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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:DSCR3-TTC3 (FusionGDB2 ID:HG10311TG7267)

Fusion Gene Summary for DSCR3-TTC3

check button Fusion gene summary
Fusion gene informationFusion gene name: DSCR3-TTC3
Fusion gene ID: hg10311tg7267
HgeneTgene
Gene symbol

DSCR3

TTC3

Gene ID

10311

7267

Gene nameVPS26 endosomal protein sorting factor Ctetratricopeptide repeat domain 3
SynonymsDCRA|DSCR3|DSCRADCRR1|RNF105|TPRDIII
Cytomap('DSCR3')('TTC3')

21q22.13

21q22.13

Type of geneprotein-codingprotein-coding
Descriptionvacuolar protein sorting-associated protein 26CDSCR3 arrestin fold containingDown syndrome critical region 3Down syndrome critical region gene 3Down syndrome critical region protein 3Down syndrome critical region protein AE3 ubiquitin-protein ligase TTC3RING finger protein 105RING-type E3 ubiquitin transferase TTC3TPR repeat protein 3TPR repeat protein Dtetratricopeptide repeat protein 3
Modification date2020031320200320
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000309117, ENST00000398998, 
ENST00000399001, ENST00000476950, 
ENST00000539844, ENST00000288304, 
ENST00000399000, 
Fusion gene scores* DoF score7 X 2 X 5=7019 X 18 X 9=3078
# samples 924
** MAII scorelog2(9/70*10)=0.362570079384708
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(24/3078*10)=-3.68088692071969
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: DSCR3 [Title/Abstract] AND TTC3 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointDSCR3(38639539)-TTC3(38480692), # samples:5
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
TgeneTTC3

GO:0006511

ubiquitin-dependent protein catabolic process

20059950

TgeneTTC3

GO:0070936

protein K48-linked ubiquitination

20059950



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
ChimerDB4BLCATCGA-GU-A42P-01ADSCR3chr21

38639539

-TTC3chr21

38480692

+
ChimerDB4BRCATCGA-A7-A2KD-01ADSCR3chr21

38639539

-TTC3chr21

38480692

+
ChimerDB4BRCATCGA-A7-A2KDDSCR3chr21

38639538

-TTC3chr21

38480691

+
ChimerDB4BRCATCGA-AC-A3QQ-01ADSCR3chr21

38639539

-TTC3chr21

38480692

+
ChimerDB4BRCATCGA-AC-A3QQDSCR3chr21

38639538

-TTC3chr21

38480691

+
ChimerDB4BRCATCGA-BH-A0HYDSCR3chr21

38639538

-TTC3chr21

38480691

+
ChimerDB4BRCATCGA-EW-A2FV-01ADSCR3chr21

38639539

-TTC3chr21

38480692

+
ChimerDB4STADTCGA-D7-8576-01ADSCR3chr21

38639539

-TTC3chr21

38480692

+


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Fusion Gene ORF analysis for DSCR3-TTC3

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-3UTRENST00000309117ENST00000479930DSCR3chr21

38639539

-TTC3chr21

38480692

+
5CDS-3UTRENST00000309117ENST00000479930DSCR3chr21

38639538

-TTC3chr21

38480691

+
5CDS-3UTRENST00000398998ENST00000479930DSCR3chr21

38639539

-TTC3chr21

38480692

+
5CDS-3UTRENST00000398998ENST00000479930DSCR3chr21

38639538

-TTC3chr21

38480691

+
5CDS-3UTRENST00000399001ENST00000479930DSCR3chr21

38639539

-TTC3chr21

38480692

+
5CDS-3UTRENST00000399001ENST00000479930DSCR3chr21

38639538

-TTC3chr21

38480691

+
5CDS-3UTRENST00000476950ENST00000479930DSCR3chr21

38639539

-TTC3chr21

38480692

+
5CDS-3UTRENST00000476950ENST00000479930DSCR3chr21

38639538

-TTC3chr21

38480691

+
5CDS-3UTRENST00000539844ENST00000479930DSCR3chr21

38639539

-TTC3chr21

38480692

+
5CDS-3UTRENST00000539844ENST00000479930DSCR3chr21

38639538

-TTC3chr21

38480691

+
5CDS-5UTRENST00000309117ENST00000540756DSCR3chr21

38639539

-TTC3chr21

38480692

+
5CDS-5UTRENST00000309117ENST00000540756DSCR3chr21

38639538

-TTC3chr21

38480691

+
5CDS-5UTRENST00000398998ENST00000540756DSCR3chr21

38639539

-TTC3chr21

38480692

+
5CDS-5UTRENST00000398998ENST00000540756DSCR3chr21

38639538

-TTC3chr21

38480691

+
5CDS-5UTRENST00000399001ENST00000540756DSCR3chr21

38639539

-TTC3chr21

38480692

+
5CDS-5UTRENST00000399001ENST00000540756DSCR3chr21

38639538

-TTC3chr21

38480691

+
5CDS-5UTRENST00000476950ENST00000540756DSCR3chr21

38639539

-TTC3chr21

38480692

+
5CDS-5UTRENST00000476950ENST00000540756DSCR3chr21

38639538

-TTC3chr21

38480691

+
5CDS-5UTRENST00000539844ENST00000540756DSCR3chr21

38639539

-TTC3chr21

38480692

+
5CDS-5UTRENST00000539844ENST00000540756DSCR3chr21

38639538

-TTC3chr21

38480691

+
5CDS-intronENST00000309117ENST00000399010DSCR3chr21

38639539

-TTC3chr21

38480692

+
5CDS-intronENST00000309117ENST00000399010DSCR3chr21

38639538

-TTC3chr21

38480691

+
5CDS-intronENST00000398998ENST00000399010DSCR3chr21

38639539

-TTC3chr21

38480692

+
5CDS-intronENST00000398998ENST00000399010DSCR3chr21

38639538

-TTC3chr21

38480691

+
5CDS-intronENST00000399001ENST00000399010DSCR3chr21

38639539

-TTC3chr21

38480692

+
5CDS-intronENST00000399001ENST00000399010DSCR3chr21

38639538

-TTC3chr21

38480691

+
5CDS-intronENST00000476950ENST00000399010DSCR3chr21

38639539

-TTC3chr21

38480692

+
5CDS-intronENST00000476950ENST00000399010DSCR3chr21

38639538

-TTC3chr21

38480691

+
5CDS-intronENST00000539844ENST00000399010DSCR3chr21

38639539

-TTC3chr21

38480692

+
5CDS-intronENST00000539844ENST00000399010DSCR3chr21

38639538

-TTC3chr21

38480691

+
5UTR-3CDSENST00000288304ENST00000354749DSCR3chr21

38639539

-TTC3chr21

38480692

+
5UTR-3CDSENST00000288304ENST00000354749DSCR3chr21

38639538

-TTC3chr21

38480691

+
5UTR-3CDSENST00000288304ENST00000355666DSCR3chr21

38639539

-TTC3chr21

38480692

+
5UTR-3CDSENST00000288304ENST00000355666DSCR3chr21

38639538

-TTC3chr21

38480691

+
5UTR-3CDSENST00000288304ENST00000399017DSCR3chr21

38639539

-TTC3chr21

38480692

+
5UTR-3CDSENST00000288304ENST00000399017DSCR3chr21

38639538

-TTC3chr21

38480691

+
5UTR-3CDSENST00000399000ENST00000354749DSCR3chr21

38639539

-TTC3chr21

38480692

+
5UTR-3CDSENST00000399000ENST00000354749DSCR3chr21

38639538

-TTC3chr21

38480691

+
5UTR-3CDSENST00000399000ENST00000355666DSCR3chr21

38639539

-TTC3chr21

38480692

+
5UTR-3CDSENST00000399000ENST00000355666DSCR3chr21

38639538

-TTC3chr21

38480691

+
5UTR-3CDSENST00000399000ENST00000399017DSCR3chr21

38639539

-TTC3chr21

38480692

+
5UTR-3CDSENST00000399000ENST00000399017DSCR3chr21

38639538

-TTC3chr21

38480691

+
5UTR-3UTRENST00000288304ENST00000479930DSCR3chr21

38639539

-TTC3chr21

38480692

+
5UTR-3UTRENST00000288304ENST00000479930DSCR3chr21

38639538

-TTC3chr21

38480691

+
5UTR-3UTRENST00000399000ENST00000479930DSCR3chr21

38639539

-TTC3chr21

38480692

+
5UTR-3UTRENST00000399000ENST00000479930DSCR3chr21

38639538

-TTC3chr21

38480691

+
5UTR-5UTRENST00000288304ENST00000540756DSCR3chr21

38639539

-TTC3chr21

38480692

+
5UTR-5UTRENST00000288304ENST00000540756DSCR3chr21

38639538

-TTC3chr21

38480691

+
5UTR-5UTRENST00000399000ENST00000540756DSCR3chr21

38639539

-TTC3chr21

38480692

+
5UTR-5UTRENST00000399000ENST00000540756DSCR3chr21

38639538

-TTC3chr21

38480691

+
5UTR-intronENST00000288304ENST00000399010DSCR3chr21

38639539

-TTC3chr21

38480692

+
5UTR-intronENST00000288304ENST00000399010DSCR3chr21

38639538

-TTC3chr21

38480691

+
5UTR-intronENST00000399000ENST00000399010DSCR3chr21

38639539

-TTC3chr21

38480692

+
5UTR-intronENST00000399000ENST00000399010DSCR3chr21

38639538

-TTC3chr21

38480691

+
Frame-shiftENST00000309117ENST00000354749DSCR3chr21

38639539

-TTC3chr21

38480692

+
Frame-shiftENST00000309117ENST00000354749DSCR3chr21

38639538

-TTC3chr21

38480691

+
Frame-shiftENST00000309117ENST00000355666DSCR3chr21

38639539

-TTC3chr21

38480692

+
Frame-shiftENST00000309117ENST00000355666DSCR3chr21

38639538

-TTC3chr21

38480691

+
Frame-shiftENST00000309117ENST00000399017DSCR3chr21

38639539

-TTC3chr21

38480692

+
Frame-shiftENST00000309117ENST00000399017DSCR3chr21

38639538

-TTC3chr21

38480691

+
Frame-shiftENST00000398998ENST00000354749DSCR3chr21

38639539

-TTC3chr21

38480692

+
Frame-shiftENST00000398998ENST00000354749DSCR3chr21

38639538

-TTC3chr21

38480691

+
Frame-shiftENST00000398998ENST00000355666DSCR3chr21

38639539

-TTC3chr21

38480692

+
Frame-shiftENST00000398998ENST00000355666DSCR3chr21

38639538

-TTC3chr21

38480691

+
Frame-shiftENST00000398998ENST00000399017DSCR3chr21

38639539

-TTC3chr21

38480692

+
Frame-shiftENST00000398998ENST00000399017DSCR3chr21

38639538

-TTC3chr21

38480691

+
Frame-shiftENST00000399001ENST00000354749DSCR3chr21

38639539

-TTC3chr21

38480692

+
Frame-shiftENST00000399001ENST00000354749DSCR3chr21

38639538

-TTC3chr21

38480691

+
Frame-shiftENST00000399001ENST00000355666DSCR3chr21

38639539

-TTC3chr21

38480692

+
Frame-shiftENST00000399001ENST00000355666DSCR3chr21

38639538

-TTC3chr21

38480691

+
Frame-shiftENST00000399001ENST00000399017DSCR3chr21

38639539

-TTC3chr21

38480692

+
Frame-shiftENST00000399001ENST00000399017DSCR3chr21

38639538

-TTC3chr21

38480691

+
Frame-shiftENST00000476950ENST00000354749DSCR3chr21

38639539

-TTC3chr21

38480692

+
Frame-shiftENST00000476950ENST00000354749DSCR3chr21

38639538

-TTC3chr21

38480691

+
Frame-shiftENST00000476950ENST00000355666DSCR3chr21

38639539

-TTC3chr21

38480692

+
Frame-shiftENST00000476950ENST00000355666DSCR3chr21

38639538

-TTC3chr21

38480691

+
Frame-shiftENST00000476950ENST00000399017DSCR3chr21

38639539

-TTC3chr21

38480692

+
Frame-shiftENST00000476950ENST00000399017DSCR3chr21

38639538

-TTC3chr21

38480691

+
Frame-shiftENST00000539844ENST00000354749DSCR3chr21

38639539

-TTC3chr21

38480692

+
Frame-shiftENST00000539844ENST00000354749DSCR3chr21

38639538

-TTC3chr21

38480691

+
Frame-shiftENST00000539844ENST00000355666DSCR3chr21

38639539

-TTC3chr21

38480692

+
Frame-shiftENST00000539844ENST00000355666DSCR3chr21

38639538

-TTC3chr21

38480691

+
Frame-shiftENST00000539844ENST00000399017DSCR3chr21

38639539

-TTC3chr21

38480692

+
Frame-shiftENST00000539844ENST00000399017DSCR3chr21

38639538

-TTC3chr21

38480691

+

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 DSCR3-TTC3


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)
DSCR3chr2138639538-TTC3chr2138480691+0.025978860.97402114
DSCR3chr2138639538-TTC3chr2138480691+0.025978860.97402114
DSCR3chr2138639538-TTC3chr2138480691+0.025978860.97402114
DSCR3chr2138639538-TTC3chr2138480691+0.025978860.97402114
DSCR3chr2138639538-TTC3chr2138480691+0.025978860.97402114
DSCR3chr2138639538-TTC3chr2138480691+0.025978860.97402114
DSCR3chr2138639538-TTC3chr2138480691+0.025978860.97402114
DSCR3chr2138639538-TTC3chr2138480691+0.025978860.97402114


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 DSCR3-TTC3


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/:38639539/:38480692)
- 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 DSCR3-TTC3


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 DSCR3-TTC3


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 DSCR3-TTC3


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 DSCR3-TTC3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource