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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:TSFM-DCTN2 (FusionGDB2 ID:94549)

Fusion Gene Summary for TSFM-DCTN2

check button Fusion gene summary
Fusion gene informationFusion gene name: TSFM-DCTN2
Fusion gene ID: 94549
HgeneTgene
Gene symbol

TSFM

DCTN2

Gene ID

10102

10540

Gene nameTs translation elongation factor, mitochondrialdynactin subunit 2
SynonymsEFTS|EFTSMTDCTN50|DYNAMITIN|HEL-S-77|RBP50
Cytomap

12q14.1

12q13.3

Type of geneprotein-codingprotein-coding
Descriptionelongation factor Ts, mitochondrialEF-TsEF-TsMtmitochondrial elongation factor Tsdynactin subunit 250 kDa dynein-associated polypeptidedynactin 2 (p50)dynactin complex 50 kDa subunitepididymis secretory protein Li 77epididymis secretory sperm binding proteinp50 dynamitin
Modification date2020031320200313
UniProtAcc.

Q13561

Ensembl transtripts involved in fusion geneENST00000497617, ENST00000323833, 
ENST00000350762, ENST00000454289, 
ENST00000543727, ENST00000548851, 
ENST00000550559, ENST00000540550, 
ENST00000434715, ENST00000537439, 
ENST00000543672, ENST00000548249, 
ENST00000551400, 
Fusion gene scores* DoF score26 X 8 X 7=14567 X 3 X 6=126
# samples 307
** MAII scorelog2(30/1456*10)=-2.27897594970282
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(7/126*10)=-0.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: TSFM [Title/Abstract] AND DCTN2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointTSFM(58186856)-DCTN2(57929628), # samples:2
Anticipated loss of major functional domain due to fusion event.TSFM-DCTN2 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
TSFM-DCTN2 seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF.
* 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
HgeneTSFM

GO:0070129

regulation of mitochondrial translation

27677415


check buttonFusion gene breakpoints across TSFM (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across DCTN2 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

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
ChimerDB4LGGTCGA-VW-A8FI-01ATSFMchr12

58186856

+DCTN2chr12

57929628

-
ChimerDB4LGGTCGA-VW-A8FITSFMchr12

58186856

+DCTN2chr12

57929628

-


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Fusion Gene ORF analysis for TSFM-DCTN2

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-3CDSENST00000497617ENST00000434715TSFMchr12

58186856

+DCTN2chr12

57929628

-
3UTR-3CDSENST00000497617ENST00000537439TSFMchr12

58186856

+DCTN2chr12

57929628

-
3UTR-3CDSENST00000497617ENST00000543672TSFMchr12

58186856

+DCTN2chr12

57929628

-
3UTR-3CDSENST00000497617ENST00000548249TSFMchr12

58186856

+DCTN2chr12

57929628

-
3UTR-5UTRENST00000497617ENST00000551400TSFMchr12

58186856

+DCTN2chr12

57929628

-
5CDS-5UTRENST00000323833ENST00000551400TSFMchr12

58186856

+DCTN2chr12

57929628

-
5CDS-5UTRENST00000350762ENST00000551400TSFMchr12

58186856

+DCTN2chr12

57929628

-
5CDS-5UTRENST00000454289ENST00000551400TSFMchr12

58186856

+DCTN2chr12

57929628

-
5CDS-5UTRENST00000543727ENST00000551400TSFMchr12

58186856

+DCTN2chr12

57929628

-
5CDS-5UTRENST00000548851ENST00000551400TSFMchr12

58186856

+DCTN2chr12

57929628

-
5CDS-5UTRENST00000550559ENST00000551400TSFMchr12

58186856

+DCTN2chr12

57929628

-
Frame-shiftENST00000323833ENST00000434715TSFMchr12

58186856

+DCTN2chr12

57929628

-
Frame-shiftENST00000323833ENST00000537439TSFMchr12

58186856

+DCTN2chr12

57929628

-
Frame-shiftENST00000323833ENST00000543672TSFMchr12

58186856

+DCTN2chr12

57929628

-
Frame-shiftENST00000323833ENST00000548249TSFMchr12

58186856

+DCTN2chr12

57929628

-
Frame-shiftENST00000350762ENST00000434715TSFMchr12

58186856

+DCTN2chr12

57929628

-
Frame-shiftENST00000350762ENST00000537439TSFMchr12

58186856

+DCTN2chr12

57929628

-
Frame-shiftENST00000350762ENST00000543672TSFMchr12

58186856

+DCTN2chr12

57929628

-
Frame-shiftENST00000350762ENST00000548249TSFMchr12

58186856

+DCTN2chr12

57929628

-
Frame-shiftENST00000454289ENST00000434715TSFMchr12

58186856

+DCTN2chr12

57929628

-
Frame-shiftENST00000454289ENST00000537439TSFMchr12

58186856

+DCTN2chr12

57929628

-
Frame-shiftENST00000454289ENST00000543672TSFMchr12

58186856

+DCTN2chr12

57929628

-
Frame-shiftENST00000454289ENST00000548249TSFMchr12

58186856

+DCTN2chr12

57929628

-
Frame-shiftENST00000543727ENST00000434715TSFMchr12

58186856

+DCTN2chr12

57929628

-
Frame-shiftENST00000543727ENST00000537439TSFMchr12

58186856

+DCTN2chr12

57929628

-
Frame-shiftENST00000543727ENST00000543672TSFMchr12

58186856

+DCTN2chr12

57929628

-
Frame-shiftENST00000543727ENST00000548249TSFMchr12

58186856

+DCTN2chr12

57929628

-
Frame-shiftENST00000548851ENST00000434715TSFMchr12

58186856

+DCTN2chr12

57929628

-
Frame-shiftENST00000548851ENST00000537439TSFMchr12

58186856

+DCTN2chr12

57929628

-
Frame-shiftENST00000548851ENST00000543672TSFMchr12

58186856

+DCTN2chr12

57929628

-
Frame-shiftENST00000548851ENST00000548249TSFMchr12

58186856

+DCTN2chr12

57929628

-
Frame-shiftENST00000550559ENST00000434715TSFMchr12

58186856

+DCTN2chr12

57929628

-
Frame-shiftENST00000550559ENST00000537439TSFMchr12

58186856

+DCTN2chr12

57929628

-
Frame-shiftENST00000550559ENST00000543672TSFMchr12

58186856

+DCTN2chr12

57929628

-
Frame-shiftENST00000550559ENST00000548249TSFMchr12

58186856

+DCTN2chr12

57929628

-
intron-3CDSENST00000540550ENST00000434715TSFMchr12

58186856

+DCTN2chr12

57929628

-
intron-3CDSENST00000540550ENST00000537439TSFMchr12

58186856

+DCTN2chr12

57929628

-
intron-3CDSENST00000540550ENST00000543672TSFMchr12

58186856

+DCTN2chr12

57929628

-
intron-3CDSENST00000540550ENST00000548249TSFMchr12

58186856

+DCTN2chr12

57929628

-
intron-5UTRENST00000540550ENST00000551400TSFMchr12

58186856

+DCTN2chr12

57929628

-

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 TSFM-DCTN2


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)

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

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.

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Fusion Protein Features for TSFM-DCTN2


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/:58186856/:57929628)
- 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
.DCTN2

Q13561

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: Modulates cytoplasmic dynein binding to an organelle, and plays a role in prometaphase chromosome alignment and spindle organization during mitosis. Involved in anchoring microtubules to centrosomes. May play a role in synapse formation during brain development.

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 TSFM-DCTN2


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 TSFM-DCTN2


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 TSFM-DCTN2


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 TSFM-DCTN2


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