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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:TPD52L2-XRCC4 (FusionGDB2 ID:92666)

Fusion Gene Summary for TPD52L2-XRCC4

check button Fusion gene summary
Fusion gene informationFusion gene name: TPD52L2-XRCC4
Fusion gene ID: 92666
HgeneTgene
Gene symbol

TPD52L2

XRCC4

Gene ID

7165

7518

Gene nameTPD52 like 2X-ray repair cross complementing 4
SynonymsD54|TPD54SSMED
Cytomap

20q13.33

5q14.2

Type of geneprotein-codingprotein-coding
Descriptiontumor protein D54HCCR-binding protein 2tumor protein D52 like 2DNA repair protein XRCC4X-ray repair complementing defective repair in Chinese hamster cells 4
Modification date2020031320200320
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000369927, ENST00000346249, 
ENST00000348257, ENST00000352482, 
ENST00000358548, ENST00000351424, 
ENST00000217121, 		ENST00000282268, 
ENST00000338635, ENST00000396027, 
ENST00000511817, ENST00000509268, 
Fusion gene scores* DoF score7 X 9 X 4=2529 X 8 X 4=288
# samples 99
** MAII scorelog2(9/252*10)=-1.48542682717024
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(9/288*10)=-1.67807190511264
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: TPD52L2 [Title/Abstract] AND XRCC4 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointTPD52L2(62522683)-XRCC4(82648950), # 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
TgeneXRCC4

GO:0006302

double-strand break repair

9242410

TgeneXRCC4

GO:0006303

double-strand break repair via nonhomologous end joining

12517771

TgeneXRCC4

GO:0010165

response to X-ray

9242410

TgeneXRCC4

GO:0051103

DNA ligation involved in DNA repair

12517771

TgeneXRCC4

GO:0051351

positive regulation of ligase activity

9242410


check buttonFusion gene breakpoints across TPD52L2 (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 XRCC4 (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/ABG282107TPD52L2chr20

62522683

-XRCC4chr5

82648950

+


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Fusion Gene ORF analysis for TPD52L2-XRCC4

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-3CDSENST00000369927ENST00000282268TPD52L2chr20

62522683

-XRCC4chr5

82648950

+
intron-3CDSENST00000369927ENST00000338635TPD52L2chr20

62522683

-XRCC4chr5

82648950

+
intron-3CDSENST00000369927ENST00000396027TPD52L2chr20

62522683

-XRCC4chr5

82648950

+
intron-3CDSENST00000369927ENST00000511817TPD52L2chr20

62522683

-XRCC4chr5

82648950

+
intron-intronENST00000369927ENST00000509268TPD52L2chr20

62522683

-XRCC4chr5

82648950

+
3UTR-3CDSENST00000346249ENST00000282268TPD52L2chr20

62522683

-XRCC4chr5

82648950

+
3UTR-3CDSENST00000346249ENST00000338635TPD52L2chr20

62522683

-XRCC4chr5

82648950

+
3UTR-3CDSENST00000346249ENST00000396027TPD52L2chr20

62522683

-XRCC4chr5

82648950

+
3UTR-3CDSENST00000346249ENST00000511817TPD52L2chr20

62522683

-XRCC4chr5

82648950

+
3UTR-intronENST00000346249ENST00000509268TPD52L2chr20

62522683

-XRCC4chr5

82648950

+
3UTR-3CDSENST00000348257ENST00000282268TPD52L2chr20

62522683

-XRCC4chr5

82648950

+
3UTR-3CDSENST00000348257ENST00000338635TPD52L2chr20

62522683

-XRCC4chr5

82648950

+
3UTR-3CDSENST00000348257ENST00000396027TPD52L2chr20

62522683

-XRCC4chr5

82648950

+
3UTR-3CDSENST00000348257ENST00000511817TPD52L2chr20

62522683

-XRCC4chr5

82648950

+
3UTR-intronENST00000348257ENST00000509268TPD52L2chr20

62522683

-XRCC4chr5

82648950

+
3UTR-3CDSENST00000352482ENST00000282268TPD52L2chr20

62522683

-XRCC4chr5

82648950

+
3UTR-3CDSENST00000352482ENST00000338635TPD52L2chr20

62522683

-XRCC4chr5

82648950

+
3UTR-3CDSENST00000352482ENST00000396027TPD52L2chr20

62522683

-XRCC4chr5

82648950

+
3UTR-3CDSENST00000352482ENST00000511817TPD52L2chr20

62522683

-XRCC4chr5

82648950

+
3UTR-intronENST00000352482ENST00000509268TPD52L2chr20

62522683

-XRCC4chr5

82648950

+
3UTR-3CDSENST00000358548ENST00000282268TPD52L2chr20

62522683

-XRCC4chr5

82648950

+
3UTR-3CDSENST00000358548ENST00000338635TPD52L2chr20

62522683

-XRCC4chr5

82648950

+
3UTR-3CDSENST00000358548ENST00000396027TPD52L2chr20

62522683

-XRCC4chr5

82648950

+
3UTR-3CDSENST00000358548ENST00000511817TPD52L2chr20

62522683

-XRCC4chr5

82648950

+
3UTR-intronENST00000358548ENST00000509268TPD52L2chr20

62522683

-XRCC4chr5

82648950

+
3UTR-3CDSENST00000351424ENST00000282268TPD52L2chr20

62522683

-XRCC4chr5

82648950

+
3UTR-3CDSENST00000351424ENST00000338635TPD52L2chr20

62522683

-XRCC4chr5

82648950

+
3UTR-3CDSENST00000351424ENST00000396027TPD52L2chr20

62522683

-XRCC4chr5

82648950

+
3UTR-3CDSENST00000351424ENST00000511817TPD52L2chr20

62522683

-XRCC4chr5

82648950

+
3UTR-intronENST00000351424ENST00000509268TPD52L2chr20

62522683

-XRCC4chr5

82648950

+
3UTR-3CDSENST00000217121ENST00000282268TPD52L2chr20

62522683

-XRCC4chr5

82648950

+
3UTR-3CDSENST00000217121ENST00000338635TPD52L2chr20

62522683

-XRCC4chr5

82648950

+
3UTR-3CDSENST00000217121ENST00000396027TPD52L2chr20

62522683

-XRCC4chr5

82648950

+
3UTR-3CDSENST00000217121ENST00000511817TPD52L2chr20

62522683

-XRCC4chr5

82648950

+
3UTR-intronENST00000217121ENST00000509268TPD52L2chr20

62522683

-XRCC4chr5

82648950

+

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 TPD52L2-XRCC4


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 TPD52L2-XRCC4


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 TPD52L2-XRCC4


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 TPD52L2-XRCC4


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 TPD52L2-XRCC4


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 TPD52L2-XRCC4


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneXRCC4C4225288SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION5GENOMICS_ENGLAND;UNIPROT
TgeneXRCC4C0004403Autosome Abnormalities1CTD_human
TgeneXRCC4C0008625Chromosome Aberrations1CTD_human
TgeneXRCC4C0009405Hereditary Nonpolyposis Colorectal Neoplasms1CLINGEN
TgeneXRCC4C0013336Dwarfism1GENOMICS_ENGLAND
TgeneXRCC4C0036341Schizophrenia1PSYGENET
TgeneXRCC4C0265202Seckel syndrome1GENOMICS_ENGLAND
TgeneXRCC4C0342573PITUITARY DWARFISM I1GENOMICS_ENGLAND
TgeneXRCC4C1112155Hereditary non-polyposis colorectal cancer syndrome1CLINGEN
TgeneXRCC4C1292778Chronic myeloproliferative disorder1GENOMICS_ENGLAND
TgeneXRCC4C1333990Hereditary Nonpolyposis Colorectal Cancer1CLINGEN
TgeneXRCC4C1333991Hereditary Non-Polyposis Colon Cancer Type 21CLINGEN
TgeneXRCC4C1847827LIG4 Syndrome1ORPHANET
TgeneXRCC4C2936783Colorectal cancer, hereditary nonpolyposis, type 11CLINGEN
TgeneXRCC4C3808988FANCONI ANEMIA, COMPLEMENTATION GROUP Q1GENOMICS_ENGLAND