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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:C3-ALB (FusionGDB2 ID:11683)

Fusion Gene Summary for C3-ALB

Fusion gene summary

Fusion gene information	Fusion gene name: C3-ALB
	Fusion gene ID: 11683
		Hgene	Tgene
	Gene symbol	C3	ALB
	Gene ID	718	213
	Gene name	complement C3	albumin
	Synonyms	AHUS5\|ARMD9\|ASP\|C3a\|C3b\|CPAMD1\|HEL-S-62p	HSA\|PRO0883\|PRO0903\|PRO1341
	Cytomap	19p13.3	4q13.3
	Type of gene	protein-coding	protein-coding
	Description	complement C3C3 and PZP-like alpha-2-macroglobulin domain-containing protein 1C3a anaphylatoxinacylation-stimulating protein cleavage productcomplement component 3complement component C3acomplement component C3bepididymis secretory sperm binding pr	serum albumin
	Modification date	20200327	20200329
	UniProtAcc	P01024	P02768
	Ensembl transtripts involved in fusion gene	ENST00000245907, ENST00000599668,	ENST00000505649, ENST00000295897, ENST00000401494, ENST00000415165, ENST00000503124, ENST00000509063,
Fusion gene scores	* DoF score	28 X 24 X 14=9408	49 X 62 X 5=15190
	# samples	33	64
	** MAII score	log2(33/9408*10)=-4.83335013059055 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(64/15190*10)=-4.56890615450208 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context	PubMed: C3 [Title/Abstract] AND ALB [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint	ALB(74285356)-C3(6677982), # samples:1 C3(6677874)-ALB(74283824), # samples:1 C3(6684574)-ALB(74285322), # samples:1 C3(6682029)-ALB(74270017), # samples:1
Anticipated loss of major functional domain due to fusion event.	C3-ALB seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF. C3-ALB seems lost the major protein functional domain in Tgene partner, which is a cell metabolism gene due to the frame-shifted ORF. C3-ALB seems lost the major protein functional domain in Tgene partner, which is a essential gene 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)

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	C3	GO:0001934	positive regulation of protein phosphorylation	15833747
Hgene	C3	GO:0010575	positive regulation of vascular endothelial growth factor production	16452172
Hgene	C3	GO:0010828	positive regulation of glucose transmembrane transport	9059512\|15833747
Hgene	C3	GO:0010866	regulation of triglyceride biosynthetic process	10432298
Hgene	C3	GO:0010884	positive regulation of lipid storage	9555951
Hgene	C3	GO:0045745	positive regulation of G protein-coupled receptor signaling pathway	15833747
Tgene	ALB	GO:0009267	cellular response to starvation	16245148
Tgene	ALB	GO:0043066	negative regulation of apoptotic process	16153637
Tgene	ALB	GO:0051659	maintenance of mitochondrion location	16153637

Fusion gene breakpoints across C3 (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 ALB (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	CHOL	TCGA-W5-AA30-11A	C3	chr19	6684574	-	ALB	chr4	74285322	+
ChimerDB4	CHOL	TCGA-ZU-A8S4-11A	C3	chr19	6677874	-	ALB	chr4	74283824	+
ChiTaRS5.0	N/A	AI305112	C3	chr19	6682029	+	ALB	chr4	74270017	+

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Fusion Gene ORF analysis for C3-ALB

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-3UTR	ENST00000245907	ENST00000505649	C3	chr19	6684574	-	ALB	chr4	74285322	+
5CDS-3UTR	ENST00000599668	ENST00000505649	C3	chr19	6677874	-	ALB	chr4	74283824	+
Frame-shift	ENST00000245907	ENST00000295897	C3	chr19	6684574	-	ALB	chr4	74285322	+
Frame-shift	ENST00000245907	ENST00000401494	C3	chr19	6684574	-	ALB	chr4	74285322	+
Frame-shift	ENST00000245907	ENST00000415165	C3	chr19	6684574	-	ALB	chr4	74285322	+
Frame-shift	ENST00000245907	ENST00000503124	C3	chr19	6684574	-	ALB	chr4	74285322	+
Frame-shift	ENST00000245907	ENST00000509063	C3	chr19	6684574	-	ALB	chr4	74285322	+
Frame-shift	ENST00000599668	ENST00000295897	C3	chr19	6677874	-	ALB	chr4	74283824	+
Frame-shift	ENST00000599668	ENST00000401494	C3	chr19	6677874	-	ALB	chr4	74283824	+
Frame-shift	ENST00000599668	ENST00000415165	C3	chr19	6677874	-	ALB	chr4	74283824	+
Frame-shift	ENST00000599668	ENST00000503124	C3	chr19	6677874	-	ALB	chr4	74283824	+
Frame-shift	ENST00000599668	ENST00000509063	C3	chr19	6677874	-	ALB	chr4	74283824	+
intron-3CDS	ENST00000245907	ENST00000295897	C3	chr19	6677874	-	ALB	chr4	74283824	+
intron-3CDS	ENST00000245907	ENST00000401494	C3	chr19	6677874	-	ALB	chr4	74283824	+
intron-3CDS	ENST00000245907	ENST00000415165	C3	chr19	6677874	-	ALB	chr4	74283824	+
intron-3CDS	ENST00000245907	ENST00000503124	C3	chr19	6677874	-	ALB	chr4	74283824	+
intron-3CDS	ENST00000245907	ENST00000509063	C3	chr19	6677874	-	ALB	chr4	74283824	+
intron-3CDS	ENST00000599668	ENST00000295897	C3	chr19	6684574	-	ALB	chr4	74285322	+
intron-3CDS	ENST00000599668	ENST00000401494	C3	chr19	6684574	-	ALB	chr4	74285322	+
intron-3CDS	ENST00000599668	ENST00000415165	C3	chr19	6684574	-	ALB	chr4	74285322	+
intron-3CDS	ENST00000599668	ENST00000503124	C3	chr19	6684574	-	ALB	chr4	74285322	+
intron-3CDS	ENST00000599668	ENST00000509063	C3	chr19	6684574	-	ALB	chr4	74285322	+
intron-3UTR	ENST00000245907	ENST00000505649	C3	chr19	6677874	-	ALB	chr4	74283824	+
intron-3UTR	ENST00000599668	ENST00000505649	C3	chr19	6684574	-	ALB	chr4	74285322	+
intron-5UTR	ENST00000245907	ENST00000295897	C3	chr19	6682029	+	ALB	chr4	74270017	+
intron-5UTR	ENST00000245907	ENST00000415165	C3	chr19	6682029	+	ALB	chr4	74270017	+
intron-5UTR	ENST00000245907	ENST00000503124	C3	chr19	6682029	+	ALB	chr4	74270017	+
intron-5UTR	ENST00000245907	ENST00000509063	C3	chr19	6682029	+	ALB	chr4	74270017	+
intron-5UTR	ENST00000599668	ENST00000295897	C3	chr19	6682029	+	ALB	chr4	74270017	+
intron-5UTR	ENST00000599668	ENST00000415165	C3	chr19	6682029	+	ALB	chr4	74270017	+
intron-5UTR	ENST00000599668	ENST00000503124	C3	chr19	6682029	+	ALB	chr4	74270017	+
intron-5UTR	ENST00000599668	ENST00000509063	C3	chr19	6682029	+	ALB	chr4	74270017	+
intron-intron	ENST00000245907	ENST00000401494	C3	chr19	6682029	+	ALB	chr4	74270017	+
intron-intron	ENST00000245907	ENST00000505649	C3	chr19	6682029	+	ALB	chr4	74270017	+
intron-intron	ENST00000599668	ENST00000401494	C3	chr19	6682029	+	ALB	chr4	74270017	+
intron-intron	ENST00000599668	ENST00000505649	C3	chr19	6682029	+	ALB	chr4	74270017	+

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 C3-ALB

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 C3-ALB

Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:74285356/:6677982)
- 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
C3 P01024	ALB P02768
FUNCTION: C3 plays a central role in the activation of the complement system. Its processing by C3 convertase is the central reaction in both classical and alternative complement pathways. After activation C3b can bind covalently, via its reactive thioester, to cell surface carbohydrates or immune aggregates.; FUNCTION: Derived from proteolytic degradation of complement C3, C3a anaphylatoxin is a mediator of local inflammatory process. In chronic inflammation, acts as a chemoattractant for neutrophils (By similarity). It induces the contraction of smooth muscle, increases vascular permeability and causes histamine release from mast cells and basophilic leukocytes. {ECO:0000250}.; FUNCTION: [C3-beta-c]: Acts as a chemoattractant for neutrophils in chronic inflammation. {ECO:0000250}.; FUNCTION: [Acylation stimulating protein]: adipogenic hormone that stimulates triglyceride (TG) synthesis and glucose transport in adipocytes, regulating fat storage and playing a role in postprandial TG clearance. Appears to stimulate TG synthesis via activation of the PLC, MAPK and AKT signaling pathways. Ligand for C5AR2. Promotes the phosphorylation, ARRB2-mediated internalization and recycling of C5AR2 (PubMed:8376604, PubMed:2909530, PubMed:9059512, PubMed:10432298, PubMed:15833747, PubMed:16333141, PubMed:19615750). {ECO:0000269\|PubMed:10432298, ECO:0000269\|PubMed:15833747, ECO:0000269\|PubMed:16333141, ECO:0000269\|PubMed:19615750, ECO:0000269\|PubMed:2909530, ECO:0000269\|PubMed:8376604, ECO:0000269\|PubMed:9059512}.	FUNCTION: Binds water, Ca(2+), Na(+), K(+), fatty acids, hormones, bilirubin and drugs (Probable). Its main function is the regulation of the colloidal osmotic pressure of blood (Probable). Major zinc transporter in plasma, typically binds about 80% of all plasma zinc (PubMed:19021548). Major calcium and magnesium transporter in plasma, binds approximately 45% of circulating calcium and magnesium in plasma (By similarity). Potentially has more than two calcium-binding sites and might additionally bind calcium in a non-specific manner (By similarity). The shared binding site between zinc and calcium at residue Asp-273 suggests a crosstalk between zinc and calcium transport in the blood (By similarity). The rank order of affinity is zinc > calcium > magnesium (By similarity). Binds to the bacterial siderophore enterobactin and inhibits enterobactin-mediated iron uptake of E.coli from ferric transferrin, and may thereby limit the utilization of iron and growth of enteric bacteria such as E.coli (PubMed:6234017). Does not prevent iron uptake by the bacterial siderophore aerobactin (PubMed:6234017). {ECO:0000250\|UniProtKB:P02769, ECO:0000269\|PubMed:19021548, ECO:0000269\|PubMed:6234017, ECO:0000305\|PubMed:1630489}.

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 C3-ALB

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 C3-ALB

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 C3-ALB

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 C3-ALB

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner

Gene

Disease ID

Disease name

# pubmeds

Source