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NUP98 Gene

protein-coding   GIFtS: 66

GC11M003652
nucleoporin 98kDa
(Previous name: nucleoporin 98kD )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section

Aliases
ADAR2 3
ADIR2 2
NUP196 2
NUP96 1, 2
Nup98-Nup96 2
OTTHUMP00000013819 2
OTTHUMP00000013967 2
Descriptions
GLFG-repeat containing nucleoporin 2
nucleoporin 98kD 1, 2
nucleoporin 98kDa 2
External Ids
HGNC: 80681
Entrez Gene: 49282
UniProtKB: P529483
Ensembl: ENSG000001107137
Search outside databases for aliases for NUP98 gene

Previous GC identifers: GC11M004267 GC11M003962 GC11M003655 GC11M003660

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

EntrezGene summary for NUP98:
Signal-mediated nuclear import and export proceed through the nuclear pore complex (NPC), which is
comprised of approximately 50 unique proteins collectively known as nucleoporins. The 98 kD
nucleoporin is generated through a biogenesis pathway that involves synthesis and proteolytic
cleavage of a 186 kD precursor protein. This cleavage results in the 98 kD nucleoporin as well as
a 96 kD nucleoporin, both of which are localized to the nucleoplasmic side of the NPC. Rat studies
show that the 98 kD nucleoporin functions as one of several docking site nucleoporins of transport
substrates. The human gene has been shown to fuse to several genes following chromsome
translocatons in acute myelogenous leukemia (AML) and T-cell acute lymphocytic leukemia (T-ALL).
This gene is one of several genes located in the imprinted gene domain of 11p15.5, an important
tumor-suppressor gene region. Alterations in this region have been associated with the
Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocortical carcinoma, and lung,
ovarian, and breast cancer. Alternative splicing of this gene results in several transcript
variants; however, not all variants have been fully described. [provided by RefSeq]

UniProtKB/Swiss-Prot: NUP98_HUMAN, P52948
Function: Nup98 and Nup96 play a role in the bidirectional transport across the nucleoporin complex
(NPC). The repeat domain in Nup98 has a direct role in the transport

Gene Wiki entry for NUP98

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the NUP98 gene  

Entrez Gene cytogenetic band: 11p15.5   Ensembl cytogenetic band:  11p15.4   HGNC cytogenetic band: 11p15

NUP98 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M003652:     (about GC identifiers)

Start:
3,652,816 bp from pter
End:
3,775,468 bp from pter
Size:
122,653 bases
Orientation:
minus strand
RefSeq DNA sequence:
NC_000011.8  NT_009237.17  
(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
About This Section

UniProtKB/Swiss-Prot: NUP98_HUMAN, P52948 (See protein sequence)
Recommended Name: Nuclear pore complex protein Nup98-Nup96 precursor  
Size: 1729 amino acids; 187790 Da
Subunit: Nup98 interacts directly with Nup96. Nup96 is 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. May interact with RAE1. Interacts with
vesicular stomatitis virus protein M
Subcellular location: Nucleus, nuclear pore complex. Nucleus membrane; Peripheral membrane protein;
Nucleoplasmic side. Note=Nup96 is localized to the nucleoplasmic side of the nuclear pore complex,
at or near the nucleoplasmic basket
Sequence caution: Sequence=AAF19342.1; Type=Frameshift; Positions=1551;
PDB structures from and Proteopedia :
1KO6 (3D)    2Q5X (3D)    2Q5Y (3D)    
Secondary accessions: Q8IUT2 Q8WYB0 Q96E54 Q9H3Q4 Q9NT02 Q9UF57 Q9UHX0 Q9Y6J4 Q9Y6J5
Alternative splicing: 5 isoforms:  P52948-1   P52948-2   P52948-3   P52948-4   P52948-5   

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 Nup961
  • View phosphorylation sites using PhosphoSite2


  • REFSEQ proteins (4 alternative transcripts): 
    NP_005378.4  NP_057404.2  NP_624357.1  NP_624358.2  


    ENSEMBL proteins: 
    ENSP00000380202 ENSP00000380213 ENSP00000347404 ENSP00000380199 ENSP00000380208 ENSP00000352091 
    ENSP00000316032 


    Human Recombinant Proteins 
    Browse Drug Discovery Central at Invitrogen for human recombinant proteins
    Browse Purified and Recombinant Proteins at Millipore
    Browse Human Recombinant Proteins at Sigma-Aldrich  
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Recombinant Proteins from Abcam (NUP98)
    Human Recombinant Proteins from Abnova (NUP98)
                    Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 

    5 Gene Ontology (GO) cellular component terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634 nucleus IEA--
    GO:0005643 nuclear pore NAS10087256
    GO:0005654 nucleoplasm TAS7736573
    GO:0016020 membrane IEA--
    GO:0031965 nuclear membrane IEA--
    About this table

    Antibodies for NUP98: 
    Browse Antibodies Central at Invitrogen
    Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Sigma-Aldrich Antibodies for NUP98
    Browse R&D Systems for Antibodies
    Cell Signaling Technology (CST) Antibodies for NUP98 
    Antibodies from Abcam (NUP98), each with their AbpromiseSM
    Monoclonal and Polyclonal Antibodies from Abnova (NUP98)
    Novus Biologicals Antibodies for NUP98

    Assays for NUP98: 
    Browse Invitrogen for biochemical assays
    Browse Kits and Assays available from Millipore
    Browse R&D Systems for biochemical assays
    Browse biochemical assays available from Enzo Life Sciences

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    1 InterPro domain/family:
     IPR007230 Peptidase_S59


       GeneDecks  NUP98 for the domains selected above  
    About GeneDecksing

    Graphical View of Domain Structure for InterPro Entry P52948

    ProtoNet protein and cluster: P52948

    1 Blocks protein family: IPB007230 Nucleoporin autopeptidase

    UniProtKB/Swiss-Prot: NUP98_HUMAN, P52948
    Domain: Contains G-L-F-G repeats
    Similarity: Belongs to the nucleoporin GLFG family
    Similarity: Contains 1 peptidase S59 domain

    (According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
    RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (NUP98)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (NUP98)
                   OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 4): NM_139131

                  Applied Biosystems Silencer® siRNAs for NUP98

                  Sigma-Aldrich siRNA and siRNA Panels for NUP98  
                         Sigma-Aldrich shRNA for NUP98  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Clones:Invitrogen Clones for NUP98
    Browse Clones for the Expression of Recombinant Proteins Available from Millipore
                   OriGene GFP tagged cDNA clones in CMV expression vector (see all 4): NM_005387
                                     Myc/DDK tagged cDNA clones in CMV expression vector (see all 4): NM_005387
                                     untagged cDNA clones in CMV expression vector (see all 4): NM_005387 

    Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
                  OriGene genome-wide validated SYBR primer pairs: NM_016320

    UniProtKB/Swiss-Prot: NUP98_HUMAN, P52948
    Function: Nup98 and Nup96 play a role in the bidirectional transport across the nucleoporin complex
    (NPC). The repeat domain in Nup98 has a direct role in the transport

    Genatlas biochemistry entry for NUP98:
    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

    5 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Nup98):

    embryogenesisgrowth/sizehematopoietic systemimmune systemlethality-prenatal/perinatal

    3 Gene Ontology (GO) molecular function terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005215 transporter activity TAS7736573
    GO:0005515 protein binding IPI9348540
    GO:0017056 structural constituent of nuclear pore NAS9348540
    About this table

    (Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
    Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section

    1 Invitrogen iPath™ Online BioAtlas - Pathway for NUP98 (Maps provided by GeneGo):
     RAN regulation pathway

       GeneDecks  NUP98 for the pathways selected above  
    About GeneDecksing

     Gene Network CentralTM Interacting Genes and Proteins Network for  NUP98 


    5/152 Interacting proteins for NUP98 (ENSP000003160323 P529481, 2) via UniProtKB, MINT, and/or STRING (see all 152 )
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SNUPNENSP000003601323STRING (score=.904) STRING (score=.899)
    NXF1Q9UBU92STRING (score=.996) MINT-15768
    MOBKL1BQ9H8S91EBI-295727, EBI-748229
    QRICH2Q9H0J41EBI-295727, EBI-1053637
    RAE1ENSP000003602863STRING (score=.999)
    About this table

    5/8 Gene Ontology (GO) biological process terms (links to tree view) (see all 8 ):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000059 protein import into nucleus, docking NAS15229283
    GO:0006260 DNA replication IMP9348540
    GO:0006913 nucleocytoplasmic transport TAS9348540
    GO:0006999 nuclear pore organization NAS9348540
    GO:0015031 protein transport IEA--
    About this table
    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section

    Browse drugs & compounds from Enzo Life Sciences
    Browse Small Molecules at Sigma-Aldrich

    Browse Tocris compounds for NUP98
    2 Novoseek chemical compound relationships for NUP98 gene
    Compound   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    deguelin 74.30 8 16174445 (4), 17650673 (4)
    gtp 17.65 1 10875935 (1)
    About this table

    2 PharmGKB drug compound relationships for NUP98 gene
    Drug compound PharmGKB Relations PubMed IDs for articles supporting these relationships
    mercaptopurinePD  FA  GN  12704389
    methotrexatePD  FA  GN  12704389
    About this table


    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Invitrogen, Millipore, and/or Abnova,
    siRNAs from Applied Biosystems, Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene,
    Tagged/untagged cDNA clones from OriGene,
    Expression Assays from Applied Biosystems)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (NUP98)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (NUP98)
                   OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 4): NM_139131

                  Sigma-Aldrich siRNA and siRNA Panels for NUP98  
                         Sigma-Aldrich shRNA for NUP98  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Applied Biosystems Silencer® siRNAs: 

    NM_005387  NM_016320  NM_139131  NM_139132  

    REFSEQ mRNAs for NUP98 gene (4 alternative transcripts): 

    NM_005387.4   NM_016320.3   NM_139131.2   NM_139132.2   

    Applied Biosystems TaqMan ® Gene Expression Assays: 

    NM_005387  NM_016320  NM_139131  NM_139132  

                   OriGene GFP tagged cDNA clones in CMV expression vector (see all 4): NM_005387
                                     Myc/DDK tagged cDNA clones in CMV expression vector (see all 4): NM_005387
                                     untagged cDNA clones in CMV expression vector (see all 4): NM_005387 

    Additional cDNA sequence: 

    AB040538.1 AF071076.1 AF071077.1 AF116074.1 AF231130.1 AK292882.1 AK301512.1 AL133601.1 
    AL137613.1 BC012906.1 BC041136.1 BT007349.1 CR591489.1 U41815.1 

    24/27 DOTS entries (see all 27 ):

    DT.117788  DT.95305850  DT.100745542  DT.91769481  DT.100801254  DT.97809667  DT.100801237  DT.95305846 
    DT.91769485  DT.92040153  DT.120744135  DT.120744288  DT.120744689  DT.86852639  DT.86853246  DT.91769490 
    DT.95318918  DT.100739046  DT.120744398  DT.75101527  DT.91769491  DT.91769492  DT.95182995  DT.91731843 

    24/347 AceView cDNA sequences (see all 347 ):

    AI688252 CA309884 CF529822 BX100390 BQ017277 CA425764 BU740255 BM669479 
    CA313022 AA911168 AI811431 AA628304 AW296195 BQ063272 BQ009431 BM068860 
    CB216507 AI741120 AW102986 CF541172 CO247236 AA612909 BG763331 CD369751 

    highest scoring ESTs for NUP98:

    BG773331 BI462442 BI823848 BM828729 BX423204 BX439931 AB040538 AF071076 AF071077 AF231130 

    Unigene Cluster for NUP98:

    Nucleoporin 98kDa
    Hs.524750  [show with all ESTs]
    Unigene Representative Sequence: NM_016320


    GeneLoc Exon Structure

    5/13 Alternative Splicing Database (ASD) splice patterns (SP) for NUP98 (see all 13 )

    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:                                                                                                                                                            

    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:                                                                                                                                                            

    ExUns: 34a · 34b · 34c · 34d
    SP1:                        
    SP2:                        
    SP3:                        
    SP4:                        
    SP5:                        

    About this scheme

    ECgene alternative splicing isoforms for NUP98

    7 Ensembl transcripts including schematic representations:
    ENST00000397007  ENST00000397018  ENST00000355260  ENST00000397004  ENST00000397013  ENST00000359171  
    ENST00000324932  
    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Expression Assays from Applied Biosystems )
    About This Section

    NUP98 expression in normal and diseased human tissues

     Applied Biosystems TaqMan ® Gene Expression Assays for NUP98

    1 / 2 / 3

    10 probe-sets matching NUP98 gene


    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank

    39024_at2, 3 U95-A 1 1.00 1.00 0.88 1.17 AF042357 0.60 1.00 0.82 1

    38911_at2, 3 U95-A 1 1.00 1.00 0.74 0.91 U41815 0.80 0.88 0.84 1
    88191_at2, 3 U95-E 1 0.75 1.00 0.85 0.92 AA167378 0.60 1.00 0.82 1

    210793_s_at2, 3 U133-A 1 1.00 1.00 -- -- U41815 0.80 0.88 0.84 1

    203195_s_at2, 3 U133-A 1 1.00 1.00 -- -- NM_005387 0.60 1.00 0.82 1

    203194_s_at2, 3 U133-A 1 1.00 1.00 -- -- AA527238 0.60 1.00 0.82 1

    210793_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    203195_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    203194_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    1555789_s_at2 U133Plus2 2 0.82 0.41 -- -- -- -- -- -- --
    GeneDecks  NUP98 for binary patterns associated with the probe-sets selected above  
    About GeneDecksing
    About this table    
    Data from (Publications) and GNF BioGPS
        About these images
    About these images

    CGAP SAGE TAG: AAGATAATGT

    SOURCE GeneReport for Unigene cluster: Hs.524750

    Expression variation in blood from EXPOLDB for NUP98

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section


    Orthologs for NUP98 gene from 5/16 species (see all 16 )
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    NUP981   -- nucleoporin 98kDa 92.27(n)
    93.22(a)
    476822  XM_534026.2  XP_534026.2 
    chimpanzee
    (Pan troglodytes)
    NUP981   -- nucleoporin 98kDa 99.48(n)
    99.44(a)
    450971  XM_001158616.1  XP_001158616.1 
    cow
    (Bos taurus)
    NUP981   -- nucleoporin 98kDa 91.84(n)
    93.66(a)
    540004  XM_590836.3  XP_590836.3 
    rat
    (Rattus norvegicus)
    Nup981   -- nucleoporin 98kDa 88.88(n)
    91.43(a)
    81738  XM_574504.2  XP_574504.2 
    mouse
    (Mus musculus)
    Nup985 7 (51.50 cM) nucleoporin 98   -- BC145071 
    About this table        Species with no ortholog for NUP98

    ENSEMBL Gene Tree for NUP98
    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section

    Paralogs for NUP98 gene
    ENSG000002055782  POM121C2  POM1212  POM121L22  

    (According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
    About This Section


    10/704 NCBI SNPs in NUP98 are shown (see all 704 )
    (Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 174)
    ABGenomic DataTranscription DataAllele Frequencies
    SNP IDValidChr 11 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ------------
    rs6587311,2
    A,C,F,H,O3689536(+) GCTACC/AAAGAT 4 -- ng51 int15Minor allele frequency- A:0.48MN EU EA WA 592
    rs65784111,2
    A,C,F,H3652548(+) ATTCTA/GTTGGG 2 -- ng5112Minor allele frequency- G:0.10EU EA WA NA 1056
    rs49108181,2
    A,C,F,H3777361(+) CTACTT/CCTTTG 4 -- ng316Minor allele frequency- C:0.14EU EA WA NA 598
    rs71165401,2
    A,C,F,H3775843(+) GGCTTC/TCTAGT 4 -- ng318Minor allele frequency- T:0.02EU EA WA 830
    rs169297851,2
    F,H3689218(+) AACCTA/GGAAAC 4 -- ng51 int17Minor allele frequency- G:0.02NA EU EA WA 552
    rs354040871,2
    C,F3680357(+) CAGCTG/CTTCTC 2 E/Q mis15Minor allele frequency- C:0.04NA EU EA WA 488
    --
    rs71052071,2
    A3775995(+) AGCACA/TTTCTT 4 -- ng31 trp30--------
    --
    rs116061921,2
    H3777230(+) tcccaG/Tctgct 4 -- ng314Minor allele frequency- T:0.00EU EA WA 412
    rs71244091,2
    H3673391(+) ATAAAA/TGAAGA 2 L/H mis1 trp34Minor allele frequency- T:0.00EU EA WA 414
    rs110289571,2
    H3653330(+) TGGTGT/CTCATG 2 -- ut31 ese34Minor allele frequency- C:0.00EU EA WA 420
    About this table

    HapMap Linkage Disequilibrium images for NUP98 (up to first 250kb)

    (in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
    About This Section

    OMIM: 601021

    UniProtKB/Swiss-Prot: NUP98_HUMAN, P52948

  • 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
  • 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
  • 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
  • 10/16 Novoseek disease relationships for NUP98 gene (see all 16 )

    Disease   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    leukemogenesis 83.46 8 15193442 (1), 19380029 (1), 12810632 (1), 17442773 (1) (see all 6)
    aml childhood 73.99 5 15951287 (2), 11493482 (1), 15725483 (1), 12353270 (1)
    myelodysplastic syndromes 73.79 10 17988990 (2), 11681408 (2), 10830185 (1), 10502319 (1) (see all 8)
    hematologic malignancies 65.78 11 16467868 (1), 17988990 (1), 12183408 (1), 16419055 (1) (see all 11)
    leukemia 63.81 17 15390187 (2), 17233820 (2), 16105755 (2), 10929031 (1) (see all 14)
    t-all 63.75 12 12810632 (3), 17233820 (2), 16467868 (1), 10477737 (1) (see all 5)
    aml adult 63.53 1 12619167 (1)
    chromosomal aberrations 59.99 6 10565304 (1), 10700860 (1), 11850070 (1), 16419055 (1) (see all 6)
    myeloid leukemia 55.89 3 18604245 (1), 15454493 (1), 16028218 (1)
    hematopoietic malignancies 54.23 3 16467868 (2), 15951287 (1)
    About this table

    1 PharmGKB disease relationship for NUP98 gene
    Disease PharmGKB Relations PubMed IDs for articles supporting these relationships
    Leukemia, Lymphocytic, Acute, L1PD  FA  GN  12704389
    About this table

    Human Genome Epidemiology Navigator: NUP98 (1 document)

    (Possibly Related Articles in Doctor's Guide)
    About This Section

      --

    (in PubMed. Associations of this gene to articles via 1Novoseek, 2HGNC, 3Entrez Gene, 4UniProtKB/Swiss-Prot, 5UniProtKB/TrEMBL, 6GAD, and/or 7PharmGKB)
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    10/148 PubMed articles for NUP98 gene (see all 148 ):
    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)
    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
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    Entrez Gene: 4928 HGNC: 8068 AceView: NUP98 Ensembl:ENSG00000110713 euGenes: HUgn4928
    ECgene: NUP98 H-InvDB: NUP98
    (According to HUGE)
    About This Section

      --
    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section

    NameDescription
    ATLAS Chromosomes in Cancer entry for NUP98 Genetics and Cytogenetics in Oncology and Haematology
    (Available from WIS Yeda, Salk, Tufts)
    About This Section

      --
    (Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
    Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
    Enzo Life Sciences, and/or Tocris Bioscience)
    About This Section



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