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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:CDC45-DAB2 (FusionGDB2 ID:14915)

Fusion Gene Summary for CDC45-DAB2

check button Fusion gene summary
Fusion gene informationFusion gene name: CDC45-DAB2
Fusion gene ID: 14915
HgeneTgene
Gene symbol

CDC45

DAB2

Gene ID

8318

1601

Gene namecell division cycle 45DAB adaptor protein 2
SynonymsCDC45L|CDC45L2|MGORS7|PORC-PI-1DOC-2|DOC2
Cytomap

22q11.21

5p13.1

Type of geneprotein-codingprotein-coding
Descriptioncell division control protein 45 homologCDC45 cell division cycle 45 homologCDC45 cell division cycle 45-likeCDC45-related proteincell division cycle 45 homologcell division cycle 45-like 2human CDC45disabled homolog 2DAB2, clathrin adaptor proteinDab, mitogen-responsive phosphoprotein, homolog 2adaptor molecule disabled-2differentially expressed in ovarian carcinoma 2differentially-expressed protein 2disabled homolog 2, mitogen-responsive phosp
Modification date2020031320200313
UniProtAcc

O75419

Q5VWQ8

Ensembl transtripts involved in fusion geneENST00000263201, ENST00000404724, 
ENST00000407835, ENST00000437685, 
ENST00000483431, 		ENST00000320816, 
ENST00000339788, ENST00000509337, 
ENST00000545653, ENST00000512525, 
Fusion gene scores* DoF score2 X 2 X 1=48 X 9 X 2=144
# samples 210
** MAII scorelog2(2/4*10)=2.32192809488736log2(10/144*10)=-0.526068811667588
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CDC45 [Title/Abstract] AND DAB2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCDC45(19470514)-DAB2(39373140), # 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
TgeneDAB2

GO:0010718

positive regulation of epithelial to mesenchymal transition

15734730

TgeneDAB2

GO:0010862

positive regulation of pathway-restricted SMAD protein phosphorylation

11387212

TgeneDAB2

GO:0030511

positive regulation of transforming growth factor beta receptor signaling pathway

11387212

TgeneDAB2

GO:0043066

negative regulation of apoptotic process

15734730

TgeneDAB2

GO:0060391

positive regulation of SMAD protein signal transduction

11387212


check buttonFusion gene breakpoints across CDC45 (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 DAB2 (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
ChiTaRS5.0N/AAI146523CDC45chr22

19470514

+DAB2chr5

39373140

+


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Fusion Gene ORF analysis for CDC45-DAB2

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
intron-3UTRENST00000263201ENST00000320816CDC45chr22

19470514

+DAB2chr5

39373140

+
intron-3UTRENST00000263201ENST00000339788CDC45chr22

19470514

+DAB2chr5

39373140

+
intron-3UTRENST00000263201ENST00000509337CDC45chr22

19470514

+DAB2chr5

39373140

+
intron-3UTRENST00000263201ENST00000545653CDC45chr22

19470514

+DAB2chr5

39373140

+
intron-3UTRENST00000404724ENST00000320816CDC45chr22

19470514

+DAB2chr5

39373140

+
intron-3UTRENST00000404724ENST00000339788CDC45chr22

19470514

+DAB2chr5

39373140

+
intron-3UTRENST00000404724ENST00000509337CDC45chr22

19470514

+DAB2chr5

39373140

+
intron-3UTRENST00000404724ENST00000545653CDC45chr22

19470514

+DAB2chr5

39373140

+
intron-3UTRENST00000407835ENST00000320816CDC45chr22

19470514

+DAB2chr5

39373140

+
intron-3UTRENST00000407835ENST00000339788CDC45chr22

19470514

+DAB2chr5

39373140

+
intron-3UTRENST00000407835ENST00000509337CDC45chr22

19470514

+DAB2chr5

39373140

+
intron-3UTRENST00000407835ENST00000545653CDC45chr22

19470514

+DAB2chr5

39373140

+
intron-3UTRENST00000437685ENST00000320816CDC45chr22

19470514

+DAB2chr5

39373140

+
intron-3UTRENST00000437685ENST00000339788CDC45chr22

19470514

+DAB2chr5

39373140

+
intron-3UTRENST00000437685ENST00000509337CDC45chr22

19470514

+DAB2chr5

39373140

+
intron-3UTRENST00000437685ENST00000545653CDC45chr22

19470514

+DAB2chr5

39373140

+
intron-3UTRENST00000483431ENST00000320816CDC45chr22

19470514

+DAB2chr5

39373140

+
intron-3UTRENST00000483431ENST00000339788CDC45chr22

19470514

+DAB2chr5

39373140

+
intron-3UTRENST00000483431ENST00000509337CDC45chr22

19470514

+DAB2chr5

39373140

+
intron-3UTRENST00000483431ENST00000545653CDC45chr22

19470514

+DAB2chr5

39373140

+
intron-intronENST00000263201ENST00000512525CDC45chr22

19470514

+DAB2chr5

39373140

+
intron-intronENST00000404724ENST00000512525CDC45chr22

19470514

+DAB2chr5

39373140

+
intron-intronENST00000407835ENST00000512525CDC45chr22

19470514

+DAB2chr5

39373140

+
intron-intronENST00000437685ENST00000512525CDC45chr22

19470514

+DAB2chr5

39373140

+
intron-intronENST00000483431ENST00000512525CDC45chr22

19470514

+DAB2chr5

39373140

+

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 CDC45-DAB2


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 CDC45-DAB2


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/:19470514/:39373140)
- 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
CDC45

O75419

DAB2

Q5VWQ8

FUNCTION: Required for initiation of chromosomal DNA replication.FUNCTION: Functions as a scaffold protein implicated in the regulation of a large spectrum of both general and specialized signaling pathways. Involved in several processes such as innate immune response, inflammation and cell growth inhibition, apoptosis, cell survival, angiogenesis, cell migration and maturation. Plays also a role in cell cycle checkpoint control; reduces G1 phase cyclin levels resulting in G0/G1 cell cycle arrest. Mediates signal transduction by receptor-mediated inflammatory signals, such as the tumor necrosis factor (TNF), interferon (IFN) or lipopolysaccharide (LPS). Modulates the balance between phosphatidylinositol 3-kinase (PI3K)-AKT-mediated cell survival and apoptosis stimulated kinase (MAP3K5)-JNK signaling pathways; sequesters both AKT1 and MAP3K5 and counterbalances the activity of each kinase by modulating their phosphorylation status in response to proinflammatory stimuli. Acts as a regulator of the endoplasmic reticulum (ER) unfolded protein response (UPR) pathway; specifically involved in transduction of the ER stress-response to the JNK cascade through ERN1. Mediates TNF-alpha-induced apoptosis activation by facilitating dissociation of inhibitor 14-3-3 from MAP3K5; recruits the PP2A phosphatase complex which dephosphorylates MAP3K5 on 'Ser-966', leading to the dissociation of 13-3-3 proteins and activation of the MAP3K5-JNK signaling pathway in endothelial cells. Mediates also TNF/TRAF2-induced MAP3K5-JNK activation, while it inhibits CHUK-NF-kappa-B signaling. Acts a negative regulator in the IFN-gamma-mediated JAK-STAT signaling cascade by inhibiting smooth muscle cell (VSMCs) proliferation and intimal expansion, and thus, prevents graft arteriosclerosis (GA). Acts as a GTPase-activating protein (GAP) for the ADP ribosylation factor 6 (ARF6) and Ras. Promotes hydrolysis of the ARF6-bound GTP and thus, negatively regulates phosphatidylinositol 4,5-bisphosphate (PIP2)-dependent TLR4-TIRAP-MyD88 and NF-kappa-B signaling pathways in endothelial cells in response to lipopolysaccharides (LPS). Binds specifically to phosphatidylinositol 4-phosphate (PtdIns4P) and phosphatidylinositol 3-phosphate (PtdIns3P). In response to vascular endothelial growth factor (VEGFA), acts as a negative regulator of the VEGFR2-PI3K-mediated angiogenic signaling pathway by inhibiting endothelial cell migration and tube formation. In the developing brain, promotes both the transition from the multipolar to the bipolar stage and the radial migration of cortical neurons from the ventricular zone toward the superficial layer of the neocortex in a glial-dependent locomotion process. Probable downstream effector of the Reelin signaling pathway; promotes Purkinje cell (PC) dendrites development and formation of cerebellar synapses. Functions also as a tumor suppressor protein in prostate cancer progression; prevents cell proliferation and epithelial-to-mesenchymal transition (EMT) through activation of the glycogen synthase kinase-3 beta (GSK3B)-induced beta-catenin and inhibition of PI3K-AKT and Ras-MAPK survival downstream signaling cascades, respectively. {ECO:0000269|PubMed:12813029, ECO:0000269|PubMed:17389591, ECO:0000269|PubMed:18292600, ECO:0000269|PubMed:19033661, ECO:0000269|PubMed:19903888, ECO:0000269|PubMed:19948740, ECO:0000269|PubMed:20080667, ECO:0000269|PubMed:20154697, ECO:0000269|PubMed:21700930, ECO:0000269|PubMed:22696229}.

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 CDC45-DAB2


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 CDC45-DAB2


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 CDC45-DAB2


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 CDC45-DAB2


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