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Fusion gene ID: 9685 |
FusionGeneSummary for DEDD2_GSK3A |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: DEDD2_GSK3A | Fusion gene ID: 9685 | Hgene | Tgene | Gene symbol | DEDD2 | GSK3A | Gene ID | 162989 | 2931 |
| Gene name | death effector domain containing 2 | glycogen synthase kinase 3 alpha | |
| Synonyms | FLAME-3|FLAME3 | - | |
| Cytomap | 19q13.2 | 19q13.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | DNA-binding death effector domain-containing protein 2DED-containing protein FLAME-3FADD-like anti-apoptotic molecule 3 | glycogen synthase kinase-3 alphaGSK-3 alphaserine/threonine-protein kinase GSK3A | |
| Modification date | 20180523 | 20180522 | |
| UniProtAcc | Q8WXF8 | P49840 | |
| Ensembl transtripts involved in fusion gene | ENST00000336034, ENST00000595337, ENST00000593804, ENST00000596251, ENST00000598727, | ENST00000222330, ENST00000398249, | |
| Fusion gene scores | * DoF score | 4 X 4 X 3=48 | 2 X 2 X 2=8 |
| # samples | 4 | 2 | |
| ** MAII score | log2(4/48*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(2/8*10)=1.32192809488736 | |
| Context | PubMed: DEDD2 [Title/Abstract] AND GSK3A [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 | DEDD2 | GO:0030262 | apoptotic nuclear changes | 11741985 |
| Tgene | GSK3A | GO:0006468 | protein phosphorylation | 11035810 |
| Tgene | GSK3A | GO:0018107 | peptidyl-threonine phosphorylation | 25897075 |
| 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 | LD | LUSC | TCGA-33-4547-01A | DEDD2 | chr19 | 42724226 | - | GSK3A | chr19 | 42737535 | - |
| * 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 |
| intron-3CDS | ENST00000336034 | ENST00000222330 | DEDD2 | chr19 | 42724226 | - | GSK3A | chr19 | 42737535 | - |
| intron-3CDS | ENST00000336034 | ENST00000398249 | DEDD2 | chr19 | 42724226 | - | GSK3A | chr19 | 42737535 | - |
| 5UTR-3CDS | ENST00000595337 | ENST00000222330 | DEDD2 | chr19 | 42724226 | - | GSK3A | chr19 | 42737535 | - |
| 5UTR-3CDS | ENST00000595337 | ENST00000398249 | DEDD2 | chr19 | 42724226 | - | GSK3A | chr19 | 42737535 | - |
| intron-3CDS | ENST00000593804 | ENST00000222330 | DEDD2 | chr19 | 42724226 | - | GSK3A | chr19 | 42737535 | - |
| intron-3CDS | ENST00000593804 | ENST00000398249 | DEDD2 | chr19 | 42724226 | - | GSK3A | chr19 | 42737535 | - |
| intron-3CDS | ENST00000596251 | ENST00000222330 | DEDD2 | chr19 | 42724226 | - | GSK3A | chr19 | 42737535 | - |
| intron-3CDS | ENST00000596251 | ENST00000398249 | DEDD2 | chr19 | 42724226 | - | GSK3A | chr19 | 42737535 | - |
| intron-3CDS | ENST00000598727 | ENST00000222330 | DEDD2 | chr19 | 42724226 | - | GSK3A | chr19 | 42737535 | - |
| intron-3CDS | ENST00000598727 | ENST00000398249 | DEDD2 | chr19 | 42724226 | - | GSK3A | chr19 | 42737535 | - |
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FusionProtFeatures for DEDD2_GSK3A |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| DEDD2 | GSK3A |
| May play a critical role in death receptor-inducedapoptosis and may target CASP8 and CASP10 to the nucleus. Mayregulate degradation of intermediate filaments during apoptosis.May play a role in the general transcription machinery in thenucleus and might be an important regulator of the activity ofGTF3C3. | Constitutively active protein kinase that acts as anegative regulator in the hormonal control of glucose homeostasis,Wnt signaling and regulation of transcription factors andmicrotubules, by phosphorylating and inactivating glycogensynthase (GYS1 or GYS2), CTNNB1/beta-catenin, APC and AXIN1.Requires primed phosphorylation of the majority of its substrates.Contributes to insulin regulation of glycogen synthesis byphosphorylating and inhibiting GYS1 activity and hence glycogensynthesis. Regulates glycogen metabolism in liver, but not inmuscle. May also mediate the development of insulin resistance byregulating activation of transcription factors. In Wnt signaling,regulates the level and transcriptional activity of nuclearCTNNB1/beta-catenin. Facilitates amyloid precursor protein (APP)processing and the generation of APP-derived amyloid plaques foundin Alzheimer disease. May be involved in the regulation ofreplication in pancreatic beta-cells. Is necessary for theestablishment of neuronal polarity and axon outgrowth. Throughphosphorylation of the anti-apoptotic protein MCL1, may controlcell apoptosis in response to growth factors deprivation.{ECO:0000269|PubMed:12761548, ECO:0000269|PubMed:17229088}. |
| 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 DEDD2_GSK3A |
| 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 DEDD2_GSK3A |
| 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 |
| DEDD2 | CFLAR, DEDD, CASP8, CASP10, DEDD2, GTF3C3, HNRNPAB, NR2E3, RBFOX2, RHOXF2, CDK6, ATG16L1, CDCA7L | GSK3A | AR, MYC, AKT1, AXIN1, YWHAG, HDAC6, EBNA1BP2, GLI3, CREB1, MAPT, PRKACA, PRKDC, HSP90AA1, PRKCA, PRKCB, PRKCG, PRKCH, PRKCD, DEAF1, SPICE1, MAP3K11, NBR1, VTA1, GSKIP, SPG21, ARHGEF11, KRBA1, FAM193B, PSMD1, AXIN2, PPP1R2, FRAT1, AKAP9, ZDHHC17, TRAK2, FCGR2B, PPP3CC, RCAN2, RICTOR, CTNNB1, RAE1, AIM1, CTNNA1, MDN1, POLR3B, FOXM1, PPP1CA, PPP1CB, PPP1CC, PPP3CB, RCAN1, SAMHD1, FBXO42, SRBD1, ARSG, BCL2L1, 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 DEDD2_GSK3A |
| 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 DEDD2_GSK3A |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | GSK3A | C0005586 | Bipolar Disorder | 1 | CTD_human |
| Tgene | GSK3A | C0011581 | Depressive disorder | 1 | CTD_human |
| Tgene | GSK3A | C0036341 | Schizophrenia | 1 | CTD_human |
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