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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:TMC5-DDX19B (FusionGDB2 ID:91346)

Fusion Gene Summary for TMC5-DDX19B

check button Fusion gene summary
Fusion gene informationFusion gene name: TMC5-DDX19B
Fusion gene ID: 91346
HgeneTgene
Gene symbol

TMC5

DDX19B

Gene ID

79838

11269

Gene nametransmembrane channel like 5DEAD-box helicase 19B
Synonyms-DBP5|DDX19|RNAh
Cytomap

16p12.3

16q22.1

Type of geneprotein-codingprotein-coding
Descriptiontransmembrane channel-like protein 5ATP-dependent RNA helicase DDX19BATP-dependent RNA helicase DDX19DEAD (Asp-Glu-Ala-As) box polypeptide 19BDEAD (Asp-Glu-Ala-Asp) box polypeptide 19BDEAD box protein 19BDEAD-box RNA helicase DEAD5DEAD-box protein 5DEAD/H (Asp-Glu-Ala-Asp/His) box po
Modification date2020031320200313
UniProtAcc.

Q9UMR2

Ensembl transtripts involved in fusion geneENST00000563675, ENST00000381414, 
ENST00000396229, ENST00000541464, 
ENST00000542583, ENST00000219821, 
ENST00000561503, ENST00000564959, 
ENST00000288071, ENST00000355992, 
ENST00000393657, ENST00000451014, 
ENST00000563206, ENST00000568625, 
ENST00000570055, ENST00000563392, 
Fusion gene scores* DoF score11 X 9 X 5=4957 X 9 X 8=504
# samples 1213
** MAII scorelog2(12/495*10)=-2.04439411935845
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(13/504*10)=-1.95491211047146
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: TMC5 [Title/Abstract] AND DDX19B [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointTMC5(19441962)-DDX19B(70358487), # samples:2
Anticipated loss of major functional domain due to fusion event.TMC5-DDX19B 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

check buttonFusion gene breakpoints across TMC5 (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 DDX19B (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
ChimerDB4STADTCGA-FP-A8CXTMC5chr16

19441962

+DDX19Bchr16

70358487

+


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Fusion Gene ORF analysis for TMC5-DDX19B

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-intronENST00000563675ENST00000288071TMC5chr16

19441962

+DDX19Bchr16

70358487

+
5CDS-intronENST00000563675ENST00000355992TMC5chr16

19441962

+DDX19Bchr16

70358487

+
5CDS-intronENST00000563675ENST00000393657TMC5chr16

19441962

+DDX19Bchr16

70358487

+
5CDS-intronENST00000563675ENST00000451014TMC5chr16

19441962

+DDX19Bchr16

70358487

+
5CDS-intronENST00000563675ENST00000563206TMC5chr16

19441962

+DDX19Bchr16

70358487

+
5CDS-intronENST00000563675ENST00000568625TMC5chr16

19441962

+DDX19Bchr16

70358487

+
5CDS-intronENST00000563675ENST00000570055TMC5chr16

19441962

+DDX19Bchr16

70358487

+
5UTR-3CDSENST00000381414ENST00000563392TMC5chr16

19441962

+DDX19Bchr16

70358487

+
5UTR-3CDSENST00000396229ENST00000563392TMC5chr16

19441962

+DDX19Bchr16

70358487

+
5UTR-3CDSENST00000541464ENST00000563392TMC5chr16

19441962

+DDX19Bchr16

70358487

+
5UTR-3CDSENST00000542583ENST00000563392TMC5chr16

19441962

+DDX19Bchr16

70358487

+
5UTR-intronENST00000381414ENST00000288071TMC5chr16

19441962

+DDX19Bchr16

70358487

+
5UTR-intronENST00000381414ENST00000355992TMC5chr16

19441962

+DDX19Bchr16

70358487

+
5UTR-intronENST00000381414ENST00000393657TMC5chr16

19441962

+DDX19Bchr16

70358487

+
5UTR-intronENST00000381414ENST00000451014TMC5chr16

19441962

+DDX19Bchr16

70358487

+
5UTR-intronENST00000381414ENST00000563206TMC5chr16

19441962

+DDX19Bchr16

70358487

+
5UTR-intronENST00000381414ENST00000568625TMC5chr16

19441962

+DDX19Bchr16

70358487

+
5UTR-intronENST00000381414ENST00000570055TMC5chr16

19441962

+DDX19Bchr16

70358487

+
5UTR-intronENST00000396229ENST00000288071TMC5chr16

19441962

+DDX19Bchr16

70358487

+
5UTR-intronENST00000396229ENST00000355992TMC5chr16

19441962

+DDX19Bchr16

70358487

+
5UTR-intronENST00000396229ENST00000393657TMC5chr16

19441962

+DDX19Bchr16

70358487

+
5UTR-intronENST00000396229ENST00000451014TMC5chr16

19441962

+DDX19Bchr16

70358487

+
5UTR-intronENST00000396229ENST00000563206TMC5chr16

19441962

+DDX19Bchr16

70358487

+
5UTR-intronENST00000396229ENST00000568625TMC5chr16

19441962

+DDX19Bchr16

70358487

+
5UTR-intronENST00000396229ENST00000570055TMC5chr16

19441962

+DDX19Bchr16

70358487

+
5UTR-intronENST00000541464ENST00000288071TMC5chr16

19441962

+DDX19Bchr16

70358487

+
5UTR-intronENST00000541464ENST00000355992TMC5chr16

19441962

+DDX19Bchr16

70358487

+
5UTR-intronENST00000541464ENST00000393657TMC5chr16

19441962

+DDX19Bchr16

70358487

+
5UTR-intronENST00000541464ENST00000451014TMC5chr16

19441962

+DDX19Bchr16

70358487

+
5UTR-intronENST00000541464ENST00000563206TMC5chr16

19441962

+DDX19Bchr16

70358487

+
5UTR-intronENST00000541464ENST00000568625TMC5chr16

19441962

+DDX19Bchr16

70358487

+
5UTR-intronENST00000541464ENST00000570055TMC5chr16

19441962

+DDX19Bchr16

70358487

+
5UTR-intronENST00000542583ENST00000288071TMC5chr16

19441962

+DDX19Bchr16

70358487

+
5UTR-intronENST00000542583ENST00000355992TMC5chr16

19441962

+DDX19Bchr16

70358487

+
5UTR-intronENST00000542583ENST00000393657TMC5chr16

19441962

+DDX19Bchr16

70358487

+
5UTR-intronENST00000542583ENST00000451014TMC5chr16

19441962

+DDX19Bchr16

70358487

+
5UTR-intronENST00000542583ENST00000563206TMC5chr16

19441962

+DDX19Bchr16

70358487

+
5UTR-intronENST00000542583ENST00000568625TMC5chr16

19441962

+DDX19Bchr16

70358487

+
5UTR-intronENST00000542583ENST00000570055TMC5chr16

19441962

+DDX19Bchr16

70358487

+
Frame-shiftENST00000563675ENST00000563392TMC5chr16

19441962

+DDX19Bchr16

70358487

+
intron-3CDSENST00000219821ENST00000563392TMC5chr16

19441962

+DDX19Bchr16

70358487

+
intron-3CDSENST00000561503ENST00000563392TMC5chr16

19441962

+DDX19Bchr16

70358487

+
intron-3CDSENST00000564959ENST00000563392TMC5chr16

19441962

+DDX19Bchr16

70358487

+
intron-intronENST00000219821ENST00000288071TMC5chr16

19441962

+DDX19Bchr16

70358487

+
intron-intronENST00000219821ENST00000355992TMC5chr16

19441962

+DDX19Bchr16

70358487

+
intron-intronENST00000219821ENST00000393657TMC5chr16

19441962

+DDX19Bchr16

70358487

+
intron-intronENST00000219821ENST00000451014TMC5chr16

19441962

+DDX19Bchr16

70358487

+
intron-intronENST00000219821ENST00000563206TMC5chr16

19441962

+DDX19Bchr16

70358487

+
intron-intronENST00000219821ENST00000568625TMC5chr16

19441962

+DDX19Bchr16

70358487

+
intron-intronENST00000219821ENST00000570055TMC5chr16

19441962

+DDX19Bchr16

70358487

+
intron-intronENST00000561503ENST00000288071TMC5chr16

19441962

+DDX19Bchr16

70358487

+
intron-intronENST00000561503ENST00000355992TMC5chr16

19441962

+DDX19Bchr16

70358487

+
intron-intronENST00000561503ENST00000393657TMC5chr16

19441962

+DDX19Bchr16

70358487

+
intron-intronENST00000561503ENST00000451014TMC5chr16

19441962

+DDX19Bchr16

70358487

+
intron-intronENST00000561503ENST00000563206TMC5chr16

19441962

+DDX19Bchr16

70358487

+
intron-intronENST00000561503ENST00000568625TMC5chr16

19441962

+DDX19Bchr16

70358487

+
intron-intronENST00000561503ENST00000570055TMC5chr16

19441962

+DDX19Bchr16

70358487

+
intron-intronENST00000564959ENST00000288071TMC5chr16

19441962

+DDX19Bchr16

70358487

+
intron-intronENST00000564959ENST00000355992TMC5chr16

19441962

+DDX19Bchr16

70358487

+
intron-intronENST00000564959ENST00000393657TMC5chr16

19441962

+DDX19Bchr16

70358487

+
intron-intronENST00000564959ENST00000451014TMC5chr16

19441962

+DDX19Bchr16

70358487

+
intron-intronENST00000564959ENST00000563206TMC5chr16

19441962

+DDX19Bchr16

70358487

+
intron-intronENST00000564959ENST00000568625TMC5chr16

19441962

+DDX19Bchr16

70358487

+
intron-intronENST00000564959ENST00000570055TMC5chr16

19441962

+DDX19Bchr16

70358487

+

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 TMC5-DDX19B


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)
TMC5chr1619441962+DDX19Bchr1670358487+2.12E-081
TMC5chr1619441962+DDX19Bchr1670358487+2.12E-081

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.
genomic feature of top 1%

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Fusion Protein Features for TMC5-DDX19B


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/:19441962/:70358487)
- 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
.DDX19B

Q9UMR2

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: ATP-dependent RNA helicase involved in mRNA export from the nucleus (PubMed:10428971). Rather than unwinding RNA duplexes, DDX19B functions as a remodeler of ribonucleoprotein particles, whereby proteins bound to nuclear mRNA are dissociated and replaced by cytoplasmic mRNA binding proteins (PubMed:10428971). {ECO:0000269|PubMed:10428971}.

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 TMC5-DDX19B


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 TMC5-DDX19B


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 TMC5-DDX19B


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 TMC5-DDX19B


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