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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:CAPZA2-GAS6 (FusionGDB2 ID:HG830TG2621)

Fusion Gene Summary for CAPZA2-GAS6

check button Fusion gene summary
Fusion gene informationFusion gene name: CAPZA2-GAS6
Fusion gene ID: hg830tg2621
HgeneTgene
Gene symbol

CAPZA2

GAS6

Gene ID

830

2621

Gene namecapping actin protein of muscle Z-line subunit alpha 2growth arrest specific 6
SynonymsCAPPA2|CAPZAXLLG|AXSF
Cytomap('CAPZA2')('GAS6')

7q31.2

13q34

Type of geneprotein-codingprotein-coding
DescriptionF-actin-capping protein subunit alpha-2F-actin capping protein alpha-2 subunitcapZ alpha-2capping actin protein of muscle Z-line alpha subunit 2capping protein (actin filament) muscle Z-line, alpha 2epididymis secretory sperm binding proteingrowth arrest-specific protein 6AXL receptor tyrosine kinase ligandAXL stimulatory factor
Modification date2020031320200313
UniProtAcc

P47755

.
Ensembl transtripts involved in fusion geneENST00000466023, ENST00000361183, 
ENST00000458284, ENST00000490693, 
Fusion gene scores* DoF score17 X 6 X 9=9186 X 8 X 4=192
# samples 206
** MAII scorelog2(20/918*10)=-2.19849415363908
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(6/192*10)=-1.67807190511264
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CAPZA2 [Title/Abstract] AND GAS6 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCAPZA2(116502704)-GAS6(114526523), # samples:1
Anticipated loss of major functional domain due to fusion event.CAPZA2-GAS6 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
TgeneGAS6

GO:0001934

positive regulation of protein phosphorylation

7854420|16723520|20103767

TgeneGAS6

GO:0006468

protein phosphorylation

16359517

TgeneGAS6

GO:0006909

phagocytosis

21501828

TgeneGAS6

GO:0007165

signal transduction

7854420|18680538

TgeneGAS6

GO:0010628

positive regulation of gene expression

19657094

TgeneGAS6

GO:0010804

negative regulation of tumor necrosis factor-mediated signaling pathway

19657094

TgeneGAS6

GO:0018105

peptidyl-serine phosphorylation

18680538|20103767

TgeneGAS6

GO:0019064

fusion of virus membrane with host plasma membrane

21501828

TgeneGAS6

GO:0019079

viral genome replication

21501828

TgeneGAS6

GO:0032689

negative regulation of interferon-gamma production

18840707

TgeneGAS6

GO:0032715

negative regulation of interleukin-6 production

19657094

TgeneGAS6

GO:0032720

negative regulation of tumor necrosis factor production

19657094|20103767

TgeneGAS6

GO:0032825

positive regulation of natural killer cell differentiation

18840707

TgeneGAS6

GO:0033138

positive regulation of peptidyl-serine phosphorylation

16723520

TgeneGAS6

GO:0035457

cellular response to interferon-alpha

19657094

TgeneGAS6

GO:0035690

cellular response to drug

16359517

TgeneGAS6

GO:0035754

B cell chemotaxis

19922767

TgeneGAS6

GO:0043066

negative regulation of apoptotic process

19922767

TgeneGAS6

GO:0043154

negative regulation of cysteine-type endopeptidase activity involved in apoptotic process

16723520

TgeneGAS6

GO:0043277

apoptotic cell clearance

21501828

TgeneGAS6

GO:0043433

negative regulation of DNA-binding transcription factor activity

18680538

TgeneGAS6

GO:0043491

protein kinase B signaling

16723520|20103767

TgeneGAS6

GO:0045860

positive regulation of protein kinase activity

7854420

TgeneGAS6

GO:0045892

negative regulation of transcription, DNA-templated

18680538

TgeneGAS6

GO:0046718

viral entry into host cell

21501828

TgeneGAS6

GO:0046813

receptor-mediated virion attachment to host cell

21501828

TgeneGAS6

GO:0046827

positive regulation of protein export from nucleus

18680538

TgeneGAS6

GO:0048146

positive regulation of fibroblast proliferation

7854420|15184064

TgeneGAS6

GO:0050711

negative regulation of interleukin-1 secretion

20103767

TgeneGAS6

GO:0050766

positive regulation of phagocytosis

18395422

TgeneGAS6

GO:0051897

positive regulation of protein kinase B signaling

16359517|16723520|18680538

TgeneGAS6

GO:0061098

positive regulation of protein tyrosine kinase activity

20103767

TgeneGAS6

GO:0070168

negative regulation of biomineral tissue development

20048160

TgeneGAS6

GO:0070374

positive regulation of ERK1 and ERK2 cascade

15184064

TgeneGAS6

GO:0070588

calcium ion transmembrane transport

18395422

TgeneGAS6

GO:0071307

cellular response to vitamin K

16359517

TgeneGAS6

GO:0072659

protein localization to plasma membrane

16359517

TgeneGAS6

GO:0097241

hematopoietic stem cell migration to bone marrow

19922767

TgeneGAS6

GO:1900142

negative regulation of oligodendrocyte apoptotic process

16723520

TgeneGAS6

GO:1900165

negative regulation of interleukin-6 secretion

20103767

TgeneGAS6

GO:2000270

negative regulation of fibroblast apoptotic process

16359517

TgeneGAS6

GO:2000352

negative regulation of endothelial cell apoptotic process

16359517|18680538|18760998

TgeneGAS6

GO:2000510

positive regulation of dendritic cell chemotaxis

19657094

TgeneGAS6

GO:2000669

negative regulation of dendritic cell apoptotic process

19657094



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
ChimerDB4LUADTCGA-55-8620-01ACAPZA2chr7

116502704

+GAS6chr13

114526523

-


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Fusion Gene ORF analysis for CAPZA2-GAS6

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-3CDSENST00000466023ENST00000327773CAPZA2chr7

116502704

+GAS6chr13

114526523

-
3UTR-3CDSENST00000466023ENST00000357389CAPZA2chr7

116502704

+GAS6chr13

114526523

-
3UTR-intronENST00000466023ENST00000355761CAPZA2chr7

116502704

+GAS6chr13

114526523

-
3UTR-intronENST00000466023ENST00000418959CAPZA2chr7

116502704

+GAS6chr13

114526523

-
3UTR-intronENST00000466023ENST00000450766CAPZA2chr7

116502704

+GAS6chr13

114526523

-
3UTR-intronENST00000466023ENST00000476291CAPZA2chr7

116502704

+GAS6chr13

114526523

-
5CDS-intronENST00000361183ENST00000355761CAPZA2chr7

116502704

+GAS6chr13

114526523

-
5CDS-intronENST00000361183ENST00000418959CAPZA2chr7

116502704

+GAS6chr13

114526523

-
5CDS-intronENST00000361183ENST00000450766CAPZA2chr7

116502704

+GAS6chr13

114526523

-
5CDS-intronENST00000361183ENST00000476291CAPZA2chr7

116502704

+GAS6chr13

114526523

-
5CDS-intronENST00000458284ENST00000355761CAPZA2chr7

116502704

+GAS6chr13

114526523

-
5CDS-intronENST00000458284ENST00000418959CAPZA2chr7

116502704

+GAS6chr13

114526523

-
5CDS-intronENST00000458284ENST00000450766CAPZA2chr7

116502704

+GAS6chr13

114526523

-
5CDS-intronENST00000458284ENST00000476291CAPZA2chr7

116502704

+GAS6chr13

114526523

-
5CDS-intronENST00000490693ENST00000355761CAPZA2chr7

116502704

+GAS6chr13

114526523

-
5CDS-intronENST00000490693ENST00000418959CAPZA2chr7

116502704

+GAS6chr13

114526523

-
5CDS-intronENST00000490693ENST00000450766CAPZA2chr7

116502704

+GAS6chr13

114526523

-
5CDS-intronENST00000490693ENST00000476291CAPZA2chr7

116502704

+GAS6chr13

114526523

-
Frame-shiftENST00000361183ENST00000327773CAPZA2chr7

116502704

+GAS6chr13

114526523

-
Frame-shiftENST00000361183ENST00000357389CAPZA2chr7

116502704

+GAS6chr13

114526523

-
Frame-shiftENST00000458284ENST00000327773CAPZA2chr7

116502704

+GAS6chr13

114526523

-
Frame-shiftENST00000458284ENST00000357389CAPZA2chr7

116502704

+GAS6chr13

114526523

-
Frame-shiftENST00000490693ENST00000327773CAPZA2chr7

116502704

+GAS6chr13

114526523

-
Frame-shiftENST00000490693ENST00000357389CAPZA2chr7

116502704

+GAS6chr13

114526523

-

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 CAPZA2-GAS6


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 CAPZA2-GAS6


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/:116502704/:114526523)
- 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
CAPZA2

P47755

.
FUNCTION: F-actin-capping proteins bind in a Ca(2+)-independent manner to the fast growing ends of actin filaments (barbed end) thereby blocking the exchange of subunits at these ends. Unlike other capping proteins (such as gelsolin and severin), these proteins do not sever actin filaments.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 CAPZA2-GAS6


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 CAPZA2-GAS6


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 CAPZA2-GAS6


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 CAPZA2-GAS6


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneC0040053Thrombosis4CTD_human
TgeneC0087086Thrombus4CTD_human
TgeneC0010606Adenoid Cystic Carcinoma1CTD_human
TgeneC0011881Diabetic Nephropathy1CTD_human
TgeneC0017667Nodular glomerulosclerosis1CTD_human
TgeneC0018800Cardiomegaly1CTD_human
TgeneC0022660Kidney Failure, Acute1CTD_human
TgeneC0036095Salivary Gland Neoplasms1CTD_human
TgeneC0040038Thromboembolism1CTD_human
TgeneC0220636Malignant neoplasm of salivary gland1CTD_human
TgeneC1383860Cardiac Hypertrophy1CTD_human
TgeneC1565662Acute Kidney Insufficiency1CTD_human
TgeneC2609414Acute kidney injury1CTD_human