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Center for Computational Systems Medicine level1
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Fusion Gene Summary

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Fusion Gene Sample Information

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Fusion ORF Analysis

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Fusion Amino Acid Sequences

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Fusion Protein Functional Features

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Fusion Protein-Protein Interaction

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Related drugs with this fusion protein

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Related disease with this fusion protein

Fusion Protein:PRKCZ-SKI

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: PRKCZ-SKI
FusionPDB ID: 68798
FusionGDB2.0 ID: 68798
HgeneTgene
Gene symbol

PRKCZ

SKI

Gene ID

5590

6497

Gene nameprotein kinase C zetaSKI proto-oncogene
SynonymsPKC-ZETA|PKC2SGS|SKV
Cytomap

1p36.33

1p36.33-p36.32

Type of geneprotein-codingprotein-coding
Descriptionprotein kinase C zeta typenPKC-zetaski oncogeneproto-oncogene c-Skiski oncoproteinv-ski avian sarcoma viral oncogene homolog
Modification date2020032720200329
UniProtAcc.

SKIDA1,C10orf140

Ensembl transtripts involved in fusion geneENST idsENST00000479263, ENST00000400920, 
ENST00000400921, 
ENST00000378536, 
ENST00000478223, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score11 X 7 X 6=46217 X 5 X 6=510
# samples 1217
** MAII scorelog2(12/462*10)=-1.94485844580754
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(17/510*10)=-1.58496250072116
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: PRKCZ [Title/Abstract] AND SKI [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)SKI(2161174)-PRKCZ(2087434), # samples:2
SKI(2161174)-PRKCZ(2066701), # samples:2
PRKCZ(1991030)-SKI(2234416), # samples:1
PRKCZ(2106752)-SKI(2234417), # samples:1
Anticipated loss of major functional domain due to fusion event.PRKCZ-SKI seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
PRKCZ-SKI seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
PRKCZ-SKI seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
PRKCZ-SKI seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
SKI-PRKCZ seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
SKI-PRKCZ seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame 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
HgenePRKCZ

GO:0006468

protein phosphorylation

10770950|17313651

HgenePRKCZ

GO:0018105

peptidyl-serine phosphorylation

15069075

TgeneSKI

GO:0000122

negative regulation of transcription by RNA polymerase II

17469184

TgeneSKI

GO:0008285

negative regulation of cell proliferation

11430826

TgeneSKI

GO:0014902

myotube differentiation

19008232

TgeneSKI

GO:0030512

negative regulation of transforming growth factor beta receptor signaling pathway

17469184

TgeneSKI

GO:0030514

negative regulation of BMP signaling pathway

14699069

TgeneSKI

GO:0032926

negative regulation of activin receptor signaling pathway

14699069

TgeneSKI

GO:0043388

positive regulation of DNA binding

15107821

TgeneSKI

GO:0045668

negative regulation of osteoblast differentiation

14699069

TgeneSKI

GO:0060395

SMAD protein signal transduction

12874272


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

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


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Fusion Gene Sample Information

check buttonFusion gene information from FusionGDB2.0.
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
ChimerDB4OVTCGA-29-1783PRKCZchr1

1991030

+SKIchr1

2234416

+
ChimerDB4STADTCGA-HU-A4GN-01APRKCZchr1

2106752

+SKIchr1

2234417

+


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Fusion ORF Analysis


check buttonFusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)
ENST00000400921PRKCZchr12106752+ENST00000378536SKIchr12234417+628117094432926827
ENST00000400920PRKCZchr12106752+ENST00000378536SKIchr12234417+59931421442638864

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
ENST00000400921ENST00000378536PRKCZchr12106752+SKIchr12234417+0.0030631270.9969369
ENST00000400920ENST00000378536PRKCZchr12106752+SKIchr12234417+0.002683080.9973169

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Fusion Amino Acid Sequences


check button For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP

>68798_68798_1_PRKCZ-SKI_PRKCZ_chr1_2106752_ENST00000400920_SKI_chr1_2234417_ENST00000378536_length(amino acids)=864AA_BP=1
MRGSLLPPGAEHERESWRALPRRVLRCERGLVSVCCLQREKSSFQESIYRRGARRWRKLYRANGHLFQAKRFNRRAYCGQCSERIWGLAR
QGYRCINCKLLVHKRCHGLVPLTCRKHMDSVMPSQEPPVDDKNEDADLPSEETDGIAYISSSRKHDSIKDDSEDLKPVIDGMDGIKISQG
LGLQDFDLIRVIGRGSYAKVLLVRLKKNDQIYAMKVVKKELVHDDEDIDWVQTEKHVFEQASSNPFLVGLHSCFQTTSRLFLVIEYVNGG
DLMFHMQRQRKLPEEHARFYAAEICIALNFLHERGIIYRDLKLDNVLLDADGHIKLTDYGMCKEGLGPGDTTSTFCGTPNYIAPEILRGE
EYGFSVDWWALGVLMFEMMAGRSPFDIITDNPDMNTEDYLFQVILEKPIRIPRFLSVKASHVLKGFLNKDPKERLGCRPQTGFSDIKSHA
FFRSIDWDLVSSEPPASIRPKTDDTSSQSPAPSEKDKPSSWLRTLAGSSNKSLGCVHPRQRLSAFRPWSPAVSASEKELSPHLPALIRDS
FYSYKSFETAVAPNVALAPPAQQKVVSSPPCAAAVSRAPEPLATCTQPRKRKLTVDTPGAPETLAPVAAPEEDKDSEAEVEVESREEFTS
SLSSLSSPSFTSSSSAKDLGSPGARALPSAVPDAAAPADAPSGLEAELEHLRQALEGGLDTKEAKEKFLHEVVKMRVKQEEKLSAALQAK
RSLHQELEFLRVAKKEKLREATEAKRNLRKEIERLRAENEKKMKEANESRLRLKRELEQARQARVCDKGCEAGRLRAKYSAQIEDLQVKL

--------------------------------------------------------------

>68798_68798_2_PRKCZ-SKI_PRKCZ_chr1_2106752_ENST00000400921_SKI_chr1_2234417_ENST00000378536_length(amino acids)=827AA_BP=1
MRRQEKKAESIYRRGARRWRKLYRANGHLFQAKRFNRRAYCGQCSERIWGLARQGYRCINCKLLVHKRCHGLVPLTCRKHMDSVMPSQEP
PVDDKNEDADLPSEETDGIAYISSSRKHDSIKDDSEDLKPVIDGMDGIKISQGLGLQDFDLIRVIGRGSYAKVLLVRLKKNDQIYAMKVV
KKELVHDDEDIDWVQTEKHVFEQASSNPFLVGLHSCFQTTSRLFLVIEYVNGGDLMFHMQRQRKLPEEHARFYAAEICIALNFLHERGII
YRDLKLDNVLLDADGHIKLTDYGMCKEGLGPGDTTSTFCGTPNYIAPEILRGEEYGFSVDWWALGVLMFEMMAGRSPFDIITDNPDMNTE
DYLFQVILEKPIRIPRFLSVKASHVLKGFLNKDPKERLGCRPQTGFSDIKSHAFFRSIDWDLVSSEPPASIRPKTDDTSSQSPAPSEKDK
PSSWLRTLAGSSNKSLGCVHPRQRLSAFRPWSPAVSASEKELSPHLPALIRDSFYSYKSFETAVAPNVALAPPAQQKVVSSPPCAAAVSR
APEPLATCTQPRKRKLTVDTPGAPETLAPVAAPEEDKDSEAEVEVESREEFTSSLSSLSSPSFTSSSSAKDLGSPGARALPSAVPDAAAP
ADAPSGLEAELEHLRQALEGGLDTKEAKEKFLHEVVKMRVKQEEKLSAALQAKRSLHQELEFLRVAKKEKLREATEAKRNLRKEIERLRA
ENEKKMKEANESRLRLKRELEQARQARVCDKGCEAGRLRAKYSAQIEDLQVKLQHAEADREQLRADLLREREAREHLEKVVKELQEQLWP

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Fusion Protein Functional Features


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr1:2161174/chr1:2087434)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

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

SKIDA1,C10orf140

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.908

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.
- Retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgenePRKCZchr1:2106752chr1:2234417ENST00000400920+131515_98342.0410.0DomainPB1
HgenePRKCZchr1:2106752chr1:2234417ENST00000400921+131515_98342.0410.0DomainPB1
HgenePRKCZchr1:2106752chr1:2234417ENST00000400920+1315258_266342.0410.0Nucleotide bindingATP
HgenePRKCZchr1:2106752chr1:2234417ENST00000400921+1315258_266342.0410.0Nucleotide bindingATP
HgenePRKCZchr1:2106752chr1:2234417ENST00000400920+1315130_180342.0410.0Zinc fingerPhorbol-ester/DAG-type
HgenePRKCZchr1:2106752chr1:2234417ENST00000400921+1315130_180342.0410.0Zinc fingerPhorbol-ester/DAG-type
TgeneSKIchr1:2106752chr1:2234417ENST0000037853607536_710323.0729.0Coiled coilOntology_term=ECO:0000255

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgenePRKCZchr1:2106752chr1:2234417ENST00000400920+1315252_518342.0410.0DomainProtein kinase
HgenePRKCZchr1:2106752chr1:2234417ENST00000400920+1315519_590342.0410.0DomainAGC-kinase C-terminal
HgenePRKCZchr1:2106752chr1:2234417ENST00000400921+1315252_518342.0410.0DomainProtein kinase
HgenePRKCZchr1:2106752chr1:2234417ENST00000400921+1315519_590342.0410.0DomainAGC-kinase C-terminal


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Fusion Protein-Protein Interaction


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 from validated records (BIOGRID-3.4.160)
GenePPI interactors


check button Protein-protein interactors based on sequence similarity (STRING)
GeneSTRING network
PRKCZ
SKI


check button - Retained interactions in fusion protein (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost interactions due to fusion (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs to PRKCZ-SKI


check button Drugs used for this fusion-positive patient.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDrugSourcePMID

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Related Diseases to PRKCZ-SKI


check button Diseases that have this fusion gene.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDiseaseSourcePMID

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