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 | 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:DNM1L-ITPR2 (FusionGDB2 ID:23624) |
Fusion Gene Summary for DNM1L-ITPR2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: DNM1L-ITPR2 | Fusion gene ID: 23624 | Hgene | Tgene | Gene symbol | DNM1L | ITPR2 | Gene ID | 10059 | 3709 |
| Gene name | dynamin 1 like | inositol 1,4,5-trisphosphate receptor type 2 | |
| Synonyms | DLP1|DRP1|DVLP|DYMPLE|EMPF|EMPF1|HDYNIV|OPA5 | ANHD|CFAP48|INSP3R2|IP3R2 | |
| Cytomap | 12p11.21 | 12p11.23 | |
| Type of gene | protein-coding | protein-coding | |
| Description | dynamin-1-like proteinDnm1p/Vps1p-like proteindynamin family member proline-rich carboxyl-terminal domain lessdynamin-like protein 4dynamin-like protein IVdynamin-related protein 1 | inositol 1,4,5-trisphosphate receptor type 2IP3 receptorIP3R 2cilia and flagella associated protein 48type 2 InsP3 receptor | |
| Modification date | 20200327 | 20200313 | |
| UniProtAcc | O00429 | Q14571 | |
| Ensembl transtripts involved in fusion gene | ENST00000548671, ENST00000266481, ENST00000358214, ENST00000381000, ENST00000452533, ENST00000547312, ENST00000549701, ENST00000553257, ENST00000414834, | ENST00000381340, ENST00000242737, ENST00000545902, | |
| Fusion gene scores | * DoF score | 8 X 4 X 9=288 | 27 X 21 X 12=6804 |
| # samples | 10 | 27 | |
| ** MAII score | log2(10/288*10)=-1.52606881166759 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(27/6804*10)=-4.65535182861255 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: DNM1L [Title/Abstract] AND ITPR2 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint | DNM1L(32832399)-ITPR2(26589279), # samples:3 | ||
| Anticipated loss of major functional domain due to fusion event. | DNM1L-ITPR2 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF. DNM1L-ITPR2 seems lost the major protein functional domain in Tgene partner, which is a cell metabolism gene due to the frame-shifted ORF. DNM1L-ITPR2 seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target due to the frame-shifted ORF. | ||
| * 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 | DNM1L | GO:0000266 | mitochondrial fission | 23530241 |
| Hgene | DNM1L | GO:0003374 | dynamin family protein polymerization involved in mitochondrial fission | 11514614|23530241 |
| Hgene | DNM1L | GO:0016559 | peroxisome fission | 12618434 |
| Hgene | DNM1L | GO:0050714 | positive regulation of protein secretion | 9570752 |
| Hgene | DNM1L | GO:0061025 | membrane fusion | 20850011 |
| Hgene | DNM1L | GO:0065003 | protein-containing complex assembly | 20850011 |
| Hgene | DNM1L | GO:0090149 | mitochondrial membrane fission | 11514614 |
| Tgene | ITPR2 | GO:0001666 | response to hypoxia | 19120137 |
| Fusion gene breakpoints across DNM1L (5'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
| Fusion gene breakpoints across ITPR2 (3'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
| Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0) * 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 | LUAD | TCGA-55-6986-01A | DNM1L | chr12 | 32832399 | - | ITPR2 | chr12 | 26589279 | - |
| ChimerDB4 | LUAD | TCGA-55-6986-01A | DNM1L | chr12 | 32832399 | + | ITPR2 | chr12 | 26589279 | - |
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Fusion Gene ORF analysis for DNM1L-ITPR2 |
| 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 |
| 3UTR-3CDS | ENST00000548671 | ENST00000381340 | DNM1L | chr12 | 32832399 | + | ITPR2 | chr12 | 26589279 | - |
| 3UTR-intron | ENST00000548671 | ENST00000242737 | DNM1L | chr12 | 32832399 | + | ITPR2 | chr12 | 26589279 | - |
| 3UTR-intron | ENST00000548671 | ENST00000545902 | DNM1L | chr12 | 32832399 | + | ITPR2 | chr12 | 26589279 | - |
| 5CDS-intron | ENST00000266481 | ENST00000242737 | DNM1L | chr12 | 32832399 | + | ITPR2 | chr12 | 26589279 | - |
| 5CDS-intron | ENST00000266481 | ENST00000545902 | DNM1L | chr12 | 32832399 | + | ITPR2 | chr12 | 26589279 | - |
| 5CDS-intron | ENST00000358214 | ENST00000242737 | DNM1L | chr12 | 32832399 | + | ITPR2 | chr12 | 26589279 | - |
| 5CDS-intron | ENST00000358214 | ENST00000545902 | DNM1L | chr12 | 32832399 | + | ITPR2 | chr12 | 26589279 | - |
| 5CDS-intron | ENST00000381000 | ENST00000242737 | DNM1L | chr12 | 32832399 | + | ITPR2 | chr12 | 26589279 | - |
| 5CDS-intron | ENST00000381000 | ENST00000545902 | DNM1L | chr12 | 32832399 | + | ITPR2 | chr12 | 26589279 | - |
| 5CDS-intron | ENST00000452533 | ENST00000242737 | DNM1L | chr12 | 32832399 | + | ITPR2 | chr12 | 26589279 | - |
| 5CDS-intron | ENST00000452533 | ENST00000545902 | DNM1L | chr12 | 32832399 | + | ITPR2 | chr12 | 26589279 | - |
| 5CDS-intron | ENST00000547312 | ENST00000242737 | DNM1L | chr12 | 32832399 | + | ITPR2 | chr12 | 26589279 | - |
| 5CDS-intron | ENST00000547312 | ENST00000545902 | DNM1L | chr12 | 32832399 | + | ITPR2 | chr12 | 26589279 | - |
| 5CDS-intron | ENST00000549701 | ENST00000242737 | DNM1L | chr12 | 32832399 | + | ITPR2 | chr12 | 26589279 | - |
| 5CDS-intron | ENST00000549701 | ENST00000545902 | DNM1L | chr12 | 32832399 | + | ITPR2 | chr12 | 26589279 | - |
| 5CDS-intron | ENST00000553257 | ENST00000242737 | DNM1L | chr12 | 32832399 | + | ITPR2 | chr12 | 26589279 | - |
| 5CDS-intron | ENST00000553257 | ENST00000545902 | DNM1L | chr12 | 32832399 | + | ITPR2 | chr12 | 26589279 | - |
| 5UTR-3CDS | ENST00000414834 | ENST00000381340 | DNM1L | chr12 | 32832399 | + | ITPR2 | chr12 | 26589279 | - |
| 5UTR-intron | ENST00000414834 | ENST00000242737 | DNM1L | chr12 | 32832399 | + | ITPR2 | chr12 | 26589279 | - |
| 5UTR-intron | ENST00000414834 | ENST00000545902 | DNM1L | chr12 | 32832399 | + | ITPR2 | chr12 | 26589279 | - |
| Frame-shift | ENST00000266481 | ENST00000381340 | DNM1L | chr12 | 32832399 | + | ITPR2 | chr12 | 26589279 | - |
| Frame-shift | ENST00000358214 | ENST00000381340 | DNM1L | chr12 | 32832399 | + | ITPR2 | chr12 | 26589279 | - |
| Frame-shift | ENST00000381000 | ENST00000381340 | DNM1L | chr12 | 32832399 | + | ITPR2 | chr12 | 26589279 | - |
| Frame-shift | ENST00000452533 | ENST00000381340 | DNM1L | chr12 | 32832399 | + | ITPR2 | chr12 | 26589279 | - |
| Frame-shift | ENST00000547312 | ENST00000381340 | DNM1L | chr12 | 32832399 | + | ITPR2 | chr12 | 26589279 | - |
| Frame-shift | ENST00000549701 | ENST00000381340 | DNM1L | chr12 | 32832399 | + | ITPR2 | chr12 | 26589279 | - |
| Frame-shift | ENST00000553257 | ENST00000381340 | DNM1L | chr12 | 32832399 | + | ITPR2 | chr12 | 26589279 | - |
| ORFfinder result based on the fusion transcript sequence of in-frame fusion genes. |
| 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) |
| DeepORF 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. |
| Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
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Fusion Genomic Features for DNM1L-ITPR2 |
| FusionAI 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. |
| Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
| Distribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page. |
| Distribution 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. |
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Fusion Protein Features for DNM1L-ITPR2 |
| Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:32832399/:26589279) - 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. |
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| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| DNM1L | ITPR2 |
| FUNCTION: Functions in mitochondrial and peroxisomal division (PubMed:9570752, PubMed:9786947, PubMed:11514614, PubMed:12499366, PubMed:17301055, PubMed:17553808, PubMed:17460227, PubMed:18695047, PubMed:18838687, PubMed:19638400, PubMed:19411255, PubMed:19342591, PubMed:23921378, PubMed:23283981, PubMed:23530241, PubMed:29478834, PubMed:32484300, PubMed:27145208, PubMed:26992161, PubMed:27301544, PubMed:27328748). Mediates membrane fission through oligomerization into membrane-associated tubular structures that wrap around the scission site to constrict and sever the mitochondrial membrane through a GTP hydrolysis-dependent mechanism (PubMed:23530241, PubMed:23584531). The specific recruitment at scission sites is mediated by membrane receptors like MFF, MIEF1 and MIEF2 for mitochondrial membranes (PubMed:23921378, PubMed:23283981, PubMed:29899447). While the recruitment by the membrane receptors is GTP-dependent, the following hydrolysis of GTP induces the dissociation from the receptors and allows DNM1L filaments to curl into closed rings that are probably sufficient to sever a double membrane (PubMed:29899447). Acts downstream of PINK1 to promote mitochondrial fission in a PRKN-dependent manner (PubMed:32484300). Plays an important role in mitochondrial fission during mitosis (PubMed:19411255, PubMed:26992161, PubMed:27301544, PubMed:27328748). Through its function in mitochondrial division, ensures the survival of at least some types of postmitotic neurons, including Purkinje cells, by suppressing oxidative damage (By similarity). Required for normal brain development, including that of cerebellum (PubMed:17460227, PubMed:27145208, PubMed:26992161, PubMed:27301544, PubMed:27328748). Facilitates developmentally regulated apoptosis during neural tube formation (By similarity). Required for a normal rate of cytochrome c release and caspase activation during apoptosis; this requirement may depend upon the cell type and the physiological apoptotic cues (By similarity). Required for formation of endocytic vesicles (PubMed:9570752, PubMed:20688057, PubMed:23792689). Proposed to regulate synaptic vesicle membrane dynamics through association with BCL2L1 isoform Bcl-X(L) which stimulates its GTPase activity in synaptic vesicles; the function may require its recruitment by MFF to clathrin-containing vesicles (PubMed:17015472, PubMed:23792689). Required for programmed necrosis execution (PubMed:22265414). Rhythmic control of its activity following phosphorylation at Ser-637 is essential for the circadian control of mitochondrial ATP production (PubMed:29478834). {ECO:0000250|UniProtKB:Q8K1M6, ECO:0000269|PubMed:11514614, ECO:0000269|PubMed:12499366, ECO:0000269|PubMed:17015472, ECO:0000269|PubMed:17301055, ECO:0000269|PubMed:17460227, ECO:0000269|PubMed:17553808, ECO:0000269|PubMed:18695047, ECO:0000269|PubMed:18838687, ECO:0000269|PubMed:19342591, ECO:0000269|PubMed:19411255, ECO:0000269|PubMed:19638400, ECO:0000269|PubMed:20688057, ECO:0000269|PubMed:22265414, ECO:0000269|PubMed:23283981, ECO:0000269|PubMed:23530241, ECO:0000269|PubMed:23584531, ECO:0000269|PubMed:23792689, ECO:0000269|PubMed:23921378, ECO:0000269|PubMed:26992161, ECO:0000269|PubMed:27145208, ECO:0000269|PubMed:27301544, ECO:0000269|PubMed:27328748, ECO:0000269|PubMed:29478834, ECO:0000269|PubMed:29899447, ECO:0000269|PubMed:32484300, ECO:0000269|PubMed:9570752, ECO:0000269|PubMed:9786947}.; FUNCTION: [Isoform 1]: Inhibits peroxisomal division when overexpressed. {ECO:0000269|PubMed:12618434}.; FUNCTION: [Isoform 4]: Inhibits peroxisomal division when overexpressed. {ECO:0000269|PubMed:12618434}. | FUNCTION: Receptor for inositol 1,4,5-trisphosphate, a second messenger that mediates the release of intracellular calcium. This release is regulated by cAMP both dependently and independently of PKA (By similarity). {ECO:0000250|UniProtKB:Q9Z329}. |
| 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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Fusion Gene Sequence for DNM1L-ITPR2 |
| 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 DNM1L-ITPR2 |
| 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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Related Drugs for DNM1L-ITPR2 |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.8 2021-05-08) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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Related Diseases for DNM1L-ITPR2 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
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