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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: 28222

FusionGeneSummary for PPL_UTRN

check button Fusion gene summary
Fusion gene informationFusion gene name: PPL_UTRN
Fusion gene ID: 28222
HgeneTgene
Gene symbol

PPL

UTRN

Gene ID

5493

7402

Gene nameperiplakinutrophin
Synonyms-DMDL|DRP|DRP1
Cytomap

16p13.3

6q24.2

Type of geneprotein-codingprotein-coding
Descriptionperiplakin190 kDa paraneoplastic pemphigus antigen195 kDa cornified envelope precursor proteinutrophinDRP-1dystrophin-related protein 1
Modification date2018052320180519
UniProtAcc

O60437

P46939

Ensembl transtripts involved in fusion geneENST00000345988, ENST00000590782, 
ENST00000367545, ENST00000367526, 
ENST00000480333, 
Fusion gene scores* DoF score3 X 3 X 3=2733 X 9 X 9=2673
# samples 333
** MAII scorelog2(3/27*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(33/2673*10)=-3.01792190799726
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: PPL [Title/Abstract] AND UTRN [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
TCGARVHNSCTCGA-CV-7430-01APPLchr16

4932508

-UTRNchr6

144665237

+
* 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-intronENST00000345988ENST00000367545PPLchr16

4932508

-UTRNchr6

144665237

+
5CDS-intronENST00000345988ENST00000367526PPLchr16

4932508

-UTRNchr6

144665237

+
5CDS-intronENST00000345988ENST00000480333PPLchr16

4932508

-UTRNchr6

144665237

+
intron-intronENST00000590782ENST00000367545PPLchr16

4932508

-UTRNchr6

144665237

+
intron-intronENST00000590782ENST00000367526PPLchr16

4932508

-UTRNchr6

144665237

+
intron-intronENST00000590782ENST00000480333PPLchr16

4932508

-UTRNchr6

144665237

+

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FusionProtFeatures for PPL_UTRN


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

O60437

UTRN

P46939

Component of the cornified envelope of keratinocytes.May link the cornified envelope to desmosomes and intermediatefilaments. May act as a localization signal in PKB/AKT-mediatedsignaling. {ECO:0000269|PubMed:9412476}. May play a role in anchoring the cytoskeleton to theplasma membrane. {ECO:0000250}.

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 PPL_UTRN


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 PPL_UTRN


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
PPLKAZN, EZR, PPHLN1, EVPL, COL17A1, KRT8, VIM, AKT1, ITSN1, CUL1, USP7, UBC, SKIL, ALAS1, TRIM27, TRAF2, AHCYL1, RALBP1, TSC22D4, RAB3IP, ZSCAN1, CEP57L1, SUSD3, DDX19B, KIR3DS1, UGT1A10, ZSCAN20, RBM24, HNRNPA1, DROSHA, P4HA2, PSMA1, PSMA5, PSMB4, PSMB6, PTEN, RBM4, SYNPO, FYCO1, VWA9, CDH1, FCF1, CDK15, TBC1D22B, FRMD1, CCNYL1, PDE4DIP, FTH1, ACAD9, TNFRSF19UTRNSNTA1, SNTB2, DAG1, UTRN, DTNA, PGM5, USP21, MARK2, PIK3CG, TERF1, TERF2, MME, DISC1, SIRT7, THOC1, RRP9, THOC2, THOC6, THOC5, UBE2D1, ZC3H15, XPO4, THOC3, UBE3C, PTPN12, NPM1, ADRA1D, LATS2, SAV1, OBSL1, CCDC8, L3HYPDH, IER2, USP7, CALM1, PTEN, MED4, TMEM17, PDK3, PI4KB, TTK, RBM8A, MCM2, ATOH1, CDH1, TENC1, TNS1, TNS3, SNTG2, NDEL1, DMD, CPNE5, FAM167A, RHPN1, PTRF, VHL, CPNE4, TTC30B, FAM189B, PHF19, TES


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 PPL_UTRN


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneUTRNP46939DB01593ZincUtrophinsmall moleculeapproved|investigational

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RelatedDiseases for PPL_UTRN


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