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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-APITD1 (FusionGDB2 ID:HG832TG100526739)

Fusion Gene Summary for CAPZB-APITD1

check button Fusion gene summary
Fusion gene informationFusion gene name: CAPZB-APITD1
Fusion gene ID: hg832tg100526739
HgeneTgene
Gene symbol

CAPZB

APITD1

Gene ID

832

100526739

Gene namecapping actin protein of muscle Z-line subunit betaCENPS-CORT readthrough
SynonymsCAPB|CAPPB|CAPZAPITD1|APITD1-CORT|CENP-S|CENPS|FAAP16|MHF1
Cytomap('CAPZB')('APITD1')

1p36.13

1p36.22

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 proteinAPITD1-CORT proteinAPITD1-CORT readthroughApoptosis-inducing TAF9-like domain-containing protein 1Centromere protein SFANCM-associated histone fold protein 1FANCM-interacting histone fold protein 1Fanconi anemia-associated polypeptide of 16 kDa
Modification date2020032020200313
UniProtAcc

P47756

.
Ensembl transtripts involved in fusion geneENST00000264202, ENST00000375142, 
ENST00000401084, ENST00000264203, 
ENST00000482808, ENST00000375144, 
ENST00000433834, 
Fusion gene scores* DoF score20 X 22 X 11=48403 X 4 X 3=36
# samples 295
** MAII scorelog2(29/4840*10)=-4.06088224214702
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(5/36*10)=0.473931188332412
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: CAPZB [Title/Abstract] AND APITD1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCAPZB(19811930)-APITD1(10500404), # 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


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
ChimerDB4UCECTCGA-B5-A0JN-01ACAPZBchr1

19811930

-APITD1chr1

10500404

+


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Fusion Gene ORF analysis for CAPZB-APITD1

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-3UTRENST00000264202ENST00000462462CAPZBchr1

19811930

-APITD1chr1

10500404

+
5CDS-3UTRENST00000375142ENST00000462462CAPZBchr1

19811930

-APITD1chr1

10500404

+
5CDS-3UTRENST00000401084ENST00000462462CAPZBchr1

19811930

-APITD1chr1

10500404

+
5CDS-intronENST00000264202ENST00000309048CAPZBchr1

19811930

-APITD1chr1

10500404

+
5CDS-intronENST00000264202ENST00000602296CAPZBchr1

19811930

-APITD1chr1

10500404

+
5CDS-intronENST00000264202ENST00000602787CAPZBchr1

19811930

-APITD1chr1

10500404

+
5CDS-intronENST00000375142ENST00000309048CAPZBchr1

19811930

-APITD1chr1

10500404

+
5CDS-intronENST00000375142ENST00000602296CAPZBchr1

19811930

-APITD1chr1

10500404

+
5CDS-intronENST00000375142ENST00000602787CAPZBchr1

19811930

-APITD1chr1

10500404

+
5CDS-intronENST00000401084ENST00000309048CAPZBchr1

19811930

-APITD1chr1

10500404

+
5CDS-intronENST00000401084ENST00000602296CAPZBchr1

19811930

-APITD1chr1

10500404

+
5CDS-intronENST00000401084ENST00000602787CAPZBchr1

19811930

-APITD1chr1

10500404

+
5UTR-3UTRENST00000264203ENST00000462462CAPZBchr1

19811930

-APITD1chr1

10500404

+
5UTR-3UTRENST00000482808ENST00000462462CAPZBchr1

19811930

-APITD1chr1

10500404

+
5UTR-intronENST00000264203ENST00000309048CAPZBchr1

19811930

-APITD1chr1

10500404

+
5UTR-intronENST00000264203ENST00000602296CAPZBchr1

19811930

-APITD1chr1

10500404

+
5UTR-intronENST00000264203ENST00000602787CAPZBchr1

19811930

-APITD1chr1

10500404

+
5UTR-intronENST00000482808ENST00000309048CAPZBchr1

19811930

-APITD1chr1

10500404

+
5UTR-intronENST00000482808ENST00000602296CAPZBchr1

19811930

-APITD1chr1

10500404

+
5UTR-intronENST00000482808ENST00000602787CAPZBchr1

19811930

-APITD1chr1

10500404

+
intron-3UTRENST00000375144ENST00000462462CAPZBchr1

19811930

-APITD1chr1

10500404

+
intron-3UTRENST00000433834ENST00000462462CAPZBchr1

19811930

-APITD1chr1

10500404

+
intron-intronENST00000375144ENST00000309048CAPZBchr1

19811930

-APITD1chr1

10500404

+
intron-intronENST00000375144ENST00000602296CAPZBchr1

19811930

-APITD1chr1

10500404

+
intron-intronENST00000375144ENST00000602787CAPZBchr1

19811930

-APITD1chr1

10500404

+
intron-intronENST00000433834ENST00000309048CAPZBchr1

19811930

-APITD1chr1

10500404

+
intron-intronENST00000433834ENST00000602296CAPZBchr1

19811930

-APITD1chr1

10500404

+
intron-intronENST00000433834ENST00000602787CAPZBchr1

19811930

-APITD1chr1

10500404

+

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-APITD1


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)
CAPZBchr119811929-APITD1chr110500403+6.90E-111
CAPZBchr119811929-APITD1chr110500403+6.90E-111


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 CAPZB-APITD1


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/:10500404)
- 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

.
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: 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 CAPZB-APITD1


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-APITD1


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-APITD1


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-APITD1


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