FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact

Center for Computational Systems Medicine
leaf

FusionGeneSummary

leaf

FusionProtFeature

leaf

FusionGeneSequence

leaf

FusionGenePPI

leaf

RelatedDrugs

leaf

RelatedDiseases

Fusion gene ID: 36635

FusionGeneSummary for STX17_DAB2IP

check button Fusion gene summary
Fusion gene informationFusion gene name: STX17_DAB2IP
Fusion gene ID: 36635
HgeneTgene
Gene symbol

STX17

DAB2IP

Gene ID

55014

153090

Gene namesyntaxin 17DAB2 interacting protein
Synonyms-AF9Q34|AIP-1|AIP1|DIP1/2
Cytomap

9q31.1

9q33.2

Type of geneprotein-codingprotein-coding
Descriptionsyntaxin-17disabled homolog 2-interacting proteinASK-interacting protein 1ASK1-interacting protein 1DAB2 interaction proteinDOC-2/DAB2 interactive proteinnGAP-like protein
Modification date2018052620180522
UniProtAcc

P56962

Q5VWQ8

Ensembl transtripts involved in fusion geneENST00000259400, ENST00000525640, 
ENST00000534052, ENST00000525847, 
ENST00000259371, ENST00000408936, 
ENST00000309989, ENST00000487716, 
Fusion gene scores* DoF score3 X 4 X 4=489 X 9 X 3=243
# samples 410
** MAII scorelog2(4/48*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(10/243*10)=-1.28095631383106
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: STX17 [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
HgeneSTX17

GO:0016240

autophagosome membrane docking

25686604

HgeneSTX17

GO:0034497

protein localization to phagophore assembly site

23455425

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
TCGALDPRADTCGA-XQ-A8TA-01ASTX17chr9

102668988

+DAB2IPchr9

124519292

+
* 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
5UTR-3CDSENST00000259400ENST00000259371STX17chr9

102668988

+DAB2IPchr9

124519292

+
5UTR-3CDSENST00000259400ENST00000408936STX17chr9

102668988

+DAB2IPchr9

124519292

+
5UTR-5UTRENST00000259400ENST00000309989STX17chr9

102668988

+DAB2IPchr9

124519292

+
5UTR-3UTRENST00000259400ENST00000487716STX17chr9

102668988

+DAB2IPchr9

124519292

+
intron-3CDSENST00000525640ENST00000259371STX17chr9

102668988

+DAB2IPchr9

124519292

+
intron-3CDSENST00000525640ENST00000408936STX17chr9

102668988

+DAB2IPchr9

124519292

+
intron-5UTRENST00000525640ENST00000309989STX17chr9

102668988

+DAB2IPchr9

124519292

+
intron-3UTRENST00000525640ENST00000487716STX17chr9

102668988

+DAB2IPchr9

124519292

+
intron-3CDSENST00000534052ENST00000259371STX17chr9

102668988

+DAB2IPchr9

124519292

+
intron-3CDSENST00000534052ENST00000408936STX17chr9

102668988

+DAB2IPchr9

124519292

+
intron-5UTRENST00000534052ENST00000309989STX17chr9

102668988

+DAB2IPchr9

124519292

+
intron-3UTRENST00000534052ENST00000487716STX17chr9

102668988

+DAB2IPchr9

124519292

+
intron-3CDSENST00000525847ENST00000259371STX17chr9

102668988

+DAB2IPchr9

124519292

+
intron-3CDSENST00000525847ENST00000408936STX17chr9

102668988

+DAB2IPchr9

124519292

+
intron-5UTRENST00000525847ENST00000309989STX17chr9

102668988

+DAB2IPchr9

124519292

+
intron-3UTRENST00000525847ENST00000487716STX17chr9

102668988

+DAB2IPchr9

124519292

+

Top

FusionProtFeatures for STX17_DAB2IP


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
STX17

P56962

DAB2IP

Q5VWQ8

SNAREs, soluble N-ethylmaleimide-sensitive factor-attachment protein receptors, are essential proteins for fusion ofcellular membranes. SNAREs localized on opposing membranesassemble to form a trans-SNARE complex, an extended, parallel fouralpha-helical bundle that drives membrane fusion. STX17 is a SNAREof the autophagosome involved in autophagy through the directcontrol of autophagosome membrane fusion with the lysosomemembrane (PubMed:23217709, PubMed:25686604). May also play a rolein the early secretory pathway where it may maintain thearchitecture of the endoplasmic reticulum-Golgi intermediatecompartment/ERGIC and Golgi and/or regulate transport between theendoplasmic reticulum, the ERGIC and the Golgi (PubMed:21545355).{ECO:0000269|PubMed:21545355, ECO:0000269|PubMed:23217709,ECO:0000269|PubMed:25686604}. 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


Top

FusionGeneSequence for STX17_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).

Top

FusionGenePPI for STX17_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
STX17STX5, SNAP29, VPS33A, VPS16, VPS11, VPS18, VPS39, VPS41, PPM1E, EYA3, C5AR2, TMCO3DAB2IPDAB2, TP53, TP63, TP73, YWHAQ, TRAF2, RIPK1, MAP3K5, TNFRSF1A, TRADD, PIK3R1, AKT1, HRAS, CUL1, CUL4A, SKP1, RBX1, FBXW7, RFPL3, NTRK1, XPO1, EXOSC9, RAB4B, IWS1, UGGT1, RNASEH2B, CDH1, CTDSPL, ANKS1A, CLIP1, MCC, CD83, CGN, TMEM206, SNX17, CBY1, TRIM25


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


Top

RelatedDrugs for STX17_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

Top

RelatedDiseases for STX17_DAB2IP


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneSTX17C0002171Alopecia Areata1CTD_human
HgeneSTX17C0025202melanoma1CTD_human
TgeneDAB2IPC0024121Lung Neoplasms1CTD_human
TgeneDAB2IPC0027051Myocardial Infarction1CTD_human
TgeneDAB2IPC0033578Prostatic Neoplasms1CTD_human
TgeneDAB2IPC0034065Pulmonary Embolism1CTD_human
TgeneDAB2IPC0085096Peripheral Vascular Diseases1CTD_human
TgeneDAB2IPC0162871Aortic Aneurysm, Abdominal1CTD_human