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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:ALB-COL6A3 (FusionGDB2 ID:3743)

Fusion Gene Summary for ALB-COL6A3

check button Fusion gene summary
Fusion gene informationFusion gene name: ALB-COL6A3
Fusion gene ID: 3743
HgeneTgene
Gene symbol

ALB

COL6A3

Gene ID

213

1293

Gene namealbumincollagen type VI alpha 3 chain
SynonymsHSA|PRO0883|PRO0903|PRO1341BTHLM1|DYT27|UCMD1
Cytomap

4q13.3

2q37.3

Type of geneprotein-codingprotein-coding
Descriptionserum albumincollagen alpha-3(VI) chaincollagen VI, alpha-3 polypeptidecollagen, type VI, alpha 3epididymis secretory sperm binding protein
Modification date2020032920200328
UniProtAcc

P02768

P12111

Ensembl transtripts involved in fusion geneENST00000295897, ENST00000401494, 
ENST00000415165, ENST00000503124, 
ENST00000509063, ENST00000505649, 
ENST00000473258, ENST00000295550, 
ENST00000346358, ENST00000347401, 
ENST00000353578, ENST00000392003, 
ENST00000392004, ENST00000409809, 
ENST00000472056, 
Fusion gene scores* DoF score66 X 51 X 5=1683013 X 13 X 4=676
# samples 7413
** MAII scorelog2(74/16830*10)=-4.507366095701
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(13/676*10)=-2.37851162325373
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ALB [Title/Abstract] AND COL6A3 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointALB(74283386)-COL6A3(238283283), # samples:1
Anticipated loss of major functional domain due to fusion event.ALB-COL6A3 seems lost the major protein functional domain in Hgene partner, which is a cell metabolism gene due to the frame-shifted ORF.
ALB-COL6A3 seems lost the major protein functional domain in Hgene 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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneALB

GO:0009267

cellular response to starvation

16245148

HgeneALB

GO:0043066

negative regulation of apoptotic process

16153637

HgeneALB

GO:0051659

maintenance of mitochondrion location

16153637


check buttonFusion gene breakpoints across ALB (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 COL6A3 (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
ChimerDB4LIHCTCGA-CC-5261-01AALBchr4

74283386

+COL6A3chr2

238283283

-


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Fusion Gene ORF analysis for ALB-COL6A3

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-intronENST00000295897ENST00000473258ALBchr4

74283386

+COL6A3chr2

238283283

-
5CDS-intronENST00000401494ENST00000473258ALBchr4

74283386

+COL6A3chr2

238283283

-
5CDS-intronENST00000415165ENST00000473258ALBchr4

74283386

+COL6A3chr2

238283283

-
5CDS-intronENST00000503124ENST00000473258ALBchr4

74283386

+COL6A3chr2

238283283

-
5CDS-intronENST00000509063ENST00000473258ALBchr4

74283386

+COL6A3chr2

238283283

-
Frame-shiftENST00000295897ENST00000295550ALBchr4

74283386

+COL6A3chr2

238283283

-
Frame-shiftENST00000295897ENST00000346358ALBchr4

74283386

+COL6A3chr2

238283283

-
Frame-shiftENST00000295897ENST00000347401ALBchr4

74283386

+COL6A3chr2

238283283

-
Frame-shiftENST00000295897ENST00000353578ALBchr4

74283386

+COL6A3chr2

238283283

-
Frame-shiftENST00000295897ENST00000392003ALBchr4

74283386

+COL6A3chr2

238283283

-
Frame-shiftENST00000295897ENST00000392004ALBchr4

74283386

+COL6A3chr2

238283283

-
Frame-shiftENST00000295897ENST00000409809ALBchr4

74283386

+COL6A3chr2

238283283

-
Frame-shiftENST00000295897ENST00000472056ALBchr4

74283386

+COL6A3chr2

238283283

-
Frame-shiftENST00000401494ENST00000295550ALBchr4

74283386

+COL6A3chr2

238283283

-
Frame-shiftENST00000401494ENST00000346358ALBchr4

74283386

+COL6A3chr2

238283283

-
Frame-shiftENST00000401494ENST00000347401ALBchr4

74283386

+COL6A3chr2

238283283

-
Frame-shiftENST00000401494ENST00000353578ALBchr4

74283386

+COL6A3chr2

238283283

-
Frame-shiftENST00000401494ENST00000392003ALBchr4

74283386

+COL6A3chr2

238283283

-
Frame-shiftENST00000401494ENST00000392004ALBchr4

74283386

+COL6A3chr2

238283283

-
Frame-shiftENST00000401494ENST00000409809ALBchr4

74283386

+COL6A3chr2

238283283

-
Frame-shiftENST00000401494ENST00000472056ALBchr4

74283386

+COL6A3chr2

238283283

-
Frame-shiftENST00000415165ENST00000295550ALBchr4

74283386

+COL6A3chr2

238283283

-
Frame-shiftENST00000415165ENST00000346358ALBchr4

74283386

+COL6A3chr2

238283283

-
Frame-shiftENST00000415165ENST00000347401ALBchr4

74283386

+COL6A3chr2

238283283

-
Frame-shiftENST00000415165ENST00000353578ALBchr4

74283386

+COL6A3chr2

238283283

-
Frame-shiftENST00000415165ENST00000392003ALBchr4

74283386

+COL6A3chr2

238283283

-
Frame-shiftENST00000415165ENST00000392004ALBchr4

74283386

+COL6A3chr2

238283283

-
Frame-shiftENST00000415165ENST00000409809ALBchr4

74283386

+COL6A3chr2

238283283

-
Frame-shiftENST00000415165ENST00000472056ALBchr4

74283386

+COL6A3chr2

238283283

-
Frame-shiftENST00000503124ENST00000295550ALBchr4

74283386

+COL6A3chr2

238283283

-
Frame-shiftENST00000503124ENST00000346358ALBchr4

74283386

+COL6A3chr2

238283283

-
Frame-shiftENST00000503124ENST00000347401ALBchr4

74283386

+COL6A3chr2

238283283

-
Frame-shiftENST00000503124ENST00000353578ALBchr4

74283386

+COL6A3chr2

238283283

-
Frame-shiftENST00000503124ENST00000392003ALBchr4

74283386

+COL6A3chr2

238283283

-
Frame-shiftENST00000503124ENST00000392004ALBchr4

74283386

+COL6A3chr2

238283283

-
Frame-shiftENST00000503124ENST00000409809ALBchr4

74283386

+COL6A3chr2

238283283

-
Frame-shiftENST00000503124ENST00000472056ALBchr4

74283386

+COL6A3chr2

238283283

-
Frame-shiftENST00000509063ENST00000295550ALBchr4

74283386

+COL6A3chr2

238283283

-
Frame-shiftENST00000509063ENST00000346358ALBchr4

74283386

+COL6A3chr2

238283283

-
Frame-shiftENST00000509063ENST00000347401ALBchr4

74283386

+COL6A3chr2

238283283

-
Frame-shiftENST00000509063ENST00000353578ALBchr4

74283386

+COL6A3chr2

238283283

-
Frame-shiftENST00000509063ENST00000392003ALBchr4

74283386

+COL6A3chr2

238283283

-
Frame-shiftENST00000509063ENST00000392004ALBchr4

74283386

+COL6A3chr2

238283283

-
Frame-shiftENST00000509063ENST00000409809ALBchr4

74283386

+COL6A3chr2

238283283

-
Frame-shiftENST00000509063ENST00000472056ALBchr4

74283386

+COL6A3chr2

238283283

-
intron-3CDSENST00000505649ENST00000295550ALBchr4

74283386

+COL6A3chr2

238283283

-
intron-3CDSENST00000505649ENST00000346358ALBchr4

74283386

+COL6A3chr2

238283283

-
intron-3CDSENST00000505649ENST00000347401ALBchr4

74283386

+COL6A3chr2

238283283

-
intron-3CDSENST00000505649ENST00000353578ALBchr4

74283386

+COL6A3chr2

238283283

-
intron-3CDSENST00000505649ENST00000392003ALBchr4

74283386

+COL6A3chr2

238283283

-
intron-3CDSENST00000505649ENST00000392004ALBchr4

74283386

+COL6A3chr2

238283283

-
intron-3CDSENST00000505649ENST00000409809ALBchr4

74283386

+COL6A3chr2

238283283

-
intron-3CDSENST00000505649ENST00000472056ALBchr4

74283386

+COL6A3chr2

238283283

-
intron-intronENST00000505649ENST00000473258ALBchr4

74283386

+COL6A3chr2

238283283

-

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 ALB-COL6A3


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.

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Fusion Protein Features for ALB-COL6A3


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/:74283386/:238283283)
- 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
ALB

P02768

COL6A3

P12111

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}.FUNCTION: Collagen VI acts as a cell-binding protein.

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 ALB-COL6A3


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 ALB-COL6A3


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 ALB-COL6A3


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 ALB-COL6A3


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