repeat in N-term (aa 1-156), a GLEBS-like motif (which binds RAE1, aa 157-213), another FG motif (aa 214-480) and a RNA binding motif in C-term (aa 738-880). NUP98 is involved in nuclear import/export, mitotic progression, and regulation of gene expression
Description 920 amino acids; 97 kDa; contains repeated motifs (GLFG and FG) in N-term and a RNA binding motif in C-term
Expression wide
Localisation nuclear membrane localisation
Function nucleoporin: associated with the nuclear pore complex; role in nucleocytoplasmic transport processes
Homology member of the GLFG nucleoporins

Implicated in

Note
  
Entity / myelodysplasic syndrome (MDS) or acute non lymphocytic leukemia (AML) --> NUP98-DDX10
Disease therapy related MDS (t-MDS) and AML; de novo AML
Hybrid/Mutated Gene 5' NUP98 - 3' DDX10
Abnormal Protein fuses the GLFG repeat domains of NUP98 to the acidic domain of DDX10
  
  
Entity / t-MDS orAML --> NUP98 -PMX1
Disease One case of t-AML
Hybrid/Mutated Gene 5' NUP98 - 3' PMX1
Abnormal Protein fuses the GLFG repeat domains of NUP98 to the homeodomain of PMX1
  
  
Entity /treatment related leukaemia --> NUP98 -HOXD13
Disease so far, only 1 case of treatment related myelodysplasia evolving towards M6 acute myeloid leukemia
Hybrid/Mutated Gene 5' NUP98 - 3' HOXD13
Abnormal Protein fuses the GLFG repeat domains of NUP98 to the HOXD13 homeodomain
  
  
Entity / T- acute lymphoblastic leukemia (ALL) --> NUP98 -RAP1GDS1
Disease 3 cases of adult T-ALL
Hybrid/Mutated Gene 5' NUP98 - 3' RAP1GDS1
Abnormal Protein fuses the GLFG repeat domains of NUP98 to the entire coding region of RAP1GDS1. The product, rap1gds, has guanine nucleotide exchange factor activity.
  
  
Entity / AML--> NUP98 -NSD1
Disease AML. 5 cases reported to date. All were children or young adults (age range 3-18 years). Note that the t(5;11)(q35;p15.5) is not detectable by G-banding. Three cases were reported as cryptic t(5;11) associated with del(5q); a further two cases were identified in apparently normal karyotypes.
Hybrid/Mutated Gene 5' NUP98 - 3' NSD1
Abnormal Protein fuses the GLFG repeat domains of NUP98 to the conserved SET, SAC and PHD finger domains of the NSD1 gene.
  
  
Entity /AML --> NUP98 -HOXA9
Disease M2-M4 AML mostly; occasionally: CML-like cases
Prognosis mean survival: 15 mths
Cytogenetics sole anomaly most often
Hybrid/Mutated Gene 5' NUP98 - 3' HOXA9
Abnormal Protein fuses the GLFG repeat domains of NUP98 to the HOXA9 homeobox
  
  
Entity /AML--> NUP98 -LEDGF
Disease One case of de novo AML
Hybrid/Mutated Gene 5' NUP98 - 3' LEDGF
Abnormal Protein fuses the GLFG repeat domains of NUP98 to the COOH terminal of the LEDGF gene (encoding transcriptional activators p52 and p75)
  
  
Entity /treatment related leukemia (t-AML/MDS)
Disease 1patient with t-MDS/AML
Hybrid/Mutated Gene 5'; NUP98 - 3'; unknown
  
  
Entity t-MDS/AML
Disease 1 patient with t-MDS/AML
Hybrid/Mutated Gene 5' NUP98 - 3' unknown
  
  
Entity /AML, t-MDS/AML--> NUP98 -TOP1
Disease AML, t-MDS/AML
Hybrid/Mutated Gene 5' NUP98 - 3' TOP1
Abnormal Protein fuses the GLFG repeat domains of NUP98 to the catalytic domain of TOP1
  

Breakpoints

 

Bibliography

Potential role for DNA topoisomerase II poisons in the generation of t(11;20)(p15;q11) translocations.
Ahuja HG, Felix CA, Aplan PD
Genes, chromosomes & cancer. 2000 ; 29 (2) : 96-105.
PMID 10959088
 
t(9;11)(p22;p15) in acute myeloid leukemia results in a fusion between NUP98 and the gene encoding transcriptional coactivators p52 and p75-lens epithelium-derived growth factor (LEDGF).
Ahuja HG, Hong J, Aplan PD, Tcheurekdjian L, Forman SJ, Slovak ML
Cancer research. 2000 ; 60 (22) : 6227-6229.
PMID 11103774
 
The inv(11)(p15q22) chromosome translocation of de novo and therapy-related myeloid malignancies results in fusion of the nucleoporin gene, NUP98, with the putative RNA helicase gene, DDX10.
Arai Y, Hosoda F, Kobayashi H, Arai K, Hayashi Y, Kamada N, Kaneko Y, Ohki M
Blood. 1997 ; 89 (11) : 3936-3944.
PMID 9166830
 
A cryptic t(5;11)(q35;p15.5) in 2 children with acute myeloid leukemia with apparently normal karyotypes, identified by a multiplex fluorescence in situ hybridization telomere assay.
Brown J, Jawad M, Twigg SR, Saracoglu K, Sauerbrey A, Thomas AE, Eils R, Harbott J, Kearney L
Blood. 2002 ; 99 (7) : 2526-2531.
PMID 11895789
 
The (4;11)(q21;p15) translocation fuses the NUP98 and RAP1GDS1 genes and is recurrent in T-cell acute lymphocytic leukemia.
Hussey DJ, Nicola M, Moore S, Peters GB, Dobrovic A
Blood. 1999 ; 94 (6) : 2072-2079.
PMID 10477737
 
A novel gene, NSD1, is fused to NUP98 in the t(5;11)(q35;p15.5) in de novo childhood acute myeloid leukemia.
Jaju RJ, Fidler C, Haas OA, Strickson AJ, Watkins F, Clark K, Cross NC, Cheng JF, Aplan PD, Kearney L, Boultwood J, Wainscoat JS
Blood. 2001 ; 98 (4) : 1264-1267.
PMID 11493482
 
A new recurrent translocation, t(5;11)(q35;p15.5), associated with del(5q) in childhood acute myeloid leukemia. The UK Cancer Cytogenetics Group (UKCCG)
Jaju RJ, Haas OA, Neat M, Harbott J, Saha V, Boultwood J, Brown JM, Pirc-Danoewinata H, Krings BW, Müller U, Morris SW, Wainscoat JS, Kearney L
Blood. 1999 ; 94 (2) : 773-780.
PMID 10397745
 
NUP98 gene fusions in hematologic malignancies.
Lam DH, Aplan PD
Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K. 2001 ; 15 (11) : 1689-1695.
PMID 11681408
 
NUP98 is fused to PMX1 homeobox gene in human acute myelogenous leukemia with chromosome translocation t(1;11)(q23;p15).
Nakamura T, Yamazaki Y, Hatano Y, Miura I
Blood. 1999 ; 94 (2) : 741-747.
PMID 10397741
 
The vertebrate GLFG nucleoporin, Nup98, is an essential component of multiple RNA export pathways.
Powers MA, Forbes DJ, Dahlberg JE, Lund E
The Journal of cell biology. 1997 ; 136 (2) : 241-250.
PMID 9015297
 
NUP98-HOXD13 gene fusion in therapy-related acute myelogenous leukemia.
Raza-Egilmez SZ, Jani-Sait SN, Grossi M, Higgins MJ, Shows TB, Aplan PD
Cancer research. 1998 ; 58 (19) : 4269-4273.
PMID 9766650
 

Citation

This paper should be referenced as such :
Kearney, L
NUP98 (nucleoporin 98 kDa)
Atlas Genet Cytogenet Oncol Haematol. 2002;6(3):193-196.
Free journal version : [ pdf ]   [ DOI ]
History of this paper:
Jean-Loup Huret. NUP98 (nucleoporin 98 kDa). Atlas Genet Cytogenet Oncol Haematol. 1998;2(1):7-7.
http://documents.irevues.inist.fr/bitstream/handle/2042/32093/01-1998-NUPID98.pdf
Huret, JL. NUP98 (nucleoporin 98 kDa). Atlas Genet Cytogenet Oncol Haematol. 1999;3(1):15-16.
http://documents.irevues.inist.fr/bitstream/handle/2042/37478/11-1998-NUP98.pdf
Huret, JL. NUP98 (nucleoporin 98 kDa). Atlas Genet Cytogenet Oncol Haematol. 2000;4(1):14-15.
http://documents.irevues.inist.fr/bitstream/handle/2042/37583/02-2000-NUP98.pdf


Other Leukemias implicated (Data extracted from papers in the Atlas) [ 40 ]
  11p15 rearrangements (NUP98) in treatment related leukemia
8p11 myeloproliferative syndrome (FGFR1)
del(20q) in myeloid malignancies
inv(11)(p15q22) NUP98::DDX10::t(11;11)(p15;q22) NUP98::DDX10
inv(11)(p15q23) NUP98::KMT2A
t(1;11)(q24;p15) NUP98::PRRX1
t(2;11)(q31;p15) NUP98::HOXD13::t(2;11)(q31;p15) NUP98::HOXD11
t(3;11)(p11;p15) NUP98::POU1F1
t(3;11)(p25;p15) ANKRD28::NUP98
t(3;11)(q12;p15) NUP98::LNP1
t(3;11)(q29;p15) NUP98::IQCG
t(4;11)(q21;p15) NUP98::RAP1GDS1
t(4;11)(q23;p15) NUP98::RAP1GDS1
t(5;11)(q35;p15.5) NUP98::NSD1
t(6;11)(q24.1;p15.5) NUP98::CCDC28A
t(7;9)(q11;p12) PAX5::POM121
t(7;11)(p15;p15) NUP98::HOXA9
t(7;11)(p15;p15) NUP98::HOXA13
t(8;11)(p11;p15) NUP98::WHSC1L1
t(8;11)(p12;p15) ?::FGFR1
t(9;11)(p22;p15) NUP98::PSIP1
t(9;11)(q34;p15) NUP98::PRRX2
t(X;11)(q28;p15) NUP98::HMGB3
t(10;11)(q25;p15) NUP98::ADD3
t(11;12)(p15;q13) NUP98::HOXC11::t(11;12)(p15;q13) NUP98::HOXC13
t(11;12)(p15;p13) NUP98::KDM5A
t(11;17)(p15;p13) NUP98::PHF23
t(11;17)(p15;q21) NUP98::?
t(11;18)(p15;q12) NUP98::SETBP1
t(11;20)(p15;q11) NUP98::TOP1
t(17;21)(q11.2;q22) RUNX1::?
T-lineage acute lymphoblastic leukemia (T-ALL)
t(3;11)(p24;p15) NUP98::TOP2B
t(7;11)(p15;p15) NUP98::HOXA11
t(8;11)(p12;p15) NUP98::NSD3
t(10;11)(q23;p15) NUP98::HHEX
t(11;11)(p15;q23) NUP98::CADM1
t(11;12)(p15;q13) NUP98::HOXC13
t(11;12)(p15;q13) NUP98::RARG
t(11;17)(p15;q24) NUP98::BPTF


External links

Nomenclature
HGNC (Hugo)NUP98   8068
Cards
AtlasNUPID98
Entrez_Gene (NCBI)NUP98    nucleoporin 98 and 96 precursor
AliasesADIR2; NUP196; NUP96; Nup98-96
GeneCards (Weizmann)NUP98
Ensembl hg19 (Hinxton)ENSG00000110713 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000110713 [Gene_View]  ENSG00000110713 [Sequence]  chr11:3675019-3797554 [Contig_View]  NUP98 [Vega]
ICGC DataPortalENSG00000110713
TCGA cBioPortalNUP98
AceView (NCBI)NUP98
Genatlas (Paris)NUP98
SOURCE (Princeton)NUP98
Genetics Home Reference (NIH)NUP98
Genomic and cartography
GoldenPath hg38 (UCSC)NUP98  -     chr11:3675019-3797554 -  11p15.4   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)NUP98  -     11p15.4   [Description]    (hg19-Feb_2009)
GoldenPathNUP98 - 11p15.4 [CytoView hg19]  NUP98 - 11p15.4 [CytoView hg38]
ImmunoBaseENSG00000110713
Genome Data Viewer NCBINUP98 [Mapview hg19]  
OMIM601021   
Gene and transcription
Genbank (Entrez)AB040538 AF071076 AF071077 AF116074 AF231130
RefSeq transcript (Entrez)NM_001365125 NM_001365126 NM_001365127 NM_001365128 NM_001365129 NM_005387 NM_016320 NM_139131 NM_139132
Consensus coding sequences : CCDS (NCBI)NUP98
Gene ExpressionNUP98 [ NCBI-GEO ]   NUP98 [ EBI - ARRAY_EXPRESS ]   NUP98 [ SEEK ]   NUP98 [ MEM ]
Gene Expression Viewer (FireBrowse)NUP98 [ Firebrowse - Broad ]
GenevisibleExpression of NUP98 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)4928
GTEX Portal (Tissue expression)NUP98
Human Protein AtlasENSG00000110713-NUP98 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)NUP98
Human Protein Atlas [tissue]ENSG00000110713-NUP98 [tissue]
HPRD03012
Protein Interaction databases
BioGRIDNUP98
STRING (EMBL)NUP98
ZODIACNUP98
Ontologies - Pathways
Litterature
PubMed235 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXNUP98
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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