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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-PPP3R1 (FusionGDB2 ID:HG207TG5534)

Fusion Gene Summary for AKT1-PPP3R1

check button Fusion gene summary
Fusion gene informationFusion gene name: AKT1-PPP3R1
Fusion gene ID: hg207tg5534
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('AKT1')('PPP3R1')

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 date2020032920200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000349310, ENST00000402615, 
ENST00000407796, ENST00000554581, 
ENST00000554848, ENST00000555528, 
ENST00000544168, ENST00000554192, 
ENST00000554585, ENST00000555458, 
Fusion gene scores* DoF score10 X 6 X 4=2405 X 4 X 4=80
# samples 106
** MAII scorelog2(10/240*10)=-1.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(6/80*10)=-0.415037499278844
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

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

Most frequent breakpointAKT1(105258934)-PPP3R1(68406102), # 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)

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

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 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
ChiTaRS5.0N/ABC063408AKT1chr14

105258934

-PPP3R1chr2

68406102

-


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Fusion Gene ORF analysis for AKT1-PPP3R1

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-3UTRENST00000349310ENST00000234310AKT1chr14

105258934

-PPP3R1chr2

68406102

-
5CDS-3UTRENST00000402615ENST00000234310AKT1chr14

105258934

-PPP3R1chr2

68406102

-
5CDS-3UTRENST00000407796ENST00000234310AKT1chr14

105258934

-PPP3R1chr2

68406102

-
5CDS-3UTRENST00000554581ENST00000234310AKT1chr14

105258934

-PPP3R1chr2

68406102

-
5CDS-3UTRENST00000554848ENST00000234310AKT1chr14

105258934

-PPP3R1chr2

68406102

-
5CDS-3UTRENST00000555528ENST00000234310AKT1chr14

105258934

-PPP3R1chr2

68406102

-
5CDS-intronENST00000349310ENST00000409377AKT1chr14

105258934

-PPP3R1chr2

68406102

-
5CDS-intronENST00000349310ENST00000409752AKT1chr14

105258934

-PPP3R1chr2

68406102

-
5CDS-intronENST00000402615ENST00000409377AKT1chr14

105258934

-PPP3R1chr2

68406102

-
5CDS-intronENST00000402615ENST00000409752AKT1chr14

105258934

-PPP3R1chr2

68406102

-
5CDS-intronENST00000407796ENST00000409377AKT1chr14

105258934

-PPP3R1chr2

68406102

-
5CDS-intronENST00000407796ENST00000409752AKT1chr14

105258934

-PPP3R1chr2

68406102

-
5CDS-intronENST00000554581ENST00000409377AKT1chr14

105258934

-PPP3R1chr2

68406102

-
5CDS-intronENST00000554581ENST00000409752AKT1chr14

105258934

-PPP3R1chr2

68406102

-
5CDS-intronENST00000554848ENST00000409377AKT1chr14

105258934

-PPP3R1chr2

68406102

-
5CDS-intronENST00000554848ENST00000409752AKT1chr14

105258934

-PPP3R1chr2

68406102

-
5CDS-intronENST00000555528ENST00000409377AKT1chr14

105258934

-PPP3R1chr2

68406102

-
5CDS-intronENST00000555528ENST00000409752AKT1chr14

105258934

-PPP3R1chr2

68406102

-
intron-3UTRENST00000544168ENST00000234310AKT1chr14

105258934

-PPP3R1chr2

68406102

-
intron-3UTRENST00000554192ENST00000234310AKT1chr14

105258934

-PPP3R1chr2

68406102

-
intron-3UTRENST00000554585ENST00000234310AKT1chr14

105258934

-PPP3R1chr2

68406102

-
intron-3UTRENST00000555458ENST00000234310AKT1chr14

105258934

-PPP3R1chr2

68406102

-
intron-intronENST00000544168ENST00000409377AKT1chr14

105258934

-PPP3R1chr2

68406102

-
intron-intronENST00000544168ENST00000409752AKT1chr14

105258934

-PPP3R1chr2

68406102

-
intron-intronENST00000554192ENST00000409377AKT1chr14

105258934

-PPP3R1chr2

68406102

-
intron-intronENST00000554192ENST00000409752AKT1chr14

105258934

-PPP3R1chr2

68406102

-
intron-intronENST00000554585ENST00000409377AKT1chr14

105258934

-PPP3R1chr2

68406102

-
intron-intronENST00000554585ENST00000409752AKT1chr14

105258934

-PPP3R1chr2

68406102

-
intron-intronENST00000555458ENST00000409377AKT1chr14

105258934

-PPP3R1chr2

68406102

-
intron-intronENST00000555458ENST00000409752AKT1chr14

105258934

-PPP3R1chr2

68406102

-

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-PPP3R1


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)


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Fusion Protein Features for AKT1-PPP3R1


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/:105258934/:68406102)
- 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
..
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}.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}.

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-PPP3R1


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-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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Related Drugs for AKT1-PPP3R1


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-PPP3R1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneAKT1C0005586Bipolar Disorder5PSYGENET
HgeneAKT1C0011570Mental Depression5PSYGENET
HgeneAKT1C0011581Depressive disorder5PSYGENET
HgeneAKT1C0036341Schizophrenia5CTD_human;GENOMICS_ENGLAND
HgeneAKT1C0006142Malignant neoplasm of breast3CGI;CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneAKT1C0024121Lung Neoplasms3CTD_human
HgeneAKT1C0085261Proteus Syndrome3CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneAKT1C0242379Malignant neoplasm of lung3CTD_human
HgeneAKT1C1140680Malignant neoplasm of ovary3CGI;CTD_human;GENOMICS_ENGLAND
HgeneAKT1C0021368Inflammation2CTD_human
HgeneAKT1C0033578Prostatic Neoplasms2CTD_human
HgeneAKT1C0376358Malignant neoplasm of prostate2CTD_human
HgeneAKT1C0525045Mood Disorders2PSYGENET
HgeneAKT1C0919267ovarian neoplasm2CGI;CTD_human
HgeneAKT1C0006868Cannabis Abuse1CTD_human
HgeneAKT1C0006870Cannabis Dependence1CTD_human
HgeneAKT1C0007114Malignant neoplasm of skin1CTD_human
HgeneAKT1C0007137Squamous cell carcinoma1CTD_human
HgeneAKT1C0009402Colorectal Carcinoma1CTD_human;GENOMICS_ENGLAND
HgeneAKT1C0014544Epilepsy1CTD_human
HgeneAKT1C0016059Fibrosis1CTD_human
HgeneAKT1C0018553Hamartoma Syndrome, Multiple1ORPHANET
HgeneAKT1C0018614Hashish Abuse1CTD_human
HgeneAKT1C0018800Cardiomegaly1CTD_human
HgeneAKT1C0020507Hyperplasia1CTD_human
HgeneAKT1C0023487Acute Promyelocytic Leukemia1CTD_human
HgeneAKT1C0024809Marijuana Abuse1CTD_human
HgeneAKT1C0025286Meningioma1CGI;CTD_human
HgeneAKT1C0026846Muscular Atrophy1CTD_human
HgeneAKT1C0028754Obesity1CTD_human
HgeneAKT1C0030193Pain1CTD_human
HgeneAKT1C0032580Adenomatous Polyposis Coli1CTD_human
HgeneAKT1C0032927Precancerous Conditions1CTD_human
HgeneAKT1C0033141Cardiomyopathies, Primary1CTD_human
HgeneAKT1C0033937Psychoses, Drug1CTD_human
HgeneAKT1C0033941Psychoses, Substance-Induced1CTD_human
HgeneAKT1C0036529Myocardial Diseases, Secondary1CTD_human
HgeneAKT1C0037286Skin Neoplasms1CTD_human
HgeneAKT1C0079772T-Cell Lymphoma1CTD_human
HgeneAKT1C0086237Epilepsy, Cryptogenic1CTD_human
HgeneAKT1C0205834Meningiomas, Multiple1CTD_human
HgeneAKT1C0234230Pain, Burning1CTD_human
HgeneAKT1C0234238Ache1CTD_human
HgeneAKT1C0234254Radiating pain1CTD_human
HgeneAKT1C0236018Aura1CTD_human
HgeneAKT1C0236733Amphetamine-Related Disorders1CTD_human
HgeneAKT1C0236735Cannabis-Related Disorder1CTD_human
HgeneAKT1C0236804Amphetamine Addiction1CTD_human
HgeneAKT1C0236807Amphetamine Abuse1CTD_human
HgeneAKT1C0259785Malignant Meningioma1CTD_human
HgeneAKT1C0270948Neurogenic Muscular Atrophy1CTD_human
HgeneAKT1C0281784Benign Meningioma1CTD_human
HgeneAKT1C0282313Condition, Preneoplastic1CTD_human
HgeneAKT1C0334605Meningothelial meningioma1CTD_human
HgeneAKT1C0334606Fibrous Meningioma1CTD_human
HgeneAKT1C0334607Psammomatous Meningioma1CTD_human
HgeneAKT1C0334608Angiomatous Meningioma1CTD_human
HgeneAKT1C0334609Hemangioblastic Meningioma1CTD_human
HgeneAKT1C0334610Hemangiopericytic Meningioma1CTD_human
HgeneAKT1C0334611Transitional Meningioma1CTD_human
HgeneAKT1C0347515Spinal Meningioma1CTD_human
HgeneAKT1C0349604Intracranial Meningioma1CTD_human
HgeneAKT1C0428791Aortic valve calcification1CTD_human
HgeneAKT1C0431121Clear Cell Meningioma1CTD_human
HgeneAKT1C0457190Xanthomatous Meningioma1CTD_human
HgeneAKT1C0458257Pain, Splitting1CTD_human
HgeneAKT1C0458259Pain, Crushing1CTD_human
HgeneAKT1C0678222Breast Carcinoma1CGI;CTD_human
HgeneAKT1C0751111Awakening Epilepsy1CTD_human
HgeneAKT1C0751303Cerebral Convexity Meningioma1CTD_human
HgeneAKT1C0751304Parasagittal Meningioma1CTD_human
HgeneAKT1C0751407Pain, Migratory1CTD_human
HgeneAKT1C0751408Suffering, Physical1CTD_human
HgeneAKT1C0878544Cardiomyopathies1CTD_human
HgeneAKT1C1168401Squamous cell carcinoma of the head and neck1CTD_human
HgeneAKT1C1257931Mammary Neoplasms, Human1CTD_human
HgeneAKT1C1334261Intraorbital Meningioma1CTD_human
HgeneAKT1C1334271Intraventricular Meningioma1CTD_human
HgeneAKT1C1335107Olfactory Groove Meningioma1CTD_human
HgeneAKT1C1383860Cardiac Hypertrophy1CTD_human
HgeneAKT1C1384406Secretory meningioma1CTD_human
HgeneAKT1C1384408Microcystic meningioma1CTD_human
HgeneAKT1C1458155Mammary Neoplasms1CTD_human
HgeneAKT1C1527197Angioblastic Meningioma1CTD_human
HgeneAKT1C1565950Posterior Fossa Meningioma1CTD_human
HgeneAKT1C1565951Sphenoid Wing Meningioma1CTD_human
HgeneAKT1C1623038Cirrhosis1CTD_human
HgeneAKT1C2713442Polyposis, Adenomatous Intestinal1CTD_human
HgeneAKT1C2713443Familial Intestinal Polyposis1CTD_human
HgeneAKT1C3163622Papillary Meningioma1CTD_human
HgeneAKT1C3554519COWDEN SYNDROME 61CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneAKT1C4704874Mammary Carcinoma, Human1CTD_human
TgeneC0036341Schizophrenia1PSYGENET
TgeneC0149721Left Ventricular Hypertrophy1CTD_human
TgeneC0151744Myocardial Ischemia1CTD_human