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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 25184

FusionGeneSummary for NUP153_GCNT2

check button Fusion gene summary
Fusion gene informationFusion gene name: NUP153_GCNT2
Fusion gene ID: 25184
HgeneTgene
Gene symbol

NUP153

GCNT2

Gene ID

9972

2651

Gene namenucleoporin 153glucosaminyl (N-acetyl) transferase 2 (I blood group)
SynonymsHNUP153|N153CCAT|CTRCT13|GCNT2C|GCNT5|IGNT|II|NACGT1|NAGCT1|ULG3|bA360O19.2|bA421M1.1
Cytomap

6p22.3

6p24.3-p24.2

Type of geneprotein-codingprotein-coding
Descriptionnuclear pore complex protein Nup153153 kDa nucleoporinnuclear pore complex protein hnup153nucleoporin 153kDnucleoporin 153kDanucleoporin Nup153N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferaseI beta-1,6-N-acetylglucosaminyltransferaseIi blood groupbeta-1,6-N-acetylglucosaminyltransferase 2glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)
Modification date2018052720180519
UniProtAcc

P49790

Q8N0V5

Ensembl transtripts involved in fusion geneENST00000262077, ENST00000537253, 
ENST00000410107, ENST00000397423, 
ENST00000495262, ENST00000379597, 
ENST00000316170, ENST00000265012, 
Fusion gene scores* DoF score10 X 7 X 8=5608 X 7 X 4=224
# samples 118
** MAII scorelog2(11/560*10)=-2.34792330342031
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(8/224*10)=-1.48542682717024
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: NUP153 [Title/Abstract] AND GCNT2 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotation
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneNUP153

GO:0046832

negative regulation of RNA export from nucleus

22253824


check button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* All genome coordinats were lifted-over on hg19.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGARVBRCATCGA-B6-A0IA-01ANUP153chr6

17688627

-GCNT2chr6

10493053

+
TCGALDBRCATCGA-B6-A0IA-01ANUP153chr6

17688627

-GCNT2chr6

10509320

+
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
5CDS-5UTRENST00000262077ENST00000410107NUP153chr6

17688627

-GCNT2chr6

10493053

+
5CDS-intronENST00000262077ENST00000397423NUP153chr6

17688627

-GCNT2chr6

10493053

+
5CDS-intronENST00000262077ENST00000495262NUP153chr6

17688627

-GCNT2chr6

10493053

+
5CDS-intronENST00000262077ENST00000379597NUP153chr6

17688627

-GCNT2chr6

10493053

+
5CDS-intronENST00000262077ENST00000316170NUP153chr6

17688627

-GCNT2chr6

10493053

+
5CDS-intronENST00000262077ENST00000265012NUP153chr6

17688627

-GCNT2chr6

10493053

+
5CDS-5UTRENST00000537253ENST00000410107NUP153chr6

17688627

-GCNT2chr6

10493053

+
5CDS-intronENST00000537253ENST00000397423NUP153chr6

17688627

-GCNT2chr6

10493053

+
5CDS-intronENST00000537253ENST00000495262NUP153chr6

17688627

-GCNT2chr6

10493053

+
5CDS-intronENST00000537253ENST00000379597NUP153chr6

17688627

-GCNT2chr6

10493053

+
5CDS-intronENST00000537253ENST00000316170NUP153chr6

17688627

-GCNT2chr6

10493053

+
5CDS-intronENST00000537253ENST00000265012NUP153chr6

17688627

-GCNT2chr6

10493053

+
5CDS-5UTRENST00000262077ENST00000410107NUP153chr6

17688627

-GCNT2chr6

10509320

+
5CDS-intronENST00000262077ENST00000397423NUP153chr6

17688627

-GCNT2chr6

10509320

+
5CDS-intronENST00000262077ENST00000495262NUP153chr6

17688627

-GCNT2chr6

10509320

+
5CDS-intronENST00000262077ENST00000379597NUP153chr6

17688627

-GCNT2chr6

10509320

+
5CDS-intronENST00000262077ENST00000316170NUP153chr6

17688627

-GCNT2chr6

10509320

+
5CDS-intronENST00000262077ENST00000265012NUP153chr6

17688627

-GCNT2chr6

10509320

+
5CDS-5UTRENST00000537253ENST00000410107NUP153chr6

17688627

-GCNT2chr6

10509320

+
5CDS-intronENST00000537253ENST00000397423NUP153chr6

17688627

-GCNT2chr6

10509320

+
5CDS-intronENST00000537253ENST00000495262NUP153chr6

17688627

-GCNT2chr6

10509320

+
5CDS-intronENST00000537253ENST00000379597NUP153chr6

17688627

-GCNT2chr6

10509320

+
5CDS-intronENST00000537253ENST00000316170NUP153chr6

17688627

-GCNT2chr6

10509320

+
5CDS-intronENST00000537253ENST00000265012NUP153chr6

17688627

-GCNT2chr6

10509320

+

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FusionProtFeatures for NUP153_GCNT2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
NUP153

P49790

GCNT2

Q8N0V5

Component of the nuclear pore complex (NPC), a complexrequired for the trafficking across the nuclear envelope.Functions as a scaffolding element in the nuclear phase of the NPCessential for normal nucleocytoplasmic transport of proteins andmRNAs. Involved in the quality control and retention of unsplicedmRNAs in the nucleus; in association with TPR, regulates thenuclear export of unspliced mRNA species bearing constitutivetransport element (CTE) in a NXF1- and KHDRBS1-independent manner.Mediates TPR anchoring to the nuclear membrane at NPC. The repeat-containing domain may be involved in anchoring other components ofthe NPC to the pore membrane. Possible DNA-binding subunit of thenuclear pore complex (NPC). {ECO:0000269|PubMed:12802065,ECO:0000269|PubMed:15229283, ECO:0000269|PubMed:22253824}. Branching enzyme that converts linear into branchedpoly-N-acetyllactosaminoglycans. Introduces the blood group Iantigen during embryonic development. It is closely associatedwith the development and maturation of erythroid cells.{ECO:0000269|PubMed:7579796, ECO:0000269|PubMed:8449405}. Isoform C: Determines the expression of the blood groupI antigen in erythrocytes. {ECO:0000269|PubMed:12468428}.

check buttonRetention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at

download page

.

* Minus value of BPloci means that the break pointn is located before the CDS.
- In-frame and retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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FusionGeneSequence for NUP153_GCNT2


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for NUP153_GCNT2


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page

.

check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors
NUP153NUTF2, BRCA1, TPR, TRN-GTT2-1, KPNB1, RAN, XPO1, NXF2, NUP50, XPO5, SENP2, IPO5, USP11, USP20, APC, MYC, MAPK1, MAPK3, SMAD3, XPO7, SIRT7, CTNNB1, RANBP2, CUL3, NUP107, NUP54, PNPT1, DPY30, EEF1B2, MEA1, CSTF2, FIP1L1, PRKCSH, EIF4B, NCAPD2, C1QBP, ESR1, LMNA, HDAC11, OBSL1, NUP153, EGFR, NUP62, NUSAP1, TDP1, PPP1CC, PPP1CA, G3BP2, IER2, FBXW11, IFI16, NXF1, NUP43, NUP85, NUP133, NUP160, NUP35, HERC2, CLK1, B9D2, CENPC, RCC1, GLE1, KIFC1, KPNA1, KPNA2, KPNA3, KPNA4, TNPO1, MCM4, NUP88, NUP98, RANGAP1, SMARCC2, SMARCD2, SMARCE1, SUMO2, UBE2I, SUMO1, NUP214, AAAS, RAE1, NUP155, NUP93, POM121, SEH1L, IPO7, NUPL2, NUP205, NUP210, NUP188, KPNA6, CNOT10, SENP1, TMEM214, SMPD4, NDC1, KLHL7, NUP37, PPP1R3B, TMEM209, CDCA2, RGPD8, POM121C, SNW1, CTDSPL2, PPM1D, SREK1IP1, TSR1, FOXA1GCNT2PARK2, ATP2A1, METTL9, GHITM, COL14A1, TRIM68, FAM3C, HLA-DPB1, TMEM79, TRIM25


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for NUP153_GCNT2


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for NUP153_GCNT2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneGCNT2C3805373CATARACT 13 WITH ADULT i PHENOTYPE1UNIPROT