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	Fusion Gene Summary
	Fusion Gene ORF analysis
	Fusion Genomic Features
	Fusion Protein Features
	Fusion Gene Sequence
	Fusion Gene PPI analysis
	Related Drugs
	Related Diseases

Fusion gene:RPL18-CFB (FusionGDB2 ID:76037)

Fusion Gene Summary for RPL18-CFB

Fusion gene summary

Fusion gene information	Fusion gene name: RPL18-CFB
	Fusion gene ID: 76037
		Hgene	Tgene
	Gene symbol	RPL18	CFB
	Gene ID	6141	629
	Gene name	ribosomal protein L18	complement factor B
	Synonyms	DBA18\|L18	AHUS4\|ARMD14\|BF\|BFD\|CFAB\|CFBD\|FB\|FBI12\|GBG\|H2-Bf\|PBF2
	Cytomap	19q13.33	6p21.33
	Type of gene	protein-coding	protein-coding
	Description	60S ribosomal protein L18large ribosomal subunit protein eL18	complement factor BB-factor, properdinC3 proacceleratorC3 proactivatorC3/C5 convertaseglycine-rich beta-glycoproteinproperdin factor B
	Modification date	20200313	20200327
	UniProtAcc	.	P00751
	Ensembl transtripts involved in fusion gene	ENST00000549920, ENST00000550645, ENST00000552588, ENST00000549273,	ENST00000375455, ENST00000399981, ENST00000417261, ENST00000419411, ENST00000419920, ENST00000424727, ENST00000425368, ENST00000426239, ENST00000427888, ENST00000433503, ENST00000436692, ENST00000455591, ENST00000456570, ENST00000459734, ENST00000460958, ENST00000465211, ENST00000473139, ENST00000474621, ENST00000477310, ENST00000489605, ENST00000497841, ENST00000556679,
Fusion gene scores	* DoF score	39 X 18 X 9=6318	17 X 11 X 9=1683
	# samples	39	20
	** MAII score	log2(39/6318*10)=-4.01792190799726 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(20/1683*10)=-3.07296327155522 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context	PubMed: RPL18 [Title/Abstract] AND CFB [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint	RPL18(49118585)-CFB(31913427), # 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)

Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez

Partner	Gene	GO ID	GO term	PubMed ID
Hgene	RPL18	GO:0002181	cytoplasmic translation	25957688

Fusion gene breakpoints across RPL18 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

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

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.

Source	Disease	Sample	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
ChimerDB4	HNSC	TCGA-CR-7376-01A	RPL18	chr19	49118585	-	CFB	chr6	31913427	+

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Fusion Gene ORF analysis for RPL18-CFB

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.

ORF	Henst	Tenst	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
5CDS-intron	ENST00000549920	ENST00000375455	RPL18	chr19	49118585	-	CFB	chr6	31913427	+
5CDS-intron	ENST00000549920	ENST00000399981	RPL18	chr19	49118585	-	CFB	chr6	31913427	+
5CDS-intron	ENST00000549920	ENST00000417261	RPL18	chr19	49118585	-	CFB	chr6	31913427	+
5CDS-intron	ENST00000549920	ENST00000419411	RPL18	chr19	49118585	-	CFB	chr6	31913427	+
5CDS-intron	ENST00000549920	ENST00000419920	RPL18	chr19	49118585	-	CFB	chr6	31913427	+
5CDS-intron	ENST00000549920	ENST00000424727	RPL18	chr19	49118585	-	CFB	chr6	31913427	+
5CDS-intron	ENST00000549920	ENST00000425368	RPL18	chr19	49118585	-	CFB	chr6	31913427	+
5CDS-intron	ENST00000549920	ENST00000426239	RPL18	chr19	49118585	-	CFB	chr6	31913427	+
5CDS-intron	ENST00000549920	ENST00000427888	RPL18	chr19	49118585	-	CFB	chr6	31913427	+
5CDS-intron	ENST00000549920	ENST00000433503	RPL18	chr19	49118585	-	CFB	chr6	31913427	+
5CDS-intron	ENST00000549920	ENST00000436692	RPL18	chr19	49118585	-	CFB	chr6	31913427	+
5CDS-intron	ENST00000549920	ENST00000455591	RPL18	chr19	49118585	-	CFB	chr6	31913427	+
5CDS-intron	ENST00000549920	ENST00000456570	RPL18	chr19	49118585	-	CFB	chr6	31913427	+
5CDS-intron	ENST00000549920	ENST00000459734	RPL18	chr19	49118585	-	CFB	chr6	31913427	+
5CDS-intron	ENST00000549920	ENST00000460958	RPL18	chr19	49118585	-	CFB	chr6	31913427	+
5CDS-intron	ENST00000549920	ENST00000465211	RPL18	chr19	49118585	-	CFB	chr6	31913427	+
5CDS-intron	ENST00000549920	ENST00000473139	RPL18	chr19	49118585	-	CFB	chr6	31913427	+
5CDS-intron	ENST00000549920	ENST00000474621	RPL18	chr19	49118585	-	CFB	chr6	31913427	+
5CDS-intron	ENST00000549920	ENST00000477310	RPL18	chr19	49118585	-	CFB	chr6	31913427	+
5CDS-intron	ENST00000549920	ENST00000489605	RPL18	chr19	49118585	-	CFB	chr6	31913427	+
5CDS-intron	ENST00000549920	ENST00000497841	RPL18	chr19	49118585	-	CFB	chr6	31913427	+
5CDS-intron	ENST00000549920	ENST00000556679	RPL18	chr19	49118585	-	CFB	chr6	31913427	+
5CDS-intron	ENST00000550645	ENST00000375455	RPL18	chr19	49118585	-	CFB	chr6	31913427	+
5CDS-intron	ENST00000550645	ENST00000399981	RPL18	chr19	49118585	-	CFB	chr6	31913427	+
5CDS-intron	ENST00000550645	ENST00000417261	RPL18	chr19	49118585	-	CFB	chr6	31913427	+
5CDS-intron	ENST00000550645	ENST00000419411	RPL18	chr19	49118585	-	CFB	chr6	31913427	+
5CDS-intron	ENST00000550645	ENST00000419920	RPL18	chr19	49118585	-	CFB	chr6	31913427	+
5CDS-intron	ENST00000550645	ENST00000424727	RPL18	chr19	49118585	-	CFB	chr6	31913427	+
5CDS-intron	ENST00000550645	ENST00000425368	RPL18	chr19	49118585	-	CFB	chr6	31913427	+
5CDS-intron	ENST00000550645	ENST00000426239	RPL18	chr19	49118585	-	CFB	chr6	31913427	+
5CDS-intron	ENST00000550645	ENST00000427888	RPL18	chr19	49118585	-	CFB	chr6	31913427	+
5CDS-intron	ENST00000550645	ENST00000433503	RPL18	chr19	49118585	-	CFB	chr6	31913427	+
5CDS-intron	ENST00000550645	ENST00000436692	RPL18	chr19	49118585	-	CFB	chr6	31913427	+
5CDS-intron	ENST00000550645	ENST00000455591	RPL18	chr19	49118585	-	CFB	chr6	31913427	+
5CDS-intron	ENST00000550645	ENST00000456570	RPL18	chr19	49118585	-	CFB	chr6	31913427	+
5CDS-intron	ENST00000550645	ENST00000459734	RPL18	chr19	49118585	-	CFB	chr6	31913427	+
5CDS-intron	ENST00000550645	ENST00000460958	RPL18	chr19	49118585	-	CFB	chr6	31913427	+
5CDS-intron	ENST00000550645	ENST00000465211	RPL18	chr19	49118585	-	CFB	chr6	31913427	+
5CDS-intron	ENST00000550645	ENST00000473139	RPL18	chr19	49118585	-	CFB	chr6	31913427	+
5CDS-intron	ENST00000550645	ENST00000474621	RPL18	chr19	49118585	-	CFB	chr6	31913427	+
5CDS-intron	ENST00000550645	ENST00000477310	RPL18	chr19	49118585	-	CFB	chr6	31913427	+
5CDS-intron	ENST00000550645	ENST00000489605	RPL18	chr19	49118585	-	CFB	chr6	31913427	+
5CDS-intron	ENST00000550645	ENST00000497841	RPL18	chr19	49118585	-	CFB	chr6	31913427	+
5CDS-intron	ENST00000550645	ENST00000556679	RPL18	chr19	49118585	-	CFB	chr6	31913427	+
5CDS-intron	ENST00000552588	ENST00000375455	RPL18	chr19	49118585	-	CFB	chr6	31913427	+
5CDS-intron	ENST00000552588	ENST00000399981	RPL18	chr19	49118585	-	CFB	chr6	31913427	+
5CDS-intron	ENST00000552588	ENST00000417261	RPL18	chr19	49118585	-	CFB	chr6	31913427	+
5CDS-intron	ENST00000552588	ENST00000419411	RPL18	chr19	49118585	-	CFB	chr6	31913427	+
5CDS-intron	ENST00000552588	ENST00000419920	RPL18	chr19	49118585	-	CFB	chr6	31913427	+
5CDS-intron	ENST00000552588	ENST00000424727	RPL18	chr19	49118585	-	CFB	chr6	31913427	+
5CDS-intron	ENST00000552588	ENST00000425368	RPL18	chr19	49118585	-	CFB	chr6	31913427	+
5CDS-intron	ENST00000552588	ENST00000426239	RPL18	chr19	49118585	-	CFB	chr6	31913427	+
5CDS-intron	ENST00000552588	ENST00000427888	RPL18	chr19	49118585	-	CFB	chr6	31913427	+
5CDS-intron	ENST00000552588	ENST00000433503	RPL18	chr19	49118585	-	CFB	chr6	31913427	+
5CDS-intron	ENST00000552588	ENST00000436692	RPL18	chr19	49118585	-	CFB	chr6	31913427	+
5CDS-intron	ENST00000552588	ENST00000455591	RPL18	chr19	49118585	-	CFB	chr6	31913427	+
5CDS-intron	ENST00000552588	ENST00000456570	RPL18	chr19	49118585	-	CFB	chr6	31913427	+
5CDS-intron	ENST00000552588	ENST00000459734	RPL18	chr19	49118585	-	CFB	chr6	31913427	+
5CDS-intron	ENST00000552588	ENST00000460958	RPL18	chr19	49118585	-	CFB	chr6	31913427	+
5CDS-intron	ENST00000552588	ENST00000465211	RPL18	chr19	49118585	-	CFB	chr6	31913427	+
5CDS-intron	ENST00000552588	ENST00000473139	RPL18	chr19	49118585	-	CFB	chr6	31913427	+
5CDS-intron	ENST00000552588	ENST00000474621	RPL18	chr19	49118585	-	CFB	chr6	31913427	+
5CDS-intron	ENST00000552588	ENST00000477310	RPL18	chr19	49118585	-	CFB	chr6	31913427	+
5CDS-intron	ENST00000552588	ENST00000489605	RPL18	chr19	49118585	-	CFB	chr6	31913427	+
5CDS-intron	ENST00000552588	ENST00000497841	RPL18	chr19	49118585	-	CFB	chr6	31913427	+
5CDS-intron	ENST00000552588	ENST00000556679	RPL18	chr19	49118585	-	CFB	chr6	31913427	+
intron-intron	ENST00000549273	ENST00000375455	RPL18	chr19	49118585	-	CFB	chr6	31913427	+
intron-intron	ENST00000549273	ENST00000399981	RPL18	chr19	49118585	-	CFB	chr6	31913427	+
intron-intron	ENST00000549273	ENST00000417261	RPL18	chr19	49118585	-	CFB	chr6	31913427	+
intron-intron	ENST00000549273	ENST00000419411	RPL18	chr19	49118585	-	CFB	chr6	31913427	+
intron-intron	ENST00000549273	ENST00000419920	RPL18	chr19	49118585	-	CFB	chr6	31913427	+
intron-intron	ENST00000549273	ENST00000424727	RPL18	chr19	49118585	-	CFB	chr6	31913427	+
intron-intron	ENST00000549273	ENST00000425368	RPL18	chr19	49118585	-	CFB	chr6	31913427	+
intron-intron	ENST00000549273	ENST00000426239	RPL18	chr19	49118585	-	CFB	chr6	31913427	+
intron-intron	ENST00000549273	ENST00000427888	RPL18	chr19	49118585	-	CFB	chr6	31913427	+
intron-intron	ENST00000549273	ENST00000433503	RPL18	chr19	49118585	-	CFB	chr6	31913427	+
intron-intron	ENST00000549273	ENST00000436692	RPL18	chr19	49118585	-	CFB	chr6	31913427	+
intron-intron	ENST00000549273	ENST00000455591	RPL18	chr19	49118585	-	CFB	chr6	31913427	+
intron-intron	ENST00000549273	ENST00000456570	RPL18	chr19	49118585	-	CFB	chr6	31913427	+
intron-intron	ENST00000549273	ENST00000459734	RPL18	chr19	49118585	-	CFB	chr6	31913427	+
intron-intron	ENST00000549273	ENST00000460958	RPL18	chr19	49118585	-	CFB	chr6	31913427	+
intron-intron	ENST00000549273	ENST00000465211	RPL18	chr19	49118585	-	CFB	chr6	31913427	+
intron-intron	ENST00000549273	ENST00000473139	RPL18	chr19	49118585	-	CFB	chr6	31913427	+
intron-intron	ENST00000549273	ENST00000474621	RPL18	chr19	49118585	-	CFB	chr6	31913427	+
intron-intron	ENST00000549273	ENST00000477310	RPL18	chr19	49118585	-	CFB	chr6	31913427	+
intron-intron	ENST00000549273	ENST00000489605	RPL18	chr19	49118585	-	CFB	chr6	31913427	+
intron-intron	ENST00000549273	ENST00000497841	RPL18	chr19	49118585	-	CFB	chr6	31913427	+
intron-intron	ENST00000549273	ENST00000556679	RPL18	chr19	49118585	-	CFB	chr6	31913427	+

ORFfinder result based on the fusion transcript sequence of in-frame fusion genes.

Henst

Tenst

Hgene

Hchr

Hbp

Hstrand

Tgene

Tchr

Tbp

Tstrand

Seq length
(transcript)

BP loci
(transcript)

Predicted start
(transcript)

Predicted stop
(transcript)

Seq length
(amino acids)

DeepORF 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.

Henst

Tenst

Hgene

Hchr

Hbp

Hstrand

Tgene

Tchr

Tbp

Tstrand

No-coding score

Coding score

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Fusion Genomic Features for RPL18-CFB

FusionAI 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.

Hgene

Hchr

Hbp

Hstrand

Tgene

Tchr

Tbp

Tstrand

1-p

p (fusion gene breakpoint)

Distribution 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.

Distribution 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 RPL18-CFB

Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:49118585/:31913427)
- 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.

Main function of each fusion partner protein. (from UniProt)

Hgene	Tgene
.	CFB P00751
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: Factor B which is part of the alternate pathway of the complement system is cleaved by factor D into 2 fragments: Ba and Bb. Bb, a serine protease, then combines with complement factor 3b to generate the C3 or C5 convertase. It has also been implicated in proliferation and differentiation of preactivated B-lymphocytes, rapid spreading of peripheral blood monocytes, stimulation of lymphocyte blastogenesis and lysis of erythrocytes. Ba inhibits the proliferation of preactivated B-lymphocytes.

Retention 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.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Protein feature

Protein feature note

- In-frame and not-retained protein feature among the 13 regional features.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Protein feature

Protein feature note

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Fusion Gene Sequence for RPL18-CFB

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 RPL18-CFB

Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in
ChiPPI page.

Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)

Hgene

Hgene's interactors

Tgene

Tgene's interactors

- Retained PPIs in in-frame fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Still interaction with

- Lost PPIs in in-frame fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Interaction lost with

- Retained PPIs, but lost function due to frame-shift fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Interaction lost with

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Related Drugs for RPL18-CFB

Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)

Partner

Gene

UniProtAcc

DrugBank ID

Drug name

Drug activity

Drug type

Drug status

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Related Diseases for RPL18-CFB

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner

Gene

Disease ID

Disease name

# pubmeds

Source