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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:TANK-EHMT1 (FusionGDB2 ID:88990)

Fusion Gene Summary for TANK-EHMT1

check button Fusion gene summary
Fusion gene informationFusion gene name: TANK-EHMT1
Fusion gene ID: 88990
HgeneTgene
Gene symbol

TANK

EHMT1

Gene ID

10010

79813

Gene nameTRAF family member associated NFKB activatoreuchromatic histone lysine methyltransferase 1
SynonymsI-TRAF|ITRAF|TRAF2EHMT1-IT1|EUHMTASE1|Eu-HMTase1|FP13812|GLP|GLP1|KLEFS1|KMT1D
Cytomap

2q24.2

9q34.3

Type of geneprotein-codingprotein-coding
DescriptionTRAF family member-associated NF-kappa-B activatorTRAF-interacting proteinhistone-lysine N-methyltransferase EHMT1EHMT1 intronic transcript 1G9a-like protein 1H3-K9-HMTase 5euchromatic histone-lysine N-methyltransferase 1histone H3-K9 methyltransferase 5histone-lysine N-methyltransferase, H3 lysine-9 specific 5lysine N-m
Modification date2020031320200313
UniProtAcc.

Q9H9B1

Ensembl transtripts involved in fusion geneENST00000259075, ENST00000392749, 
ENST00000402568, ENST00000403609, 
ENST00000405852, ENST00000406287, 
ENST00000457476, ENST00000461338, 
ENST00000334856, ENST00000371394, 
ENST00000460843, ENST00000462484, 
Fusion gene scores* DoF score9 X 8 X 6=43215 X 14 X 10=2100
# samples 921
** MAII scorelog2(9/432*10)=-2.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(21/2100*10)=-3.32192809488736
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: TANK [Title/Abstract] AND EHMT1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint
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
TgeneEHMT1

GO:0006325

chromatin organization

12004135

TgeneEHMT1

GO:0016571

histone methylation

12004135

TgeneEHMT1

GO:0018027

peptidyl-lysine dimethylation

20118233


check buttonFusion gene breakpoints across TANK (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 EHMT1 (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
ChimerKB4..TANKchr2

161993465

+EHMT1chr9

161993465

+


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Fusion Gene ORF analysis for TANK-EHMT1

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-intronENST00000259075ENST00000334856TANKchr2

161993465

+EHMT1chr9

161993465

+
5UTR-intronENST00000259075ENST00000371394TANKchr2

161993465

+EHMT1chr9

161993465

+
5UTR-intronENST00000259075ENST00000460843TANKchr2

161993465

+EHMT1chr9

161993465

+
5UTR-intronENST00000259075ENST00000462484TANKchr2

161993465

+EHMT1chr9

161993465

+
intron-intronENST00000392749ENST00000334856TANKchr2

161993465

+EHMT1chr9

161993465

+
intron-intronENST00000392749ENST00000371394TANKchr2

161993465

+EHMT1chr9

161993465

+
intron-intronENST00000392749ENST00000460843TANKchr2

161993465

+EHMT1chr9

161993465

+
intron-intronENST00000392749ENST00000462484TANKchr2

161993465

+EHMT1chr9

161993465

+
intron-intronENST00000402568ENST00000334856TANKchr2

161993465

+EHMT1chr9

161993465

+
intron-intronENST00000402568ENST00000371394TANKchr2

161993465

+EHMT1chr9

161993465

+
intron-intronENST00000402568ENST00000460843TANKchr2

161993465

+EHMT1chr9

161993465

+
intron-intronENST00000402568ENST00000462484TANKchr2

161993465

+EHMT1chr9

161993465

+
intron-intronENST00000403609ENST00000334856TANKchr2

161993465

+EHMT1chr9

161993465

+
intron-intronENST00000403609ENST00000371394TANKchr2

161993465

+EHMT1chr9

161993465

+
intron-intronENST00000403609ENST00000460843TANKchr2

161993465

+EHMT1chr9

161993465

+
intron-intronENST00000403609ENST00000462484TANKchr2

161993465

+EHMT1chr9

161993465

+
intron-intronENST00000405852ENST00000334856TANKchr2

161993465

+EHMT1chr9

161993465

+
intron-intronENST00000405852ENST00000371394TANKchr2

161993465

+EHMT1chr9

161993465

+
intron-intronENST00000405852ENST00000460843TANKchr2

161993465

+EHMT1chr9

161993465

+
intron-intronENST00000405852ENST00000462484TANKchr2

161993465

+EHMT1chr9

161993465

+
intron-intronENST00000406287ENST00000334856TANKchr2

161993465

+EHMT1chr9

161993465

+
intron-intronENST00000406287ENST00000371394TANKchr2

161993465

+EHMT1chr9

161993465

+
intron-intronENST00000406287ENST00000460843TANKchr2

161993465

+EHMT1chr9

161993465

+
intron-intronENST00000406287ENST00000462484TANKchr2

161993465

+EHMT1chr9

161993465

+
intron-intronENST00000457476ENST00000334856TANKchr2

161993465

+EHMT1chr9

161993465

+
intron-intronENST00000457476ENST00000371394TANKchr2

161993465

+EHMT1chr9

161993465

+
intron-intronENST00000457476ENST00000460843TANKchr2

161993465

+EHMT1chr9

161993465

+
intron-intronENST00000457476ENST00000462484TANKchr2

161993465

+EHMT1chr9

161993465

+
intron-intronENST00000461338ENST00000334856TANKchr2

161993465

+EHMT1chr9

161993465

+
intron-intronENST00000461338ENST00000371394TANKchr2

161993465

+EHMT1chr9

161993465

+
intron-intronENST00000461338ENST00000460843TANKchr2

161993465

+EHMT1chr9

161993465

+
intron-intronENST00000461338ENST00000462484TANKchr2

161993465

+EHMT1chr9

161993465

+

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 TANK-EHMT1


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 TANK-EHMT1


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/:/:)
- 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
.EHMT1

Q9H9B1

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}.FUNCTION: Histone methyltransferase that specifically mono- and dimethylates 'Lys-9' of histone H3 (H3K9me1 and H3K9me2, respectively) in euchromatin. H3K9me represents a specific tag for epigenetic transcriptional repression by recruiting HP1 proteins to methylated histones. Also weakly methylates 'Lys-27' of histone H3 (H3K27me). Also required for DNA methylation, the histone methyltransferase activity is not required for DNA methylation, suggesting that these 2 activities function independently. Probably targeted to histone H3 by different DNA-binding proteins like E2F6, MGA, MAX and/or DP1. During G0 phase, it probably contributes to silencing of MYC- and E2F-responsive genes, suggesting a role in G0/G1 transition in cell cycle. In addition to the histone methyltransferase activity, also methylates non-histone proteins: mediates dimethylation of 'Lys-373' of p53/TP53. Represses the expression of mitochondrial function-related genes, perhaps by occupying their promoter regions, working in concert with probable chromatin reader BAZ2B (By similarity). {ECO:0000250|UniProtKB:Q5DW34, ECO:0000269|PubMed:12004135, ECO:0000269|PubMed:20118233}.

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 TANK-EHMT1


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 TANK-EHMT1


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 TANK-EHMT1


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 TANK-EHMT1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource