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 | Fusion Gene Summary |
| Fusion Gene ORF analysis |
| Fusion Genomic Features |
| Fusion Protein Features |
| Fusion Gene Sequence |
| Fusion Gene PPI analysis |
| Related Drugs |
| Related Diseases |
Fusion gene:AKT2-ELK3 (FusionGDB2 ID:HG208TG2004) |
Fusion Gene Summary for AKT2-ELK3 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: AKT2-ELK3 | Fusion gene ID: hg208tg2004 | Hgene | Tgene | Gene symbol | AKT2 | ELK3 | Gene ID | 208 | 2004 |
| Gene name | AKT serine/threonine kinase 2 | ETS transcription factor ELK3 | |
| Synonyms | HIHGHH|PKBB|PKBBETA|PRKBB|RAC-BETA | ERP|NET|SAP-2|SAP2 | |
| Cytomap | ('AKT2')('ELK3') 19q13.2 | 12q23.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | RAC-beta serine/threonine-protein kinasePKB betaRAC-PK-betamurine thymoma viral (v-akt) homolog-2protein kinase Akt-2protein kinase B betaputative v-akt murine thymoma viral oncoprotein 2rac protein kinase betav-akt murine thymoma viral oncogene h | ETS domain-containing protein Elk-3ELK3, ETS transcription factorELK3, ETS-domain protein (SRF accessory protein 2)ETS-related protein ERPETS-related protein NETSRF accessory protein 2serum response factor accessory protein 2 | |
| Modification date | 20200313 | 20200313 | |
| UniProtAcc | P31751 | . | |
| Ensembl transtripts involved in fusion gene | ENST00000392038, ENST00000311278, ENST00000424901, ENST00000579047, ENST00000581582, | ||
| Fusion gene scores | * DoF score | 14 X 12 X 11=1848 | 24 X 8 X 11=2112 |
| # samples | 16 | 22 | |
| ** MAII score | log2(16/1848*10)=-3.52982094652869 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(22/2112*10)=-3.26303440583379 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: AKT2 [Title/Abstract] AND ELK3 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint | AKT2(40736224)-ELK3(96588323), # samples:1 | ||
| Anticipated loss of major functional domain due to fusion event. | |||
| * 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 | AKT2 | GO:0030335 | positive regulation of cell migration | 25428377 |
| Tgene | ELK3 | GO:0045892 | negative regulation of transcription, DNA-templated | 12933792 |
| Tgene | ELK3 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 12788937 |
| Fusion gene information * 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. |
| Source | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| ChimerDB4 | SKCM | TCGA-EE-A2GL-06A | AKT2 | chr19 | 40736224 | - | ELK3 | chr12 | 96588323 | + |
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Fusion Gene ORF analysis for AKT2-ELK3 |
| 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-5UTR | ENST00000392038 | ENST00000228741 | AKT2 | chr19 | 40736224 | - | ELK3 | chr12 | 96588323 | + |
| 5CDS-5UTR | ENST00000392038 | ENST00000552142 | AKT2 | chr19 | 40736224 | - | ELK3 | chr12 | 96588323 | + |
| 5CDS-intron | ENST00000392038 | ENST00000549529 | AKT2 | chr19 | 40736224 | - | ELK3 | chr12 | 96588323 | + |
| intron-5UTR | ENST00000311278 | ENST00000228741 | AKT2 | chr19 | 40736224 | - | ELK3 | chr12 | 96588323 | + |
| intron-5UTR | ENST00000311278 | ENST00000552142 | AKT2 | chr19 | 40736224 | - | ELK3 | chr12 | 96588323 | + |
| intron-5UTR | ENST00000424901 | ENST00000228741 | AKT2 | chr19 | 40736224 | - | ELK3 | chr12 | 96588323 | + |
| intron-5UTR | ENST00000424901 | ENST00000552142 | AKT2 | chr19 | 40736224 | - | ELK3 | chr12 | 96588323 | + |
| intron-5UTR | ENST00000579047 | ENST00000228741 | AKT2 | chr19 | 40736224 | - | ELK3 | chr12 | 96588323 | + |
| intron-5UTR | ENST00000579047 | ENST00000552142 | AKT2 | chr19 | 40736224 | - | ELK3 | chr12 | 96588323 | + |
| intron-5UTR | ENST00000581582 | ENST00000228741 | AKT2 | chr19 | 40736224 | - | ELK3 | chr12 | 96588323 | + |
| intron-5UTR | ENST00000581582 | ENST00000552142 | AKT2 | chr19 | 40736224 | - | ELK3 | chr12 | 96588323 | + |
| intron-intron | ENST00000311278 | ENST00000549529 | AKT2 | chr19 | 40736224 | - | ELK3 | chr12 | 96588323 | + |
| intron-intron | ENST00000424901 | ENST00000549529 | AKT2 | chr19 | 40736224 | - | ELK3 | chr12 | 96588323 | + |
| intron-intron | ENST00000579047 | ENST00000549529 | AKT2 | chr19 | 40736224 | - | ELK3 | chr12 | 96588323 | + |
| intron-intron | ENST00000581582 | ENST00000549529 | AKT2 | chr19 | 40736224 | - | ELK3 | chr12 | 96588323 | + |
| ORFfinder result based on the fusion transcript sequence of in-frame fusion genes. |
| Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | Seq length (transcript) | BP loci (transcript) | Predicted start (transcript) | Predicted stop (transcript) | Seq length (amino acids) |
| DeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated. |
| Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
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Fusion Genomic Features for AKT2-ELK3 |
| FusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints. |
| Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
| AKT2 | chr19 | 40736223 | - | ELK3 | chr12 | 96588322 | + | 0.7452094 | 0.2547906 |
| AKT2 | chr19 | 40736223 | - | ELK3 | chr12 | 96588322 | + | 0.7452094 | 0.2547906 |
| Distribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page. |
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Fusion Protein Features for AKT2-ELK3 |
| Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:40736224/:96588323) - FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels. - How to search 1. Put your fusion gene symbol. 2. Press the tab key until there will be shown the breakpoint information filled. 4. Go down and press 'Search' tab twice. 4. Go down to have the hyperlink of the search result. 5. Click the hyperlink. 6. See the FGviewer result for your fusion gene. |
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| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| AKT2 | . |
| FUNCTION: AKT2 is one of 3 closely related serine/threonine-protein kinases (AKT1, AKT2 and AKT3) called the AKT kinase, and which regulate many processes including metabolism, proliferation, cell survival, growth and angiogenesis. This is mediated through serine and/or threonine phosphorylation of a range of downstream substrates. Over 100 substrate candidates have been reported so far, but for most of them, no isoform specificity has been reported. AKT is responsible of the regulation of glucose uptake by mediating insulin-induced translocation of the SLC2A4/GLUT4 glucose transporter to the cell surface. Phosphorylation of PTPN1 at 'Ser-50' negatively modulates its phosphatase activity preventing dephosphorylation of the insulin receptor and the attenuation of insulin signaling. Phosphorylation of TBC1D4 triggers the binding of this effector to inhibitory 14-3-3 proteins, which is required for insulin-stimulated glucose transport. AKT regulates also the storage of glucose in the form of glycogen by phosphorylating GSK3A at 'Ser-21' and GSK3B at 'Ser-9', resulting in inhibition of its kinase activity. Phosphorylation of GSK3 isoforms by AKT is also thought to be one mechanism by which cell proliferation is driven. AKT regulates also cell survival via the phosphorylation of MAP3K5 (apoptosis signal-related kinase). Phosphorylation of 'Ser-83' decreases MAP3K5 kinase activity stimulated by oxidative stress and thereby prevents apoptosis. AKT mediates insulin-stimulated protein synthesis by phosphorylating TSC2 at 'Ser-939' and 'Thr-1462', thereby activating mTORC1 signaling and leading to both phosphorylation of 4E-BP1 and in activation of RPS6KB1. AKT is involved in the phosphorylation of members of the FOXO factors (Forkhead family of transcription factors), leading to binding of 14-3-3 proteins and cytoplasmic localization. In particular, FOXO1 is phosphorylated at 'Thr-24', 'Ser-256' and 'Ser-319'. FOXO3 and FOXO4 are phosphorylated on equivalent sites. AKT has an important role in the regulation of NF-kappa-B-dependent gene transcription and positively regulates the activity of CREB1 (cyclic AMP (cAMP)-response element binding protein). The phosphorylation of CREB1 induces the binding of accessory proteins that are necessary for the transcription of pro-survival genes such as BCL2 and MCL1. AKT phosphorylates 'Ser-454' on ATP citrate lyase (ACLY), thereby potentially regulating ACLY activity and fatty acid synthesis. Activates the 3B isoform of cyclic nucleotide phosphodiesterase (PDE3B) via phosphorylation of 'Ser-273', resulting in reduced cyclic AMP levels and inhibition of lipolysis. Phosphorylates PIKFYVE on 'Ser-318', which results in increased PI(3)P-5 activity. The Rho GTPase-activating protein DLC1 is another substrate and its phosphorylation is implicated in the regulation cell proliferation and cell growth. AKT plays a role as key modulator of the AKT-mTOR signaling pathway controlling the tempo of the process of newborn neurons integration during adult neurogenesis, including correct neuron positioning, dendritic development and synapse formation. Signals downstream of phosphatidylinositol 3-kinase (PI(3)K) to mediate the effects of various growth factors such as platelet-derived growth factor (PDGF), epidermal growth factor (EGF), insulin and insulin-like growth factor I (IGF-I). AKT mediates the antiapoptotic effects of IGF-I. Essential for the SPATA13-mediated regulation of cell migration and adhesion assembly and disassembly. May be involved in the regulation of the placental development.; FUNCTION: One of the few specific substrates of AKT2 identified recently is PITX2. Phosphorylation of PITX2 impairs its association with the CCND1 mRNA-stabilizing complex thus shortening the half-life of CCND1. AKT2 seems also to be the principal isoform responsible of the regulation of glucose uptake. Phosphorylates C2CD5 on 'Ser-197' during insulin-stimulated adipocytes. AKT2 is also specifically involved in skeletal muscle differentiation, one of its substrates in this process being ANKRD2. Down-regulation by RNA interference reduces the expression of the phosphorylated form of BAD, resulting in the induction of caspase-dependent apoptosis. Phosphorylates CLK2 on 'Thr-343'. | FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}. |
| 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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Fusion Gene Sequence for AKT2-ELK3 |
| For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones. |
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Fusion Gene PPI Analysis for AKT2-ELK3 |
| 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 |
| - 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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Related Drugs for AKT2-ELK3 |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.8 2021-05-08) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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Related Diseases for AKT2-ELK3 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | AKT2 | C3278384 | HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY | 5 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |
| Hgene | AKT2 | C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | 4 | CTD_human;GENOMICS_ENGLAND;UNIPROT |
| Hgene | AKT2 | C0005586 | Bipolar Disorder | 1 | PSYGENET |
| Hgene | AKT2 | C0006142 | Malignant neoplasm of breast | 1 | CGI;CTD_human |
| Hgene | AKT2 | C0271694 | Familial partial lipodystrophy | 1 | CTD_human |
| Hgene | AKT2 | C0678222 | Breast Carcinoma | 1 | CGI;CTD_human |
| Hgene | AKT2 | C1257931 | Mammary Neoplasms, Human | 1 | CTD_human |
| Hgene | AKT2 | C1458155 | Mammary Neoplasms | 1 | CTD_human |
| Hgene | AKT2 | C1720859 | Familial Partial Lipodystrophy, Type 1 | 1 | CTD_human |
| Hgene | AKT2 | C1720860 | Familial Partial Lipodystrophy, Type 2 | 1 | CTD_human |
| Hgene | AKT2 | C1720861 | Familial Partial Lipodystrophy, Type 3 | 1 | CTD_human |
| Hgene | AKT2 | C2931822 | Nasopharyngeal carcinoma | 1 | CTD_human |
| Hgene | AKT2 | C4316789 | Partial lipodystrophy | 1 | GENOMICS_ENGLAND |
| Hgene | AKT2 | C4704874 | Mammary Carcinoma, Human | 1 | CTD_human |
| Tgene | C0006142 | Malignant neoplasm of breast | 1 | CTD_human | |
| Tgene | C0678222 | Breast Carcinoma | 1 | CTD_human | |
| Tgene | C1135196 | Heart Failure, Diastolic | 1 | CTD_human | |
| Tgene | C1257931 | Mammary Neoplasms, Human | 1 | CTD_human | |
| Tgene | C1458155 | Mammary Neoplasms | 1 | CTD_human | |
| Tgene | C4704874 | Mammary Carcinoma, Human | 1 | CTD_human |
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