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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: 9247

FusionGeneSummary for DAB2_ZIM2

check button Fusion gene summary
Fusion gene informationFusion gene name: DAB2_ZIM2
Fusion gene ID: 9247
HgeneTgene
Gene symbol

DAB2

ZIM2

Gene ID

1601

23619

Gene nameDAB2, clathrin adaptor proteinzinc finger imprinted 2
SynonymsDOC-2|DOC2ZNF656
Cytomap

5p13.1

19q13.43

Type of geneprotein-codingprotein-coding
Descriptiondisabled homolog 2Dab, mitogen-responsive phosphoprotein, homolog 2adaptor molecule disabled-2differentially expressed in ovarian carcinoma 2differentially-expressed protein 2disabled homolog 2, mitogen-responsive phosphoproteinzinc finger imprinted 2zinc finger protein 656
Modification date2018051920180523
UniProtAcc

P98082

Q9NZV7

Ensembl transtripts involved in fusion geneENST00000339788, ENST00000320816, 
ENST00000545653, ENST00000509337, 
ENST00000512525, 
ENST00000593711, 
ENST00000221722, ENST00000391708, 
ENST00000601070, ENST00000599935, 
ENST00000593931, 
Fusion gene scores* DoF score7 X 7 X 4=1962 X 2 X 1=4
# samples 72
** MAII scorelog2(7/196*10)=-1.48542682717024
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(2/4*10)=2.32192809488736
Context

PubMed: DAB2 [Title/Abstract] AND ZIM2 [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
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 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
ChiTaRS3.1BF996758DAB2chr5

39403305

+ZIM2chr19

57327577

+
* 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-intronENST00000339788ENST00000593711DAB2chr5

39403305

+ZIM2chr19

57327577

+
intron-intronENST00000339788ENST00000221722DAB2chr5

39403305

+ZIM2chr19

57327577

+
intron-intronENST00000339788ENST00000391708DAB2chr5

39403305

+ZIM2chr19

57327577

+
intron-intronENST00000339788ENST00000601070DAB2chr5

39403305

+ZIM2chr19

57327577

+
intron-intronENST00000339788ENST00000599935DAB2chr5

39403305

+ZIM2chr19

57327577

+
intron-intronENST00000339788ENST00000593931DAB2chr5

39403305

+ZIM2chr19

57327577

+
intron-intronENST00000320816ENST00000593711DAB2chr5

39403305

+ZIM2chr19

57327577

+
intron-intronENST00000320816ENST00000221722DAB2chr5

39403305

+ZIM2chr19

57327577

+
intron-intronENST00000320816ENST00000391708DAB2chr5

39403305

+ZIM2chr19

57327577

+
intron-intronENST00000320816ENST00000601070DAB2chr5

39403305

+ZIM2chr19

57327577

+
intron-intronENST00000320816ENST00000599935DAB2chr5

39403305

+ZIM2chr19

57327577

+
intron-intronENST00000320816ENST00000593931DAB2chr5

39403305

+ZIM2chr19

57327577

+
intron-intronENST00000545653ENST00000593711DAB2chr5

39403305

+ZIM2chr19

57327577

+
intron-intronENST00000545653ENST00000221722DAB2chr5

39403305

+ZIM2chr19

57327577

+
intron-intronENST00000545653ENST00000391708DAB2chr5

39403305

+ZIM2chr19

57327577

+
intron-intronENST00000545653ENST00000601070DAB2chr5

39403305

+ZIM2chr19

57327577

+
intron-intronENST00000545653ENST00000599935DAB2chr5

39403305

+ZIM2chr19

57327577

+
intron-intronENST00000545653ENST00000593931DAB2chr5

39403305

+ZIM2chr19

57327577

+
intron-intronENST00000509337ENST00000593711DAB2chr5

39403305

+ZIM2chr19

57327577

+
intron-intronENST00000509337ENST00000221722DAB2chr5

39403305

+ZIM2chr19

57327577

+
intron-intronENST00000509337ENST00000391708DAB2chr5

39403305

+ZIM2chr19

57327577

+
intron-intronENST00000509337ENST00000601070DAB2chr5

39403305

+ZIM2chr19

57327577

+
intron-intronENST00000509337ENST00000599935DAB2chr5

39403305

+ZIM2chr19

57327577

+
intron-intronENST00000509337ENST00000593931DAB2chr5

39403305

+ZIM2chr19

57327577

+
intron-intronENST00000512525ENST00000593711DAB2chr5

39403305

+ZIM2chr19

57327577

+
intron-intronENST00000512525ENST00000221722DAB2chr5

39403305

+ZIM2chr19

57327577

+
intron-intronENST00000512525ENST00000391708DAB2chr5

39403305

+ZIM2chr19

57327577

+
intron-intronENST00000512525ENST00000601070DAB2chr5

39403305

+ZIM2chr19

57327577

+
intron-intronENST00000512525ENST00000599935DAB2chr5

39403305

+ZIM2chr19

57327577

+
intron-intronENST00000512525ENST00000593931DAB2chr5

39403305

+ZIM2chr19

57327577

+

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FusionProtFeatures for DAB2_ZIM2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
DAB2

P98082

ZIM2

Q9NZV7

Adapter protein that functions as clathrin-associatedsorting protein (CLASP) required for clathrin-mediated endocytosisof selected cargo proteins. Can bind and assemble clathrin, andbinds simultaneously to phosphatidylinositol 4,5-bisphosphate(PtdIns(4,5)P2) and cargos containing non-phosphorylated NPXYinternalization motifs, such as the LDL receptor, to recruit themto clathrin-coated pits. Can function in clathrin-mediatedendocytosis independently of the AP-2 complex. Involved inendocytosis of integrin beta-1; this function seems to redundantwith the AP-2 complex and seems to require DAB2 binding toendocytosis accessory EH domain-containing proteins such as EPS15,EPS15L1 and ITSN1. Involved in endocytosis of cystic fibrosistransmembrane conductance regulator/CFTR. Involved in endocytosisof megalin/LRP2 lipoprotein receptor during embryonal development.Required for recycling of the TGF-beta receptor. Involved in CFTRtrafficking to the late endosome. Involved in several receptor-mediated signaling pathways. Involved in TGF-beta receptorsignaling and facilitates phosphorylation of the signal transducerSMAD2. Mediates TFG-beta-stimulated JNK activation. May inhibitthe canoniocal Wnt/beta-catenin signaling pathway by stabilizingthe beta-catenin destruction complex through a competingassociation with axin preventing its dephosphorylation throughprotein phosphatase 1 (PP1). Sequesters LRP6 towards clathrin-mediated endocytosis, leading to inhibition of Wnt/beta-cateninsignaling. May activate non-canonical Wnt signaling. In cellsurface growth factor/Ras signaling pathways proposed to inhibitERK activation by interrupting the binding of GRB2 to SOS1 and toinhibit SRC by preventing its activating phosphorylation at 'Tyr-419'. Proposed to be involved in modulation of androgen receptor(AR) signaling mediated by SRC activation; seems to compete withAR for interaction with SRC. Plays a role in the CSF-1 signaltransduction pathway. Plays a role in cellular differentiation.Involved in cell positioning and formation of visceral endoderm(VE) during embryogenesis and proposed to be required in the VE torespond to Nodal signaling coming from the epiblast. Required forthe epithelial to mesenchymal transition, a process necessary forproper embryonic development. May be involved in myeloid celldifferentiation and can induce macrophage adhesion and spreading.May act as a tumor suppressor. {ECO:0000269|PubMed:11387212,ECO:0000269|PubMed:12805222, ECO:0000269|PubMed:16267015,ECO:0000269|PubMed:16984970, ECO:0000269|PubMed:19306879,ECO:0000269|PubMed:21995445, ECO:0000269|PubMed:22323290,ECO:0000269|PubMed:22491013}. May be involved in transcriptional regulation.

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 DAB2_ZIM2


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 DAB2_ZIM2


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 DAB2_ZIM2


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 DAB2_ZIM2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneZIM2C0010606Adenoid Cystic Carcinoma1CTD_human
TgeneZIM2C0036095Salivary Gland Neoplasms1CTD_human