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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: 1410

FusionGeneSummary for AKT2_UPF1

check button Fusion gene summary
Fusion gene informationFusion gene name: AKT2_UPF1
Fusion gene ID: 1410
HgeneTgene
Gene symbol

AKT2

UPF1

Gene ID

208

5976

Gene nameAKT serine/threonine kinase 2UPF1, RNA helicase and ATPase
SynonymsHIHGHH|PKBB|PKBBETA|PRKBB|RAC-BETAHUPF1|NORF1|RENT1|pNORF1|smg-2
Cytomap

19q13.2

19p13.11

Type of geneprotein-codingprotein-coding
DescriptionRAC-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 hregulator of nonsense transcripts 1ATP-dependent helicase RENT1UPF1 regulator of nonsense transcripts homologdelta helicasenonsense mRNA reducing factor 1smg-2 homolog, nonsense mediated mRNA decay factorup-frameshift mutation 1 homologup-frameshif
Modification date2018052720180523
UniProtAcc

P31751

Q92900

Ensembl transtripts involved in fusion geneENST00000392038, ENST00000424901, 
ENST00000311278, ENST00000579047, 
ENST00000581582, 
ENST00000262803, 
ENST00000599848, ENST00000600310, 
Fusion gene scores* DoF score13 X 10 X 9=11704 X 5 X 3=60
# samples 135
** MAII scorelog2(13/1170*10)=-3.16992500144231
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(5/60*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: AKT2 [Title/Abstract] AND UPF1 [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
HgeneAKT2

GO:0030335

positive regulation of cell migration

25428377

TgeneUPF1

GO:0000184

nuclear-transcribed mRNA catabolic process, nonsense-mediated decay

17468741

TgeneUPF1

GO:0006281

DNA repair

16488880

TgeneUPF1

GO:0032201

telomere maintenance via semi-conservative replication

21829167

TgeneUPF1

GO:0071222

cellular response to lipopolysaccharide

26255671

TgeneUPF1

GO:0071347

cellular response to interleukin-1

26255671


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
TCGARVLGGTCGA-P5-A5EU-01AAKT2chr19

40791088

-UPF1chr19

18956789

+
* 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
5UTR-3CDSENST00000392038ENST00000262803AKT2chr19

40791088

-UPF1chr19

18956789

+
5UTR-3CDSENST00000392038ENST00000599848AKT2chr19

40791088

-UPF1chr19

18956789

+
5UTR-intronENST00000392038ENST00000600310AKT2chr19

40791088

-UPF1chr19

18956789

+
intron-3CDSENST00000424901ENST00000262803AKT2chr19

40791088

-UPF1chr19

18956789

+
intron-3CDSENST00000424901ENST00000599848AKT2chr19

40791088

-UPF1chr19

18956789

+
intron-intronENST00000424901ENST00000600310AKT2chr19

40791088

-UPF1chr19

18956789

+
intron-3CDSENST00000311278ENST00000262803AKT2chr19

40791088

-UPF1chr19

18956789

+
intron-3CDSENST00000311278ENST00000599848AKT2chr19

40791088

-UPF1chr19

18956789

+
intron-intronENST00000311278ENST00000600310AKT2chr19

40791088

-UPF1chr19

18956789

+
5UTR-3CDSENST00000579047ENST00000262803AKT2chr19

40791088

-UPF1chr19

18956789

+
5UTR-3CDSENST00000579047ENST00000599848AKT2chr19

40791088

-UPF1chr19

18956789

+
5UTR-intronENST00000579047ENST00000600310AKT2chr19

40791088

-UPF1chr19

18956789

+
intron-3CDSENST00000581582ENST00000262803AKT2chr19

40791088

-UPF1chr19

18956789

+
intron-3CDSENST00000581582ENST00000599848AKT2chr19

40791088

-UPF1chr19

18956789

+
intron-intronENST00000581582ENST00000600310AKT2chr19

40791088

-UPF1chr19

18956789

+

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FusionProtFeatures for AKT2_UPF1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
AKT2

P31751

UPF1

Q92900

AKT2 is one of 3 closely related serine/threonine-protein kinases (AKT1, AKT2 and AKT3) called the AKT kinase, andwhich regulate many processes including metabolism, proliferation,cell survival, growth and angiogenesis. This is mediated throughserine and/or threonine phosphorylation of a range of downstreamsubstrates. Over 100 substrate candidates have been reported sofar, but for most of them, no isoform specificity has beenreported. AKT is responsible of the regulation of glucose uptakeby mediating insulin-induced translocation of the SLC2A4/GLUT4glucose transporter to the cell surface. Phosphorylation of PTPN1at 'Ser-50' negatively modulates its phosphatase activitypreventing dephosphorylation of the insulin receptor and theattenuation of insulin signaling. Phosphorylation of TBC1D4triggers the binding of this effector to inhibitory 14-3-3proteins, which is required for insulin-stimulated glucosetransport. AKT regulates also the storage of glucose in the formof 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 onemechanism by which cell proliferation is driven. AKT regulatesalso cell survival via the phosphorylation of MAP3K5 (apoptosissignal-related kinase). Phosphorylation of 'Ser-83' decreasesMAP3K5 kinase activity stimulated by oxidative stress and therebyprevents apoptosis. AKT mediates insulin-stimulated proteinsynthesis by phosphorylating TSC2 at 'Ser-939' and 'Thr-1462',thereby activating mTORC1 signaling and leading to bothphosphorylation of 4E-BP1 and in activation of RPS6KB1. AKT isinvolved in the phosphorylation of members of the FOXO factors(Forkhead family of transcription factors), leading to binding of14-3-3 proteins and cytoplasmic localization. In particular, FOXO1is phosphorylated at 'Thr-24', 'Ser-256' and 'Ser-319'. FOXO3 andFOXO4 are phosphorylated on equivalent sites. AKT has an importantrole in the regulation of NF-kappa-B-dependent gene transcriptionand positively regulates the activity of CREB1 (cyclic AMP (cAMP)-response element binding protein). The phosphorylation of CREB1induces the binding of accessory proteins that are necessary forthe transcription of pro-survival genes such as BCL2 and MCL1. AKTphosphorylates 'Ser-454' on ATP citrate lyase (ACLY), therebypotentially regulating ACLY activity and fatty acid synthesis.Activates the 3B isoform of cyclic nucleotide phosphodiesterase(PDE3B) via phosphorylation of 'Ser-273', resulting in reducedcyclic AMP levels and inhibition of lipolysis. PhosphorylatesPIKFYVE on 'Ser-318', which results in increased PI(3)P-5activity. The Rho GTPase-activating protein DLC1 is anothersubstrate and its phosphorylation is implicated in the regulationcell proliferation and cell growth. AKT plays a role as keymodulator of the AKT-mTOR signaling pathway controlling the tempoof the process of newborn neurons integration during adultneurogenesis, including correct neuron positioning, dendriticdevelopment and synapse formation. Signals downstream ofphosphatidylinositol 3-kinase (PI(3)K) to mediate the effects ofvarious growth factors such as platelet-derived growth factor(PDGF), epidermal growth factor (EGF), insulin and insulin-likegrowth factor I (IGF-I). AKT mediates the antiapoptotic effects ofIGF-I. Essential for the SPATA13-mediated regulation of cellmigration and adhesion assembly and disassembly. May be involvedin the regulation of the placental development. One of the few specific substrates of AKT2 identifiedrecently is PITX2. Phosphorylation of PITX2 impairs itsassociation with the CCND1 mRNA-stabilizing complex thusshortening the half-life of CCND1. AKT2 seems also to be theprincipal isoform responsible of the regulation of glucose uptake.Phosphorylates C2CD5 on 'Ser-197' during insulin-stimulatedadipocytes. AKT2 is also specifically involved in skeletal muscledifferentiation, one of its substrates in this process beingANKRD2. Down-regulation by RNA interference reduces the expressionof the phosphorylated form of BAD, resulting in the induction ofcaspase-dependent apoptosis. Phosphorylates CLK2 on 'Thr-343'. RNA-dependent helicase and ATPase required for nonsense-mediated decay (NMD) of mRNAs containing premature stop codons. Isrecruited to mRNAs upon translation termination and undergoes acycle of phosphorylation and dephosphorylation; itsphosphorylation appears to be a key step in NMD. Recruited byrelease factors to stalled ribosomes together with the SMG1Cprotein kinase complex to form the transient SURF (SMG1-UPF1-eRF1-eRF3) complex. In EJC-dependent NMD, the SURF complex associateswith the exon junction complex (EJC) (located 50-55 or morenucleotides downstream from the termination codon) through UPF2and allows the formation of an UPF1-UPF2-UPF3 surveillance complexwhich is believed to activate NMD. Phosphorylated UPF1 isrecognized by EST1B/SMG5, SMG6 and SMG7 which are thought toprovide a link to the mRNA degradation machinery involvingexonucleolytic and endonucleolytic pathways, and to serve asadapters to protein phosphatase 2A (PP2A), thereby triggering UPF1dephosphorylation and allowing the recycling of NMD factors. UPF1can also activate NMD without UPF2 or UPF3, and in the absence ofthe NMD-enhancing downstream EJC indicative for alternative NMDpathways. Plays a role in replication-dependent histone mRNAdegradation at the end of phase S; the function is independent ofUPF2. For the recognition of premature termination codons (PTC)and initiation of NMD a competitive interaction between UPF1 andPABPC1 with the ribosome-bound release factors is proposed. TheATPase activity of UPF1 is required for disassembly of mRNPsundergoing NMD. Essential for embryonic viability.{ECO:0000269|PubMed:11163187, ECO:0000269|PubMed:16086026,ECO:0000269|PubMed:18172165, ECO:0000269|PubMed:21145460,ECO:0000269|PubMed:21419344}.

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 AKT2_UPF1


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 AKT2_UPF1


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
AKT2APPL1, SH3RF1, GSK3B, TCL1A, CHUK, PRKDC, TCL1B, MTCP1, XIAP, SETDB1, TTC3, ESR1, GRK5, SKI, VIM, FSHR, APP, HSP90AA1, MAP3K5, PNPLA3, SNX27, APOA1, APOB, CCL14, SPRR2A, SORBS2, NAMPT, TMED2, POFUT1, ABCG8, STEAP4, POLR1B, EGFR, PRKCZ, CLIP3, PLEKHO1, SNAI1, HIST1H3A, CDKN1A, PSMD9, CDK3, CSK, EIF4EBP1, GGA1, PIK3CB, PIK3CD, RPE, TMEM17, AP4M1, RACGAP1, AKT1, UBE2O, NR2F2, TPM2, USP9Y, FAT3, UBB, NSMCE4A, VHL, EGLN1, PPP2CA, PDPK1, UCHL1, WDR26, GNB1UPF1HIRA, UPF2, UPF3B, DCP2, XRN1, EXOSC2, EXOSC4, PARN, EXOSC10, PABPC1, UPF3A, SMG1, DCP1A, ATR, POLD1, SLBP, HDAC5, CSNK2B, NDRG1, SIRT7, TSG101, CUL3, CUL5, CDK2, COPS5, CAND1, RNPS1, HNRNPU, HDLBP, VPS35, TMX1, SMG8, SMG9, RBM8A, RPL11, RPS6, EEF2, GSPT1, RPL7A, RPS3, NCBP1, NCBP2, EIF4A3, MAGOH, ESR1, HBB, SMG5, SMG7, SMG6, ETF1, EDC4, EDC3, ADAR, SNRPN, SNRPB, VCAM1, FN1, YWHAQ, EIF3A, EIF3B, EIF2S1, EIF2S2, ITGA4, FUS, GSPT2, RUVBL1, RUVBL2, PLEKHB2, NADSYN1, ACSS2, ABHD16A, RHOXF2, RPRD2, GNPTG, NDUFB10, DXO, LSM8, PLEKHA5, TARDBP, LIN28A, MOV10, POP1, STAU1, STAU2, DNA2, CDC37, IVNS1ABP, EZH2, SUZ12, RNF2, BMI1, HIST1H1A, TRA2A, RPL6, NIFK, MEMO1, ZC3H3, HNRNPA1, PRR11, ILF2, ABCF3, DIAPH1, HNRNPR, SMARCA4, SYNCRIP, TTC4, UBL7, DDX5, NTRK1, IFI16, FBXW11, EWSR1, CEP170, CEP104, CEP162, CNTRL, NIN, RPGRIP1L, SCLT1, DCTN1, CEP19, STIL, XPO1, CNOT2, OAZ1, SORT1, SAMD1, SNW1, CDC5L, PCGF1, DPPA4, POU5F1, U2AF2, WDR46, ELAVL2, GLTSCR2, DGCR8, APOBEC3D, CDX1, SNRNP70, HIST1H1T, PRDM5, ZCRB1, STRBP, HIST1H1E, ZC3H18, E4F1, H2AFX, NXF2, ZC3HAV1, PPAN, RPF1, NSA2, ZFC3H1, FGF8, ZNF576, RBM3, CYLD, TRIM25, G3BP1, BRCA1, YAP1


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 AKT2_UPF1


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 AKT2_UPF1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneAKT2C0005586Bipolar Disorder1PSYGENET
HgeneAKT2C0011860Diabetes Mellitus, Non-Insulin-Dependent1CTD_human;HPO;UNIPROT
HgeneAKT2C0271694Familial partial lipodystrophy1CTD_human
HgeneAKT2C1458155Mammary Neoplasms1CTD_human
HgeneAKT2C2931822Nasopharyngeal carcinoma1CTD_human
HgeneAKT2C3278384HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY1ORPHANET;UNIPROT