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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: 1399

FusionGeneSummary for AKT1_PPP3R1

check button Fusion gene summary
Fusion gene informationFusion gene name: AKT1_PPP3R1
Fusion gene ID: 1399
HgeneTgene
Gene symbol

AKT1

PPP3R1

Gene ID

207

5534

Gene nameAKT serine/threonine kinase 1protein phosphatase 3 regulatory subunit B, alpha
SynonymsAKT|CWS6|PKB|PKB-ALPHA|PRKBA|RAC|RAC-ALPHACALNB1|CNB|CNB1
Cytomap

14q32.33

2p14

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-lcalcineurin subunit B type 1calcineurin B, type I (19kDa)protein phosphatase 2B regulatory subunit 1protein phosphatase 2B regulatory subunit B alphaprotein phosphatase 3 (formerly 2B), regulatory subunit B (19kD), alpha isoform (calcineurin B, type I
Modification date2018052720180522
UniProtAcc

P31749

P63098

Ensembl transtripts involved in fusion geneENST00000554581, ENST00000407796, 
ENST00000349310, ENST00000402615, 
ENST00000555528, ENST00000554848, 
ENST00000555458, ENST00000554192, 
ENST00000544168, ENST00000554585, 
ENST00000234310, ENST00000409752, 
ENST00000409377, 
Fusion gene scores* DoF score2 X 2 X 2=84 X 4 X 2=32
# samples 24
** MAII scorelog2(2/8*10)=1.32192809488736log2(4/32*10)=0.321928094887362
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: AKT1 [Title/Abstract] AND PPP3R1 [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
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:0031659

positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle

18483258

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

TgenePPP3R1

GO:0033173

calcineurin-NFAT signaling cascade

22688515

TgenePPP3R1

GO:0045944

positive regulation of transcription by RNA polymerase II

22688515


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
ChiTaRS3.1BC063408AKT1chr14

105258934

-PPP3R1chr2

68406102

-
* 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
5CDS-3UTRENST00000554581ENST00000234310AKT1chr14

105258934

-PPP3R1chr2

68406102

-
5CDS-intronENST00000554581ENST00000409752AKT1chr14

105258934

-PPP3R1chr2

68406102

-
5CDS-intronENST00000554581ENST00000409377AKT1chr14

105258934

-PPP3R1chr2

68406102

-
5CDS-3UTRENST00000407796ENST00000234310AKT1chr14

105258934

-PPP3R1chr2

68406102

-
5CDS-intronENST00000407796ENST00000409752AKT1chr14

105258934

-PPP3R1chr2

68406102

-
5CDS-intronENST00000407796ENST00000409377AKT1chr14

105258934

-PPP3R1chr2

68406102

-
5CDS-3UTRENST00000349310ENST00000234310AKT1chr14

105258934

-PPP3R1chr2

68406102

-
5CDS-intronENST00000349310ENST00000409752AKT1chr14

105258934

-PPP3R1chr2

68406102

-
5CDS-intronENST00000349310ENST00000409377AKT1chr14

105258934

-PPP3R1chr2

68406102

-
5CDS-3UTRENST00000402615ENST00000234310AKT1chr14

105258934

-PPP3R1chr2

68406102

-
5CDS-intronENST00000402615ENST00000409752AKT1chr14

105258934

-PPP3R1chr2

68406102

-
5CDS-intronENST00000402615ENST00000409377AKT1chr14

105258934

-PPP3R1chr2

68406102

-
5CDS-3UTRENST00000555528ENST00000234310AKT1chr14

105258934

-PPP3R1chr2

68406102

-
5CDS-intronENST00000555528ENST00000409752AKT1chr14

105258934

-PPP3R1chr2

68406102

-
5CDS-intronENST00000555528ENST00000409377AKT1chr14

105258934

-PPP3R1chr2

68406102

-
5CDS-3UTRENST00000554848ENST00000234310AKT1chr14

105258934

-PPP3R1chr2

68406102

-
5CDS-intronENST00000554848ENST00000409752AKT1chr14

105258934

-PPP3R1chr2

68406102

-
5CDS-intronENST00000554848ENST00000409377AKT1chr14

105258934

-PPP3R1chr2

68406102

-
intron-3UTRENST00000555458ENST00000234310AKT1chr14

105258934

-PPP3R1chr2

68406102

-
intron-intronENST00000555458ENST00000409752AKT1chr14

105258934

-PPP3R1chr2

68406102

-
intron-intronENST00000555458ENST00000409377AKT1chr14

105258934

-PPP3R1chr2

68406102

-
intron-3UTRENST00000554192ENST00000234310AKT1chr14

105258934

-PPP3R1chr2

68406102

-
intron-intronENST00000554192ENST00000409752AKT1chr14

105258934

-PPP3R1chr2

68406102

-
intron-intronENST00000554192ENST00000409377AKT1chr14

105258934

-PPP3R1chr2

68406102

-
intron-3UTRENST00000544168ENST00000234310AKT1chr14

105258934

-PPP3R1chr2

68406102

-
intron-intronENST00000544168ENST00000409752AKT1chr14

105258934

-PPP3R1chr2

68406102

-
intron-intronENST00000544168ENST00000409377AKT1chr14

105258934

-PPP3R1chr2

68406102

-
intron-3UTRENST00000554585ENST00000234310AKT1chr14

105258934

-PPP3R1chr2

68406102

-
intron-intronENST00000554585ENST00000409752AKT1chr14

105258934

-PPP3R1chr2

68406102

-
intron-intronENST00000554585ENST00000409377AKT1chr14

105258934

-PPP3R1chr2

68406102

-

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FusionProtFeatures for AKT1_PPP3R1


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

P31749

PPP3R1

P63098

AKT1 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. PhosphorylatesSTK4/MST1 at 'Thr-120' and 'Thr-387' leading to inhibition of its:kinase activity, nuclear translocation, autophosphorylation andability to phosphorylate FOXO3. Phosphorylates STK3/MST2 at 'Thr-117' and 'Thr-384' leading to inhibition of its: cleavage, kinaseactivity, autophosphorylation at Thr-180, binding to RASSF1 andnuclear translocation. Phosphorylates SRPK2 and enhances itskinase activity towards SRSF2 and ACIN1 and promotes its nucleartranslocation. Phosphorylates RAF1 at 'Ser-259' and negativelyregulates its activity. Phosphorylation of BAD stimulates its pro-apoptotic activity. Phosphorylates KAT6A at 'Thr-369' and thisphosphorylation inhibits the interaction of KAT6A with PML andnegatively regulates its acetylation activity towards p53/TP53. AKT1-specific substrates have been recently identified,including palladin (PALLD), which phosphorylation modulatescytoskeletal organization and cell motility; prohibitin (PHB),playing an important role in cell metabolism and proliferation;and CDKN1A, for which phosphorylation at 'Thr-145' induces itsrelease from CDK2 and cytoplasmic relocalization. These recentfindings indicate that the AKT1 isoform has a more specific rolein cell motility and proliferation. Phosphorylates CLK2 therebycontrolling cell survival to ionizing radiation. Regulatory subunit of calcineurin, a calcium-dependent,calmodulin stimulated protein phosphatase. Confers calciumsensitivity. {ECO:0000269|PubMed:26794871}.

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 AKT1_PPP3R1


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 AKT1_PPP3R1


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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RelatedDrugs for AKT1_PPP3R1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneAKT1P31749DB01169Arsenic trioxideRAC-alpha serine/threonine-protein kinasesmall moleculeapproved|investigational

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RelatedDiseases for AKT1_PPP3R1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneAKT1C0005586Bipolar Disorder5PSYGENET
HgeneAKT1C0011570Mental Depression5PSYGENET
HgeneAKT1C0011581Depressive disorder5PSYGENET
HgeneAKT1C0036341Schizophrenia4CTD_human
HgeneAKT1C0085261Proteus Syndrome4ORPHANET;UNIPROT
HgeneAKT1C0024121Lung Neoplasms3CTD_human
HgeneAKT1C0525045Mood Disorders2PSYGENET
HgeneAKT1C0919267ovarian neoplasm2CTD_human
HgeneAKT1C0007137Squamous cell carcinoma1CTD_human
HgeneAKT1C0014544Epilepsy1CTD_human;HPO
HgeneAKT1C0016059Fibrosis1CTD_human
HgeneAKT1C0018800Cardiomegaly1CTD_human
HgeneAKT1C0020507Hyperplasia1CTD_human
HgeneAKT1C0021368Inflammation1CTD_human
HgeneAKT1C0023487Acute Promyelocytic Leukemia1CTD_human
HgeneAKT1C0024809Marijuana Abuse1CTD_human
HgeneAKT1C0025286Meningioma1CTD_human;HPO
HgeneAKT1C0026846Muscular Atrophy1CTD_human
HgeneAKT1C0028754Obesity1CTD_human
HgeneAKT1C0030193Pain1CTD_human
HgeneAKT1C0032580Adenomatous Polyposis Coli1CTD_human
HgeneAKT1C0033578Prostatic Neoplasms1CTD_human
HgeneAKT1C0033941Psychoses, Substance-Induced1CTD_human
HgeneAKT1C0037286Skin Neoplasms1CTD_human
HgeneAKT1C0079772T-Cell Lymphoma1CTD_human
HgeneAKT1C0236733Amphetamine-Related Disorders1CTD_human
HgeneAKT1C0428791Aortic valve calcification1CTD_human
HgeneAKT1C0878544Cardiomyopathies1CTD_human
HgeneAKT1C1168401Squamous cell carcinoma of the head and neck1CTD_human
HgeneAKT1C1458155Mammary Neoplasms1CTD_human
HgeneAKT1C3554519COWDEN SYNDROME 61UNIPROT
TgenePPP3R1C0036341Schizophrenia1PSYGENET
TgenePPP3R1C0149721Left Ventricular Hypertrophy1CTD_human
TgenePPP3R1C0151744Myocardial Ischemia1CTD_human