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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:DAB2-ARSB

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: DAB2-ARSB
FusionPDB ID: 21224
FusionGDB2.0 ID: 21224
HgeneTgene
Gene symbol

DAB2

ARSB

Gene ID

1601

411

Gene nameDAB adaptor protein 2arylsulfatase B
SynonymsDOC-2|DOC2ASB|G4S|MPS6
Cytomap

5p13.1

5q14.1

Type of geneprotein-codingprotein-coding
Descriptiondisabled homolog 2DAB2, clathrin adaptor proteinDab, mitogen-responsive phosphoprotein, homolog 2adaptor molecule disabled-2differentially expressed in ovarian carcinoma 2differentially-expressed protein 2disabled homolog 2, mitogen-responsive phosparylsulfatase BN-acetylgalactosamine-4-sulfatase
Modification date2020031320200313
UniProtAcc

Q5VWQ8

P15848

Ensembl transtripts involved in fusion geneENST idsENST00000320816, ENST00000339788, 
ENST00000509337, ENST00000545653, 
ENST00000512525, 
ENST00000521800, 
ENST00000264914, ENST00000396151, 
ENST00000565165, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score10 X 9 X 5=45010 X 8 X 5=400
# samples 1111
** MAII scorelog2(11/450*10)=-2.03242147769238
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(11/400*10)=-1.86249647625006
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: DAB2 [Title/Abstract] AND ARSB [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)DAB2(39392467)-ARSB(78265015), # samples:3
Anticipated loss of major functional domain due to fusion event.DAB2-ARSB 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.
DAB2-ARSB 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.
DAB2-ARSB seems lost the major protein functional domain in Hgene partner, which is a tumor suppressor due to the frame-shifted ORF.
DAB2-ARSB seems lost the major protein functional domain in Tgene partner, which is a cell metabolism 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
HgeneDAB2

GO:0010718

positive regulation of epithelial to mesenchymal transition

15734730

HgeneDAB2

GO:0010862

positive regulation of pathway-restricted SMAD protein phosphorylation

11387212

HgeneDAB2

GO:0030511

positive regulation of transforming growth factor beta receptor signaling pathway

11387212

HgeneDAB2

GO:0043066

negative regulation of apoptotic process

15734730

HgeneDAB2

GO:0060391

positive regulation of SMAD protein signal transduction

11387212


check buttonFusion gene breakpoints across DAB2 (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 ARSB (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
ChimerDB4ACCTCGA-OR-A5J1-01ADAB2chr5

39392467

-ARSBchr5

78265015

-
ChimerDB4ACCTCGA-OR-A5J1DAB2chr5

39392466

-ARSBchr5

78265015

-


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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)
ENST00000509337DAB2chr539392467-ENST00000264914ARSBchr578265015-4888410471699550
ENST00000509337DAB2chr539392467-ENST00000396151ARSBchr578265015-1915410471339430
ENST00000509337DAB2chr539392467-ENST00000565165ARSBchr578265015-1371410471339430
ENST00000509337DAB2chr539392466-ENST00000264914ARSBchr578265015-4888410471699550
ENST00000509337DAB2chr539392466-ENST00000396151ARSBchr578265015-1915410471339430
ENST00000509337DAB2chr539392466-ENST00000565165ARSBchr578265015-1371410471339430

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
ENST00000509337ENST00000264914DAB2chr539392467-ARSBchr578265015-0.0004576340.99954236
ENST00000509337ENST00000396151DAB2chr539392467-ARSBchr578265015-0.001188010.99881196
ENST00000509337ENST00000565165DAB2chr539392467-ARSBchr578265015-0.0021893270.99781066
ENST00000509337ENST00000264914DAB2chr539392466-ARSBchr578265015-0.0004576340.99954236
ENST00000509337ENST00000396151DAB2chr539392466-ARSBchr578265015-0.001188010.99881196
ENST00000509337ENST00000565165DAB2chr539392466-ARSBchr578265015-0.0021893270.99781066

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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

>21224_21224_1_DAB2-ARSB_DAB2_chr5_39392466_ENST00000509337_ARSB_chr5_78265015_ENST00000264914_length(amino acids)=550AA_BP=121
MVLRFAACLLAMSNEVETSATNGQPDQQAAPKAPSKKEKKKGPEKTDEYLLARFKGDGVKYKAKLIGIDDVPDARGDKMSQDSMMKLKGM
AAAGRSQGQHKQRIWVNISLSGIKIIDEKTGIRTGLQHQIIWPCQPSCVPLDEKLLPQLLKEAGYTTHMVGKWHLGMYRKECLPTRRGFD
TYFGYLLGSEDYYSHERCTLIDALNVTRCALDFRDGEEVATGYKNMYSTNIFTKRAIALITNHPPEKPLFLYLALQSVHEPLQVPEEYLK
PYDFIQDKNRHHYAGMVSLMDEAVGNVTAALKSSGLWNNTVFIFSTDNGGQTLAGGNNWPLRGRKWSLWEGGVRGVGFVASPLLKQKGVK
NRELIHISDWLPTLVKLARGHTNGTKPLDGFDVWKTISEGSPSPRIELLHNIDPNFVDSSPCPRNSMAPAKDDSSLPEYSAFNTSVHAAI
RHGNWKLLTGYPGCGYWFPPPSQYNVSEIPSSDPPTKTLWLFDIDRDPEERHDLSREYPHIVTKLLSRLQFYHKHSVPVYFPAQDPRCDP

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

>21224_21224_2_DAB2-ARSB_DAB2_chr5_39392466_ENST00000509337_ARSB_chr5_78265015_ENST00000396151_length(amino acids)=430AA_BP=121
MVLRFAACLLAMSNEVETSATNGQPDQQAAPKAPSKKEKKKGPEKTDEYLLARFKGDGVKYKAKLIGIDDVPDARGDKMSQDSMMKLKGM
AAAGRSQGQHKQRIWVNISLSGIKIIDEKTGIRTGLQHQIIWPCQPSCVPLDEKLLPQLLKEAGYTTHMVGKWHLGMYRKECLPTRRGFD
TYFGYLLGSEDYYSHERCTLIDALNVTRCALDFRDGEEVATGYKNMYSTNIFTKRAIALITNHPPEKPLFLYLALQSVHEPLQVPEEYLK
PYDFIQDKNRHHYAGMVSLMDEAVGNVTAALKSSGLWNNTVFIFSTDNGGQTLAGGNNWPLRGRKWSLWEGGVRGVGFVASPLLKQKGVK

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

>21224_21224_3_DAB2-ARSB_DAB2_chr5_39392466_ENST00000509337_ARSB_chr5_78265015_ENST00000565165_length(amino acids)=430AA_BP=121
MVLRFAACLLAMSNEVETSATNGQPDQQAAPKAPSKKEKKKGPEKTDEYLLARFKGDGVKYKAKLIGIDDVPDARGDKMSQDSMMKLKGM
AAAGRSQGQHKQRIWVNISLSGIKIIDEKTGIRTGLQHQIIWPCQPSCVPLDEKLLPQLLKEAGYTTHMVGKWHLGMYRKECLPTRRGFD
TYFGYLLGSEDYYSHERCTLIDALNVTRCALDFRDGEEVATGYKNMYSTNIFTKRAIALITNHPPEKPLFLYLALQSVHEPLQVPEEYLK
PYDFIQDKNRHHYAGMVSLMDEAVGNVTAALKSSGLWNNTVFIFSTDNGGQTLAGGNNWPLRGRKWSLWEGGVRGVGFVASPLLKQKGVK

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

>21224_21224_4_DAB2-ARSB_DAB2_chr5_39392467_ENST00000509337_ARSB_chr5_78265015_ENST00000264914_length(amino acids)=550AA_BP=121
MVLRFAACLLAMSNEVETSATNGQPDQQAAPKAPSKKEKKKGPEKTDEYLLARFKGDGVKYKAKLIGIDDVPDARGDKMSQDSMMKLKGM
AAAGRSQGQHKQRIWVNISLSGIKIIDEKTGIRTGLQHQIIWPCQPSCVPLDEKLLPQLLKEAGYTTHMVGKWHLGMYRKECLPTRRGFD
TYFGYLLGSEDYYSHERCTLIDALNVTRCALDFRDGEEVATGYKNMYSTNIFTKRAIALITNHPPEKPLFLYLALQSVHEPLQVPEEYLK
PYDFIQDKNRHHYAGMVSLMDEAVGNVTAALKSSGLWNNTVFIFSTDNGGQTLAGGNNWPLRGRKWSLWEGGVRGVGFVASPLLKQKGVK
NRELIHISDWLPTLVKLARGHTNGTKPLDGFDVWKTISEGSPSPRIELLHNIDPNFVDSSPCPRNSMAPAKDDSSLPEYSAFNTSVHAAI
RHGNWKLLTGYPGCGYWFPPPSQYNVSEIPSSDPPTKTLWLFDIDRDPEERHDLSREYPHIVTKLLSRLQFYHKHSVPVYFPAQDPRCDP

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

>21224_21224_5_DAB2-ARSB_DAB2_chr5_39392467_ENST00000509337_ARSB_chr5_78265015_ENST00000396151_length(amino acids)=430AA_BP=121
MVLRFAACLLAMSNEVETSATNGQPDQQAAPKAPSKKEKKKGPEKTDEYLLARFKGDGVKYKAKLIGIDDVPDARGDKMSQDSMMKLKGM
AAAGRSQGQHKQRIWVNISLSGIKIIDEKTGIRTGLQHQIIWPCQPSCVPLDEKLLPQLLKEAGYTTHMVGKWHLGMYRKECLPTRRGFD
TYFGYLLGSEDYYSHERCTLIDALNVTRCALDFRDGEEVATGYKNMYSTNIFTKRAIALITNHPPEKPLFLYLALQSVHEPLQVPEEYLK
PYDFIQDKNRHHYAGMVSLMDEAVGNVTAALKSSGLWNNTVFIFSTDNGGQTLAGGNNWPLRGRKWSLWEGGVRGVGFVASPLLKQKGVK

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

>21224_21224_6_DAB2-ARSB_DAB2_chr5_39392467_ENST00000509337_ARSB_chr5_78265015_ENST00000565165_length(amino acids)=430AA_BP=121
MVLRFAACLLAMSNEVETSATNGQPDQQAAPKAPSKKEKKKGPEKTDEYLLARFKGDGVKYKAKLIGIDDVPDARGDKMSQDSMMKLKGM
AAAGRSQGQHKQRIWVNISLSGIKIIDEKTGIRTGLQHQIIWPCQPSCVPLDEKLLPQLLKEAGYTTHMVGKWHLGMYRKECLPTRRGFD
TYFGYLLGSEDYYSHERCTLIDALNVTRCALDFRDGEEVATGYKNMYSTNIFTKRAIALITNHPPEKPLFLYLALQSVHEPLQVPEEYLK
PYDFIQDKNRHHYAGMVSLMDEAVGNVTAALKSSGLWNNTVFIFSTDNGGQTLAGGNNWPLRGRKWSLWEGGVRGVGFVASPLLKQKGVK

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

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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/chr5:39392467/chr5:78265015)
- 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
DAB2

Q5VWQ8

ARSB

P15848

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: Removes sulfate groups from chondroitin-4-sulfate (C4S) and regulates its degradation (PubMed:19306108). Involved in the regulation of cell adhesion, cell migration and invasion in colonic epithelium (PubMed:19306108). In the central nervous system, is a regulator of neurite outgrowth and neuronal plasticity, acting through the control of sulfate glycosaminoglycans and neurocan levels (By similarity). {ECO:0000250|UniProtKB:P50430, ECO:0000269|PubMed:19306108}.

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

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneDAB2chr5:39392466chr5:78265015ENST00000320816-41545_196110.01191.0DomainPID
HgeneDAB2chr5:39392466chr5:78265015ENST00000339788-41445_196110.01036.3333333333333DomainPID
HgeneDAB2chr5:39392466chr5:78265015ENST00000509337-31345_196110.0805.0DomainPID
HgeneDAB2chr5:39392466chr5:78265015ENST00000545653-41445_196110.01149.0DomainPID
HgeneDAB2chr5:39392467chr5:78265015ENST00000320816-41545_196110.01191.0DomainPID
HgeneDAB2chr5:39392467chr5:78265015ENST00000339788-41445_196110.01036.3333333333333DomainPID
HgeneDAB2chr5:39392467chr5:78265015ENST00000509337-31345_196110.0805.0DomainPID
HgeneDAB2chr5:39392467chr5:78265015ENST00000545653-41445_196110.01149.0DomainPID
HgeneDAB2chr5:39392466chr5:78265015ENST00000320816-415293_295110.01191.0MotifNote=DPF 1
HgeneDAB2chr5:39392466chr5:78265015ENST00000320816-415298_300110.01191.0MotifNote=DPF 2
HgeneDAB2chr5:39392466chr5:78265015ENST00000339788-414293_295110.01036.3333333333333MotifNote=DPF 1
HgeneDAB2chr5:39392466chr5:78265015ENST00000339788-414298_300110.01036.3333333333333MotifNote=DPF 2
HgeneDAB2chr5:39392466chr5:78265015ENST00000509337-313293_295110.0805.0MotifNote=DPF 1
HgeneDAB2chr5:39392466chr5:78265015ENST00000509337-313298_300110.0805.0MotifNote=DPF 2
HgeneDAB2chr5:39392466chr5:78265015ENST00000545653-414293_295110.01149.0MotifNote=DPF 1
HgeneDAB2chr5:39392466chr5:78265015ENST00000545653-414298_300110.01149.0MotifNote=DPF 2
HgeneDAB2chr5:39392467chr5:78265015ENST00000320816-415293_295110.01191.0MotifNote=DPF 1
HgeneDAB2chr5:39392467chr5:78265015ENST00000320816-415298_300110.01191.0MotifNote=DPF 2
HgeneDAB2chr5:39392467chr5:78265015ENST00000339788-414293_295110.01036.3333333333333MotifNote=DPF 1
HgeneDAB2chr5:39392467chr5:78265015ENST00000339788-414298_300110.01036.3333333333333MotifNote=DPF 2
HgeneDAB2chr5:39392467chr5:78265015ENST00000509337-313293_295110.0805.0MotifNote=DPF 1
HgeneDAB2chr5:39392467chr5:78265015ENST00000509337-313298_300110.0805.0MotifNote=DPF 2
HgeneDAB2chr5:39392467chr5:78265015ENST00000545653-414293_295110.01149.0MotifNote=DPF 1
HgeneDAB2chr5:39392467chr5:78265015ENST00000545653-414298_300110.01149.0MotifNote=DPF 2


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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


check button Protein-protein interactors based on sequence similarity (STRING)
GeneSTRING network
DAB2
ARSB


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


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Related Drugs to DAB2-ARSB


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 DAB2-ARSB


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