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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:AKT1-DEDD2 (FusionGDB2 ID:3465)

Fusion Gene Summary for AKT1-DEDD2

check button Fusion gene summary
Fusion gene informationFusion gene name: AKT1-DEDD2
Fusion gene ID: 3465
HgeneTgene
Gene symbol

AKT1

DEDD2

Gene ID

207

162989

Gene nameAKT serine/threonine kinase 1death effector domain containing 2
SynonymsAKT|CWS6|PKB|PKB-ALPHA|PRKBA|RAC|RAC-ALPHAFLAME-3|FLAME3
Cytomap

14q32.33

19q13.2

Type of geneprotein-codingprotein-coding
DescriptionRAC-alpha serine/threonine-protein kinaseAKT1mPKB alphaRAC-PK-alphaprotein kinase B alphaproto-oncogene c-Aktrac protein kinase alphaserine-threonine protein kinasev-akt murine thymoma viral oncogene homolog 1v-akt murine thymoma viral oncogene-lDNA-binding death effector domain-containing protein 2DED-containing protein FLAME-3FADD-like anti-apoptotic molecule 3
Modification date2020032920200313
UniProtAcc

P31749

Q8WXF8

Ensembl transtripts involved in fusion geneENST00000349310, ENST00000402615, 
ENST00000407796, ENST00000554581, 
ENST00000554848, ENST00000555528, 
ENST00000544168, ENST00000554192, 
ENST00000554585, ENST00000555458, 
ENST00000593804, ENST00000596251, 
ENST00000598727, ENST00000336034, 
ENST00000595337, 
Fusion gene scores* DoF score10 X 6 X 4=2403 X 2 X 3=18
# samples 104
** MAII scorelog2(10/240*10)=-1.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(4/18*10)=1.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: AKT1 [Title/Abstract] AND DEDD2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointAKT1(105258935)-DEDD2(42719404), # samples:1
Anticipated loss of major functional domain due to fusion event.AKT1-DEDD2 seems lost the major protein functional domain in Hgene partner, which is a cell metabolism gene due to the frame-shifted ORF.
AKT1-DEDD2 seems lost the major protein functional domain in Hgene partner, which is a CGC due to the frame-shifted ORF.
AKT1-DEDD2 seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
AKT1-DEDD2 seems lost the major protein functional domain in Hgene partner, which is a kinase due to the frame-shifted ORF.
* 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
HgeneAKT1

GO:0001934

positive regulation of protein phosphorylation

19057511

HgeneAKT1

GO:0006468

protein phosphorylation

11994271|14749367|23431171

HgeneAKT1

GO:0007173

epidermal growth factor receptor signaling pathway

20878056

HgeneAKT1

GO:0016310

phosphorylation

20333297

HgeneAKT1

GO:0018105

peptidyl-serine phosphorylation

16139227

HgeneAKT1

GO:0018107

peptidyl-threonine phosphorylation

20605787

HgeneAKT1

GO:0030307

positive regulation of cell growth

19203586

HgeneAKT1

GO:0032079

positive regulation of endodeoxyribonuclease activity

20605787

HgeneAKT1

GO:0033138

positive regulation of peptidyl-serine phosphorylation

19667065

HgeneAKT1

GO:0035556

intracellular signal transduction

14749367

HgeneAKT1

GO:0035655

interleukin-18-mediated signaling pathway

21321938

HgeneAKT1

GO:0043066

negative regulation of apoptotic process

19203586

HgeneAKT1

GO:0043536

positive regulation of blood vessel endothelial cell migration

20011604

HgeneAKT1

GO:0048661

positive regulation of smooth muscle cell proliferation

21321938

HgeneAKT1

GO:0051091

positive regulation of DNA-binding transcription factor activity

19057511

HgeneAKT1

GO:0070141

response to UV-A

18483258

TgeneDEDD2

GO:0030262

apoptotic nuclear changes

11741985


check buttonFusion gene breakpoints across AKT1 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across DEDD2 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4STADTCGA-CG-5724-01AAKT1chr14

105258935

-DEDD2chr19

42719404

-


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Fusion Gene ORF analysis for AKT1-DEDD2

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-5UTRENST00000349310ENST00000593804AKT1chr14

105258935

-DEDD2chr19

42719404

-
5CDS-5UTRENST00000349310ENST00000596251AKT1chr14

105258935

-DEDD2chr19

42719404

-
5CDS-5UTRENST00000349310ENST00000598727AKT1chr14

105258935

-DEDD2chr19

42719404

-
5CDS-5UTRENST00000402615ENST00000593804AKT1chr14

105258935

-DEDD2chr19

42719404

-
5CDS-5UTRENST00000402615ENST00000596251AKT1chr14

105258935

-DEDD2chr19

42719404

-
5CDS-5UTRENST00000402615ENST00000598727AKT1chr14

105258935

-DEDD2chr19

42719404

-
5CDS-5UTRENST00000407796ENST00000593804AKT1chr14

105258935

-DEDD2chr19

42719404

-
5CDS-5UTRENST00000407796ENST00000596251AKT1chr14

105258935

-DEDD2chr19

42719404

-
5CDS-5UTRENST00000407796ENST00000598727AKT1chr14

105258935

-DEDD2chr19

42719404

-
5CDS-5UTRENST00000554581ENST00000593804AKT1chr14

105258935

-DEDD2chr19

42719404

-
5CDS-5UTRENST00000554581ENST00000596251AKT1chr14

105258935

-DEDD2chr19

42719404

-
5CDS-5UTRENST00000554581ENST00000598727AKT1chr14

105258935

-DEDD2chr19

42719404

-
5CDS-5UTRENST00000554848ENST00000593804AKT1chr14

105258935

-DEDD2chr19

42719404

-
5CDS-5UTRENST00000554848ENST00000596251AKT1chr14

105258935

-DEDD2chr19

42719404

-
5CDS-5UTRENST00000554848ENST00000598727AKT1chr14

105258935

-DEDD2chr19

42719404

-
5CDS-5UTRENST00000555528ENST00000593804AKT1chr14

105258935

-DEDD2chr19

42719404

-
5CDS-5UTRENST00000555528ENST00000596251AKT1chr14

105258935

-DEDD2chr19

42719404

-
5CDS-5UTRENST00000555528ENST00000598727AKT1chr14

105258935

-DEDD2chr19

42719404

-
Frame-shiftENST00000349310ENST00000336034AKT1chr14

105258935

-DEDD2chr19

42719404

-
Frame-shiftENST00000349310ENST00000595337AKT1chr14

105258935

-DEDD2chr19

42719404

-
Frame-shiftENST00000402615ENST00000336034AKT1chr14

105258935

-DEDD2chr19

42719404

-
Frame-shiftENST00000402615ENST00000595337AKT1chr14

105258935

-DEDD2chr19

42719404

-
Frame-shiftENST00000407796ENST00000336034AKT1chr14

105258935

-DEDD2chr19

42719404

-
Frame-shiftENST00000407796ENST00000595337AKT1chr14

105258935

-DEDD2chr19

42719404

-
Frame-shiftENST00000554581ENST00000336034AKT1chr14

105258935

-DEDD2chr19

42719404

-
Frame-shiftENST00000554581ENST00000595337AKT1chr14

105258935

-DEDD2chr19

42719404

-
Frame-shiftENST00000554848ENST00000336034AKT1chr14

105258935

-DEDD2chr19

42719404

-
Frame-shiftENST00000554848ENST00000595337AKT1chr14

105258935

-DEDD2chr19

42719404

-
Frame-shiftENST00000555528ENST00000336034AKT1chr14

105258935

-DEDD2chr19

42719404

-
Frame-shiftENST00000555528ENST00000595337AKT1chr14

105258935

-DEDD2chr19

42719404

-
intron-3CDSENST00000544168ENST00000336034AKT1chr14

105258935

-DEDD2chr19

42719404

-
intron-3CDSENST00000544168ENST00000595337AKT1chr14

105258935

-DEDD2chr19

42719404

-
intron-3CDSENST00000554192ENST00000336034AKT1chr14

105258935

-DEDD2chr19

42719404

-
intron-3CDSENST00000554192ENST00000595337AKT1chr14

105258935

-DEDD2chr19

42719404

-
intron-3CDSENST00000554585ENST00000336034AKT1chr14

105258935

-DEDD2chr19

42719404

-
intron-3CDSENST00000554585ENST00000595337AKT1chr14

105258935

-DEDD2chr19

42719404

-
intron-3CDSENST00000555458ENST00000336034AKT1chr14

105258935

-DEDD2chr19

42719404

-
intron-3CDSENST00000555458ENST00000595337AKT1chr14

105258935

-DEDD2chr19

42719404

-
intron-5UTRENST00000544168ENST00000593804AKT1chr14

105258935

-DEDD2chr19

42719404

-
intron-5UTRENST00000544168ENST00000596251AKT1chr14

105258935

-DEDD2chr19

42719404

-
intron-5UTRENST00000544168ENST00000598727AKT1chr14

105258935

-DEDD2chr19

42719404

-
intron-5UTRENST00000554192ENST00000593804AKT1chr14

105258935

-DEDD2chr19

42719404

-
intron-5UTRENST00000554192ENST00000596251AKT1chr14

105258935

-DEDD2chr19

42719404

-
intron-5UTRENST00000554192ENST00000598727AKT1chr14

105258935

-DEDD2chr19

42719404

-
intron-5UTRENST00000554585ENST00000593804AKT1chr14

105258935

-DEDD2chr19

42719404

-
intron-5UTRENST00000554585ENST00000596251AKT1chr14

105258935

-DEDD2chr19

42719404

-
intron-5UTRENST00000554585ENST00000598727AKT1chr14

105258935

-DEDD2chr19

42719404

-
intron-5UTRENST00000555458ENST00000593804AKT1chr14

105258935

-DEDD2chr19

42719404

-
intron-5UTRENST00000555458ENST00000596251AKT1chr14

105258935

-DEDD2chr19

42719404

-
intron-5UTRENST00000555458ENST00000598727AKT1chr14

105258935

-DEDD2chr19

42719404

-

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)

check buttonDeepORF 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.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score

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Fusion Genomic Features for AKT1-DEDD2


check buttonFusionAI 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.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

check buttonDistribution 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 AKT1-DEDD2


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:105258935/:42719404)
- 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.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
AKT1

P31749

DEDD2

Q8WXF8

FUNCTION: AKT1 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 (PubMed:15526160, PubMed:11882383, PubMed:21620960, PubMed:21432781). This is mediated through serine and/or threonine phosphorylation of a range of downstream substrates (PubMed:15526160, PubMed:11882383, PubMed:21620960, PubMed:21432781). Over 100 substrate candidates have been reported so far, but for most of them, no isoform specificity has been reported (PubMed:15526160, PubMed:11882383, PubMed:21620960, PubMed:21432781). AKT is responsible of the regulation of glucose uptake by mediating insulin-induced translocation of the SLC2A4/GLUT4 glucose transporter to the cell surface (By similarity). Phosphorylation of PTPN1 at 'Ser-50' negatively modulates its phosphatase activity preventing dephosphorylation of the insulin receptor and the attenuation of insulin signaling (By similarity). Phosphorylation of TBC1D4 triggers the binding of this effector to inhibitory 14-3-3 proteins, which is required for insulin-stimulated glucose transport (PubMed:11994271). 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 (By similarity). Phosphorylation of GSK3 isoforms by AKT is also thought to be one mechanism by which cell proliferation is driven (By similarity). AKT regulates also cell survival via the phosphorylation of MAP3K5 (apoptosis signal-related kinase) (PubMed:11154276). Phosphorylation of 'Ser-83' decreases MAP3K5 kinase activity stimulated by oxidative stress and thereby prevents apoptosis (PubMed:11154276). 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 (PubMed:12150915). 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 (PubMed:10358075). In particular, FOXO1 is phosphorylated at 'Thr-24', 'Ser-256' and 'Ser-319' (PubMed:10358075). FOXO3 and FOXO4 are phosphorylated on equivalent sites (PubMed:10358075). 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) (PubMed:9829964). 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 (PubMed:9829964). AKT phosphorylates 'Ser-454' on ATP citrate lyase (ACLY), thereby potentially regulating ACLY activity and fatty acid synthesis (By similarity). Activates the 3B isoform of cyclic nucleotide phosphodiesterase (PDE3B) via phosphorylation of 'Ser-273', resulting in reduced cyclic AMP levels and inhibition of lipolysis (By similarity). Phosphorylates PIKFYVE on 'Ser-318', which results in increased PI(3)P-5 activity (By similarity). 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 (By similarity). 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) (PubMed:12176338, PubMed:12964941). AKT mediates the antiapoptotic effects of IGF-I (By similarity). Essential for the SPATA13-mediated regulation of cell migration and adhesion assembly and disassembly (PubMed:19934221). May be involved in the regulation of the placental development (By similarity). Phosphorylates STK4/MST1 at 'Thr-120' and 'Thr-387' leading to inhibition of its: kinase activity, nuclear translocation, autophosphorylation and ability to phosphorylate FOXO3 (PubMed:17726016). Phosphorylates STK3/MST2 at 'Thr-117' and 'Thr-384' leading to inhibition of its: cleavage, kinase activity, autophosphorylation at Thr-180, binding to RASSF1 and nuclear translocation (PubMed:20086174, PubMed:20231902). Phosphorylates SRPK2 and enhances its kinase activity towards SRSF2 and ACIN1 and promotes its nuclear translocation (PubMed:19592491). Phosphorylates RAF1 at 'Ser-259' and negatively regulates its activity (PubMed:10576742). Phosphorylation of BAD stimulates its pro-apoptotic activity (PubMed:10926925). Phosphorylates KAT6A at 'Thr-369' and this phosphorylation inhibits the interaction of KAT6A with PML and negatively regulates its acetylation activity towards p53/TP53 (PubMed:23431171). Phosphorylates palladin (PALLD), modulating cytoskeletal organization and cell motility (PubMed:20471940). Phosphorylates prohibitin (PHB), playing an important role in cell metabolism and proliferation (PubMed:18507042). Phosphorylates CDKN1A, for which phosphorylation at 'Thr-145' induces its release from CDK2 and cytoplasmic relocalization (PubMed:16982699). These recent findings indicate that the AKT1 isoform has a more specific role in cell motility and proliferation (PubMed:16139227). Phosphorylates CLK2 thereby controlling cell survival to ionizing radiation (PubMed:20682768). Phosphorylates PCK1 at 'Ser-90', reducing the binding affinity of PCK1 to oxaloacetate and changing PCK1 into an atypical protein kinase activity using GTP as donor (PubMed:32322062). {ECO:0000250|UniProtKB:P31750, ECO:0000250|UniProtKB:P47196, ECO:0000269|PubMed:10358075, ECO:0000269|PubMed:10576742, ECO:0000269|PubMed:10926925, ECO:0000269|PubMed:11154276, ECO:0000269|PubMed:11994271, ECO:0000269|PubMed:12150915, ECO:0000269|PubMed:12176338, ECO:0000269|PubMed:12964941, ECO:0000269|PubMed:16139227, ECO:0000269|PubMed:16982699, ECO:0000269|PubMed:17726016, ECO:0000269|PubMed:18507042, ECO:0000269|PubMed:19592491, ECO:0000269|PubMed:19934221, ECO:0000269|PubMed:20086174, ECO:0000269|PubMed:20231902, ECO:0000269|PubMed:20471940, ECO:0000269|PubMed:20682768, ECO:0000269|PubMed:23431171, ECO:0000269|PubMed:32322062, ECO:0000269|PubMed:9829964, ECO:0000303|PubMed:11882383, ECO:0000303|PubMed:15526160, ECO:0000303|PubMed:21432781, ECO:0000303|PubMed:21620960}.FUNCTION: May play a critical role in death receptor-induced apoptosis and may target CASP8 and CASP10 to the nucleus. May regulate degradation of intermediate filaments during apoptosis. May play a role in the general transcription machinery in the nucleus and might be an important regulator of the activity of GTF3C3.

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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Fusion Gene Sequence for AKT1-DEDD2


check button 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 AKT1-DEDD2


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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Related Drugs for AKT1-DEDD2


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for AKT1-DEDD2


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