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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:CFLAR-AOX2P (FusionGDB2 ID:HG8837TG344454)

Fusion Gene Summary for CFLAR-AOX2P

check button Fusion gene summary
Fusion gene informationFusion gene name: CFLAR-AOX2P
Fusion gene ID: hg8837tg344454
HgeneTgene
Gene symbol

CFLAR

AOX2P

Gene ID

8837

344454

Gene nameCASP8 and FADD like apoptosis regulator
SynonymsCASH|CASP8AP1|CLARP|Casper|FLAME|FLAME-1|FLAME1|FLIP|I-FLICE|MRIT|c-FLIP|c-FLIPL|c-FLIPR|c-FLIPS|cFLIP
Cytomap('CFLAR')('AOX2P')

2q33.1

Type of geneprotein-coding
DescriptionCASP8 and FADD-like apoptosis regulatorFADD-like antiapoptotic molecule 1MACH-related inducer of toxicitycaspase homologcaspase-eight-related proteincaspase-like apoptosis regulatory proteincaspase-related inducer of apoptosiscellular FLICE-like in
Modification date20200322
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000309955, ENST00000340870, 
ENST00000341222, ENST00000341582, 
ENST00000342795, ENST00000355558, 
ENST00000395148, ENST00000423241, 
ENST00000440180, ENST00000443227, 
ENST00000457277, ENST00000479953, 
ENST00000494258, ENST00000490965, 
Fusion gene scores* DoF score9 X 10 X 9=8102 X 3 X 2=12
# samples 122
** MAII scorelog2(12/810*10)=-2.75488750216347
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(2/12*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: CFLAR [Title/Abstract] AND AOX2P [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCFLAR(201997857)-AOX2P(201645370), # samples:1
CFLAR(201997857)-AOX2P(201642472), # 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
HgeneCFLAR

GO:0060544

regulation of necroptotic process

21737330

HgeneCFLAR

GO:1902042

negative regulation of extrinsic apoptotic signaling pathway via death domain receptors

26582200

HgeneCFLAR

GO:2001237

negative regulation of extrinsic apoptotic signaling pathway

9208847



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
ChimerDB4OVTCGA-13-1495-01ACFLARchr2

201997857

+AOX2Pchr2

201642472

+
ChimerDB4OVTCGA-13-1495-01ACFLARchr2

201997857

+AOX2Pchr2

201645370

+


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Fusion Gene ORF analysis for CFLAR-AOX2P

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-3UTRENST00000309955ENST00000467645CFLARchr2

201997857

+AOX2Pchr2

201642472

+
5CDS-3UTRENST00000309955ENST00000467645CFLARchr2

201997857

+AOX2Pchr2

201645370

+
5CDS-3UTRENST00000340870ENST00000467645CFLARchr2

201997857

+AOX2Pchr2

201642472

+
5CDS-3UTRENST00000340870ENST00000467645CFLARchr2

201997857

+AOX2Pchr2

201645370

+
5CDS-3UTRENST00000341222ENST00000467645CFLARchr2

201997857

+AOX2Pchr2

201642472

+
5CDS-3UTRENST00000341222ENST00000467645CFLARchr2

201997857

+AOX2Pchr2

201645370

+
5CDS-3UTRENST00000341582ENST00000467645CFLARchr2

201997857

+AOX2Pchr2

201642472

+
5CDS-3UTRENST00000341582ENST00000467645CFLARchr2

201997857

+AOX2Pchr2

201645370

+
5CDS-3UTRENST00000342795ENST00000467645CFLARchr2

201997857

+AOX2Pchr2

201642472

+
5CDS-3UTRENST00000342795ENST00000467645CFLARchr2

201997857

+AOX2Pchr2

201645370

+
5CDS-3UTRENST00000355558ENST00000467645CFLARchr2

201997857

+AOX2Pchr2

201642472

+
5CDS-3UTRENST00000355558ENST00000467645CFLARchr2

201997857

+AOX2Pchr2

201645370

+
5CDS-3UTRENST00000395148ENST00000467645CFLARchr2

201997857

+AOX2Pchr2

201642472

+
5CDS-3UTRENST00000395148ENST00000467645CFLARchr2

201997857

+AOX2Pchr2

201645370

+
5CDS-3UTRENST00000423241ENST00000467645CFLARchr2

201997857

+AOX2Pchr2

201642472

+
5CDS-3UTRENST00000423241ENST00000467645CFLARchr2

201997857

+AOX2Pchr2

201645370

+
5CDS-3UTRENST00000440180ENST00000467645CFLARchr2

201997857

+AOX2Pchr2

201642472

+
5CDS-3UTRENST00000440180ENST00000467645CFLARchr2

201997857

+AOX2Pchr2

201645370

+
5CDS-3UTRENST00000443227ENST00000467645CFLARchr2

201997857

+AOX2Pchr2

201642472

+
5CDS-3UTRENST00000443227ENST00000467645CFLARchr2

201997857

+AOX2Pchr2

201645370

+
5CDS-3UTRENST00000457277ENST00000467645CFLARchr2

201997857

+AOX2Pchr2

201642472

+
5CDS-3UTRENST00000457277ENST00000467645CFLARchr2

201997857

+AOX2Pchr2

201645370

+
5CDS-3UTRENST00000479953ENST00000467645CFLARchr2

201997857

+AOX2Pchr2

201642472

+
5CDS-3UTRENST00000479953ENST00000467645CFLARchr2

201997857

+AOX2Pchr2

201645370

+
5CDS-3UTRENST00000494258ENST00000467645CFLARchr2

201997857

+AOX2Pchr2

201642472

+
5CDS-3UTRENST00000494258ENST00000467645CFLARchr2

201997857

+AOX2Pchr2

201645370

+
intron-3UTRENST00000490965ENST00000467645CFLARchr2

201997857

+AOX2Pchr2

201642472

+
intron-3UTRENST00000490965ENST00000467645CFLARchr2

201997857

+AOX2Pchr2

201645370

+

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 CFLAR-AOX2P


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)
CFLARchr2201997857+AOX2Pchr2201642471+1.01E-050.99998987
CFLARchr2201997857+AOX2Pchr2201645369+7.77E-060.99999225
CFLARchr2201997857+AOX2Pchr2201642471+1.01E-050.99998987
CFLARchr2201997857+AOX2Pchr2201645369+7.77E-060.99999225


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.
genomic feature of top 1%

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Fusion Protein Features for CFLAR-AOX2P


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/:201997857/:201645370)
- 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 CFLAR-AOX2P


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 CFLAR-AOX2P


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 CFLAR-AOX2P


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 CFLAR-AOX2P


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCFLARC0019829Hodgkin Disease1CTD_human
HgeneCFLARC0023418leukemia1CTD_human
HgeneCFLARC0030297Pancreatic Neoplasm1CTD_human
HgeneCFLARC0152266Mixed Cellularity Hodgkin Lymphoma1CTD_human
HgeneCFLARC0152267Hodgkin lymphoma, lymphocyte depletion1CTD_human
HgeneCFLARC0220597Adult Hodgkin Lymphoma1CTD_human
HgeneCFLARC0346647Malignant neoplasm of pancreas1CTD_human
HgeneCFLARC0392788Nasal Type Extranodal NK/T-Cell Lymphoma1CTD_human
HgeneCFLARC1266194Lymphocyte Rich Classical Hodgkin Lymphoma1CTD_human
HgeneCFLARC1334968Nodular Lymphocyte Predominant Hodgkin Lymphoma1CTD_human
HgeneCFLARC1955906Lymphoma, Extranodal NK-T-Cell1CTD_human
HgeneCFLARC2713368Hematopoetic Myelodysplasia1CTD_human
HgeneCFLARC3463824MYELODYSPLASTIC SYNDROME1CTD_human