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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:HG836TG3694)

Fusion Gene Summary for CASP3-ITGB6

check button Fusion gene summary
Fusion gene informationFusion gene name: CASP3-ITGB6
Fusion gene ID: hg836tg3694
HgeneTgene
Gene symbol

CASP3

ITGB6

Gene ID

836

3694

Gene namecaspase 3integrin subunit beta 6
SynonymsCPP32|CPP32B|SCA-1AI1H
Cytomap('CASP3')('ITGB6')

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.

P18564

Ensembl transtripts involved in fusion geneENST00000308394, ENST00000393585, 
ENST00000393588, ENST00000517513, 
ENST00000523916, 
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 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)


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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
.ITGB6

P18564

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: 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
HgeneCASP3C0007786Brain Ischemia2CTD_human
HgeneCASP3C0038220Status Epilepticus2CTD_human
HgeneCASP3C0270823Petit mal status2CTD_human
HgeneCASP3C0311335Grand Mal Status Epilepticus2CTD_human
HgeneCASP3C0393734Complex Partial Status Epilepticus2CTD_human
HgeneCASP3C0751522Status Epilepticus, Subclinical2CTD_human
HgeneCASP3C0751523Non-Convulsive Status Epilepticus2CTD_human
HgeneCASP3C0751524Simple Partial Status Epilepticus2CTD_human
HgeneCASP3C0917798Cerebral Ischemia2CTD_human
HgeneCASP3C0002152Alloxan Diabetes1CTD_human
HgeneCASP3C0002395Alzheimer's Disease1CTD_human
HgeneCASP3C0006663Calcinosis1CTD_human
HgeneCASP3C0009324Ulcerative Colitis1CTD_human
HgeneCASP3C0010417Cryptorchidism1CTD_human
HgeneCASP3C0011265Presenile dementia1CTD_human
HgeneCASP3C0011853Diabetes Mellitus, Experimental1CTD_human
HgeneCASP3C0011860Diabetes Mellitus, Non-Insulin-Dependent1CTD_human
HgeneCASP3C0011875Diabetic Angiopathies1CTD_human
HgeneCASP3C0011882Diabetic Neuropathies1CTD_human
HgeneCASP3C0011884Diabetic Retinopathy1CTD_human
HgeneCASP3C0013604Edema1CTD_human
HgeneCASP3C0014476Eperythrozoonosis1CTD_human
HgeneCASP3C0018824Heart valve disease1CTD_human
HgeneCASP3C0019189Hepatitis, Chronic1CTD_human
HgeneCASP3C0025945Microangiopathy, Diabetic1CTD_human
HgeneCASP3C0026936Mycoplasma Infections1CTD_human
HgeneCASP3C0027051Myocardial Infarction1CTD_human
HgeneCASP3C0027055Myocardial Reperfusion Injury1CTD_human
HgeneCASP3C0027746Nerve Degeneration1CTD_human
HgeneCASP3C0027765nervous system disorder1CTD_human
HgeneCASP3C0034189Pyemia1CTD_human
HgeneCASP3C0035126Reperfusion Injury1CTD_human
HgeneCASP3C0035305Retinal Detachment1CTD_human
HgeneCASP3C0036341Schizophrenia1PSYGENET
HgeneCASP3C0036690Septicemia1CTD_human
HgeneCASP3C0038433Streptozotocin Diabetes1CTD_human
HgeneCASP3C0038525Subarachnoid Hemorrhage1CTD_human
HgeneCASP3C0149504Encephalopathy, Toxic1CTD_human
HgeneCASP3C0149519Chronic Persistent Hepatitis1CTD_human
HgeneCASP3C0151603Anasarca1CTD_human
HgeneCASP3C0154659Toxic Encephalitis1CTD_human
HgeneCASP3C0235032Neurotoxicity Syndromes1CTD_human
HgeneCASP3C0243026Sepsis1CTD_human
HgeneCASP3C0263628Tumoral calcinosis1CTD_human
HgeneCASP3C0270192Perinatal Subarachnoid Hemorrhage1CTD_human
HgeneCASP3C0271673Symmetric Diabetic Proximal Motor Neuropathy1CTD_human
HgeneCASP3C0271674Asymmetric Diabetic Proximal Motor Neuropathy1CTD_human
HgeneCASP3C0271678Diabetic Mononeuropathy1CTD_human
HgeneCASP3C0271680Diabetic Polyneuropathies1CTD_human
HgeneCASP3C0271685Diabetic Amyotrophy1CTD_human
HgeneCASP3C0271686Diabetic Autonomic Neuropathy1CTD_human
HgeneCASP3C0276496Familial Alzheimer Disease (FAD)1CTD_human
HgeneCASP3C0339546Retinal Pigment Epithelial Detachment1CTD_human
HgeneCASP3C0393835Diabetic Asymmetric Polyneuropathy1CTD_human
HgeneCASP3C0431663Bilateral Cryptorchidism1CTD_human
HgeneCASP3C0431664Unilateral Cryptorchidism1CTD_human
HgeneCASP3C0472383Subarachnoid Hemorrhage, Spontaneous1CTD_human
HgeneCASP3C0494463Alzheimer Disease, Late Onset1CTD_human
HgeneCASP3C0520463Chronic active hepatitis1CTD_human
HgeneCASP3C0521174Microcalcification1CTD_human
HgeneCASP3C0524611Cryptogenic Chronic Hepatitis1CTD_human
HgeneCASP3C0546126Acute Confusional Senile Dementia1CTD_human
HgeneCASP3C0750900Alzheimer's Disease, Focal Onset1CTD_human
HgeneCASP3C0750901Alzheimer Disease, Early Onset1CTD_human
HgeneCASP3C0751074Diabetic Neuralgia1CTD_human
HgeneCASP3C0751530Subarachnoid Hemorrhage, Aneurysmal1CTD_human
HgeneCASP3C0795688Subarachnoid Hemorrhage, Intracranial1CTD_human
HgeneCASP3C1563730Abdominal Cryptorchidism1CTD_human
HgeneCASP3C1563731Inguinal Cryptorchidism1CTD_human
HgeneCASP3C1719672Severe Sepsis1CTD_human
HgeneCASP3C1876165Copper-Overload Cirrhosis1CTD_human
HgeneCASP3C2937358Cerebral Hemorrhage1CTD_human
TgeneC4015557AMELOGENESIS IMPERFECTA, TYPE IH3CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneC0000786Spontaneous abortion1CTD_human
TgeneC0000822Abortion, Tubal1CTD_human
TgeneC0004364Autoimmune Diseases1CTD_human
TgeneC0008311Cholangitis1CTD_human
TgeneC0023893Liver Cirrhosis, Experimental1CTD_human
TgeneC0023895Liver diseases1CTD_human
TgeneC0034067Pulmonary Emphysema1CTD_human
TgeneC0086565Liver Dysfunction1CTD_human
TgeneC0221227Centriacinar Emphysema1CTD_human
TgeneC0264393Panacinar Emphysema1CTD_human
TgeneC0399367Amelogenesis imperfecta local hypoplastic form1ORPHANET
TgeneC0399376Amelogenesis Imperfecta, Type III1ORPHANET
TgeneC0524910Hepatitis C, Chronic1CTD_human
TgeneC2350878Focal Emphysema1CTD_human
TgeneC2931280Perniola Krajewska Carnevale syndrome1ORPHANET
TgeneC3830362Early Pregnancy Loss1CTD_human
TgeneC4552766Miscarriage1CTD_human