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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:CASP8-TTLL7 (FusionGDB2 ID:HG841TG79739)

Fusion Gene Summary for CASP8-TTLL7

check button Fusion gene summary
Fusion gene informationFusion gene name: CASP8-TTLL7
Fusion gene ID: hg841tg79739
HgeneTgene
Gene symbol

CASP8

TTLL7

Gene ID

841

79739

Gene namecaspase 8tubulin tyrosine ligase like 7
SynonymsALPS2B|CAP4|Casp-8|FLICE|MACH|MCH5-
Cytomap('CASP8')('TTLL7')

2q33.1

1p31.1

Type of geneprotein-codingprotein-coding
Descriptioncaspase-8FADD-homologous ICE/CED-3-like proteaseFADD-like ICEICE-like apoptotic protease 5MACH-alpha-1/2/3 proteinMACH-beta-1/2/3/4 proteinMORT1-associated ced-3 homologapoptotic cysteine proteaseapoptotic protease Mch-5caspase 8, apoptosis-relattubulin polyglutamylase TTLL7testis development protein NYD-SP30tubulin tyrosine ligase-like family, member 7tubulin--tyrosine ligase-like protein 7
Modification date2020032220200320
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000490682, ENST00000264274, 
ENST00000264275, ENST00000392258, 
ENST00000392259, ENST00000392266, 
ENST00000432109, ENST00000323492, 
ENST00000358485, 
Fusion gene scores* DoF score10 X 7 X 10=7003 X 3 X 2=18
# samples 123
** MAII scorelog2(12/700*10)=-2.54432051622381
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: CASP8 [Title/Abstract] AND TTLL7 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCASP8(202098835)-TTLL7(84335765), # samples:3
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
HgeneCASP8

GO:0006508

proteolysis

12888622

HgeneCASP8

GO:0036462

TRAIL-activated apoptotic signaling pathway

21785459

HgeneCASP8

GO:0045862

positive regulation of proteolysis

18387192

HgeneCASP8

GO:0097191

extrinsic apoptotic signaling pathway

21785459

HgeneCASP8

GO:0097202

activation of cysteine-type endopeptidase activity

18387192

TgeneTTLL7

GO:0018095

protein polyglutamylation

25959773



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
ChimerDB4LUSCTCGA-66-2727-01ACASP8chr2

202098835

+TTLL7chr1

84335765

-
ChimerDB4LUSCTCGA-66-2727CASP8chr2

202098835

+TTLL7chr1

84335765

-


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Fusion Gene ORF analysis for CASP8-TTLL7

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
3UTR-intronENST00000490682ENST00000260505CASP8chr2

202098835

+TTLL7chr1

84335765

-
3UTR-intronENST00000490682ENST00000477524CASP8chr2

202098835

+TTLL7chr1

84335765

-
5UTR-intronENST00000264274ENST00000260505CASP8chr2

202098835

+TTLL7chr1

84335765

-
5UTR-intronENST00000264274ENST00000477524CASP8chr2

202098835

+TTLL7chr1

84335765

-
5UTR-intronENST00000264275ENST00000260505CASP8chr2

202098835

+TTLL7chr1

84335765

-
5UTR-intronENST00000264275ENST00000477524CASP8chr2

202098835

+TTLL7chr1

84335765

-
5UTR-intronENST00000392258ENST00000260505CASP8chr2

202098835

+TTLL7chr1

84335765

-
5UTR-intronENST00000392258ENST00000477524CASP8chr2

202098835

+TTLL7chr1

84335765

-
5UTR-intronENST00000392259ENST00000260505CASP8chr2

202098835

+TTLL7chr1

84335765

-
5UTR-intronENST00000392259ENST00000477524CASP8chr2

202098835

+TTLL7chr1

84335765

-
5UTR-intronENST00000392266ENST00000260505CASP8chr2

202098835

+TTLL7chr1

84335765

-
5UTR-intronENST00000392266ENST00000477524CASP8chr2

202098835

+TTLL7chr1

84335765

-
5UTR-intronENST00000432109ENST00000260505CASP8chr2

202098835

+TTLL7chr1

84335765

-
5UTR-intronENST00000432109ENST00000477524CASP8chr2

202098835

+TTLL7chr1

84335765

-
intron-intronENST00000323492ENST00000260505CASP8chr2

202098835

+TTLL7chr1

84335765

-
intron-intronENST00000323492ENST00000477524CASP8chr2

202098835

+TTLL7chr1

84335765

-
intron-intronENST00000358485ENST00000260505CASP8chr2

202098835

+TTLL7chr1

84335765

-
intron-intronENST00000358485ENST00000477524CASP8chr2

202098835

+TTLL7chr1

84335765

-

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 CASP8-TTLL7


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 CASP8-TTLL7


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/:202098835/:84335765)
- 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 CASP8-TTLL7


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 CASP8-TTLL7


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 CASP8-TTLL7


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 CASP8-TTLL7


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCASP8C0006142Malignant neoplasm of breast4CGI;CTD_human
HgeneCASP8C0678222Breast Carcinoma4CGI;CTD_human
HgeneCASP8C1257931Mammary Neoplasms, Human4CTD_human
HgeneCASP8C1458155Mammary Neoplasms4CTD_human
HgeneCASP8C4704874Mammary Carcinoma, Human4CTD_human
HgeneCASP8C1846545Autoimmune Lymphoproliferative Syndrome Type 2B3CTD_human;ORPHANET;UNIPROT
HgeneCASP8C0014859Esophageal Neoplasms2CTD_human
HgeneCASP8C0025202melanoma2CTD_human
HgeneCASP8C0546837Malignant neoplasm of esophagus2CTD_human
HgeneCASP8C0001418Adenocarcinoma1CTD_human
HgeneCASP8C0005586Bipolar Disorder1PSYGENET
HgeneCASP8C0007114Malignant neoplasm of skin1CTD_human
HgeneCASP8C0007131Non-Small Cell Lung Carcinoma1CTD_human
HgeneCASP8C0007873Uterine Cervical Neoplasm1CTD_human
HgeneCASP8C0009402Colorectal Carcinoma1CTD_human
HgeneCASP8C0009404Colorectal Neoplasms1CTD_human
HgeneCASP8C0011616Contact Dermatitis1CTD_human
HgeneCASP8C0011860Diabetes Mellitus, Non-Insulin-Dependent1CTD_human
HgeneCASP8C0013604Edema1CTD_human
HgeneCASP8C0023452Childhood Acute Lymphoblastic Leukemia1CTD_human
HgeneCASP8C0023453L2 Acute Lymphoblastic Leukemia1CTD_human
HgeneCASP8C0024121Lung Neoplasms1CTD_human
HgeneCASP8C0024623Malignant neoplasm of stomach1CTD_human
HgeneCASP8C0027055Myocardial Reperfusion Injury1CTD_human
HgeneCASP8C0035126Reperfusion Injury1CTD_human
HgeneCASP8C0037286Skin Neoplasms1CTD_human
HgeneCASP8C0038220Status Epilepticus1CTD_human
HgeneCASP8C0038356Stomach Neoplasms1CTD_human
HgeneCASP8C0151603Anasarca1CTD_human
HgeneCASP8C0162351Contact hypersensitivity1CTD_human
HgeneCASP8C0162820Dermatitis, Allergic Contact1CTD_human
HgeneCASP8C0205641Adenocarcinoma, Basal Cell1CTD_human
HgeneCASP8C0205642Adenocarcinoma, Oxyphilic1CTD_human
HgeneCASP8C0205643Carcinoma, Cribriform1CTD_human
HgeneCASP8C0205644Carcinoma, Granular Cell1CTD_human
HgeneCASP8C0205645Adenocarcinoma, Tubular1CTD_human
HgeneCASP8C0242379Malignant neoplasm of lung1CTD_human
HgeneCASP8C0270823Petit mal status1CTD_human
HgeneCASP8C0279607Adult Hepatocellular Carcinoma1ORPHANET
HgeneCASP8C0311335Grand Mal Status Epilepticus1CTD_human
HgeneCASP8C0343641Human papilloma virus infection1CTD_human
HgeneCASP8C0393734Complex Partial Status Epilepticus1CTD_human
HgeneCASP8C0751522Status Epilepticus, Subclinical1CTD_human
HgeneCASP8C0751523Non-Convulsive Status Epilepticus1CTD_human
HgeneCASP8C0751524Simple Partial Status Epilepticus1CTD_human
HgeneCASP8C1168401Squamous cell carcinoma of the head and neck1CTD_human
HgeneCASP8C1708349Hereditary Diffuse Gastric Cancer1CTD_human
HgeneCASP8C1961102Precursor Cell Lymphoblastic Leukemia Lymphoma1CTD_human
HgeneCASP8C2931456Prostate cancer, familial1CTD_human
HgeneCASP8C2937358Cerebral Hemorrhage1CTD_human
HgeneCASP8C4048328cervical cancer1CTD_human
HgeneCASP8C4722327PROSTATE CANCER, HEREDITARY, 11CTD_human