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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:QDPR-DHX34 (FusionGDB2 ID:70527)

Fusion Gene Summary for QDPR-DHX34

check button Fusion gene summary
Fusion gene informationFusion gene name: QDPR-DHX34
Fusion gene ID: 70527
HgeneTgene
Gene symbol

QDPR

DHX34

Gene ID

5860

9704

Gene namequinoid dihydropteridine reductaseDExH-box helicase 34
SynonymsDHPR|HDHPR|PKU2|SDR33C1DDX34|HRH1
Cytomap

4p15.32

19q13.32

Type of geneprotein-codingprotein-coding
Descriptiondihydropteridine reductase6,7-dihydropteridine reductaseshort chain dehydrogenase/reductase family 33C member 1testis secretory sperm-binding protein Li 236Pprobable ATP-dependent RNA helicase DHX34DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 34DEAH (Asp-Glu-Ala-His) box polypeptide 34DEAH box protein 34DEAH-box helicase 34probable ATP-dependent helicase DHX34
Modification date2020031320200322
UniProtAcc.

Q14147

Ensembl transtripts involved in fusion geneENST00000513615, ENST00000281243, 
ENST00000428702, ENST00000508623, 
ENST00000328771, ENST00000471451, 
Fusion gene scores* DoF score4 X 4 X 1=166 X 6 X 2=72
# samples 46
** MAII scorelog2(4/16*10)=1.32192809488736
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(6/72*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: QDPR [Title/Abstract] AND DHX34 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointQDPR(17492289)-DHX34(47865909), # samples:1
Anticipated loss of major functional domain due to fusion event.QDPR-DHX34 seems lost the major protein functional domain in Hgene partner, which is a cell metabolism 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 QDPR (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 DHX34 (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/ABF375181QDPRchr4

17492289

-DHX34chr19

47865909

-


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Fusion Gene ORF analysis for QDPR-DHX34

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-3CDSENST00000513615ENST00000328771QDPRchr4

17492289

-DHX34chr19

47865909

-
3UTR-intronENST00000513615ENST00000471451QDPRchr4

17492289

-DHX34chr19

47865909

-
Frame-shiftENST00000281243ENST00000328771QDPRchr4

17492289

-DHX34chr19

47865909

-
5CDS-intronENST00000281243ENST00000471451QDPRchr4

17492289

-DHX34chr19

47865909

-
Frame-shiftENST00000428702ENST00000328771QDPRchr4

17492289

-DHX34chr19

47865909

-
5CDS-intronENST00000428702ENST00000471451QDPRchr4

17492289

-DHX34chr19

47865909

-
intron-3CDSENST00000508623ENST00000328771QDPRchr4

17492289

-DHX34chr19

47865909

-
intron-intronENST00000508623ENST00000471451QDPRchr4

17492289

-DHX34chr19

47865909

-

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 QDPR-DHX34


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 QDPR-DHX34


check button Go to

FGviewer for the breakpoints of :-:

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
.DHX34

Q14147

FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.FUNCTION: Probable ATP-binding RNA helicase.

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 QDPR-DHX34


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 QDPR-DHX34


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 QDPR-DHX34


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 QDPR-DHX34


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneQDPRC0268465Phenylketonuria II11CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneQDPRC0013421Dystonia2GENOMICS_ENGLAND
HgeneQDPRC0031485Phenylketonurias1CTD_human
HgeneQDPRC0751434Classical phenylketonuria1CTD_human
HgeneQDPRC0751435Hyperphenylalaninaemia1CTD_human
HgeneQDPRC0751436Hyperphenylalaninemia, Non-Phenylketonuric1CTD_human
TgeneDHX34C4225275MENTAL RETARDATION, AUTOSOMAL DOMINANT 401GENOMICS_ENGLAND