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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:DCAF5-PTK2B (FusionGDB2 ID:21513)

Fusion Gene Summary for DCAF5-PTK2B

check button Fusion gene summary
Fusion gene informationFusion gene name: DCAF5-PTK2B
Fusion gene ID: 21513
HgeneTgene
Gene symbol

DCAF5

PTK2B

Gene ID

8816

2185

Gene nameDDB1 and CUL4 associated factor 5protein tyrosine kinase 2 beta
SynonymsBCRG2|BCRP2|D14S1461E|WDR22CADTK|CAKB|FADK2|FAK2|PKB|PTK|PYK2|RAFTK
Cytomap

14q24.1

8p21.2

Type of geneprotein-codingprotein-coding
DescriptionDDB1- and CUL4-associated factor 5WD repeat-containing protein 22breakpoint cluster region protein, uterine leiomyoma, 2protein-tyrosine kinase 2-betaCAK-betaFADK 2PTK2B protein tyrosine kinase 2 betacalcium-dependent tyrosine kinasecalcium-regulated non-receptor proline-rich tyrosine kinasecell adhesion kinase betafocal adhesion kinase 2proline-rich tyrosine kinas
Modification date2020031320200313
UniProtAcc

Q96JK2

.
Ensembl transtripts involved in fusion geneENST00000341516, ENST00000389997, 
ENST00000557386, ENST00000553293, 
ENST00000554215, ENST00000556847, 
ENST00000519650, ENST00000338238, 
ENST00000397501, ENST00000544172, 
ENST00000346049, ENST00000397497, 
ENST00000420218, ENST00000517339, 
Fusion gene scores* DoF score15 X 13 X 8=15609 X 10 X 4=360
# samples 1610
** MAII scorelog2(16/1560*10)=-3.28540221886225
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(10/360*10)=-1.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: DCAF5 [Title/Abstract] AND PTK2B [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointDCAF5(69619482)-PTK2B(27169821), # samples:1
Anticipated loss of major functional domain due to fusion event.
* 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
TgenePTK2B

GO:0010595

positive regulation of endothelial cell migration

21245381

TgenePTK2B

GO:0018108

peptidyl-tyrosine phosphorylation

7544443

TgenePTK2B

GO:0038083

peptidyl-tyrosine autophosphorylation

9545257|10518561

TgenePTK2B

GO:0043267

negative regulation of potassium ion transport

7544443

TgenePTK2B

GO:0050731

positive regulation of peptidyl-tyrosine phosphorylation

10022914|10518561|21245381

TgenePTK2B

GO:2000058

regulation of ubiquitin-dependent protein catabolic process

19880522


check buttonFusion gene breakpoints across DCAF5 (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 PTK2B (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
ChimerDB4PRADTCGA-HC-7818-01ADCAF5chr14

69619482

-PTK2Bchr8

27169821

+


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Fusion Gene ORF analysis for DCAF5-PTK2B

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-3UTRENST00000341516ENST00000519650DCAF5chr14

69619482

-PTK2Bchr8

27169821

+
5CDS-3UTRENST00000389997ENST00000519650DCAF5chr14

69619482

-PTK2Bchr8

27169821

+
5CDS-3UTRENST00000557386ENST00000519650DCAF5chr14

69619482

-PTK2Bchr8

27169821

+
5CDS-5UTRENST00000341516ENST00000338238DCAF5chr14

69619482

-PTK2Bchr8

27169821

+
5CDS-5UTRENST00000341516ENST00000397501DCAF5chr14

69619482

-PTK2Bchr8

27169821

+
5CDS-5UTRENST00000341516ENST00000544172DCAF5chr14

69619482

-PTK2Bchr8

27169821

+
5CDS-5UTRENST00000389997ENST00000338238DCAF5chr14

69619482

-PTK2Bchr8

27169821

+
5CDS-5UTRENST00000389997ENST00000397501DCAF5chr14

69619482

-PTK2Bchr8

27169821

+
5CDS-5UTRENST00000389997ENST00000544172DCAF5chr14

69619482

-PTK2Bchr8

27169821

+
5CDS-5UTRENST00000557386ENST00000338238DCAF5chr14

69619482

-PTK2Bchr8

27169821

+
5CDS-5UTRENST00000557386ENST00000397501DCAF5chr14

69619482

-PTK2Bchr8

27169821

+
5CDS-5UTRENST00000557386ENST00000544172DCAF5chr14

69619482

-PTK2Bchr8

27169821

+
5CDS-intronENST00000341516ENST00000346049DCAF5chr14

69619482

-PTK2Bchr8

27169821

+
5CDS-intronENST00000341516ENST00000397497DCAF5chr14

69619482

-PTK2Bchr8

27169821

+
5CDS-intronENST00000341516ENST00000420218DCAF5chr14

69619482

-PTK2Bchr8

27169821

+
5CDS-intronENST00000341516ENST00000517339DCAF5chr14

69619482

-PTK2Bchr8

27169821

+
5CDS-intronENST00000389997ENST00000346049DCAF5chr14

69619482

-PTK2Bchr8

27169821

+
5CDS-intronENST00000389997ENST00000397497DCAF5chr14

69619482

-PTK2Bchr8

27169821

+
5CDS-intronENST00000389997ENST00000420218DCAF5chr14

69619482

-PTK2Bchr8

27169821

+
5CDS-intronENST00000389997ENST00000517339DCAF5chr14

69619482

-PTK2Bchr8

27169821

+
5CDS-intronENST00000557386ENST00000346049DCAF5chr14

69619482

-PTK2Bchr8

27169821

+
5CDS-intronENST00000557386ENST00000397497DCAF5chr14

69619482

-PTK2Bchr8

27169821

+
5CDS-intronENST00000557386ENST00000420218DCAF5chr14

69619482

-PTK2Bchr8

27169821

+
5CDS-intronENST00000557386ENST00000517339DCAF5chr14

69619482

-PTK2Bchr8

27169821

+
intron-3UTRENST00000553293ENST00000519650DCAF5chr14

69619482

-PTK2Bchr8

27169821

+
intron-3UTRENST00000554215ENST00000519650DCAF5chr14

69619482

-PTK2Bchr8

27169821

+
intron-3UTRENST00000556847ENST00000519650DCAF5chr14

69619482

-PTK2Bchr8

27169821

+
intron-5UTRENST00000553293ENST00000338238DCAF5chr14

69619482

-PTK2Bchr8

27169821

+
intron-5UTRENST00000553293ENST00000397501DCAF5chr14

69619482

-PTK2Bchr8

27169821

+
intron-5UTRENST00000553293ENST00000544172DCAF5chr14

69619482

-PTK2Bchr8

27169821

+
intron-5UTRENST00000554215ENST00000338238DCAF5chr14

69619482

-PTK2Bchr8

27169821

+
intron-5UTRENST00000554215ENST00000397501DCAF5chr14

69619482

-PTK2Bchr8

27169821

+
intron-5UTRENST00000554215ENST00000544172DCAF5chr14

69619482

-PTK2Bchr8

27169821

+
intron-5UTRENST00000556847ENST00000338238DCAF5chr14

69619482

-PTK2Bchr8

27169821

+
intron-5UTRENST00000556847ENST00000397501DCAF5chr14

69619482

-PTK2Bchr8

27169821

+
intron-5UTRENST00000556847ENST00000544172DCAF5chr14

69619482

-PTK2Bchr8

27169821

+
intron-intronENST00000553293ENST00000346049DCAF5chr14

69619482

-PTK2Bchr8

27169821

+
intron-intronENST00000553293ENST00000397497DCAF5chr14

69619482

-PTK2Bchr8

27169821

+
intron-intronENST00000553293ENST00000420218DCAF5chr14

69619482

-PTK2Bchr8

27169821

+
intron-intronENST00000553293ENST00000517339DCAF5chr14

69619482

-PTK2Bchr8

27169821

+
intron-intronENST00000554215ENST00000346049DCAF5chr14

69619482

-PTK2Bchr8

27169821

+
intron-intronENST00000554215ENST00000397497DCAF5chr14

69619482

-PTK2Bchr8

27169821

+
intron-intronENST00000554215ENST00000420218DCAF5chr14

69619482

-PTK2Bchr8

27169821

+
intron-intronENST00000554215ENST00000517339DCAF5chr14

69619482

-PTK2Bchr8

27169821

+
intron-intronENST00000556847ENST00000346049DCAF5chr14

69619482

-PTK2Bchr8

27169821

+
intron-intronENST00000556847ENST00000397497DCAF5chr14

69619482

-PTK2Bchr8

27169821

+
intron-intronENST00000556847ENST00000420218DCAF5chr14

69619482

-PTK2Bchr8

27169821

+
intron-intronENST00000556847ENST00000517339DCAF5chr14

69619482

-PTK2Bchr8

27169821

+

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 DCAF5-PTK2B


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)
DCAF5chr1469619481-PTK2Bchr827169820+0.000536030.999464
DCAF5chr1469619481-PTK2Bchr827169820+0.000536030.999464

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.
genomic feature of top 1%

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Fusion Protein Features for DCAF5-PTK2B


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/:69619482/:27169821)
- 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
DCAF5

Q96JK2

.
FUNCTION: May function as a substrate receptor for CUL4-DDB1 E3 ubiquitin-protein ligase complex. {ECO:0000269|PubMed:16949367, ECO:0000269|PubMed:16964240}.FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {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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Fusion Gene Sequence for DCAF5-PTK2B


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 DCAF5-PTK2B


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 DCAF5-PTK2B


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 DCAF5-PTK2B


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