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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: 26132

FusionGeneSummary for PBX3_PPFIA1

check button Fusion gene summary
Fusion gene informationFusion gene name: PBX3_PPFIA1
Fusion gene ID: 26132
HgeneTgene
Gene symbol

PBX3

PPFIA1

Gene ID

5090

8500

Gene namePBX homeobox 3PTPRF interacting protein alpha 1
Synonyms-LIP.1|LIP1|LIPRIN
Cytomap

9q33.3

11q13.3

Type of geneprotein-codingprotein-coding
Descriptionpre-B-cell leukemia transcription factor 3homeobox protein PBX3pre-B-cell leukemia homeobox 3liprin-alpha-1LAR-interacting protein 1LIP-1Liprin-alpha1protein tyrosine phosphatase receptor type f polypeptide-interacting protein alpha-1protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1
Modification date2018051920180522
UniProtAcc

P40426

Q13136

Ensembl transtripts involved in fusion geneENST00000342287, ENST00000373487, 
ENST00000373489, ENST00000373483, 
ENST00000447726, ENST00000538998, 
ENST00000253925, ENST00000389547, 
ENST00000530548, 
Fusion gene scores* DoF score5 X 2 X 4=4014 X 13 X 7=1274
# samples 515
** MAII scorelog2(5/40*10)=0.321928094887362
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(15/1274*10)=-3.08633087176042
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: PBX3 [Title/Abstract] AND PPFIA1 [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

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-D8-A1JI-01APBX3chr9

128510902

+PPFIA1chr11

70218321

+
* 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-shiftENST00000342287ENST00000253925PBX3chr9

128510902

+PPFIA1chr11

70218321

+
Frame-shiftENST00000342287ENST00000389547PBX3chr9

128510902

+PPFIA1chr11

70218321

+
5CDS-3UTRENST00000342287ENST00000530548PBX3chr9

128510902

+PPFIA1chr11

70218321

+
Frame-shiftENST00000373487ENST00000253925PBX3chr9

128510902

+PPFIA1chr11

70218321

+
Frame-shiftENST00000373487ENST00000389547PBX3chr9

128510902

+PPFIA1chr11

70218321

+
5CDS-3UTRENST00000373487ENST00000530548PBX3chr9

128510902

+PPFIA1chr11

70218321

+
Frame-shiftENST00000373489ENST00000253925PBX3chr9

128510902

+PPFIA1chr11

70218321

+
Frame-shiftENST00000373489ENST00000389547PBX3chr9

128510902

+PPFIA1chr11

70218321

+
5CDS-3UTRENST00000373489ENST00000530548PBX3chr9

128510902

+PPFIA1chr11

70218321

+
5UTR-3CDSENST00000373483ENST00000253925PBX3chr9

128510902

+PPFIA1chr11

70218321

+
5UTR-3CDSENST00000373483ENST00000389547PBX3chr9

128510902

+PPFIA1chr11

70218321

+
5UTR-3UTRENST00000373483ENST00000530548PBX3chr9

128510902

+PPFIA1chr11

70218321

+
Frame-shiftENST00000447726ENST00000253925PBX3chr9

128510902

+PPFIA1chr11

70218321

+
Frame-shiftENST00000447726ENST00000389547PBX3chr9

128510902

+PPFIA1chr11

70218321

+
5CDS-3UTRENST00000447726ENST00000530548PBX3chr9

128510902

+PPFIA1chr11

70218321

+
intron-3CDSENST00000538998ENST00000253925PBX3chr9

128510902

+PPFIA1chr11

70218321

+
intron-3CDSENST00000538998ENST00000389547PBX3chr9

128510902

+PPFIA1chr11

70218321

+
intron-3UTRENST00000538998ENST00000530548PBX3chr9

128510902

+PPFIA1chr11

70218321

+

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FusionProtFeatures for PBX3_PPFIA1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
PBX3

P40426

PPFIA1

Q13136

Transcriptional activator that binds the sequence 5'-ATCAATCAA-3'. May regulate the disassembly of focal adhesions. Maylocalize receptor-like tyrosine phosphatases type 2A at specificsites on the plasma membrane, possibly regulating theirinteraction with the extracellular environment and theirassociation with substrates. {ECO:0000269|PubMed:7796809}.

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 PBX3_PPFIA1


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 PBX3_PPFIA1


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
PBX3AGTRAP, HOXA9, HOXB8, ZNHIT3, RABAC1, MAGEA1, TPM3, TRAF1, ARL6IP1, MAGEC2, TRIM44, MAL2, FSD2, LMX1B, MAB21L1, MEIS2, MAB21L2, PTEN, FOXE1, FAM222A, C5orf24, C16orf71, VWA5A, CCDC120, TMOD3PPFIA1GIT1, ERC2, PPP2R5D, TNNT1, MBIP, GRIP2, PTPRF, PTPRD, PTPRS, NCOA2, PPP2CA, PPP2R1A, PPFIA1, PPFIA2, ING4, PPP2CB, CUL2, AGTPBP1, CEP70, AMOT, LATS2, YWHAB, IKBKG, PSMC4, PSMD1, PSMD13, PSMD8, SPTAN1, DROSHA, NDN, AURKB, CDKN1A, CCNH, DTNB, FAM161A, TXLNA, BRCA1, GPS2, C16orf70, CYP4X1, NTRK1, OSBP, PPFIA3, PPFIBP1, PPFIBP2, CAGE1, TUBG1, XRCC1, GBA2, CDC5L, NF2, IL17RE, LLGL2, SERPINB2, STX11, EXOC8, TTC9B, CCDC120, 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 PBX3_PPFIA1


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 PBX3_PPFIA1


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