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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:MFN2-SLC3A2 (FusionGDB2 ID:HG9927TG6520)

Fusion Gene Summary for MFN2-SLC3A2

check button Fusion gene summary
Fusion gene informationFusion gene name: MFN2-SLC3A2
Fusion gene ID: hg9927tg6520
HgeneTgene
Gene symbol

MFN2

SLC3A2

Gene ID

9927

6520

Gene namemitofusin 2solute carrier family 3 member 2
SynonymsCMT2A|CMT2A2|CMT2A2A|CMT2A2B|CPRP1|HMSN6A|HSG|MARF4F2|4F2HC|4T2HC|CD98|CD98HC|MDU1|NACAE
Cytomap('MFN2')('SLC3A2')

1p36.22

11q12.3

Type of geneprotein-codingprotein-coding
Descriptionmitofusin-2hyperplasia suppressormitochondrial assembly regulatory factortransmembrane GTPase MFN24F2 cell-surface antigen heavy chainCD98 heavy chainantigen defined by monoclonal antibody 4F2, heavy chainantigen identified by monoclonal antibodies 4F2, TRA1.10, TROP4, and T43lymphocyte activation antigen 4F2 large subunitmonoclonal antibody 44D7
Modification date2020032820200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000497302, ENST00000235329, 
ENST00000444836, 
Fusion gene scores* DoF score9 X 8 X 6=43210 X 11 X 7=770
# samples 1013
** MAII scorelog2(10/432*10)=-2.11103131238874
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(13/770*10)=-2.56634682255381
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: MFN2 [Title/Abstract] AND SLC3A2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointMFN2(12040541)-SLC3A2(62650380), # 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
HgeneMFN2

GO:0006626

protein targeting to mitochondrion

11181170

HgeneMFN2

GO:0007006

mitochondrial membrane organization

11181170

HgeneMFN2

GO:0034497

protein localization to phagophore assembly site

23455425

HgeneMFN2

GO:0046580

negative regulation of Ras protein signal transduction

15322553

HgeneMFN2

GO:0051646

mitochondrion localization

11181170



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
ChimerDB4BRCATCGA-A2-A0YT-01AMFN2chr1

12040541

+SLC3A2chr11

62650380

+


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Fusion Gene ORF analysis for MFN2-SLC3A2

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-3CDSENST00000497302ENST00000338663MFN2chr1

12040541

+SLC3A2chr11

62650380

+
3UTR-3CDSENST00000497302ENST00000377889MFN2chr1

12040541

+SLC3A2chr11

62650380

+
3UTR-3CDSENST00000497302ENST00000377890MFN2chr1

12040541

+SLC3A2chr11

62650380

+
3UTR-3CDSENST00000497302ENST00000377891MFN2chr1

12040541

+SLC3A2chr11

62650380

+
3UTR-3CDSENST00000497302ENST00000377892MFN2chr1

12040541

+SLC3A2chr11

62650380

+
3UTR-3CDSENST00000497302ENST00000535296MFN2chr1

12040541

+SLC3A2chr11

62650380

+
3UTR-3UTRENST00000497302ENST00000538682MFN2chr1

12040541

+SLC3A2chr11

62650380

+
3UTR-5UTRENST00000497302ENST00000536981MFN2chr1

12040541

+SLC3A2chr11

62650380

+
5UTR-3CDSENST00000235329ENST00000338663MFN2chr1

12040541

+SLC3A2chr11

62650380

+
5UTR-3CDSENST00000235329ENST00000377889MFN2chr1

12040541

+SLC3A2chr11

62650380

+
5UTR-3CDSENST00000235329ENST00000377890MFN2chr1

12040541

+SLC3A2chr11

62650380

+
5UTR-3CDSENST00000235329ENST00000377891MFN2chr1

12040541

+SLC3A2chr11

62650380

+
5UTR-3CDSENST00000235329ENST00000377892MFN2chr1

12040541

+SLC3A2chr11

62650380

+
5UTR-3CDSENST00000235329ENST00000535296MFN2chr1

12040541

+SLC3A2chr11

62650380

+
5UTR-3CDSENST00000444836ENST00000338663MFN2chr1

12040541

+SLC3A2chr11

62650380

+
5UTR-3CDSENST00000444836ENST00000377889MFN2chr1

12040541

+SLC3A2chr11

62650380

+
5UTR-3CDSENST00000444836ENST00000377890MFN2chr1

12040541

+SLC3A2chr11

62650380

+
5UTR-3CDSENST00000444836ENST00000377891MFN2chr1

12040541

+SLC3A2chr11

62650380

+
5UTR-3CDSENST00000444836ENST00000377892MFN2chr1

12040541

+SLC3A2chr11

62650380

+
5UTR-3CDSENST00000444836ENST00000535296MFN2chr1

12040541

+SLC3A2chr11

62650380

+
5UTR-3UTRENST00000235329ENST00000538682MFN2chr1

12040541

+SLC3A2chr11

62650380

+
5UTR-3UTRENST00000444836ENST00000538682MFN2chr1

12040541

+SLC3A2chr11

62650380

+
5UTR-5UTRENST00000235329ENST00000536981MFN2chr1

12040541

+SLC3A2chr11

62650380

+
5UTR-5UTRENST00000444836ENST00000536981MFN2chr1

12040541

+SLC3A2chr11

62650380

+

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 MFN2-SLC3A2


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 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 MFN2-SLC3A2


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/:12040541/:62650380)
- 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 MFN2-SLC3A2


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 MFN2-SLC3A2


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 MFN2-SLC3A2


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 MFN2-SLC3A2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneMFN2C4721887CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A7GENOMICS_ENGLAND;UNIPROT
HgeneMFN2C0393807Hereditary motor and sensory neuropathy with optic atrophy (disorder)6CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneMFN2C4310725CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B5CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneMFN2C0011881Diabetic Nephropathy1CTD_human
HgeneMFN2C0017667Nodular glomerulosclerosis1CTD_human
HgeneMFN2C0018800Cardiomegaly1CTD_human
HgeneMFN2C0020429Hyperalgesia1CTD_human
HgeneMFN2C0023804Lipomatosis, Multiple Symmetrical1ORPHANET
HgeneMFN2C0029124Optic Atrophy1GENOMICS_ENGLAND
HgeneMFN2C0458247Allodynia1CTD_human
HgeneMFN2C0600519Ventricular Remodeling1CTD_human
HgeneMFN2C0600520Left Ventricle Remodeling1CTD_human
HgeneMFN2C0751211Hyperalgesia, Primary1CTD_human
HgeneMFN2C0751212Hyperalgesia, Secondary1CTD_human
HgeneMFN2C0751213Tactile Allodynia1CTD_human
HgeneMFN2C0751214Hyperalgesia, Thermal1CTD_human
HgeneMFN2C1383860Cardiac Hypertrophy1CTD_human
HgeneMFN2C2936719Mechanical Allodynia1CTD_human
TgeneC0024121Lung Neoplasms1CTD_human
TgeneC0242379Malignant neoplasm of lung1CTD_human