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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:CCDC176-RGS6 (FusionGDB2 ID:HG80127TG9628)

Fusion Gene Summary for CCDC176-RGS6

check button Fusion gene summary
Fusion gene informationFusion gene name: CCDC176-RGS6
Fusion gene ID: hg80127tg9628
HgeneTgene
Gene symbol

CCDC176

RGS6

Gene ID

80127

9628

Gene namebasal body orientation factor 1regulator of G protein signaling 6
SynonymsC14orf45|CCDC176|FBB10GAP|HA117|S914
Cytomap('BBOF1','C14orf45','CCDC176')('RGS6','RGS6','RGS6')

14q24.3

14q24.2

Type of geneprotein-codingprotein-coding
Descriptionbasal body-orientation factor 1coiled-coil domain containing 176coiled-coil domain-containing protein 176regulator of G-protein signaling 6regulator of G-protein signalling 6
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000489323, ENST00000394009, 
ENST00000492247, ENST00000553773, 
Fusion gene scores* DoF score2 X 2 X 2=811 X 10 X 6=660
# samples 213
** MAII scorelog2(2/8*10)=1.32192809488736log2(13/660*10)=-2.34395440121736
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CCDC176 [Title/Abstract] AND RGS6 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointBBOF1(74486237)-RGS6(72921236), # samples:1
C14orf45(74486237)-RGS6(72921236), # samples:1
CCDC176(74486237)-RGS6(72921236), # samples:1
Anticipated loss of major functional domain due to fusion event.CCDC176-RGS6 seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF.
CCDC176-RGS6 seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
* 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
TgeneRGS6

GO:0043547

positive regulation of GTPase activity

10521509



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
ChimerDB4BRCATCGA-A2-A0EW-01ABBOF1chr14

74486237

+RGS6chr14

72921236

+
ChimerDB4BRCATCGA-A2-A0EW-01AC14orf45chr14

74486237

-RGS6chr14

72921236

+
ChimerDB4BRCATCGA-A2-A0EW-01ACCDC176chr14

74486237

+RGS6chr14

72921236

+


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Fusion Gene ORF analysis for CCDC176-RGS6

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-3CDSENST00000489323ENST00000343854CCDC176chr14

74486237

+RGS6chr14

72921236

+
3UTR-3CDSENST00000489323ENST00000355512CCDC176chr14

74486237

+RGS6chr14

72921236

+
3UTR-3CDSENST00000489323ENST00000402788CCDC176chr14

74486237

+RGS6chr14

72921236

+
3UTR-3CDSENST00000489323ENST00000404301CCDC176chr14

74486237

+RGS6chr14

72921236

+
3UTR-3CDSENST00000489323ENST00000406236CCDC176chr14

74486237

+RGS6chr14

72921236

+
3UTR-3CDSENST00000489323ENST00000407322CCDC176chr14

74486237

+RGS6chr14

72921236

+
3UTR-3CDSENST00000489323ENST00000553525CCDC176chr14

74486237

+RGS6chr14

72921236

+
3UTR-3CDSENST00000489323ENST00000553530CCDC176chr14

74486237

+RGS6chr14

72921236

+
3UTR-3CDSENST00000489323ENST00000555571CCDC176chr14

74486237

+RGS6chr14

72921236

+
3UTR-3CDSENST00000489323ENST00000556437CCDC176chr14

74486237

+RGS6chr14

72921236

+
3UTR-3UTRENST00000489323ENST00000553690CCDC176chr14

74486237

+RGS6chr14

72921236

+
3UTR-5UTRENST00000489323ENST00000434263CCDC176chr14

74486237

+RGS6chr14

72921236

+
3UTR-intronENST00000489323ENST00000554782CCDC176chr14

74486237

+RGS6chr14

72921236

+
5CDS-3UTRENST00000394009ENST00000553690CCDC176chr14

74486237

+RGS6chr14

72921236

+
5CDS-5UTRENST00000394009ENST00000434263CCDC176chr14

74486237

+RGS6chr14

72921236

+
5CDS-intronENST00000394009ENST00000554782CCDC176chr14

74486237

+RGS6chr14

72921236

+
Frame-shiftENST00000394009ENST00000343854CCDC176chr14

74486237

+RGS6chr14

72921236

+
Frame-shiftENST00000394009ENST00000355512CCDC176chr14

74486237

+RGS6chr14

72921236

+
Frame-shiftENST00000394009ENST00000402788CCDC176chr14

74486237

+RGS6chr14

72921236

+
Frame-shiftENST00000394009ENST00000404301CCDC176chr14

74486237

+RGS6chr14

72921236

+
Frame-shiftENST00000394009ENST00000406236CCDC176chr14

74486237

+RGS6chr14

72921236

+
Frame-shiftENST00000394009ENST00000407322CCDC176chr14

74486237

+RGS6chr14

72921236

+
Frame-shiftENST00000394009ENST00000553525CCDC176chr14

74486237

+RGS6chr14

72921236

+
Frame-shiftENST00000394009ENST00000553530CCDC176chr14

74486237

+RGS6chr14

72921236

+
Frame-shiftENST00000394009ENST00000555571CCDC176chr14

74486237

+RGS6chr14

72921236

+
Frame-shiftENST00000394009ENST00000556437CCDC176chr14

74486237

+RGS6chr14

72921236

+
intron-3CDSENST00000492247ENST00000343854CCDC176chr14

74486237

+RGS6chr14

72921236

+
intron-3CDSENST00000492247ENST00000355512CCDC176chr14

74486237

+RGS6chr14

72921236

+
intron-3CDSENST00000492247ENST00000402788CCDC176chr14

74486237

+RGS6chr14

72921236

+
intron-3CDSENST00000492247ENST00000404301CCDC176chr14

74486237

+RGS6chr14

72921236

+
intron-3CDSENST00000492247ENST00000406236CCDC176chr14

74486237

+RGS6chr14

72921236

+
intron-3CDSENST00000492247ENST00000407322CCDC176chr14

74486237

+RGS6chr14

72921236

+
intron-3CDSENST00000492247ENST00000553525CCDC176chr14

74486237

+RGS6chr14

72921236

+
intron-3CDSENST00000492247ENST00000553530CCDC176chr14

74486237

+RGS6chr14

72921236

+
intron-3CDSENST00000492247ENST00000555571CCDC176chr14

74486237

+RGS6chr14

72921236

+
intron-3CDSENST00000492247ENST00000556437CCDC176chr14

74486237

+RGS6chr14

72921236

+
intron-3CDSENST00000553773ENST00000343854CCDC176chr14

74486237

+RGS6chr14

72921236

+
intron-3CDSENST00000553773ENST00000355512CCDC176chr14

74486237

+RGS6chr14

72921236

+
intron-3CDSENST00000553773ENST00000402788CCDC176chr14

74486237

+RGS6chr14

72921236

+
intron-3CDSENST00000553773ENST00000404301CCDC176chr14

74486237

+RGS6chr14

72921236

+
intron-3CDSENST00000553773ENST00000406236CCDC176chr14

74486237

+RGS6chr14

72921236

+
intron-3CDSENST00000553773ENST00000407322CCDC176chr14

74486237

+RGS6chr14

72921236

+
intron-3CDSENST00000553773ENST00000553525CCDC176chr14

74486237

+RGS6chr14

72921236

+
intron-3CDSENST00000553773ENST00000553530CCDC176chr14

74486237

+RGS6chr14

72921236

+
intron-3CDSENST00000553773ENST00000555571CCDC176chr14

74486237

+RGS6chr14

72921236

+
intron-3CDSENST00000553773ENST00000556437CCDC176chr14

74486237

+RGS6chr14

72921236

+
intron-3UTRENST00000492247ENST00000553690CCDC176chr14

74486237

+RGS6chr14

72921236

+
intron-3UTRENST00000553773ENST00000553690CCDC176chr14

74486237

+RGS6chr14

72921236

+
intron-5UTRENST00000492247ENST00000434263CCDC176chr14

74486237

+RGS6chr14

72921236

+
intron-5UTRENST00000553773ENST00000434263CCDC176chr14

74486237

+RGS6chr14

72921236

+
intron-intronENST00000492247ENST00000554782CCDC176chr14

74486237

+RGS6chr14

72921236

+
intron-intronENST00000553773ENST00000554782CCDC176chr14

74486237

+RGS6chr14

72921236

+

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 CCDC176-RGS6


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)
CCDC176chr1474486237+RGS6chr1472921235+0.032540790.96745926
CCDC176chr1474486237+RGS6chr1472921235+0.032540790.96745926


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 CCDC176-RGS6


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/:74486237/:72921236)
- 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 CCDC176-RGS6


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 CCDC176-RGS6


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 CCDC176-RGS6


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 CCDC176-RGS6


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneBBOF1C0032460Polycystic Ovary Syndrome1CTD_human
HgeneBBOF1C1136382Sclerocystic Ovaries1CTD_human
TgeneC0525045Mood Disorders1PSYGENET