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Center for Computational Systems Medicine
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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:CAPZB-C2orf88 (FusionGDB2 ID:HG832TG84281)

Fusion Gene Summary for CAPZB-C2orf88

check button Fusion gene summary
Fusion gene informationFusion gene name: CAPZB-C2orf88
Fusion gene ID: hg832tg84281
HgeneTgene
Gene symbol

CAPZB

C2orf88

Gene ID

832

84281

Gene namecapping actin protein of muscle Z-line subunit betachromosome 2 open reading frame 88
SynonymsCAPB|CAPPB|CAPZsmAKAP
Cytomap('CAPZB')('C2orf88')

1p36.13

2q32.2

Type of geneprotein-codingprotein-coding
DescriptionF-actin-capping protein subunit betacapZ betacapping actin protein of muscle Z-line beta subunitcapping protein (actin filament) muscle Z-line, betaepididymis secretory sperm binding proteinsmall membrane A-kinase anchor proteinsmall A-kinase anchoring proteinsmall membrane AKAP
Modification date2020032020200313
UniProtAcc

P47756

Q9BSF0

Ensembl transtripts involved in fusion geneENST00000264202, ENST00000375142, 
ENST00000401084, ENST00000264203, 
ENST00000482808, ENST00000375144, 
ENST00000433834, 
Fusion gene scores* DoF score20 X 22 X 11=48404 X 4 X 3=48
# samples 294
** MAII scorelog2(29/4840*10)=-4.06088224214702
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(4/48*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CAPZB [Title/Abstract] AND C2orf88 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCAPZB(19811930)-C2orf88(190944680), # 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 button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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
ChimerDB4BRCATCGA-AR-A0TW-01ACAPZBchr1

19811930

-C2orf88chr2

190944680

+


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Fusion Gene ORF analysis for CAPZB-C2orf88

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
5CDS-intronENST00000264202ENST00000340623CAPZBchr1

19811930

-C2orf88chr2

190944680

+
5CDS-intronENST00000264202ENST00000396974CAPZBchr1

19811930

-C2orf88chr2

190944680

+
5CDS-intronENST00000264202ENST00000409870CAPZBchr1

19811930

-C2orf88chr2

190944680

+
5CDS-intronENST00000264202ENST00000443551CAPZBchr1

19811930

-C2orf88chr2

190944680

+
5CDS-intronENST00000264202ENST00000478197CAPZBchr1

19811930

-C2orf88chr2

190944680

+
5CDS-intronENST00000375142ENST00000340623CAPZBchr1

19811930

-C2orf88chr2

190944680

+
5CDS-intronENST00000375142ENST00000396974CAPZBchr1

19811930

-C2orf88chr2

190944680

+
5CDS-intronENST00000375142ENST00000409870CAPZBchr1

19811930

-C2orf88chr2

190944680

+
5CDS-intronENST00000375142ENST00000443551CAPZBchr1

19811930

-C2orf88chr2

190944680

+
5CDS-intronENST00000375142ENST00000478197CAPZBchr1

19811930

-C2orf88chr2

190944680

+
5CDS-intronENST00000401084ENST00000340623CAPZBchr1

19811930

-C2orf88chr2

190944680

+
5CDS-intronENST00000401084ENST00000396974CAPZBchr1

19811930

-C2orf88chr2

190944680

+
5CDS-intronENST00000401084ENST00000409870CAPZBchr1

19811930

-C2orf88chr2

190944680

+
5CDS-intronENST00000401084ENST00000443551CAPZBchr1

19811930

-C2orf88chr2

190944680

+
5CDS-intronENST00000401084ENST00000478197CAPZBchr1

19811930

-C2orf88chr2

190944680

+
5UTR-intronENST00000264203ENST00000340623CAPZBchr1

19811930

-C2orf88chr2

190944680

+
5UTR-intronENST00000264203ENST00000396974CAPZBchr1

19811930

-C2orf88chr2

190944680

+
5UTR-intronENST00000264203ENST00000409870CAPZBchr1

19811930

-C2orf88chr2

190944680

+
5UTR-intronENST00000264203ENST00000443551CAPZBchr1

19811930

-C2orf88chr2

190944680

+
5UTR-intronENST00000264203ENST00000478197CAPZBchr1

19811930

-C2orf88chr2

190944680

+
5UTR-intronENST00000482808ENST00000340623CAPZBchr1

19811930

-C2orf88chr2

190944680

+
5UTR-intronENST00000482808ENST00000396974CAPZBchr1

19811930

-C2orf88chr2

190944680

+
5UTR-intronENST00000482808ENST00000409870CAPZBchr1

19811930

-C2orf88chr2

190944680

+
5UTR-intronENST00000482808ENST00000443551CAPZBchr1

19811930

-C2orf88chr2

190944680

+
5UTR-intronENST00000482808ENST00000478197CAPZBchr1

19811930

-C2orf88chr2

190944680

+
intron-intronENST00000375144ENST00000340623CAPZBchr1

19811930

-C2orf88chr2

190944680

+
intron-intronENST00000375144ENST00000396974CAPZBchr1

19811930

-C2orf88chr2

190944680

+
intron-intronENST00000375144ENST00000409870CAPZBchr1

19811930

-C2orf88chr2

190944680

+
intron-intronENST00000375144ENST00000443551CAPZBchr1

19811930

-C2orf88chr2

190944680

+
intron-intronENST00000375144ENST00000478197CAPZBchr1

19811930

-C2orf88chr2

190944680

+
intron-intronENST00000433834ENST00000340623CAPZBchr1

19811930

-C2orf88chr2

190944680

+
intron-intronENST00000433834ENST00000396974CAPZBchr1

19811930

-C2orf88chr2

190944680

+
intron-intronENST00000433834ENST00000409870CAPZBchr1

19811930

-C2orf88chr2

190944680

+
intron-intronENST00000433834ENST00000443551CAPZBchr1

19811930

-C2orf88chr2

190944680

+
intron-intronENST00000433834ENST00000478197CAPZBchr1

19811930

-C2orf88chr2

190944680

+

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 CAPZB-C2orf88


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 CAPZB-C2orf88


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/:19811930/:190944680)
- 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
CAPZB

P47756

C2orf88

Q9BSF0

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. Plays a role in the regulation of cell morphology and cytoskeletal organization. {ECO:0000269|PubMed:21834987}.FUNCTION: Binds to type I regulatory subunits of protein kinase A (PKA-RI) and may anchor/target them to the plasma membrane. {ECO:0000269|PubMed:23115245}.

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 CAPZB-C2orf88


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 CAPZB-C2orf88


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 CAPZB-C2orf88


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 CAPZB-C2orf88


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCAPZBC0007097Carcinoma1CTD_human
HgeneCAPZBC0024667Animal Mammary Neoplasms1CTD_human
HgeneCAPZBC0024668Mammary Neoplasms, Experimental1CTD_human
HgeneCAPZBC0205696Anaplastic carcinoma1CTD_human
HgeneCAPZBC0205697Carcinoma, Spindle-Cell1CTD_human
HgeneCAPZBC0205698Undifferentiated carcinoma1CTD_human
HgeneCAPZBC0205699Carcinomatosis1CTD_human
HgeneCAPZBC0948089Acute Coronary Syndrome1CTD_human
HgeneCAPZBC1257925Mammary Carcinoma, Animal1CTD_human
TgeneC0087031Juvenile-Onset Still Disease1CTD_human
TgeneC3495559Juvenile arthritis1CTD_human
TgeneC3714758Juvenile psoriatic arthritis1CTD_human
TgeneC4552091Polyarthritis, Juvenile, Rheumatoid Factor Negative1CTD_human
TgeneC4704862Polyarthritis, Juvenile, Rheumatoid Factor Positive1CTD_human