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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:DDX60L-CPE

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: DDX60L-CPE
FusionPDB ID: 22105
FusionGDB2.0 ID: 22105
HgeneTgene
Gene symbol

DDX60L

CPE

Gene ID

91351

1363

Gene nameDExD/H-box 60 likecarboxypeptidase E
Synonyms-CPH
Cytomap

4q32.3

4q32.3

Type of geneprotein-codingprotein-coding
Descriptionprobable ATP-dependent RNA helicase DDX60-likeDEAD (Asp-Glu-Ala-Asp) box polypeptide 60-likeDEAD box protein 60-likeDEAD-box helicase 60 likeputative ATP-dependent RNA helicase DDX60carboxypeptidase Ecarboxypeptidase Hcobalt-stimulated chromaffin granule carboxypeptidaseenkephalin convertaseepididymis secretory sperm binding proteininsulin granule-associated carboxypeptidaseprohormone-processing carboxypeptidase
Modification date2020031320200313
UniProtAcc

Q5H9U9

A4D0V7

Ensembl transtripts involved in fusion geneENST idsENST00000515088, ENST00000260184, 
ENST00000505890, ENST00000511577, 
ENST00000402744, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score4 X 5 X 3=6011 X 9 X 7=693
# samples 512
** MAII scorelog2(5/60*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(12/693*10)=-2.5298209465287
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: DDX60L [Title/Abstract] AND CPE [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)DDX60L(169393606)-CPE(166405574), # samples:2
Anticipated loss of major functional domain due to fusion event.DDX60L-CPE 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.
DDX60L-CPE 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
TgeneCPE

GO:0016055

Wnt signaling pathway

22824791

TgeneCPE

GO:0072657

protein localization to membrane

19166515


check buttonFusion gene breakpoints across DDX60L (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 CPE (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
ChimerDB4LIHCTCGA-G3-A3CH-01ADDX60Lchr4

169393606

-CPEchr4

166405574

+


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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)
ENST00000260184DDX60Lchr4169393606-ENST00000402744CPEchr4166405574+1646295276935219
ENST00000511577DDX60Lchr4169393606-ENST00000402744CPEchr4166405574+1673322303962219
ENST00000505890DDX60Lchr4169393606-ENST00000402744CPEchr4166405574+1646295276935219

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
ENST00000260184ENST00000402744DDX60Lchr4169393606-CPEchr4166405574+0.0017390310.99826103
ENST00000511577ENST00000402744DDX60Lchr4169393606-CPEchr4166405574+0.0016748850.99832505
ENST00000505890ENST00000402744DDX60Lchr4169393606-CPEchr4166405574+0.0017390310.99826103

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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

>22105_22105_1_DDX60L-CPE_DDX60L_chr4_169393606_ENST00000260184_CPE_chr4_166405574_ENST00000402744_length(amino acids)=219AA_BP=5
MKCQKLGSAHEYSSSPDDAIFQSLARAYSSFNPAMSDPNRPPCRKNDDDSSFVDGTTNGGAWYSVPGGMQDFNYLSSNCFEITVELSCEK
FPPEETLKTYWEDNKNSLISYLEQIHRGVKGFVRDLQGNPIANATISVEGIDHDVTSAKDGDYWRLLIPGNYKLTASAPGYLAITKKVAV

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

>22105_22105_2_DDX60L-CPE_DDX60L_chr4_169393606_ENST00000505890_CPE_chr4_166405574_ENST00000402744_length(amino acids)=219AA_BP=5
MKCQKLGSAHEYSSSPDDAIFQSLARAYSSFNPAMSDPNRPPCRKNDDDSSFVDGTTNGGAWYSVPGGMQDFNYLSSNCFEITVELSCEK
FPPEETLKTYWEDNKNSLISYLEQIHRGVKGFVRDLQGNPIANATISVEGIDHDVTSAKDGDYWRLLIPGNYKLTASAPGYLAITKKVAV

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

>22105_22105_3_DDX60L-CPE_DDX60L_chr4_169393606_ENST00000511577_CPE_chr4_166405574_ENST00000402744_length(amino acids)=219AA_BP=5
MKCQKLGSAHEYSSSPDDAIFQSLARAYSSFNPAMSDPNRPPCRKNDDDSSFVDGTTNGGAWYSVPGGMQDFNYLSSNCFEITVELSCEK
FPPEETLKTYWEDNKNSLISYLEQIHRGVKGFVRDLQGNPIANATISVEGIDHDVTSAKDGDYWRLLIPGNYKLTASAPGYLAITKKVAV

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

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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/chr4:169393606/chr4:166405574)
- 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
DDX60L

Q5H9U9

CPE

A4D0V7


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

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneDDX60Lchr4:169393606chr4:166405574ENST00000260184-3381205_135424.6666666666666681707.0DomainHelicase C-terminal
HgeneDDX60Lchr4:169393606chr4:166405574ENST00000260184-338752_91924.6666666666666681707.0DomainHelicase ATP-binding
HgeneDDX60Lchr4:169393606chr4:166405574ENST00000505890-3301205_135424.6666666666666681309.0DomainHelicase C-terminal
HgeneDDX60Lchr4:169393606chr4:166405574ENST00000505890-330752_91924.6666666666666681309.0DomainHelicase ATP-binding
HgeneDDX60Lchr4:169393606chr4:166405574ENST00000511577-3381205_135424.6666666666666681707.0DomainHelicase C-terminal
HgeneDDX60Lchr4:169393606chr4:166405574ENST00000511577-338752_91924.6666666666666681707.0DomainHelicase ATP-binding
HgeneDDX60Lchr4:169393606chr4:166405574ENST00000260184-338869_87224.6666666666666681707.0MotifNote=DEAH box
HgeneDDX60Lchr4:169393606chr4:166405574ENST00000505890-330869_87224.6666666666666681309.0MotifNote=DEAH box
HgeneDDX60Lchr4:169393606chr4:166405574ENST00000511577-338869_87224.6666666666666681707.0MotifNote=DEAH box
HgeneDDX60Lchr4:169393606chr4:166405574ENST00000260184-338765_77224.6666666666666681707.0Nucleotide bindingATP
HgeneDDX60Lchr4:169393606chr4:166405574ENST00000505890-330765_77224.6666666666666681309.0Nucleotide bindingATP
HgeneDDX60Lchr4:169393606chr4:166405574ENST00000511577-338765_77224.6666666666666681707.0Nucleotide bindingATP


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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
DDX60L
CPE


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 DDX60L-CPE


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 DDX60L-CPE


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