Fusion Gene Studies
in Kim Lab

FusionBase FusionGDB FusionGDB2 FusionPDB FusionNeoAntigen FusionAI FusionNW FGviewer Publication Contact
FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact
Center for Computational Systems Medicine
leaf

Fusion Gene Summary

leaf

Fusion Gene ORF analysis

leaf

Fusion Genomic Features

leaf

Fusion Protein Features

leaf

Fusion Gene Sequence

leaf

Fusion Gene PPI analysis

leaf

Related Drugs

leaf

Related Diseases

Fusion gene:PRSS23-AKT1 (FusionGDB2 ID:HG11098TG207)

Fusion Gene Summary for PRSS23-AKT1

check button Fusion gene summary
Fusion gene informationFusion gene name: PRSS23-AKT1
Fusion gene ID: hg11098tg207
HgeneTgene
Gene symbol

PRSS23

AKT1

Gene ID

11098

207

Gene nameserine protease 23AKT serine/threonine kinase 1
SynonymsSIG13|SPUVE|ZSIG13AKT|CWS6|PKB|PKB-ALPHA|PRKBA|RAC|RAC-ALPHA
Cytomap('PRSS23')('AKT1')

11q14.2

14q32.33

Type of geneprotein-codingprotein-coding
Descriptionserine protease 23protease, serine 23putative secreted protein Zsig13serine protease, umbilical endotheliumRAC-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-l
Modification date2020031320200329
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000533902, ENST00000280258, 
ENST00000441050, ENST00000531521, 
Fusion gene scores* DoF score9 X 8 X 4=2883 X 3 X 3=27
# samples 103
** MAII scorelog2(10/288*10)=-1.52606881166759
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(3/27*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: PRSS23 [Title/Abstract] AND AKT1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointPRSS23(86534635)-AKT1(105237184), # samples:1
Anticipated loss of major functional domain due to fusion event.PRSS23-AKT1 seems lost the major protein functional domain in Tgene partner, which is a cell metabolism gene due to the frame-shifted ORF.
PRSS23-AKT1 seems lost the major protein functional domain in Tgene partner, which is a CGC due to the frame-shifted ORF.
PRSS23-AKT1 seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
PRSS23-AKT1 seems lost the major protein functional domain in Tgene 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
TgeneAKT1

GO:0001934

positive regulation of protein phosphorylation

19057511

TgeneAKT1

GO:0006468

protein phosphorylation

11994271|14749367|23431171

TgeneAKT1

GO:0007173

epidermal growth factor receptor signaling pathway

20878056

TgeneAKT1

GO:0016310

phosphorylation

20333297

TgeneAKT1

GO:0018105

peptidyl-serine phosphorylation

16139227

TgeneAKT1

GO:0018107

peptidyl-threonine phosphorylation

20605787

TgeneAKT1

GO:0030307

positive regulation of cell growth

19203586

TgeneAKT1

GO:0032079

positive regulation of endodeoxyribonuclease activity

20605787

TgeneAKT1

GO:0033138

positive regulation of peptidyl-serine phosphorylation

19667065

TgeneAKT1

GO:0035556

intracellular signal transduction

14749367

TgeneAKT1

GO:0035655

interleukin-18-mediated signaling pathway

21321938

TgeneAKT1

GO:0043066

negative regulation of apoptotic process

19203586

TgeneAKT1

GO:0043536

positive regulation of blood vessel endothelial cell migration

20011604

TgeneAKT1

GO:0048661

positive regulation of smooth muscle cell proliferation

21321938

TgeneAKT1

GO:0051091

positive regulation of DNA-binding transcription factor activity

19057511

TgeneAKT1

GO:0070141

response to UV-A

18483258



check button 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4STADTCGA-FP-8210-01APRSS23chr11

86534635

+AKT1chr14

105237184

-


Top

Fusion Gene ORF analysis for PRSS23-AKT1

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-5UTRENST00000533902ENST00000554585PRSS23chr11

86534635

+AKT1chr14

105237184

-
Frame-shiftENST00000533902ENST00000349310PRSS23chr11

86534635

+AKT1chr14

105237184

-
Frame-shiftENST00000533902ENST00000402615PRSS23chr11

86534635

+AKT1chr14

105237184

-
Frame-shiftENST00000533902ENST00000407796PRSS23chr11

86534635

+AKT1chr14

105237184

-
Frame-shiftENST00000533902ENST00000544168PRSS23chr11

86534635

+AKT1chr14

105237184

-
Frame-shiftENST00000533902ENST00000554192PRSS23chr11

86534635

+AKT1chr14

105237184

-
Frame-shiftENST00000533902ENST00000554581PRSS23chr11

86534635

+AKT1chr14

105237184

-
Frame-shiftENST00000533902ENST00000554848PRSS23chr11

86534635

+AKT1chr14

105237184

-
Frame-shiftENST00000533902ENST00000555458PRSS23chr11

86534635

+AKT1chr14

105237184

-
Frame-shiftENST00000533902ENST00000555528PRSS23chr11

86534635

+AKT1chr14

105237184

-
intron-3CDSENST00000280258ENST00000349310PRSS23chr11

86534635

+AKT1chr14

105237184

-
intron-3CDSENST00000280258ENST00000402615PRSS23chr11

86534635

+AKT1chr14

105237184

-
intron-3CDSENST00000280258ENST00000407796PRSS23chr11

86534635

+AKT1chr14

105237184

-
intron-3CDSENST00000280258ENST00000544168PRSS23chr11

86534635

+AKT1chr14

105237184

-
intron-3CDSENST00000280258ENST00000554192PRSS23chr11

86534635

+AKT1chr14

105237184

-
intron-3CDSENST00000280258ENST00000554581PRSS23chr11

86534635

+AKT1chr14

105237184

-
intron-3CDSENST00000280258ENST00000554848PRSS23chr11

86534635

+AKT1chr14

105237184

-
intron-3CDSENST00000280258ENST00000555458PRSS23chr11

86534635

+AKT1chr14

105237184

-
intron-3CDSENST00000280258ENST00000555528PRSS23chr11

86534635

+AKT1chr14

105237184

-
intron-3CDSENST00000441050ENST00000349310PRSS23chr11

86534635

+AKT1chr14

105237184

-
intron-3CDSENST00000441050ENST00000402615PRSS23chr11

86534635

+AKT1chr14

105237184

-
intron-3CDSENST00000441050ENST00000407796PRSS23chr11

86534635

+AKT1chr14

105237184

-
intron-3CDSENST00000441050ENST00000544168PRSS23chr11

86534635

+AKT1chr14

105237184

-
intron-3CDSENST00000441050ENST00000554192PRSS23chr11

86534635

+AKT1chr14

105237184

-
intron-3CDSENST00000441050ENST00000554581PRSS23chr11

86534635

+AKT1chr14

105237184

-
intron-3CDSENST00000441050ENST00000554848PRSS23chr11

86534635

+AKT1chr14

105237184

-
intron-3CDSENST00000441050ENST00000555458PRSS23chr11

86534635

+AKT1chr14

105237184

-
intron-3CDSENST00000441050ENST00000555528PRSS23chr11

86534635

+AKT1chr14

105237184

-
intron-3CDSENST00000531521ENST00000349310PRSS23chr11

86534635

+AKT1chr14

105237184

-
intron-3CDSENST00000531521ENST00000402615PRSS23chr11

86534635

+AKT1chr14

105237184

-
intron-3CDSENST00000531521ENST00000407796PRSS23chr11

86534635

+AKT1chr14

105237184

-
intron-3CDSENST00000531521ENST00000544168PRSS23chr11

86534635

+AKT1chr14

105237184

-
intron-3CDSENST00000531521ENST00000554192PRSS23chr11

86534635

+AKT1chr14

105237184

-
intron-3CDSENST00000531521ENST00000554581PRSS23chr11

86534635

+AKT1chr14

105237184

-
intron-3CDSENST00000531521ENST00000554848PRSS23chr11

86534635

+AKT1chr14

105237184

-
intron-3CDSENST00000531521ENST00000555458PRSS23chr11

86534635

+AKT1chr14

105237184

-
intron-3CDSENST00000531521ENST00000555528PRSS23chr11

86534635

+AKT1chr14

105237184

-
intron-5UTRENST00000280258ENST00000554585PRSS23chr11

86534635

+AKT1chr14

105237184

-
intron-5UTRENST00000441050ENST00000554585PRSS23chr11

86534635

+AKT1chr14

105237184

-
intron-5UTRENST00000531521ENST00000554585PRSS23chr11

86534635

+AKT1chr14

105237184

-

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

Top

Fusion Genomic Features for PRSS23-AKT1


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)


Top

Fusion Protein Features for PRSS23-AKT1


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/:86534635/:105237184)
- 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


Top

Fusion Gene Sequence for PRSS23-AKT1


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.

Top

Fusion Gene PPI Analysis for PRSS23-AKT1


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


Top

Related Drugs for PRSS23-AKT1


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

Top

Related Diseases for PRSS23-AKT1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePRSS23C0025202melanoma1CTD_human
TgeneC0005586Bipolar Disorder5PSYGENET
TgeneC0011570Mental Depression5PSYGENET
TgeneC0011581Depressive disorder5PSYGENET
TgeneC0036341Schizophrenia5CTD_human;GENOMICS_ENGLAND
TgeneC0006142Malignant neoplasm of breast3CGI;CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneC0024121Lung Neoplasms3CTD_human
TgeneC0085261Proteus Syndrome3CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneC0242379Malignant neoplasm of lung3CTD_human
TgeneC1140680Malignant neoplasm of ovary3CGI;CTD_human;GENOMICS_ENGLAND
TgeneC0021368Inflammation2CTD_human
TgeneC0033578Prostatic Neoplasms2CTD_human
TgeneC0376358Malignant neoplasm of prostate2CTD_human
TgeneC0525045Mood Disorders2PSYGENET
TgeneC0919267ovarian neoplasm2CGI;CTD_human
TgeneC0006868Cannabis Abuse1CTD_human
TgeneC0006870Cannabis Dependence1CTD_human
TgeneC0007114Malignant neoplasm of skin1CTD_human
TgeneC0007137Squamous cell carcinoma1CTD_human
TgeneC0009402Colorectal Carcinoma1CTD_human;GENOMICS_ENGLAND
TgeneC0014544Epilepsy1CTD_human
TgeneC0016059Fibrosis1CTD_human
TgeneC0018553Hamartoma Syndrome, Multiple1ORPHANET
TgeneC0018614Hashish Abuse1CTD_human
TgeneC0018800Cardiomegaly1CTD_human
TgeneC0020507Hyperplasia1CTD_human
TgeneC0023487Acute Promyelocytic Leukemia1CTD_human
TgeneC0024809Marijuana Abuse1CTD_human
TgeneC0025286Meningioma1CGI;CTD_human
TgeneC0026846Muscular Atrophy1CTD_human
TgeneC0028754Obesity1CTD_human
TgeneC0030193Pain1CTD_human
TgeneC0032580Adenomatous Polyposis Coli1CTD_human
TgeneC0032927Precancerous Conditions1CTD_human
TgeneC0033141Cardiomyopathies, Primary1CTD_human
TgeneC0033937Psychoses, Drug1CTD_human
TgeneC0033941Psychoses, Substance-Induced1CTD_human
TgeneC0036529Myocardial Diseases, Secondary1CTD_human
TgeneC0037286Skin Neoplasms1CTD_human
TgeneC0079772T-Cell Lymphoma1CTD_human
TgeneC0086237Epilepsy, Cryptogenic1CTD_human
TgeneC0205834Meningiomas, Multiple1CTD_human
TgeneC0234230Pain, Burning1CTD_human
TgeneC0234238Ache1CTD_human
TgeneC0234254Radiating pain1CTD_human
TgeneC0236018Aura1CTD_human
TgeneC0236733Amphetamine-Related Disorders1CTD_human
TgeneC0236735Cannabis-Related Disorder1CTD_human
TgeneC0236804Amphetamine Addiction1CTD_human
TgeneC0236807Amphetamine Abuse1CTD_human
TgeneC0259785Malignant Meningioma1CTD_human
TgeneC0270948Neurogenic Muscular Atrophy1CTD_human
TgeneC0281784Benign Meningioma1CTD_human
TgeneC0282313Condition, Preneoplastic1CTD_human
TgeneC0334605Meningothelial meningioma1CTD_human
TgeneC0334606Fibrous Meningioma1CTD_human
TgeneC0334607Psammomatous Meningioma1CTD_human
TgeneC0334608Angiomatous Meningioma1CTD_human
TgeneC0334609Hemangioblastic Meningioma1CTD_human
TgeneC0334610Hemangiopericytic Meningioma1CTD_human
TgeneC0334611Transitional Meningioma1CTD_human
TgeneC0347515Spinal Meningioma1CTD_human
TgeneC0349604Intracranial Meningioma1CTD_human
TgeneC0428791Aortic valve calcification1CTD_human
TgeneC0431121Clear Cell Meningioma1CTD_human
TgeneC0457190Xanthomatous Meningioma1CTD_human
TgeneC0458257Pain, Splitting1CTD_human
TgeneC0458259Pain, Crushing1CTD_human
TgeneC0678222Breast Carcinoma1CGI;CTD_human
TgeneC0751111Awakening Epilepsy1CTD_human
TgeneC0751303Cerebral Convexity Meningioma1CTD_human
TgeneC0751304Parasagittal Meningioma1CTD_human
TgeneC0751407Pain, Migratory1CTD_human
TgeneC0751408Suffering, Physical1CTD_human
TgeneC0878544Cardiomyopathies1CTD_human
TgeneC1168401Squamous cell carcinoma of the head and neck1CTD_human
TgeneC1257931Mammary Neoplasms, Human1CTD_human
TgeneC1334261Intraorbital Meningioma1CTD_human
TgeneC1334271Intraventricular Meningioma1CTD_human
TgeneC1335107Olfactory Groove Meningioma1CTD_human
TgeneC1383860Cardiac Hypertrophy1CTD_human
TgeneC1384406Secretory meningioma1CTD_human
TgeneC1384408Microcystic meningioma1CTD_human
TgeneC1458155Mammary Neoplasms1CTD_human
TgeneC1527197Angioblastic Meningioma1CTD_human
TgeneC1565950Posterior Fossa Meningioma1CTD_human
TgeneC1565951Sphenoid Wing Meningioma1CTD_human
TgeneC1623038Cirrhosis1CTD_human
TgeneC2713442Polyposis, Adenomatous Intestinal1CTD_human
TgeneC2713443Familial Intestinal Polyposis1CTD_human
TgeneC3163622Papillary Meningioma1CTD_human
TgeneC3554519COWDEN SYNDROME 61CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneC4704874Mammary Carcinoma, Human1CTD_human