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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:DDB2-ATG13 (FusionGDB2 ID:21782)

Fusion Gene Summary for DDB2-ATG13

check button Fusion gene summary
Fusion gene informationFusion gene name: DDB2-ATG13
Fusion gene ID: 21782
HgeneTgene
Gene symbol

DDB2

ATG13

Gene ID

1643

9776

Gene namedamage specific DNA binding protein 2autophagy related 13
SynonymsDDBB|UV-DDB2|XPEKIAA0652|PARATARG8
Cytomap

11p11.2

11p11.2

Type of geneprotein-codingprotein-coding
DescriptionDNA damage-binding protein 2DDB p48 subunitUV-DDB 2UV-damaged DNA-binding protein 2damage-specific DNA binding protein 2, 48kDaxeroderma pigmentosum group E proteinautophagy-related protein 13ATG13 autophagy related 13 homolog
Modification date2020032720200327
UniProtAcc.

O75143

Ensembl transtripts involved in fusion geneENST00000256996, ENST00000378600, 
ENST00000378601, ENST00000378603, 
ENST00000526485, ENST00000312040, 
ENST00000359513, ENST00000434074, 
ENST00000451945, ENST00000524625, 
ENST00000526508, ENST00000528494, 
ENST00000529655, ENST00000530500, 
Fusion gene scores* DoF score3 X 2 X 3=187 X 6 X 7=294
# samples 38
** MAII scorelog2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(8/294*10)=-1.877744249949
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: DDB2 [Title/Abstract] AND ATG13 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointDDB2(47238600)-ATG13(46680941), # samples:1
Anticipated loss of major functional domain due to fusion event.DDB2-ATG13 seems lost the major protein functional domain in Hgene partner, which is a CGC due to the frame-shifted ORF.
DDB2-ATG13 seems lost the major protein functional domain in Hgene partner, which is a epigenetic factor due to the frame-shifted ORF.
DDB2-ATG13 seems lost the major protein functional domain in Hgene partner, which is a tumor suppressor due to the frame-shifted ORF.
DDB2-ATG13 seems lost the major protein functional domain in Tgene partner, which is a essential 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
HgeneDDB2

GO:0000209

protein polyubiquitination

12732143

HgeneDDB2

GO:0009411

response to UV

12732143

HgeneDDB2

GO:0035518

histone H2A monoubiquitination

22334663

HgeneDDB2

GO:0051865

protein autoubiquitination

12732143

HgeneDDB2

GO:0070914

UV-damage excision repair

22334663


check buttonFusion gene breakpoints across DDB2 (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 ATG13 (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
ChimerDB4ESCATCGA-L5-A4OSDDB2chr11

47238600

+ATG13chr11

46680941

+


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Fusion Gene ORF analysis for DDB2-ATG13

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
5CDS-intronENST00000256996ENST00000526485DDB2chr11

47238600

+ATG13chr11

46680941

+
5CDS-intronENST00000378600ENST00000526485DDB2chr11

47238600

+ATG13chr11

46680941

+
5CDS-intronENST00000378601ENST00000526485DDB2chr11

47238600

+ATG13chr11

46680941

+
Frame-shiftENST00000256996ENST00000312040DDB2chr11

47238600

+ATG13chr11

46680941

+
Frame-shiftENST00000256996ENST00000359513DDB2chr11

47238600

+ATG13chr11

46680941

+
Frame-shiftENST00000256996ENST00000434074DDB2chr11

47238600

+ATG13chr11

46680941

+
Frame-shiftENST00000256996ENST00000451945DDB2chr11

47238600

+ATG13chr11

46680941

+
Frame-shiftENST00000256996ENST00000524625DDB2chr11

47238600

+ATG13chr11

46680941

+
Frame-shiftENST00000256996ENST00000526508DDB2chr11

47238600

+ATG13chr11

46680941

+
Frame-shiftENST00000256996ENST00000528494DDB2chr11

47238600

+ATG13chr11

46680941

+
Frame-shiftENST00000256996ENST00000529655DDB2chr11

47238600

+ATG13chr11

46680941

+
Frame-shiftENST00000256996ENST00000530500DDB2chr11

47238600

+ATG13chr11

46680941

+
Frame-shiftENST00000378600ENST00000312040DDB2chr11

47238600

+ATG13chr11

46680941

+
Frame-shiftENST00000378600ENST00000359513DDB2chr11

47238600

+ATG13chr11

46680941

+
Frame-shiftENST00000378600ENST00000434074DDB2chr11

47238600

+ATG13chr11

46680941

+
Frame-shiftENST00000378600ENST00000451945DDB2chr11

47238600

+ATG13chr11

46680941

+
Frame-shiftENST00000378600ENST00000524625DDB2chr11

47238600

+ATG13chr11

46680941

+
Frame-shiftENST00000378600ENST00000526508DDB2chr11

47238600

+ATG13chr11

46680941

+
Frame-shiftENST00000378600ENST00000528494DDB2chr11

47238600

+ATG13chr11

46680941

+
Frame-shiftENST00000378600ENST00000529655DDB2chr11

47238600

+ATG13chr11

46680941

+
Frame-shiftENST00000378600ENST00000530500DDB2chr11

47238600

+ATG13chr11

46680941

+
Frame-shiftENST00000378601ENST00000312040DDB2chr11

47238600

+ATG13chr11

46680941

+
Frame-shiftENST00000378601ENST00000359513DDB2chr11

47238600

+ATG13chr11

46680941

+
Frame-shiftENST00000378601ENST00000434074DDB2chr11

47238600

+ATG13chr11

46680941

+
Frame-shiftENST00000378601ENST00000451945DDB2chr11

47238600

+ATG13chr11

46680941

+
Frame-shiftENST00000378601ENST00000524625DDB2chr11

47238600

+ATG13chr11

46680941

+
Frame-shiftENST00000378601ENST00000526508DDB2chr11

47238600

+ATG13chr11

46680941

+
Frame-shiftENST00000378601ENST00000528494DDB2chr11

47238600

+ATG13chr11

46680941

+
Frame-shiftENST00000378601ENST00000529655DDB2chr11

47238600

+ATG13chr11

46680941

+
Frame-shiftENST00000378601ENST00000530500DDB2chr11

47238600

+ATG13chr11

46680941

+
intron-3CDSENST00000378603ENST00000312040DDB2chr11

47238600

+ATG13chr11

46680941

+
intron-3CDSENST00000378603ENST00000359513DDB2chr11

47238600

+ATG13chr11

46680941

+
intron-3CDSENST00000378603ENST00000434074DDB2chr11

47238600

+ATG13chr11

46680941

+
intron-3CDSENST00000378603ENST00000451945DDB2chr11

47238600

+ATG13chr11

46680941

+
intron-3CDSENST00000378603ENST00000524625DDB2chr11

47238600

+ATG13chr11

46680941

+
intron-3CDSENST00000378603ENST00000526508DDB2chr11

47238600

+ATG13chr11

46680941

+
intron-3CDSENST00000378603ENST00000528494DDB2chr11

47238600

+ATG13chr11

46680941

+
intron-3CDSENST00000378603ENST00000529655DDB2chr11

47238600

+ATG13chr11

46680941

+
intron-3CDSENST00000378603ENST00000530500DDB2chr11

47238600

+ATG13chr11

46680941

+
intron-intronENST00000378603ENST00000526485DDB2chr11

47238600

+ATG13chr11

46680941

+

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 DDB2-ATG13


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)
DDB2chr1147238600+ATG13chr1146680941+0.0003167360.99968326
DDB2chr1147238600+ATG13chr1146680941+0.0003167360.99968326

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.
genomic feature of top 1%

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Fusion Protein Features for DDB2-ATG13


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/:47238600/:46680941)
- 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
.ATG13

O75143

FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.FUNCTION: Autophagy factor required for autophagosome formation and mitophagy. Target of the TOR kinase signaling pathway that regulates autophagy through the control of the phosphorylation status of ATG13 and ULK1, and the regulation of the ATG13-ULK1-RB1CC1 complex. Through its regulation of ULK1 activity, plays a role in the regulation of the kinase activity of mTORC1 and cell proliferation. {ECO:0000269|PubMed:18936157, ECO:0000269|PubMed:19211835, ECO:0000269|PubMed:19225151, ECO:0000269|PubMed:19287211, ECO:0000269|PubMed:21795849, ECO:0000269|PubMed:21855797}.

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 DDB2-ATG13


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 DDB2-ATG13


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 DDB2-ATG13


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 DDB2-ATG13


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