![]() |
||||||
|
![]() | Fusion Gene Summary |
![]() | Fusion Gene ORF analysis |
![]() | Fusion Genomic Features |
![]() | Fusion Protein Features |
![]() | Fusion Gene Sequence |
![]() | Fusion Gene PPI analysis |
![]() | Related Drugs |
![]() | Related Diseases |
Fusion gene:MFN2-SLC3A2 (FusionGDB2 ID:HG9927TG6520) |
Fusion Gene Summary for MFN2-SLC3A2 |
![]() |
Fusion gene information | Fusion gene name: MFN2-SLC3A2 | Fusion gene ID: hg9927tg6520 | Hgene | Tgene | Gene symbol | MFN2 | SLC3A2 | Gene ID | 9927 | 6520 |
Gene name | mitofusin 2 | solute carrier family 3 member 2 | |
Synonyms | CMT2A|CMT2A2|CMT2A2A|CMT2A2B|CPRP1|HMSN6A|HSG|MARF | 4F2|4F2HC|4T2HC|CD98|CD98HC|MDU1|NACAE | |
Cytomap | ('MFN2')('SLC3A2') 1p36.22 | 11q12.3 | |
Type of gene | protein-coding | protein-coding | |
Description | mitofusin-2hyperplasia suppressormitochondrial assembly regulatory factortransmembrane GTPase MFN2 | 4F2 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 date | 20200328 | 20200313 | |
UniProtAcc | . | . | |
Ensembl transtripts involved in fusion gene | ENST00000497302, ENST00000235329, ENST00000444836, | ||
Fusion gene scores | * DoF score | 9 X 8 X 6=432 | 10 X 11 X 7=770 |
# samples | 10 | 13 | |
** MAII score | log2(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 breakpoint | MFN2(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) |
![]() |
Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | MFN2 | GO:0006626 | protein targeting to mitochondrion | 11181170 |
Hgene | MFN2 | GO:0007006 | mitochondrial membrane organization | 11181170 |
Hgene | MFN2 | GO:0034497 | protein localization to phagophore assembly site | 23455425 |
Hgene | MFN2 | GO:0046580 | negative regulation of Ras protein signal transduction | 15322553 |
Hgene | MFN2 | GO:0051646 | mitochondrion localization | 11181170 |
![]() * 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. |
Source | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
ChimerDB4 | BRCA | TCGA-A2-A0YT-01A | MFN2 | chr1 | 12040541 | + | SLC3A2 | chr11 | 62650380 | + |
Top |
Fusion Gene ORF analysis for MFN2-SLC3A2 |
![]() * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
3UTR-3CDS | ENST00000497302 | ENST00000338663 | MFN2 | chr1 | 12040541 | + | SLC3A2 | chr11 | 62650380 | + |
3UTR-3CDS | ENST00000497302 | ENST00000377889 | MFN2 | chr1 | 12040541 | + | SLC3A2 | chr11 | 62650380 | + |
3UTR-3CDS | ENST00000497302 | ENST00000377890 | MFN2 | chr1 | 12040541 | + | SLC3A2 | chr11 | 62650380 | + |
3UTR-3CDS | ENST00000497302 | ENST00000377891 | MFN2 | chr1 | 12040541 | + | SLC3A2 | chr11 | 62650380 | + |
3UTR-3CDS | ENST00000497302 | ENST00000377892 | MFN2 | chr1 | 12040541 | + | SLC3A2 | chr11 | 62650380 | + |
3UTR-3CDS | ENST00000497302 | ENST00000535296 | MFN2 | chr1 | 12040541 | + | SLC3A2 | chr11 | 62650380 | + |
3UTR-3UTR | ENST00000497302 | ENST00000538682 | MFN2 | chr1 | 12040541 | + | SLC3A2 | chr11 | 62650380 | + |
3UTR-5UTR | ENST00000497302 | ENST00000536981 | MFN2 | chr1 | 12040541 | + | SLC3A2 | chr11 | 62650380 | + |
5UTR-3CDS | ENST00000235329 | ENST00000338663 | MFN2 | chr1 | 12040541 | + | SLC3A2 | chr11 | 62650380 | + |
5UTR-3CDS | ENST00000235329 | ENST00000377889 | MFN2 | chr1 | 12040541 | + | SLC3A2 | chr11 | 62650380 | + |
5UTR-3CDS | ENST00000235329 | ENST00000377890 | MFN2 | chr1 | 12040541 | + | SLC3A2 | chr11 | 62650380 | + |
5UTR-3CDS | ENST00000235329 | ENST00000377891 | MFN2 | chr1 | 12040541 | + | SLC3A2 | chr11 | 62650380 | + |
5UTR-3CDS | ENST00000235329 | ENST00000377892 | MFN2 | chr1 | 12040541 | + | SLC3A2 | chr11 | 62650380 | + |
5UTR-3CDS | ENST00000235329 | ENST00000535296 | MFN2 | chr1 | 12040541 | + | SLC3A2 | chr11 | 62650380 | + |
5UTR-3CDS | ENST00000444836 | ENST00000338663 | MFN2 | chr1 | 12040541 | + | SLC3A2 | chr11 | 62650380 | + |
5UTR-3CDS | ENST00000444836 | ENST00000377889 | MFN2 | chr1 | 12040541 | + | SLC3A2 | chr11 | 62650380 | + |
5UTR-3CDS | ENST00000444836 | ENST00000377890 | MFN2 | chr1 | 12040541 | + | SLC3A2 | chr11 | 62650380 | + |
5UTR-3CDS | ENST00000444836 | ENST00000377891 | MFN2 | chr1 | 12040541 | + | SLC3A2 | chr11 | 62650380 | + |
5UTR-3CDS | ENST00000444836 | ENST00000377892 | MFN2 | chr1 | 12040541 | + | SLC3A2 | chr11 | 62650380 | + |
5UTR-3CDS | ENST00000444836 | ENST00000535296 | MFN2 | chr1 | 12040541 | + | SLC3A2 | chr11 | 62650380 | + |
5UTR-3UTR | ENST00000235329 | ENST00000538682 | MFN2 | chr1 | 12040541 | + | SLC3A2 | chr11 | 62650380 | + |
5UTR-3UTR | ENST00000444836 | ENST00000538682 | MFN2 | chr1 | 12040541 | + | SLC3A2 | chr11 | 62650380 | + |
5UTR-5UTR | ENST00000235329 | ENST00000536981 | MFN2 | chr1 | 12040541 | + | SLC3A2 | chr11 | 62650380 | + |
5UTR-5UTR | ENST00000444836 | ENST00000536981 | MFN2 | chr1 | 12040541 | + | SLC3A2 | chr11 | 62650380 | + |
![]() |
Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | Seq length (transcript) | BP loci (transcript) | Predicted start (transcript) | Predicted stop (transcript) | Seq length (amino acids) |
![]() |
Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
Top |
Fusion Genomic Features for MFN2-SLC3A2 |
![]() |
Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
![]() |
![]() |
Top |
Fusion Protein Features for MFN2-SLC3A2 |
![]() 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. |
![]() |
![]() |
Hgene | Tgene |
. | . |
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}. |
![]() * 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. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
- In-frame and not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
Top |
Fusion Gene Sequence for MFN2-SLC3A2 |
![]() |
Top |
Fusion Gene PPI Analysis for MFN2-SLC3A2 |
![]() |
![]() |
Hgene | Hgene's interactors | Tgene | Tgene's interactors |
![]() |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
![]() |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
![]() |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
Top |
Related Drugs for MFN2-SLC3A2 |
![]() (DrugBank Version 5.1.8 2021-05-08) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Top |
Related Diseases for MFN2-SLC3A2 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | MFN2 | C4721887 | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A | 7 | GENOMICS_ENGLAND;UNIPROT |
Hgene | MFN2 | C0393807 | Hereditary motor and sensory neuropathy with optic atrophy (disorder) | 6 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |
Hgene | MFN2 | C4310725 | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B | 5 | CTD_human;GENOMICS_ENGLAND;UNIPROT |
Hgene | MFN2 | C0011881 | Diabetic Nephropathy | 1 | CTD_human |
Hgene | MFN2 | C0017667 | Nodular glomerulosclerosis | 1 | CTD_human |
Hgene | MFN2 | C0018800 | Cardiomegaly | 1 | CTD_human |
Hgene | MFN2 | C0020429 | Hyperalgesia | 1 | CTD_human |
Hgene | MFN2 | C0023804 | Lipomatosis, Multiple Symmetrical | 1 | ORPHANET |
Hgene | MFN2 | C0029124 | Optic Atrophy | 1 | GENOMICS_ENGLAND |
Hgene | MFN2 | C0458247 | Allodynia | 1 | CTD_human |
Hgene | MFN2 | C0600519 | Ventricular Remodeling | 1 | CTD_human |
Hgene | MFN2 | C0600520 | Left Ventricle Remodeling | 1 | CTD_human |
Hgene | MFN2 | C0751211 | Hyperalgesia, Primary | 1 | CTD_human |
Hgene | MFN2 | C0751212 | Hyperalgesia, Secondary | 1 | CTD_human |
Hgene | MFN2 | C0751213 | Tactile Allodynia | 1 | CTD_human |
Hgene | MFN2 | C0751214 | Hyperalgesia, Thermal | 1 | CTD_human |
Hgene | MFN2 | C1383860 | Cardiac Hypertrophy | 1 | CTD_human |
Hgene | MFN2 | C2936719 | Mechanical Allodynia | 1 | CTD_human |
Tgene | C0024121 | Lung Neoplasms | 1 | CTD_human | |
Tgene | C0242379 | Malignant neoplasm of lung | 1 | CTD_human |