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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 11814

FusionGeneSummary for EPHA7_DAB2IP

check button Fusion gene summary
Fusion gene informationFusion gene name: EPHA7_DAB2IP
Fusion gene ID: 11814
HgeneTgene
Gene symbol

EPHA7

DAB2IP

Gene ID

2045

153090

Gene nameEPH receptor A7DAB2 interacting protein
SynonymsEHK-3|EHK3|EK11|HEK11AF9Q34|AIP-1|AIP1|DIP1/2
Cytomap

6q16.1

9q33.2

Type of geneprotein-codingprotein-coding
Descriptionephrin type-A receptor 7EPH homology kinase 3EPH-like kinase 11Eph homology kinase-3receptor protein-tyrosine kinase HEK11tyrosine-protein kinase receptor EHK-3disabled homolog 2-interacting proteinASK-interacting protein 1ASK1-interacting protein 1DAB2 interaction proteinDOC-2/DAB2 interactive proteinnGAP-like protein
Modification date2018052320180522
UniProtAcc

Q15375

Q5VWQ8

Ensembl transtripts involved in fusion geneENST00000369303, ENST00000369297, 
ENST00000259371, ENST00000408936, 
ENST00000309989, ENST00000487716, 
Fusion gene scores* DoF score2 X 2 X 2=89 X 9 X 3=243
# samples 210
** MAII scorelog2(2/8*10)=1.32192809488736log2(10/243*10)=-1.28095631383106
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: EPHA7 [Title/Abstract] AND DAB2IP [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotation
* 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
HgeneEPHA7

GO:0048013

ephrin receptor signaling pathway

17726105

HgeneEPHA7

GO:0050730

regulation of peptidyl-tyrosine phosphorylation

17726105

HgeneEPHA7

GO:0070372

regulation of ERK1 and ERK2 cascade

17726105

TgeneDAB2IP

GO:0000122

negative regulation of transcription by RNA polymerase II

15310755

TgeneDAB2IP

GO:0000185

activation of MAPKKK activity

19903888

TgeneDAB2IP

GO:0007257

activation of JUN kinase activity

12813029

TgeneDAB2IP

GO:0008285

negative regulation of cell proliferation

19903888

TgeneDAB2IP

GO:0010719

negative regulation of epithelial to mesenchymal transition

20154697

TgeneDAB2IP

GO:0014067

negative regulation of phosphatidylinositol 3-kinase signaling

19903888

TgeneDAB2IP

GO:0016525

negative regulation of angiogenesis

19033661

TgeneDAB2IP

GO:0034144

negative regulation of toll-like receptor 4 signaling pathway

19948740

TgeneDAB2IP

GO:0035924

cellular response to vascular endothelial growth factor stimulus

19033661

TgeneDAB2IP

GO:0043065

positive regulation of apoptotic process

17389591|19903888

TgeneDAB2IP

GO:0043124

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

15310755|17389591

TgeneDAB2IP

GO:0043254

regulation of protein complex assembly

19948740

TgeneDAB2IP

GO:0043407

negative regulation of MAP kinase activity

12813029

TgeneDAB2IP

GO:0043410

positive regulation of MAPK cascade

19903888

TgeneDAB2IP

GO:0043497

regulation of protein heterodimerization activity

18281285

TgeneDAB2IP

GO:0043507

positive regulation of JUN kinase activity

15310755

TgeneDAB2IP

GO:0043553

negative regulation of phosphatidylinositol 3-kinase activity

19903888

TgeneDAB2IP

GO:0044257

cellular protein catabolic process

17389591

TgeneDAB2IP

GO:0045944

positive regulation of transcription by RNA polymerase II

15310755|17389591

TgeneDAB2IP

GO:0046330

positive regulation of JNK cascade

17389591|19903888

TgeneDAB2IP

GO:0070317

negative regulation of G0 to G1 transition

19903888

TgeneDAB2IP

GO:0070373

negative regulation of ERK1 and ERK2 cascade

19903888

TgeneDAB2IP

GO:0071158

positive regulation of cell cycle arrest

19903888

TgeneDAB2IP

GO:0071222

cellular response to lipopolysaccharide

19948740

TgeneDAB2IP

GO:0071347

cellular response to interleukin-1

19948740

TgeneDAB2IP

GO:0071356

cellular response to tumor necrosis factor

12813029|15310755|17389591

TgeneDAB2IP

GO:0071901

negative regulation of protein serine/threonine kinase activity

19903888

TgeneDAB2IP

GO:0071902

positive regulation of protein serine/threonine kinase activity

19903888

TgeneDAB2IP

GO:1903363

negative regulation of cellular protein catabolic process

19903888

TgeneDAB2IP

GO:2001235

positive regulation of apoptotic signaling pathway

19903888


check button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* 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.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChiTaRS3.1CB242031EPHA7chr6

94128225

+DAB2IPchr9

124547456

+
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

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-3UTRENST00000369303ENST00000259371EPHA7chr6

94128225

+DAB2IPchr9

124547456

+
intron-3UTRENST00000369303ENST00000408936EPHA7chr6

94128225

+DAB2IPchr9

124547456

+
intron-intronENST00000369303ENST00000309989EPHA7chr6

94128225

+DAB2IPchr9

124547456

+
intron-intronENST00000369303ENST00000487716EPHA7chr6

94128225

+DAB2IPchr9

124547456

+
intron-3UTRENST00000369297ENST00000259371EPHA7chr6

94128225

+DAB2IPchr9

124547456

+
intron-3UTRENST00000369297ENST00000408936EPHA7chr6

94128225

+DAB2IPchr9

124547456

+
intron-intronENST00000369297ENST00000309989EPHA7chr6

94128225

+DAB2IPchr9

124547456

+
intron-intronENST00000369297ENST00000487716EPHA7chr6

94128225

+DAB2IPchr9

124547456

+

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FusionProtFeatures for EPHA7_DAB2IP


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
EPHA7

Q15375

DAB2IP

Q5VWQ8

Functions as a scaffold protein implicated in theregulation of a large spectrum of both general and specializedsignaling pathways. Involved in several processes such as innateimmune response, inflammation and cell growth inhibition,apoptosis, cell survival, angiogenesis, cell migration andmaturation. Plays also a role in cell cycle checkpoint control;reduces G1 phase cyclin levels resulting in G0/G1 cell cyclearrest. Mediates signal transduction by receptor-mediatedinflammatory signals, such as the tumor necrosis factor (TNF),interferon (IFN) or lipopolysaccharide (LPS). Modulates thebalance between phosphatidylinositol 3-kinase (PI3K)-AKT-mediatedcell survival and apoptosis stimulated kinase (MAP3K5)-JNKsignaling pathways; sequesters both AKT1 and MAP3K5 andcounterbalances the activity of each kinase by modulating theirphosphorylation status in response to proinflammatory stimuli.Acts as a regulator of the endoplasmic reticulum (ER) unfoldedprotein response (UPR) pathway; specifically involved intransduction of the ER stress-response to the JNK cascade throughERN1. Mediates TNF-alpha-induced apoptosis activation byfacilitating dissociation of inhibitor 14-3-3 from MAP3K5;recruits the PP2A phosphatase complex which dephosphorylatesMAP3K5 on 'Ser-966', leading to the dissociation of 13-3-3proteins and activation of the MAP3K5-JNK signaling pathway inendothelial cells. Mediates also TNF/TRAF2-induced MAP3K5-JNKactivation, while it inhibits CHUK-NF-kappa-B signaling. Acts anegative regulator in the IFN-gamma-mediated JAK-STAT signalingcascade by inhibiting smooth muscle cell (VSMCs) proliferation andintimal expansion, and thus, prevents graft arteriosclerosis (GA).Acts as a GTPase-activating protein (GAP) for the ADP ribosylationfactor 6 (ARF6) and Ras. Promotes hydrolysis of the ARF6-bound GTPand thus, negatively regulates phosphatidylinositol 4,5-bisphosphate (PIP2)-dependent TLR4-TIRAP-MyD88 and NF-kappa-Bsignaling pathways in endothelial cells in response tolipopolysaccharides (LPS). Binds specifically tophosphatidylinositol 4-phosphate (PtdIns4P) andphosphatidylinositol 3-phosphate (PtdIns3P). In response tovascular endothelial growth factor (VEGFA), acts as a negativeregulator of the VEGFR2-PI3K-mediated angiogenic signaling pathwayby inhibiting endothelial cell migration and tube formation. Inthe developing brain, promotes both the transition from themultipolar to the bipolar stage and the radial migration ofcortical neurons from the ventricular zone toward the superficiallayer 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 ofcerebellar synapses. Functions also as a tumor suppressor proteinin prostate cancer progression; prevents cell proliferation andepithelial-to-mesenchymal transition (EMT) through activation ofthe glycogen synthase kinase-3 beta (GSK3B)-induced beta-cateninand inhibition of PI3K-AKT and Ras-MAPK survival downstreamsignaling 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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FusionGeneSequence for EPHA7_DAB2IP


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for EPHA7_DAB2IP


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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RelatedDrugs for EPHA7_DAB2IP


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for EPHA7_DAB2IP


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneEPHA7C0149925Small cell carcinoma of lung1CTD_human
TgeneDAB2IPC0024121Lung Neoplasms1CTD_human
TgeneDAB2IPC0027051Myocardial Infarction1CTD_human
TgeneDAB2IPC0033578Prostatic Neoplasms1CTD_human
TgeneDAB2IPC0034065Pulmonary Embolism1CTD_human
TgeneDAB2IPC0085096Peripheral Vascular Diseases1CTD_human
TgeneDAB2IPC0162871Aortic Aneurysm, Abdominal1CTD_human