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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:DDB1-DAK (FusionGDB2 ID:21766)

Fusion Gene Summary for DDB1-DAK

check button Fusion gene summary
Fusion gene informationFusion gene name: DDB1-DAK
Fusion gene ID: 21766
HgeneTgene
Gene symbol

DDB1

DAK

Gene ID

1642

26007

Gene namedamage specific DNA binding protein 1triokinase and FMN cyclase
SynonymsDDBA|UV-DDB1|XAP1|XPCE|XPE|XPE-BFDAK|NET45|TKFCD
Cytomap

11q12.2

11q12.2

Type of geneprotein-codingprotein-coding
DescriptionDNA damage-binding protein 1DDB p127 subunitDNA damage-binding protein aHBV X-associated protein 1UV-DDB 1UV-damaged DNA-binding factorUV-damaged DNA-binding protein 1XAP-1XPE-binding factordamage-specific DNA binding protein 1, 127kDaxeroderma triokinase/FMN cyclaseATP-dependent dihydroxyacetone kinaseDHA kinaseDha kinase/FMN cyclaseFAD-AMP lyase cyclic FMN formingFAD-AMP lyase cyclizingbifunctional ATP-dependent dihydroxyacetone kinase/FAD-AMP lyase (cyclizing)dihydroxyacetone kinase 2
Modification date2020032720200314
UniProtAcc

Q16531

.
Ensembl transtripts involved in fusion geneENST00000301764, ENST00000450997, 
ENST00000451943, ENST00000538470, 
ENST00000545930, 		ENST00000394900, 
ENST00000530057, 
Fusion gene scores* DoF score12 X 17 X 6=12241 X 2 X 1=2
# samples 162
** MAII scorelog2(16/1224*10)=-2.93545974780529
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(2/2*10)=3.32192809488736
Context

PubMed: DDB1 [Title/Abstract] AND DAK [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointDDB1(61100379)-DAK(61105412), # samples:1
DDB1(61100380)-DAK(61105413), # 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
HgeneDDB1

GO:0006511

ubiquitin-dependent protein catabolic process

11673459

HgeneDDB1

GO:0016567

protein ubiquitination

26431207|28886238

HgeneDDB1

GO:0035518

histone H2A monoubiquitination

22334663

HgeneDDB1

GO:0051702

interaction with symbiont

23137809

HgeneDDB1

GO:0070914

UV-damage excision repair

22334663

TgeneDAK

GO:0039534

negative regulation of MDA-5 signaling pathway

17600090

TgeneDAK

GO:0044262

cellular carbohydrate metabolic process

4688871|16289032

TgeneDAK

GO:0045088

regulation of innate immune response

16289032

TgeneDAK

GO:0046835

carbohydrate phosphorylation

4688871


check buttonFusion gene breakpoints across DDB1 (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 DAK (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-AO-A1KTDDB1chr11

61100379

-DAKchr11

61105412

+
ChimerDB4BRCATCGA-AO-A1KT-01ADDB1chr11

61100380

-DAKchr11

61105413

+


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Fusion Gene ORF analysis for DDB1-DAK

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-frameENST00000301764ENST00000394900DDB1chr11

61100379

-DAKchr11

61105412

+
5CDS-3UTRENST00000301764ENST00000530057DDB1chr11

61100379

-DAKchr11

61105412

+
In-frameENST00000450997ENST00000394900DDB1chr11

61100379

-DAKchr11

61105412

+
5CDS-3UTRENST00000450997ENST00000530057DDB1chr11

61100379

-DAKchr11

61105412

+
intron-3CDSENST00000451943ENST00000394900DDB1chr11

61100379

-DAKchr11

61105412

+
intron-3UTRENST00000451943ENST00000530057DDB1chr11

61100379

-DAKchr11

61105412

+
intron-3CDSENST00000538470ENST00000394900DDB1chr11

61100379

-DAKchr11

61105412

+
intron-3UTRENST00000538470ENST00000530057DDB1chr11

61100379

-DAKchr11

61105412

+
intron-3CDSENST00000545930ENST00000394900DDB1chr11

61100379

-DAKchr11

61105412

+
intron-3UTRENST00000545930ENST00000530057DDB1chr11

61100379

-DAKchr11

61105412

+
In-frameENST00000301764ENST00000394900DDB1chr11

61100380

-DAKchr11

61105413

+
5CDS-3UTRENST00000301764ENST00000530057DDB1chr11

61100380

-DAKchr11

61105413

+
In-frameENST00000450997ENST00000394900DDB1chr11

61100380

-DAKchr11

61105413

+
5CDS-3UTRENST00000450997ENST00000530057DDB1chr11

61100380

-DAKchr11

61105413

+
intron-3CDSENST00000451943ENST00000394900DDB1chr11

61100380

-DAKchr11

61105413

+
intron-3UTRENST00000451943ENST00000530057DDB1chr11

61100380

-DAKchr11

61105413

+
intron-3CDSENST00000538470ENST00000394900DDB1chr11

61100380

-DAKchr11

61105413

+
intron-3UTRENST00000538470ENST00000530057DDB1chr11

61100380

-DAKchr11

61105413

+
intron-3CDSENST00000545930ENST00000394900DDB1chr11

61100380

-DAKchr11

61105413

+
intron-3UTRENST00000545930ENST00000530057DDB1chr11

61100380

-DAKchr11

61105413

+

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 DDB1-DAK


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)
DDB1chr1161100379-DAKchr1161105412+1.02E-131
DDB1chr1161100379-DAKchr1161105412+1.02E-131
DDB1chr1161100379-DAKchr1161105412+1.02E-131
DDB1chr1161100379-DAKchr1161105412+1.02E-131

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 DDB1-DAK


check button Go to

FGviewer for the breakpoints of chr11:61100379-chr11:61105412

.
- 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
DDB1

Q16531

.
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:15448697, PubMed:14739464, PubMed:16260596, PubMed:16482215, PubMed:17079684, PubMed:16407242, PubMed:16407252, PubMed:16940174). 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:15448697, PubMed:16260596, PubMed:16407242, PubMed:16940174). The UV-DDB complex preferentially binds to cyclobutane pyrimidine dimers (CPD), 6-4 photoproducts (6-4 PP), apurinic sites and short mismatches (PubMed:15448697, PubMed:16260596, PubMed:16407242, PubMed:16940174). Also functions as a component of numerous distinct DCX (DDB1-CUL4-X-box) E3 ubiquitin-protein ligase complexes which mediate the ubiquitination and subsequent proteasomal degradation of target proteins (PubMed:14739464, PubMed:16407252, PubMed:16482215, PubMed:17079684, PubMed:25043012, PubMed:25108355, PubMed:18332868, PubMed:18381890, PubMed:19966799, PubMed:22118460, PubMed:28886238). The functional specificity of the DCX E3 ubiquitin-protein ligase complex is determined by the variable substrate recognition component recruited by DDB1 (PubMed:14739464, PubMed:16407252, PubMed:16482215, PubMed:17079684, PubMed:25043012, PubMed:25108355, PubMed:18332868, PubMed:18381890, PubMed:19966799, PubMed:22118460). DCX(DDB2) (also known as DDB1-CUL4-ROC1, CUL4-DDB-ROC1 and CUL4-DDB-RBX1) may ubiquitinate histone H2A, histone H3 and histone H4 at sites of UV-induced DNA damage (PubMed:16678110, PubMed:17041588, PubMed:16473935, PubMed:18593899). The ubiquitination of histones may facilitate their removal from the nucleosome and promote subsequent DNA repair (PubMed:16678110, PubMed:17041588, PubMed:16473935, PubMed:18593899). DCX(DDB2) also ubiquitinates XPC, which may enhance DNA-binding by XPC and promote NER (PubMed:15882621). DCX(DTL) plays a role in PCNA-dependent polyubiquitination of CDT1 and MDM2-dependent ubiquitination of TP53 in response to radiation-induced DNA damage and during DNA replication (PubMed:17041588). DCX(ERCC8) (the CSA complex) plays a role in transcription-coupled repair (TCR) (PubMed:12732143). The DDB1-CUL4A-DTL E3 ligase complex regulates the circadian clock function by mediating the ubiquitination and degradation of CRY1 (PubMed:26431207). DDB1-mediated CRY1 degradation promotes FOXO1 protein stability and FOXO1-mediated gluconeogenesis in the liver (By similarity). {ECO:0000250|UniProtKB:Q3U1J4, ECO:0000269|PubMed:12732143, ECO:0000269|PubMed:14739464, ECO:0000269|PubMed:15448697, ECO:0000269|PubMed:15882621, ECO:0000269|PubMed:16260596, ECO:0000269|PubMed:16407242, ECO:0000269|PubMed:16407252, ECO:0000269|PubMed:16473935, ECO:0000269|PubMed:16482215, ECO:0000269|PubMed:16678110, ECO:0000269|PubMed:16940174, ECO:0000269|PubMed:17041588, ECO:0000269|PubMed:17079684, ECO:0000269|PubMed:18332868, ECO:0000269|PubMed:18381890, ECO:0000269|PubMed:18593899, ECO:0000269|PubMed:19966799, ECO:0000269|PubMed:22118460, ECO:0000269|PubMed:25043012, ECO:0000269|PubMed:25108355, ECO:0000269|PubMed:26431207, ECO:0000269|PubMed:28886238}.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
TgeneDAKchr11:61100379chr11:61105412ENST00000394900118372_5711.0576.0DomainDhaL
TgeneDAKchr11:61100379chr11:61105412ENST000003949001189_3361.0576.0DomainDhaK
TgeneDAKchr11:61100380chr11:61105413ENST00000394900118372_5711.0576.0DomainDhaL
TgeneDAKchr11:61100380chr11:61105413ENST000003949001189_3361.0576.0DomainDhaK
TgeneDAKchr11:61100379chr11:61105412ENST00000394900118401_4041.0576.0Nucleotide bindingATP
TgeneDAKchr11:61100379chr11:61105412ENST00000394900118446_4471.0576.0Nucleotide bindingATP
TgeneDAKchr11:61100379chr11:61105412ENST00000394900118494_4951.0576.0Nucleotide bindingATP
TgeneDAKchr11:61100379chr11:61105412ENST00000394900118556_5581.0576.0Nucleotide bindingATP
TgeneDAKchr11:61100380chr11:61105413ENST00000394900118401_4041.0576.0Nucleotide bindingATP
TgeneDAKchr11:61100380chr11:61105413ENST00000394900118446_4471.0576.0Nucleotide bindingATP
TgeneDAKchr11:61100380chr11:61105413ENST00000394900118494_4951.0576.0Nucleotide bindingATP
TgeneDAKchr11:61100380chr11:61105413ENST00000394900118556_5581.0576.0Nucleotide bindingATP
TgeneDAKchr11:61100379chr11:61105412ENST0000039490011856_591.0576.0RegionDihydroxyacetone binding
TgeneDAKchr11:61100380chr11:61105413ENST0000039490011856_591.0576.0RegionDihydroxyacetone binding

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneDDB1chr11:61100379chr11:61105412ENST00000301764-12713_35620.3333333333333321141.0RegionNote=WD repeat beta-propeller A
HgeneDDB1chr11:61100379chr11:61105412ENST00000301764-127709_104320.3333333333333321141.0RegionNote=WD repeat beta-propeller C
HgeneDDB1chr11:61100380chr11:61105413ENST00000301764-12713_35620.3333333333333321141.0RegionNote=WD repeat beta-propeller A
HgeneDDB1chr11:61100380chr11:61105413ENST00000301764-127709_104320.3333333333333321141.0RegionNote=WD repeat beta-propeller C


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Fusion Gene Sequence for DDB1-DAK


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 DDB1-DAK


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
HgeneDDB1chr11:61100379chr11:61105412ENST00000301764-127771_114020.3333333333333321141.0CDT1 and CUL4A
HgeneDDB1chr11:61100380chr11:61105413ENST00000301764-127771_114020.3333333333333321141.0CDT1 and CUL4A
HgeneDDB1chr11:61100379chr11:61105412ENST00000301764-1272_76820.3333333333333321141.0CDT1
HgeneDDB1chr11:61100380chr11:61105413ENST00000301764-1272_76820.3333333333333321141.0CDT1


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 DDB1-DAK


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 DDB1-DAK


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneDDB1C0019193Hepatitis, Toxic1CTD_human
HgeneDDB1C0024623Malignant neoplasm of stomach1CTD_human
HgeneDDB1C0038356Stomach Neoplasms1CTD_human
HgeneDDB1C0235874Disease Exacerbation1CTD_human
HgeneDDB1C0860207Drug-Induced Liver Disease1CTD_human
HgeneDDB1C1262760Hepatitis, Drug-Induced1CTD_human
HgeneDDB1C1708349Hereditary Diffuse Gastric Cancer1CTD_human
HgeneDDB1C3658290Drug-Induced Acute Liver Injury1CTD_human
HgeneDDB1C4277682Chemical and Drug Induced Liver Injury1CTD_human
HgeneDDB1C4279912Chemically-Induced Liver Toxicity1CTD_human