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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 11131

FusionGeneSummary for EGR1_DAXX

check button Fusion gene summary
Fusion gene informationFusion gene name: EGR1_DAXX
Fusion gene ID: 11131
HgeneTgene
Gene symbol

EGR1

DAXX

Gene ID

1958

1616

Gene nameearly growth response 1death domain associated protein
SynonymsAT225|G0S30|KROX-24|NGFI-A|TIS8|ZIF-268|ZNF225BING2|DAP6|EAP1
Cytomap

5q31.2

6p21.32

Type of geneprotein-codingprotein-coding
Descriptionearly growth response protein 1EGR-1nerve growth factor-induced protein Atranscription factor ETR103transcription factor Zif268zinc finger protein 225zinc finger protein Krox-24death domain-associated protein 6CENP-C binding proteinETS1-associated protein 1Fas-binding proteindeath-associated protein 6fas death domain-associated protein
Modification date2018052320180522
UniProtAcc

P18146

Q9UER7

Ensembl transtripts involved in fusion geneENST00000239938, ENST00000266000, 
ENST00000374542, ENST00000414083, 
ENST00000477162, ENST00000455860, 
ENST00000436311, ENST00000472399, 
ENST00000399060, ENST00000383062, 
ENST00000461796, ENST00000433482, 
ENST00000445009, ENST00000469277, 
ENST00000399344, ENST00000383194, 
ENST00000494562, ENST00000414388, 
Fusion gene scores* DoF score5 X 6 X 3=905 X 3 X 4=60
# samples 75
** MAII scorelog2(7/90*10)=-0.362570079384708
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(5/60*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: EGR1 [Title/Abstract] AND DAXX [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotation
* 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
HgeneEGR1

GO:0006366

transcription by RNA polymerase II

19057511

HgeneEGR1

GO:0033233

regulation of protein sumoylation

19057511

HgeneEGR1

GO:0045893

positive regulation of transcription, DNA-templated

12560508

HgeneEGR1

GO:0045944

positive regulation of transcription by RNA polymerase II

19057511

HgeneEGR1

GO:0098759

cellular response to interleukin-8

20363028

TgeneDAXX

GO:0006334

nucleosome assembly

20504901|20651253

TgeneDAXX

GO:0006338

chromatin remodeling

20651253

TgeneDAXX

GO:0006355

regulation of transcription, DNA-templated

15878163

TgeneDAXX

GO:0030521

androgen receptor signaling pathway

15572661

TgeneDAXX

GO:0031396

regulation of protein ubiquitination

18566590

TgeneDAXX

GO:0034605

cellular response to heat

15016915

TgeneDAXX

GO:0034620

cellular response to unfolded protein

15016915

TgeneDAXX

GO:0045892

negative regulation of transcription, DNA-templated

12140263|15572661

TgeneDAXX

GO:0071276

cellular response to cadmium ion

15016915

TgeneDAXX

GO:0071280

cellular response to copper ion

15016915

TgeneDAXX

GO:0072738

cellular response to diamide

15016915

TgeneDAXX

GO:1903936

cellular response to sodium arsenite

15016915


check button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* 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.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChiTaRS3.1CR975017EGR1chr5

137803395

+DAXXchr6

4522398

-
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

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-intronENST00000239938ENST00000266000EGR1chr5

137803395

+DAXXchr6

4522398

-
5CDS-intronENST00000239938ENST00000374542EGR1chr5

137803395

+DAXXchr6

4522398

-
5CDS-intronENST00000239938ENST00000414083EGR1chr5

137803395

+DAXXchr6

4522398

-
5CDS-intronENST00000239938ENST00000477162EGR1chr5

137803395

+DAXXchr6

4522398

-
5CDS-intronENST00000239938ENST00000455860EGR1chr5

137803395

+DAXXchr6

4522398

-
5CDS-intronENST00000239938ENST00000436311EGR1chr5

137803395

+DAXXchr6

4522398

-
5CDS-intronENST00000239938ENST00000472399EGR1chr5

137803395

+DAXXchr6

4522398

-
5CDS-intronENST00000239938ENST00000399060EGR1chr5

137803395

+DAXXchr6

4522398

-
5CDS-intronENST00000239938ENST00000383062EGR1chr5

137803395

+DAXXchr6

4522398

-
5CDS-intronENST00000239938ENST00000461796EGR1chr5

137803395

+DAXXchr6

4522398

-
5CDS-intronENST00000239938ENST00000433482EGR1chr5

137803395

+DAXXchr6

4522398

-
5CDS-intronENST00000239938ENST00000445009EGR1chr5

137803395

+DAXXchr6

4522398

-
5CDS-intronENST00000239938ENST00000469277EGR1chr5

137803395

+DAXXchr6

4522398

-
5CDS-intronENST00000239938ENST00000399344EGR1chr5

137803395

+DAXXchr6

4522398

-
5CDS-intronENST00000239938ENST00000383194EGR1chr5

137803395

+DAXXchr6

4522398

-
5CDS-intronENST00000239938ENST00000494562EGR1chr5

137803395

+DAXXchr6

4522398

-
5CDS-intronENST00000239938ENST00000414388EGR1chr5

137803395

+DAXXchr6

4522398

-

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FusionProtFeatures for EGR1_DAXX


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
EGR1

P18146

DAXX

Q9UER7

Transcriptional regulator (PubMed:20121949). Recognizesand binds to the DNA sequence 5'-GCG(T/G)GGGCG-3'(EGR-site) in thepromoter region of target genes (By similarity). Binds double-stranded target DNA, irrespective of the cytosine methylationstatus (PubMed:25258363, PubMed:25999311). Regulates thetranscription of numerous target genes, and thereby plays animportant role in regulating the response to growth factors, DNAdamage, and ischemia. Plays a role in the regulation of cellsurvival, proliferation and cell death. Activates expression ofp53/TP53 and TGFB1, and thereby helps prevent tumor formation.Required for normal progress through mitosis and normalproliferation of hepatocytes after partial hepatectomy. Mediatesresponses to ischemia and hypoxia; regulates the expression ofproteins such as IL1B and CXCL2 that are involved in inflammatoryprocesses and development of tissue damage after ischemia.Regulates biosynthesis of luteinizing hormone (LHB) in thepituitary (By similarity). {ECO:0000250|UniProtKB:P08046,ECO:0000269|PubMed:20121949, ECO:0000269|PubMed:25258363,ECO:0000269|PubMed:25999311}.

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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FusionGeneSequence for EGR1_DAXX


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for EGR1_DAXX


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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RelatedDrugs for EGR1_DAXX


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for EGR1_DAXX


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneEGR1C0236736Cocaine-Related Disorders3CTD_human
HgeneEGR1C0008372Intrahepatic Cholestasis2CTD_human
HgeneEGR1C0004364Autoimmune Diseases1CTD_human
HgeneEGR1C0007786Brain Ischemia1CTD_human
HgeneEGR1C0008311Cholangitis1CTD_human
HgeneEGR1C0008370Cholestasis1CTD_human
HgeneEGR1C0020295Hydronephrosis1CTD_human
HgeneEGR1C0021368Inflammation1CTD_human
HgeneEGR1C0022116Ischemia1CTD_human
HgeneEGR1C0025500Mesothelioma1CTD_human
HgeneEGR1C0033578Prostatic Neoplasms1CTD_human
HgeneEGR1C0035126Reperfusion Injury1CTD_human
HgeneEGR1C0036341Schizophrenia1PSYGENET
HgeneEGR1C0242184Hypoxia1CTD_human
HgeneEGR1C0853193Bipolar I disorder1PSYGENET
HgeneEGR1C3495559Juvenile arthritis1CTD_human
TgeneDAXXC0030297Pancreatic Neoplasm1CTD_human
TgeneDAXXC0206686Adrenocortical carcinoma1CTD_human
TgeneDAXXC0206754Neuroendocrine Tumors1CTD_human