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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: 27186

FusionGeneSummary for PIK3C3_DAB2

check button Fusion gene summary
Fusion gene informationFusion gene name: PIK3C3_DAB2
Fusion gene ID: 27186
HgeneTgene
Gene symbol

PIK3C3

DAB2

Gene ID

5289

1601

Gene namephosphatidylinositol 3-kinase catalytic subunit type 3DAB2, clathrin adaptor protein
SynonymsVPS34|Vps34|hVps34DOC-2|DOC2
Cytomap

18q12.3

5p13.1

Type of geneprotein-codingprotein-coding
Descriptionphosphatidylinositol 3-kinase catalytic subunit type 3PI3-kinase type 3PI3K type 3PtdIns-3-kinase type 3phosphatidylinositol 3-kinase p100 subunitphosphoinositide-3-kinase, class 3disabled homolog 2Dab, mitogen-responsive phosphoprotein, homolog 2adaptor molecule disabled-2differentially expressed in ovarian carcinoma 2differentially-expressed protein 2disabled homolog 2, mitogen-responsive phosphoprotein
Modification date2018052320180519
UniProtAcc

Q8NEB9

P98082

Ensembl transtripts involved in fusion geneENST00000262039, ENST00000398870, 
ENST00000586545, ENST00000590220, 
ENST00000593098, ENST00000589056, 
ENST00000587402, ENST00000588156, 
ENST00000587328, 
ENST00000339788, 
ENST00000320816, ENST00000545653, 
ENST00000509337, ENST00000512525, 
Fusion gene scores* DoF score4 X 4 X 3=486 X 7 X 2=84
# samples 47
** MAII scorelog2(4/48*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(7/84*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: PIK3C3 [Title/Abstract] AND DAB2 [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
TgeneDAB2

GO:0010718

positive regulation of epithelial to mesenchymal transition

15734730

TgeneDAB2

GO:0010862

positive regulation of pathway-restricted SMAD protein phosphorylation

11387212

TgeneDAB2

GO:0030511

positive regulation of transforming growth factor beta receptor signaling pathway

11387212

TgeneDAB2

GO:0043066

negative regulation of apoptotic process

15734730

TgeneDAB2

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
ChiTaRS3.1DW414072PIK3C3chr18

39542478

+DAB2chr5

39376168

-
* 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
Frame-shitENST00000262039ENST00000339788PIK3C3chr18

39542478

+DAB2chr5

39376168

-
Frame-shitENST00000262039ENST00000320816PIK3C3chr18

39542478

+DAB2chr5

39376168

-
Frame-shitENST00000262039ENST00000545653PIK3C3chr18

39542478

+DAB2chr5

39376168

-
Frame-shitENST00000262039ENST00000509337PIK3C3chr18

39542478

+DAB2chr5

39376168

-
5CDS-intronENST00000262039ENST00000512525PIK3C3chr18

39542478

+DAB2chr5

39376168

-
Frame-shitENST00000398870ENST00000339788PIK3C3chr18

39542478

+DAB2chr5

39376168

-
Frame-shitENST00000398870ENST00000320816PIK3C3chr18

39542478

+DAB2chr5

39376168

-
Frame-shitENST00000398870ENST00000545653PIK3C3chr18

39542478

+DAB2chr5

39376168

-
Frame-shitENST00000398870ENST00000509337PIK3C3chr18

39542478

+DAB2chr5

39376168

-
5CDS-intronENST00000398870ENST00000512525PIK3C3chr18

39542478

+DAB2chr5

39376168

-
Frame-shitENST00000586545ENST00000339788PIK3C3chr18

39542478

+DAB2chr5

39376168

-
Frame-shitENST00000586545ENST00000320816PIK3C3chr18

39542478

+DAB2chr5

39376168

-
Frame-shitENST00000586545ENST00000545653PIK3C3chr18

39542478

+DAB2chr5

39376168

-
Frame-shitENST00000586545ENST00000509337PIK3C3chr18

39542478

+DAB2chr5

39376168

-
5CDS-intronENST00000586545ENST00000512525PIK3C3chr18

39542478

+DAB2chr5

39376168

-
intron-3CDSENST00000590220ENST00000339788PIK3C3chr18

39542478

+DAB2chr5

39376168

-
intron-3CDSENST00000590220ENST00000320816PIK3C3chr18

39542478

+DAB2chr5

39376168

-
intron-3CDSENST00000590220ENST00000545653PIK3C3chr18

39542478

+DAB2chr5

39376168

-
intron-3CDSENST00000590220ENST00000509337PIK3C3chr18

39542478

+DAB2chr5

39376168

-
intron-intronENST00000590220ENST00000512525PIK3C3chr18

39542478

+DAB2chr5

39376168

-
intron-3CDSENST00000593098ENST00000339788PIK3C3chr18

39542478

+DAB2chr5

39376168

-
intron-3CDSENST00000593098ENST00000320816PIK3C3chr18

39542478

+DAB2chr5

39376168

-
intron-3CDSENST00000593098ENST00000545653PIK3C3chr18

39542478

+DAB2chr5

39376168

-
intron-3CDSENST00000593098ENST00000509337PIK3C3chr18

39542478

+DAB2chr5

39376168

-
intron-intronENST00000593098ENST00000512525PIK3C3chr18

39542478

+DAB2chr5

39376168

-
intron-3CDSENST00000589056ENST00000339788PIK3C3chr18

39542478

+DAB2chr5

39376168

-
intron-3CDSENST00000589056ENST00000320816PIK3C3chr18

39542478

+DAB2chr5

39376168

-
intron-3CDSENST00000589056ENST00000545653PIK3C3chr18

39542478

+DAB2chr5

39376168

-
intron-3CDSENST00000589056ENST00000509337PIK3C3chr18

39542478

+DAB2chr5

39376168

-
intron-intronENST00000589056ENST00000512525PIK3C3chr18

39542478

+DAB2chr5

39376168

-
intron-3CDSENST00000587402ENST00000339788PIK3C3chr18

39542478

+DAB2chr5

39376168

-
intron-3CDSENST00000587402ENST00000320816PIK3C3chr18

39542478

+DAB2chr5

39376168

-
intron-3CDSENST00000587402ENST00000545653PIK3C3chr18

39542478

+DAB2chr5

39376168

-
intron-3CDSENST00000587402ENST00000509337PIK3C3chr18

39542478

+DAB2chr5

39376168

-
intron-intronENST00000587402ENST00000512525PIK3C3chr18

39542478

+DAB2chr5

39376168

-
intron-3CDSENST00000588156ENST00000339788PIK3C3chr18

39542478

+DAB2chr5

39376168

-
intron-3CDSENST00000588156ENST00000320816PIK3C3chr18

39542478

+DAB2chr5

39376168

-
intron-3CDSENST00000588156ENST00000545653PIK3C3chr18

39542478

+DAB2chr5

39376168

-
intron-3CDSENST00000588156ENST00000509337PIK3C3chr18

39542478

+DAB2chr5

39376168

-
intron-intronENST00000588156ENST00000512525PIK3C3chr18

39542478

+DAB2chr5

39376168

-
intron-3CDSENST00000587328ENST00000339788PIK3C3chr18

39542478

+DAB2chr5

39376168

-
intron-3CDSENST00000587328ENST00000320816PIK3C3chr18

39542478

+DAB2chr5

39376168

-
intron-3CDSENST00000587328ENST00000545653PIK3C3chr18

39542478

+DAB2chr5

39376168

-
intron-3CDSENST00000587328ENST00000509337PIK3C3chr18

39542478

+DAB2chr5

39376168

-
intron-intronENST00000587328ENST00000512525PIK3C3chr18

39542478

+DAB2chr5

39376168

-

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FusionProtFeatures for PIK3C3_DAB2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
PIK3C3

Q8NEB9

DAB2

P98082

Catalytic subunit of the PI3K complex that mediatesformation of phosphatidylinositol 3-phosphate; different complexforms are believed to play a role in multiple membrane traffickingpathways: PI3KC3-C1 is involved in initiation of autophagosomesand PI3KC3-C2 in maturation of autophagosomes and endocytosis.Involved in regulation of degradative endocytic trafficking andrequired for the abcission step in cytokinesis, probably in thecontext of PI3KC3-C2 (PubMed:20643123, PubMed:20208530). Involvedin the transport of lysosomal enzyme precursors to lysosomes.Required for transport from early to late endosomes (Bysimilarity). {ECO:0000250|UniProtKB:O88763,ECO:0000269|PubMed:14617358, ECO:0000269|PubMed:20208530,ECO:0000269|PubMed:20643123, ECO:0000269|PubMed:7628435,ECO:0000305}. 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}.

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 PIK3C3_DAB2


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 PIK3C3_DAB2


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 PIK3C3_DAB2


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 PIK3C3_DAB2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePIK3C3C0036341Schizophrenia3PSYGENET
HgenePIK3C3C0005586Bipolar Disorder1PSYGENET