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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:PTPRK-PEX5L (FusionGDB2 ID:70013)

Fusion Gene Summary for PTPRK-PEX5L

check button Fusion gene summary
Fusion gene informationFusion gene name: PTPRK-PEX5L
Fusion gene ID: 70013
HgeneTgene
Gene symbol

PTPRK

PEX5L

Gene ID

5796

51555

Gene nameprotein tyrosine phosphatase receptor type Kperoxisomal biogenesis factor 5 like
SynonymsR-PTP-kappaPEX5R|PEX5RP|PXR2|PXR2B|TRIP8b
Cytomap

6q22.33

3q26.33

Type of geneprotein-codingprotein-coding
Descriptionreceptor-type tyrosine-protein phosphatase kappadJ480J14.2.1 (protein tyrosine phosphatase, receptor type, K (R-PTP-KAPPA, protein tyrosine phosphatase kappa , protein tyrosine phosphatase kappaprotein-tyrosine phosphatase kappaprotein-tyrosine phosphaPEX5-related proteinHCN channel auxiliary subunitPEX2-related proteinPEX5-like proteinPex5p-related proteinperoxin-5-related proteinperoxisome biogenesis factor 5-liketetratricopeptide repeat-containing Rab8b-interacting protein
Modification date2020032220200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000368226, ENST00000368227, 
ENST00000532331, ENST00000368213, 
ENST00000368210, ENST00000368215, 
ENST00000368207, ENST00000524481, 
ENST00000525459, 
ENST00000467460, 
ENST00000263962, ENST00000392649, 
ENST00000485199, ENST00000468741, 
ENST00000476138, ENST00000467440, 
ENST00000472994, ENST00000464614, 
ENST00000465751, 
Fusion gene scores* DoF score36 X 18 X 16=1036811 X 12 X 6=792
# samples 4811
** MAII scorelog2(48/10368*10)=-4.43295940727611
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(11/792*10)=-2.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: PTPRK [Title/Abstract] AND PEX5L [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointPTPRK(128505577)-PEX5L(179605572), # samples:2
Anticipated loss of major functional domain due to fusion event.PTPRK-PEX5L seems lost the major protein functional domain in Hgene partner, which is a CGC due to the frame-shifted ORF.
PTPRK-PEX5L seems lost the major protein functional domain in Hgene partner, which is a tumor suppressor due to the frame-shifted ORF.
PTPRK-PEX5L seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
PTPRK-PEX5L seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
* 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
HgenePTPRK

GO:0006470

protein dephosphorylation

16263724

HgenePTPRK

GO:0007165

signal transduction

16849327

HgenePTPRK

GO:0007179

transforming growth factor beta receptor signaling pathway

15899872

HgenePTPRK

GO:0008285

negative regulation of cell proliferation

15899872|18276111

HgenePTPRK

GO:0010839

negative regulation of keratinocyte proliferation

16263724

HgenePTPRK

GO:0030336

negative regulation of cell migration

18276111

HgenePTPRK

GO:0034394

protein localization to cell surface

18276111

HgenePTPRK

GO:0034614

cellular response to reactive oxygen species

16849327

HgenePTPRK

GO:0034644

cellular response to UV

16849327

HgenePTPRK

GO:0045786

negative regulation of cell cycle

15899872

HgenePTPRK

GO:0045892

negative regulation of transcription, DNA-templated

18276111


check buttonFusion gene breakpoints across PTPRK (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across PEX5L (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4SARCTCGA-DX-A23R-01APTPRKchr6

128505577

-PEX5Lchr3

179605572

-
ChimerDB4SARCTCGA-DX-A23R-01APTPRKchr6

128505577

-PEX5Lchr3

179605572

-


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Fusion Gene ORF analysis for PTPRK-PEX5L

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-shiftENST00000368226ENST00000467460PTPRKchr6

128505577

-PEX5Lchr3

179605572

-
Frame-shiftENST00000368226ENST00000263962PTPRKchr6

128505577

-PEX5Lchr3

179605572

-
Frame-shiftENST00000368226ENST00000392649PTPRKchr6

128505577

-PEX5Lchr3

179605572

-
Frame-shiftENST00000368226ENST00000485199PTPRKchr6

128505577

-PEX5Lchr3

179605572

-
5CDS-5UTRENST00000368226ENST00000468741PTPRKchr6

128505577

-PEX5Lchr3

179605572

-
5CDS-5UTRENST00000368226ENST00000476138PTPRKchr6

128505577

-PEX5Lchr3

179605572

-
5CDS-5UTRENST00000368226ENST00000467440PTPRKchr6

128505577

-PEX5Lchr3

179605572

-
5CDS-5UTRENST00000368226ENST00000472994PTPRKchr6

128505577

-PEX5Lchr3

179605572

-
5CDS-5UTRENST00000368226ENST00000464614PTPRKchr6

128505577

-PEX5Lchr3

179605572

-
5CDS-5UTRENST00000368226ENST00000465751PTPRKchr6

128505577

-PEX5Lchr3

179605572

-
Frame-shiftENST00000368227ENST00000467460PTPRKchr6

128505577

-PEX5Lchr3

179605572

-
Frame-shiftENST00000368227ENST00000263962PTPRKchr6

128505577

-PEX5Lchr3

179605572

-
Frame-shiftENST00000368227ENST00000392649PTPRKchr6

128505577

-PEX5Lchr3

179605572

-
Frame-shiftENST00000368227ENST00000485199PTPRKchr6

128505577

-PEX5Lchr3

179605572

-
5CDS-5UTRENST00000368227ENST00000468741PTPRKchr6

128505577

-PEX5Lchr3

179605572

-
5CDS-5UTRENST00000368227ENST00000476138PTPRKchr6

128505577

-PEX5Lchr3

179605572

-
5CDS-5UTRENST00000368227ENST00000467440PTPRKchr6

128505577

-PEX5Lchr3

179605572

-
5CDS-5UTRENST00000368227ENST00000472994PTPRKchr6

128505577

-PEX5Lchr3

179605572

-
5CDS-5UTRENST00000368227ENST00000464614PTPRKchr6

128505577

-PEX5Lchr3

179605572

-
5CDS-5UTRENST00000368227ENST00000465751PTPRKchr6

128505577

-PEX5Lchr3

179605572

-
Frame-shiftENST00000532331ENST00000467460PTPRKchr6

128505577

-PEX5Lchr3

179605572

-
Frame-shiftENST00000532331ENST00000263962PTPRKchr6

128505577

-PEX5Lchr3

179605572

-
Frame-shiftENST00000532331ENST00000392649PTPRKchr6

128505577

-PEX5Lchr3

179605572

-
Frame-shiftENST00000532331ENST00000485199PTPRKchr6

128505577

-PEX5Lchr3

179605572

-
5CDS-5UTRENST00000532331ENST00000468741PTPRKchr6

128505577

-PEX5Lchr3

179605572

-
5CDS-5UTRENST00000532331ENST00000476138PTPRKchr6

128505577

-PEX5Lchr3

179605572

-
5CDS-5UTRENST00000532331ENST00000467440PTPRKchr6

128505577

-PEX5Lchr3

179605572

-
5CDS-5UTRENST00000532331ENST00000472994PTPRKchr6

128505577

-PEX5Lchr3

179605572

-
5CDS-5UTRENST00000532331ENST00000464614PTPRKchr6

128505577

-PEX5Lchr3

179605572

-
5CDS-5UTRENST00000532331ENST00000465751PTPRKchr6

128505577

-PEX5Lchr3

179605572

-
Frame-shiftENST00000368213ENST00000467460PTPRKchr6

128505577

-PEX5Lchr3

179605572

-
Frame-shiftENST00000368213ENST00000263962PTPRKchr6

128505577

-PEX5Lchr3

179605572

-
Frame-shiftENST00000368213ENST00000392649PTPRKchr6

128505577

-PEX5Lchr3

179605572

-
Frame-shiftENST00000368213ENST00000485199PTPRKchr6

128505577

-PEX5Lchr3

179605572

-
5CDS-5UTRENST00000368213ENST00000468741PTPRKchr6

128505577

-PEX5Lchr3

179605572

-
5CDS-5UTRENST00000368213ENST00000476138PTPRKchr6

128505577

-PEX5Lchr3

179605572

-
5CDS-5UTRENST00000368213ENST00000467440PTPRKchr6

128505577

-PEX5Lchr3

179605572

-
5CDS-5UTRENST00000368213ENST00000472994PTPRKchr6

128505577

-PEX5Lchr3

179605572

-
5CDS-5UTRENST00000368213ENST00000464614PTPRKchr6

128505577

-PEX5Lchr3

179605572

-
5CDS-5UTRENST00000368213ENST00000465751PTPRKchr6

128505577

-PEX5Lchr3

179605572

-
Frame-shiftENST00000368210ENST00000467460PTPRKchr6

128505577

-PEX5Lchr3

179605572

-
Frame-shiftENST00000368210ENST00000263962PTPRKchr6

128505577

-PEX5Lchr3

179605572

-
Frame-shiftENST00000368210ENST00000392649PTPRKchr6

128505577

-PEX5Lchr3

179605572

-
Frame-shiftENST00000368210ENST00000485199PTPRKchr6

128505577

-PEX5Lchr3

179605572

-
5CDS-5UTRENST00000368210ENST00000468741PTPRKchr6

128505577

-PEX5Lchr3

179605572

-
5CDS-5UTRENST00000368210ENST00000476138PTPRKchr6

128505577

-PEX5Lchr3

179605572

-
5CDS-5UTRENST00000368210ENST00000467440PTPRKchr6

128505577

-PEX5Lchr3

179605572

-
5CDS-5UTRENST00000368210ENST00000472994PTPRKchr6

128505577

-PEX5Lchr3

179605572

-
5CDS-5UTRENST00000368210ENST00000464614PTPRKchr6

128505577

-PEX5Lchr3

179605572

-
5CDS-5UTRENST00000368210ENST00000465751PTPRKchr6

128505577

-PEX5Lchr3

179605572

-
Frame-shiftENST00000368215ENST00000467460PTPRKchr6

128505577

-PEX5Lchr3

179605572

-
Frame-shiftENST00000368215ENST00000263962PTPRKchr6

128505577

-PEX5Lchr3

179605572

-
Frame-shiftENST00000368215ENST00000392649PTPRKchr6

128505577

-PEX5Lchr3

179605572

-
Frame-shiftENST00000368215ENST00000485199PTPRKchr6

128505577

-PEX5Lchr3

179605572

-
5CDS-5UTRENST00000368215ENST00000468741PTPRKchr6

128505577

-PEX5Lchr3

179605572

-
5CDS-5UTRENST00000368215ENST00000476138PTPRKchr6

128505577

-PEX5Lchr3

179605572

-
5CDS-5UTRENST00000368215ENST00000467440PTPRKchr6

128505577

-PEX5Lchr3

179605572

-
5CDS-5UTRENST00000368215ENST00000472994PTPRKchr6

128505577

-PEX5Lchr3

179605572

-
5CDS-5UTRENST00000368215ENST00000464614PTPRKchr6

128505577

-PEX5Lchr3

179605572

-
5CDS-5UTRENST00000368215ENST00000465751PTPRKchr6

128505577

-PEX5Lchr3

179605572

-
Frame-shiftENST00000368207ENST00000467460PTPRKchr6

128505577

-PEX5Lchr3

179605572

-
Frame-shiftENST00000368207ENST00000263962PTPRKchr6

128505577

-PEX5Lchr3

179605572

-
Frame-shiftENST00000368207ENST00000392649PTPRKchr6

128505577

-PEX5Lchr3

179605572

-
Frame-shiftENST00000368207ENST00000485199PTPRKchr6

128505577

-PEX5Lchr3

179605572

-
5CDS-5UTRENST00000368207ENST00000468741PTPRKchr6

128505577

-PEX5Lchr3

179605572

-
5CDS-5UTRENST00000368207ENST00000476138PTPRKchr6

128505577

-PEX5Lchr3

179605572

-
5CDS-5UTRENST00000368207ENST00000467440PTPRKchr6

128505577

-PEX5Lchr3

179605572

-
5CDS-5UTRENST00000368207ENST00000472994PTPRKchr6

128505577

-PEX5Lchr3

179605572

-
5CDS-5UTRENST00000368207ENST00000464614PTPRKchr6

128505577

-PEX5Lchr3

179605572

-
5CDS-5UTRENST00000368207ENST00000465751PTPRKchr6

128505577

-PEX5Lchr3

179605572

-
5UTR-3CDSENST00000524481ENST00000467460PTPRKchr6

128505577

-PEX5Lchr3

179605572

-
5UTR-3CDSENST00000524481ENST00000263962PTPRKchr6

128505577

-PEX5Lchr3

179605572

-
5UTR-3CDSENST00000524481ENST00000392649PTPRKchr6

128505577

-PEX5Lchr3

179605572

-
5UTR-3CDSENST00000524481ENST00000485199PTPRKchr6

128505577

-PEX5Lchr3

179605572

-
5UTR-5UTRENST00000524481ENST00000468741PTPRKchr6

128505577

-PEX5Lchr3

179605572

-
5UTR-5UTRENST00000524481ENST00000476138PTPRKchr6

128505577

-PEX5Lchr3

179605572

-
5UTR-5UTRENST00000524481ENST00000467440PTPRKchr6

128505577

-PEX5Lchr3

179605572

-
5UTR-5UTRENST00000524481ENST00000472994PTPRKchr6

128505577

-PEX5Lchr3

179605572

-
5UTR-5UTRENST00000524481ENST00000464614PTPRKchr6

128505577

-PEX5Lchr3

179605572

-
5UTR-5UTRENST00000524481ENST00000465751PTPRKchr6

128505577

-PEX5Lchr3

179605572

-
intron-3CDSENST00000525459ENST00000467460PTPRKchr6

128505577

-PEX5Lchr3

179605572

-
intron-3CDSENST00000525459ENST00000263962PTPRKchr6

128505577

-PEX5Lchr3

179605572

-
intron-3CDSENST00000525459ENST00000392649PTPRKchr6

128505577

-PEX5Lchr3

179605572

-
intron-3CDSENST00000525459ENST00000485199PTPRKchr6

128505577

-PEX5Lchr3

179605572

-
intron-5UTRENST00000525459ENST00000468741PTPRKchr6

128505577

-PEX5Lchr3

179605572

-
intron-5UTRENST00000525459ENST00000476138PTPRKchr6

128505577

-PEX5Lchr3

179605572

-
intron-5UTRENST00000525459ENST00000467440PTPRKchr6

128505577

-PEX5Lchr3

179605572

-
intron-5UTRENST00000525459ENST00000472994PTPRKchr6

128505577

-PEX5Lchr3

179605572

-
intron-5UTRENST00000525459ENST00000464614PTPRKchr6

128505577

-PEX5Lchr3

179605572

-
intron-5UTRENST00000525459ENST00000465751PTPRKchr6

128505577

-PEX5Lchr3

179605572

-

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score

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Fusion Genomic Features for PTPRK-PEX5L


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.

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Fusion Protein Features for PTPRK-PEX5L


check button Go to

FGviewer for the breakpoints of :-:

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
..
FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.

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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Fusion Gene Sequence for PTPRK-PEX5L


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.

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Fusion Gene PPI Analysis for PTPRK-PEX5L


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


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Related Drugs for PTPRK-PEX5L


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for PTPRK-PEX5L


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePTPRKC0025202melanoma2CTD_human
HgenePTPRKC0033578Prostatic Neoplasms1CTD_human
HgenePTPRKC0376358Malignant neoplasm of prostate1CTD_human
TgenePEX5LC0011570Mental Depression1PSYGENET
TgenePEX5LC0011581Depressive disorder1PSYGENET