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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:FOXP2-CAV2 (FusionGDB2 ID:HG93986TG858)

Fusion Gene Summary for FOXP2-CAV2

check button Fusion gene summary
Fusion gene informationFusion gene name: FOXP2-CAV2
Fusion gene ID: hg93986tg858
HgeneTgene
Gene symbol

FOXP2

CAV2

Gene ID

93986

858

Gene nameforkhead box P2caveolin 2
SynonymsCAGH44|SPCH1|TNRC10CAV
Cytomap('FOXP2')('CAV2')

7q31.1

7q31.2

Type of geneprotein-codingprotein-coding
Descriptionforkhead box protein P2CAG repeat protein 44forkhead/winged-helix transcription factortrinucleotide repeat containing 10trinucleotide repeat-containing gene 10 proteincaveolin-2caveolae protein, 20-kDcaveolin 2 isoform a and b
Modification date2020031320200327
UniProtAcc.

P51636

Ensembl transtripts involved in fusion geneENST00000459666, ENST00000350908, 
ENST00000360232, ENST00000378237, 
ENST00000390668, ENST00000393494, 
ENST00000393498, ENST00000403559, 
ENST00000408937, ENST00000462331, 
ENST00000393489, ENST00000393500, 
ENST00000393491, 
Fusion gene scores* DoF score12 X 10 X 6=7202 X 2 X 2=8
# samples 122
** MAII scorelog2(12/720*10)=-2.58496250072116
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(2/8*10)=1.32192809488736
Context

PubMed: FOXP2 [Title/Abstract] AND CAV2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointFOXP2(114066734)-CAV2(116067376), # 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
HgeneFOXP2

GO:0045892

negative regulation of transcription, DNA-templated

18987363

TgeneCAV2

GO:0006906

vesicle fusion

12743374

TgeneCAV2

GO:0008286

insulin receptor signaling pathway

20455999

TgeneCAV2

GO:0016050

vesicle organization

12743374

TgeneCAV2

GO:0043410

positive regulation of MAPK cascade

20455999

TgeneCAV2

GO:0043547

positive regulation of GTPase activity

8552590

TgeneCAV2

GO:0048278

vesicle docking

12743374

TgeneCAV2

GO:0070836

caveola assembly

12743374



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
ChimerDB4PRADTCGA-EJ-5509-01AFOXP2chr7

114066734

+CAV2chr7

116067376

+


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Fusion Gene ORF analysis for FOXP2-CAV2

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
3UTR-3UTRENST00000459666ENST00000462876FOXP2chr7

114066734

+CAV2chr7

116067376

+
3UTR-intronENST00000459666ENST00000222693FOXP2chr7

114066734

+CAV2chr7

116067376

+
3UTR-intronENST00000459666ENST00000343213FOXP2chr7

114066734

+CAV2chr7

116067376

+
3UTR-intronENST00000459666ENST00000393480FOXP2chr7

114066734

+CAV2chr7

116067376

+
5CDS-3UTRENST00000350908ENST00000462876FOXP2chr7

114066734

+CAV2chr7

116067376

+
5CDS-3UTRENST00000360232ENST00000462876FOXP2chr7

114066734

+CAV2chr7

116067376

+
5CDS-3UTRENST00000378237ENST00000462876FOXP2chr7

114066734

+CAV2chr7

116067376

+
5CDS-3UTRENST00000390668ENST00000462876FOXP2chr7

114066734

+CAV2chr7

116067376

+
5CDS-3UTRENST00000393494ENST00000462876FOXP2chr7

114066734

+CAV2chr7

116067376

+
5CDS-3UTRENST00000393498ENST00000462876FOXP2chr7

114066734

+CAV2chr7

116067376

+
5CDS-3UTRENST00000403559ENST00000462876FOXP2chr7

114066734

+CAV2chr7

116067376

+
5CDS-3UTRENST00000408937ENST00000462876FOXP2chr7

114066734

+CAV2chr7

116067376

+
5CDS-3UTRENST00000462331ENST00000462876FOXP2chr7

114066734

+CAV2chr7

116067376

+
5CDS-intronENST00000350908ENST00000222693FOXP2chr7

114066734

+CAV2chr7

116067376

+
5CDS-intronENST00000350908ENST00000343213FOXP2chr7

114066734

+CAV2chr7

116067376

+
5CDS-intronENST00000350908ENST00000393480FOXP2chr7

114066734

+CAV2chr7

116067376

+
5CDS-intronENST00000360232ENST00000222693FOXP2chr7

114066734

+CAV2chr7

116067376

+
5CDS-intronENST00000360232ENST00000343213FOXP2chr7

114066734

+CAV2chr7

116067376

+
5CDS-intronENST00000360232ENST00000393480FOXP2chr7

114066734

+CAV2chr7

116067376

+
5CDS-intronENST00000378237ENST00000222693FOXP2chr7

114066734

+CAV2chr7

116067376

+
5CDS-intronENST00000378237ENST00000343213FOXP2chr7

114066734

+CAV2chr7

116067376

+
5CDS-intronENST00000378237ENST00000393480FOXP2chr7

114066734

+CAV2chr7

116067376

+
5CDS-intronENST00000390668ENST00000222693FOXP2chr7

114066734

+CAV2chr7

116067376

+
5CDS-intronENST00000390668ENST00000343213FOXP2chr7

114066734

+CAV2chr7

116067376

+
5CDS-intronENST00000390668ENST00000393480FOXP2chr7

114066734

+CAV2chr7

116067376

+
5CDS-intronENST00000393494ENST00000222693FOXP2chr7

114066734

+CAV2chr7

116067376

+
5CDS-intronENST00000393494ENST00000343213FOXP2chr7

114066734

+CAV2chr7

116067376

+
5CDS-intronENST00000393494ENST00000393480FOXP2chr7

114066734

+CAV2chr7

116067376

+
5CDS-intronENST00000393498ENST00000222693FOXP2chr7

114066734

+CAV2chr7

116067376

+
5CDS-intronENST00000393498ENST00000343213FOXP2chr7

114066734

+CAV2chr7

116067376

+
5CDS-intronENST00000393498ENST00000393480FOXP2chr7

114066734

+CAV2chr7

116067376

+
5CDS-intronENST00000403559ENST00000222693FOXP2chr7

114066734

+CAV2chr7

116067376

+
5CDS-intronENST00000403559ENST00000343213FOXP2chr7

114066734

+CAV2chr7

116067376

+
5CDS-intronENST00000403559ENST00000393480FOXP2chr7

114066734

+CAV2chr7

116067376

+
5CDS-intronENST00000408937ENST00000222693FOXP2chr7

114066734

+CAV2chr7

116067376

+
5CDS-intronENST00000408937ENST00000343213FOXP2chr7

114066734

+CAV2chr7

116067376

+
5CDS-intronENST00000408937ENST00000393480FOXP2chr7

114066734

+CAV2chr7

116067376

+
5CDS-intronENST00000462331ENST00000222693FOXP2chr7

114066734

+CAV2chr7

116067376

+
5CDS-intronENST00000462331ENST00000343213FOXP2chr7

114066734

+CAV2chr7

116067376

+
5CDS-intronENST00000462331ENST00000393480FOXP2chr7

114066734

+CAV2chr7

116067376

+
5UTR-3UTRENST00000393489ENST00000462876FOXP2chr7

114066734

+CAV2chr7

116067376

+
5UTR-3UTRENST00000393500ENST00000462876FOXP2chr7

114066734

+CAV2chr7

116067376

+
5UTR-intronENST00000393489ENST00000222693FOXP2chr7

114066734

+CAV2chr7

116067376

+
5UTR-intronENST00000393489ENST00000343213FOXP2chr7

114066734

+CAV2chr7

116067376

+
5UTR-intronENST00000393489ENST00000393480FOXP2chr7

114066734

+CAV2chr7

116067376

+
5UTR-intronENST00000393500ENST00000222693FOXP2chr7

114066734

+CAV2chr7

116067376

+
5UTR-intronENST00000393500ENST00000343213FOXP2chr7

114066734

+CAV2chr7

116067376

+
5UTR-intronENST00000393500ENST00000393480FOXP2chr7

114066734

+CAV2chr7

116067376

+
intron-3UTRENST00000393491ENST00000462876FOXP2chr7

114066734

+CAV2chr7

116067376

+
intron-intronENST00000393491ENST00000222693FOXP2chr7

114066734

+CAV2chr7

116067376

+
intron-intronENST00000393491ENST00000343213FOXP2chr7

114066734

+CAV2chr7

116067376

+
intron-intronENST00000393491ENST00000393480FOXP2chr7

114066734

+CAV2chr7

116067376

+

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 FOXP2-CAV2


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)
FOXP2chr7114066734+CAV2chr7116067375+8.40E-070.99999917
FOXP2chr7114066734+CAV2chr7116067375+8.40E-070.99999917


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 FOXP2-CAV2


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/:114066734/:116067376)
- 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
.CAV2

P51636

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: May act as a scaffolding protein within caveolar membranes. Interacts directly with G-protein alpha subunits and can functionally regulate their activity. Acts as an accessory protein in conjunction with CAV1 in targeting to lipid rafts and driving caveolae formation. The Ser-36 phosphorylated form has a role in modulating mitosis in endothelial cells. Positive regulator of cellular mitogenesis of the MAPK signaling pathway. Required for the insulin-stimulated nuclear translocation and activation of MAPK1 and STAT3, and the subsequent regulation of cell cycle progression (By similarity). {ECO:0000250, ECO:0000269|PubMed:15504032, ECO:0000269|PubMed:18081315}.

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 FOXP2-CAV2


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 FOXP2-CAV2


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 FOXP2-CAV2


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 FOXP2-CAV2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneFOXP2C0454651Specific language impairment11CLINGEN
HgeneFOXP2C0750927Apraxia, Developmental Verbal6CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneFOXP2C0036341Schizophrenia5PSYGENET
HgeneFOXP2C0003635Apraxias2CTD_human
HgeneFOXP2C0004352Autistic Disorder2CTD_human
HgeneFOXP2C0234526Ideational Apraxia2CTD_human
HgeneFOXP2C0234527Apraxia, Motor2CTD_human
HgeneFOXP2C0234529Dressing Apraxia2CTD_human
HgeneFOXP2C0264611Apraxia of Phonation2CTD_human
HgeneFOXP2C0349391Apraxia, Verbal2CTD_human
HgeneFOXP2C0422892Apraxia, Gestural2CTD_human
HgeneFOXP2C0454608Apraxia, Oral2CTD_human
HgeneFOXP2C0750928Apraxia, Facial-Oral2CTD_human
HgeneFOXP2C3495144Apraxia, Articulatory2CTD_human
HgeneFOXP2C47507837q31 microdeletion syndrome2ORPHANET
HgeneFOXP2C0010606Adenoid Cystic Carcinoma1CTD_human
HgeneFOXP2C0023012Language Delay1CTD_human
HgeneFOXP2C0023014Language Development Disorders1CTD_human
HgeneFOXP2C0041696Unipolar Depression1PSYGENET
HgeneFOXP2C0175693Russell-Silver syndrome1CTD_human
HgeneFOXP2C0241210Speech Delay1CTD_human
HgeneFOXP2C0376634Craniofacial Abnormalities1CTD_human
HgeneFOXP2C0454655Semantic-Pragmatic Disorder1CTD_human
HgeneFOXP2C0751257Auditory Processing Disorder, Central1CTD_human
HgeneFOXP2C1269683Major Depressive Disorder1PSYGENET
TgeneC0003873Rheumatoid Arthritis1CTD_human
TgeneC0004238Atrial Fibrillation1CTD_human
TgeneC0017612Glaucoma, Open-Angle1CTD_human
TgeneC0033578Prostatic Neoplasms1CTD_human
TgeneC0235480Paroxysmal atrial fibrillation1CTD_human
TgeneC0271148Secondary Open Angle Glaucoma1CTD_human
TgeneC0339573Glaucoma, Primary Open Angle1CTD_human
TgeneC0376358Malignant neoplasm of prostate1CTD_human
TgeneC2585653Persistent atrial fibrillation1CTD_human
TgeneC3468561familial atrial fibrillation1CTD_human