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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:GALNT11-EZH2 (FusionGDB2 ID:HG63917TG2146)

Fusion Gene Summary for GALNT11-EZH2

check button Fusion gene summary
Fusion gene informationFusion gene name: GALNT11-EZH2
Fusion gene ID: hg63917tg2146
HgeneTgene
Gene symbol

GALNT11

EZH2

Gene ID

63917

2146

Gene namepolypeptide N-acetylgalactosaminyltransferase 11enhancer of zeste 2 polycomb repressive complex 2 subunit
SynonymsGALNAC-T11|GALNACT11ENX-1|ENX1|EZH2b|KMT6|KMT6A|WVS|WVS2
Cytomap('GALNT11')('EZH2')

7q36.1|7q36.1

7q36.1

Type of geneprotein-codingprotein-coding
Descriptionpolypeptide N-acetylgalactosaminyltransferase 11UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 11UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 (GalNAc-T11)polypeptide GalNAc transferase 11pp-GaNTase 11phistone-lysine N-methyltransferase EZH2enhancer of zeste homolog 2lysine N-methyltransferase 6
Modification date2020031320200329
UniProtAcc

Q8NCW6

.
Ensembl transtripts involved in fusion geneENST00000482812, ENST00000452146, 
ENST00000430044, ENST00000320311, 
ENST00000415421, ENST00000422997, 
ENST00000434507, 
Fusion gene scores* DoF score14 X 8 X 9=100810 X 7 X 5=350
# samples 169
** MAII scorelog2(16/1008*10)=-2.65535182861255
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(9/350*10)=-1.95935801550265
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: GALNT11 [Title/Abstract] AND EZH2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointGALNT11(151722969)-EZH2(148529842), # samples:2
Anticipated loss of major functional domain due to fusion event.GALNT11-EZH2 seems lost the major protein functional domain in Hgene partner, which is a cell metabolism gene due to the frame-shifted ORF.
GALNT11-EZH2 seems lost the major protein functional domain in Tgene partner, which is a CGC due to the frame-shifted ORF.
GALNT11-EZH2 seems lost the major protein functional domain in Tgene partner, which is a epigenetic factor due to the frame-shifted ORF.
GALNT11-EZH2 seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
GALNT11-EZH2 seems lost the major protein functional domain in Tgene partner, which is a tumor suppressor due to the frame-shifted ORF.
* 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
HgeneGALNT11

GO:0018243

protein O-linked glycosylation via threonine

24226769

TgeneEZH2

GO:0000122

negative regulation of transcription by RNA polymerase II

20154697

TgeneEZH2

GO:0010718

positive regulation of epithelial to mesenchymal transition

20154697

TgeneEZH2

GO:0043406

positive regulation of MAP kinase activity

20154697

TgeneEZH2

GO:0043547

positive regulation of GTPase activity

20154697

TgeneEZH2

GO:0045814

negative regulation of gene expression, epigenetic

20154697

TgeneEZH2

GO:0070734

histone H3-K27 methylation

24474760

TgeneEZH2

GO:0071902

positive regulation of protein serine/threonine kinase activity

20154697



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
ChimerDB4LUADTCGA-44-2659-01AGALNT11chr7

151722969

-EZH2chr7

148529842

-
ChimerDB4LUADTCGA-44-2659-01AGALNT11chr7

151722969

+EZH2chr7

148529842

-


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Fusion Gene ORF analysis for GALNT11-EZH2

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
3UTR-3CDSENST00000482812ENST00000460911GALNT11chr7

151722969

+EZH2chr7

148529842

-
3UTR-3CDSENST00000482812ENST00000478654GALNT11chr7

151722969

+EZH2chr7

148529842

-
3UTR-5UTRENST00000482812ENST00000536783GALNT11chr7

151722969

+EZH2chr7

148529842

-
3UTR-intronENST00000482812ENST00000320356GALNT11chr7

151722969

+EZH2chr7

148529842

-
3UTR-intronENST00000482812ENST00000350995GALNT11chr7

151722969

+EZH2chr7

148529842

-
3UTR-intronENST00000482812ENST00000476773GALNT11chr7

151722969

+EZH2chr7

148529842

-
3UTR-intronENST00000482812ENST00000483967GALNT11chr7

151722969

+EZH2chr7

148529842

-
3UTR-intronENST00000482812ENST00000541220GALNT11chr7

151722969

+EZH2chr7

148529842

-
5CDS-5UTRENST00000452146ENST00000536783GALNT11chr7

151722969

+EZH2chr7

148529842

-
5CDS-intronENST00000452146ENST00000320356GALNT11chr7

151722969

+EZH2chr7

148529842

-
5CDS-intronENST00000452146ENST00000350995GALNT11chr7

151722969

+EZH2chr7

148529842

-
5CDS-intronENST00000452146ENST00000476773GALNT11chr7

151722969

+EZH2chr7

148529842

-
5CDS-intronENST00000452146ENST00000483967GALNT11chr7

151722969

+EZH2chr7

148529842

-
5CDS-intronENST00000452146ENST00000541220GALNT11chr7

151722969

+EZH2chr7

148529842

-
5UTR-3CDSENST00000430044ENST00000460911GALNT11chr7

151722969

+EZH2chr7

148529842

-
5UTR-3CDSENST00000430044ENST00000478654GALNT11chr7

151722969

+EZH2chr7

148529842

-
5UTR-5UTRENST00000430044ENST00000536783GALNT11chr7

151722969

+EZH2chr7

148529842

-
5UTR-intronENST00000430044ENST00000320356GALNT11chr7

151722969

+EZH2chr7

148529842

-
5UTR-intronENST00000430044ENST00000350995GALNT11chr7

151722969

+EZH2chr7

148529842

-
5UTR-intronENST00000430044ENST00000476773GALNT11chr7

151722969

+EZH2chr7

148529842

-
5UTR-intronENST00000430044ENST00000483967GALNT11chr7

151722969

+EZH2chr7

148529842

-
5UTR-intronENST00000430044ENST00000541220GALNT11chr7

151722969

+EZH2chr7

148529842

-
Frame-shiftENST00000452146ENST00000460911GALNT11chr7

151722969

+EZH2chr7

148529842

-
Frame-shiftENST00000452146ENST00000478654GALNT11chr7

151722969

+EZH2chr7

148529842

-
intron-3CDSENST00000320311ENST00000460911GALNT11chr7

151722969

+EZH2chr7

148529842

-
intron-3CDSENST00000320311ENST00000478654GALNT11chr7

151722969

+EZH2chr7

148529842

-
intron-3CDSENST00000415421ENST00000460911GALNT11chr7

151722969

+EZH2chr7

148529842

-
intron-3CDSENST00000415421ENST00000478654GALNT11chr7

151722969

+EZH2chr7

148529842

-
intron-3CDSENST00000422997ENST00000460911GALNT11chr7

151722969

+EZH2chr7

148529842

-
intron-3CDSENST00000422997ENST00000478654GALNT11chr7

151722969

+EZH2chr7

148529842

-
intron-3CDSENST00000434507ENST00000460911GALNT11chr7

151722969

+EZH2chr7

148529842

-
intron-3CDSENST00000434507ENST00000478654GALNT11chr7

151722969

+EZH2chr7

148529842

-
intron-5UTRENST00000320311ENST00000536783GALNT11chr7

151722969

+EZH2chr7

148529842

-
intron-5UTRENST00000415421ENST00000536783GALNT11chr7

151722969

+EZH2chr7

148529842

-
intron-5UTRENST00000422997ENST00000536783GALNT11chr7

151722969

+EZH2chr7

148529842

-
intron-5UTRENST00000434507ENST00000536783GALNT11chr7

151722969

+EZH2chr7

148529842

-
intron-intronENST00000320311ENST00000320356GALNT11chr7

151722969

+EZH2chr7

148529842

-
intron-intronENST00000320311ENST00000350995GALNT11chr7

151722969

+EZH2chr7

148529842

-
intron-intronENST00000320311ENST00000476773GALNT11chr7

151722969

+EZH2chr7

148529842

-
intron-intronENST00000320311ENST00000483967GALNT11chr7

151722969

+EZH2chr7

148529842

-
intron-intronENST00000320311ENST00000541220GALNT11chr7

151722969

+EZH2chr7

148529842

-
intron-intronENST00000415421ENST00000320356GALNT11chr7

151722969

+EZH2chr7

148529842

-
intron-intronENST00000415421ENST00000350995GALNT11chr7

151722969

+EZH2chr7

148529842

-
intron-intronENST00000415421ENST00000476773GALNT11chr7

151722969

+EZH2chr7

148529842

-
intron-intronENST00000415421ENST00000483967GALNT11chr7

151722969

+EZH2chr7

148529842

-
intron-intronENST00000415421ENST00000541220GALNT11chr7

151722969

+EZH2chr7

148529842

-
intron-intronENST00000422997ENST00000320356GALNT11chr7

151722969

+EZH2chr7

148529842

-
intron-intronENST00000422997ENST00000350995GALNT11chr7

151722969

+EZH2chr7

148529842

-
intron-intronENST00000422997ENST00000476773GALNT11chr7

151722969

+EZH2chr7

148529842

-
intron-intronENST00000422997ENST00000483967GALNT11chr7

151722969

+EZH2chr7

148529842

-
intron-intronENST00000422997ENST00000541220GALNT11chr7

151722969

+EZH2chr7

148529842

-
intron-intronENST00000434507ENST00000320356GALNT11chr7

151722969

+EZH2chr7

148529842

-
intron-intronENST00000434507ENST00000350995GALNT11chr7

151722969

+EZH2chr7

148529842

-
intron-intronENST00000434507ENST00000476773GALNT11chr7

151722969

+EZH2chr7

148529842

-
intron-intronENST00000434507ENST00000483967GALNT11chr7

151722969

+EZH2chr7

148529842

-
intron-intronENST00000434507ENST00000541220GALNT11chr7

151722969

+EZH2chr7

148529842

-

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 GALNT11-EZH2


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)


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Fusion Protein Features for GALNT11-EZH2


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/:151722969/:148529842)
- 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
GALNT11

Q8NCW6

.
FUNCTION: Polypeptide N-acetylgalactosaminyltransferase that catalyzes the initiation of protein O-linked glycosylation and is involved in left/right asymmetry by mediating O-glycosylation of NOTCH1. O-glycosylation of NOTCH1 promotes activation of NOTCH1, modulating the balance between motile and immotile (sensory) cilia at the left-right organiser (LRO). Polypeptide N-acetylgalactosaminyltransferases catalyze the transfer of an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor. Displays the same enzyme activity toward MUC1, MUC4, and EA2 than GALNT1. Not involved in glycosylation of erythropoietin (EPO). {ECO:0000269|PubMed:11925450, ECO:0000269|PubMed:24226769}.FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.

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 GALNT11-EZH2


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 GALNT11-EZH2


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 GALNT11-EZH2


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 GALNT11-EZH2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneC0265210Weaver syndrome6CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneC0033578Prostatic Neoplasms3CTD_human
TgeneC0376358Malignant neoplasm of prostate3CTD_human
TgeneC0001815Primary Myelofibrosis1CTD_human
TgeneC0006142Malignant neoplasm of breast1CTD_human
TgeneC0007621Neoplastic Cell Transformation1CTD_human
TgeneC0010278Craniosynostosis1CTD_human
TgeneC0014170Endometrial Neoplasms1CTD_human
TgeneC0024301Lymphoma, Follicular1CGI;CTD_human
TgeneC0029463Osteosarcoma1CTD_human
TgeneC0030044Acrocephaly1CTD_human
TgeneC0043094Weight Gain1CTD_human
TgeneC0079744Diffuse Large B-Cell Lymphoma1CGI;CTD_human;UNIPROT
TgeneC0079745Lymphoma, Large-Cell, Follicular1CTD_human
TgeneC0079758Lymphoma, Mixed-Cell, Follicular1CTD_human
TgeneC0079765Lymphoma, Small Cleaved-Cell, Follicular1CTD_human
TgeneC0221356Brachycephaly1CTD_human
TgeneC0265534Scaphycephaly1CTD_human
TgeneC0265535Trigonocephaly1CTD_human
TgeneC0333704Chromosome Breaks1CTD_human
TgeneC0349639Juvenile Myelomonocytic Leukemia1CTD_human
TgeneC0376628Chromosome Breakage1CTD_human
TgeneC0476089Endometrial Carcinoma1CTD_human
TgeneC0678222Breast Carcinoma1CTD_human
TgeneC0749794Upper Extremity Deformities, Congenital1CTD_human
TgeneC1257931Mammary Neoplasms, Human1CTD_human
TgeneC1301355Myelodysplastic-Myeloproliferative Diseases1CTD_human
TgeneC1458155Mammary Neoplasms1CTD_human
TgeneC1833340Synostotic Posterior Plagiocephaly1CTD_human
TgeneC1860789Leukemia, Megakaryoblastic, of Down Syndrome1CTD_human
TgeneC1860819Metopic synostosis1CTD_human
TgeneC1956130Lymphoma, Follicular, Grade 11CTD_human
TgeneC1956131Lymphoma, Follicular, Grade 31CTD_human
TgeneC1956132Lymphoma, Follicular, Grade 21CTD_human
TgeneC2239176Liver carcinoma1CTD_human
TgeneC2713368Hematopoetic Myelodysplasia1CTD_human
TgeneC2931150Synostotic Anterior Plagiocephaly1CTD_human
TgeneC3463824MYELODYSPLASTIC SYNDROME1CTD_human
TgeneC4551902Craniosynostosis, Type 11CTD_human
TgeneC4704874Mammary Carcinoma, Human1CTD_human