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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:CASP2-ADAR (FusionGDB2 ID:HG835TG103)

Fusion Gene Summary for CASP2-ADAR

check button Fusion gene summary
Fusion gene informationFusion gene name: CASP2-ADAR
Fusion gene ID: hg835tg103
HgeneTgene
Gene symbol

CASP2

ADAR

Gene ID

835

103

Gene namecaspase 2adenosine deaminase RNA specific
SynonymsCASP-2|ICH1|NEDD-2|NEDD2|PPP1R57ADAR1|AGS6|DRADA|DSH|DSRAD|G1P1|IFI-4|IFI4|K88DSRBP|P136
Cytomap('CASP2')('ADAR')

7q34

1q21.3

Type of geneprotein-codingprotein-coding
Descriptioncaspase-2caspase 2 apoptosis-related cysteine peptidaseneural precursor cell expressed developmentally down-regulated protein 2protease ICH-1protein phosphatase 1, regulatory subunit 57double-stranded RNA-specific adenosine deaminase136 kDa double-stranded RNA-binding proteinadenosine deaminase acting on RNA 1-AdsRNA adenosine deaminasedsRNA adeonosine deaminaseinterferon-induced protein 4interferon-inducible protein 4
Modification date2020031320200320
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000310447, ENST00000392925, 
ENST00000493642, 
Fusion gene scores* DoF score3 X 5 X 2=3010 X 10 X 4=400
# samples 510
** MAII scorelog2(5/30*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(10/400*10)=-2
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CASP2 [Title/Abstract] AND ADAR [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCASP2(143003096)-ADAR(154562313), # 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
HgeneCASP2

GO:0016485

protein processing

9044836

HgeneCASP2

GO:0043065

positive regulation of apoptotic process

10980123

TgeneADAR

GO:0006382

adenosine to inosine editing

15858013|19651874|21289159

TgeneADAR

GO:0016553

base conversion or substitution editing

9020165

TgeneADAR

GO:0031054

pre-miRNA processing

23622242

TgeneADAR

GO:0035280

miRNA loading onto RISC involved in gene silencing by miRNA

23622242

TgeneADAR

GO:0035455

response to interferon-alpha

16475990

TgeneADAR

GO:0044387

negative regulation of protein kinase activity by regulation of protein phosphorylation

19651874

TgeneADAR

GO:0045070

positive regulation of viral genome replication

19651874



check button Fusion gene information
* 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


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Fusion Gene ORF analysis for CASP2-ADAR

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

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 CASP2-ADAR


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 CASP2-ADAR


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/:143003096/:154562313)
- 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
..
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: 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}.

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 CASP2-ADAR


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 CASP2-ADAR


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 CASP2-ADAR


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 CASP2-ADAR


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCASP2C0007134Renal Cell Carcinoma1CTD_human
HgeneCASP2C0020796Profound Mental Retardation1CTD_human
HgeneCASP2C0025363Mental Retardation, Psychosocial1CTD_human
HgeneCASP2C0279702Conventional (Clear Cell) Renal Cell Carcinoma1CTD_human
HgeneCASP2C0917816Mental deficiency1CTD_human
HgeneCASP2C1266042Chromophobe Renal Cell Carcinoma1CTD_human
HgeneCASP2C1266043Sarcomatoid Renal Cell Carcinoma1CTD_human
HgeneCASP2C1266044Collecting Duct Carcinoma of the Kidney1CTD_human
HgeneCASP2C1306837Papillary Renal Cell Carcinoma1CTD_human
HgeneCASP2C3714756Intellectual Disability1CTD_human
TgeneC3539013AICARDI-GOUTIERES SYNDROME 66GENOMICS_ENGLAND;UNIPROT
TgeneC0406775Symmetrical dyschromatosis of extremities5CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneC0013421Dystonia3GENOMICS_ENGLAND
TgeneC0006142Malignant neoplasm of breast1CTD_human;UNIPROT
TgeneC0393591AICARDI-GOUTIERES SYNDROME1CTD_human;GENOMICS_ENGLAND;ORPHANET
TgeneC0678222Breast Carcinoma1CTD_human
TgeneC0795996STRIATONIGRAL DEGENERATION, INFANTILE (disorder)1ORPHANET
TgeneC0796126AICARDI-GOUTIERES SYNDROME 11CTD_human
TgeneC1257931Mammary Neoplasms, Human1CTD_human
TgeneC1458155Mammary Neoplasms1CTD_human
TgeneC3489724Aicardi-Goutieres Syndrome 21CTD_human
TgeneC3489725Pseudo-TORCH syndrome1CTD_human
TgeneC3860213Autoinflammatory disorder1GENOMICS_ENGLAND
TgeneC4704874Mammary Carcinoma, Human1CTD_human