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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: 25250

FusionGeneSummary for NUP93_GPT2

check button Fusion gene summary
Fusion gene informationFusion gene name: NUP93_GPT2
Fusion gene ID: 25250
HgeneTgene
Gene symbol

NUP93

GPT2

Gene ID

9688

84706

Gene namenucleoporin 93glutamic--pyruvic transaminase 2
SynonymsNIC96ALT2|GPT 2|MRT49
Cytomap

16q13

16q11.2

Type of geneprotein-codingprotein-coding
Descriptionnuclear pore complex protein Nup9393 kDa nucleoporinnucleoporin 93kDanucleoporin Nup93alanine aminotransferase 2glutamate pyruvate transaminase 2glutamic pyruvate transaminase (alanine aminotransferase) 2glutamic pyruvate transaminase 2glutamic--alanine transaminase 2
Modification date2018052320180519
UniProtAcc

Q8N1F7

Q8TD30

Ensembl transtripts involved in fusion geneENST00000308159, ENST00000569842, 
ENST00000564887, ENST00000569595, 
ENST00000542526, 
ENST00000340124, 
ENST00000440783, 
Fusion gene scores* DoF score4 X 3 X 4=483 X 3 X 2=18
# samples 44
** MAII scorelog2(4/48*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(4/18*10)=1.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: NUP93 [Title/Abstract] AND GPT2 [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
HgeneNUP93

GO:0006998

nuclear envelope organization

26878725

HgeneNUP93

GO:0051292

nuclear pore complex assembly

26878725

HgeneNUP93

GO:0060391

positive regulation of SMAD protein signal transduction

26878725

HgeneNUP93

GO:0060395

SMAD protein signal transduction

26878725

TgeneGPT2

GO:0006103

2-oxoglutarate metabolic process

11863375

TgeneGPT2

GO:0042851

L-alanine metabolic process

11863375


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
TCGALDBRCATCGA-AO-A1KP-01ANUP93chr16

56873516

+GPT2chr16

46962819

+
* 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
Frame-shitENST00000308159ENST00000340124NUP93chr16

56873516

+GPT2chr16

46962819

+
Frame-shitENST00000308159ENST00000440783NUP93chr16

56873516

+GPT2chr16

46962819

+
Frame-shitENST00000569842ENST00000340124NUP93chr16

56873516

+GPT2chr16

46962819

+
Frame-shitENST00000569842ENST00000440783NUP93chr16

56873516

+GPT2chr16

46962819

+
Frame-shitENST00000564887ENST00000340124NUP93chr16

56873516

+GPT2chr16

46962819

+
Frame-shitENST00000564887ENST00000440783NUP93chr16

56873516

+GPT2chr16

46962819

+
intron-3CDSENST00000569595ENST00000340124NUP93chr16

56873516

+GPT2chr16

46962819

+
intron-3CDSENST00000569595ENST00000440783NUP93chr16

56873516

+GPT2chr16

46962819

+
Frame-shitENST00000542526ENST00000340124NUP93chr16

56873516

+GPT2chr16

46962819

+
Frame-shitENST00000542526ENST00000440783NUP93chr16

56873516

+GPT2chr16

46962819

+

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FusionProtFeatures for NUP93_GPT2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
NUP93

Q8N1F7

GPT2

Q8TD30

Plays a role in the nuclear pore complex (NPC) assemblyand/or maintenance (PubMed:9348540). May anchor nucleoporins, butnot NUP153 and TPR, to the NPC. During renal development,regulates podocyte migration and proliferation through SMAD4signaling (PubMed:26878725). {ECO:0000269|PubMed:15229283,ECO:0000269|PubMed:15703211, ECO:0000269|PubMed:26878725,ECO:0000269|PubMed:9348540}. Catalyzes the reversible transamination between alanineand 2-oxoglutarate to form pyruvate and glutamate.{ECO:0000269|PubMed:11863375}.

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 NUP93_GPT2


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 NUP93_GPT2


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
NUP93PHLDA3, GIPC1, CASP4, PNKP, NEK6, TSC22D1, PHB2, BRF2, MYC, TPR, PAN2, RAE1, AIRE, CLN3, RYK, HDAC5, PIDD1, ELAVL1, SIRT7, CUL3, NXF1, TLN2, ECT2, VCAM1, ITGA4, AICDA, SOX2, HDAC9, HDAC11, ADRB2, BAG3, NUP62, EGFR, FBXO6, CUL7, OBSL1, CCDC8, SUZ12, EED, RNF2, KCMF1, FGG, MTPN, NUP205, NUP188, UBA1, UBA6, UCHL3, NTRK1, SCARNA22, KRAS, IFI16, NUP35, KPNB1, UBE2I, XRCC3, NUPL1, NUP153, NUP107, SEH1L, CDC5L, SENP3, RNF126, OTUB1, BMI1, CTDSPL2, DLST, PDHA1, SOD1, BRCA1, TESGPT2USP20, BABAM1, CUL3, APP, GPHA2, ADSL, AHCY, CCBL2, CFL1, GOT1, GPD1L, SOD2, THEM4, PLA2G10


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 NUP93_GPT2


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneGPT2Q8TD30DB00780PhenelzineAlanine aminotransferase 2small moleculeapproved
TgeneGPT2Q8TD30DB00114Pyridoxal PhosphateAlanine aminotransferase 2small moleculeapproved|investigational|nutraceutical
TgeneGPT2Q8TD30DB00142Glutamic AcidAlanine aminotransferase 2small moleculeapproved|nutraceutical

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RelatedDiseases for NUP93_GPT2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneNUP93C1868672NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE1CTD_human
HgeneNUP93C4225166NEPHROTIC SYNDROME, TYPE 121UNIPROT
TgeneGPT2C4225388MENTAL RETARDATION, AUTOSOMAL RECESSIVE 491UNIPROT