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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:CASP3-ITGB6 (FusionGDB2 ID:13219)

Fusion Gene Summary for CASP3-ITGB6

check button Fusion gene summary
Fusion gene informationFusion gene name: CASP3-ITGB6
Fusion gene ID: 13219
HgeneTgene
Gene symbol

CASP3

ITGB6

Gene ID

836

3694

Gene namecaspase 3integrin subunit beta 6
SynonymsCPP32|CPP32B|SCA-1AI1H
Cytomap

4q35.1

2q24.2

Type of geneprotein-codingprotein-coding
Descriptioncaspase-3CASP-3CPP-32PARP cleavage proteaseSREBP cleavage activity 1apopaincaspase 3, apoptosis-related cysteine peptidasecaspase 3, apoptosis-related cysteine proteasecysteine protease CPP32procaspase3protein Yamaintegrin beta-6integrin, beta 6
Modification date2020032920200313
UniProtAcc

P42574

P18564

Ensembl transtripts involved in fusion geneENST00000308394, ENST00000393585, 
ENST00000393588, ENST00000517513, 
ENST00000523916, 		ENST00000283249, 
ENST00000409872, ENST00000409967, 
ENST00000428609, ENST00000485635, 
Fusion gene scores* DoF score2 X 2 X 2=88 X 6 X 8=384
# samples 210
** MAII scorelog2(2/8*10)=1.32192809488736log2(10/384*10)=-1.94110631094643
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CASP3 [Title/Abstract] AND ITGB6 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCASP3(185556472)-ITGB6(160966909), # 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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneCASP3

GO:0006508

proteolysis

12888622|17553422

HgeneCASP3

GO:0030218

erythrocyte differentiation

17167422

HgeneCASP3

GO:0031647

regulation of protein stability

17553422

HgeneCASP3

GO:0048011

neurotrophin TRK receptor signaling pathway

23954828

HgeneCASP3

GO:0097194

execution phase of apoptosis

8689682

HgeneCASP3

GO:1902004

positive regulation of amyloid-beta formation

17553422

TgeneITGB6

GO:0033627

cell adhesion mediated by integrin

17158881

TgeneITGB6

GO:1901388

regulation of transforming growth factor beta activation

22278742


check buttonFusion gene breakpoints across CASP3 (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 ITGB6 (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/ABM149933CASP3chr4

185556472

-ITGB6chr2

160966909

+


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Fusion Gene ORF analysis for CASP3-ITGB6

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
intron-intronENST00000308394ENST00000283249CASP3chr4

185556472

-ITGB6chr2

160966909

+
intron-intronENST00000308394ENST00000409872CASP3chr4

185556472

-ITGB6chr2

160966909

+
intron-intronENST00000308394ENST00000409967CASP3chr4

185556472

-ITGB6chr2

160966909

+
intron-intronENST00000308394ENST00000428609CASP3chr4

185556472

-ITGB6chr2

160966909

+
intron-intronENST00000308394ENST00000485635CASP3chr4

185556472

-ITGB6chr2

160966909

+
intron-intronENST00000393585ENST00000283249CASP3chr4

185556472

-ITGB6chr2

160966909

+
intron-intronENST00000393585ENST00000409872CASP3chr4

185556472

-ITGB6chr2

160966909

+
intron-intronENST00000393585ENST00000409967CASP3chr4

185556472

-ITGB6chr2

160966909

+
intron-intronENST00000393585ENST00000428609CASP3chr4

185556472

-ITGB6chr2

160966909

+
intron-intronENST00000393585ENST00000485635CASP3chr4

185556472

-ITGB6chr2

160966909

+
intron-intronENST00000393588ENST00000283249CASP3chr4

185556472

-ITGB6chr2

160966909

+
intron-intronENST00000393588ENST00000409872CASP3chr4

185556472

-ITGB6chr2

160966909

+
intron-intronENST00000393588ENST00000409967CASP3chr4

185556472

-ITGB6chr2

160966909

+
intron-intronENST00000393588ENST00000428609CASP3chr4

185556472

-ITGB6chr2

160966909

+
intron-intronENST00000393588ENST00000485635CASP3chr4

185556472

-ITGB6chr2

160966909

+
intron-intronENST00000517513ENST00000283249CASP3chr4

185556472

-ITGB6chr2

160966909

+
intron-intronENST00000517513ENST00000409872CASP3chr4

185556472

-ITGB6chr2

160966909

+
intron-intronENST00000517513ENST00000409967CASP3chr4

185556472

-ITGB6chr2

160966909

+
intron-intronENST00000517513ENST00000428609CASP3chr4

185556472

-ITGB6chr2

160966909

+
intron-intronENST00000517513ENST00000485635CASP3chr4

185556472

-ITGB6chr2

160966909

+
intron-intronENST00000523916ENST00000283249CASP3chr4

185556472

-ITGB6chr2

160966909

+
intron-intronENST00000523916ENST00000409872CASP3chr4

185556472

-ITGB6chr2

160966909

+
intron-intronENST00000523916ENST00000409967CASP3chr4

185556472

-ITGB6chr2

160966909

+
intron-intronENST00000523916ENST00000428609CASP3chr4

185556472

-ITGB6chr2

160966909

+
intron-intronENST00000523916ENST00000485635CASP3chr4

185556472

-ITGB6chr2

160966909

+

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 CASP3-ITGB6


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 CASP3-ITGB6


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/:185556472/:160966909)
- 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
CASP3

P42574

ITGB6

P18564

FUNCTION: Involved in the activation cascade of caspases responsible for apoptosis execution (PubMed:7596430). At the onset of apoptosis it proteolytically cleaves poly(ADP-ribose) polymerase (PARP) at a '216-Asp-|-Gly-217' bond (PubMed:7774019). Cleaves and activates sterol regulatory element binding proteins (SREBPs) between the basic helix-loop-helix leucine zipper domain and the membrane attachment domain. Cleaves and activates caspase-6, -7 and -9 (PubMed:7596430). Involved in the cleavage of huntingtin (PubMed:8696339). Triggers cell adhesion in sympathetic neurons through RET cleavage (PubMed:21357690). Cleaves and inhibits serine/threonine-protein kinase AKT1 in response to oxidative stress (PubMed:23152800). {ECO:0000269|PubMed:21357690, ECO:0000269|PubMed:23152800, ECO:0000269|PubMed:7596430, ECO:0000269|PubMed:7774019, ECO:0000269|PubMed:8696339}.FUNCTION: Integrin alpha-V:beta-6 (ITGAV:ITGB6) is a receptor for fibronectin and cytotactin (PubMed:17545607, PubMed:17158881). It recognizes the sequence R-G-D in its ligands (PubMed:17545607, PubMed:17158881). Internalisation of integrin alpha-V/beta-6 via clathrin-mediated endocytosis promotes carcinoma cell invasion (PubMed:17545607, PubMed:17158881). ITGAV:ITGB6 acts as a receptor for fibrillin-1 (FBN1) and mediates R-G-D-dependent cell adhesion to FBN1 (PubMed:17158881). Integrin alpha-V:beta-6 (ITGAV:ITGB6) mediates R-G-D-dependent release of transforming growth factor beta-1 (TGF-beta-1) from regulatory Latency-associated peptide (LAP), thereby playing a key role in TGF-beta-1 activation (PubMed:15184403, PubMed:22278742, PubMed:28117447). {ECO:0000269|PubMed:15184403, ECO:0000269|PubMed:17158881, ECO:0000269|PubMed:17545607, ECO:0000269|PubMed:22278742, ECO:0000269|PubMed:28117447}.; FUNCTION: (Microbial infection) Integrin ITGAV:ITGB6 acts as a receptor for Coxsackievirus A9 and Coxsackievirus B1. {ECO:0000269|PubMed:15194773, ECO:0000269|PubMed:9426447}.; FUNCTION: (Microbial infection) Integrin ITGAV:ITGB6 acts as a receptor for Herpes simplex virus-1/HHV-1 (PubMed:24367260). {ECO:0000269|PubMed:24367260}.

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 CASP3-ITGB6


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 CASP3-ITGB6


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 CASP3-ITGB6


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 CASP3-ITGB6


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