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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:CASP1-TTC6 (FusionGDB2 ID:HG834TG319089)

Fusion Gene Summary for CASP1-TTC6

check button Fusion gene summary
Fusion gene informationFusion gene name: CASP1-TTC6
Fusion gene ID: hg834tg319089
HgeneTgene
Gene symbol

CASP1

TTC6

Gene ID

834

319089

Gene namecaspase 1tetratricopeptide repeat domain 6
SynonymsICE|IL1BC|P45C14orf25|NCRNA00291
Cytomap('CASP1')('TTC6')

11q22.3

14q21.1

Type of geneprotein-codingprotein-coding
Descriptioncaspase-1CASP1 nirs variant 1IL-1 beta-converting enzymeIL1B-convertasecaspase 1, apoptosis-related cysteine peptidaseinterleukin 1, beta, convertaseinterleukin 1-B converting enzymetetratricopeptide repeat protein 6TPR repeat protein 6
Modification date2020032720200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000436863, ENST00000528974, 
ENST00000533400, ENST00000598974, 
ENST00000353247, ENST00000393136, 
ENST00000415981, ENST00000446369, 
ENST00000525825, ENST00000526568, 
ENST00000527979, ENST00000531166, 
ENST00000534497, ENST00000593315, 
ENST00000594519, 
Fusion gene scores* DoF score2 X 2 X 2=812 X 14 X 5=840
# samples 212
** MAII scorelog2(2/8*10)=1.32192809488736log2(12/840*10)=-2.8073549220576
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CASP1 [Title/Abstract] AND TTC6 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCASP1(104903791)-TTC6(38271299), # samples:2
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
HgeneCASP1

GO:0006508

proteolysis

12888622|24548080

HgeneCASP1

GO:0016540

protein autoprocessing

11821383

HgeneCASP1

GO:0050718

positive regulation of interleukin-1 beta secretion

11432859|11821383

HgeneCASP1

GO:0071310

cellular response to organic substance

19158679



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
ChimerDB4HNSCTCGA-F7-8489-01ACASP1chr11

104903791

-TTC6chr14

38271299

+
ChimerDB4HNSCTCGA-F7-8489CASP1chr11

104903791

-TTC6chr14

38271299

+


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Fusion Gene ORF analysis for CASP1-TTC6

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-3UTRENST00000436863ENST00000554555CASP1chr11

104903791

-TTC6chr14

38271299

+
5CDS-3UTRENST00000528974ENST00000554555CASP1chr11

104903791

-TTC6chr14

38271299

+
5CDS-3UTRENST00000533400ENST00000554555CASP1chr11

104903791

-TTC6chr14

38271299

+
5CDS-3UTRENST00000598974ENST00000554555CASP1chr11

104903791

-TTC6chr14

38271299

+
5CDS-intronENST00000436863ENST00000267368CASP1chr11

104903791

-TTC6chr14

38271299

+
5CDS-intronENST00000436863ENST00000382320CASP1chr11

104903791

-TTC6chr14

38271299

+
5CDS-intronENST00000436863ENST00000476979CASP1chr11

104903791

-TTC6chr14

38271299

+
5CDS-intronENST00000436863ENST00000553443CASP1chr11

104903791

-TTC6chr14

38271299

+
5CDS-intronENST00000528974ENST00000267368CASP1chr11

104903791

-TTC6chr14

38271299

+
5CDS-intronENST00000528974ENST00000382320CASP1chr11

104903791

-TTC6chr14

38271299

+
5CDS-intronENST00000528974ENST00000476979CASP1chr11

104903791

-TTC6chr14

38271299

+
5CDS-intronENST00000528974ENST00000553443CASP1chr11

104903791

-TTC6chr14

38271299

+
5CDS-intronENST00000533400ENST00000267368CASP1chr11

104903791

-TTC6chr14

38271299

+
5CDS-intronENST00000533400ENST00000382320CASP1chr11

104903791

-TTC6chr14

38271299

+
5CDS-intronENST00000533400ENST00000476979CASP1chr11

104903791

-TTC6chr14

38271299

+
5CDS-intronENST00000533400ENST00000553443CASP1chr11

104903791

-TTC6chr14

38271299

+
5CDS-intronENST00000598974ENST00000267368CASP1chr11

104903791

-TTC6chr14

38271299

+
5CDS-intronENST00000598974ENST00000382320CASP1chr11

104903791

-TTC6chr14

38271299

+
5CDS-intronENST00000598974ENST00000476979CASP1chr11

104903791

-TTC6chr14

38271299

+
5CDS-intronENST00000598974ENST00000553443CASP1chr11

104903791

-TTC6chr14

38271299

+
intron-3UTRENST00000353247ENST00000554555CASP1chr11

104903791

-TTC6chr14

38271299

+
intron-3UTRENST00000393136ENST00000554555CASP1chr11

104903791

-TTC6chr14

38271299

+
intron-3UTRENST00000415981ENST00000554555CASP1chr11

104903791

-TTC6chr14

38271299

+
intron-3UTRENST00000446369ENST00000554555CASP1chr11

104903791

-TTC6chr14

38271299

+
intron-3UTRENST00000525825ENST00000554555CASP1chr11

104903791

-TTC6chr14

38271299

+
intron-3UTRENST00000526568ENST00000554555CASP1chr11

104903791

-TTC6chr14

38271299

+
intron-3UTRENST00000527979ENST00000554555CASP1chr11

104903791

-TTC6chr14

38271299

+
intron-3UTRENST00000531166ENST00000554555CASP1chr11

104903791

-TTC6chr14

38271299

+
intron-3UTRENST00000534497ENST00000554555CASP1chr11

104903791

-TTC6chr14

38271299

+
intron-3UTRENST00000593315ENST00000554555CASP1chr11

104903791

-TTC6chr14

38271299

+
intron-3UTRENST00000594519ENST00000554555CASP1chr11

104903791

-TTC6chr14

38271299

+
intron-intronENST00000353247ENST00000267368CASP1chr11

104903791

-TTC6chr14

38271299

+
intron-intronENST00000353247ENST00000382320CASP1chr11

104903791

-TTC6chr14

38271299

+
intron-intronENST00000353247ENST00000476979CASP1chr11

104903791

-TTC6chr14

38271299

+
intron-intronENST00000353247ENST00000553443CASP1chr11

104903791

-TTC6chr14

38271299

+
intron-intronENST00000393136ENST00000267368CASP1chr11

104903791

-TTC6chr14

38271299

+
intron-intronENST00000393136ENST00000382320CASP1chr11

104903791

-TTC6chr14

38271299

+
intron-intronENST00000393136ENST00000476979CASP1chr11

104903791

-TTC6chr14

38271299

+
intron-intronENST00000393136ENST00000553443CASP1chr11

104903791

-TTC6chr14

38271299

+
intron-intronENST00000415981ENST00000267368CASP1chr11

104903791

-TTC6chr14

38271299

+
intron-intronENST00000415981ENST00000382320CASP1chr11

104903791

-TTC6chr14

38271299

+
intron-intronENST00000415981ENST00000476979CASP1chr11

104903791

-TTC6chr14

38271299

+
intron-intronENST00000415981ENST00000553443CASP1chr11

104903791

-TTC6chr14

38271299

+
intron-intronENST00000446369ENST00000267368CASP1chr11

104903791

-TTC6chr14

38271299

+
intron-intronENST00000446369ENST00000382320CASP1chr11

104903791

-TTC6chr14

38271299

+
intron-intronENST00000446369ENST00000476979CASP1chr11

104903791

-TTC6chr14

38271299

+
intron-intronENST00000446369ENST00000553443CASP1chr11

104903791

-TTC6chr14

38271299

+
intron-intronENST00000525825ENST00000267368CASP1chr11

104903791

-TTC6chr14

38271299

+
intron-intronENST00000525825ENST00000382320CASP1chr11

104903791

-TTC6chr14

38271299

+
intron-intronENST00000525825ENST00000476979CASP1chr11

104903791

-TTC6chr14

38271299

+
intron-intronENST00000525825ENST00000553443CASP1chr11

104903791

-TTC6chr14

38271299

+
intron-intronENST00000526568ENST00000267368CASP1chr11

104903791

-TTC6chr14

38271299

+
intron-intronENST00000526568ENST00000382320CASP1chr11

104903791

-TTC6chr14

38271299

+
intron-intronENST00000526568ENST00000476979CASP1chr11

104903791

-TTC6chr14

38271299

+
intron-intronENST00000526568ENST00000553443CASP1chr11

104903791

-TTC6chr14

38271299

+
intron-intronENST00000527979ENST00000267368CASP1chr11

104903791

-TTC6chr14

38271299

+
intron-intronENST00000527979ENST00000382320CASP1chr11

104903791

-TTC6chr14

38271299

+
intron-intronENST00000527979ENST00000476979CASP1chr11

104903791

-TTC6chr14

38271299

+
intron-intronENST00000527979ENST00000553443CASP1chr11

104903791

-TTC6chr14

38271299

+
intron-intronENST00000531166ENST00000267368CASP1chr11

104903791

-TTC6chr14

38271299

+
intron-intronENST00000531166ENST00000382320CASP1chr11

104903791

-TTC6chr14

38271299

+
intron-intronENST00000531166ENST00000476979CASP1chr11

104903791

-TTC6chr14

38271299

+
intron-intronENST00000531166ENST00000553443CASP1chr11

104903791

-TTC6chr14

38271299

+
intron-intronENST00000534497ENST00000267368CASP1chr11

104903791

-TTC6chr14

38271299

+
intron-intronENST00000534497ENST00000382320CASP1chr11

104903791

-TTC6chr14

38271299

+
intron-intronENST00000534497ENST00000476979CASP1chr11

104903791

-TTC6chr14

38271299

+
intron-intronENST00000534497ENST00000553443CASP1chr11

104903791

-TTC6chr14

38271299

+
intron-intronENST00000593315ENST00000267368CASP1chr11

104903791

-TTC6chr14

38271299

+
intron-intronENST00000593315ENST00000382320CASP1chr11

104903791

-TTC6chr14

38271299

+
intron-intronENST00000593315ENST00000476979CASP1chr11

104903791

-TTC6chr14

38271299

+
intron-intronENST00000593315ENST00000553443CASP1chr11

104903791

-TTC6chr14

38271299

+
intron-intronENST00000594519ENST00000267368CASP1chr11

104903791

-TTC6chr14

38271299

+
intron-intronENST00000594519ENST00000382320CASP1chr11

104903791

-TTC6chr14

38271299

+
intron-intronENST00000594519ENST00000476979CASP1chr11

104903791

-TTC6chr14

38271299

+
intron-intronENST00000594519ENST00000553443CASP1chr11

104903791

-TTC6chr14

38271299

+

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 CASP1-TTC6


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)
CASP1chr11104903790-TTC6chr1438271298+15.25E-08
CASP1chr11104903790-TTC6chr1438271298+15.25E-08
CASP1chr11104903790-TTC6chr1438271298+15.25E-08
CASP1chr11104903790-TTC6chr1438271298+15.25E-08


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Fusion Protein Features for CASP1-TTC6


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/:104903791/:38271299)
- 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 CASP1-TTC6


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 CASP1-TTC6


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 CASP1-TTC6


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 CASP1-TTC6


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCASP1C0001925Albuminuria1CTD_human
HgeneCASP1C0020517Hypersensitivity1CTD_human
HgeneCASP1C0021368Inflammation1CTD_human
HgeneCASP1C0021655Insulin Resistance1CTD_human
HgeneCASP1C0022658Kidney Diseases1CTD_human
HgeneCASP1C0023893Liver Cirrhosis, Experimental1CTD_human
HgeneCASP1C0026769Multiple Sclerosis1CTD_human
HgeneCASP1C0027055Myocardial Reperfusion Injury1CTD_human
HgeneCASP1C0028754Obesity1CTD_human
HgeneCASP1C0032285Pneumonia1CTD_human
HgeneCASP1C0032300Lobar Pneumonia1CTD_human
HgeneCASP1C0038220Status Epilepticus1CTD_human
HgeneCASP1C0270823Petit mal status1CTD_human
HgeneCASP1C0311335Grand Mal Status Epilepticus1CTD_human
HgeneCASP1C0393734Complex Partial Status Epilepticus1CTD_human
HgeneCASP1C0598608Hyperhomocysteinemia1CTD_human
HgeneCASP1C0751324Multiple Sclerosis, Acute Fulminating1CTD_human
HgeneCASP1C0751522Status Epilepticus, Subclinical1CTD_human
HgeneCASP1C0751523Non-Convulsive Status Epilepticus1CTD_human
HgeneCASP1C0751524Simple Partial Status Epilepticus1CTD_human
HgeneCASP1C0887898Experimental Lung Inflammation1CTD_human
HgeneCASP1C0920563Insulin Sensitivity1CTD_human
HgeneCASP1C1527304Allergic Reaction1CTD_human
HgeneCASP1C1862939AMYOTROPHIC LATERAL SCLEROSIS 11CTD_human
HgeneCASP1C1862941Amyotrophic Lateral Sclerosis, Sporadic1CTD_human
HgeneCASP1C3714636Pneumonitis1CTD_human
HgeneCASP1C4551993Amyotrophic Lateral Sclerosis, Familial1CTD_human