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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:C3-CAPZB (FusionGDB2 ID:HG718TG832)

Fusion Gene Summary for C3-CAPZB

check button Fusion gene summary
Fusion gene informationFusion gene name: C3-CAPZB
Fusion gene ID: hg718tg832
HgeneTgene
Gene symbol

C3

CAPZB

Gene ID

718

832

Gene namecomplement C3capping actin protein of muscle Z-line subunit beta
SynonymsAHUS5|ARMD9|ASP|C3a|C3b|CPAMD1|HEL-S-62pCAPB|CAPPB|CAPZ
Cytomap('C3')('CAPZB')

19p13.3

1p36.13

Type of geneprotein-codingprotein-coding
Descriptioncomplement C3C3 and PZP-like alpha-2-macroglobulin domain-containing protein 1C3a anaphylatoxinacylation-stimulating protein cleavage productcomplement component 3complement component C3acomplement component C3bepididymis secretory sperm binding prF-actin-capping protein subunit betacapZ betacapping actin protein of muscle Z-line beta subunitcapping protein (actin filament) muscle Z-line, betaepididymis secretory sperm binding protein
Modification date2020032720200320
UniProtAcc.

P47756

Ensembl transtripts involved in fusion geneENST00000245907, ENST00000599668, 
Fusion gene scores* DoF score28 X 24 X 14=940823 X 15 X 8=2760
# samples 3327
** MAII scorelog2(33/9408*10)=-4.83335013059055
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(27/2760*10)=-3.3536369546147
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: C3 [Title/Abstract] AND CAPZB [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointC3(6719229)-CAPZB(19665911), # 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
HgeneC3

GO:0001934

positive regulation of protein phosphorylation

15833747

HgeneC3

GO:0010575

positive regulation of vascular endothelial growth factor production

16452172

HgeneC3

GO:0010828

positive regulation of glucose transmembrane transport

9059512|15833747

HgeneC3

GO:0010866

regulation of triglyceride biosynthetic process

10432298

HgeneC3

GO:0010884

positive regulation of lipid storage

9555951

HgeneC3

GO:0045745

positive regulation of G protein-coupled receptor signaling pathway

15833747



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
ChimerDB4STADTCGA-FP-8209-01AC3chr19

6719229

-CAPZBchr1

19665911

-


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Fusion Gene ORF analysis for C3-CAPZB

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
intron-3UTRENST00000245907ENST00000264203C3chr19

6719229

-CAPZBchr1

19665911

-
intron-3UTRENST00000245907ENST00000375142C3chr19

6719229

-CAPZBchr1

19665911

-
intron-3UTRENST00000245907ENST00000375144C3chr19

6719229

-CAPZBchr1

19665911

-
intron-3UTRENST00000245907ENST00000401084C3chr19

6719229

-CAPZBchr1

19665911

-
intron-3UTRENST00000245907ENST00000433834C3chr19

6719229

-CAPZBchr1

19665911

-
intron-3UTRENST00000599668ENST00000264203C3chr19

6719229

-CAPZBchr1

19665911

-
intron-3UTRENST00000599668ENST00000375142C3chr19

6719229

-CAPZBchr1

19665911

-
intron-3UTRENST00000599668ENST00000375144C3chr19

6719229

-CAPZBchr1

19665911

-
intron-3UTRENST00000599668ENST00000401084C3chr19

6719229

-CAPZBchr1

19665911

-
intron-3UTRENST00000599668ENST00000433834C3chr19

6719229

-CAPZBchr1

19665911

-
intron-intronENST00000245907ENST00000264202C3chr19

6719229

-CAPZBchr1

19665911

-
intron-intronENST00000245907ENST00000482808C3chr19

6719229

-CAPZBchr1

19665911

-
intron-intronENST00000599668ENST00000264202C3chr19

6719229

-CAPZBchr1

19665911

-
intron-intronENST00000599668ENST00000482808C3chr19

6719229

-CAPZBchr1

19665911

-

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 C3-CAPZB


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 C3-CAPZB


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/:6719229/:19665911)
- 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: 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}.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}.

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 C3-CAPZB


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 C3-CAPZB


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 C3-CAPZB


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 C3-CAPZB


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneC3C3151071COMPLEMENT COMPONENT 3 DEFICIENCY, AUTOSOMAL RECESSIVE5CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneC3C0242383Age related macular degeneration4CTD_human;GENOMICS_ENGLAND
HgeneC3C2752037HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 54GENOMICS_ENGLAND;UNIPROT
HgeneC3C1969651Macular Degeneration, Age-Related, 92CTD_human;UNIPROT
HgeneC3C0003257Antibody Deficiency Syndrome1CTD_human
HgeneC3C0007787Transient Ischemic Attack1CTD_human
HgeneC3C0011860Diabetes Mellitus, Non-Insulin-Dependent1CTD_human
HgeneC3C0013221Drug toxicity1CTD_human
HgeneC3C0017665Membranous glomerulonephritis1CTD_human
HgeneC3C0019061Hemolytic-Uremic Syndrome1GENOMICS_ENGLAND
HgeneC3C0019193Hepatitis, Toxic1CTD_human
HgeneC3C0021051Immunologic Deficiency Syndromes1CTD_human
HgeneC3C0021655Insulin Resistance1CTD_human
HgeneC3C0022660Kidney Failure, Acute1CTD_human
HgeneC3C0030524Paratuberculosis1CTD_human
HgeneC3C0030807Pemphigus1CTD_human
HgeneC3C0030809Pemphigus Vulgaris1CTD_human
HgeneC3C0034152Henoch-Schoenlein Purpura1CTD_human
HgeneC3C0041755Adverse reaction to drug1CTD_human
HgeneC3C0042386Vasculitis, Hemorrhagic1CTD_human
HgeneC3C0086445Idiopathic Membranous Glomerulonephritis1CTD_human
HgeneC3C0086922Rheumatoid Purpura1CTD_human
HgeneC3C0238281Middle Cerebral Artery Syndrome1CTD_human
HgeneC3C0242461Purpura, Nonthrombocytopenic1CTD_human
HgeneC3C0263313Pemphigus Foliaceus1CTD_human
HgeneC3C0272242Complement deficiency disease1GENOMICS_ENGLAND
HgeneC3C0376362Purpura Hemorrhagica1CTD_human
HgeneC3C0472381Posterior Circulation Transient Ischemic Attack1CTD_human
HgeneC3C0740376Middle Cerebral Artery Thrombosis1CTD_human
HgeneC3C0740391Middle Cerebral Artery Occlusion1CTD_human
HgeneC3C0740392Infarction, Middle Cerebral Artery1CTD_human
HgeneC3C0751019Carotid Circulation Transient Ischemic Attack1CTD_human
HgeneC3C0751020Transient Ischemic Attack, Vertebrobasilar Circulation1CTD_human
HgeneC3C0751021Crescendo Transient Ischemic Attacks1CTD_human
HgeneC3C0751022Brain Stem Ischemia, Transient1CTD_human
HgeneC3C0751845Middle Cerebral Artery Embolus1CTD_human
HgeneC3C0751846Left Middle Cerebral Artery Infarction1CTD_human
HgeneC3C0751847Embolic Infarction, Middle Cerebral Artery1CTD_human
HgeneC3C0751848Thrombotic Infarction, Middle Cerebral Artery1CTD_human
HgeneC3C0751849Right Middle Cerebral Artery Infarction1CTD_human
HgeneC3C0860207Drug-Induced Liver Disease1CTD_human
HgeneC3C0917805Transient Cerebral Ischemia1CTD_human
HgeneC3C0920563Insulin Sensitivity1CTD_human
HgeneC3C1262760Hepatitis, Drug-Induced1CTD_human
HgeneC3C1332655Complement component 3 deficiency1GENOMICS_ENGLAND
HgeneC3C1527335Transient Ischemic Attack, Anterior Circulation1CTD_human
HgeneC3C1565662Acute Kidney Insufficiency1CTD_human
HgeneC3C1704378Heymann Nephritis1CTD_human
HgeneC3C2609414Acute kidney injury1CTD_human
HgeneC3C2931788Atypical Hemolytic Uremic Syndrome1CTD_human;GENOMICS_ENGLAND
HgeneC3C3658290Drug-Induced Acute Liver Injury1CTD_human
HgeneC3C4087273C3 glomerulopathy1GENOMICS_ENGLAND
HgeneC3C4277682Chemical and Drug Induced Liver Injury1CTD_human
HgeneC3C4279912Chemically-Induced Liver Toxicity1CTD_human
TgeneC0007097Carcinoma1CTD_human
TgeneC0024667Animal Mammary Neoplasms1CTD_human
TgeneC0024668Mammary Neoplasms, Experimental1CTD_human
TgeneC0205696Anaplastic carcinoma1CTD_human
TgeneC0205697Carcinoma, Spindle-Cell1CTD_human
TgeneC0205698Undifferentiated carcinoma1CTD_human
TgeneC0205699Carcinomatosis1CTD_human
TgeneC0948089Acute Coronary Syndrome1CTD_human
TgeneC1257925Mammary Carcinoma, Animal1CTD_human