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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:C1QC-CACNB3 (FusionGDB2 ID:11424)

Fusion Gene Summary for C1QC-CACNB3

check button Fusion gene summary
Fusion gene informationFusion gene name: C1QC-CACNB3
Fusion gene ID: 11424
HgeneTgene
Gene symbol

C1QC

CACNB3

Gene ID

714

784

Gene namecomplement C1q C chaincalcium voltage-gated channel auxiliary subunit beta 3
SynonymsC1Q-C|C1QGCAB3|CACNLB3
Cytomap

1p36.12

12q13.12

Type of geneprotein-codingprotein-coding
Descriptioncomplement C1q subcomponent subunit Ccomplement component 1, q subcomponent, C chaincomplement component 1, q subcomponent, gamma polypeptidevoltage-dependent L-type calcium channel subunit beta-3calcium channel, voltage-dependent, beta 3 subunit
Modification date2020031320200313
UniProtAcc

P02747

P54284

Ensembl transtripts involved in fusion geneENST00000374639, ENST00000374640, 
ENST00000374637, 		ENST00000301050, 
ENST00000536187, ENST00000540990, 
ENST00000547230, ENST00000547392, 
ENST00000550168, 
Fusion gene scores* DoF score4 X 5 X 4=802 X 2 X 3=12
# samples 53
** MAII scorelog2(5/80*10)=-0.678071905112638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(3/12*10)=1.32192809488736
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: C1QC [Title/Abstract] AND CACNB3 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointC1QC(22974547)-CACNB3(49218616), # samples:1
C1QC(22974548)-CACNB3(49218616), # 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
HgeneC1QC

GO:0030853

negative regulation of granulocyte differentiation

10961870

HgeneC1QC

GO:0045650

negative regulation of macrophage differentiation

10961870

TgeneCACNB3

GO:0006816

calcium ion transport

11160515


check buttonFusion gene breakpoints across C1QC (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across CACNB3 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

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
ChimerDB4SARCTCGA-3B-A9HZ-01AC1QCchr1

22974547

+CACNB3chr12

49218616

+
ChimerDB4TGCTTCGA-ZM-AA05C1QCchr1

22974548

+CACNB3chr12

49218616

+


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Fusion Gene ORF analysis for C1QC-CACNB3

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-intronENST00000374639ENST00000301050C1QCchr1

22974547

+CACNB3chr12

49218616

+
3UTR-intronENST00000374639ENST00000301050C1QCchr1

22974548

+CACNB3chr12

49218616

+
3UTR-intronENST00000374639ENST00000536187C1QCchr1

22974547

+CACNB3chr12

49218616

+
3UTR-intronENST00000374639ENST00000536187C1QCchr1

22974548

+CACNB3chr12

49218616

+
3UTR-intronENST00000374639ENST00000540990C1QCchr1

22974547

+CACNB3chr12

49218616

+
3UTR-intronENST00000374639ENST00000540990C1QCchr1

22974548

+CACNB3chr12

49218616

+
3UTR-intronENST00000374639ENST00000547230C1QCchr1

22974547

+CACNB3chr12

49218616

+
3UTR-intronENST00000374639ENST00000547230C1QCchr1

22974548

+CACNB3chr12

49218616

+
3UTR-intronENST00000374639ENST00000547392C1QCchr1

22974547

+CACNB3chr12

49218616

+
3UTR-intronENST00000374639ENST00000547392C1QCchr1

22974548

+CACNB3chr12

49218616

+
3UTR-intronENST00000374639ENST00000550168C1QCchr1

22974547

+CACNB3chr12

49218616

+
3UTR-intronENST00000374639ENST00000550168C1QCchr1

22974548

+CACNB3chr12

49218616

+
3UTR-intronENST00000374640ENST00000301050C1QCchr1

22974547

+CACNB3chr12

49218616

+
3UTR-intronENST00000374640ENST00000301050C1QCchr1

22974548

+CACNB3chr12

49218616

+
3UTR-intronENST00000374640ENST00000536187C1QCchr1

22974547

+CACNB3chr12

49218616

+
3UTR-intronENST00000374640ENST00000536187C1QCchr1

22974548

+CACNB3chr12

49218616

+
3UTR-intronENST00000374640ENST00000540990C1QCchr1

22974547

+CACNB3chr12

49218616

+
3UTR-intronENST00000374640ENST00000540990C1QCchr1

22974548

+CACNB3chr12

49218616

+
3UTR-intronENST00000374640ENST00000547230C1QCchr1

22974547

+CACNB3chr12

49218616

+
3UTR-intronENST00000374640ENST00000547230C1QCchr1

22974548

+CACNB3chr12

49218616

+
3UTR-intronENST00000374640ENST00000547392C1QCchr1

22974547

+CACNB3chr12

49218616

+
3UTR-intronENST00000374640ENST00000547392C1QCchr1

22974548

+CACNB3chr12

49218616

+
3UTR-intronENST00000374640ENST00000550168C1QCchr1

22974547

+CACNB3chr12

49218616

+
3UTR-intronENST00000374640ENST00000550168C1QCchr1

22974548

+CACNB3chr12

49218616

+
intron-intronENST00000374637ENST00000301050C1QCchr1

22974547

+CACNB3chr12

49218616

+
intron-intronENST00000374637ENST00000301050C1QCchr1

22974548

+CACNB3chr12

49218616

+
intron-intronENST00000374637ENST00000536187C1QCchr1

22974547

+CACNB3chr12

49218616

+
intron-intronENST00000374637ENST00000536187C1QCchr1

22974548

+CACNB3chr12

49218616

+
intron-intronENST00000374637ENST00000540990C1QCchr1

22974547

+CACNB3chr12

49218616

+
intron-intronENST00000374637ENST00000540990C1QCchr1

22974548

+CACNB3chr12

49218616

+
intron-intronENST00000374637ENST00000547230C1QCchr1

22974547

+CACNB3chr12

49218616

+
intron-intronENST00000374637ENST00000547230C1QCchr1

22974548

+CACNB3chr12

49218616

+
intron-intronENST00000374637ENST00000547392C1QCchr1

22974547

+CACNB3chr12

49218616

+
intron-intronENST00000374637ENST00000547392C1QCchr1

22974548

+CACNB3chr12

49218616

+
intron-intronENST00000374637ENST00000550168C1QCchr1

22974547

+CACNB3chr12

49218616

+
intron-intronENST00000374637ENST00000550168C1QCchr1

22974548

+CACNB3chr12

49218616

+

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 C1QC-CACNB3


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.

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.

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Fusion Protein Features for C1QC-CACNB3


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/:22974547/:49218616)
- 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
C1QC

P02747

CACNB3

P54284

FUNCTION: C1q associates with the proenzymes C1r and C1s to yield C1, the first component of the serum complement system. The collagen-like regions of C1q interact with the Ca(2+)-dependent C1r(2)C1s(2) proenzyme complex, and efficient activation of C1 takes place on interaction of the globular heads of C1q with the Fc regions of IgG or IgM antibody present in immune complexes.FUNCTION: Regulatory subunit of the voltage-gated calcium channel that gives rise to L-type calcium currents (PubMed:8119293). Increases CACNA1B peak calcium current and shifts the voltage dependencies of channel activation and inactivation (By similarity). Increases CACNA1C peak calcium current and shifts the voltage dependencies of channel activation and inactivation (By similarity). {ECO:0000250|UniProtKB:P54287, ECO:0000250|UniProtKB:Q9MZL3, ECO:0000269|PubMed:8119293}.

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 C1QC-CACNB3


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 C1QC-CACNB3


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 C1QC-CACNB3


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 C1QC-CACNB3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource