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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:HMGXB4-MGMT (FusionGDB2 ID:HG10042TG4255)

Fusion Gene Summary for HMGXB4-MGMT

check button Fusion gene summary
Fusion gene informationFusion gene name: HMGXB4-MGMT
Fusion gene ID: hg10042tg4255
HgeneTgene
Gene symbol

HMGXB4

MGMT

Gene ID

10042

4255

Gene nameHMG-box containing 4O-6-methylguanine-DNA methyltransferase
SynonymsHMG2L1|HMGBCG|THC211630-
Cytomap('HMGXB4')('MGMT')

22q12.3

10q26.3

Type of geneprotein-codingprotein-coding
DescriptionHMG domain-containing protein 4HMG box domain containing 4HMG box-containing protein 4high mobility group protein 2-like 1methylated-DNA--protein-cysteine methyltransferase6-O-methylguanine-DNA methyltransferaseO-6-methylguanine-DNA-alkyltransferaseO6-methylguanine-DNA methyltransferasemethylguanine-DNA methyltransferase
Modification date2020031320200315
UniProtAcc.

P16455

Ensembl transtripts involved in fusion geneENST00000466438, ENST00000216106, 
ENST00000444518, 
Fusion gene scores* DoF score2 X 2 X 2=819 X 11 X 7=1463
# samples 218
** MAII scorelog2(2/8*10)=1.32192809488736log2(18/1463*10)=-3.02286095780881
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: HMGXB4 [Title/Abstract] AND MGMT [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointHMGXB4(35653550)-MGMT(131506159), # samples:3
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
TgeneMGMT

GO:0043066

negative regulation of apoptotic process

24147153

TgeneMGMT

GO:2000781

positive regulation of double-strand break repair

24147153



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
ChimerDB4SKCMTCGA-W3-AA1R-06AHMGXB4chr22

35653550

+MGMTchr10

131445026

+
ChimerDB4SKCMTCGA-W3-AA1R-06AHMGXB4chr22

35653550

-MGMTchr10

131506159

+
ChimerDB4SKCMTCGA-W3-AA1R-06AHMGXB4chr22

35653550

+MGMTchr10

131506159

+


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Fusion Gene ORF analysis for HMGXB4-MGMT

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-3CDSENST00000466438ENST00000306010HMGXB4chr22

35653550

+MGMTchr10

131506159

+
3UTR-3UTRENST00000466438ENST00000462672HMGXB4chr22

35653550

+MGMTchr10

131506159

+
3UTR-intronENST00000466438ENST00000306010HMGXB4chr22

35653550

+MGMTchr10

131445026

+
3UTR-intronENST00000466438ENST00000462672HMGXB4chr22

35653550

+MGMTchr10

131445026

+
5UTR-3CDSENST00000216106ENST00000306010HMGXB4chr22

35653550

+MGMTchr10

131506159

+
5UTR-3CDSENST00000444518ENST00000306010HMGXB4chr22

35653550

+MGMTchr10

131506159

+
5UTR-3UTRENST00000216106ENST00000462672HMGXB4chr22

35653550

+MGMTchr10

131506159

+
5UTR-3UTRENST00000444518ENST00000462672HMGXB4chr22

35653550

+MGMTchr10

131506159

+
5UTR-intronENST00000216106ENST00000306010HMGXB4chr22

35653550

+MGMTchr10

131445026

+
5UTR-intronENST00000216106ENST00000462672HMGXB4chr22

35653550

+MGMTchr10

131445026

+
5UTR-intronENST00000444518ENST00000306010HMGXB4chr22

35653550

+MGMTchr10

131445026

+
5UTR-intronENST00000444518ENST00000462672HMGXB4chr22

35653550

+MGMTchr10

131445026

+

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 HMGXB4-MGMT


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)
HMGXB4chr2235653550+MGMTchr10131506158+6.35E-070.9999994
HMGXB4chr2235653550+MGMTchr10131506158+6.35E-070.9999994


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.
genomic feature of top 1%

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Fusion Protein Features for HMGXB4-MGMT


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/:35653550/:131506159)
- 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
.MGMT

P16455

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: Involved in the cellular defense against the biological effects of O6-methylguanine (O6-MeG) and O4-methylthymine (O4-MeT) in DNA. Repairs the methylated nucleobase in DNA by stoichiometrically transferring the methyl group to a cysteine residue in the enzyme. This is a suicide reaction: the enzyme is irreversibly inactivated.

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 HMGXB4-MGMT


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 HMGXB4-MGMT


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 HMGXB4-MGMT


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneMGMTP16455DB14548Zinc sulfate, unspecified formStabilizationSmall moleculeApproved|Experimental
TgeneMGMTP16455DB01593ZincSmall moleculeApproved|Investigational
TgeneMGMTP16455DB14487Zinc acetateSmall moleculeApproved|Investigational
TgeneMGMTP16455DB14533Zinc chlorideStabilizationSmall moleculeApproved|Investigational
TgeneMGMTP16455DB00151CysteineSmall moleculeApproved|Nutraceutical

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Related Diseases for HMGXB4-MGMT


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneHMGXB4C0005586Bipolar Disorder1PSYGENET
HgeneHMGXB4C1839839MAJOR AFFECTIVE DISORDER 21PSYGENET
TgeneC0334588Giant Cell Glioblastoma4CTD_human;ORPHANET
TgeneC0017638Glioma3CTD_human
TgeneC0259783mixed gliomas3CTD_human
TgeneC0555198Malignant Glioma3CTD_human
TgeneC0017636Glioblastoma2CTD_human
TgeneC0206726gliosarcoma2ORPHANET
TgeneC1621958Glioblastoma Multiforme2CTD_human
TgeneC0006118Brain Neoplasms1CTD_human
TgeneC0023418leukemia1CTD_human
TgeneC0023893Liver Cirrhosis, Experimental1CTD_human
TgeneC0026640Mouth Neoplasms1CTD_human
TgeneC0027540Necrosis1CTD_human
TgeneC0032927Precancerous Conditions1CTD_human
TgeneC0153381Malignant neoplasm of mouth1CTD_human
TgeneC0153633Malignant neoplasm of brain1CTD_human
TgeneC0279626Squamous cell carcinoma of esophagus1CTD_human
TgeneC0282313Condition, Preneoplastic1CTD_human
TgeneC0496899Benign neoplasm of brain, unspecified1CTD_human
TgeneC0750974Brain Tumor, Primary1CTD_human
TgeneC0750977Recurrent Brain Neoplasm1CTD_human
TgeneC0750979Primary malignant neoplasm of brain1CTD_human
TgeneC1168401Squamous cell carcinoma of the head and neck1CTD_human
TgeneC1449861Micronuclei, Chromosome-Defective1CTD_human
TgeneC1449862Micronuclei, Genotoxicant-Induced1CTD_human
TgeneC1527390Neoplasms, Intracranial1CTD_human
TgeneC2314896Familial Atypical Mole Melanoma Syndrome1ORPHANET