FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact
Center for Computational Systems Medicine
leaf

Fusion Gene Summary

leaf

Fusion Gene ORF analysis

leaf

Fusion Genomic Features

leaf

Fusion Protein Features

leaf

Fusion Gene Sequence

leaf

Fusion Gene PPI analysis

leaf

Related Drugs

leaf

Related Diseases

Fusion gene:C1QBP-RPAIN (FusionGDB2 ID:11420)

Fusion Gene Summary for C1QBP-RPAIN

check button Fusion gene summary
Fusion gene informationFusion gene name: C1QBP-RPAIN
Fusion gene ID: 11420
HgeneTgene
Gene symbol

C1QBP

RPAIN

Gene ID

708

84268

Gene namecomplement C1q binding proteinRPA interacting protein
SynonymsCOXPD33|GC1QBP|HABP1|SF2AP32|SF2p32|gC1Q-R|gC1qR|p32HRIP|RIP
Cytomap

17p13.2

17p13.2

Type of geneprotein-codingprotein-coding
Descriptioncomplement component 1 Q subcomponent-binding protein, mitochondrialASF/SF2-associated protein p32C1q globular domain-binding proteincomplement component 1, q subcomponent binding proteinglycoprotein gC1qBPhyaluronan-binding protein 1mitochondrial mRPA-interacting proteinRAP interaction proteinnuclear transporter
Modification date2020032720200320
UniProtAcc

Q07021

.
Ensembl transtripts involved in fusion geneENST00000574444, ENST00000225698, 
ENST00000381208, ENST00000381209, 
ENST00000327154, ENST00000405578, 
ENST00000536255, ENST00000574003, 
Fusion gene scores* DoF score5 X 9 X 2=903 X 9 X 2=54
# samples 109
** MAII scorelog2(10/90*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(9/54*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: C1QBP [Title/Abstract] AND RPAIN [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointRPAIN(5336399)-C1QBP(5336627), # samples:1
RPAIN(5336484)-C1QBP(5336613), # samples:1
C1QBP(5336142)-RPAIN(5336140), # 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
HgeneC1QBP

GO:0000122

negative regulation of transcription by RNA polymerase II

15243141

HgeneC1QBP

GO:0030449

regulation of complement activation

8195709

HgeneC1QBP

GO:0032689

negative regulation of interferon-gamma production

17881511

HgeneC1QBP

GO:0032695

negative regulation of interleukin-12 production

16177118|17881511

HgeneC1QBP

GO:0039534

negative regulation of MDA-5 signaling pathway

19164550

HgeneC1QBP

GO:0039536

negative regulation of RIG-I signaling pathway

19164550

HgeneC1QBP

GO:0048025

negative regulation of mRNA splicing, via spliceosome

10022843

HgeneC1QBP

GO:0090023

positive regulation of neutrophil chemotaxis

9461517

TgeneRPAIN

GO:0006606

protein import into nucleus

16135809


check buttonFusion gene breakpoints across C1QBP (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 RPAIN (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
ChiTaRS5.0N/ABF432700C1QBPchr17

5335862

-RPAINchr17

5331531

-
ChiTaRS5.0N/AEC439807C1QBPchr17

5336142

-RPAINchr17

5336140

-
ChiTaRS5.0N/AEC446106C1QBPchr17

5336173

-RPAINchr17

5336171

-
ChiTaRS5.0N/AEC454886C1QBPchr17

5336111

-RPAINchr17

5336109

-
ChiTaRS5.0N/AEC518596C1QBPchr17

5336119

-RPAINchr17

5336117

-
ChiTaRS5.0N/AEC538906C1QBPchr17

5336142

-RPAINchr17

5336140

-
ChiTaRS5.0N/AEC557689C1QBPchr17

5336109

-RPAINchr17

5336107

-


Top

Fusion Gene ORF analysis for C1QBP-RPAIN

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-3UTRENST00000574444ENST00000381208C1QBPchr17

5336119

-RPAINchr17

5336117

-
5CDS-3UTRENST00000574444ENST00000381209C1QBPchr17

5336119

-RPAINchr17

5336117

-
5CDS-intronENST00000574444ENST00000327154C1QBPchr17

5336119

-RPAINchr17

5336117

-
5CDS-intronENST00000574444ENST00000405578C1QBPchr17

5336119

-RPAINchr17

5336117

-
5CDS-intronENST00000574444ENST00000536255C1QBPchr17

5336119

-RPAINchr17

5336117

-
5CDS-intronENST00000574444ENST00000574003C1QBPchr17

5336119

-RPAINchr17

5336117

-
intron-3UTRENST00000225698ENST00000381208C1QBPchr17

5336142

-RPAINchr17

5336140

-
intron-3UTRENST00000225698ENST00000381208C1QBPchr17

5336173

-RPAINchr17

5336171

-
intron-3UTRENST00000225698ENST00000381208C1QBPchr17

5336111

-RPAINchr17

5336109

-
intron-3UTRENST00000225698ENST00000381208C1QBPchr17

5336119

-RPAINchr17

5336117

-
intron-3UTRENST00000225698ENST00000381208C1QBPchr17

5336109

-RPAINchr17

5336107

-
intron-3UTRENST00000225698ENST00000381209C1QBPchr17

5336142

-RPAINchr17

5336140

-
intron-3UTRENST00000225698ENST00000381209C1QBPchr17

5336173

-RPAINchr17

5336171

-
intron-3UTRENST00000225698ENST00000381209C1QBPchr17

5336111

-RPAINchr17

5336109

-
intron-3UTRENST00000225698ENST00000381209C1QBPchr17

5336119

-RPAINchr17

5336117

-
intron-3UTRENST00000225698ENST00000381209C1QBPchr17

5336109

-RPAINchr17

5336107

-
intron-3UTRENST00000225698ENST00000574003C1QBPchr17

5335862

-RPAINchr17

5331531

-
intron-3UTRENST00000574444ENST00000381208C1QBPchr17

5336142

-RPAINchr17

5336140

-
intron-3UTRENST00000574444ENST00000381208C1QBPchr17

5336173

-RPAINchr17

5336171

-
intron-3UTRENST00000574444ENST00000381208C1QBPchr17

5336111

-RPAINchr17

5336109

-
intron-3UTRENST00000574444ENST00000381208C1QBPchr17

5336109

-RPAINchr17

5336107

-
intron-3UTRENST00000574444ENST00000381209C1QBPchr17

5336142

-RPAINchr17

5336140

-
intron-3UTRENST00000574444ENST00000381209C1QBPchr17

5336173

-RPAINchr17

5336171

-
intron-3UTRENST00000574444ENST00000381209C1QBPchr17

5336111

-RPAINchr17

5336109

-
intron-3UTRENST00000574444ENST00000381209C1QBPchr17

5336109

-RPAINchr17

5336107

-
intron-3UTRENST00000574444ENST00000574003C1QBPchr17

5335862

-RPAINchr17

5331531

-
intron-intronENST00000225698ENST00000327154C1QBPchr17

5335862

-RPAINchr17

5331531

-
intron-intronENST00000225698ENST00000327154C1QBPchr17

5336142

-RPAINchr17

5336140

-
intron-intronENST00000225698ENST00000327154C1QBPchr17

5336173

-RPAINchr17

5336171

-
intron-intronENST00000225698ENST00000327154C1QBPchr17

5336111

-RPAINchr17

5336109

-
intron-intronENST00000225698ENST00000327154C1QBPchr17

5336119

-RPAINchr17

5336117

-
intron-intronENST00000225698ENST00000327154C1QBPchr17

5336109

-RPAINchr17

5336107

-
intron-intronENST00000225698ENST00000381208C1QBPchr17

5335862

-RPAINchr17

5331531

-
intron-intronENST00000225698ENST00000381209C1QBPchr17

5335862

-RPAINchr17

5331531

-
intron-intronENST00000225698ENST00000405578C1QBPchr17

5335862

-RPAINchr17

5331531

-
intron-intronENST00000225698ENST00000405578C1QBPchr17

5336142

-RPAINchr17

5336140

-
intron-intronENST00000225698ENST00000405578C1QBPchr17

5336173

-RPAINchr17

5336171

-
intron-intronENST00000225698ENST00000405578C1QBPchr17

5336111

-RPAINchr17

5336109

-
intron-intronENST00000225698ENST00000405578C1QBPchr17

5336119

-RPAINchr17

5336117

-
intron-intronENST00000225698ENST00000405578C1QBPchr17

5336109

-RPAINchr17

5336107

-
intron-intronENST00000225698ENST00000536255C1QBPchr17

5335862

-RPAINchr17

5331531

-
intron-intronENST00000225698ENST00000536255C1QBPchr17

5336142

-RPAINchr17

5336140

-
intron-intronENST00000225698ENST00000536255C1QBPchr17

5336173

-RPAINchr17

5336171

-
intron-intronENST00000225698ENST00000536255C1QBPchr17

5336111

-RPAINchr17

5336109

-
intron-intronENST00000225698ENST00000536255C1QBPchr17

5336119

-RPAINchr17

5336117

-
intron-intronENST00000225698ENST00000536255C1QBPchr17

5336109

-RPAINchr17

5336107

-
intron-intronENST00000225698ENST00000574003C1QBPchr17

5336142

-RPAINchr17

5336140

-
intron-intronENST00000225698ENST00000574003C1QBPchr17

5336173

-RPAINchr17

5336171

-
intron-intronENST00000225698ENST00000574003C1QBPchr17

5336111

-RPAINchr17

5336109

-
intron-intronENST00000225698ENST00000574003C1QBPchr17

5336119

-RPAINchr17

5336117

-
intron-intronENST00000225698ENST00000574003C1QBPchr17

5336109

-RPAINchr17

5336107

-
intron-intronENST00000574444ENST00000327154C1QBPchr17

5335862

-RPAINchr17

5331531

-
intron-intronENST00000574444ENST00000327154C1QBPchr17

5336142

-RPAINchr17

5336140

-
intron-intronENST00000574444ENST00000327154C1QBPchr17

5336173

-RPAINchr17

5336171

-
intron-intronENST00000574444ENST00000327154C1QBPchr17

5336111

-RPAINchr17

5336109

-
intron-intronENST00000574444ENST00000327154C1QBPchr17

5336109

-RPAINchr17

5336107

-
intron-intronENST00000574444ENST00000381208C1QBPchr17

5335862

-RPAINchr17

5331531

-
intron-intronENST00000574444ENST00000381209C1QBPchr17

5335862

-RPAINchr17

5331531

-
intron-intronENST00000574444ENST00000405578C1QBPchr17

5335862

-RPAINchr17

5331531

-
intron-intronENST00000574444ENST00000405578C1QBPchr17

5336142

-RPAINchr17

5336140

-
intron-intronENST00000574444ENST00000405578C1QBPchr17

5336173

-RPAINchr17

5336171

-
intron-intronENST00000574444ENST00000405578C1QBPchr17

5336111

-RPAINchr17

5336109

-
intron-intronENST00000574444ENST00000405578C1QBPchr17

5336109

-RPAINchr17

5336107

-
intron-intronENST00000574444ENST00000536255C1QBPchr17

5335862

-RPAINchr17

5331531

-
intron-intronENST00000574444ENST00000536255C1QBPchr17

5336142

-RPAINchr17

5336140

-
intron-intronENST00000574444ENST00000536255C1QBPchr17

5336173

-RPAINchr17

5336171

-
intron-intronENST00000574444ENST00000536255C1QBPchr17

5336111

-RPAINchr17

5336109

-
intron-intronENST00000574444ENST00000536255C1QBPchr17

5336109

-RPAINchr17

5336107

-
intron-intronENST00000574444ENST00000574003C1QBPchr17

5336142

-RPAINchr17

5336140

-
intron-intronENST00000574444ENST00000574003C1QBPchr17

5336173

-RPAINchr17

5336171

-
intron-intronENST00000574444ENST00000574003C1QBPchr17

5336111

-RPAINchr17

5336109

-
intron-intronENST00000574444ENST00000574003C1QBPchr17

5336109

-RPAINchr17

5336107

-

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

Top

Fusion Genomic Features for C1QBP-RPAIN


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.

Top

Fusion Protein Features for C1QBP-RPAIN


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/:5336399/:5336627)
- 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
C1QBP

Q07021

.
FUNCTION: Is believed to be a multifunctional and multicompartmental protein involved in inflammation and infection processes, ribosome biogenesis, protein synthesis in mitochondria, regulation of apoptosis, transcriptional regulation and pre-mRNA splicing. At the cell surface is thought to act as an endothelial receptor for plasma proteins of the complement and kallikrein-kinin cascades. Putative receptor for C1q; specifically binds to the globular 'heads' of C1q thus inhibiting C1; may perform the receptor function through a complex with C1qR/CD93. In complex with cytokeratin-1/KRT1 is a high affinity receptor for kininogen-1/HMWK. Can also bind other plasma proteins, such as coagulation factor XII leading to its autoactivation. May function to bind initially fluid kininogen-1 to the cell membrane. The secreted form may enhance both extrinsic and intrinsic coagulation pathways. It is postulated that the cell surface form requires docking with transmembrane proteins for downstream signaling which might be specific for a cell-type or response. By acting as C1q receptor is involved in chemotaxis of immature dendritic cells and neutrophils and is proposed to signal through CD209/DC-SIGN on immature dendritic cells, through integrin alpha-4/beta-1 during trophoblast invasion of the decidua, and through integrin beta-1 during endothelial cell adhesion and spreading. Signaling involved in inhibition of innate immune response is implicating the PI3K-AKT/PKB pathway. Required for protein synthesis in mitochondria (PubMed:28942965). In mitochondrial translation may be involved in formation of functional 55S mitoribosomes; the function seems to involve its RNA-binding activity. May be involved in the nucleolar ribosome maturation process; the function may involve the exchange of FBL for RRP1 in the association with pre-ribosome particles. Involved in regulation of RNA splicing by inhibiting the RNA-binding capacity of SRSF1 and its phosphorylation. Is required for the nuclear translocation of splicing factor U2AF1L4. Involved in regulation of CDKN2A- and HRK-mediated apoptosis. Stabilizes mitochondrial CDKN2A isoform smARF. May be involved in regulation of FOXC1 transcriptional activity and NFY/CCAAT-binding factor complex-mediated transcription. May play a role in antibacterial defense as it can bind to cell surface hyaluronan and inhibit Streptococcus pneumoniae hyaluronate lyase. May be involved in modulation of the immune response; ligation by HCV core protein is resulting in suppression of interleukin-12 production in monocyte-derived dendritic cells. Involved in regulation of antiviral response by inhibiting DDX58- and IFIH1-mediated signaling pathways probably involving its association with MAVS after viral infection. {ECO:0000269|PubMed:10022843, ECO:0000269|PubMed:10479529, ECO:0000269|PubMed:10722602, ECO:0000269|PubMed:11086025, ECO:0000269|PubMed:11859136, ECO:0000269|PubMed:15243141, ECO:0000269|PubMed:16140380, ECO:0000269|PubMed:16177118, ECO:0000269|PubMed:17881511, ECO:0000269|PubMed:18676636, ECO:0000269|PubMed:19004836, ECO:0000269|PubMed:19164550, ECO:0000269|PubMed:20810993, ECO:0000269|PubMed:21536856, ECO:0000269|PubMed:21544310, ECO:0000269|PubMed:22700724, ECO:0000269|PubMed:28942965, ECO:0000269|PubMed:8662673, ECO:0000269|PubMed:8710908, ECO:0000269|PubMed:9461517}.; FUNCTION: (Microbial infection) Involved in HIV-1 replication, presumably by contributing to splicing of viral RNA. {ECO:0000269|PubMed:12833064}.; FUNCTION: (Microbial infection) In infection processes acts as an attachment site for microbial proteins, including Listeria monocytogenes internalin B (InlB) and Staphylococcus aureus protein A. {ECO:0000269|PubMed:10722602, ECO:0000269|PubMed:10747014, ECO:0000269|PubMed:12411480}.; FUNCTION: (Microbial infection) Involved in replication of Rubella virus. {ECO:0000269|PubMed:12034482}.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


Top

Fusion Gene Sequence for C1QBP-RPAIN


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.

Top

Fusion Gene PPI Analysis for C1QBP-RPAIN


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


Top

Related Drugs for C1QBP-RPAIN


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

Top

Related Diseases for C1QBP-RPAIN


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