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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:DPF2-POLA2 (FusionGDB2 ID:23918)

Fusion Gene Summary for DPF2-POLA2

check button Fusion gene summary
Fusion gene informationFusion gene name: DPF2-POLA2
Fusion gene ID: 23918
HgeneTgene
Gene symbol

DPF2

POLA2

Gene ID

5977

23649

Gene namedouble PHD fingers 2DNA polymerase alpha 2, accessory subunit
SynonymsCSS7|REQ|UBID4|ubi-d4-
Cytomap

11q13.1

11q13.1

Type of geneprotein-codingprotein-coding
Descriptionzinc finger protein ubi-d4BAF45DBRG1-associated factor 45DD4, zinc and double PHD fingers family 2apoptosis response zinc finger proteinprotein requiemrequiem, apoptosis response zinc fingerDNA polymerase alpha subunit BDNA polymerase alpha 70 kDa subunitpolymerase (DNA directed), alpha 2 (70kD subunit)polymerase (DNA directed), alpha 2, accessory subunitpolymerase (DNA) alpha 2, accessory subunitpolymerase (DNA-directed), alpha (70kD)
Modification date2020031320200313
UniProtAcc

Q92785

.
Ensembl transtripts involved in fusion geneENST00000528416, ENST00000415073, 
ENST00000252268, ENST00000532264, 
ENST00000265465, ENST00000541089, 
ENST00000534785, 
Fusion gene scores* DoF score7 X 5 X 5=17510 X 14 X 6=840
# samples 1016
** MAII scorelog2(10/175*10)=-0.807354922057604
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(16/840*10)=-2.39231742277876
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: DPF2 [Title/Abstract] AND POLA2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointDPF2(65113830)-POLA2(65049950), # samples:2
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 DPF2 (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 POLA2 (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
ChimerDB4GBMTCGA-06-0141DPF2chr11

65113830

+POLA2chr11

65049949

+
ChimerDB4UCECTCGA-D1-A179DPF2chr11

65116402

+POLA2chr11

65055186

+
ChimerDB4GBMTCGA-06-0141-01ADPF2chr11

65113830

+POLA2chr11

65049950

+
ChimerDB4UCECTCGA-D1-A179-01ADPF2chr11

65116402

+POLA2chr11

65055187

+
ChimerDB4GBMTCGA-06-0141-01ADPF2chr11

65113830

-POLA2chr11

65049950

+


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Fusion Gene ORF analysis for DPF2-POLA2

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
In-frameENST00000528416ENST00000265465DPF2chr11

65113830

+POLA2chr11

65049949

+
In-frameENST00000528416ENST00000541089DPF2chr11

65113830

+POLA2chr11

65049949

+
5CDS-intronENST00000528416ENST00000534785DPF2chr11

65113830

+POLA2chr11

65049949

+
intron-3CDSENST00000415073ENST00000265465DPF2chr11

65113830

+POLA2chr11

65049949

+
intron-3CDSENST00000415073ENST00000541089DPF2chr11

65113830

+POLA2chr11

65049949

+
intron-intronENST00000415073ENST00000534785DPF2chr11

65113830

+POLA2chr11

65049949

+
In-frameENST00000252268ENST00000265465DPF2chr11

65113830

+POLA2chr11

65049949

+
In-frameENST00000252268ENST00000541089DPF2chr11

65113830

+POLA2chr11

65049949

+
5CDS-intronENST00000252268ENST00000534785DPF2chr11

65113830

+POLA2chr11

65049949

+
intron-3CDSENST00000532264ENST00000265465DPF2chr11

65113830

+POLA2chr11

65049949

+
intron-3CDSENST00000532264ENST00000541089DPF2chr11

65113830

+POLA2chr11

65049949

+
intron-intronENST00000532264ENST00000534785DPF2chr11

65113830

+POLA2chr11

65049949

+
In-frameENST00000528416ENST00000265465DPF2chr11

65116402

+POLA2chr11

65055186

+
In-frameENST00000528416ENST00000541089DPF2chr11

65116402

+POLA2chr11

65055186

+
5CDS-intronENST00000528416ENST00000534785DPF2chr11

65116402

+POLA2chr11

65055186

+
In-frameENST00000415073ENST00000265465DPF2chr11

65116402

+POLA2chr11

65055186

+
In-frameENST00000415073ENST00000541089DPF2chr11

65116402

+POLA2chr11

65055186

+
5CDS-intronENST00000415073ENST00000534785DPF2chr11

65116402

+POLA2chr11

65055186

+
In-frameENST00000252268ENST00000265465DPF2chr11

65116402

+POLA2chr11

65055186

+
In-frameENST00000252268ENST00000541089DPF2chr11

65116402

+POLA2chr11

65055186

+
5CDS-intronENST00000252268ENST00000534785DPF2chr11

65116402

+POLA2chr11

65055186

+
intron-3CDSENST00000532264ENST00000265465DPF2chr11

65116402

+POLA2chr11

65055186

+
intron-3CDSENST00000532264ENST00000541089DPF2chr11

65116402

+POLA2chr11

65055186

+
intron-intronENST00000532264ENST00000534785DPF2chr11

65116402

+POLA2chr11

65055186

+
In-frameENST00000528416ENST00000265465DPF2chr11

65113830

+POLA2chr11

65049950

+
In-frameENST00000528416ENST00000541089DPF2chr11

65113830

+POLA2chr11

65049950

+
5CDS-intronENST00000528416ENST00000534785DPF2chr11

65113830

+POLA2chr11

65049950

+
intron-3CDSENST00000415073ENST00000265465DPF2chr11

65113830

+POLA2chr11

65049950

+
intron-3CDSENST00000415073ENST00000541089DPF2chr11

65113830

+POLA2chr11

65049950

+
intron-intronENST00000415073ENST00000534785DPF2chr11

65113830

+POLA2chr11

65049950

+
In-frameENST00000252268ENST00000265465DPF2chr11

65113830

+POLA2chr11

65049950

+
In-frameENST00000252268ENST00000541089DPF2chr11

65113830

+POLA2chr11

65049950

+
5CDS-intronENST00000252268ENST00000534785DPF2chr11

65113830

+POLA2chr11

65049950

+
intron-3CDSENST00000532264ENST00000265465DPF2chr11

65113830

+POLA2chr11

65049950

+
intron-3CDSENST00000532264ENST00000541089DPF2chr11

65113830

+POLA2chr11

65049950

+
intron-intronENST00000532264ENST00000534785DPF2chr11

65113830

+POLA2chr11

65049950

+
In-frameENST00000528416ENST00000265465DPF2chr11

65116402

+POLA2chr11

65055187

+
In-frameENST00000528416ENST00000541089DPF2chr11

65116402

+POLA2chr11

65055187

+
5CDS-intronENST00000528416ENST00000534785DPF2chr11

65116402

+POLA2chr11

65055187

+
In-frameENST00000415073ENST00000265465DPF2chr11

65116402

+POLA2chr11

65055187

+
In-frameENST00000415073ENST00000541089DPF2chr11

65116402

+POLA2chr11

65055187

+
5CDS-intronENST00000415073ENST00000534785DPF2chr11

65116402

+POLA2chr11

65055187

+
In-frameENST00000252268ENST00000265465DPF2chr11

65116402

+POLA2chr11

65055187

+
In-frameENST00000252268ENST00000541089DPF2chr11

65116402

+POLA2chr11

65055187

+
5CDS-intronENST00000252268ENST00000534785DPF2chr11

65116402

+POLA2chr11

65055187

+
intron-3CDSENST00000532264ENST00000265465DPF2chr11

65116402

+POLA2chr11

65055187

+
intron-3CDSENST00000532264ENST00000541089DPF2chr11

65116402

+POLA2chr11

65055187

+
intron-intronENST00000532264ENST00000534785DPF2chr11

65116402

+POLA2chr11

65055187

+

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 DPF2-POLA2


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)
DPF2chr1165113830+POLA2chr1165049949+2.05E-060.999998
DPF2chr1165113830+POLA2chr1165049949+2.05E-060.999998
DPF2chr1165116402+POLA2chr1165055186+1.54E-081
DPF2chr1165116402+POLA2chr1165055186+1.54E-081
DPF2chr1165113830+POLA2chr1165049949+2.05E-060.999998
DPF2chr1165113830+POLA2chr1165049949+2.05E-060.999998
DPF2chr1165116402+POLA2chr1165055186+1.54E-081
DPF2chr1165116402+POLA2chr1165055186+1.54E-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.

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Fusion Protein Features for DPF2-POLA2


check button Go to

FGviewer for the breakpoints of chr11:65113830-chr11:65049949

.
- 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
DPF2

Q92785

.
FUNCTION: Plays an active role in transcriptional regulation by binding modified histones H3 and H4 (PubMed:28533407, PubMed:27775714). Is a negative regulator of myeloid differentiation of hematopoietic progenitor cells (PubMed:28533407). Might also have a role in the development and maturation of lymphoid cells (By similarity). Involved in the regulation of non-canonical NF-kappa-B pathway (PubMed:20460684). {ECO:0000250|UniProtKB:Q61103, ECO:0000269|PubMed:20460684, ECO:0000269|PubMed:27775714, ECO:0000269|PubMed:28533407}.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.

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
HgeneDPF2chr11:65113830chr11:65049949ENST00000528416+911209_232339.0392.0Zinc fingerC2H2-type
HgeneDPF2chr11:65113830chr11:65049949ENST00000528416+911270_330339.0392.0Zinc fingerPHD-type 1
HgeneDPF2chr11:65113830chr11:65049950ENST00000528416+911209_232339.0392.0Zinc fingerC2H2-type
HgeneDPF2chr11:65113830chr11:65049950ENST00000528416+911270_330339.0392.0Zinc fingerPHD-type 1
HgeneDPF2chr11:65116402chr11:65055186ENST00000528416+1011209_232366.3333333333333392.0Zinc fingerC2H2-type
HgeneDPF2chr11:65116402chr11:65055186ENST00000528416+1011270_330366.3333333333333392.0Zinc fingerPHD-type 1
HgeneDPF2chr11:65116402chr11:65055187ENST00000528416+1011209_232366.3333333333333392.0Zinc fingerC2H2-type
HgeneDPF2chr11:65116402chr11:65055187ENST00000528416+1011270_330366.3333333333333392.0Zinc fingerPHD-type 1
TgenePOLA2chr11:65113830chr11:65049949ENST00000265465818486_489321.0599.0Compositional biasNote=Poly-Ser
TgenePOLA2chr11:65113830chr11:65049950ENST00000265465818486_489321.0599.0Compositional biasNote=Poly-Ser
TgenePOLA2chr11:65116402chr11:65055186ENST00000265465918486_489335.3333333333333599.0Compositional biasNote=Poly-Ser
TgenePOLA2chr11:65116402chr11:65055187ENST00000265465918486_489335.3333333333333599.0Compositional biasNote=Poly-Ser

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneDPF2chr11:65113830chr11:65049949ENST00000528416+911327_377339.0392.0Zinc fingerPHD-type 2
HgeneDPF2chr11:65113830chr11:65049950ENST00000528416+911327_377339.0392.0Zinc fingerPHD-type 2
HgeneDPF2chr11:65116402chr11:65055186ENST00000528416+1011327_377366.3333333333333392.0Zinc fingerPHD-type 2
HgeneDPF2chr11:65116402chr11:65055187ENST00000528416+1011327_377366.3333333333333392.0Zinc fingerPHD-type 2
TgenePOLA2chr11:65113830chr11:65049949ENST00000265465818101_107321.0599.0Compositional biasNote=Poly-Glu
TgenePOLA2chr11:65113830chr11:65049949ENST00000265465818115_157321.0599.0Compositional biasNote=Pro/Ser/Thr-rich
TgenePOLA2chr11:65113830chr11:65049950ENST00000265465818101_107321.0599.0Compositional biasNote=Poly-Glu
TgenePOLA2chr11:65113830chr11:65049950ENST00000265465818115_157321.0599.0Compositional biasNote=Pro/Ser/Thr-rich
TgenePOLA2chr11:65116402chr11:65055186ENST00000265465918101_107335.3333333333333599.0Compositional biasNote=Poly-Glu
TgenePOLA2chr11:65116402chr11:65055186ENST00000265465918115_157335.3333333333333599.0Compositional biasNote=Pro/Ser/Thr-rich
TgenePOLA2chr11:65116402chr11:65055187ENST00000265465918101_107335.3333333333333599.0Compositional biasNote=Poly-Glu
TgenePOLA2chr11:65116402chr11:65055187ENST00000265465918115_157335.3333333333333599.0Compositional biasNote=Pro/Ser/Thr-rich


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Fusion Gene Sequence for DPF2-POLA2


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 DPF2-POLA2


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 DPF2-POLA2


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 DPF2-POLA2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneDPF2C0265338Coffin-Siris syndrome1ORPHANET
HgeneDPF2C3714756Intellectual Disability1GENOMICS_ENGLAND
HgeneDPF2C4747954COFFIN-SIRIS SYNDROME 71GENOMICS_ENGLAND;UNIPROT