Fusion Gene Studies
in Kim Lab

FusionBase FusionGDB FusionGDB2 FusionPDB FusionNeoAntigen FusionAI FusionNW FGviewer Publication Contact
FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact

Center for Computational Systems Medicine
leaf

Fusion Gene Summary

leaf

Fusion Gene ORF analysis

leaf

Fusion Genomic Features

leaf

Fusion Protein Features

leaf

Fusion Gene Sequence

leaf

Fusion Gene PPI analysis

leaf

Related Drugs

leaf

Related Diseases

Fusion gene:DDIT3-FUS (FusionGDB2 ID:HG1649TG2521)

Fusion Gene Summary for DDIT3-FUS

check button Fusion gene summary
Fusion gene informationFusion gene name: DDIT3-FUS
Fusion gene ID: hg1649tg2521
HgeneTgene
Gene symbol

DDIT3

FUS

Gene ID

1649

2521

Gene nameDNA damage inducible transcript 3FUS RNA binding protein
SynonymsAltDDIT3|C/EBPzeta|CEBPZ|CHOP|CHOP-10|CHOP10|GADD153ALS6|ETM4|FUS1|HNRNPP2|POMP75|TLS
Cytomap('DDIT3')('FUS')

12q13.3

16p11.2

Type of geneprotein-codingprotein-coding
DescriptionDNA damage-inducible transcript 3 proteinC/EBP zetaCCAAT/enhancer-binding protein homologous proteinalternative DDIT3 proteinc/EBP-homologous protein 10growth arrest and DNA damage-inducible protein GADD153RNA-binding protein FUS75 kDa DNA-pairing proteinfus-like proteinfused in sarcomafusion gene in myxoid liposarcomaheterogeneous nuclear ribonucleoprotein P2oncogene FUSoncogene TLStranslocated in liposarcoma protein
Modification date2020031320200329
UniProtAcc

P0DPQ6

P35637

Ensembl transtripts involved in fusion geneENST00000346473, ENST00000547303, 
ENST00000551116, ENST00000552740, 
ENST00000346473, ENST00000547303, 
ENST00000551116, ENST00000552740, 
Fusion gene scores* DoF score5 X 11 X 4=22020 X 13 X 10=2600
# samples 1122
** MAII scorelog2(11/220*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(22/2600*10)=-3.56293619439116
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: DDIT3 [Title/Abstract] AND FUS [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointDDIT3(57914201)-FUS(31200986), # samples:1
DDIT3(57912909)-FUS(31202469), # 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
HgeneDDIT3

GO:0000122

negative regulation of transcription by RNA polymerase II

18940792

HgeneDDIT3

GO:0006986

response to unfolded protein

18940792

HgeneDDIT3

GO:0007050

cell cycle arrest

22496745

HgeneDDIT3

GO:0032792

negative regulation of CREB transcription factor activity

8622660

HgeneDDIT3

GO:0034976

response to endoplasmic reticulum stress

18940792|19061639|20829347

HgeneDDIT3

GO:0042789

mRNA transcription by RNA polymerase II

14667815

HgeneDDIT3

GO:0043161

proteasome-mediated ubiquitin-dependent protein catabolic process

17872950

HgeneDDIT3

GO:0043433

negative regulation of DNA-binding transcription factor activity

16434966

HgeneDDIT3

GO:0045454

cell redox homeostasis

14667815

HgeneDDIT3

GO:0045892

negative regulation of transcription, DNA-templated

18940792

HgeneDDIT3

GO:0045893

positive regulation of transcription, DNA-templated

15322075|15775988

HgeneDDIT3

GO:0045944

positive regulation of transcription by RNA polymerase II

22065586

HgeneDDIT3

GO:0070059

intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress

18940792|20829347

HgeneDDIT3

GO:1903026

negative regulation of RNA polymerase II regulatory region sequence-specific DNA binding

8622660

HgeneDDIT3

GO:1990440

positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress

15322075|24939851

HgeneDDIT3

GO:2000016

negative regulation of determination of dorsal identity

16434966

TgeneFUS

GO:0006355

regulation of transcription, DNA-templated

26124092

TgeneFUS

GO:0006357

regulation of transcription by RNA polymerase II

25453086

TgeneFUS

GO:0008380

RNA splicing

26124092

TgeneFUS

GO:0043484

regulation of RNA splicing

25453086|27731383

TgeneFUS

GO:0048255

mRNA stabilization

27378374

TgeneFUS

GO:0051260

protein homooligomerization

25453086

TgeneFUS

GO:1905168

positive regulation of double-strand break repair via homologous recombination

10567410



check button Fusion gene information
* 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
ChimerDB4SARCTCGA-Z4-A9VC-01ADDIT3chr12

57914201

-FUSchr16

31200986

+
ChimerKB3..DDIT3chr12

57911488

-FUSchr16

31202283

+
ChimerKB3..DDIT3chr12

57912676

-FUSchr16

31202431

+


Top

Fusion Gene ORF analysis for DDIT3-FUS

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
5UTR-3CDSENST00000346473ENST00000254108DDIT3chr12

57914201

-FUSchr16

31200986

+
5UTR-3CDSENST00000346473ENST00000254108DDIT3chr12

57911488

-FUSchr16

31202283

+
5UTR-3CDSENST00000346473ENST00000380244DDIT3chr12

57914201

-FUSchr16

31200986

+
5UTR-3CDSENST00000346473ENST00000380244DDIT3chr12

57911488

-FUSchr16

31202283

+
5UTR-3CDSENST00000346473ENST00000568685DDIT3chr12

57914201

-FUSchr16

31200986

+
5UTR-3CDSENST00000346473ENST00000568685DDIT3chr12

57911488

-FUSchr16

31202283

+
5UTR-3CDSENST00000547303ENST00000254108DDIT3chr12

57914201

-FUSchr16

31200986

+
5UTR-3CDSENST00000547303ENST00000254108DDIT3chr12

57911488

-FUSchr16

31202283

+
5UTR-3CDSENST00000547303ENST00000380244DDIT3chr12

57914201

-FUSchr16

31200986

+
5UTR-3CDSENST00000547303ENST00000380244DDIT3chr12

57911488

-FUSchr16

31202283

+
5UTR-3CDSENST00000547303ENST00000568685DDIT3chr12

57914201

-FUSchr16

31200986

+
5UTR-3CDSENST00000547303ENST00000568685DDIT3chr12

57911488

-FUSchr16

31202283

+
5UTR-3CDSENST00000551116ENST00000254108DDIT3chr12

57914201

-FUSchr16

31200986

+
5UTR-3CDSENST00000551116ENST00000254108DDIT3chr12

57911488

-FUSchr16

31202283

+
5UTR-3CDSENST00000551116ENST00000380244DDIT3chr12

57914201

-FUSchr16

31200986

+
5UTR-3CDSENST00000551116ENST00000380244DDIT3chr12

57911488

-FUSchr16

31202283

+
5UTR-3CDSENST00000551116ENST00000568685DDIT3chr12

57914201

-FUSchr16

31200986

+
5UTR-3CDSENST00000551116ENST00000568685DDIT3chr12

57911488

-FUSchr16

31202283

+
5UTR-3CDSENST00000552740ENST00000254108DDIT3chr12

57914201

-FUSchr16

31200986

+
5UTR-3CDSENST00000552740ENST00000380244DDIT3chr12

57914201

-FUSchr16

31200986

+
5UTR-3CDSENST00000552740ENST00000568685DDIT3chr12

57914201

-FUSchr16

31200986

+
5UTR-3UTRENST00000346473ENST00000474990DDIT3chr12

57914201

-FUSchr16

31200986

+
5UTR-3UTRENST00000346473ENST00000474990DDIT3chr12

57911488

-FUSchr16

31202283

+
5UTR-3UTRENST00000547303ENST00000474990DDIT3chr12

57914201

-FUSchr16

31200986

+
5UTR-3UTRENST00000547303ENST00000474990DDIT3chr12

57911488

-FUSchr16

31202283

+
5UTR-3UTRENST00000551116ENST00000474990DDIT3chr12

57914201

-FUSchr16

31200986

+
5UTR-3UTRENST00000551116ENST00000474990DDIT3chr12

57911488

-FUSchr16

31202283

+
5UTR-3UTRENST00000552740ENST00000474990DDIT3chr12

57914201

-FUSchr16

31200986

+
intron-3CDSENST00000552740ENST00000254108DDIT3chr12

57911488

-FUSchr16

31202283

+
intron-3CDSENST00000552740ENST00000380244DDIT3chr12

57911488

-FUSchr16

31202283

+
intron-3CDSENST00000552740ENST00000568685DDIT3chr12

57911488

-FUSchr16

31202283

+
intron-3UTRENST00000552740ENST00000474990DDIT3chr12

57911488

-FUSchr16

31202283

+
intron-intronENST00000346473ENST00000254108DDIT3chr12

57912676

-FUSchr16

31202431

+
intron-intronENST00000346473ENST00000380244DDIT3chr12

57912676

-FUSchr16

31202431

+
intron-intronENST00000346473ENST00000474990DDIT3chr12

57912676

-FUSchr16

31202431

+
intron-intronENST00000346473ENST00000568685DDIT3chr12

57912676

-FUSchr16

31202431

+
intron-intronENST00000547303ENST00000254108DDIT3chr12

57912676

-FUSchr16

31202431

+
intron-intronENST00000547303ENST00000380244DDIT3chr12

57912676

-FUSchr16

31202431

+
intron-intronENST00000547303ENST00000474990DDIT3chr12

57912676

-FUSchr16

31202431

+
intron-intronENST00000547303ENST00000568685DDIT3chr12

57912676

-FUSchr16

31202431

+
intron-intronENST00000551116ENST00000254108DDIT3chr12

57912676

-FUSchr16

31202431

+
intron-intronENST00000551116ENST00000380244DDIT3chr12

57912676

-FUSchr16

31202431

+
intron-intronENST00000551116ENST00000474990DDIT3chr12

57912676

-FUSchr16

31202431

+
intron-intronENST00000551116ENST00000568685DDIT3chr12

57912676

-FUSchr16

31202431

+
intron-intronENST00000552740ENST00000254108DDIT3chr12

57912676

-FUSchr16

31202431

+
intron-intronENST00000552740ENST00000380244DDIT3chr12

57912676

-FUSchr16

31202431

+
intron-intronENST00000552740ENST00000474990DDIT3chr12

57912676

-FUSchr16

31202431

+
intron-intronENST00000552740ENST00000568685DDIT3chr12

57912676

-FUSchr16

31202431

+

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

Top

Fusion Genomic Features for DDIT3-FUS


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)
DDIT3chr1257914200-FUSchr1631200985+0.006226310.9937737
DDIT3chr1257914200-FUSchr1631200985+0.006226310.9937737


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%

Top

Fusion Protein Features for DDIT3-FUS


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/:57914201/:31200986)
- 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
DDIT3

P0DPQ6

FUS

P35637

FUNCTION: [Isoform AltDDIT3]: Product of the upstream open reading frame (uORF) of DDIT3/CHOP that is specifically produced in absence of stress, thereby preventing translation of downstream stress effector DDIT3/CHOP. {ECO:0000250|UniProtKB:A0A2R8VHR8}.FUNCTION: DNA/RNA-binding protein that plays a role in various cellular processes such as transcription regulation, RNA splicing, RNA transport, DNA repair and damage response (PubMed:27731383). Binds to nascent pre-mRNAs and acts as a molecular mediator between RNA polymerase II and U1 small nuclear ribonucleoprotein thereby coupling transcription and splicing (PubMed:26124092). Binds also its own pre-mRNA and autoregulates its expression; this autoregulation mechanism is mediated by non-sense-mediated decay (PubMed:24204307). Plays a role in DNA repair mechanisms by promoting D-loop formation and homologous recombination during DNA double-strand break repair (PubMed:10567410). In neuronal cells, plays crucial roles in dendritic spine formation and stability, RNA transport, mRNA stability and synaptic homeostasis (By similarity). {ECO:0000250|UniProtKB:P56959, ECO:0000269|PubMed:10567410, ECO:0000269|PubMed:24204307, ECO:0000269|PubMed:26124092, ECO:0000269|PubMed:27731383}.

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


Top

Fusion Gene Sequence for DDIT3-FUS


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.

Top

Fusion Gene PPI Analysis for DDIT3-FUS


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


Top

Related Drugs for DDIT3-FUS


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

Top

Related Diseases for DDIT3-FUS


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneDDIT3C0206634Liposarcoma, Myxoid3CTD_human;ORPHANET
HgeneDDIT3C0003949Asbestosis1CTD_human
HgeneDDIT3C0006142Malignant neoplasm of breast1CTD_human
HgeneDDIT3C0011616Contact Dermatitis1CTD_human
HgeneDDIT3C0011854Diabetes Mellitus, Insulin-Dependent1CTD_human
HgeneDDIT3C0015695Fatty Liver1CTD_human
HgeneDDIT3C0017614Glaucoma, Suspect1CTD_human
HgeneDDIT3C0021831Intestinal Diseases1CTD_human
HgeneDDIT3C0027051Myocardial Infarction1CTD_human
HgeneDDIT3C0027720Nephrosis1CTD_human
HgeneDDIT3C0028754Obesity1CTD_human
HgeneDDIT3C0028840Ocular Hypertension1CTD_human
HgeneDDIT3C0041582Ulcer1CTD_human
HgeneDDIT3C0087031Juvenile-Onset Still Disease1CTD_human
HgeneDDIT3C0162351Contact hypersensitivity1CTD_human
HgeneDDIT3C0205734Diabetes, Autoimmune1CTD_human
HgeneDDIT3C0342302Brittle diabetes1CTD_human
HgeneDDIT3C0678222Breast Carcinoma1CTD_human
HgeneDDIT3C1257931Mammary Neoplasms, Human1CTD_human
HgeneDDIT3C1458155Mammary Neoplasms1CTD_human
HgeneDDIT3C2711227Steatohepatitis1CTD_human
HgeneDDIT3C2930617Pulmonary Fibrosis - from Asbestos Exposure1CTD_human
HgeneDDIT3C3495559Juvenile arthritis1CTD_human
HgeneDDIT3C3714758Juvenile psoriatic arthritis1CTD_human
HgeneDDIT3C3837958Diabetes Mellitus, Ketosis-Prone1CTD_human
HgeneDDIT3C4552091Polyarthritis, Juvenile, Rheumatoid Factor Negative1CTD_human
HgeneDDIT3C4554117Diabetes Mellitus, Sudden-Onset1CTD_human
HgeneDDIT3C4704862Polyarthritis, Juvenile, Rheumatoid Factor Positive1CTD_human
HgeneDDIT3C4704874Mammary Carcinoma, Human1CTD_human
TgeneC1842675AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder)5UNIPROT
TgeneC3468114Juvenile amyotrophic lateral sclerosis5ORPHANET
TgeneC0002736Amyotrophic Lateral Sclerosis2CTD_human;ORPHANET
TgeneC0206634Liposarcoma, Myxoid2CTD_human;ORPHANET
TgeneC0393554Amyotrophic Lateral Sclerosis With Dementia1CTD_human
TgeneC0497327Dementia1GENOMICS_ENGLAND
TgeneC0543859Amyotrophic Lateral Sclerosis, Guam Form1CTD_human
TgeneC3539195TREMOR, HEREDITARY ESSENTIAL, 41CTD_human;UNIPROT
TgeneC3888102Frontotemporal Dementia With Motor Neuron Disease1ORPHANET