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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:MADD-DDB2 (FusionGDB2 ID:50692)

Fusion Gene Summary for MADD-DDB2

check button Fusion gene summary
Fusion gene informationFusion gene name: MADD-DDB2
Fusion gene ID: 50692
HgeneTgene
Gene symbol

MADD

DDB2

Gene ID

8567

1643

Gene nameMAP kinase activating death domaindamage specific DNA binding protein 2
SynonymsDENN|IG20|RAB3GEPDDBB|UV-DDB2|XPE
Cytomap

11p11.2

11p11.2

Type of geneprotein-codingprotein-coding
DescriptionMAP kinase-activating death domain proteinRab3 GDP/GTP exchange factordifferentially expressed in normal and neoplastic cellsinsulinoma glucagonoma clone 20DNA damage-binding protein 2DDB p48 subunitUV-DDB 2UV-damaged DNA-binding protein 2damage-specific DNA binding protein 2, 48kDaxeroderma pigmentosum group E protein
Modification date2020031320200327
UniProtAcc

Q8WXG6

Q92466

Ensembl transtripts involved in fusion geneENST00000311027, ENST00000342922, 
ENST00000349238, ENST00000395336, 
ENST00000395344, ENST00000402192, 
ENST00000402799, ENST00000405573, 
ENST00000406482, ENST00000407859, 
ENST00000489415, 		ENST00000256996, 
ENST00000378600, ENST00000378601, 
ENST00000378603, 
Fusion gene scores* DoF score6 X 7 X 4=16812 X 6 X 7=504
# samples 711
** MAII scorelog2(7/168*10)=-1.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(11/504*10)=-2.19592020997526
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

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

Most frequent breakpointMADD(47317606)-DDB2(47254365), # 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
HgeneMADD

GO:0032483

regulation of Rab protein signal transduction

20937701

HgeneMADD

GO:2001236

regulation of extrinsic apoptotic signaling pathway

11577081

TgeneDDB2

GO:0000209

protein polyubiquitination

12732143

TgeneDDB2

GO:0009411

response to UV

12732143

TgeneDDB2

GO:0035518

histone H2A monoubiquitination

22334663

TgeneDDB2

GO:0051865

protein autoubiquitination

12732143

TgeneDDB2

GO:0070914

UV-damage excision repair

22334663


check buttonFusion gene breakpoints across MADD (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 DDB2 (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
ChimerDB4CESCTCGA-C5-A7X5-01AMADDchr11

47317606

-DDB2chr11

47254365

+
ChimerDB4CESCTCGA-C5-A7X5-01AMADDchr11

47317606

+DDB2chr11

47254365

+


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Fusion Gene ORF analysis for MADD-DDB2

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-intronENST00000311027ENST00000256996MADDchr11

47317606

+DDB2chr11

47254365

+
5CDS-intronENST00000311027ENST00000378600MADDchr11

47317606

+DDB2chr11

47254365

+
5CDS-intronENST00000311027ENST00000378601MADDchr11

47317606

+DDB2chr11

47254365

+
5CDS-intronENST00000311027ENST00000378603MADDchr11

47317606

+DDB2chr11

47254365

+
5CDS-intronENST00000342922ENST00000256996MADDchr11

47317606

+DDB2chr11

47254365

+
5CDS-intronENST00000342922ENST00000378600MADDchr11

47317606

+DDB2chr11

47254365

+
5CDS-intronENST00000342922ENST00000378601MADDchr11

47317606

+DDB2chr11

47254365

+
5CDS-intronENST00000342922ENST00000378603MADDchr11

47317606

+DDB2chr11

47254365

+
5CDS-intronENST00000349238ENST00000256996MADDchr11

47317606

+DDB2chr11

47254365

+
5CDS-intronENST00000349238ENST00000378600MADDchr11

47317606

+DDB2chr11

47254365

+
5CDS-intronENST00000349238ENST00000378601MADDchr11

47317606

+DDB2chr11

47254365

+
5CDS-intronENST00000349238ENST00000378603MADDchr11

47317606

+DDB2chr11

47254365

+
5CDS-intronENST00000395336ENST00000256996MADDchr11

47317606

+DDB2chr11

47254365

+
5CDS-intronENST00000395336ENST00000378600MADDchr11

47317606

+DDB2chr11

47254365

+
5CDS-intronENST00000395336ENST00000378601MADDchr11

47317606

+DDB2chr11

47254365

+
5CDS-intronENST00000395336ENST00000378603MADDchr11

47317606

+DDB2chr11

47254365

+
5CDS-intronENST00000395344ENST00000256996MADDchr11

47317606

+DDB2chr11

47254365

+
5CDS-intronENST00000395344ENST00000378600MADDchr11

47317606

+DDB2chr11

47254365

+
5CDS-intronENST00000395344ENST00000378601MADDchr11

47317606

+DDB2chr11

47254365

+
5CDS-intronENST00000395344ENST00000378603MADDchr11

47317606

+DDB2chr11

47254365

+
5CDS-intronENST00000402192ENST00000256996MADDchr11

47317606

+DDB2chr11

47254365

+
5CDS-intronENST00000402192ENST00000378600MADDchr11

47317606

+DDB2chr11

47254365

+
5CDS-intronENST00000402192ENST00000378601MADDchr11

47317606

+DDB2chr11

47254365

+
5CDS-intronENST00000402192ENST00000378603MADDchr11

47317606

+DDB2chr11

47254365

+
5CDS-intronENST00000402799ENST00000256996MADDchr11

47317606

+DDB2chr11

47254365

+
5CDS-intronENST00000402799ENST00000378600MADDchr11

47317606

+DDB2chr11

47254365

+
5CDS-intronENST00000402799ENST00000378601MADDchr11

47317606

+DDB2chr11

47254365

+
5CDS-intronENST00000402799ENST00000378603MADDchr11

47317606

+DDB2chr11

47254365

+
5CDS-intronENST00000405573ENST00000256996MADDchr11

47317606

+DDB2chr11

47254365

+
5CDS-intronENST00000405573ENST00000378600MADDchr11

47317606

+DDB2chr11

47254365

+
5CDS-intronENST00000405573ENST00000378601MADDchr11

47317606

+DDB2chr11

47254365

+
5CDS-intronENST00000405573ENST00000378603MADDchr11

47317606

+DDB2chr11

47254365

+
5CDS-intronENST00000406482ENST00000256996MADDchr11

47317606

+DDB2chr11

47254365

+
5CDS-intronENST00000406482ENST00000378600MADDchr11

47317606

+DDB2chr11

47254365

+
5CDS-intronENST00000406482ENST00000378601MADDchr11

47317606

+DDB2chr11

47254365

+
5CDS-intronENST00000406482ENST00000378603MADDchr11

47317606

+DDB2chr11

47254365

+
5CDS-intronENST00000407859ENST00000256996MADDchr11

47317606

+DDB2chr11

47254365

+
5CDS-intronENST00000407859ENST00000378600MADDchr11

47317606

+DDB2chr11

47254365

+
5CDS-intronENST00000407859ENST00000378601MADDchr11

47317606

+DDB2chr11

47254365

+
5CDS-intronENST00000407859ENST00000378603MADDchr11

47317606

+DDB2chr11

47254365

+
intron-intronENST00000489415ENST00000256996MADDchr11

47317606

+DDB2chr11

47254365

+
intron-intronENST00000489415ENST00000378600MADDchr11

47317606

+DDB2chr11

47254365

+
intron-intronENST00000489415ENST00000378601MADDchr11

47317606

+DDB2chr11

47254365

+
intron-intronENST00000489415ENST00000378603MADDchr11

47317606

+DDB2chr11

47254365

+

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 MADD-DDB2


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.
genomic feature

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 MADD-DDB2


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/:47317606/:47254365)
- 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
MADD

Q8WXG6

DDB2

Q92466

FUNCTION: Plays a significant role in regulating cell proliferation, survival and death through alternative mRNA splicing. Isoform 5 shows increased cell proliferation and isoform 2 shows decreased. Converts GDP-bound inactive form of RAB3A, RAB3C and RAB3D to the GTP-bound active forms. Component of the TNFRSF1A signaling complex: MADD links TNFRSF1A with MAP kinase activation. Plays an important regulatory role in physiological cell death (TNF-alpha-induced, caspase-mediated apoptosis); isoform 1 is susceptible to inducing apoptosis, isoform 5 is resistant and isoform 3 and isoform 4 have no effect. {ECO:0000269|PubMed:11577081, ECO:0000269|PubMed:14716293, ECO:0000269|PubMed:14735464, ECO:0000269|PubMed:15007167, ECO:0000269|PubMed:20937701, ECO:0000269|PubMed:9115275}.FUNCTION: Protein, which is both involved in DNA repair and protein ubiquitination, as part of the UV-DDB complex and DCX (DDB1-CUL4-X-box) complexes, respectively (PubMed:10882109, PubMed:11278856, PubMed:11705987, PubMed:9892649, PubMed:12732143, PubMed:15882621, PubMed:16473935, PubMed:18593899). Core component of the UV-DDB complex (UV-damaged DNA-binding protein complex), a complex that recognizes UV-induced DNA damage and recruit proteins of the nucleotide excision repair pathway (the NER pathway) to initiate DNA repair (PubMed:10882109, PubMed:11278856, PubMed:11705987, PubMed:16260596, PubMed:12944386, PubMed:14751237). The UV-DDB complex preferentially binds to cyclobutane pyrimidine dimers (CPD), 6-4 photoproducts (6-4 PP), apurinic sites and short mismatches (PubMed:10882109, PubMed:11278856, PubMed:11705987, PubMed:16260596, PubMed:12944386). Also functions as the substrate recognition module for the DCX (DDB2-CUL4-X-box) E3 ubiquitin-protein ligase complex DDB2-CUL4-ROC1 (also known as CUL4-DDB-ROC1 and CUL4-DDB-RBX1) (PubMed:12732143, PubMed:15882621, PubMed:16473935, PubMed:18593899, PubMed:26572825). The DDB2-CUL4-ROC1 complex may ubiquitinate histone H2A, histone H3 and histone H4 at sites of UV-induced DNA damage (PubMed:16678110, PubMed:16473935). The ubiquitination of histones may facilitate their removal from the nucleosome and promote subsequent DNA repair (PubMed:16678110, PubMed:16473935). The DDB2-CUL4-ROC1 complex also ubiquitinates XPC, which may enhance DNA-binding by XPC and promote NER (PubMed:15882621). The DDB2-CUL4-ROC1 complex also ubiquitinates KAT7/HBO1 in response to DNA damage, leading to its degradation: recognizes KAT7/HBO1 following phosphorylation by ATR (PubMed:26572825). {ECO:0000269|PubMed:10882109, ECO:0000269|PubMed:11278856, ECO:0000269|PubMed:11705987, ECO:0000269|PubMed:12732143, ECO:0000269|PubMed:12944386, ECO:0000269|PubMed:14751237, ECO:0000269|PubMed:15882621, ECO:0000269|PubMed:16260596, ECO:0000269|PubMed:16473935, ECO:0000269|PubMed:16678110, ECO:0000269|PubMed:18593899, ECO:0000269|PubMed:26572825, ECO:0000269|PubMed:9892649}.; FUNCTION: [Isoform D1]: Inhibits UV-damaged DNA repair. {ECO:0000269|PubMed:14751237}.; FUNCTION: [Isoform D2]: Inhibits UV-damaged DNA repair. {ECO:0000269|PubMed:14751237}.

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 MADD-DDB2


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 MADD-DDB2


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 MADD-DDB2


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 MADD-DDB2


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