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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:HAGH-DNMT3B (FusionGDB2 ID:35588)

Fusion Gene Summary for HAGH-DNMT3B

check button Fusion gene summary
Fusion gene informationFusion gene name: HAGH-DNMT3B
Fusion gene ID: 35588
HgeneTgene
Gene symbol

HAGH

DNMT3B

Gene ID

3029

1789

Gene namehydroxyacylglutathione hydrolaseDNA methyltransferase 3 beta
SynonymsGLO2|GLX2|GLXII|HAGH1ICF|ICF1|M.HsaIIIB
Cytomap

16p13.3

20q11.21

Type of geneprotein-codingprotein-coding
Descriptionhydroxyacylglutathione hydrolase, mitochondrialglyoxalase IIhydroxyacylglutathione hydroxylaseDNA (cytosine-5)-methyltransferase 3BDNA (cytosine-5-)-methyltransferase 3 betaDNA MTase HsaIIIBDNA cytosine-5--methyltransferase 3 betaDNA methyltransferase HsaIIIB
Modification date2020031320200313
UniProtAcc

Q16775

Q9UBC3

Ensembl transtripts involved in fusion geneENST00000397353, ENST00000567398, 
ENST00000397356, ENST00000455446, 
ENST00000566709, 
ENST00000201963, 
ENST00000328111, ENST00000344505, 
ENST00000348286, ENST00000353855, 
ENST00000375623, ENST00000443239, 
ENST00000456297, 
Fusion gene scores* DoF score2 X 2 X 2=82 X 2 X 1=4
# samples 22
** MAII scorelog2(2/8*10)=1.32192809488736log2(2/4*10)=2.32192809488736
Context

PubMed: HAGH [Title/Abstract] AND DNMT3B [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointHAGH(1859104)-DNMT3B(31373704), # 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
HgeneHAGH

GO:0006750

glutathione biosynthetic process

8550579

TgeneDNMT3B

GO:0000122

negative regulation of transcription by RNA polymerase II

17303076


check buttonFusion gene breakpoints across HAGH (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 DNMT3B (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/ABF338241HAGHchr16

1859104

-DNMT3Bchr20

31373704

-


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Fusion Gene ORF analysis for HAGH-DNMT3B

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-intronENST00000397353ENST00000201963HAGHchr16

1859104

-DNMT3Bchr20

31373704

-
5CDS-intronENST00000397353ENST00000328111HAGHchr16

1859104

-DNMT3Bchr20

31373704

-
5CDS-intronENST00000397353ENST00000344505HAGHchr16

1859104

-DNMT3Bchr20

31373704

-
5CDS-intronENST00000397353ENST00000348286HAGHchr16

1859104

-DNMT3Bchr20

31373704

-
5CDS-intronENST00000397353ENST00000353855HAGHchr16

1859104

-DNMT3Bchr20

31373704

-
5CDS-intronENST00000397353ENST00000375623HAGHchr16

1859104

-DNMT3Bchr20

31373704

-
5CDS-intronENST00000397353ENST00000443239HAGHchr16

1859104

-DNMT3Bchr20

31373704

-
5CDS-intronENST00000397353ENST00000456297HAGHchr16

1859104

-DNMT3Bchr20

31373704

-
5CDS-intronENST00000567398ENST00000201963HAGHchr16

1859104

-DNMT3Bchr20

31373704

-
5CDS-intronENST00000567398ENST00000328111HAGHchr16

1859104

-DNMT3Bchr20

31373704

-
5CDS-intronENST00000567398ENST00000344505HAGHchr16

1859104

-DNMT3Bchr20

31373704

-
5CDS-intronENST00000567398ENST00000348286HAGHchr16

1859104

-DNMT3Bchr20

31373704

-
5CDS-intronENST00000567398ENST00000353855HAGHchr16

1859104

-DNMT3Bchr20

31373704

-
5CDS-intronENST00000567398ENST00000375623HAGHchr16

1859104

-DNMT3Bchr20

31373704

-
5CDS-intronENST00000567398ENST00000443239HAGHchr16

1859104

-DNMT3Bchr20

31373704

-
5CDS-intronENST00000567398ENST00000456297HAGHchr16

1859104

-DNMT3Bchr20

31373704

-
intron-intronENST00000397356ENST00000201963HAGHchr16

1859104

-DNMT3Bchr20

31373704

-
intron-intronENST00000397356ENST00000328111HAGHchr16

1859104

-DNMT3Bchr20

31373704

-
intron-intronENST00000397356ENST00000344505HAGHchr16

1859104

-DNMT3Bchr20

31373704

-
intron-intronENST00000397356ENST00000348286HAGHchr16

1859104

-DNMT3Bchr20

31373704

-
intron-intronENST00000397356ENST00000353855HAGHchr16

1859104

-DNMT3Bchr20

31373704

-
intron-intronENST00000397356ENST00000375623HAGHchr16

1859104

-DNMT3Bchr20

31373704

-
intron-intronENST00000397356ENST00000443239HAGHchr16

1859104

-DNMT3Bchr20

31373704

-
intron-intronENST00000397356ENST00000456297HAGHchr16

1859104

-DNMT3Bchr20

31373704

-
intron-intronENST00000455446ENST00000201963HAGHchr16

1859104

-DNMT3Bchr20

31373704

-
intron-intronENST00000455446ENST00000328111HAGHchr16

1859104

-DNMT3Bchr20

31373704

-
intron-intronENST00000455446ENST00000344505HAGHchr16

1859104

-DNMT3Bchr20

31373704

-
intron-intronENST00000455446ENST00000348286HAGHchr16

1859104

-DNMT3Bchr20

31373704

-
intron-intronENST00000455446ENST00000353855HAGHchr16

1859104

-DNMT3Bchr20

31373704

-
intron-intronENST00000455446ENST00000375623HAGHchr16

1859104

-DNMT3Bchr20

31373704

-
intron-intronENST00000455446ENST00000443239HAGHchr16

1859104

-DNMT3Bchr20

31373704

-
intron-intronENST00000455446ENST00000456297HAGHchr16

1859104

-DNMT3Bchr20

31373704

-
intron-intronENST00000566709ENST00000201963HAGHchr16

1859104

-DNMT3Bchr20

31373704

-
intron-intronENST00000566709ENST00000328111HAGHchr16

1859104

-DNMT3Bchr20

31373704

-
intron-intronENST00000566709ENST00000344505HAGHchr16

1859104

-DNMT3Bchr20

31373704

-
intron-intronENST00000566709ENST00000348286HAGHchr16

1859104

-DNMT3Bchr20

31373704

-
intron-intronENST00000566709ENST00000353855HAGHchr16

1859104

-DNMT3Bchr20

31373704

-
intron-intronENST00000566709ENST00000375623HAGHchr16

1859104

-DNMT3Bchr20

31373704

-
intron-intronENST00000566709ENST00000443239HAGHchr16

1859104

-DNMT3Bchr20

31373704

-
intron-intronENST00000566709ENST00000456297HAGHchr16

1859104

-DNMT3Bchr20

31373704

-

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 HAGH-DNMT3B


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 HAGH-DNMT3B


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/:1859104/:31373704)
- 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
HAGH

Q16775

DNMT3B

Q9UBC3

FUNCTION: Thiolesterase that catalyzes the hydrolysis of S-D-lactoyl-glutathione to form glutathione and D-lactic acid.FUNCTION: Required for genome-wide de novo methylation and is essential for the establishment of DNA methylation patterns during development. DNA methylation is coordinated with methylation of histones. May preferentially methylates nucleosomal DNA within the nucleosome core region. May function as transcriptional co-repressor by associating with CBX4 and independently of DNA methylation. Seems to be involved in gene silencing (By similarity). In association with DNMT1 and via the recruitment of CTCFL/BORIS, involved in activation of BAG1 gene expression by modulating dimethylation of promoter histone H3 at H3K4 and H3K9. Isoforms 4 and 5 are probably not functional due to the deletion of two conserved methyltransferase motifs. Functions as a transcriptional corepressor by associating with ZHX1. Required for DUX4 silencing in somatic cells (PubMed:27153398). {ECO:0000250, ECO:0000269|PubMed:16357870, ECO:0000269|PubMed:17303076, ECO:0000269|PubMed:18413740, ECO:0000269|PubMed:18567530, ECO:0000269|PubMed:27153398}.

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 HAGH-DNMT3B


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 HAGH-DNMT3B


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 HAGH-DNMT3B


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 HAGH-DNMT3B


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