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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: 12362

FusionGeneSummary for EZH1_STAT3

check button Fusion gene summary
Fusion gene informationFusion gene name: EZH1_STAT3
Fusion gene ID: 12362
HgeneTgene
Gene symbol

EZH1

STAT3

Gene ID

2145

6774

Gene nameenhancer of zeste 1 polycomb repressive complex 2 subunitsignal transducer and activator of transcription 3
SynonymsKMT6BADMIO|ADMIO1|APRF|HIES
Cytomap

17q21.2

17q21.2

Type of geneprotein-codingprotein-coding
Descriptionhistone-lysine N-methyltransferase EZH1ENX-2enhancer of zeste homolog 1signal transducer and activator of transcription 3DNA-binding protein APRFacute-phase response factor
Modification date2018051920180527
UniProtAcc

Q92800

P40763

Ensembl transtripts involved in fusion geneENST00000428826, ENST00000415827, 
ENST00000435174, ENST00000592743, 
ENST00000585893, ENST00000590078, 
ENST00000590783, 		ENST00000264657, 
ENST00000585517, ENST00000389272, 
ENST00000588969, ENST00000404395, 
ENST00000590776, 
Fusion gene scores* DoF score6 X 6 X 5=18012 X 12 X 7=1008
# samples 613
** MAII scorelog2(6/180*10)=-1.58496250072116
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(13/1008*10)=-2.95491211047146
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: EZH1 [Title/Abstract] AND STAT3 [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
TgeneSTAT3

GO:0006355

regulation of transcription, DNA-templated

15664994|17344214

TgeneSTAT3

GO:0006606

protein import into nucleus

18234692

TgeneSTAT3

GO:0010628

positive regulation of gene expression

23820254

TgeneSTAT3

GO:0030522

intracellular receptor signaling pathway

17324931

TgeneSTAT3

GO:0032355

response to estradiol

12552091

TgeneSTAT3

GO:0032870

cellular response to hormone stimulus

12552091

TgeneSTAT3

GO:0033210

leptin-mediated signaling pathway

17344214

TgeneSTAT3

GO:0035278

miRNA mediated inhibition of translation

23820254

TgeneSTAT3

GO:0044320

cellular response to leptin stimulus

17344214

TgeneSTAT3

GO:0044321

response to leptin

17344214

TgeneSTAT3

GO:0045893

positive regulation of transcription, DNA-templated

19390056

TgeneSTAT3

GO:0045944

positive regulation of transcription by RNA polymerase II

17324931

TgeneSTAT3

GO:0051726

regulation of cell cycle

17344214

TgeneSTAT3

GO:0060396

growth hormone receptor signaling pathway

10925297

TgeneSTAT3

GO:0060397

JAK-STAT cascade involved in growth hormone signaling pathway

12552091

TgeneSTAT3

GO:0070102

interleukin-6-mediated signaling pathway

12359225|12552091|17324931

TgeneSTAT3

GO:1902895

positive regulation of pri-miRNA transcription by RNA polymerase II

19390056|23820254

TgeneSTAT3

GO:2000637

positive regulation of gene silencing by miRNA

23820254


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
ChiTaRS3.1BU658881EZH1chr17

40882846

-STAT3chr17

40482717

+
* 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
5UTR-intronENST00000428826ENST00000264657EZH1chr17

40882846

-STAT3chr17

40482717

+
5UTR-intronENST00000428826ENST00000585517EZH1chr17

40882846

-STAT3chr17

40482717

+
5UTR-intronENST00000428826ENST00000389272EZH1chr17

40882846

-STAT3chr17

40482717

+
5UTR-intronENST00000428826ENST00000588969EZH1chr17

40882846

-STAT3chr17

40482717

+
5UTR-intronENST00000428826ENST00000404395EZH1chr17

40882846

-STAT3chr17

40482717

+
5UTR-intronENST00000428826ENST00000590776EZH1chr17

40882846

-STAT3chr17

40482717

+
5UTR-intronENST00000415827ENST00000264657EZH1chr17

40882846

-STAT3chr17

40482717

+
5UTR-intronENST00000415827ENST00000585517EZH1chr17

40882846

-STAT3chr17

40482717

+
5UTR-intronENST00000415827ENST00000389272EZH1chr17

40882846

-STAT3chr17

40482717

+
5UTR-intronENST00000415827ENST00000588969EZH1chr17

40882846

-STAT3chr17

40482717

+
5UTR-intronENST00000415827ENST00000404395EZH1chr17

40882846

-STAT3chr17

40482717

+
5UTR-intronENST00000415827ENST00000590776EZH1chr17

40882846

-STAT3chr17

40482717

+
5UTR-intronENST00000435174ENST00000264657EZH1chr17

40882846

-STAT3chr17

40482717

+
5UTR-intronENST00000435174ENST00000585517EZH1chr17

40882846

-STAT3chr17

40482717

+
5UTR-intronENST00000435174ENST00000389272EZH1chr17

40882846

-STAT3chr17

40482717

+
5UTR-intronENST00000435174ENST00000588969EZH1chr17

40882846

-STAT3chr17

40482717

+
5UTR-intronENST00000435174ENST00000404395EZH1chr17

40882846

-STAT3chr17

40482717

+
5UTR-intronENST00000435174ENST00000590776EZH1chr17

40882846

-STAT3chr17

40482717

+
intron-intronENST00000592743ENST00000264657EZH1chr17

40882846

-STAT3chr17

40482717

+
intron-intronENST00000592743ENST00000585517EZH1chr17

40882846

-STAT3chr17

40482717

+
intron-intronENST00000592743ENST00000389272EZH1chr17

40882846

-STAT3chr17

40482717

+
intron-intronENST00000592743ENST00000588969EZH1chr17

40882846

-STAT3chr17

40482717

+
intron-intronENST00000592743ENST00000404395EZH1chr17

40882846

-STAT3chr17

40482717

+
intron-intronENST00000592743ENST00000590776EZH1chr17

40882846

-STAT3chr17

40482717

+
5UTR-intronENST00000585893ENST00000264657EZH1chr17

40882846

-STAT3chr17

40482717

+
5UTR-intronENST00000585893ENST00000585517EZH1chr17

40882846

-STAT3chr17

40482717

+
5UTR-intronENST00000585893ENST00000389272EZH1chr17

40882846

-STAT3chr17

40482717

+
5UTR-intronENST00000585893ENST00000588969EZH1chr17

40882846

-STAT3chr17

40482717

+
5UTR-intronENST00000585893ENST00000404395EZH1chr17

40882846

-STAT3chr17

40482717

+
5UTR-intronENST00000585893ENST00000590776EZH1chr17

40882846

-STAT3chr17

40482717

+
5UTR-intronENST00000590078ENST00000264657EZH1chr17

40882846

-STAT3chr17

40482717

+
5UTR-intronENST00000590078ENST00000585517EZH1chr17

40882846

-STAT3chr17

40482717

+
5UTR-intronENST00000590078ENST00000389272EZH1chr17

40882846

-STAT3chr17

40482717

+
5UTR-intronENST00000590078ENST00000588969EZH1chr17

40882846

-STAT3chr17

40482717

+
5UTR-intronENST00000590078ENST00000404395EZH1chr17

40882846

-STAT3chr17

40482717

+
5UTR-intronENST00000590078ENST00000590776EZH1chr17

40882846

-STAT3chr17

40482717

+
intron-intronENST00000590783ENST00000264657EZH1chr17

40882846

-STAT3chr17

40482717

+
intron-intronENST00000590783ENST00000585517EZH1chr17

40882846

-STAT3chr17

40482717

+
intron-intronENST00000590783ENST00000389272EZH1chr17

40882846

-STAT3chr17

40482717

+
intron-intronENST00000590783ENST00000588969EZH1chr17

40882846

-STAT3chr17

40482717

+
intron-intronENST00000590783ENST00000404395EZH1chr17

40882846

-STAT3chr17

40482717

+
intron-intronENST00000590783ENST00000590776EZH1chr17

40882846

-STAT3chr17

40482717

+

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FusionProtFeatures for EZH1_STAT3


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
EZH1

Q92800

STAT3

P40763

Signal transducer and transcription activator thatmediates cellular responses to interleukins, KITLG/SCF, LEP andother growth factors (PubMed:10688651, PubMed:12359225,PubMed:12873986, PubMed:15194700, PubMed:17344214,PubMed:18242580, PubMed:23084476). Once activated, recruitscoactivators, such as NCOA1 or MED1, to the promoter region of thetarget gene (PubMed:17344214). May mediate cellular responses toactivated FGFR1, FGFR2, FGFR3 and FGFR4 (PubMed:12873986). Bindsto the interleukin-6 (IL-6)-responsive elements identified in thepromoters of various acute-phase protein genes (PubMed:12359225).Activated by IL31 through IL31RA (PubMed:15194700). Acts as aregulator of inflammatory response by regulating differentiationof naive CD4(+) T-cells into T-helper Th17 or regulatory T-cells(Treg): deacetylation and oxidation of lysine residues by LOXL3,leads to disrupt STAT3 dimerization and inhibit its transcriptionactivity (PubMed:28065600). Involved in cell cycle regulation byinducing the expression of key genes for the progression from G1to S phase, such as CCND1 (PubMed:17344214). Mediates the effectsof LEP on melanocortin production, body energy homeostasis andlactation (By similarity). May play an apoptotic role bytransctivating BIRC5 expression under LEP activation(PubMed:18242580). Cytoplasmic STAT3 represses macroautophagy byinhibiting EIF2AK2/PKR activity (PubMed:23084476). Plays a crucialrole in basal beta cell functions, such as regulation of insulinsecretion (By similarity). {ECO:0000250|UniProtKB:P42227,ECO:0000269|PubMed:10688651, ECO:0000269|PubMed:12359225,ECO:0000269|PubMed:12873986, ECO:0000269|PubMed:15194700,ECO:0000269|PubMed:17344214, ECO:0000269|PubMed:18242580,ECO:0000269|PubMed:23084476, ECO:0000269|PubMed:28065600}.

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 EZH1_STAT3


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 EZH1_STAT3


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 EZH1_STAT3


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 EZH1_STAT3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneSTAT3C3489795Hyper-Ige Recurrent Infection Syndrome, Autosomal Dominant4CTD_human;ORPHANET;UNIPROT
TgeneSTAT3C0018800Cardiomegaly3CTD_human
TgeneSTAT3C0033578Prostatic Neoplasms3CTD_human
TgeneSTAT3C0001418Adenocarcinoma2CTD_human
TgeneSTAT3C0007137Squamous cell carcinoma2CTD_human
TgeneSTAT3C0009324Ulcerative Colitis2CTD_human
TgeneSTAT3C0021368Inflammation2CTD_human
TgeneSTAT3C0027627Neoplasm Metastasis2CTD_human
TgeneSTAT3C0030297Pancreatic Neoplasm2CTD_human
TgeneSTAT3C0878544Cardiomyopathies2CTD_human
TgeneSTAT3C0004153Atherosclerosis1CTD_human
TgeneSTAT3C0004364Autoimmune Diseases1CTD_human;HPO
TgeneSTAT3C0007131Non-Small Cell Lung Carcinoma1CTD_human
TgeneSTAT3C0007621Neoplastic Cell Transformation1CTD_human
TgeneSTAT3C0007786Brain Ischemia1CTD_human
TgeneSTAT3C0007873Uterine Cervical Neoplasm1CTD_human
TgeneSTAT3C0009375Colonic Neoplasms1CTD_human
TgeneSTAT3C0011581Depressive disorder1PSYGENET
TgeneSTAT3C0011854Diabetes Mellitus, Insulin-Dependent1CTD_human
TgeneSTAT3C0015967Fever1CTD_human
TgeneSTAT3C0016059Fibrosis1CTD_human
TgeneSTAT3C0019189Hepatitis, Chronic1CTD_human
TgeneSTAT3C0023467Leukemia, Myelocytic, Acute1CTD_human
TgeneSTAT3C0023485Precursor B-Cell Lymphoblastic Leukemia-Lymphoma1CTD_human
TgeneSTAT3C0023492Leukemia, T-Cell1CTD_human
TgeneSTAT3C0023493Adult T-Cell Lymphoma/Leukemia1CTD_human
TgeneSTAT3C0023903Liver neoplasms1CTD_human
TgeneSTAT3C0024232Lymphatic Metastasis1CTD_human
TgeneSTAT3C0024667Animal Mammary Neoplasms1CTD_human
TgeneSTAT3C0024668Mammary Neoplasms, Experimental1CTD_human
TgeneSTAT3C0025149Medulloblastoma1CTD_human
TgeneSTAT3C0025261Memory Disorders1CTD_human
TgeneSTAT3C0033860Psoriasis1CTD_human
TgeneSTAT3C0035126Reperfusion Injury1CTD_human
TgeneSTAT3C0038356Stomach Neoplasms1CTD_human
TgeneSTAT3C0079772T-Cell Lymphoma1CTD_human
TgeneSTAT3C0206180Ki-1+ Anaplastic Large Cell Lymphoma1CTD_human
TgeneSTAT3C0235833Congenital diaphragmatic hernia1CTD_human
TgeneSTAT3C0333641Atrophic1CTD_human
TgeneSTAT3C0740392Infarction, Middle Cerebral Artery1CTD_human
TgeneSTAT3C0919267ovarian neoplasm1CTD_human
TgeneSTAT3C0993582Arthritis, Experimental1CTD_human
TgeneSTAT3C1168401Squamous cell carcinoma of the head and neck1CTD_human
TgeneSTAT3C1458155Mammary Neoplasms1CTD_human
TgeneSTAT3C1876165Copper-Overload Cirrhosis1CTD_human
TgeneSTAT3C3495559Juvenile arthritis1CTD_human
TgeneSTAT3C3887645Job Syndrome1CTD_human
TgeneSTAT3C4014795AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET1ORPHANET;UNIPROT