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Fusion gene ID: 9237 |
FusionGeneSummary for DAB2IP_HTN3 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: DAB2IP_HTN3 | Fusion gene ID: 9237 | Hgene | Tgene | Gene symbol | DAB2IP | HTN3 | Gene ID | 153090 | 3347 |
| Gene name | DAB2 interacting protein | histatin 3 | |
| Synonyms | AF9Q34|AIP-1|AIP1|DIP1/2 | HIS2|HTN2|HTN5 | |
| Cytomap | 9q33.2 | 4q13.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | disabled homolog 2-interacting proteinASK-interacting protein 1ASK1-interacting protein 1DAB2 interaction proteinDOC-2/DAB2 interactive proteinnGAP-like protein | histatin-3PBbasic histidine-rich proteinhistatin-4histatin-5histatin-6histatin-7histatin-8histatin-9histidine-rich protein 3hst | |
| Modification date | 20180522 | 20180519 | |
| UniProtAcc | Q5VWQ8 | P15516 | |
| Ensembl transtripts involved in fusion gene | ENST00000259371, ENST00000408936, ENST00000309989, ENST00000487716, | ENST00000526767, ENST00000530128, ENST00000381057, | |
| Fusion gene scores | * DoF score | 5 X 5 X 4=100 | 4 X 4 X 2=32 |
| # samples | 5 | 4 | |
| ** MAII score | log2(5/100*10)=-1 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] | ||
| 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) |
| Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Partner | Gene | GO ID | GO term | PubMed ID |
| Hgene | DAB2IP | GO:0000122 | negative regulation of transcription by RNA polymerase II | 15310755 |
| Hgene | DAB2IP | GO:0000185 | activation of MAPKKK activity | 19903888 |
| Hgene | DAB2IP | GO:0007257 | activation of JUN kinase activity | 12813029 |
| Hgene | DAB2IP | GO:0008285 | negative regulation of cell proliferation | 19903888 |
| Hgene | DAB2IP | GO:0010719 | negative regulation of epithelial to mesenchymal transition | 20154697 |
| Hgene | DAB2IP | GO:0014067 | negative regulation of phosphatidylinositol 3-kinase signaling | 19903888 |
| Hgene | DAB2IP | GO:0016525 | negative regulation of angiogenesis | 19033661 |
| Hgene | DAB2IP | GO:0034144 | negative regulation of toll-like receptor 4 signaling pathway | 19948740 |
| Hgene | DAB2IP | GO:0035924 | cellular response to vascular endothelial growth factor stimulus | 19033661 |
| Hgene | DAB2IP | GO:0043065 | positive regulation of apoptotic process | 17389591|19903888 |
| Hgene | DAB2IP | GO:0043124 | negative regulation of I-kappaB kinase/NF-kappaB signaling | 15310755|17389591 |
| Hgene | DAB2IP | GO:0043254 | regulation of protein complex assembly | 19948740 |
| Hgene | DAB2IP | GO:0043407 | negative regulation of MAP kinase activity | 12813029 |
| Hgene | DAB2IP | GO:0043410 | positive regulation of MAPK cascade | 19903888 |
| Hgene | DAB2IP | GO:0043497 | regulation of protein heterodimerization activity | 18281285 |
| Hgene | DAB2IP | GO:0043507 | positive regulation of JUN kinase activity | 15310755 |
| Hgene | DAB2IP | GO:0043553 | negative regulation of phosphatidylinositol 3-kinase activity | 19903888 |
| Hgene | DAB2IP | GO:0044257 | cellular protein catabolic process | 17389591 |
| Hgene | DAB2IP | GO:0045944 | positive regulation of transcription by RNA polymerase II | 15310755|17389591 |
| Hgene | DAB2IP | GO:0046330 | positive regulation of JNK cascade | 17389591|19903888 |
| Hgene | DAB2IP | GO:0070317 | negative regulation of G0 to G1 transition | 19903888 |
| Hgene | DAB2IP | GO:0070373 | negative regulation of ERK1 and ERK2 cascade | 19903888 |
| Hgene | DAB2IP | GO:0071158 | positive regulation of cell cycle arrest | 19903888 |
| Hgene | DAB2IP | GO:0071222 | cellular response to lipopolysaccharide | 19948740 |
| Hgene | DAB2IP | GO:0071347 | cellular response to interleukin-1 | 19948740 |
| Hgene | DAB2IP | GO:0071356 | cellular response to tumor necrosis factor | 12813029|15310755|17389591 |
| Hgene | DAB2IP | GO:0071901 | negative regulation of protein serine/threonine kinase activity | 19903888 |
| Hgene | DAB2IP | GO:0071902 | positive regulation of protein serine/threonine kinase activity | 19903888 |
| Hgene | DAB2IP | GO:1903363 | negative regulation of cellular protein catabolic process | 19903888 |
| Hgene | DAB2IP | GO:2001235 | positive regulation of apoptotic signaling pathway | 19903888 |
| 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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| TCGA | RV | BRCA | TCGA-A2-A0T1-01A | DAB2IP | chr9 | 124441060 | + | HTN3 | chr4 | 70896445 | + |
| TCGA | LD | BRCA | TCGA-A2-A0T1-01A | DAB2IP | chr9 | 124441060 | + | HTN3 | chr4 | 70894160 | + |
| * LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
| 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. |
| ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| 5CDS-5UTR | ENST00000259371 | ENST00000526767 | DAB2IP | chr9 | 124441060 | + | HTN3 | chr4 | 70896445 | + |
| 5CDS-5UTR | ENST00000259371 | ENST00000530128 | DAB2IP | chr9 | 124441060 | + | HTN3 | chr4 | 70896445 | + |
| 5CDS-5UTR | ENST00000259371 | ENST00000381057 | DAB2IP | chr9 | 124441060 | + | HTN3 | chr4 | 70896445 | + |
| 5CDS-5UTR | ENST00000408936 | ENST00000526767 | DAB2IP | chr9 | 124441060 | + | HTN3 | chr4 | 70896445 | + |
| 5CDS-5UTR | ENST00000408936 | ENST00000530128 | DAB2IP | chr9 | 124441060 | + | HTN3 | chr4 | 70896445 | + |
| 5CDS-5UTR | ENST00000408936 | ENST00000381057 | DAB2IP | chr9 | 124441060 | + | HTN3 | chr4 | 70896445 | + |
| intron-5UTR | ENST00000309989 | ENST00000526767 | DAB2IP | chr9 | 124441060 | + | HTN3 | chr4 | 70896445 | + |
| intron-5UTR | ENST00000309989 | ENST00000530128 | DAB2IP | chr9 | 124441060 | + | HTN3 | chr4 | 70896445 | + |
| intron-5UTR | ENST00000309989 | ENST00000381057 | DAB2IP | chr9 | 124441060 | + | HTN3 | chr4 | 70896445 | + |
| intron-5UTR | ENST00000487716 | ENST00000526767 | DAB2IP | chr9 | 124441060 | + | HTN3 | chr4 | 70896445 | + |
| intron-5UTR | ENST00000487716 | ENST00000530128 | DAB2IP | chr9 | 124441060 | + | HTN3 | chr4 | 70896445 | + |
| intron-5UTR | ENST00000487716 | ENST00000381057 | DAB2IP | chr9 | 124441060 | + | HTN3 | chr4 | 70896445 | + |
| 5CDS-5UTR | ENST00000259371 | ENST00000526767 | DAB2IP | chr9 | 124441060 | + | HTN3 | chr4 | 70894160 | + |
| 5CDS-intron | ENST00000259371 | ENST00000530128 | DAB2IP | chr9 | 124441060 | + | HTN3 | chr4 | 70894160 | + |
| 5CDS-intron | ENST00000259371 | ENST00000381057 | DAB2IP | chr9 | 124441060 | + | HTN3 | chr4 | 70894160 | + |
| 5CDS-5UTR | ENST00000408936 | ENST00000526767 | DAB2IP | chr9 | 124441060 | + | HTN3 | chr4 | 70894160 | + |
| 5CDS-intron | ENST00000408936 | ENST00000530128 | DAB2IP | chr9 | 124441060 | + | HTN3 | chr4 | 70894160 | + |
| 5CDS-intron | ENST00000408936 | ENST00000381057 | DAB2IP | chr9 | 124441060 | + | HTN3 | chr4 | 70894160 | + |
| intron-5UTR | ENST00000309989 | ENST00000526767 | DAB2IP | chr9 | 124441060 | + | HTN3 | chr4 | 70894160 | + |
| intron-intron | ENST00000309989 | ENST00000530128 | DAB2IP | chr9 | 124441060 | + | HTN3 | chr4 | 70894160 | + |
| intron-intron | ENST00000309989 | ENST00000381057 | DAB2IP | chr9 | 124441060 | + | HTN3 | chr4 | 70894160 | + |
| intron-5UTR | ENST00000487716 | ENST00000526767 | DAB2IP | chr9 | 124441060 | + | HTN3 | chr4 | 70894160 | + |
| intron-intron | ENST00000487716 | ENST00000530128 | DAB2IP | chr9 | 124441060 | + | HTN3 | chr4 | 70894160 | + |
| intron-intron | ENST00000487716 | ENST00000381057 | DAB2IP | chr9 | 124441060 | + | HTN3 | chr4 | 70894160 | + |
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FusionProtFeatures for DAB2IP_HTN3 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| DAB2IP | HTN3 |
| 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}. | Histatins are salivary proteins that are considered tobe major precursors of the protective proteinaceous structure ontooth surfaces (enamel pellicle). In addition, histatins exhibitantibacterial and antifungal activities. His3-(20-43)-peptide(histatin-5) is especially effective against C.albicans andC.neoformans, and inhibits Lys-gingipain and Arg-gingipain (rgpB)from P.gingivalis. In addition, His3-(20-43)-peptide is a potentinhibitor of metalloproteinases MMP2 and MMP9.{ECO:0000269|PubMed:11179305, ECO:0000269|PubMed:8945538}. |
| Retention 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 . * 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. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
| - In-frame and not-retained protein feature among the 13 regional features. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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FusionGeneSequence for DAB2IP_HTN3 |
| 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 DAB2IP_HTN3 |
| Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
| Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
| Hgene | Hgene's interactors | Tgene | Tgene's interactors |
| DAB2IP | DAB2, 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 | HTN3 | HSPA8 |
| - Retained PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| - Lost PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
| - Retained PPIs, but lost function due to frame-shift fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for DAB2IP_HTN3 |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for DAB2IP_HTN3 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | DAB2IP | C0024121 | Lung Neoplasms | 1 | CTD_human |
| Hgene | DAB2IP | C0027051 | Myocardial Infarction | 1 | CTD_human |
| Hgene | DAB2IP | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
| Hgene | DAB2IP | C0034065 | Pulmonary Embolism | 1 | CTD_human |
| Hgene | DAB2IP | C0085096 | Peripheral Vascular Diseases | 1 | CTD_human |
| Hgene | DAB2IP | C0162871 | Aortic Aneurysm, Abdominal | 1 | CTD_human |
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