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Fusion gene ID: 21760 |
FusionGeneSummary for MFN2_MFN2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: MFN2_MFN2 | Fusion gene ID: 21760 | Hgene | Tgene | Gene symbol | MFN2 | MFN2 | Gene ID | 9927 | 9927 |
| Gene name | mitofusin 2 | mitofusin 2 | |
| Synonyms | CMT2A|CMT2A2|CMT2A2A|CMT2A2B|CPRP1|HMSN6A|HSG|MARF | CMT2A|CMT2A2|CMT2A2A|CMT2A2B|CPRP1|HMSN6A|HSG|MARF | |
| Cytomap | 1p36.22 | 1p36.22 | |
| Type of gene | protein-coding | protein-coding | |
| Description | mitofusin-2hyperplasia suppressormitochondrial assembly regulatory factortransmembrane GTPase MFN2 | mitofusin-2hyperplasia suppressormitochondrial assembly regulatory factortransmembrane GTPase MFN2 | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | O95140 | O95140 | |
| Ensembl transtripts involved in fusion gene | ENST00000444836, ENST00000235329, ENST00000497302, | ENST00000444836, ENST00000235329, ENST00000497302, | |
| Fusion gene scores | * DoF score | 3 X 4 X 2=24 | 3 X 4 X 2=24 |
| # samples | 4 | 4 | |
| ** MAII score | log2(4/24*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(4/24*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: MFN2 [Title/Abstract] AND MFN2 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | |||
| * DoF score (Degree of Frequency) = # partners X # break points X # cancer types ** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10) |
| Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| 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 |
| Tgene | MFN2 | GO:0006626 | protein targeting to mitochondrion | 11181170 |
| Tgene | MFN2 | GO:0007006 | mitochondrial membrane organization | 11181170 |
| Tgene | MFN2 | GO:0034497 | protein localization to phagophore assembly site | 23455425 |
| Tgene | MFN2 | GO:0046580 | negative regulation of Ras protein signal transduction | 15322553 |
| Tgene | MFN2 | GO:0051646 | mitochondrion localization | 11181170 |
| Fusion gene information from three resources (ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018)) * 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. |
| Data type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| ChiTaRS3.1 | BF834721 | MFN2 | chr1 | 12071582 | - | MFN2 | chr1 | 12069686 | + | ||
| ChiTaRS3.1 | BF689364 | MFN2 | chr1 | 12066664 | + | MFN2 | chr1 | 12062133 | + |
| * LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
| 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. |
| ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| In-frame | ENST00000444836 | ENST00000444836 | MFN2 | chr1 | 12071582 | - | MFN2 | chr1 | 12069686 | + |
| In-frame | ENST00000444836 | ENST00000235329 | MFN2 | chr1 | 12071582 | - | MFN2 | chr1 | 12069686 | + |
| 5CDS-intron | ENST00000444836 | ENST00000497302 | MFN2 | chr1 | 12071582 | - | MFN2 | chr1 | 12069686 | + |
| In-frame | ENST00000235329 | ENST00000444836 | MFN2 | chr1 | 12071582 | - | MFN2 | chr1 | 12069686 | + |
| In-frame | ENST00000235329 | ENST00000235329 | MFN2 | chr1 | 12071582 | - | MFN2 | chr1 | 12069686 | + |
| 5CDS-intron | ENST00000235329 | ENST00000497302 | MFN2 | chr1 | 12071582 | - | MFN2 | chr1 | 12069686 | + |
| intron-3CDS | ENST00000497302 | ENST00000444836 | MFN2 | chr1 | 12071582 | - | MFN2 | chr1 | 12069686 | + |
| intron-3CDS | ENST00000497302 | ENST00000235329 | MFN2 | chr1 | 12071582 | - | MFN2 | chr1 | 12069686 | + |
| intron-intron | ENST00000497302 | ENST00000497302 | MFN2 | chr1 | 12071582 | - | MFN2 | chr1 | 12069686 | + |
| In-frame | ENST00000444836 | ENST00000444836 | MFN2 | chr1 | 12066664 | + | MFN2 | chr1 | 12062133 | + |
| In-frame | ENST00000444836 | ENST00000235329 | MFN2 | chr1 | 12066664 | + | MFN2 | chr1 | 12062133 | + |
| 5CDS-intron | ENST00000444836 | ENST00000497302 | MFN2 | chr1 | 12066664 | + | MFN2 | chr1 | 12062133 | + |
| In-frame | ENST00000235329 | ENST00000444836 | MFN2 | chr1 | 12066664 | + | MFN2 | chr1 | 12062133 | + |
| In-frame | ENST00000235329 | ENST00000235329 | MFN2 | chr1 | 12066664 | + | MFN2 | chr1 | 12062133 | + |
| 5CDS-intron | ENST00000235329 | ENST00000497302 | MFN2 | chr1 | 12066664 | + | MFN2 | chr1 | 12062133 | + |
| intron-3CDS | ENST00000497302 | ENST00000444836 | MFN2 | chr1 | 12066664 | + | MFN2 | chr1 | 12062133 | + |
| intron-3CDS | ENST00000497302 | ENST00000235329 | MFN2 | chr1 | 12066664 | + | MFN2 | chr1 | 12062133 | + |
| intron-intron | ENST00000497302 | ENST00000497302 | MFN2 | chr1 | 12066664 | + | MFN2 | chr1 | 12062133 | + |
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FusionProtFeatures for MFN2_MFN2 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| MFN2 | MFN2 |
| Mitochondrial outer membrane GTPase that mediatesmitochondrial clustering and fusion (PubMed:11181170,PubMed:11950885, PubMed:28114303). Mitochondria are highly dynamicorganelles, and their morphology is determined by the equilibriumbetween mitochondrial fusion and fission events (PubMed:28114303).Overexpression induces the formation of mitochondrial networks(PubMed:28114303). Membrane clustering requires GTPase activityand may involve a major rearrangement of the coiled coil domains(Probable). Plays a central role in mitochondrial metabolism andmay be associated with obesity and/or apoptosis processes (Bysimilarity). Plays an important role in the regulation of vascularsmooth muscle cell proliferation (By similarity). Involved in theclearance of damaged mitochondria via selective autophagy(mitophagy) (PubMed:23620051). Is required for PRKN recruitment todysfunctional mitochondria (PubMed:23620051). Involved in thecontrol of unfolded protein response (UPR) upon ER stressincluding activation of apoptosis and autophagy during ER stress(By similarity). Acts as an upstream regulator of EIF2AK3 andsuppresses EIF2AK3 activation under basal conditions (Bysimilarity). {ECO:0000250|UniProtKB:Q80U63,ECO:0000250|UniProtKB:Q8R500, ECO:0000269|PubMed:11181170,ECO:0000269|PubMed:11950885, ECO:0000269|PubMed:23620051,ECO:0000269|PubMed:26085578, ECO:0000269|PubMed:28114303,ECO:0000305}. | Mitochondrial outer membrane GTPase that mediatesmitochondrial clustering and fusion (PubMed:11181170,PubMed:11950885, PubMed:28114303). Mitochondria are highly dynamicorganelles, and their morphology is determined by the equilibriumbetween mitochondrial fusion and fission events (PubMed:28114303).Overexpression induces the formation of mitochondrial networks(PubMed:28114303). Membrane clustering requires GTPase activityand may involve a major rearrangement of the coiled coil domains(Probable). Plays a central role in mitochondrial metabolism andmay be associated with obesity and/or apoptosis processes (Bysimilarity). Plays an important role in the regulation of vascularsmooth muscle cell proliferation (By similarity). Involved in theclearance of damaged mitochondria via selective autophagy(mitophagy) (PubMed:23620051). Is required for PRKN recruitment todysfunctional mitochondria (PubMed:23620051). Involved in thecontrol of unfolded protein response (UPR) upon ER stressincluding activation of apoptosis and autophagy during ER stress(By similarity). Acts as an upstream regulator of EIF2AK3 andsuppresses EIF2AK3 activation under basal conditions (Bysimilarity). {ECO:0000250|UniProtKB:Q80U63,ECO:0000250|UniProtKB:Q8R500, ECO:0000269|PubMed:11181170,ECO:0000269|PubMed:11950885, ECO:0000269|PubMed:23620051,ECO:0000269|PubMed:26085578, ECO:0000269|PubMed:28114303,ECO:0000305}. |
| Retention 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 . * 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 |
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FusionGeneSequence for MFN2_MFN2 |
| For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. (nt: nucleotides, aa: amino acids) |
| * Fusion amino acid sequences. |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| * Fusion transcript sequences (Full-length transcript). |
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FusionGenePPI for MFN2_MFN2 |
| Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
| Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
| Hgene | Hgene's interactors | Tgene | Tgene's interactors |
| - Retained PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| - Lost PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
| - Retained PPIs, but lost function due to frame-shift fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for MFN2_MFN2 |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for MFN2_MFN2 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | MFN2 | C1836485 | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2 (disorder) | 3 | CTD_human;ORPHANET;UNIPROT |
| Hgene | MFN2 | C0393807 | Hereditary motor and sensory neuropathy with optic atrophy (disorder) | 2 | CTD_human;ORPHANET;UNIPROT |
| Hgene | MFN2 | C0018800 | Cardiomegaly | 1 | CTD_human |
| Tgene | MFN2 | C1836485 | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2 (disorder) | 3 | CTD_human;ORPHANET;UNIPROT |
| Tgene | MFN2 | C0393807 | Hereditary motor and sensory neuropathy with optic atrophy (disorder) | 2 | CTD_human;ORPHANET;UNIPROT |
| Tgene | MFN2 | C0018800 | Cardiomegaly | 1 | CTD_human |
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