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-RARRES1 (FusionGDB2 ID:HG830TG5918)

Fusion Gene Summary for CAPZA2-RARRES1

check button Fusion gene summary
Fusion gene informationFusion gene name: CAPZA2-RARRES1
Fusion gene ID: hg830tg5918
HgeneTgene
Gene symbol

CAPZA2

RARRES1

Gene ID

830

5918

Gene namecapping actin protein of muscle Z-line subunit alpha 2retinoic acid receptor responder 1
SynonymsCAPPA2|CAPZLXNL|PERG-1|TIG1
Cytomap('CAPZA2')('RARRES1')

7q31.2

3q25.32

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 proteinretinoic acid receptor responder protein 1RAR-responsive protein TIG1latexin-likephorbol ester-induced gene 1 proteinretinoic acid receptor responder (tazarotene induced) 1tazarotene-induced gene 1 protein
Modification date2020031320200313
UniProtAcc

P47755

.
Ensembl transtripts involved in fusion geneENST00000466023, ENST00000361183, 
ENST00000458284, ENST00000490693, 
Fusion gene scores* DoF score17 X 6 X 9=9183 X 3 X 3=27
# samples 203
** MAII scorelog2(20/918*10)=-2.19849415363908
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: CAPZA2 [Title/Abstract] AND RARRES1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCAPZA2(116502704)-RARRES1(158415759), # 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

check buttonFusion gene breakpoints across CAPZA2 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure
check buttonFusion gene breakpoints across RARRES1 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

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-FU-A23K-01ACAPZA2chr7

116502704

+RARRES1chr3

158415759

-


Top

Fusion Gene ORF analysis for CAPZA2-RARRES1

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-3CDSENST00000466023ENST00000237696CAPZA2chr7

116502704

+RARRES1chr3

158415759

-
3UTR-intronENST00000466023ENST00000479756CAPZA2chr7

116502704

+RARRES1chr3

158415759

-
3UTR-intronENST00000466023ENST00000498640CAPZA2chr7

116502704

+RARRES1chr3

158415759

-
5CDS-intronENST00000361183ENST00000479756CAPZA2chr7

116502704

+RARRES1chr3

158415759

-
5CDS-intronENST00000361183ENST00000498640CAPZA2chr7

116502704

+RARRES1chr3

158415759

-
5CDS-intronENST00000458284ENST00000479756CAPZA2chr7

116502704

+RARRES1chr3

158415759

-
5CDS-intronENST00000458284ENST00000498640CAPZA2chr7

116502704

+RARRES1chr3

158415759

-
5CDS-intronENST00000490693ENST00000479756CAPZA2chr7

116502704

+RARRES1chr3

158415759

-
5CDS-intronENST00000490693ENST00000498640CAPZA2chr7

116502704

+RARRES1chr3

158415759

-
In-frameENST00000361183ENST00000237696CAPZA2chr7

116502704

+RARRES1chr3

158415759

-
In-frameENST00000458284ENST00000237696CAPZA2chr7

116502704

+RARRES1chr3

158415759

-
In-frameENST00000490693ENST00000237696CAPZA2chr7

116502704

+RARRES1chr3

158415759

-

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)
ENST00000361183CAPZA2chr7116502704+ENST00000237696RARRES1chr3158415759-117717810039096
ENST00000458284CAPZA2chr7116502704+ENST00000237696RARRES1chr3158415759-1091921430496
ENST00000490693CAPZA2chr7116502704+ENST00000237696RARRES1chr3158415759-1050511226383

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
ENST00000361183ENST00000237696CAPZA2chr7116502704+RARRES1chr3158415759-0.0558121060.9441879
ENST00000458284ENST00000237696CAPZA2chr7116502704+RARRES1chr3158415759-0.079432570.9205674
ENST00000490693ENST00000237696CAPZA2chr7116502704+RARRES1chr3158415759-0.131036640.86896336

Top

Fusion Genomic Features for CAPZA2-RARRES1


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)

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.
genomic feature

Top

Fusion Protein Features for CAPZA2-RARRES1


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/chr7:116502704/chr3:158415759)
- 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
TgeneRARRES1chr7:116502704chr3:158415759ENST00000479756041_200229.0Topological domainLumenal
TgeneRARRES1chr7:116502704chr3:158415759ENST000004797560443_2940229.0Topological domainCytoplasmic
TgeneRARRES1chr7:116502704chr3:158415759ENST000004797560421_420229.0TransmembraneHelical%3B Signal-anchor for type III membrane protein

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
TgeneRARRES1chr7:116502704chr3:158415759ENST00000237696361_20224295.0Topological domainLumenal
TgeneRARRES1chr7:116502704chr3:158415759ENST000002376963643_294224295.0Topological domainCytoplasmic
TgeneRARRES1chr7:116502704chr3:158415759ENST000002376963621_42224295.0TransmembraneHelical%3B Signal-anchor for type III membrane protein


Top

Fusion Gene Sequence for CAPZA2-RARRES1


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.
>12987_12987_1_CAPZA2-RARRES1_CAPZA2_chr7_116502704_ENST00000361183_RARRES1_chr3_158415759_ENST00000237696_length(transcript)=1177nt_BP=178nt
CCCGGGGTGCGCGTGCGCGGCGGCCTGAGCGGCGGGCCCCTCCCTTAGCGGGGGCGCGCGGCGCTGAGGACCGCACGGAAACGGGGAAGT
CAGGTGGCCGCTGCCGCCGCCGCCGCCGCGGTTTGTCGCCAGAAGGAAGATGGCGGATCTGGAGGAGCAGTTGTCTGATGAAGAGAAGAA
AACTAATGATGATACAATTGATTTTGATTATACTGTTCTACTTCATGAATTATCAACACAGGAAATAATTCCCTGTCGCATTCACTTGGT
CTGGTACCCTGGCAAACCTCTTAAAGTGAAGTACCACTGTCAAGAGCTACAGACACCAGAAGAAGCCTCCGGAACTGAAGAAGGATCAGC
TGTAGTACCAACAGAGCTTAGTAATTTCTAAAAAGAAAAAATGATCTTTTTCCGACTTCTAAACAAGTGACTATACTAGCATAAATCATT
CTTCTAGTAAAACAGCTAAGGTATAGACATTCTAATAATTTGGGAAAACCTATGATTACAAGTAAAAACTCAGAAATGCAAAGATGTTGG
TTTTTTGTTTCTCAGTCTGCTTTAGCTTTTAACTCTGGAAGCGCATGCACACTGAACTCTGCTCAGTGCTAAACAGTCACCAGCAGGTTC
CTCAGGGTTTCAGCCCTAAAATGTAAAACCTGGATAATCAGTGTATGTTGCACCAGAATCAGCATTTTTTTTTTAACTGCAAAAAATGAT
GGTCTCATCTCTGAATTTATATTTCTCATTCTTTTGAACATACTATAGCTAATATATTTTATGTTGCTAAATTGCTTCTATCTAGCATGT
TAAACAAAGATAATATACTTTCGATGAAAGTAAATTATAGGAAAAAAATTAACTGTTTTAAAAAGAACTTGATTATGTTTTATGATTTCA
GGCAAGTATTCATTTTTAACTTGCTACCTACTTTTAAATAAATGTTTACATTTCTAAATAATGAAATGTGTTGAATGTTCTCGTGAAGAT
TTGTATACAAAGGAAAAATTTGTGCTAAACTGGAATTAAATGAAATGGTAATATTGCTTAACTTAAATTTTACAAATAATAGAACGTCTG
TCTCACCAGATAAAGCTGTCTGCAAACATGCATCAAAAGAAACACTGATGTAACTGAAAGTATATTAAATATTTACAATTTTCATTTACA

>12987_12987_1_CAPZA2-RARRES1_CAPZA2_chr7_116502704_ENST00000361183_RARRES1_chr3_158415759_ENST00000237696_length(amino acids)=96AA_BP=26
MPPPPPRFVARRKMADLEEQLSDEEKKTNDDTIDFDYTVLLHELSTQEIIPCRIHLVWYPGKPLKVKYHCQELQTPEEASGTEEGSAVVP

--------------------------------------------------------------
>12987_12987_2_CAPZA2-RARRES1_CAPZA2_chr7_116502704_ENST00000458284_RARRES1_chr3_158415759_ENST00000237696_length(transcript)=1091nt_BP=92nt
AAGTCAGGTGGCCGCTGCCGCCGCCGCCGCCGCGGTTTGTCGCCAGAAGGAAGATGGCGGATCTGGAGGAGCAGTTGTCTGATGAAGAGA
AGAAAACTAATGATGATACAATTGATTTTGATTATACTGTTCTACTTCATGAATTATCAACACAGGAAATAATTCCCTGTCGCATTCACT
TGGTCTGGTACCCTGGCAAACCTCTTAAAGTGAAGTACCACTGTCAAGAGCTACAGACACCAGAAGAAGCCTCCGGAACTGAAGAAGGAT
CAGCTGTAGTACCAACAGAGCTTAGTAATTTCTAAAAAGAAAAAATGATCTTTTTCCGACTTCTAAACAAGTGACTATACTAGCATAAAT
CATTCTTCTAGTAAAACAGCTAAGGTATAGACATTCTAATAATTTGGGAAAACCTATGATTACAAGTAAAAACTCAGAAATGCAAAGATG
TTGGTTTTTTGTTTCTCAGTCTGCTTTAGCTTTTAACTCTGGAAGCGCATGCACACTGAACTCTGCTCAGTGCTAAACAGTCACCAGCAG
GTTCCTCAGGGTTTCAGCCCTAAAATGTAAAACCTGGATAATCAGTGTATGTTGCACCAGAATCAGCATTTTTTTTTTAACTGCAAAAAA
TGATGGTCTCATCTCTGAATTTATATTTCTCATTCTTTTGAACATACTATAGCTAATATATTTTATGTTGCTAAATTGCTTCTATCTAGC
ATGTTAAACAAAGATAATATACTTTCGATGAAAGTAAATTATAGGAAAAAAATTAACTGTTTTAAAAAGAACTTGATTATGTTTTATGAT
TTCAGGCAAGTATTCATTTTTAACTTGCTACCTACTTTTAAATAAATGTTTACATTTCTAAATAATGAAATGTGTTGAATGTTCTCGTGA
AGATTTGTATACAAAGGAAAAATTTGTGCTAAACTGGAATTAAATGAAATGGTAATATTGCTTAACTTAAATTTTACAAATAATAGAACG
TCTGTCTCACCAGATAAAGCTGTCTGCAAACATGCATCAAAAGAAACACTGATGTAACTGAAAGTATATTAAATATTTACAATTTTCATT

>12987_12987_2_CAPZA2-RARRES1_CAPZA2_chr7_116502704_ENST00000458284_RARRES1_chr3_158415759_ENST00000237696_length(amino acids)=96AA_BP=26
MPPPPPRFVARRKMADLEEQLSDEEKKTNDDTIDFDYTVLLHELSTQEIIPCRIHLVWYPGKPLKVKYHCQELQTPEEASGTEEGSAVVP

--------------------------------------------------------------
>12987_12987_3_CAPZA2-RARRES1_CAPZA2_chr7_116502704_ENST00000490693_RARRES1_chr3_158415759_ENST00000237696_length(transcript)=1050nt_BP=51nt
GCCAGAAGGAAGATGGCGGATCTGGAGGAGCAGTTGTCTGATGAAGAGAAGAAAACTAATGATGATACAATTGATTTTGATTATACTGTT
CTACTTCATGAATTATCAACACAGGAAATAATTCCCTGTCGCATTCACTTGGTCTGGTACCCTGGCAAACCTCTTAAAGTGAAGTACCAC
TGTCAAGAGCTACAGACACCAGAAGAAGCCTCCGGAACTGAAGAAGGATCAGCTGTAGTACCAACAGAGCTTAGTAATTTCTAAAAAGAA
AAAATGATCTTTTTCCGACTTCTAAACAAGTGACTATACTAGCATAAATCATTCTTCTAGTAAAACAGCTAAGGTATAGACATTCTAATA
ATTTGGGAAAACCTATGATTACAAGTAAAAACTCAGAAATGCAAAGATGTTGGTTTTTTGTTTCTCAGTCTGCTTTAGCTTTTAACTCTG
GAAGCGCATGCACACTGAACTCTGCTCAGTGCTAAACAGTCACCAGCAGGTTCCTCAGGGTTTCAGCCCTAAAATGTAAAACCTGGATAA
TCAGTGTATGTTGCACCAGAATCAGCATTTTTTTTTTAACTGCAAAAAATGATGGTCTCATCTCTGAATTTATATTTCTCATTCTTTTGA
ACATACTATAGCTAATATATTTTATGTTGCTAAATTGCTTCTATCTAGCATGTTAAACAAAGATAATATACTTTCGATGAAAGTAAATTA
TAGGAAAAAAATTAACTGTTTTAAAAAGAACTTGATTATGTTTTATGATTTCAGGCAAGTATTCATTTTTAACTTGCTACCTACTTTTAA
ATAAATGTTTACATTTCTAAATAATGAAATGTGTTGAATGTTCTCGTGAAGATTTGTATACAAAGGAAAAATTTGTGCTAAACTGGAATT
AAATGAAATGGTAATATTGCTTAACTTAAATTTTACAAATAATAGAACGTCTGTCTCACCAGATAAAGCTGTCTGCAAACATGCATCAAA

>12987_12987_3_CAPZA2-RARRES1_CAPZA2_chr7_116502704_ENST00000490693_RARRES1_chr3_158415759_ENST00000237696_length(amino acids)=83AA_BP=13

--------------------------------------------------------------

Top

Fusion Gene PPI Analysis for CAPZA2-RARRES1


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-RARRES1


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-RARRES1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneC0023893Liver Cirrhosis, Experimental1CTD_human
TgeneC0024623Malignant neoplasm of stomach1CTD_human
TgeneC0038356Stomach Neoplasms1CTD_human
TgeneC1708349Hereditary Diffuse Gastric Cancer1CTD_human