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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:KPNA3-FGF2 (FusionGDB2 ID:HG3839TG2247)

Fusion Gene Summary for KPNA3-FGF2

check button Fusion gene summary
Fusion gene informationFusion gene name: KPNA3-FGF2
Fusion gene ID: hg3839tg2247
HgeneTgene
Gene symbol

KPNA3

FGF2

Gene ID

3839

2247

Gene namekaryopherin subunit alpha 3fibroblast growth factor 2
SynonymsIPOA4|SRP1|SRP1gamma|SRP4|hSRP1BFGF|FGF-2|FGFB|HBGF-2
Cytomap('KPNA3')('FGF2')

13q14.2

4q28.1

Type of geneprotein-codingprotein-coding
Descriptionimportin subunit alpha-4SRP1-gammaimportin alpha 4importin alpha Q2importin alpha-3importin subunit alpha-3karyopherin alpha 3 (importin alpha 4)qip2fibroblast growth factor 2basic fibroblast growth factor bFGFfibroblast growth factor 2 (basic)heparin-binding growth factor 2prostatropin
Modification date2020031320200329
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000261667, 
Fusion gene scores* DoF score9 X 5 X 7=3151 X 2 X 1=2
# samples 112
** MAII scorelog2(11/315*10)=-1.51784830486262
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(2/2*10)=3.32192809488736
Context

PubMed: KPNA3 [Title/Abstract] AND FGF2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointKPNA3(50321085)-FGF2(123797476), # samples:3
Anticipated loss of major functional domain due to fusion event.KPNA3-FGF2 seems lost the major protein functional domain in Hgene partner, which is a essential gene 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
TgeneFGF2

GO:0001658

branching involved in ureteric bud morphogenesis

12631064

TgeneFGF2

GO:0001938

positive regulation of endothelial cell proliferation

16756958

TgeneFGF2

GO:0002042

cell migration involved in sprouting angiogenesis

18059339

TgeneFGF2

GO:0006661

phosphatidylinositol biosynthetic process

20011604

TgeneFGF2

GO:0008284

positive regulation of cell proliferation

2161540

TgeneFGF2

GO:0008543

fibroblast growth factor receptor signaling pathway

16774925|17500071

TgeneFGF2

GO:0010764

negative regulation of fibroblast migration

19577615

TgeneFGF2

GO:0010863

positive regulation of phospholipase C activity

20011604

TgeneFGF2

GO:0030214

hyaluronan catabolic process

19577615

TgeneFGF2

GO:0032958

inositol phosphate biosynthetic process

20011604

TgeneFGF2

GO:0042060

wound healing

16756958

TgeneFGF2

GO:0042660

positive regulation of cell fate specification

18635606

TgeneFGF2

GO:0043406

positive regulation of MAP kinase activity

16756958

TgeneFGF2

GO:0043536

positive regulation of blood vessel endothelial cell migration

18555217|20011604|28302677

TgeneFGF2

GO:0043537

negative regulation of blood vessel endothelial cell migration

18555217

TgeneFGF2

GO:0043552

positive regulation of phosphatidylinositol 3-kinase activity

20011604

TgeneFGF2

GO:0045766

positive regulation of angiogenesis

16774925|20011604|28302677

TgeneFGF2

GO:0045893

positive regulation of transcription, DNA-templated

17500071

TgeneFGF2

GO:0045944

positive regulation of transcription by RNA polymerase II

18059339

TgeneFGF2

GO:0051209

release of sequestered calcium ion into cytosol

20011604

TgeneFGF2

GO:0060045

positive regulation of cardiac muscle cell proliferation

9553078

TgeneFGF2

GO:0060548

negative regulation of cell death

12631064

TgeneFGF2

GO:0060591

chondroblast differentiation

17167778

TgeneFGF2

GO:0061045

negative regulation of wound healing

19577615

TgeneFGF2

GO:0070374

positive regulation of ERK1 and ERK2 cascade

17167778

TgeneFGF2

GO:0090050

positive regulation of cell migration involved in sprouting angiogenesis

28302677

TgeneFGF2

GO:1903672

positive regulation of sprouting angiogenesis

16756958

TgeneFGF2

GO:2000544

regulation of endothelial cell chemotaxis to fibroblast growth factor

16756958

TgeneFGF2

GO:2000546

positive regulation of endothelial cell chemotaxis to fibroblast growth factor

16756958

TgeneFGF2

GO:2000573

positive regulation of DNA biosynthetic process

16774925



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
ChimerDB4BLCATCGA-E5-A2PC-01AKPNA3chr13

50321085

-FGF2chr4

123797476

+
ChimerDB4BLCATCGA-E5-A2PCKPNA3chr13

50321084

-FGF2chr4

123797475

+


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Fusion Gene ORF analysis for KPNA3-FGF2

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
Frame-shiftENST00000261667ENST00000264498KPNA3chr13

50321085

-FGF2chr4

123797476

+
Frame-shiftENST00000261667ENST00000264498KPNA3chr13

50321084

-FGF2chr4

123797475

+
Frame-shiftENST00000261667ENST00000608478KPNA3chr13

50321085

-FGF2chr4

123797476

+
Frame-shiftENST00000261667ENST00000608478KPNA3chr13

50321084

-FGF2chr4

123797475

+

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 KPNA3-FGF2


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)
KPNA3chr1350321084-FGF2chr4123797475+3.20E-060.9999968
KPNA3chr1350321084-FGF2chr4123797475+3.20E-060.9999968
KPNA3chr1350321084-FGF2chr4123797475+3.20E-060.9999968
KPNA3chr1350321084-FGF2chr4123797475+3.20E-060.9999968


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.
genomic feature of top 1%

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Fusion Protein Features for KPNA3-FGF2


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/:50321085/:123797476)
- 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 KPNA3-FGF2


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 KPNA3-FGF2


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 KPNA3-FGF2


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 KPNA3-FGF2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneKPNA3C0036341Schizophrenia3PSYGENET
HgeneKPNA3C0001973Alcoholic Intoxication, Chronic1PSYGENET
HgeneKPNA3C0041696Unipolar Depression1PSYGENET
HgeneKPNA3C1269683Major Depressive Disorder1PSYGENET
TgeneC0525045Mood Disorders3PSYGENET
TgeneC0151744Myocardial Ischemia2CTD_human
TgeneC0008924Cleft upper lip1CTD_human
TgeneC0008925Cleft Palate1CTD_human
TgeneC0009171Cocaine Abuse1CTD_human
TgeneC0011573Endogenous depression1CTD_human
TgeneC0011581Depressive disorder1CTD_human
TgeneC0014549Tonic-Clonic Epilepsy1CTD_human
TgeneC0017638Glioma1CTD_human
TgeneC0017639Gliosis1CTD_human
TgeneC0018800Cardiomegaly1CTD_human
TgeneC0019284Diaphragmatic Hernia1CTD_human
TgeneC0021368Inflammation1CTD_human
TgeneC0022333Jacksonian Seizure1CTD_human
TgeneC0022658Kidney Diseases1CTD_human
TgeneC0023890Liver Cirrhosis1CTD_human
TgeneC0023893Liver Cirrhosis, Experimental1CTD_human
TgeneC0025193Melancholia1CTD_human
TgeneC0025500Mesothelioma1CTD_human
TgeneC0027719Nephrosclerosis1CTD_human
TgeneC0027726Nephrotic Syndrome1CTD_human
TgeneC0027746Nerve Degeneration1CTD_human
TgeneC0029172Oral Submucous Fibrosis1CTD_human
TgeneC0031030Periapical Periodontitis1CTD_human
TgeneC0033054Prenatal Exposure Delayed Effects1CTD_human
TgeneC0033578Prostatic Neoplasms1CTD_human
TgeneC0034069Pulmonary Fibrosis1CTD_human
TgeneC0035126Reperfusion Injury1CTD_human
TgeneC0036341Schizophrenia1PSYGENET
TgeneC0036572Seizures1CTD_human
TgeneC0040028Thrombocythemia, Essential1CTD_human
TgeneC0041696Unipolar Depression1CTD_human
TgeneC0085109Corneal Neovascularization1CTD_human
TgeneC0085207Gestational Diabetes1CTD_human
TgeneC0086133Depressive Syndrome1CTD_human
TgeneC0149958Complex partial seizures1CTD_human
TgeneC0234533Generalized seizures1CTD_human
TgeneC0234535Clonic Seizures1CTD_human
TgeneC0235874Disease Exacerbation1CTD_human
TgeneC0236736Cocaine-Related Disorders1CTD_human
TgeneC0239946Fibrosis, Liver1CTD_human
TgeneC0259783mixed gliomas1CTD_human
TgeneC0270824Visual seizure1CTD_human
TgeneC0270844Tonic Seizures1CTD_human
TgeneC0270846Epileptic drop attack1CTD_human
TgeneC0282126Depression, Neurotic1CTD_human
TgeneC0376358Malignant neoplasm of prostate1CTD_human
TgeneC0393953Anterior Cerebral Circulation Infarction1CTD_human
TgeneC0422850Seizures, Somatosensory1CTD_human
TgeneC0422852Seizures, Auditory1CTD_human
TgeneC0422853Olfactory seizure1CTD_human
TgeneC0422854Gustatory seizure1CTD_human
TgeneC0422855Vertiginous seizure1CTD_human
TgeneC0494475Tonic - clonic seizures1CTD_human
TgeneC0524686Periodontitis, Acute Nonsuppurative1CTD_human
TgeneC0555198Malignant Glioma1CTD_human
TgeneC0600427Cocaine Dependence1CTD_human
TgeneC0751056Non-epileptic convulsion1CTD_human
TgeneC0751110Single Seizure1CTD_human
TgeneC0751117Cryptogenic Tonic-Clonic Epilepsy1CTD_human
TgeneC0751118Epilepsy, Tonic-Clonic, Familial1CTD_human
TgeneC0751119Epilepsy, Tonic-Clonic, Symptomatic1CTD_human
TgeneC0751123Atonic Absence Seizures1CTD_human
TgeneC0751494Convulsive Seizures1CTD_human
TgeneC0751495Seizures, Focal1CTD_human
TgeneC0751496Seizures, Sensory1CTD_human
TgeneC0751952Anterior Circulation Brain Infarction1CTD_human
TgeneC0751953Brain Infarction, Posterior Circulation1CTD_human
TgeneC0751954Venous Infarction, Brain1CTD_human
TgeneC0751955Brain Infarction1CTD_human
TgeneC1383860Cardiac Hypertrophy1CTD_human
TgeneC1837218Cleft palate, isolated1CTD_human
TgeneC3489628Thrombocytosis, Autosomal Dominant1CTD_human
TgeneC3495874Nonepileptic Seizures1CTD_human
TgeneC3887640Astrocytosis1CTD_human
TgeneC4048158Convulsions1CTD_human
TgeneC4316903Absence Seizures1CTD_human
TgeneC4317109Epileptic Seizures1CTD_human
TgeneC4317123Myoclonic Seizures1CTD_human
TgeneC4505436Generalized Absence Seizures1CTD_human
TgeneC4721507Alveolitis, Fibrosing1CTD_human