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Center for Computational Systems Medicine level1
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Fusion Gene Summary

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Fusion Gene Sample Information

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Fusion ORF Analysis

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Fusion Amino Acid Sequences

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Fusion Protein Functional Features

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Fusion Protein-Protein Interaction

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Related drugs with this fusion protein

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Related disease with this fusion protein

Fusion Protein:DAB2IP-ATXN1

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: DAB2IP-ATXN1
FusionPDB ID: 21229
FusionGDB2.0 ID: 21229
HgeneTgene
Gene symbol

DAB2IP

ATXN1

Gene ID

153090

6310

Gene nameDAB2 interacting proteinataxin 1
SynonymsAF9Q34|AIP-1|AIP1|DIP1/2ATX1|D6S504E|SCA1
Cytomap

9q33.2

6p22.3

Type of geneprotein-codingprotein-coding
Descriptiondisabled homolog 2-interacting proteinASK-interacting protein 1ASK1-interacting protein 1DAB2 interaction proteinDOC-2/DAB2 interactive proteinnGAP-like proteinataxin-1alternative ataxin1spinocerebellar ataxia type 1 protein
Modification date2020031320200313
UniProtAcc

Q5VWQ8

Q9UBB4

Ensembl transtripts involved in fusion geneENST idsENST00000259371, ENST00000408936, 
ENST00000309989, ENST00000487716, 
ENST00000467008, ENST00000436367, 
ENST00000244769, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score12 X 10 X 8=96011 X 13 X 4=572
# samples 1212
** MAII scorelog2(12/960*10)=-3
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(12/572*10)=-2.25298074116987
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: DAB2IP [Title/Abstract] AND ATXN1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)DAB2IP(124461737)-ATXN1(16307090), # samples:1
Anticipated loss of major functional domain due to fusion event.DAB2IP-ATXN1 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
DAB2IP-ATXN1 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
DAB2IP-ATXN1 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
DAB2IP-ATXN1 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
DAB2IP-ATXN1 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
DAB2IP-ATXN1 seems lost the major protein functional domain in Hgene partner, which is a tumor suppressor due to the frame-shifted ORF.
DAB2IP-ATXN1 seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF.
* 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

TgeneATXN1

GO:0045892

negative regulation of transcription, DNA-templated

15016912

TgeneATXN1

GO:0051168

nuclear export

15615787


check buttonFusion gene breakpoints across DAB2IP (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check buttonFusion gene breakpoints across ATXN1 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure


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Fusion Gene Sample Information

check buttonFusion gene information from FusionGDB2.0.
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
ChimerDB4Non-CancerSPNT_276DAB2IPchr9

124461737

+ATXN1chr6

16307090

-


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Fusion ORF Analysis


check buttonFusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)
ENST00000259371DAB2IPchr9124461737+ENST00000244769ATXN1chr616307090-809534742903706194
ENST00000408936DAB2IPchr9124461737+ENST00000244769ATXN1chr616307090-829254444873903194

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 Amino Acid Sequences


check button For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP

>21229_21229_1_DAB2IP-ATXN1_DAB2IP_chr9_124461737_ENST00000259371_ATXN1_chr6_16307090_ENST00000244769_length(amino acids)=194AA_BP=
MLWEPRGPPTSANRRLLPSVRSSYLKRKLPQGSGDRGWQVVPSTATGQHAQNAHTQQATLPVQAQRQGSKSQGHRPRGGACPLAEKTVEN
GLTPGYMAPECVLEMNLPPSSPHSTFTIPCGDRGHCGSSPGSPWLALSATWRQTHGAPEGSPPQHSASAAGERWEALSLLAPSLQPCSGQ

--------------------------------------------------------------

>21229_21229_2_DAB2IP-ATXN1_DAB2IP_chr9_124461737_ENST00000408936_ATXN1_chr6_16307090_ENST00000244769_length(amino acids)=194AA_BP=
MLWEPRGPPTSANRRLLPSVRSSYLKRKLPQGSGDRGWQVVPSTATGQHAQNAHTQQATLPVQAQRQGSKSQGHRPRGGACPLAEKTVEN
GLTPGYMAPECVLEMNLPPSSPHSTFTIPCGDRGHCGSSPGSPWLALSATWRQTHGAPEGSPPQHSASAAGERWEALSLLAPSLQPCSGQ

--------------------------------------------------------------

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Fusion Protein Functional Features


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/chr9:124461737/chr6:16307090)
- 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

ATXN1

Q9UBB4

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: Necessary for the survival of cerebellar neurons. Induces neuritogenesis by activating the Ras-MAP kinase pathway. May play a role in the maintenance of a critical intracellular glycosylation level and homeostasis. {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.
- Retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneDAB2IPchr9:124461737chr6:16307090ENST00000259371+3178_5292.666666666666671133.0Compositional biasNote=Arg-rich
HgeneDAB2IPchr9:124461737chr6:16307090ENST00000408936+316112_117120.666666666666671190.0Compositional biasNote=Poly-Ala
HgeneDAB2IPchr9:124461737chr6:16307090ENST00000408936+3168_52120.666666666666671190.0Compositional biasNote=Arg-rich
TgeneATXN1chr9:124461737chr6:16307090ENST0000024476979794_797639.0816.0MotifNuclear localization signal
TgeneATXN1chr9:124461737chr6:16307090ENST0000043636768794_797639.0816.0MotifNuclear localization signal

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneDAB2IPchr9:124461737chr6:16307090ENST00000259371+3171026_115992.666666666666671133.0Coiled coilOntology_term=ECO:0000255
HgeneDAB2IPchr9:124461737chr6:16307090ENST00000309989+1141026_115901066.0Coiled coilOntology_term=ECO:0000255
HgeneDAB2IPchr9:124461737chr6:16307090ENST00000408936+3161026_1159120.666666666666671190.0Coiled coilOntology_term=ECO:0000255
HgeneDAB2IPchr9:124461737chr6:16307090ENST00000259371+317112_11792.666666666666671133.0Compositional biasNote=Poly-Ala
HgeneDAB2IPchr9:124461737chr6:16307090ENST00000259371+317867_87092.666666666666671133.0Compositional biasNote=Poly-Ala
HgeneDAB2IPchr9:124461737chr6:16307090ENST00000259371+317903_94892.666666666666671133.0Compositional biasNote=Pro-rich
HgeneDAB2IPchr9:124461737chr6:16307090ENST00000309989+114112_11701066.0Compositional biasNote=Poly-Ala
HgeneDAB2IPchr9:124461737chr6:16307090ENST00000309989+114867_87001066.0Compositional biasNote=Poly-Ala
HgeneDAB2IPchr9:124461737chr6:16307090ENST00000309989+1148_5201066.0Compositional biasNote=Arg-rich
HgeneDAB2IPchr9:124461737chr6:16307090ENST00000309989+114903_94801066.0Compositional biasNote=Pro-rich
HgeneDAB2IPchr9:124461737chr6:16307090ENST00000408936+316867_870120.666666666666671190.0Compositional biasNote=Poly-Ala
HgeneDAB2IPchr9:124461737chr6:16307090ENST00000408936+316903_948120.666666666666671190.0Compositional biasNote=Pro-rich
HgeneDAB2IPchr9:124461737chr6:16307090ENST00000259371+317101_20292.666666666666671133.0DomainPH
HgeneDAB2IPchr9:124461737chr6:16307090ENST00000259371+317193_31192.666666666666671133.0DomainC2
HgeneDAB2IPchr9:124461737chr6:16307090ENST00000259371+317371_56392.666666666666671133.0DomainRas-GAP
HgeneDAB2IPchr9:124461737chr6:16307090ENST00000309989+114101_20201066.0DomainPH
HgeneDAB2IPchr9:124461737chr6:16307090ENST00000309989+114193_31101066.0DomainC2
HgeneDAB2IPchr9:124461737chr6:16307090ENST00000309989+114371_56301066.0DomainRas-GAP
HgeneDAB2IPchr9:124461737chr6:16307090ENST00000408936+316101_202120.666666666666671190.0DomainPH
HgeneDAB2IPchr9:124461737chr6:16307090ENST00000408936+316193_311120.666666666666671190.0DomainC2
HgeneDAB2IPchr9:124461737chr6:16307090ENST00000408936+316371_563120.666666666666671190.0DomainRas-GAP
TgeneATXN1chr9:124461737chr6:16307090ENST0000024476979197_225639.0816.0Compositional biasNote=Poly-Gln
TgeneATXN1chr9:124461737chr6:16307090ENST0000043636768197_225639.0816.0Compositional biasNote=Poly-Gln
TgeneATXN1chr9:124461737chr6:16307090ENST0000024476979562_693639.0816.0DomainAXH
TgeneATXN1chr9:124461737chr6:16307090ENST0000043636768562_693639.0816.0DomainAXH
TgeneATXN1chr9:124461737chr6:16307090ENST0000024476979494_604639.0816.0RegionSelf-association
TgeneATXN1chr9:124461737chr6:16307090ENST0000024476979540_766639.0816.0RegionRNA-binding
TgeneATXN1chr9:124461737chr6:16307090ENST0000043636768494_604639.0816.0RegionSelf-association
TgeneATXN1chr9:124461737chr6:16307090ENST0000043636768540_766639.0816.0RegionRNA-binding


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Fusion Protein-Protein Interaction


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 from validated records (BIOGRID-3.4.160)
GenePPI interactors
DAB2IPDAB2, 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, Cdk1, Shoc2, Mis12, Cep152, CDH1, CTDSPL, ANKS1A, CLIP1, MCC, CD83, CGN, TMEM206, SNX17, CBY1, TRIM25, NRAS, KIAA1429, E6, YWHAE, nsp16, C11orf52, KRAS, LYN, OCLN, RAB35, RHOB, SMARCA2, CLEC4A, TMEM9, RASAL2, ANKS1B, EFNB1, YWHAB, YWHAG, YWHAH, SLC31A1, ASXL2, DDX3Y,


check button Protein-protein interactors based on sequence similarity (STRING)
GeneSTRING network
DAB2IPall structure
ATXN1


check button - Retained interactions in fusion protein (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost interactions due to fusion (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with
TgeneATXN1chr9:124461737chr6:16307090ENST0000024476979538_815639.0816.0USP7
TgeneATXN1chr9:124461737chr6:16307090ENST0000043636768538_815639.0816.0USP7


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Related Drugs to DAB2IP-ATXN1


check button Drugs used for this fusion-positive patient.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDrugSourcePMID

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Related Diseases to DAB2IP-ATXN1


check button Diseases that have this fusion gene.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDiseaseSourcePMID

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