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:CAPZA2-S100A8 (FusionGDB2 ID:HG830TG6279)

Fusion Gene Summary for CAPZA2-S100A8

check button Fusion gene summary
Fusion gene informationFusion gene name: CAPZA2-S100A8
Fusion gene ID: hg830tg6279
HgeneTgene
Gene symbol

CAPZA2

S100A8

Gene ID

830

6279

Gene namecapping actin protein of muscle Z-line subunit alpha 2S100 calcium binding protein A8
SynonymsCAPPA2|CAPZ60B8AG|CAGA|CFAG|CGLA|CP-10|L1Ag|MA387|MIF|MRP8|NIF|P8
Cytomap('CAPZA2')('S100A8')

7q31.2

1q21.3

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 proteinprotein S100-A8calgranulin Acalprotectin L1L subunitcystic fibrosis antigenleukocyte L1 complex light chainmigration inhibitory factor-related protein 8urinary stone protein band A
Modification date2020031320200329
UniProtAcc

P47755

.
Ensembl transtripts involved in fusion geneENST00000466023, ENST00000361183, 
ENST00000458284, ENST00000490693, 
Fusion gene scores* DoF score17 X 6 X 9=9189 X 9 X 4=324
# samples 2010
** MAII scorelog2(20/918*10)=-2.19849415363908
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(10/324*10)=-1.6959938131099
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CAPZA2 [Title/Abstract] AND S100A8 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCAPZA2(116502704)-S100A8(153363033), # samples:2
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
TgeneS100A8

GO:0002523

leukocyte migration involved in inflammatory response

12626582

TgeneS100A8

GO:0006914

autophagy

19935772

TgeneS100A8

GO:0006919

activation of cysteine-type endopeptidase activity involved in apoptotic process

19935772

TgeneS100A8

GO:0030593

neutrophil chemotaxis

12626582

TgeneS100A8

GO:0050729

positive regulation of inflammatory response

12626582

TgeneS100A8

GO:0070488

neutrophil aggregation

12626582

TgeneS100A8

GO:2001244

positive regulation of intrinsic apoptotic signaling pathway

19935772



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
ChimerDB4CESCTCGA-EA-A44S-01ACAPZA2chr7

116502704

+S100A8chr1

153363033

-
ChimerDB4CESCTCGA-EA-A44SCAPZA2chr7

116502704

+S100A8chr1

153363033

-


Top

Fusion Gene ORF analysis for CAPZA2-S100A8

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-5UTRENST00000466023ENST00000368732CAPZA2chr7

116502704

+S100A8chr1

153363033

-
3UTR-5UTRENST00000466023ENST00000368733CAPZA2chr7

116502704

+S100A8chr1

153363033

-
3UTR-5UTRENST00000466023ENST00000477801CAPZA2chr7

116502704

+S100A8chr1

153363033

-
5CDS-5UTRENST00000361183ENST00000368732CAPZA2chr7

116502704

+S100A8chr1

153363033

-
5CDS-5UTRENST00000361183ENST00000368733CAPZA2chr7

116502704

+S100A8chr1

153363033

-
5CDS-5UTRENST00000361183ENST00000477801CAPZA2chr7

116502704

+S100A8chr1

153363033

-
5CDS-5UTRENST00000458284ENST00000368732CAPZA2chr7

116502704

+S100A8chr1

153363033

-
5CDS-5UTRENST00000458284ENST00000368733CAPZA2chr7

116502704

+S100A8chr1

153363033

-
5CDS-5UTRENST00000458284ENST00000477801CAPZA2chr7

116502704

+S100A8chr1

153363033

-
5CDS-5UTRENST00000490693ENST00000368732CAPZA2chr7

116502704

+S100A8chr1

153363033

-
5CDS-5UTRENST00000490693ENST00000368733CAPZA2chr7

116502704

+S100A8chr1

153363033

-
5CDS-5UTRENST00000490693ENST00000477801CAPZA2chr7

116502704

+S100A8chr1

153363033

-

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 CAPZA2-S100A8


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 CAPZA2-S100A8


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/:153363033)
- 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


Top

Fusion Gene Sequence for CAPZA2-S100A8


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 CAPZA2-S100A8


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 CAPZA2-S100A8


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 CAPZA2-S100A8


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneC0011615Dermatitis, Atopic1CTD_human
TgeneC0011616Contact Dermatitis1CTD_human
TgeneC0022548Keloid1CTD_human
TgeneC0023467Leukemia, Myelocytic, Acute1CTD_human
TgeneC0024667Animal Mammary Neoplasms1CTD_human
TgeneC0026998Acute Myeloid Leukemia, M11CTD_human
TgeneC0086196Eczema, Infantile1CTD_human
TgeneC0162351Contact hypersensitivity1CTD_human
TgeneC1257925Mammary Carcinoma, Animal1CTD_human
TgeneC1879321Acute Myeloid Leukemia (AML-M2)1CTD_human