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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:DGAT2-TMEM126A (FusionGDB2 ID:HG84649TG84233)

Fusion Gene Summary for DGAT2-TMEM126A

check button Fusion gene summary
Fusion gene informationFusion gene name: DGAT2-TMEM126A
Fusion gene ID: hg84649tg84233
HgeneTgene
Gene symbol

DGAT2

TMEM126A

Gene ID

84649

84233

Gene namediacylglycerol O-acyltransferase 2transmembrane protein 126A
SynonymsARAT|GS1999FULL|HMFN1045OPA7
Cytomap('DGAT2')('TMEM126A')

11q13.5

11q14.1

Type of geneprotein-codingprotein-coding
Descriptiondiacylglycerol O-acyltransferase 2acyl-CoA retinol O-fatty-acyltransferasediacylglycerol O-acyltransferase homolog 2diacylglycerol O-acyltransferase-like protein 2diglyceride acyltransferase 2transmembrane protein 126A
Modification date2020032720200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000605608, ENST00000228027, 
ENST00000376262, 
Fusion gene scores* DoF score3 X 3 X 2=182 X 3 X 2=12
# samples 32
** MAII scorelog2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(2/12*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: DGAT2 [Title/Abstract] AND TMEM126A [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointDGAT2(75480157)-TMEM126A(85365107), # samples:2
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
HgeneDGAT2

GO:0019432

triglyceride biosynthetic process

11481335|27184406

HgeneDGAT2

GO:0035336

long-chain fatty-acyl-CoA metabolic process

11481335

HgeneDGAT2

GO:0046339

diacylglycerol metabolic process

11481335



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-ER-A197-06ADGAT2chr11

75480157

-TMEM126Achr11

85361293

+
ChimerDB4SKCMTCGA-ER-A197-06ADGAT2chr11

75480157

+TMEM126Achr11

85365107

+


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Fusion Gene ORF analysis for DGAT2-TMEM126A

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-5UTRENST00000605608ENST00000304511DGAT2chr11

75480157

-TMEM126Achr11

85361293

+
3UTR-5UTRENST00000605608ENST00000304511DGAT2chr11

75480157

+TMEM126Achr11

85365107

+
3UTR-5UTRENST00000605608ENST00000528105DGAT2chr11

75480157

+TMEM126Achr11

85365107

+
3UTR-5UTRENST00000605608ENST00000532180DGAT2chr11

75480157

+TMEM126Achr11

85365107

+
3UTR-intronENST00000605608ENST00000528105DGAT2chr11

75480157

-TMEM126Achr11

85361293

+
3UTR-intronENST00000605608ENST00000532180DGAT2chr11

75480157

-TMEM126Achr11

85361293

+
5CDS-5UTRENST00000228027ENST00000304511DGAT2chr11

75480157

-TMEM126Achr11

85361293

+
5CDS-5UTRENST00000228027ENST00000304511DGAT2chr11

75480157

+TMEM126Achr11

85365107

+
5CDS-5UTRENST00000228027ENST00000528105DGAT2chr11

75480157

+TMEM126Achr11

85365107

+
5CDS-5UTRENST00000228027ENST00000532180DGAT2chr11

75480157

+TMEM126Achr11

85365107

+
5CDS-5UTRENST00000376262ENST00000304511DGAT2chr11

75480157

-TMEM126Achr11

85361293

+
5CDS-5UTRENST00000376262ENST00000304511DGAT2chr11

75480157

+TMEM126Achr11

85365107

+
5CDS-5UTRENST00000376262ENST00000528105DGAT2chr11

75480157

+TMEM126Achr11

85365107

+
5CDS-5UTRENST00000376262ENST00000532180DGAT2chr11

75480157

+TMEM126Achr11

85365107

+
5CDS-intronENST00000228027ENST00000528105DGAT2chr11

75480157

-TMEM126Achr11

85361293

+
5CDS-intronENST00000228027ENST00000532180DGAT2chr11

75480157

-TMEM126Achr11

85361293

+
5CDS-intronENST00000376262ENST00000528105DGAT2chr11

75480157

-TMEM126Achr11

85361293

+
5CDS-intronENST00000376262ENST00000532180DGAT2chr11

75480157

-TMEM126Achr11

85361293

+

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 DGAT2-TMEM126A


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)
DGAT2chr1175480157+TMEM126Achr1185365106+0.0020758860.9979241
DGAT2chr1175480157+TMEM126Achr1185365106+0.0020758860.9979241


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 DGAT2-TMEM126A


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/:75480157/:85365107)
- 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
..
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: 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 DGAT2-TMEM126A


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 DGAT2-TMEM126A


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 DGAT2-TMEM126A


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 DGAT2-TMEM126A


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneDGAT2C0008370Cholestasis1CTD_human
HgeneDGAT2C0019193Hepatitis, Toxic1CTD_human
HgeneDGAT2C0860207Drug-Induced Liver Disease1CTD_human
HgeneDGAT2C1262760Hepatitis, Drug-Induced1CTD_human
HgeneDGAT2C3658290Drug-Induced Acute Liver Injury1CTD_human
HgeneDGAT2C4277682Chemical and Drug Induced Liver Injury1CTD_human
HgeneDGAT2C4279912Chemically-Induced Liver Toxicity1CTD_human
TgeneC2751812OPTIC ATROPHY 7 (disorder)3CTD_human;GENOMICS_ENGLAND;ORPHANET