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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:DAB2IP-HTN3 (FusionGDB2 ID:HG153090TG3347)

Fusion Gene Summary for DAB2IP-HTN3

check button Fusion gene summary
Fusion gene informationFusion gene name: DAB2IP-HTN3
Fusion gene ID: hg153090tg3347
HgeneTgene
Gene symbol

DAB2IP

HTN3

Gene ID

153090

3347

Gene nameDAB2 interacting proteinhistatin 3
SynonymsAF9Q34|AIP-1|AIP1|DIP1/2HIS2|HTN2|HTN5|PB
Cytomap('DAB2IP')('HTN3')

9q33.2

4q13.3

Type of geneprotein-codingprotein-coding
Descriptiondisabled homolog 2-interacting proteinASK-interacting protein 1ASK1-interacting protein 1DAB2 interaction proteinDOC-2/DAB2 interactive proteinnGAP-like proteinhistatin-3basic histidine-rich proteinhistatin-4histatin-5histatin-6histatin-7histatin-8histatin-9histidine-rich protein 3
Modification date2020031320200320
UniProtAcc

Q5VWQ8

.
Ensembl transtripts involved in fusion geneENST00000259371, ENST00000408936, 
ENST00000309989, ENST00000487716, 
Fusion gene scores* DoF score12 X 10 X 8=9604 X 4 X 2=32
# samples 124
** MAII scorelog2(12/960*10)=-3
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(4/32*10)=0.321928094887362
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: DAB2IP [Title/Abstract] AND HTN3 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointDAB2IP(124441060)-HTN3(70894160), # samples:2
DAB2IP(124441060)-HTN3(70896445), # samples:2
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
HgeneDAB2IP

GO:0000122

negative regulation of transcription by RNA polymerase II

15310755

HgeneDAB2IP

GO:0000185

activation of MAPKKK activity

19903888

HgeneDAB2IP

GO:0007257

activation of JUN kinase activity

12813029

HgeneDAB2IP

GO:0008285

negative regulation of cell proliferation

19903888

HgeneDAB2IP

GO:0010719

negative regulation of epithelial to mesenchymal transition

20154697

HgeneDAB2IP

GO:0014067

negative regulation of phosphatidylinositol 3-kinase signaling

19903888

HgeneDAB2IP

GO:0016525

negative regulation of angiogenesis

19033661

HgeneDAB2IP

GO:0031334

positive regulation of protein complex assembly

18281285

HgeneDAB2IP

GO:0034144

negative regulation of toll-like receptor 4 signaling pathway

19948740

HgeneDAB2IP

GO:0035924

cellular response to vascular endothelial growth factor stimulus

19033661

HgeneDAB2IP

GO:0043065

positive regulation of apoptotic process

17389591|19903888

HgeneDAB2IP

GO:0043124

negative regulation of I-kappaB kinase/NF-kappaB signaling

15310755|17389591

HgeneDAB2IP

GO:0043254

regulation of protein complex assembly

19948740

HgeneDAB2IP

GO:0043407

negative regulation of MAP kinase activity

12813029

HgeneDAB2IP

GO:0043410

positive regulation of MAPK cascade

19903888

HgeneDAB2IP

GO:0043507

positive regulation of JUN kinase activity

15310755

HgeneDAB2IP

GO:0043553

negative regulation of phosphatidylinositol 3-kinase activity

19903888

HgeneDAB2IP

GO:0044257

cellular protein catabolic process

17389591

HgeneDAB2IP

GO:0045944

positive regulation of transcription by RNA polymerase II

15310755|17389591

HgeneDAB2IP

GO:0046330

positive regulation of JNK cascade

17389591|19903888

HgeneDAB2IP

GO:0070317

negative regulation of G0 to G1 transition

19903888

HgeneDAB2IP

GO:0070373

negative regulation of ERK1 and ERK2 cascade

19903888

HgeneDAB2IP

GO:0071158

positive regulation of cell cycle arrest

19903888

HgeneDAB2IP

GO:0071222

cellular response to lipopolysaccharide

19948740

HgeneDAB2IP

GO:0071347

cellular response to interleukin-1

19948740

HgeneDAB2IP

GO:0071356

cellular response to tumor necrosis factor

12813029|15310755|17389591

HgeneDAB2IP

GO:0071901

negative regulation of protein serine/threonine kinase activity

19903888

HgeneDAB2IP

GO:0071902

positive regulation of protein serine/threonine kinase activity

19903888

HgeneDAB2IP

GO:1903363

negative regulation of cellular protein catabolic process

19903888

HgeneDAB2IP

GO:2001235

positive regulation of apoptotic signaling pathway

19903888



check button Fusion gene information
* 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
ChimerDB4BRCATCGA-A2-A0T1-01ADAB2IPchr9

124441060

+HTN3chr4

70894160

+
ChimerDB4BRCATCGA-A2-A0T1-01ADAB2IPchr9

124441060

-HTN3chr4

70896445

+
ChimerDB4BRCATCGA-A2-A0T1-01ADAB2IPchr9

124441060

+HTN3chr4

70896445

+


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Fusion Gene ORF analysis for DAB2IP-HTN3

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-5UTRENST00000259371ENST00000381057DAB2IPchr9

124441060

+HTN3chr4

70896445

+
5CDS-5UTRENST00000259371ENST00000526767DAB2IPchr9

124441060

+HTN3chr4

70894160

+
5CDS-5UTRENST00000259371ENST00000526767DAB2IPchr9

124441060

+HTN3chr4

70896445

+
5CDS-5UTRENST00000259371ENST00000530128DAB2IPchr9

124441060

+HTN3chr4

70896445

+
5CDS-5UTRENST00000408936ENST00000381057DAB2IPchr9

124441060

+HTN3chr4

70896445

+
5CDS-5UTRENST00000408936ENST00000526767DAB2IPchr9

124441060

+HTN3chr4

70894160

+
5CDS-5UTRENST00000408936ENST00000526767DAB2IPchr9

124441060

+HTN3chr4

70896445

+
5CDS-5UTRENST00000408936ENST00000530128DAB2IPchr9

124441060

+HTN3chr4

70896445

+
5CDS-intronENST00000259371ENST00000381057DAB2IPchr9

124441060

+HTN3chr4

70894160

+
5CDS-intronENST00000259371ENST00000530128DAB2IPchr9

124441060

+HTN3chr4

70894160

+
5CDS-intronENST00000408936ENST00000381057DAB2IPchr9

124441060

+HTN3chr4

70894160

+
5CDS-intronENST00000408936ENST00000530128DAB2IPchr9

124441060

+HTN3chr4

70894160

+
intron-5UTRENST00000309989ENST00000381057DAB2IPchr9

124441060

+HTN3chr4

70896445

+
intron-5UTRENST00000309989ENST00000526767DAB2IPchr9

124441060

+HTN3chr4

70894160

+
intron-5UTRENST00000309989ENST00000526767DAB2IPchr9

124441060

+HTN3chr4

70896445

+
intron-5UTRENST00000309989ENST00000530128DAB2IPchr9

124441060

+HTN3chr4

70896445

+
intron-5UTRENST00000487716ENST00000381057DAB2IPchr9

124441060

+HTN3chr4

70896445

+
intron-5UTRENST00000487716ENST00000526767DAB2IPchr9

124441060

+HTN3chr4

70894160

+
intron-5UTRENST00000487716ENST00000526767DAB2IPchr9

124441060

+HTN3chr4

70896445

+
intron-5UTRENST00000487716ENST00000530128DAB2IPchr9

124441060

+HTN3chr4

70896445

+
intron-intronENST00000309989ENST00000381057DAB2IPchr9

124441060

+HTN3chr4

70894160

+
intron-intronENST00000309989ENST00000530128DAB2IPchr9

124441060

+HTN3chr4

70894160

+
intron-intronENST00000487716ENST00000381057DAB2IPchr9

124441060

+HTN3chr4

70894160

+
intron-intronENST00000487716ENST00000530128DAB2IPchr9

124441060

+HTN3chr4

70894160

+

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 DAB2IP-HTN3


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)
DAB2IPchr9124441060+HTN3chr470896444+0.99797090.002029106
DAB2IPchr9124441060+HTN3chr470896444+0.99797090.002029106


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 DAB2IP-HTN3


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/:124441060/:70894160)
- 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
DAB2IP

Q5VWQ8

.
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}.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 DAB2IP-HTN3


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 DAB2IP-HTN3


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 DAB2IP-HTN3


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 DAB2IP-HTN3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneDAB2IPC0024121Lung Neoplasms1CTD_human
HgeneDAB2IPC0027051Myocardial Infarction1CTD_human
HgeneDAB2IPC0033578Prostatic Neoplasms1CTD_human
HgeneDAB2IPC0034065Pulmonary Embolism1CTD_human
HgeneDAB2IPC0085096Peripheral Vascular Diseases1CTD_human
HgeneDAB2IPC0162871Aortic Aneurysm, Abdominal1CTD_human
HgeneDAB2IPC0242379Malignant neoplasm of lung1CTD_human
HgeneDAB2IPC0376358Malignant neoplasm of prostate1CTD_human
HgeneDAB2IPC0524702Pulmonary Thromboembolisms1CTD_human