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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:ZEB2-PLCG1 (FusionGDB2 ID:100190)

Fusion Gene Summary for ZEB2-PLCG1

check button Fusion gene summary
Fusion gene informationFusion gene name: ZEB2-PLCG1
Fusion gene ID: 100190
HgeneTgene
Gene symbol

ZEB2

PLCG1

Gene ID

9839

5335

Gene namezinc finger E-box binding homeobox 2phospholipase C gamma 1
SynonymsHSPC082|SIP-1|SIP1|SMADIP1|ZFHX1BNCKAP3|PLC-II|PLC1|PLC148|PLCgamma1
Cytomap

2q22.3

20q12

Type of geneprotein-codingprotein-coding
Descriptionzinc finger E-box-binding homeobox 2SMAD interacting protein 1Smad-interacting protein 1zinc finger homeobox 1b1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-11-phosphatidyl-D-myo-inositol-4,5-bisphosphatePLC-148PLC-gamma-1inositoltrisphosphohydrolasemonophosphatidylinositol phosphodiesterasephosphatidylinositol phospholipase Cphosphoinosit
Modification date2020032920200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000558170, ENST00000409487, 
ENST00000303660, ENST00000539609, 
ENST00000493689, ENST00000470879, 
ENST00000465070, ENST00000462355, 
ENST00000244007, ENST00000373272, 
ENST00000373271, ENST00000608689, 
Fusion gene scores* DoF score12 X 10 X 8=9606 X 6 X 2=72
# samples 146
** MAII scorelog2(14/960*10)=-2.77760757866355
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(6/72*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ZEB2 [Title/Abstract] AND PLCG1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointZEB2(145271818)-PLCG1(39801151), # 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
HgeneZEB2

GO:0000122

negative regulation of transcription by RNA polymerase II

12837246|20516212

TgenePLCG1

GO:0043536

positive regulation of blood vessel endothelial cell migration

20011604

TgenePLCG1

GO:0045766

positive regulation of angiogenesis

20011604

TgenePLCG1

GO:0071364

cellular response to epidermal growth factor stimulus

17229814


check buttonFusion gene breakpoints across ZEB2 (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 PLCG1 (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
ChiTaRS5.0N/AAW894554ZEB2chr2

145271818

+PLCG1chr20

39801151

-


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Fusion Gene ORF analysis for ZEB2-PLCG1

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
intron-3CDSENST00000558170ENST00000244007ZEB2chr2

145271818

+PLCG1chr20

39801151

-
intron-3CDSENST00000558170ENST00000373272ZEB2chr2

145271818

+PLCG1chr20

39801151

-
intron-3CDSENST00000558170ENST00000373271ZEB2chr2

145271818

+PLCG1chr20

39801151

-
intron-3UTRENST00000558170ENST00000608689ZEB2chr2

145271818

+PLCG1chr20

39801151

-
intron-3CDSENST00000409487ENST00000244007ZEB2chr2

145271818

+PLCG1chr20

39801151

-
intron-3CDSENST00000409487ENST00000373272ZEB2chr2

145271818

+PLCG1chr20

39801151

-
intron-3CDSENST00000409487ENST00000373271ZEB2chr2

145271818

+PLCG1chr20

39801151

-
intron-3UTRENST00000409487ENST00000608689ZEB2chr2

145271818

+PLCG1chr20

39801151

-
intron-3CDSENST00000303660ENST00000244007ZEB2chr2

145271818

+PLCG1chr20

39801151

-
intron-3CDSENST00000303660ENST00000373272ZEB2chr2

145271818

+PLCG1chr20

39801151

-
intron-3CDSENST00000303660ENST00000373271ZEB2chr2

145271818

+PLCG1chr20

39801151

-
intron-3UTRENST00000303660ENST00000608689ZEB2chr2

145271818

+PLCG1chr20

39801151

-
intron-3CDSENST00000539609ENST00000244007ZEB2chr2

145271818

+PLCG1chr20

39801151

-
intron-3CDSENST00000539609ENST00000373272ZEB2chr2

145271818

+PLCG1chr20

39801151

-
intron-3CDSENST00000539609ENST00000373271ZEB2chr2

145271818

+PLCG1chr20

39801151

-
intron-3UTRENST00000539609ENST00000608689ZEB2chr2

145271818

+PLCG1chr20

39801151

-
intron-3CDSENST00000493689ENST00000244007ZEB2chr2

145271818

+PLCG1chr20

39801151

-
intron-3CDSENST00000493689ENST00000373272ZEB2chr2

145271818

+PLCG1chr20

39801151

-
intron-3CDSENST00000493689ENST00000373271ZEB2chr2

145271818

+PLCG1chr20

39801151

-
intron-3UTRENST00000493689ENST00000608689ZEB2chr2

145271818

+PLCG1chr20

39801151

-
intron-3CDSENST00000470879ENST00000244007ZEB2chr2

145271818

+PLCG1chr20

39801151

-
intron-3CDSENST00000470879ENST00000373272ZEB2chr2

145271818

+PLCG1chr20

39801151

-
intron-3CDSENST00000470879ENST00000373271ZEB2chr2

145271818

+PLCG1chr20

39801151

-
intron-3UTRENST00000470879ENST00000608689ZEB2chr2

145271818

+PLCG1chr20

39801151

-
intron-3CDSENST00000465070ENST00000244007ZEB2chr2

145271818

+PLCG1chr20

39801151

-
intron-3CDSENST00000465070ENST00000373272ZEB2chr2

145271818

+PLCG1chr20

39801151

-
intron-3CDSENST00000465070ENST00000373271ZEB2chr2

145271818

+PLCG1chr20

39801151

-
intron-3UTRENST00000465070ENST00000608689ZEB2chr2

145271818

+PLCG1chr20

39801151

-
intron-3CDSENST00000462355ENST00000244007ZEB2chr2

145271818

+PLCG1chr20

39801151

-
intron-3CDSENST00000462355ENST00000373272ZEB2chr2

145271818

+PLCG1chr20

39801151

-
intron-3CDSENST00000462355ENST00000373271ZEB2chr2

145271818

+PLCG1chr20

39801151

-
intron-3UTRENST00000462355ENST00000608689ZEB2chr2

145271818

+PLCG1chr20

39801151

-

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 ZEB2-PLCG1


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.

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 ZEB2-PLCG1


check button Go to

FGviewer for the breakpoints of :-:

.
- 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
..
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.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

- 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 ZEB2-PLCG1


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 ZEB2-PLCG1


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 ZEB2-PLCG1


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 ZEB2-PLCG1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneZEB2C1856113Mowat-Wilson syndrome13CLINGEN;CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneZEB2C0006142Malignant neoplasm of breast1CTD_human
HgeneZEB2C0007621Neoplastic Cell Transformation1CTD_human
HgeneZEB2C0007760Cerebellar Diseases1CTD_human
HgeneZEB2C0018798Congenital Heart Defects1CTD_human
HgeneZEB2C0019569Hirschsprung Disease1GENOMICS_ENGLAND
HgeneZEB2C0023893Liver Cirrhosis, Experimental1CTD_human
HgeneZEB2C0027626Neoplasm Invasiveness1CTD_human
HgeneZEB2C0221163Motor Disorders1CTD_human
HgeneZEB2C0235874Disease Exacerbation1CTD_human
HgeneZEB2C0238463Papillary thyroid carcinoma1CTD_human
HgeneZEB2C0268390Muckle-Wells Syndrome1GENOMICS_ENGLAND
HgeneZEB2C0678222Breast Carcinoma1CTD_human
HgeneZEB2C0796033MARDEN-WALKER SYNDROME1GENOMICS_ENGLAND
HgeneZEB2C1257931Mammary Neoplasms, Human1CTD_human
HgeneZEB2C1458155Mammary Neoplasms1CTD_human
HgeneZEB2C3501843Nonmedullary Thyroid Carcinoma1CTD_human
HgeneZEB2C3501844Familial Nonmedullary Thyroid Cancer1CTD_human
HgeneZEB2C4704874Mammary Carcinoma, Human1CTD_human
TgenePLCG1C0005586Bipolar Disorder1PSYGENET
TgenePLCG1C0018923Hemangiosarcoma1CGI;CTD_human
TgenePLCG1C0023493Adult T-Cell Lymphoma/Leukemia1CTD_human
TgenePLCG1C0036920Sezary Syndrome1CTD_human
TgenePLCG1C0079773Lymphoma, T-Cell, Cutaneous1CTD_human
TgenePLCG1C0376407Granulomatous Slack Skin1CTD_human