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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: 20545

FusionGeneSummary for MADD_PIK3C2A

check button Fusion gene summary
Fusion gene informationFusion gene name: MADD_PIK3C2A
Fusion gene ID: 20545
HgeneTgene
Gene symbol

MADD

PIK3C2A

Gene ID

8567

5286

Gene nameMAP kinase activating death domainphosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha
SynonymsDENN|IG20|RAB3GEPCPK|PI3-K-C2(ALPHA)|PI3-K-C2A|PI3K-C2-alpha|PI3K-C2alpha
Cytomap

11p11.2

11p15.1

Type of geneprotein-codingprotein-coding
DescriptionMAP kinase-activating death domain proteinRab3 GDP/GTP exchange factordifferentially expressed in normal and neoplastic cellsinsulinoma glucagonoma clone 20phosphatidylinositol 4-phosphate 3-kinase C2 domain-containing subunit alphaC2-containing phosphatidylinositol kinasephosphatidylinositol-4-phosphate 3-kinase C2 domain-containing subunit alphaphosphoinositide 3-kinase-C2-alphaphosphoinositide-3-kinas
Modification date2018052320180523
UniProtAcc

Q8WXG6

O00443

Ensembl transtripts involved in fusion geneENST00000342922, ENST00000402799, 
ENST00000311027, ENST00000406482, 
ENST00000407859, ENST00000349238, 
ENST00000395344, ENST00000395336, 
ENST00000402192, ENST00000405573, 
ENST00000489415, 
ENST00000531428, 
ENST00000265970, ENST00000540361, 
Fusion gene scores* DoF score5 X 6 X 4=1201 X 1 X 1=1
# samples 61
** MAII scorelog2(6/120*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(1/1*10)=3.32192809488736
Context

PubMed: MADD [Title/Abstract] AND PIK3C2A [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
HgeneMADD

GO:0032483

regulation of Rab protein signal transduction

20937701

HgeneMADD

GO:2001236

regulation of extrinsic apoptotic signaling pathway

11577081


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
TCGARVBLCATCGA-FD-A43N-01AMADDchr11

47333393

+PIK3C2Achr11

17158172

-
* 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
5CDS-intronENST00000342922ENST00000531428MADDchr11

47333393

+PIK3C2Achr11

17158172

-
5CDS-intronENST00000342922ENST00000265970MADDchr11

47333393

+PIK3C2Achr11

17158172

-
5CDS-intronENST00000342922ENST00000540361MADDchr11

47333393

+PIK3C2Achr11

17158172

-
5CDS-intronENST00000402799ENST00000531428MADDchr11

47333393

+PIK3C2Achr11

17158172

-
5CDS-intronENST00000402799ENST00000265970MADDchr11

47333393

+PIK3C2Achr11

17158172

-
5CDS-intronENST00000402799ENST00000540361MADDchr11

47333393

+PIK3C2Achr11

17158172

-
5CDS-intronENST00000311027ENST00000531428MADDchr11

47333393

+PIK3C2Achr11

17158172

-
5CDS-intronENST00000311027ENST00000265970MADDchr11

47333393

+PIK3C2Achr11

17158172

-
5CDS-intronENST00000311027ENST00000540361MADDchr11

47333393

+PIK3C2Achr11

17158172

-
5CDS-intronENST00000406482ENST00000531428MADDchr11

47333393

+PIK3C2Achr11

17158172

-
5CDS-intronENST00000406482ENST00000265970MADDchr11

47333393

+PIK3C2Achr11

17158172

-
5CDS-intronENST00000406482ENST00000540361MADDchr11

47333393

+PIK3C2Achr11

17158172

-
5CDS-intronENST00000407859ENST00000531428MADDchr11

47333393

+PIK3C2Achr11

17158172

-
5CDS-intronENST00000407859ENST00000265970MADDchr11

47333393

+PIK3C2Achr11

17158172

-
5CDS-intronENST00000407859ENST00000540361MADDchr11

47333393

+PIK3C2Achr11

17158172

-
5CDS-intronENST00000349238ENST00000531428MADDchr11

47333393

+PIK3C2Achr11

17158172

-
5CDS-intronENST00000349238ENST00000265970MADDchr11

47333393

+PIK3C2Achr11

17158172

-
5CDS-intronENST00000349238ENST00000540361MADDchr11

47333393

+PIK3C2Achr11

17158172

-
5CDS-intronENST00000395344ENST00000531428MADDchr11

47333393

+PIK3C2Achr11

17158172

-
5CDS-intronENST00000395344ENST00000265970MADDchr11

47333393

+PIK3C2Achr11

17158172

-
5CDS-intronENST00000395344ENST00000540361MADDchr11

47333393

+PIK3C2Achr11

17158172

-
5CDS-intronENST00000395336ENST00000531428MADDchr11

47333393

+PIK3C2Achr11

17158172

-
5CDS-intronENST00000395336ENST00000265970MADDchr11

47333393

+PIK3C2Achr11

17158172

-
5CDS-intronENST00000395336ENST00000540361MADDchr11

47333393

+PIK3C2Achr11

17158172

-
5CDS-intronENST00000402192ENST00000531428MADDchr11

47333393

+PIK3C2Achr11

17158172

-
5CDS-intronENST00000402192ENST00000265970MADDchr11

47333393

+PIK3C2Achr11

17158172

-
5CDS-intronENST00000402192ENST00000540361MADDchr11

47333393

+PIK3C2Achr11

17158172

-
5CDS-intronENST00000405573ENST00000531428MADDchr11

47333393

+PIK3C2Achr11

17158172

-
5CDS-intronENST00000405573ENST00000265970MADDchr11

47333393

+PIK3C2Achr11

17158172

-
5CDS-intronENST00000405573ENST00000540361MADDchr11

47333393

+PIK3C2Achr11

17158172

-
intron-intronENST00000489415ENST00000531428MADDchr11

47333393

+PIK3C2Achr11

17158172

-
intron-intronENST00000489415ENST00000265970MADDchr11

47333393

+PIK3C2Achr11

17158172

-
intron-intronENST00000489415ENST00000540361MADDchr11

47333393

+PIK3C2Achr11

17158172

-

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FusionProtFeatures for MADD_PIK3C2A


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

Q8WXG6

PIK3C2A

O00443

Generates phosphatidylinositol 3-phosphate (PtdIns3P)and phosphatidylinositol 3,4-bisphosphate (PtdIns(3,4)P2) that actas second messengers. Has a role in several intracellulartrafficking events. Functions in insulin signaling and secretion.Required for translocation of the glucose transporter SLC2A4/GLUT4to the plasma membrane and glucose uptake in response to insulin-mediated RHOQ activation. Regulates insulin secretion through twodifferent mechanisms: involved in glucose-induced insulinsecretion downstream of insulin receptor in a pathway thatinvolves AKT1 activation and TBC1D4/AS160 phosphorylation, andparticipates in the late step of insulin granule exocytosisprobably in insulin granule fusion. Synthesizes PtdIns3P inresponse to insulin signaling. Functions in clathrin-coatedendocytic vesicle formation and distribution. Regulates dynamin-independent endocytosis, probably by recruiting EEA1 tointernalizing vesicles. In neurosecretory cells synthesizesPtdIns3P on large dense core vesicles. Participates in calciuminduced contraction of vascular smooth muscle by regulating myosinlight chain (MLC) phosphorylation through a mechanism involvingRho kinase-dependent phosphorylation of the MLCP-regulatorysubunit MYPT1. May play a role in the EGF signaling cascade. Maybe involved in mitosis and UV-induced damage response. Requiredfor maintenance of normal renal structure and function bysupporting normal podocyte function. {ECO:0000269|PubMed:10766823,ECO:0000269|PubMed:10805725, ECO:0000269|PubMed:11239472,ECO:0000269|PubMed:12719431, ECO:0000269|PubMed:16215232,ECO:0000269|PubMed:21081650, ECO:0000269|PubMed:9337861}.

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 MADD_PIK3C2A


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 MADD_PIK3C2A


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
MADDPIDD1, TNFRSF1A, YWHAZ, VPS13D, POT1, GRK5, SHMT2, SOCS6, NXPH2, PRMT6, SDF4, HLA-E, SYT6, NTRK1, RB1CC1, XPO1, MTMR8, SYT12, BBS7, SYT3, DOCK5, SNX21, TSPYL6, ALOX5PIK3C2ASTAMBP, MLH1, PMS2, PMS1, MAP1LC3A, ATG7, ANKFY1, FKBP4, TARS, PGK1, PA2G4, TKT, EIF3A, ARRB1, ARRB2, TRIM27, YWHAB, LGR4, MAGED2, SLC25A41, QPRT, THBS3, CCNJL, FBXW11, NTRK1, CLTA, RPLP0, NINL, CAPZA2, CLTB, CLTC, DBN1, FLNA, GAK, MYH9, PPP1CB, PICALM, IQGAP1, SEC16A, SYNPO, LIMA1, GTSE1, ANLN, MYO19, ARX, MYO18A, MYO6, STAMBPL1, FAM136A, CLINT1, CDC16, C6orf141, CRYL1, NCAPH2, HAVCR2, TRIM25


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 MADD_PIK3C2A


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 MADD_PIK3C2A


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