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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:DAB2-ZIM2 (FusionGDB2 ID:21245)

Fusion Gene Summary for DAB2-ZIM2

check button Fusion gene summary
Fusion gene informationFusion gene name: DAB2-ZIM2
Fusion gene ID: 21245
HgeneTgene
Gene symbol

DAB2

ZIM2

Gene ID

1601

23619

Gene nameDAB adaptor protein 2zinc finger imprinted 2
SynonymsDOC-2|DOC2ZNF656
Cytomap

5p13.1

19q13.43

Type of geneprotein-codingprotein-coding
Descriptiondisabled 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 phospzinc finger imprinted 2zinc finger protein 656
Modification date2020031320200313
UniProtAcc

P98082

.
Ensembl transtripts involved in fusion geneENST00000320816, ENST00000339788, 
ENST00000509337, ENST00000512525, 
ENST00000545653, 		ENST00000221722, 
ENST00000391708, ENST00000593711, 
ENST00000593931, ENST00000599935, 
ENST00000601070, 
Fusion gene scores* DoF score10 X 9 X 5=4504 X 4 X 1=16
# samples 114
** MAII scorelog2(11/450*10)=-2.03242147769238
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(4/16*10)=1.32192809488736
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: DAB2 [Title/Abstract] AND ZIM2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointDAB2(39403305)-ZIM2(57327577), # 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
HgeneDAB2

GO:0010718

positive regulation of epithelial to mesenchymal transition

15734730

HgeneDAB2

GO:0010862

positive regulation of pathway-restricted SMAD protein phosphorylation

11387212

HgeneDAB2

GO:0030511

positive regulation of transforming growth factor beta receptor signaling pathway

11387212

HgeneDAB2

GO:0043066

negative regulation of apoptotic process

15734730

HgeneDAB2

GO:0060391

positive regulation of SMAD protein signal transduction

11387212


check buttonFusion gene breakpoints across DAB2 (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 ZIM2 (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/ABF996758DAB2chr5

39403305

+ZIM2chr19

57327577

+


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Fusion Gene ORF analysis for DAB2-ZIM2

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-intronENST00000320816ENST00000221722DAB2chr5

39403305

+ZIM2chr19

57327577

+
intron-intronENST00000320816ENST00000391708DAB2chr5

39403305

+ZIM2chr19

57327577

+
intron-intronENST00000320816ENST00000593711DAB2chr5

39403305

+ZIM2chr19

57327577

+
intron-intronENST00000320816ENST00000593931DAB2chr5

39403305

+ZIM2chr19

57327577

+
intron-intronENST00000320816ENST00000599935DAB2chr5

39403305

+ZIM2chr19

57327577

+
intron-intronENST00000320816ENST00000601070DAB2chr5

39403305

+ZIM2chr19

57327577

+
intron-intronENST00000339788ENST00000221722DAB2chr5

39403305

+ZIM2chr19

57327577

+
intron-intronENST00000339788ENST00000391708DAB2chr5

39403305

+ZIM2chr19

57327577

+
intron-intronENST00000339788ENST00000593711DAB2chr5

39403305

+ZIM2chr19

57327577

+
intron-intronENST00000339788ENST00000593931DAB2chr5

39403305

+ZIM2chr19

57327577

+
intron-intronENST00000339788ENST00000599935DAB2chr5

39403305

+ZIM2chr19

57327577

+
intron-intronENST00000339788ENST00000601070DAB2chr5

39403305

+ZIM2chr19

57327577

+
intron-intronENST00000509337ENST00000221722DAB2chr5

39403305

+ZIM2chr19

57327577

+
intron-intronENST00000509337ENST00000391708DAB2chr5

39403305

+ZIM2chr19

57327577

+
intron-intronENST00000509337ENST00000593711DAB2chr5

39403305

+ZIM2chr19

57327577

+
intron-intronENST00000509337ENST00000593931DAB2chr5

39403305

+ZIM2chr19

57327577

+
intron-intronENST00000509337ENST00000599935DAB2chr5

39403305

+ZIM2chr19

57327577

+
intron-intronENST00000509337ENST00000601070DAB2chr5

39403305

+ZIM2chr19

57327577

+
intron-intronENST00000512525ENST00000221722DAB2chr5

39403305

+ZIM2chr19

57327577

+
intron-intronENST00000512525ENST00000391708DAB2chr5

39403305

+ZIM2chr19

57327577

+
intron-intronENST00000512525ENST00000593711DAB2chr5

39403305

+ZIM2chr19

57327577

+
intron-intronENST00000512525ENST00000593931DAB2chr5

39403305

+ZIM2chr19

57327577

+
intron-intronENST00000512525ENST00000599935DAB2chr5

39403305

+ZIM2chr19

57327577

+
intron-intronENST00000512525ENST00000601070DAB2chr5

39403305

+ZIM2chr19

57327577

+
intron-intronENST00000545653ENST00000221722DAB2chr5

39403305

+ZIM2chr19

57327577

+
intron-intronENST00000545653ENST00000391708DAB2chr5

39403305

+ZIM2chr19

57327577

+
intron-intronENST00000545653ENST00000593711DAB2chr5

39403305

+ZIM2chr19

57327577

+
intron-intronENST00000545653ENST00000593931DAB2chr5

39403305

+ZIM2chr19

57327577

+
intron-intronENST00000545653ENST00000599935DAB2chr5

39403305

+ZIM2chr19

57327577

+
intron-intronENST00000545653ENST00000601070DAB2chr5

39403305

+ZIM2chr19

57327577

+

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 DAB2-ZIM2


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 DAB2-ZIM2


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/:39403305/:57327577)
- 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
DAB2

P98082

.
FUNCTION: Adapter protein that functions as clathrin-associated sorting protein (CLASP) required for clathrin-mediated endocytosis of selected cargo proteins. Can bind and assemble clathrin, and binds simultaneously to phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2) and cargos containing non-phosphorylated NPXY internalization motifs, such as the LDL receptor, to recruit them to clathrin-coated pits. Can function in clathrin-mediated endocytosis independently of the AP-2 complex. Involved in endocytosis of integrin beta-1; this function seems to redundant with the AP-2 complex and seems to require DAB2 binding to endocytosis accessory EH domain-containing proteins such as EPS15, EPS15L1 and ITSN1. Involved in endocytosis of cystic fibrosis transmembrane conductance regulator/CFTR. Involved in endocytosis of megalin/LRP2 lipoprotein receptor during embryonal development. Required for recycling of the TGF-beta receptor. Involved in CFTR trafficking to the late endosome. Involved in several receptor-mediated signaling pathways. Involved in TGF-beta receptor signaling and facilitates phosphorylation of the signal transducer SMAD2. Mediates TFG-beta-stimulated JNK activation. May inhibit the canoniocal Wnt/beta-catenin signaling pathway by stabilizing the beta-catenin destruction complex through a competing association with axin preventing its dephosphorylation through protein phosphatase 1 (PP1). Sequesters LRP6 towards clathrin-mediated endocytosis, leading to inhibition of Wnt/beta-catenin signaling. May activate non-canonical Wnt signaling. In cell surface growth factor/Ras signaling pathways proposed to inhibit ERK activation by interrupting the binding of GRB2 to SOS1 and to inhibit SRC by preventing its activating phosphorylation at 'Tyr-419'. Proposed to be involved in modulation of androgen receptor (AR) signaling mediated by SRC activation; seems to compete with AR for interaction with SRC. Plays a role in the CSF-1 signal transduction pathway. Plays a role in cellular differentiation. Involved in cell positioning and formation of visceral endoderm (VE) during embryogenesis and proposed to be required in the VE to respond to Nodal signaling coming from the epiblast. Required for the epithelial to mesenchymal transition, a process necessary for proper embryonic development. May be involved in myeloid cell differentiation and can induce macrophage adhesion and spreading. May act as a tumor suppressor. {ECO:0000269|PubMed:11387212, ECO:0000269|PubMed:12805222, ECO:0000269|PubMed:16267015, ECO:0000269|PubMed:16984970, ECO:0000269|PubMed:19306879, ECO:0000269|PubMed:21995445, ECO:0000269|PubMed:22323290, ECO:0000269|PubMed:22491013}.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 DAB2-ZIM2


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 DAB2-ZIM2


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 DAB2-ZIM2


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 DAB2-ZIM2


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