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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: 39284

FusionGeneSummary for TPX2_DEFB123

check button Fusion gene summary
Fusion gene informationFusion gene name: TPX2_DEFB123
Fusion gene ID: 39284
HgeneTgene
Gene symbol

TPX2

DEFB123

Gene ID

22974

245936

Gene nameTPX2, microtubule nucleation factordefensin beta 123
SynonymsC20orf1|C20orf2|DIL-2|DIL2|FLS353|GD:C20orf1|HCA519|HCTP4|REPP86|p100DEFB-23|DEFB23|ESC42-RELD
Cytomap

20q11.21

20q11.21

Type of geneprotein-codingprotein-coding
Descriptiontargeting protein for Xklp2TPX2, microtubule-associated protein homologTPX2, microtubule-associated, homologdifferentially expressed in cancerous and non-cancerous lung cells 2differentially expressed in lung cellshepatocellular carcinoma-associated beta-defensin 123beta defensin 23specific to testis and epididymis
Modification date2018051920180329
UniProtAcc

Q9ULW0

Q8N688

Ensembl transtripts involved in fusion geneENST00000340513, ENST00000300403, 
ENST00000376309, 
Fusion gene scores* DoF score14 X 8 X 12=13447 X 1 X 8=56
# samples 2310
** MAII scorelog2(23/1344*10)=-2.54682737183439
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(10/56*10)=0.836501267717121
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: TPX2 [Title/Abstract] AND DEFB123 [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
HgeneTPX2

GO:0032147

activation of protein kinase activity

14580337|19801554

HgeneTPX2

GO:0090307

mitotic spindle assembly

26165940


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-AN-A04A-01ATPX2chr20

30330450

+DEFB123chr20

30037832

+
TCGARVTGCTTCGA-VF-A8AA-01ATPX2chr20

30330450

+DEFB123chr20

30037832

+
TCGARVUCECTCGA-EO-A1Y7-01ATPX2chr20

30359485

+DEFB123chr20

30037832

+
TCGARVUCSTCGA-N5-A4RT-01ATPX2chr20

30371724

+DEFB123chr20

30037832

+
* 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
5UTR-3CDSENST00000340513ENST00000376309TPX2chr20

30330450

+DEFB123chr20

30037832

+
5UTR-3CDSENST00000300403ENST00000376309TPX2chr20

30330450

+DEFB123chr20

30037832

+
Frame-shitENST00000340513ENST00000376309TPX2chr20

30359485

+DEFB123chr20

30037832

+
Frame-shitENST00000300403ENST00000376309TPX2chr20

30359485

+DEFB123chr20

30037832

+
Frame-shitENST00000340513ENST00000376309TPX2chr20

30371724

+DEFB123chr20

30037832

+
Frame-shitENST00000300403ENST00000376309TPX2chr20

30371724

+DEFB123chr20

30037832

+

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FusionProtFeatures for TPX2_DEFB123


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
TPX2

Q9ULW0

DEFB123

Q8N688

Spindle assembly factor required for normal assembly ofmitotic spindles. Required for normal assembly of microtubulesduring apoptosis. Required for chromatin and/or kinetochoredependent microtubule nucleation. Mediates AURKA localization tospindle microtubules (PubMed:18663142, PubMed:19208764). ActivatesAURKA by promoting its autophosphorylation at 'Thr-288' andprotects this residue against dephosphorylation (PubMed:18663142,PubMed:19208764). TPX2 is inactivated upon binding to importin-alpha (PubMed:26165940). At the onset of mitosis, GOLGA2 interactswith importin-alpha, liberating TPX2 from importin-alpha, allowingTPX2 to activates AURKA kinase and stimulates local microtubulenucleation (PubMed:26165940). {ECO:0000269|PubMed:18663142,ECO:0000269|PubMed:19208764, ECO:0000269|PubMed:26165940}. Has antibacterial activity. {ECO:0000305}.

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 TPX2_DEFB123


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 TPX2_DEFB123


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
TPX2AURKA, FZR1, KPNA1, KPNB1, HMMR, BRCA1, SIAH2, ZNF598, NDUFA7, THUMPD2, DNAJC8, MRPL53, SERPINH1, UBE2S, PPIF, SARNP, TWF1, SCAMP3, CDK6, IKBKB, CHUK, IKBKG, AURKB, LMNA, HDAC9, THAP11, NAP1L1, RPA3, RPA2, RPA1, GOLGA2, MAPK14, GSTM3, HIST1H2BG, AFAP1, SAP130, RBPJ, CDC5L, RNF111DEFB123


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 TPX2_DEFB123


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 TPX2_DEFB123


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource