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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:DDX19B-DIAPH2 (FusionGDB2 ID:21917)

Fusion Gene Summary for DDX19B-DIAPH2

check button Fusion gene summary
Fusion gene informationFusion gene name: DDX19B-DIAPH2
Fusion gene ID: 21917
HgeneTgene
Gene symbol

DDX19B

DIAPH2

Gene ID

11269

1730

Gene nameDEAD-box helicase 19Bdiaphanous related formin 2
SynonymsDBP5|DDX19|RNAhDIA|DIA2|DRF2|POF|POF2|POF2A
Cytomap

16q22.1

Xq21.33

Type of geneprotein-codingprotein-coding
DescriptionATP-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 poprotein diaphanous homolog 2diaphanous homolog 2diaphorase-2
Modification date2020031320200313
UniProtAcc

Q9UMR2

Q14236

Ensembl transtripts involved in fusion geneENST00000288071, ENST00000355992, 
ENST00000393657, ENST00000451014, 
ENST00000563206, ENST00000563392, 
ENST00000568625, ENST00000570055, 
ENST00000324765, ENST00000355827, 
ENST00000373049, ENST00000373054, 
ENST00000373061, 
Fusion gene scores* DoF score5 X 4 X 3=6011 X 12 X 5=660
# samples 512
** MAII scorelog2(5/60*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(12/660*10)=-2.4594316186373
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: DDX19B [Title/Abstract] AND DIAPH2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointDDX19B(70326531)-DIAPH2(96203995), # 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 buttonFusion gene breakpoints across DDX19B (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 DIAPH2 (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
ChiTaRS5.0N/AFN162803DDX19Bchr16

70326531

-DIAPH2chrX

96203995

+


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Fusion Gene ORF analysis for DDX19B-DIAPH2

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
intron-3CDSENST00000288071ENST00000324765DDX19Bchr16

70326531

-DIAPH2chrX

96203995

+
intron-3CDSENST00000288071ENST00000355827DDX19Bchr16

70326531

-DIAPH2chrX

96203995

+
intron-3CDSENST00000288071ENST00000373049DDX19Bchr16

70326531

-DIAPH2chrX

96203995

+
intron-3CDSENST00000288071ENST00000373054DDX19Bchr16

70326531

-DIAPH2chrX

96203995

+
intron-3CDSENST00000288071ENST00000373061DDX19Bchr16

70326531

-DIAPH2chrX

96203995

+
intron-3CDSENST00000355992ENST00000324765DDX19Bchr16

70326531

-DIAPH2chrX

96203995

+
intron-3CDSENST00000355992ENST00000355827DDX19Bchr16

70326531

-DIAPH2chrX

96203995

+
intron-3CDSENST00000355992ENST00000373049DDX19Bchr16

70326531

-DIAPH2chrX

96203995

+
intron-3CDSENST00000355992ENST00000373054DDX19Bchr16

70326531

-DIAPH2chrX

96203995

+
intron-3CDSENST00000355992ENST00000373061DDX19Bchr16

70326531

-DIAPH2chrX

96203995

+
intron-3CDSENST00000393657ENST00000324765DDX19Bchr16

70326531

-DIAPH2chrX

96203995

+
intron-3CDSENST00000393657ENST00000355827DDX19Bchr16

70326531

-DIAPH2chrX

96203995

+
intron-3CDSENST00000393657ENST00000373049DDX19Bchr16

70326531

-DIAPH2chrX

96203995

+
intron-3CDSENST00000393657ENST00000373054DDX19Bchr16

70326531

-DIAPH2chrX

96203995

+
intron-3CDSENST00000393657ENST00000373061DDX19Bchr16

70326531

-DIAPH2chrX

96203995

+
intron-3CDSENST00000451014ENST00000324765DDX19Bchr16

70326531

-DIAPH2chrX

96203995

+
intron-3CDSENST00000451014ENST00000355827DDX19Bchr16

70326531

-DIAPH2chrX

96203995

+
intron-3CDSENST00000451014ENST00000373049DDX19Bchr16

70326531

-DIAPH2chrX

96203995

+
intron-3CDSENST00000451014ENST00000373054DDX19Bchr16

70326531

-DIAPH2chrX

96203995

+
intron-3CDSENST00000451014ENST00000373061DDX19Bchr16

70326531

-DIAPH2chrX

96203995

+
intron-3CDSENST00000563206ENST00000324765DDX19Bchr16

70326531

-DIAPH2chrX

96203995

+
intron-3CDSENST00000563206ENST00000355827DDX19Bchr16

70326531

-DIAPH2chrX

96203995

+
intron-3CDSENST00000563206ENST00000373049DDX19Bchr16

70326531

-DIAPH2chrX

96203995

+
intron-3CDSENST00000563206ENST00000373054DDX19Bchr16

70326531

-DIAPH2chrX

96203995

+
intron-3CDSENST00000563206ENST00000373061DDX19Bchr16

70326531

-DIAPH2chrX

96203995

+
intron-3CDSENST00000563392ENST00000324765DDX19Bchr16

70326531

-DIAPH2chrX

96203995

+
intron-3CDSENST00000563392ENST00000355827DDX19Bchr16

70326531

-DIAPH2chrX

96203995

+
intron-3CDSENST00000563392ENST00000373049DDX19Bchr16

70326531

-DIAPH2chrX

96203995

+
intron-3CDSENST00000563392ENST00000373054DDX19Bchr16

70326531

-DIAPH2chrX

96203995

+
intron-3CDSENST00000563392ENST00000373061DDX19Bchr16

70326531

-DIAPH2chrX

96203995

+
intron-3CDSENST00000568625ENST00000324765DDX19Bchr16

70326531

-DIAPH2chrX

96203995

+
intron-3CDSENST00000568625ENST00000355827DDX19Bchr16

70326531

-DIAPH2chrX

96203995

+
intron-3CDSENST00000568625ENST00000373049DDX19Bchr16

70326531

-DIAPH2chrX

96203995

+
intron-3CDSENST00000568625ENST00000373054DDX19Bchr16

70326531

-DIAPH2chrX

96203995

+
intron-3CDSENST00000568625ENST00000373061DDX19Bchr16

70326531

-DIAPH2chrX

96203995

+
intron-3CDSENST00000570055ENST00000324765DDX19Bchr16

70326531

-DIAPH2chrX

96203995

+
intron-3CDSENST00000570055ENST00000355827DDX19Bchr16

70326531

-DIAPH2chrX

96203995

+
intron-3CDSENST00000570055ENST00000373049DDX19Bchr16

70326531

-DIAPH2chrX

96203995

+
intron-3CDSENST00000570055ENST00000373054DDX19Bchr16

70326531

-DIAPH2chrX

96203995

+
intron-3CDSENST00000570055ENST00000373061DDX19Bchr16

70326531

-DIAPH2chrX

96203995

+

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 DDX19B-DIAPH2


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 DDX19B-DIAPH2


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/:70326531/:96203995)
- 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

DIAPH2

Q14236

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}.FUNCTION: May function as an early signal that helps mediate the activation of T-cells. {ECO:0000269|PubMed:8133036}.

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 DDX19B-DIAPH2


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 DDX19B-DIAPH2


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 DDX19B-DIAPH2


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 DDX19B-DIAPH2


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