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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:POGZ-THEM4 (FusionGDB2 ID:66448)

Fusion Gene Summary for POGZ-THEM4

check button Fusion gene summary
Fusion gene informationFusion gene name: POGZ-THEM4
Fusion gene ID: 66448
HgeneTgene
Gene symbol

POGZ

THEM4

Gene ID

23126

117145

Gene namepogo transposable element derived with ZNF domainthioesterase superfamily member 4
SynonymsMRD37|WHSUS|ZNF280E|ZNF635|ZNF635mCTMP
Cytomap

1q21.3

1q21.3

Type of geneprotein-codingprotein-coding
Descriptionpogo transposable element with ZNF domainputative protein product of Nbla00003zinc finger protein 280Ezinc finger protein 635acyl-coenzyme A thioesterase THEM4C-terminal modulator proteinacyl-CoA thioesterase THEM4carboxyl-terminal modulator protein
Modification date2020032720200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000392723, ENST00000361398, 
ENST00000271715, ENST00000368863, 
ENST00000409503, ENST00000531094, 
ENST00000540984, ENST00000491586, 
ENST00000368814, ENST00000477437, 
ENST00000489410, 
Fusion gene scores* DoF score15 X 13 X 8=15606 X 5 X 5=150
# samples 167
** MAII scorelog2(16/1560*10)=-3.28540221886225
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(7/150*10)=-1.09953567355091
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: POGZ [Title/Abstract] AND THEM4 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointPOGZ(151400299)-THEM4(151867670), # samples:1
Anticipated loss of major functional domain due to fusion event.POGZ-THEM4 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
POGZ-THEM4 seems lost the major protein functional domain in Hgene partner, which is a epigenetic factor 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
TgeneTHEM4

GO:0006631

fatty acid metabolic process

22871024


check buttonFusion gene breakpoints across POGZ (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 THEM4 (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
ChimerDB4BRCATCGA-AN-A0FW-01APOGZchr1

151400299

-THEM4chr1

151867670

-


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Fusion Gene ORF analysis for POGZ-THEM4

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
Frame-shiftENST00000392723ENST00000368814POGZchr1

151400299

-THEM4chr1

151867670

-
5CDS-intronENST00000392723ENST00000477437POGZchr1

151400299

-THEM4chr1

151867670

-
5CDS-intronENST00000392723ENST00000489410POGZchr1

151400299

-THEM4chr1

151867670

-
Frame-shiftENST00000361398ENST00000368814POGZchr1

151400299

-THEM4chr1

151867670

-
5CDS-intronENST00000361398ENST00000477437POGZchr1

151400299

-THEM4chr1

151867670

-
5CDS-intronENST00000361398ENST00000489410POGZchr1

151400299

-THEM4chr1

151867670

-
Frame-shiftENST00000271715ENST00000368814POGZchr1

151400299

-THEM4chr1

151867670

-
5CDS-intronENST00000271715ENST00000477437POGZchr1

151400299

-THEM4chr1

151867670

-
5CDS-intronENST00000271715ENST00000489410POGZchr1

151400299

-THEM4chr1

151867670

-
Frame-shiftENST00000368863ENST00000368814POGZchr1

151400299

-THEM4chr1

151867670

-
5CDS-intronENST00000368863ENST00000477437POGZchr1

151400299

-THEM4chr1

151867670

-
5CDS-intronENST00000368863ENST00000489410POGZchr1

151400299

-THEM4chr1

151867670

-
Frame-shiftENST00000409503ENST00000368814POGZchr1

151400299

-THEM4chr1

151867670

-
5CDS-intronENST00000409503ENST00000477437POGZchr1

151400299

-THEM4chr1

151867670

-
5CDS-intronENST00000409503ENST00000489410POGZchr1

151400299

-THEM4chr1

151867670

-
Frame-shiftENST00000531094ENST00000368814POGZchr1

151400299

-THEM4chr1

151867670

-
5CDS-intronENST00000531094ENST00000477437POGZchr1

151400299

-THEM4chr1

151867670

-
5CDS-intronENST00000531094ENST00000489410POGZchr1

151400299

-THEM4chr1

151867670

-
intron-3CDSENST00000540984ENST00000368814POGZchr1

151400299

-THEM4chr1

151867670

-
intron-intronENST00000540984ENST00000477437POGZchr1

151400299

-THEM4chr1

151867670

-
intron-intronENST00000540984ENST00000489410POGZchr1

151400299

-THEM4chr1

151867670

-
Frame-shiftENST00000491586ENST00000368814POGZchr1

151400299

-THEM4chr1

151867670

-
5CDS-intronENST00000491586ENST00000477437POGZchr1

151400299

-THEM4chr1

151867670

-
5CDS-intronENST00000491586ENST00000489410POGZchr1

151400299

-THEM4chr1

151867670

-

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 POGZ-THEM4


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 POGZ-THEM4


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
..
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: 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

- 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 POGZ-THEM4


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 POGZ-THEM4


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 POGZ-THEM4


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 POGZ-THEM4


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePOGZC1535926Neurodevelopmental Disorders1CTD_human
HgenePOGZC3714756Intellectual Disability1GENOMICS_ENGLAND
HgenePOGZC4225351White Sutton syndrome1CTD_human;ORPHANET
TgeneTHEM4C2239176Liver carcinoma1CTD_human