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Fusion gene ID: 20545 |
FusionGeneSummary for MADD_PIK3C2A |
Fusion gene summary |
Fusion gene information | Fusion gene name: MADD_PIK3C2A | Fusion gene ID: 20545 | Hgene | Tgene | Gene symbol | MADD | PIK3C2A | Gene ID | 8567 | 5286 |
Gene name | MAP kinase activating death domain | phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha | |
Synonyms | DENN|IG20|RAB3GEP | CPK|PI3-K-C2(ALPHA)|PI3-K-C2A|PI3K-C2-alpha|PI3K-C2alpha | |
Cytomap | 11p11.2 | 11p15.1 | |
Type of gene | protein-coding | protein-coding | |
Description | MAP kinase-activating death domain proteinRab3 GDP/GTP exchange factordifferentially expressed in normal and neoplastic cellsinsulinoma glucagonoma clone 20 | phosphatidylinositol 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 date | 20180523 | 20180523 | |
UniProtAcc | Q8WXG6 | O00443 | |
Ensembl transtripts involved in fusion gene | ENST00000342922, ENST00000402799, ENST00000311027, ENST00000406482, ENST00000407859, ENST00000349238, ENST00000395344, ENST00000395336, ENST00000402192, ENST00000405573, ENST00000489415, | ENST00000531428, ENST00000265970, ENST00000540361, | |
Fusion gene scores | * DoF score | 5 X 6 X 4=120 | 1 X 1 X 1=1 |
# samples | 6 | 1 | |
** MAII score | log2(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) |
Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | MADD | GO:0032483 | regulation of Rab protein signal transduction | 20937701 |
Hgene | MADD | GO:2001236 | regulation of extrinsic apoptotic signaling pathway | 11577081 |
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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
TCGA | RV | BLCA | TCGA-FD-A43N-01A | MADD | chr11 | 47333393 | + | PIK3C2A | chr11 | 17158172 | - |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
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. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
5CDS-intron | ENST00000342922 | ENST00000531428 | MADD | chr11 | 47333393 | + | PIK3C2A | chr11 | 17158172 | - |
5CDS-intron | ENST00000342922 | ENST00000265970 | MADD | chr11 | 47333393 | + | PIK3C2A | chr11 | 17158172 | - |
5CDS-intron | ENST00000342922 | ENST00000540361 | MADD | chr11 | 47333393 | + | PIK3C2A | chr11 | 17158172 | - |
5CDS-intron | ENST00000402799 | ENST00000531428 | MADD | chr11 | 47333393 | + | PIK3C2A | chr11 | 17158172 | - |
5CDS-intron | ENST00000402799 | ENST00000265970 | MADD | chr11 | 47333393 | + | PIK3C2A | chr11 | 17158172 | - |
5CDS-intron | ENST00000402799 | ENST00000540361 | MADD | chr11 | 47333393 | + | PIK3C2A | chr11 | 17158172 | - |
5CDS-intron | ENST00000311027 | ENST00000531428 | MADD | chr11 | 47333393 | + | PIK3C2A | chr11 | 17158172 | - |
5CDS-intron | ENST00000311027 | ENST00000265970 | MADD | chr11 | 47333393 | + | PIK3C2A | chr11 | 17158172 | - |
5CDS-intron | ENST00000311027 | ENST00000540361 | MADD | chr11 | 47333393 | + | PIK3C2A | chr11 | 17158172 | - |
5CDS-intron | ENST00000406482 | ENST00000531428 | MADD | chr11 | 47333393 | + | PIK3C2A | chr11 | 17158172 | - |
5CDS-intron | ENST00000406482 | ENST00000265970 | MADD | chr11 | 47333393 | + | PIK3C2A | chr11 | 17158172 | - |
5CDS-intron | ENST00000406482 | ENST00000540361 | MADD | chr11 | 47333393 | + | PIK3C2A | chr11 | 17158172 | - |
5CDS-intron | ENST00000407859 | ENST00000531428 | MADD | chr11 | 47333393 | + | PIK3C2A | chr11 | 17158172 | - |
5CDS-intron | ENST00000407859 | ENST00000265970 | MADD | chr11 | 47333393 | + | PIK3C2A | chr11 | 17158172 | - |
5CDS-intron | ENST00000407859 | ENST00000540361 | MADD | chr11 | 47333393 | + | PIK3C2A | chr11 | 17158172 | - |
5CDS-intron | ENST00000349238 | ENST00000531428 | MADD | chr11 | 47333393 | + | PIK3C2A | chr11 | 17158172 | - |
5CDS-intron | ENST00000349238 | ENST00000265970 | MADD | chr11 | 47333393 | + | PIK3C2A | chr11 | 17158172 | - |
5CDS-intron | ENST00000349238 | ENST00000540361 | MADD | chr11 | 47333393 | + | PIK3C2A | chr11 | 17158172 | - |
5CDS-intron | ENST00000395344 | ENST00000531428 | MADD | chr11 | 47333393 | + | PIK3C2A | chr11 | 17158172 | - |
5CDS-intron | ENST00000395344 | ENST00000265970 | MADD | chr11 | 47333393 | + | PIK3C2A | chr11 | 17158172 | - |
5CDS-intron | ENST00000395344 | ENST00000540361 | MADD | chr11 | 47333393 | + | PIK3C2A | chr11 | 17158172 | - |
5CDS-intron | ENST00000395336 | ENST00000531428 | MADD | chr11 | 47333393 | + | PIK3C2A | chr11 | 17158172 | - |
5CDS-intron | ENST00000395336 | ENST00000265970 | MADD | chr11 | 47333393 | + | PIK3C2A | chr11 | 17158172 | - |
5CDS-intron | ENST00000395336 | ENST00000540361 | MADD | chr11 | 47333393 | + | PIK3C2A | chr11 | 17158172 | - |
5CDS-intron | ENST00000402192 | ENST00000531428 | MADD | chr11 | 47333393 | + | PIK3C2A | chr11 | 17158172 | - |
5CDS-intron | ENST00000402192 | ENST00000265970 | MADD | chr11 | 47333393 | + | PIK3C2A | chr11 | 17158172 | - |
5CDS-intron | ENST00000402192 | ENST00000540361 | MADD | chr11 | 47333393 | + | PIK3C2A | chr11 | 17158172 | - |
5CDS-intron | ENST00000405573 | ENST00000531428 | MADD | chr11 | 47333393 | + | PIK3C2A | chr11 | 17158172 | - |
5CDS-intron | ENST00000405573 | ENST00000265970 | MADD | chr11 | 47333393 | + | PIK3C2A | chr11 | 17158172 | - |
5CDS-intron | ENST00000405573 | ENST00000540361 | MADD | chr11 | 47333393 | + | PIK3C2A | chr11 | 17158172 | - |
intron-intron | ENST00000489415 | ENST00000531428 | MADD | chr11 | 47333393 | + | PIK3C2A | chr11 | 17158172 | - |
intron-intron | ENST00000489415 | ENST00000265970 | MADD | chr11 | 47333393 | + | PIK3C2A | chr11 | 17158172 | - |
intron-intron | ENST00000489415 | ENST00000540361 | MADD | chr11 | 47333393 | + | PIK3C2A | chr11 | 17158172 | - |
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FusionProtFeatures for MADD_PIK3C2A |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
MADD | PIK3C2A |
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}. |
Retention 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 . * 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. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
- In-frame and not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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FusionGeneSequence for MADD_PIK3C2A |
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 |
Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
Hgene | Hgene's interactors | Tgene | Tgene's interactors |
MADD | PIDD1, TNFRSF1A, YWHAZ, VPS13D, POT1, GRK5, SHMT2, SOCS6, NXPH2, PRMT6, SDF4, HLA-E, SYT6, NTRK1, RB1CC1, XPO1, MTMR8, SYT12, BBS7, SYT3, DOCK5, SNX21, TSPYL6, ALOX5 | PIK3C2A | STAMBP, 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 |
- Retained PPIs in in-frame fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
- Lost PPIs in in-frame fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
- Retained PPIs, but lost function due to frame-shift fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for MADD_PIK3C2A |
Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for MADD_PIK3C2A |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |