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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: 26128

FusionGeneSummary for PBX2_TUBB4A

check button Fusion gene summary
Fusion gene informationFusion gene name: PBX2_TUBB4A
Fusion gene ID: 26128
HgeneTgene
Gene symbol

PBX2

TUBB4A

Gene ID

5089

10382

Gene namePBX homeobox 2tubulin beta 4A class IVa
SynonymsG17|HOX12|PBX2MHCDYT4|TUBB4|beta-5
Cytomap

6p21.32

19p13.3

Type of geneprotein-codingprotein-coding
Descriptionpre-B-cell leukemia transcription factor 2XXbac-BPG300A18.13homeobox 12homeobox protein PBX2pre-B-cell leukemia homeobox 2tubulin beta-4A chaindystonia 4, torsion (autosomal dominant)tubulin beta-4 chaintubulin, beta 4tubulin, beta, 5
Modification date2018052220180523
UniProtAcc

P40425

P04350

Ensembl transtripts involved in fusion geneENST00000375050, ENST00000453487, 
ENST00000549520, ENST00000551389, 
ENST00000549406, ENST00000453961, 
ENST00000553136, ENST00000547363, 
ENST00000552094, ENST00000420432, 
ENST00000553184, ENST00000550085, 
ENST00000383270, ENST00000551651, 
ENST00000546984, ENST00000550532, 
ENST00000431537, ENST00000549894, 
ENST00000548572, ENST00000546976, 
ENST00000433552, ENST00000550227, 
ENST00000549969, ENST00000548776, 
ENST00000264071, ENST00000540257, 
ENST00000601152, ENST00000598006, 
ENST00000596926, 
Fusion gene scores* DoF score3 X 3 X 1=98 X 8 X 1=64
# samples 38
** MAII scorelog2(3/9*10)=1.73696559416621
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(8/64*10)=0.321928094887362
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: PBX2 [Title/Abstract] AND TUBB4A [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
HgenePBX2

GO:0045944

positive regulation of transcription by RNA polymerase II

19356220


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
ChiTaRS3.1BI035864PBX2chr6

3504787

-TUBB4Achr19

6494533

-
* 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
intron-3UTRENST00000375050ENST00000264071PBX2chr6

3504787

-TUBB4Achr19

6494533

-
intron-3UTRENST00000375050ENST00000540257PBX2chr6

3504787

-TUBB4Achr19

6494533

-
intron-intronENST00000375050ENST00000601152PBX2chr6

3504787

-TUBB4Achr19

6494533

-
intron-intronENST00000375050ENST00000598006PBX2chr6

3504787

-TUBB4Achr19

6494533

-
intron-intronENST00000375050ENST00000596926PBX2chr6

3504787

-TUBB4Achr19

6494533

-
intron-3UTRENST00000453487ENST00000264071PBX2chr6

3504787

-TUBB4Achr19

6494533

-
intron-3UTRENST00000453487ENST00000540257PBX2chr6

3504787

-TUBB4Achr19

6494533

-
intron-intronENST00000453487ENST00000601152PBX2chr6

3504787

-TUBB4Achr19

6494533

-
intron-intronENST00000453487ENST00000598006PBX2chr6

3504787

-TUBB4Achr19

6494533

-
intron-intronENST00000453487ENST00000596926PBX2chr6

3504787

-TUBB4Achr19

6494533

-
intron-3UTRENST00000549520ENST00000264071PBX2chr6

3504787

-TUBB4Achr19

6494533

-
intron-3UTRENST00000549520ENST00000540257PBX2chr6

3504787

-TUBB4Achr19

6494533

-
intron-intronENST00000549520ENST00000601152PBX2chr6

3504787

-TUBB4Achr19

6494533

-
intron-intronENST00000549520ENST00000598006PBX2chr6

3504787

-TUBB4Achr19

6494533

-
intron-intronENST00000549520ENST00000596926PBX2chr6

3504787

-TUBB4Achr19

6494533

-
intron-3UTRENST00000551389ENST00000264071PBX2chr6

3504787

-TUBB4Achr19

6494533

-
intron-3UTRENST00000551389ENST00000540257PBX2chr6

3504787

-TUBB4Achr19

6494533

-
intron-intronENST00000551389ENST00000601152PBX2chr6

3504787

-TUBB4Achr19

6494533

-
intron-intronENST00000551389ENST00000598006PBX2chr6

3504787

-TUBB4Achr19

6494533

-
intron-intronENST00000551389ENST00000596926PBX2chr6

3504787

-TUBB4Achr19

6494533

-
intron-3UTRENST00000549406ENST00000264071PBX2chr6

3504787

-TUBB4Achr19

6494533

-
intron-3UTRENST00000549406ENST00000540257PBX2chr6

3504787

-TUBB4Achr19

6494533

-
intron-intronENST00000549406ENST00000601152PBX2chr6

3504787

-TUBB4Achr19

6494533

-
intron-intronENST00000549406ENST00000598006PBX2chr6

3504787

-TUBB4Achr19

6494533

-
intron-intronENST00000549406ENST00000596926PBX2chr6

3504787

-TUBB4Achr19

6494533

-
intron-3UTRENST00000453961ENST00000264071PBX2chr6

3504787

-TUBB4Achr19

6494533

-
intron-3UTRENST00000453961ENST00000540257PBX2chr6

3504787

-TUBB4Achr19

6494533

-
intron-intronENST00000453961ENST00000601152PBX2chr6

3504787

-TUBB4Achr19

6494533

-
intron-intronENST00000453961ENST00000598006PBX2chr6

3504787

-TUBB4Achr19

6494533

-
intron-intronENST00000453961ENST00000596926PBX2chr6

3504787

-TUBB4Achr19

6494533

-
intron-3UTRENST00000553136ENST00000264071PBX2chr6

3504787

-TUBB4Achr19

6494533

-
intron-3UTRENST00000553136ENST00000540257PBX2chr6

3504787

-TUBB4Achr19

6494533

-
intron-intronENST00000553136ENST00000601152PBX2chr6

3504787

-TUBB4Achr19

6494533

-
intron-intronENST00000553136ENST00000598006PBX2chr6

3504787

-TUBB4Achr19

6494533

-
intron-intronENST00000553136ENST00000596926PBX2chr6

3504787

-TUBB4Achr19

6494533

-
intron-3UTRENST00000547363ENST00000264071PBX2chr6

3504787

-TUBB4Achr19

6494533

-
intron-3UTRENST00000547363ENST00000540257PBX2chr6

3504787

-TUBB4Achr19

6494533

-
intron-intronENST00000547363ENST00000601152PBX2chr6

3504787

-TUBB4Achr19

6494533

-
intron-intronENST00000547363ENST00000598006PBX2chr6

3504787

-TUBB4Achr19

6494533

-
intron-intronENST00000547363ENST00000596926PBX2chr6

3504787

-TUBB4Achr19

6494533

-
intron-3UTRENST00000552094ENST00000264071PBX2chr6

3504787

-TUBB4Achr19

6494533

-
intron-3UTRENST00000552094ENST00000540257PBX2chr6

3504787

-TUBB4Achr19

6494533

-
intron-intronENST00000552094ENST00000601152PBX2chr6

3504787

-TUBB4Achr19

6494533

-
intron-intronENST00000552094ENST00000598006PBX2chr6

3504787

-TUBB4Achr19

6494533

-
intron-intronENST00000552094ENST00000596926PBX2chr6

3504787

-TUBB4Achr19

6494533

-
intron-3UTRENST00000420432ENST00000264071PBX2chr6

3504787

-TUBB4Achr19

6494533

-
intron-3UTRENST00000420432ENST00000540257PBX2chr6

3504787

-TUBB4Achr19

6494533

-
intron-intronENST00000420432ENST00000601152PBX2chr6

3504787

-TUBB4Achr19

6494533

-
intron-intronENST00000420432ENST00000598006PBX2chr6

3504787

-TUBB4Achr19

6494533

-
intron-intronENST00000420432ENST00000596926PBX2chr6

3504787

-TUBB4Achr19

6494533

-
intron-3UTRENST00000553184ENST00000264071PBX2chr6

3504787

-TUBB4Achr19

6494533

-
intron-3UTRENST00000553184ENST00000540257PBX2chr6

3504787

-TUBB4Achr19

6494533

-
intron-intronENST00000553184ENST00000601152PBX2chr6

3504787

-TUBB4Achr19

6494533

-
intron-intronENST00000553184ENST00000598006PBX2chr6

3504787

-TUBB4Achr19

6494533

-
intron-intronENST00000553184ENST00000596926PBX2chr6

3504787

-TUBB4Achr19

6494533

-
intron-3UTRENST00000550085ENST00000264071PBX2chr6

3504787

-TUBB4Achr19

6494533

-
intron-3UTRENST00000550085ENST00000540257PBX2chr6

3504787

-TUBB4Achr19

6494533

-
intron-intronENST00000550085ENST00000601152PBX2chr6

3504787

-TUBB4Achr19

6494533

-
intron-intronENST00000550085ENST00000598006PBX2chr6

3504787

-TUBB4Achr19

6494533

-
intron-intronENST00000550085ENST00000596926PBX2chr6

3504787

-TUBB4Achr19

6494533

-
intron-3UTRENST00000383270ENST00000264071PBX2chr6

3504787

-TUBB4Achr19

6494533

-
intron-3UTRENST00000383270ENST00000540257PBX2chr6

3504787

-TUBB4Achr19

6494533

-
intron-intronENST00000383270ENST00000601152PBX2chr6

3504787

-TUBB4Achr19

6494533

-
intron-intronENST00000383270ENST00000598006PBX2chr6

3504787

-TUBB4Achr19

6494533

-
intron-intronENST00000383270ENST00000596926PBX2chr6

3504787

-TUBB4Achr19

6494533

-
intron-3UTRENST00000551651ENST00000264071PBX2chr6

3504787

-TUBB4Achr19

6494533

-
intron-3UTRENST00000551651ENST00000540257PBX2chr6

3504787

-TUBB4Achr19

6494533

-
intron-intronENST00000551651ENST00000601152PBX2chr6

3504787

-TUBB4Achr19

6494533

-
intron-intronENST00000551651ENST00000598006PBX2chr6

3504787

-TUBB4Achr19

6494533

-
intron-intronENST00000551651ENST00000596926PBX2chr6

3504787

-TUBB4Achr19

6494533

-
intron-3UTRENST00000546984ENST00000264071PBX2chr6

3504787

-TUBB4Achr19

6494533

-
intron-3UTRENST00000546984ENST00000540257PBX2chr6

3504787

-TUBB4Achr19

6494533

-
intron-intronENST00000546984ENST00000601152PBX2chr6

3504787

-TUBB4Achr19

6494533

-
intron-intronENST00000546984ENST00000598006PBX2chr6

3504787

-TUBB4Achr19

6494533

-
intron-intronENST00000546984ENST00000596926PBX2chr6

3504787

-TUBB4Achr19

6494533

-
intron-3UTRENST00000550532ENST00000264071PBX2chr6

3504787

-TUBB4Achr19

6494533

-
intron-3UTRENST00000550532ENST00000540257PBX2chr6

3504787

-TUBB4Achr19

6494533

-
intron-intronENST00000550532ENST00000601152PBX2chr6

3504787

-TUBB4Achr19

6494533

-
intron-intronENST00000550532ENST00000598006PBX2chr6

3504787

-TUBB4Achr19

6494533

-
intron-intronENST00000550532ENST00000596926PBX2chr6

3504787

-TUBB4Achr19

6494533

-
intron-3UTRENST00000431537ENST00000264071PBX2chr6

3504787

-TUBB4Achr19

6494533

-
intron-3UTRENST00000431537ENST00000540257PBX2chr6

3504787

-TUBB4Achr19

6494533

-
intron-intronENST00000431537ENST00000601152PBX2chr6

3504787

-TUBB4Achr19

6494533

-
intron-intronENST00000431537ENST00000598006PBX2chr6

3504787

-TUBB4Achr19

6494533

-
intron-intronENST00000431537ENST00000596926PBX2chr6

3504787

-TUBB4Achr19

6494533

-
intron-3UTRENST00000549894ENST00000264071PBX2chr6

3504787

-TUBB4Achr19

6494533

-
intron-3UTRENST00000549894ENST00000540257PBX2chr6

3504787

-TUBB4Achr19

6494533

-
intron-intronENST00000549894ENST00000601152PBX2chr6

3504787

-TUBB4Achr19

6494533

-
intron-intronENST00000549894ENST00000598006PBX2chr6

3504787

-TUBB4Achr19

6494533

-
intron-intronENST00000549894ENST00000596926PBX2chr6

3504787

-TUBB4Achr19

6494533

-
intron-3UTRENST00000548572ENST00000264071PBX2chr6

3504787

-TUBB4Achr19

6494533

-
intron-3UTRENST00000548572ENST00000540257PBX2chr6

3504787

-TUBB4Achr19

6494533

-
intron-intronENST00000548572ENST00000601152PBX2chr6

3504787

-TUBB4Achr19

6494533

-
intron-intronENST00000548572ENST00000598006PBX2chr6

3504787

-TUBB4Achr19

6494533

-
intron-intronENST00000548572ENST00000596926PBX2chr6

3504787

-TUBB4Achr19

6494533

-
intron-3UTRENST00000546976ENST00000264071PBX2chr6

3504787

-TUBB4Achr19

6494533

-
intron-3UTRENST00000546976ENST00000540257PBX2chr6

3504787

-TUBB4Achr19

6494533

-
intron-intronENST00000546976ENST00000601152PBX2chr6

3504787

-TUBB4Achr19

6494533

-
intron-intronENST00000546976ENST00000598006PBX2chr6

3504787

-TUBB4Achr19

6494533

-
intron-intronENST00000546976ENST00000596926PBX2chr6

3504787

-TUBB4Achr19

6494533

-
intron-3UTRENST00000433552ENST00000264071PBX2chr6

3504787

-TUBB4Achr19

6494533

-
intron-3UTRENST00000433552ENST00000540257PBX2chr6

3504787

-TUBB4Achr19

6494533

-
intron-intronENST00000433552ENST00000601152PBX2chr6

3504787

-TUBB4Achr19

6494533

-
intron-intronENST00000433552ENST00000598006PBX2chr6

3504787

-TUBB4Achr19

6494533

-
intron-intronENST00000433552ENST00000596926PBX2chr6

3504787

-TUBB4Achr19

6494533

-
intron-3UTRENST00000550227ENST00000264071PBX2chr6

3504787

-TUBB4Achr19

6494533

-
intron-3UTRENST00000550227ENST00000540257PBX2chr6

3504787

-TUBB4Achr19

6494533

-
intron-intronENST00000550227ENST00000601152PBX2chr6

3504787

-TUBB4Achr19

6494533

-
intron-intronENST00000550227ENST00000598006PBX2chr6

3504787

-TUBB4Achr19

6494533

-
intron-intronENST00000550227ENST00000596926PBX2chr6

3504787

-TUBB4Achr19

6494533

-
intron-3UTRENST00000549969ENST00000264071PBX2chr6

3504787

-TUBB4Achr19

6494533

-
intron-3UTRENST00000549969ENST00000540257PBX2chr6

3504787

-TUBB4Achr19

6494533

-
intron-intronENST00000549969ENST00000601152PBX2chr6

3504787

-TUBB4Achr19

6494533

-
intron-intronENST00000549969ENST00000598006PBX2chr6

3504787

-TUBB4Achr19

6494533

-
intron-intronENST00000549969ENST00000596926PBX2chr6

3504787

-TUBB4Achr19

6494533

-
intron-3UTRENST00000548776ENST00000264071PBX2chr6

3504787

-TUBB4Achr19

6494533

-
intron-3UTRENST00000548776ENST00000540257PBX2chr6

3504787

-TUBB4Achr19

6494533

-
intron-intronENST00000548776ENST00000601152PBX2chr6

3504787

-TUBB4Achr19

6494533

-
intron-intronENST00000548776ENST00000598006PBX2chr6

3504787

-TUBB4Achr19

6494533

-
intron-intronENST00000548776ENST00000596926PBX2chr6

3504787

-TUBB4Achr19

6494533

-

Top

FusionProtFeatures for PBX2_TUBB4A


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
PBX2

P40425

TUBB4A

P04350

Transcriptional activator that binds the sequence 5'-ATCAATCAA-3'. Activates transcription of PF4 in complex withMEIS1. {ECO:0000269|PubMed:12609849}. Tubulin is the major constituent of microtubules. Itbinds two moles of GTP, one at an exchangeable site on the betachain and one at a non-exchangeable site on the alpha chain.

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 PBX2_TUBB4A


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).

Top

FusionGenePPI for PBX2_TUBB4A


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


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


Top

RelatedDrugs for PBX2_TUBB4A


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneTUBB4AP04350DB11638ArtenimolTubulin beta-4A chainsmall moleculeapproved|investigational

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RelatedDiseases for PBX2_TUBB4A


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneTUBB4AC1851943DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT (disorder)1ORPHANET;UNIPROT
TgeneTUBB4AC2676244Leukodystrophy, Hypomyelinating, 61ORPHANET;UNIPROT