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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:C4B-PLCB1 (FusionGDB2 ID:HG721TG23236)

Fusion Gene Summary for C4B-PLCB1

check button Fusion gene summary
Fusion gene informationFusion gene name: C4B-PLCB1
Fusion gene ID: hg721tg23236
HgeneTgene
Gene symbol

C4B

PLCB1

Gene ID

721

23236

Gene namecomplement C4B (Chido blood group)phospholipase C beta 1
SynonymsC4B1|C4B12|C4B2|C4B3|C4B5|C4BD|C4B_2|C4F|CH|CO4|CPAMD3EIEE12|PI-PLC|PLC-154|PLC-I|PLC-beta-1|PLC154|PLCB1A|PLCB1B
Cytomap('C4B')('PLCB1')

6p21.33

20p12.3

Type of geneprotein-codingprotein-coding
Descriptioncomplement C4-BC3 and PZP-like alpha-2-macroglobulin domain-containing protein 3Chido form of C4basic complement C4complement C4B1acomplement component 4B (Chido blood group)1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-11-phosphatidyl-D-myo-inositol-4,5-bisphosphateinositoltrisphosphohydrolasemonophosphatidylinositol phosphodiesterasephosphoinositidase Cphosphoinositide phospholipase Cphospholipase C,
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000435363, ENST00000425700, 
ENST00000375177, ENST00000411583, 
ENST00000445788, ENST00000449788, 
ENST00000485543, ENST00000487226, 
ENST00000488817, ENST00000494210, 
ENST00000546399, ENST00000548301, 
ENST00000548530, ENST00000550398, 
Fusion gene scores* DoF score9 X 7 X 6=37813 X 13 X 5=845
# samples 814
** MAII scorelog2(8/378*10)=-2.24031432933371
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(14/845*10)=-2.59352451422458
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: C4B [Title/Abstract] AND PLCB1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointC4B(32003180)-PLCB1(8210696), # samples:3
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
HgeneC4B

GO:0032490

detection of molecule of bacterial origin

22333221

TgenePLCB1

GO:0035722

interleukin-12-mediated signaling pathway

11743656

TgenePLCB1

GO:0035723

interleukin-15-mediated signaling pathway

11743656

TgenePLCB1

GO:0046330

positive regulation of JNK cascade

9500449

TgenePLCB1

GO:0070498

interleukin-1-mediated signaling pathway

8872139



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
ChiTaRS5.0N/AAV686060C4Bchr6

32003180

+PLCB1chr20

8210696

+
ChiTaRS5.0N/AAV686064C4Bchr6

32003180

+PLCB1chr20

8210696

+
ChiTaRS5.0N/AAV698545C4Bchr6

32003180

+PLCB1chr20

8210696

+


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Fusion Gene ORF analysis for C4B-PLCB1

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-intronENST00000435363ENST00000338037C4Bchr6

32003180

+PLCB1chr20

8210696

+
3UTR-intronENST00000435363ENST00000378637C4Bchr6

32003180

+PLCB1chr20

8210696

+
3UTR-intronENST00000435363ENST00000378641C4Bchr6

32003180

+PLCB1chr20

8210696

+
3UTR-intronENST00000435363ENST00000494924C4Bchr6

32003180

+PLCB1chr20

8210696

+
5CDS-intronENST00000425700ENST00000338037C4Bchr6

32003180

+PLCB1chr20

8210696

+
5CDS-intronENST00000425700ENST00000378637C4Bchr6

32003180

+PLCB1chr20

8210696

+
5CDS-intronENST00000425700ENST00000378641C4Bchr6

32003180

+PLCB1chr20

8210696

+
5CDS-intronENST00000425700ENST00000494924C4Bchr6

32003180

+PLCB1chr20

8210696

+
intron-intronENST00000375177ENST00000338037C4Bchr6

32003180

+PLCB1chr20

8210696

+
intron-intronENST00000375177ENST00000378637C4Bchr6

32003180

+PLCB1chr20

8210696

+
intron-intronENST00000375177ENST00000378641C4Bchr6

32003180

+PLCB1chr20

8210696

+
intron-intronENST00000375177ENST00000494924C4Bchr6

32003180

+PLCB1chr20

8210696

+
intron-intronENST00000411583ENST00000338037C4Bchr6

32003180

+PLCB1chr20

8210696

+
intron-intronENST00000411583ENST00000378637C4Bchr6

32003180

+PLCB1chr20

8210696

+
intron-intronENST00000411583ENST00000378641C4Bchr6

32003180

+PLCB1chr20

8210696

+
intron-intronENST00000411583ENST00000494924C4Bchr6

32003180

+PLCB1chr20

8210696

+
intron-intronENST00000445788ENST00000338037C4Bchr6

32003180

+PLCB1chr20

8210696

+
intron-intronENST00000445788ENST00000378637C4Bchr6

32003180

+PLCB1chr20

8210696

+
intron-intronENST00000445788ENST00000378641C4Bchr6

32003180

+PLCB1chr20

8210696

+
intron-intronENST00000445788ENST00000494924C4Bchr6

32003180

+PLCB1chr20

8210696

+
intron-intronENST00000449788ENST00000338037C4Bchr6

32003180

+PLCB1chr20

8210696

+
intron-intronENST00000449788ENST00000378637C4Bchr6

32003180

+PLCB1chr20

8210696

+
intron-intronENST00000449788ENST00000378641C4Bchr6

32003180

+PLCB1chr20

8210696

+
intron-intronENST00000449788ENST00000494924C4Bchr6

32003180

+PLCB1chr20

8210696

+
intron-intronENST00000485543ENST00000338037C4Bchr6

32003180

+PLCB1chr20

8210696

+
intron-intronENST00000485543ENST00000378637C4Bchr6

32003180

+PLCB1chr20

8210696

+
intron-intronENST00000485543ENST00000378641C4Bchr6

32003180

+PLCB1chr20

8210696

+
intron-intronENST00000485543ENST00000494924C4Bchr6

32003180

+PLCB1chr20

8210696

+
intron-intronENST00000487226ENST00000338037C4Bchr6

32003180

+PLCB1chr20

8210696

+
intron-intronENST00000487226ENST00000378637C4Bchr6

32003180

+PLCB1chr20

8210696

+
intron-intronENST00000487226ENST00000378641C4Bchr6

32003180

+PLCB1chr20

8210696

+
intron-intronENST00000487226ENST00000494924C4Bchr6

32003180

+PLCB1chr20

8210696

+
intron-intronENST00000488817ENST00000338037C4Bchr6

32003180

+PLCB1chr20

8210696

+
intron-intronENST00000488817ENST00000378637C4Bchr6

32003180

+PLCB1chr20

8210696

+
intron-intronENST00000488817ENST00000378641C4Bchr6

32003180

+PLCB1chr20

8210696

+
intron-intronENST00000488817ENST00000494924C4Bchr6

32003180

+PLCB1chr20

8210696

+
intron-intronENST00000494210ENST00000338037C4Bchr6

32003180

+PLCB1chr20

8210696

+
intron-intronENST00000494210ENST00000378637C4Bchr6

32003180

+PLCB1chr20

8210696

+
intron-intronENST00000494210ENST00000378641C4Bchr6

32003180

+PLCB1chr20

8210696

+
intron-intronENST00000494210ENST00000494924C4Bchr6

32003180

+PLCB1chr20

8210696

+
intron-intronENST00000546399ENST00000338037C4Bchr6

32003180

+PLCB1chr20

8210696

+
intron-intronENST00000546399ENST00000378637C4Bchr6

32003180

+PLCB1chr20

8210696

+
intron-intronENST00000546399ENST00000378641C4Bchr6

32003180

+PLCB1chr20

8210696

+
intron-intronENST00000546399ENST00000494924C4Bchr6

32003180

+PLCB1chr20

8210696

+
intron-intronENST00000548301ENST00000338037C4Bchr6

32003180

+PLCB1chr20

8210696

+
intron-intronENST00000548301ENST00000378637C4Bchr6

32003180

+PLCB1chr20

8210696

+
intron-intronENST00000548301ENST00000378641C4Bchr6

32003180

+PLCB1chr20

8210696

+
intron-intronENST00000548301ENST00000494924C4Bchr6

32003180

+PLCB1chr20

8210696

+
intron-intronENST00000548530ENST00000338037C4Bchr6

32003180

+PLCB1chr20

8210696

+
intron-intronENST00000548530ENST00000378637C4Bchr6

32003180

+PLCB1chr20

8210696

+
intron-intronENST00000548530ENST00000378641C4Bchr6

32003180

+PLCB1chr20

8210696

+
intron-intronENST00000548530ENST00000494924C4Bchr6

32003180

+PLCB1chr20

8210696

+
intron-intronENST00000550398ENST00000338037C4Bchr6

32003180

+PLCB1chr20

8210696

+
intron-intronENST00000550398ENST00000378637C4Bchr6

32003180

+PLCB1chr20

8210696

+
intron-intronENST00000550398ENST00000378641C4Bchr6

32003180

+PLCB1chr20

8210696

+
intron-intronENST00000550398ENST00000494924C4Bchr6

32003180

+PLCB1chr20

8210696

+

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 C4B-PLCB1


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 C4B-PLCB1


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/:32003180/:8210696)
- 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
..
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: 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 C4B-PLCB1


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 C4B-PLCB1


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 C4B-PLCB1


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 C4B-PLCB1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneC4BC0024141Lupus Erythematosus, Systemic7ORPHANET
HgeneC4BC0004352Autistic Disorder2CTD_human
HgeneC4BC0004364Autoimmune Diseases1CTD_human
HgeneC4BC0011609Drug Eruptions1CTD_human
HgeneC4BC0272242Complement deficiency disease1GENOMICS_ENGLAND
HgeneC4BC0406537Morbilliform Drug Reaction1CTD_human
HgeneC4BC3280641Decreased serum complement C4b1CTD_human;GENOMICS_ENGLAND
TgeneC0037769West Syndrome2ORPHANET
TgeneC0005586Bipolar Disorder1PSYGENET
TgeneC0007102Malignant tumor of colon1CTD_human
TgeneC0009375Colonic Neoplasms1CTD_human
TgeneC0030193Pain1CTD_human
TgeneC0036341Schizophrenia1CTD_human
TgeneC0041696Unipolar Depression1PSYGENET
TgeneC0234230Pain, Burning1CTD_human
TgeneC0234238Ache1CTD_human
TgeneC0234254Radiating pain1CTD_human
TgeneC0458257Pain, Splitting1CTD_human
TgeneC0458259Pain, Crushing1CTD_human
TgeneC0751407Pain, Migratory1CTD_human
TgeneC0751408Suffering, Physical1CTD_human
TgeneC1269683Major Depressive Disorder1PSYGENET
TgeneC2713368Hematopoetic Myelodysplasia1CTD_human
TgeneC3150988EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 121CTD_human;GENOMICS_ENGLAND
TgeneC3463824MYELODYSPLASTIC SYNDROME1CTD_human