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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:TTC12-CASP10 (FusionGDB2 ID:HG54970TG843)

Fusion Gene Summary for TTC12-CASP10

check button Fusion gene summary
Fusion gene informationFusion gene name: TTC12-CASP10
Fusion gene ID: hg54970tg843
HgeneTgene
Gene symbol

TTC12

CASP10

Gene ID

54970

843

Gene nametetratricopeptide repeat domain 12caspase 10
SynonymsCILD45|TPARMALPS2|FLICE2|MCH4
Cytomap('TTC12')('CASP10')

11q23.2

2q33.1

Type of geneprotein-codingprotein-coding
Descriptiontetratricopeptide repeat protein 12TPR repeat protein 12caspase-10CASP-10FADD-like ICE2FAS-associated death domain protein interleukin-1B-converting enzyme 2ICE-like apoptotic protease 4apoptotic protease MCH-4caspase 10 apoptosis-related cysteine peptidasecaspase 10, apoptosis-related cysteine protease
Modification date2020031420200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000314756, ENST00000393020, 
ENST00000483239, ENST00000529221, 
ENST00000478125, 
Fusion gene scores* DoF score8 X 6 X 4=1925 X 3 X 3=45
# samples 94
** MAII scorelog2(9/192*10)=-1.09310940439148
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(4/45*10)=-0.169925001442312
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: TTC12 [Title/Abstract] AND CASP10 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointTTC12(113205759)-CASP10(202093656), # 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


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
ChimerDB4STADTCGA-BR-8078-01ATTC12chr11

113205759

+CASP10chr2

202093656

+


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Fusion Gene ORF analysis for TTC12-CASP10

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-intronENST00000314756ENST00000272879TTC12chr11

113205759

+CASP10chr2

202093656

+
5CDS-intronENST00000314756ENST00000286186TTC12chr11

113205759

+CASP10chr2

202093656

+
5CDS-intronENST00000314756ENST00000313728TTC12chr11

113205759

+CASP10chr2

202093656

+
5CDS-intronENST00000314756ENST00000346817TTC12chr11

113205759

+CASP10chr2

202093656

+
5CDS-intronENST00000314756ENST00000360132TTC12chr11

113205759

+CASP10chr2

202093656

+
5CDS-intronENST00000314756ENST00000374650TTC12chr11

113205759

+CASP10chr2

202093656

+
5CDS-intronENST00000314756ENST00000448480TTC12chr11

113205759

+CASP10chr2

202093656

+
5CDS-intronENST00000314756ENST00000492363TTC12chr11

113205759

+CASP10chr2

202093656

+
5CDS-intronENST00000393020ENST00000272879TTC12chr11

113205759

+CASP10chr2

202093656

+
5CDS-intronENST00000393020ENST00000286186TTC12chr11

113205759

+CASP10chr2

202093656

+
5CDS-intronENST00000393020ENST00000313728TTC12chr11

113205759

+CASP10chr2

202093656

+
5CDS-intronENST00000393020ENST00000346817TTC12chr11

113205759

+CASP10chr2

202093656

+
5CDS-intronENST00000393020ENST00000360132TTC12chr11

113205759

+CASP10chr2

202093656

+
5CDS-intronENST00000393020ENST00000374650TTC12chr11

113205759

+CASP10chr2

202093656

+
5CDS-intronENST00000393020ENST00000448480TTC12chr11

113205759

+CASP10chr2

202093656

+
5CDS-intronENST00000393020ENST00000492363TTC12chr11

113205759

+CASP10chr2

202093656

+
5CDS-intronENST00000483239ENST00000272879TTC12chr11

113205759

+CASP10chr2

202093656

+
5CDS-intronENST00000483239ENST00000286186TTC12chr11

113205759

+CASP10chr2

202093656

+
5CDS-intronENST00000483239ENST00000313728TTC12chr11

113205759

+CASP10chr2

202093656

+
5CDS-intronENST00000483239ENST00000346817TTC12chr11

113205759

+CASP10chr2

202093656

+
5CDS-intronENST00000483239ENST00000360132TTC12chr11

113205759

+CASP10chr2

202093656

+
5CDS-intronENST00000483239ENST00000374650TTC12chr11

113205759

+CASP10chr2

202093656

+
5CDS-intronENST00000483239ENST00000448480TTC12chr11

113205759

+CASP10chr2

202093656

+
5CDS-intronENST00000483239ENST00000492363TTC12chr11

113205759

+CASP10chr2

202093656

+
5CDS-intronENST00000529221ENST00000272879TTC12chr11

113205759

+CASP10chr2

202093656

+
5CDS-intronENST00000529221ENST00000286186TTC12chr11

113205759

+CASP10chr2

202093656

+
5CDS-intronENST00000529221ENST00000313728TTC12chr11

113205759

+CASP10chr2

202093656

+
5CDS-intronENST00000529221ENST00000346817TTC12chr11

113205759

+CASP10chr2

202093656

+
5CDS-intronENST00000529221ENST00000360132TTC12chr11

113205759

+CASP10chr2

202093656

+
5CDS-intronENST00000529221ENST00000374650TTC12chr11

113205759

+CASP10chr2

202093656

+
5CDS-intronENST00000529221ENST00000448480TTC12chr11

113205759

+CASP10chr2

202093656

+
5CDS-intronENST00000529221ENST00000492363TTC12chr11

113205759

+CASP10chr2

202093656

+
intron-intronENST00000478125ENST00000272879TTC12chr11

113205759

+CASP10chr2

202093656

+
intron-intronENST00000478125ENST00000286186TTC12chr11

113205759

+CASP10chr2

202093656

+
intron-intronENST00000478125ENST00000313728TTC12chr11

113205759

+CASP10chr2

202093656

+
intron-intronENST00000478125ENST00000346817TTC12chr11

113205759

+CASP10chr2

202093656

+
intron-intronENST00000478125ENST00000360132TTC12chr11

113205759

+CASP10chr2

202093656

+
intron-intronENST00000478125ENST00000374650TTC12chr11

113205759

+CASP10chr2

202093656

+
intron-intronENST00000478125ENST00000448480TTC12chr11

113205759

+CASP10chr2

202093656

+
intron-intronENST00000478125ENST00000492363TTC12chr11

113205759

+CASP10chr2

202093656

+

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 TTC12-CASP10


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)
TTC12chr11113205759+CASP10chr2202093655+0.252679820.7473202
TTC12chr11113205759+CASP10chr2202093655+0.252679820.7473202


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 TTC12-CASP10


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/:113205759/:202093656)
- 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 TTC12-CASP10


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 TTC12-CASP10


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 TTC12-CASP10


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 TTC12-CASP10


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneTTC12C0001973Alcoholic Intoxication, Chronic3PSYGENET
TgeneC1328840Autoimmune Lymphoproliferative Syndrome2ORPHANET
TgeneC1858968Autoimmune Lymphoproliferative Syndrome, Type IIA2CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneC0007114Malignant neoplasm of skin1CTD_human
TgeneC0025202melanoma1CTD_human
TgeneC0037286Skin Neoplasms1CTD_human
TgeneC0699791Stomach Carcinoma1CGI;UNIPROT
TgeneC4721532Lymphoma, Non-Hodgkin, Familial1CTD_human;UNIPROT