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Fusion gene ID: 13607 |
FusionGeneSummary for FMN2_CHCHD6 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: FMN2_CHCHD6 | Fusion gene ID: 13607 | Hgene | Tgene | Gene symbol | FMN2 | CHCHD6 | Gene ID | 56776 | 84303 |
| Gene name | formin 2 | coiled-coil-helix-coiled-coil-helix domain containing 6 | |
| Synonyms | - | CHCM1|Mic25|PPP1R23 | |
| Cytomap | 1q43 | 3q21.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | formin-2 | MICOS complex subunit MIC25coiled coil helix cristae morphology 1coiled-coil-helix cristae morphology protein 1coiled-coil-helix-coiled-coil-helix domain-containing protein 6, mitochondrialprotein phosphatase 1, regulatory subunit 23 | |
| Modification date | 20180519 | 20180522 | |
| UniProtAcc | Q9NZ56 | Q9BRQ6 | |
| Ensembl transtripts involved in fusion gene | ENST00000319653, ENST00000545751, ENST00000543681, ENST00000496950, | ENST00000290913, ENST00000508789, ENST00000515867, | |
| Fusion gene scores | * DoF score | 1 X 1 X 1=1 | 5 X 6 X 6=180 |
| # samples | 1 | 6 | |
| ** MAII score | log2(1/1*10)=3.32192809488736 | log2(6/180*10)=-1.58496250072116 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: FMN2 [Title/Abstract] AND CHCHD6 [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 |
| Tgene | CHCHD6 | GO:0006974 | cellular response to DNA damage stimulus | 22228767 |
| 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 |
| TCGA | LD | KIRC | TCGA-A3-3306-01A | FMN2 | chr1 | 240519208 | + | CHCHD6 | chr3 | 126499183 | + |
| * 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 |
| 5CDS-intron | ENST00000319653 | ENST00000290913 | FMN2 | chr1 | 240519208 | + | CHCHD6 | chr3 | 126499183 | + |
| 5CDS-intron | ENST00000319653 | ENST00000508789 | FMN2 | chr1 | 240519208 | + | CHCHD6 | chr3 | 126499183 | + |
| 5CDS-intron | ENST00000319653 | ENST00000515867 | FMN2 | chr1 | 240519208 | + | CHCHD6 | chr3 | 126499183 | + |
| 5CDS-intron | ENST00000545751 | ENST00000290913 | FMN2 | chr1 | 240519208 | + | CHCHD6 | chr3 | 126499183 | + |
| 5CDS-intron | ENST00000545751 | ENST00000508789 | FMN2 | chr1 | 240519208 | + | CHCHD6 | chr3 | 126499183 | + |
| 5CDS-intron | ENST00000545751 | ENST00000515867 | FMN2 | chr1 | 240519208 | + | CHCHD6 | chr3 | 126499183 | + |
| intron-intron | ENST00000543681 | ENST00000290913 | FMN2 | chr1 | 240519208 | + | CHCHD6 | chr3 | 126499183 | + |
| intron-intron | ENST00000543681 | ENST00000508789 | FMN2 | chr1 | 240519208 | + | CHCHD6 | chr3 | 126499183 | + |
| intron-intron | ENST00000543681 | ENST00000515867 | FMN2 | chr1 | 240519208 | + | CHCHD6 | chr3 | 126499183 | + |
| intron-intron | ENST00000496950 | ENST00000290913 | FMN2 | chr1 | 240519208 | + | CHCHD6 | chr3 | 126499183 | + |
| intron-intron | ENST00000496950 | ENST00000508789 | FMN2 | chr1 | 240519208 | + | CHCHD6 | chr3 | 126499183 | + |
| intron-intron | ENST00000496950 | ENST00000515867 | FMN2 | chr1 | 240519208 | + | CHCHD6 | chr3 | 126499183 | + |
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FusionProtFeatures for FMN2_CHCHD6 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| FMN2 | CHCHD6 |
| Required for asymmetric spindle positioning, asymmetricoocyte division and polar body extrusion during female germ cellmeiosis (By similarity). Actin-binding protein that is involved inactin cytoskeleton assembly and reorganization. Acts as an actinnucleation factor and promotes assembly of actin filamentstogether with SPIRE1 and SPIRE2. Involved in intracellular vesicletransport along actin fibers, providing a novel link between actincytoskeleton dynamics and intracellular transport. Plays a role inresponses to DNA damage, cellular stress and hypoxia by protectingCDKN1A against degradation, and thereby plays a role in stress-induced cell cycle arrest. Protects cells against apoptosis byprotecting CDKN1A against degradation. {ECO:0000250,ECO:0000269|PubMed:22330775, ECO:0000269|PubMed:23375502}. | Component of the MICOS complex, a large protein complexof the mitochondrial inner membrane that plays crucial roles inthe maintenance of crista junctions, inner membrane architecture,and formation of contact sites to the outer membrane.{ECO:0000269|PubMed:22228767}. |
| 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 FMN2_CHCHD6 |
| 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 FMN2_CHCHD6 |
| 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 |
| FMN2 | APBB2, TGFBR2, CASP1, BTN2A1, KPTN, BOD1, CTDSPL, ALDH3B1, SPATA5L1, PDDC1, RAB2B, PTP4A2 | CHCHD6 | UBC, APP, ERLIN1, TMED4, SLC25A12, PTPLAD1, NPM1, CLEC5A, CHCHD2, NDUFA8, RAB7A, VAPA, MTX2, GOLT1B, MMGT1, C19orf70, APOOL, SLC22A16, CD244, INVS |
| - 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 FMN2_CHCHD6 |
| 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 FMN2_CHCHD6 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | FMN2 | C0007134 | Renal Cell Carcinoma | 1 | CTD_human |
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